#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
AASS	10157	genome.wustl.edu	37	7	121741706	121741706	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:121741706T>G	ENST00000393376.1	-	11	1402	c.1307A>C	c.(1306-1308)gAa>gCa	p.E436A	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.E436A			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	436	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ATTCTGACTTTCAAGAGGCTG	0.348																																																	0													51.0	53.0	52.0					7																	121741706		2203	4298	6501	SO:0001583	missense	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1307A>C	7.37:g.121741706T>G	ENSP00000377040:p.Glu436Ala		O95462	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.E436A	ENST00000393376.1	37	c.1307	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079862	0.55753	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.67	5.67	0.87782	.	0.086699	0.85682	D	0.000000	T	0.72020	0.3409	M	0.76838	2.35	0.58432	D	0.999998	D	0.54964	0.969	P	0.51742	0.678	T	0.72027	-0.4414	9	0.30854	T	0.27	-29.7564	15.8627	0.79038	0.0:0.0:0.0:1.0	.	436	Q9UDR5	AASS_HUMAN	A	436	.	ENSP00000351834:E436A	E	-	2	0	AASS	121528942	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.805000	0.69143	2.281000	0.76405	0.533000	0.62120	GAA	AASS	-	NULL	ENSG00000008311		0.348	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1		0.00	48	0	T	NM_005763		121741706	-1			no_errors	ENST00000393376	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	G
ABCC2	1244	genome.wustl.edu	37	10	101591778	101591778	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:101591778G>T	ENST00000370449.4	+	23	3261	c.3148G>T	c.(3148-3150)Gtc>Ttc	p.V1050F		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1050	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	CTTTGGTTTCGTCCATGCATC	0.443																																																	0													205.0	171.0	182.0					10																	101591778		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.3148G>T	10.37:g.101591778G>T	ENSP00000359478:p.Val1050Phe		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.V1050F	ENST00000370449.4	37	c.3148	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652594	0.29336	.	.	ENSG00000023839	ENST00000370449	D	0.89617	-2.54	5.64	-1.43	0.08884	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.957126	0.08824	N	0.888289	D	0.83959	0.5367	L	0.46614	1.455	0.09310	N	1	B	0.15719	0.014	B	0.20577	0.03	T	0.72469	-0.4284	10	0.59425	D	0.04	-2.6294	8.5729	0.33581	0.4572:0.1115:0.4313:0.0	.	1050	Q92887	MRP2_HUMAN	F	1050	ENSP00000359478:V1050F	ENSP00000359478:V1050F	V	+	1	0	ABCC2	101581768	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.411000	0.07142	-0.140000	0.11394	-0.423000	0.05987	GTC	ABCC2	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	ENSG00000023839		0.443	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	-	0.00	67	0	G	NM_000392		101591778	+1	tier1	-	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	6.25	75	5	SNP	0.000	T
ABCC9	10060	genome.wustl.edu	37	12	22089606	22089606	+	Start_Codon_SNP	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:22089606C>A	ENST00000261201.4	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	ABCC9_ENST00000345162.2_Start_Codon_SNP_p.M1I|ABCC9_ENST00000261200.4_Start_Codon_SNP_p.M1I|ABCC9_ENST00000326684.4_Start_Codon_SNP_p.M1I|ABCC9_ENST00000538350.1_Start_Codon_SNP_p.M1I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATGAAAGGCTCATTTCTTCTT	0.333																																																	0													79.0	81.0	81.0					12																	22089606		2203	4299	6502	SO:0001582	initiator_codon_variant	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3G>T	12.37:g.22089606C>A	ENSP00000261201:p.Met1Ile		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.M1I	ENST00000261201.4	37	c.3	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979481	0.92982	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162;ENST00000326684;ENST00000538350	D;D;D;D;D	0.97066	-2.9;-2.91;-2.93;-4.2;-4.23	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	.	.	.	0.80722	D	1	D;P;P;B	0.57257	0.979;0.956;0.952;0.241	D;D;P;B	0.75484	0.986;0.98;0.54;0.093	D	0.99357	1.0916	9	0.87932	D	0	-31.2364	19.196	0.93689	0.0:1.0:0.0:0.0	.	1;1;1;1	G3V1N6;Q8N4N7;O60706;O60706-2	.;.;ABCC9_HUMAN;.	I	1	ENSP00000261200:M1I;ENSP00000261201:M1I;ENSP00000261202:M1I;ENSP00000317518:M1I;ENSP00000442604:M1I	ENSP00000261200:M1I	M	-	3	0	ABCC9	21980873	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.606000	0.82863	2.766000	0.95052	0.643000	0.83706	ATG	ABCC9	-	NULL	ENSG00000069431		0.333	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0.00	59	0	C	NM_005691	Missense_Mutation	22089606	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	51.22	20	21	SNP	1.000	A
ABTB2	25841	genome.wustl.edu	37	11	34194800	34194800	+	Silent	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:34194800G>A	ENST00000435224.2	-	4	1723	c.1299C>T	c.(1297-1299)taC>taT	p.Y433Y	ABTB2_ENST00000298992.2_Silent_p.Y247Y|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	433					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGTGCTCTGCGTAGGTGATGG	0.687																																																	0													19.0	20.0	20.0					11																	34194800		2199	4295	6494	SO:0001819	synonymous_variant	0			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1299C>T	11.37:g.34194800G>A			A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.Y433	ENST00000435224.2	37	c.1299	CCDS7890.2	11																																																																																			ABTB2	-	superfamily_Histone-fold	ENSG00000166016		0.687	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	-	0.00	85	0	G	NM_145804		34194800	-1	tier1	-	no_errors	ENST00000435224	ensembl	human	known	74_37	silent	24.31	109	35	SNP	0.791	A
ACAN	176	genome.wustl.edu	37	15	89398756	89398756	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:89398756A>C	ENST00000561243.1	+	11	2940	c.2940A>C	c.(2938-2940)gaA>gaC	p.E980D	ACAN_ENST00000439576.2_Missense_Mutation_p.E980D|ACAN_ENST00000352105.7_Missense_Mutation_p.E980D|ACAN_ENST00000559004.1_Missense_Mutation_p.E980D			P16112	PGCA_HUMAN	aggrecan	979	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCTGGAGAAGTTCTAGAGA	0.562																																																	0													117.0	118.0	117.0					15																	89398756		1814	4081	5895	SO:0001583	missense	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2940A>C	15.37:g.89398756A>C	ENSP00000453342:p.Glu980Asp		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.E980D	ENST00000561243.1	37	c.2940	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	A	10.35	1.326725	0.24080	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.97688	-4.49;-4.49	3.93	1.42	0.22433	.	.	.	.	.	D	0.96451	0.8842	M	0.71036	2.16	0.09310	N	1	P;P	0.42248	0.774;0.774	P;P	0.49047	0.497;0.599	D	0.89622	0.3849	9	0.13853	T	0.58	0.6581	4.3255	0.11038	0.5846:0.2208:0.0:0.1946	.	980;980	E7ENV9;E7EX88	.;.	D	980	ENSP00000387356:E980D;ENSP00000341615:E980D	ENSP00000268134:E980D	E	+	3	2	ACAN	87199760	.	.	0.586000	0.28679	0.582000	0.36321	.	.	0.169000	0.19679	0.410000	0.27636	GAA	ACAN	-	NULL	ENSG00000157766		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	-	0.00	65	0	A	NM_001135		89398756	+1	tier1	-	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.222	C
ACSL1	2180	genome.wustl.edu	37	4	185681562	185681562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:185681562G>T	ENST00000515030.1	-	18	2056	c.1731C>A	c.(1729-1731)taC>taA	p.Y577*	ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y406*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Y577*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y406*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y543*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y577*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Y577*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	577					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACTTCGCATGTAGATATTTT	0.438																																																	0													297.0	313.0	308.0					4																	185681562		2203	4300	6503	SO:0001587	stop_gained	0			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1731C>A	4.37:g.185681562G>T	ENSP00000422607:p.Tyr577*		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Y577*	ENST00000515030.1	37	c.1731	CCDS3839.1	4	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454586	0.84209	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	5.55	3.84	0.44239	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9155	10.281	0.43539	0.2649:0.0:0.7351:0.0	.	.	.	.	X	406;577;173;577;543;406;577;577	.	ENSP00000281455:Y577X	Y	-	3	2	ACSL1	185918556	0.978000	0.34361	0.590000	0.28732	0.078000	0.17371	1.831000	0.39141	0.727000	0.32360	-0.126000	0.14955	TAC	ACSL1	-	pfam_AMP-dep_Synth/Lig	ENSG00000151726		0.438	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	HGNC	protein_coding	OTTHUMT00000361112.2	-	0.00	59	0	G	NM_001995		185681562	-1	tier1	-	no_errors	ENST00000281455	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	0.610	T
ADAM22	53616	genome.wustl.edu	37	7	87792457	87792457	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:87792457T>A	ENST00000265727.7	+	23	2117	c.2038T>A	c.(2038-2040)Ttg>Atg	p.L680M	ADAM22_ENST00000315984.7_Missense_Mutation_p.L680M|ADAM22_ENST00000398204.4_Missense_Mutation_p.L680M|ADAM22_ENST00000398209.3_Missense_Mutation_p.L680M|ADAM22_ENST00000398201.4_Missense_Mutation_p.L680M			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	680	EGF-like.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TAGTACTTGCTTGAGCAGTAA	0.418																																																	0													113.0	103.0	106.0					7																	87792457		1853	4089	5942	SO:0001583	missense	0			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2038T>A	7.37:g.87792457T>A	ENSP00000265727:p.Leu680Met		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L680M	ENST00000265727.7	37	c.2038	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532819	0.64972	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.62639	4.48;4.48;4.48;4.48;4.48;4.48;0.01	5.93	3.57	0.40892	Epidermal growth factor-like (1);	0.232871	0.36972	N	0.002314	T	0.63581	0.2523	L	0.51422	1.61	0.25008	N	0.991424	B;B;B;P	0.39535	0.419;0.329;0.221;0.677	B;B;B;P	0.49597	0.341;0.301;0.158;0.616	T	0.55490	-0.8133	10	0.46703	T	0.11	.	8.4947	0.33121	0.0:0.2234:0.0:0.7766	.	732;680;680;680	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	M	680;680;680;680;680;647;38	ENSP00000381262:L680M;ENSP00000381260:L680M;ENSP00000265727:L680M;ENSP00000315900:L680M;ENSP00000381267:L680M;ENSP00000381261:L647M;ENSP00000396233:L38M	ENSP00000265727:L680M	L	+	1	2	ADAM22	87630393	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.354000	0.44098	0.496000	0.27904	0.528000	0.53228	TTG	ADAM22	-	NULL	ENSG00000008277		0.418	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	-	0.00	89	0	T	NM_021723		87792457	+1	tier1	-	no_errors	ENST00000265727	ensembl	human	known	74_37	missense	20.24	67	17	SNP	1.000	A
AFF4	27125	genome.wustl.edu	37	5	132228047	132228047	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:132228047C>T	ENST00000265343.5	-	13	2825	c.2446G>A	c.(2446-2448)Gct>Act	p.A816T	AFF4_ENST00000378595.3_Missense_Mutation_p.A816T	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	816					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGGCCCAGCGGGAGAAGGC	0.448																																					Ovarian(126;889 1733 2942 10745 11605)												0													107.0	110.0	109.0					5																	132228047		2203	4300	6503	SO:0001583	missense	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2446G>A	5.37:g.132228047C>T	ENSP00000265343:p.Ala816Thr		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.A816T	ENST00000265343.5	37	c.2446	CCDS4164.1	5	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376200	0.82682	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.63913	-0.07;-0.07	5.68	5.68	0.88126	.	0.246810	0.41938	D	0.000791	T	0.71558	0.3354	L	0.44542	1.39	0.46725	D	0.999178	D;D	0.89917	1.0;0.98	D;B	0.83275	0.996;0.44	T	0.63567	-0.6608	10	0.12430	T	0.62	-11.7626	17.9742	0.89122	0.0:1.0:0.0:0.0	.	816;816	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	T	816	ENSP00000265343:A816T;ENSP00000367858:A816T	ENSP00000265343:A816T	A	-	1	0	AFF4	132255946	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.243000	0.58721	2.677000	0.91161	0.563000	0.77884	GCT	AFF4	-	pfam_TF_AF4/FMR2	ENSG00000072364		0.448	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1		0.00	32	0	C	NM_014423		132228047	-1			no_errors	ENST00000265343	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
AGTPBP1	23287	genome.wustl.edu	37	9	88247681	88247681	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:88247681C>T	ENST00000357081.3	-	14	2055	c.1911G>A	c.(1909-1911)acG>acA	p.T637T	AGTPBP1_ENST00000376109.3_Silent_p.T649T|AGTPBP1_ENST00000432218.1_Silent_p.T475T|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.T597T			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	637					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGACAGACTTCGTATTTTTCA	0.423																																																	0													114.0	105.0	108.0					9																	88247681		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1911G>A	9.37:g.88247681C>T			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.T649	ENST00000357081.3	37	c.1947		9																																																																																			AGTPBP1	-	NULL	ENSG00000135049		0.423	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	-	0.00	96	0	C	NM_015239		88247681	-1	tier1	-	no_errors	ENST00000376109	ensembl	human	known	74_37	silent	37.50	40	24	SNP	0.040	T
AKAP4	8852	genome.wustl.edu	37	X	49957183	49957183	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:49957183T>G	ENST00000376056.2	-	5	2304	c.2154A>C	c.(2152-2154)caA>caC	p.Q718H	AKAP4_ENST00000376064.3_Missense_Mutation_p.Q718H|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.Q344H|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q727H					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCGAGGCTGCTTGTTCTTCCA	0.453																																																	0													100.0	73.0	82.0					X																	49957183		2203	4300	6503	SO:0001583	missense	0			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2154A>C	X.37:g.49957183T>G	ENSP00000365224:p.Gln718His			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.Q727H	ENST00000376056.2	37	c.2181	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	T	12.12	1.841932	0.32513	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.82	3.64	0.41730	A-kinase anchor 110kDa, C-terminal (1);	0.123545	0.36893	N	0.002351	T	0.19525	0.0469	M	0.63428	1.95	0.27636	N	0.947869	P;D	0.67145	0.918;0.996	P;D	0.66196	0.761;0.942	T	0.04065	-1.0980	9	.	.	.	-9.9623	6.4437	0.21865	0.0:0.116:0.0:0.884	.	727;344	Q5JQC9;A6ND82	AKAP4_HUMAN;.	H	718;344;727;718	ENSP00000365224:Q718H;ENSP00000365226:Q344H;ENSP00000351327:Q727H;ENSP00000365232:Q718H	.	Q	-	3	2	AKAP4	49843923	0.174000	0.23070	0.904000	0.35570	0.436000	0.31835	0.212000	0.17497	0.538000	0.28769	0.430000	0.28490	CAA	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000147081		0.453	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	-	0.00	14	0	T	NM_003886		49957183	-1	tier1	-	no_errors	ENST00000358526	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.985	G
AKAP6	9472	genome.wustl.edu	37	14	33291431	33291431	+	Nonsense_Mutation	SNP	C	C	A	rs200742156	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:33291431C>A	ENST00000280979.4	+	13	4582	c.4412C>A	c.(4411-4413)tCa>tAa	p.S1471*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1471					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.S1471*(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TATGATTACTCATACCTCCAA	0.368																																					Melanoma(49;821 1200 7288 13647 42351)												1	Substitution - Nonsense(1)	large_intestine(1)											77.0	75.0	76.0					14																	33291431		2203	4300	6503	SO:0001587	stop_gained	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4412C>A	14.37:g.33291431C>A	ENSP00000280979:p.Ser1471*		A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.S1471*	ENST00000280979.4	37	c.4412	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	42	9.819255	0.99272	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2933	17.3092	0.87204	0.0:1.0:0.0:0.0	.	.	.	.	X	1471	.	ENSP00000280979:S1471X	S	+	2	0	AKAP6	32361182	0.998000	0.40836	0.956000	0.39512	0.994000	0.84299	5.038000	0.64177	2.514000	0.84764	0.563000	0.77884	TCA	AKAP6	-	NULL	ENSG00000151320		0.368	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2		0.00	89	0	C	NM_004274		33291431	+1			no_errors	ENST00000280979	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	0.994	A
ALG13	79868	genome.wustl.edu	37	X	110996153	110996153	+	Intron	SNP	C	C	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:110996153C>G	ENST00000394780.3	+	25	2985				ALG13_ENST00000470971.1_Intron|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit						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)			endometrium(2)|lung(10)|skin(1)	13						GCCAAAATCACTAAGGGGACT	0.353																																																	0																																										SO:0001627	intron_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.2973+95C>G	X.37:g.110996153C>G			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	RNA	SNP	-	NULL	ENST00000394780.3	37	NULL	CCDS55477.1	X																																																																																			ALG13	-	-	ENSG00000101901		0.353	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	-	0.00	101	0	C	NM_018466		110996153	+1	tier1	-	no_errors	ENST00000474121	ensembl	human	known	74_37	rna	32.00	51	24	SNP	0.000	G
ALOX5	240	genome.wustl.edu	37	10	45938817	45938817	+	Intron	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:45938817C>T	ENST00000374391.2	+	11	1504				ALOX5_ENST00000493336.1_Intron|RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Intron	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase						arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GGCACCGCTCCGCAGACCTGG	0.721																																																	0													13.0	15.0	14.0					10																	45938817		2159	4202	6361	SO:0001627	intron_variant	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1452-47C>T	10.37:g.45938817C>T			B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	RNA	SNP	-	NULL	ENST00000374391.2	37	NULL	CCDS7212.1	10																																																																																			ALOX5	-	-	ENSG00000012779		0.721	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	-	0.00	61	0	C			45938817	+1	tier1	-	no_errors	ENST00000481117	ensembl	human	known	74_37	rna	36.73	31	18	SNP	0.001	T
AMACR	23600	genome.wustl.edu	37	5	33989488	33989488	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:33989488A>C	ENST00000335606.6	-	5	947	c.859T>G	c.(859-861)Ttt>Gtt	p.F287V	AMACR_ENST00000502637.1_Missense_Mutation_p.F272V|AMACR_ENST00000382085.3_Missense_Mutation_p.F287V|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	287					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GTGCCGTCAAAGATTTGACAC	0.463																																																	0													101.0	92.0	95.0					5																	33989488		2203	4300	6503	SO:0001583	missense	0			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.859T>G	5.37:g.33989488A>C	ENSP00000334424:p.Phe287Val		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.F287V	ENST00000335606.6	37	c.859	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	A	26.1	4.701590	0.88924	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.61980	0.06;0.06;0.06	5.7	5.7	0.88788	CoA-transferase family III domain (2);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.97186	3.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	D	0.90899	0.4767	10	0.87932	D	0	-20.9171	16.2624	0.82553	1.0:0.0:0.0:0.0	.	287;272;287	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	V	287;287;272	ENSP00000334424:F287V;ENSP00000371517:F287V;ENSP00000424351:F272V	ENSP00000334424:F287V	F	-	1	0	AMACR	34025245	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	8.950000	0.93019	2.297000	0.77311	0.519000	0.50382	TTT	AMACR	-	superfamily_CoA-Trfase_III_dom	ENSG00000242110		0.463	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	-	0.00	52	0	A	NM_014324		33989488	-1	tier1	-	no_errors	ENST00000335606	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	C
ANKHD1	54882	genome.wustl.edu	37	5	139844263	139844263	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:139844263C>T	ENST00000360839.2	+	10	1838	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.H562Y|ANKHD1_ENST00000297183.6_Missense_Mutation_p.H562Y|ANKHD1_ENST00000394722.3_Missense_Mutation_p.H551Y|ANKHD1_ENST00000394723.3_Missense_Mutation_p.H562Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	562						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTAATGTGCATGCTACAAC	0.378																																																	0													99.0	87.0	91.0					5																	139844263		2203	4300	6503	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1684C>T	5.37:g.139844263C>T	ENSP00000354085:p.His562Tyr		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.H562Y	ENST00000360839.2	37	c.1684	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708255	0.89018	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	T;T;T;T;T;T	0.64085	2.39;2.39;-0.08;-0.08;-0.08;2.39	5.49	5.49	0.81192	Ankyrin repeat-containing domain (4);	0.053535	0.85682	D	0.000000	T	0.63616	0.2526	N	0.25992	0.78	0.80722	D	1	P;P;P;P;D;P	0.53151	0.886;0.906;0.906;0.906;0.958;0.933	B;P;P;P;P;P	0.51945	0.359;0.492;0.671;0.671;0.574;0.685	T	0.67707	-0.5601	10	0.72032	D	0.01	.	19.357	0.94418	0.0:1.0:0.0:0.0	.	562;562;562;562;551;562	Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;.;ANKH1_HUMAN;.;.	Y	562;576;562;562;77;23;562;562;551;562	ENSP00000354085:H562Y;ENSP00000297183:H562Y;ENSP00000394489:H562Y;ENSP00000378212:H562Y;ENSP00000378211:H551Y;ENSP00000432016:H562Y	ENSP00000432016:H562Y	H	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139824447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.380000	0.79704	2.592000	0.87571	0.484000	0.47621	CAT	ANKHD1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000131503		0.378	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	-	0.00	60	0	C	NM_017747		139844263	+1	tier1	-	no_errors	ENST00000297183	ensembl	human	known	74_37	missense	13.10	73	11	SNP	1.000	T
ANKRD26P1	124149	genome.wustl.edu	37	16	46533886	46533886	+	RNA	DEL	T	T	-			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:46533886delT	ENST00000571006.1	-	0	1028							Q6NSI1	AR26L_HUMAN	ankyrin repeat domain 26 pseudogene 1																		TTATACAATCTTTTTTTTATG	0.264																																																	0																																												0			BC070117		16q11.2	2014-03-18	2009-06-12		ENSG00000261239	ENSG00000261239			32955	pseudogene	pseudogene							Standard	NR_026556		Approved	FLJ43980	uc002eeb.3	Q6NSI1	OTTHUMG00000175593		16.37:g.46533886delT				RNA	DEL	-	NULL	ENST00000571006.1	37	NULL		16																																																																																			ANKRD26P1	-	-	ENSG00000261239		0.264	ANKRD26P1-007	KNOWN	basic	processed_transcript	ANKRD26P1	HGNC	pseudogene	OTTHUMT00000437932.1		0.00	25	0	T	NR_026556		46533886	-1	tier1		no_errors	ENST00000566201	ensembl	human	known	74_37	rna	40.74	16	11	DEL	0.053	-
APOBEC4	403314	genome.wustl.edu	37	1	183617853	183617853	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:183617853G>T	ENST00000308641.4	-	2	335	c.64C>A	c.(64-66)Cta>Ata	p.L22I	RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	22					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GAGAAGCTTAGCCAGTAATAT	0.393																																																	0													113.0	103.0	107.0					1																	183617853		2203	4300	6503	SO:0001583	missense	0			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.64C>A	1.37:g.183617853G>T	ENSP00000310622:p.Leu22Ile		Q8N7F6	Missense_Mutation	SNP	pfam_APOBEC_N	p.L22I	ENST00000308641.4	37	c.64	CCDS1358.1	1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237396	0.58886	.	.	ENSG00000173627	ENST00000308641	T	0.17213	2.29	5.24	1.89	0.25635	.	0.165196	0.26792	N	0.022473	T	0.19046	0.0457	L	0.27053	0.805	0.28985	N	0.888389	D	0.60160	0.987	P	0.55112	0.769	T	0.03641	-1.1017	10	0.56958	D	0.05	-8.2623	9.7548	0.40498	0.3223:0.0:0.6777:0.0	.	22	Q8WW27	ABEC4_HUMAN	I	22	ENSP00000310622:L22I	ENSP00000310622:L22I	L	-	1	2	APOBEC4	181884476	0.989000	0.36119	0.985000	0.45067	0.989000	0.77384	1.172000	0.31908	0.614000	0.30107	0.650000	0.86243	CTA	APOBEC4	-	NULL	ENSG00000173627		0.393	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC4	HGNC	protein_coding	OTTHUMT00000086126.1	-	0.00	53	0	G	NM_203454		183617853	-1	tier1	-	no_errors	ENST00000308641	ensembl	human	known	74_37	missense	7.25	64	5	SNP	0.657	T
ARHGAP19	84986	genome.wustl.edu	37	10	98985816	98985816	+	3'UTR	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:98985816G>T	ENST00000358531.4	-	0	1576				ARHGAP19-SLIT1_ENST00000316676.8_Intron|ARHGAP19_ENST00000355366.5_Intron|ARHGAP19_ENST00000371027.1_3'UTR|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000453547.2_Intron	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CTGTGGGCAGGAATAACACCT	0.458																																																	0													103.0	88.0	92.0					10																	98985816		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.*63C>A	10.37:g.98985816G>T			A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	RNA	SNP	-	NULL	ENST00000358531.4	37	NULL	CCDS7454.2	10																																																																																			ARHGAP19	-	-	ENSG00000213390		0.458	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP19	HGNC	protein_coding	OTTHUMT00000049647.2	-	0.00	45	0	G	NM_032900		98985816	-1	tier1	-	no_errors	ENST00000487035	ensembl	human	known	74_37	rna	15.79	16	3	SNP	0.000	T
ARHGAP28	79822	genome.wustl.edu	37	18	6887184	6887184	+	Silent	SNP	A	A	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr18:6887184A>G	ENST00000383472.4	+	12	1586	c.1482A>G	c.(1480-1482)caA>caG	p.Q494Q	ARHGAP28_ENST00000531294.1_Silent_p.Q330Q|ARHGAP28_ENST00000400091.2_Silent_p.Q494Q|ARHGAP28_ENST00000418986.1_Silent_p.Q335Q|ARHGAP28_ENST00000532996.1_Silent_p.Q317Q|ARHGAP28_ENST00000419673.2_Silent_p.Q335Q|ARHGAP28_ENST00000314319.3_Silent_p.Q335Q|ARHGAP28_ENST00000262227.3_Silent_p.Q442Q			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	494	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TACAGTTTCAAGCCTTACACC	0.483																																																	0													153.0	128.0	137.0					18																	6887184		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1482A>G	18.37:g.6887184A>G			A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q494	ENST00000383472.4	37	c.1482		18																																																																																			ARHGAP28	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000088756		0.483	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0.00	41	0	A	XM_371108		6887184	+1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	silent	11.76	45	6	SNP	1.000	G
ARHGAP32	9743	genome.wustl.edu	37	11	128840479	128840479	+	Silent	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:128840479G>T	ENST00000310343.9	-	22	4586	c.4587C>A	c.(4585-4587)tcC>tcA	p.S1529S	ARHGAP32_ENST00000527272.1_Silent_p.S1180S|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Silent_p.S1180S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1529	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAAGACCCATGGAGGCTGGTG	0.532																																																	0													80.0	73.0	76.0					11																	128840479		2201	4297	6498	SO:0001819	synonymous_variant	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4587C>A	11.37:g.128840479G>T			I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.S1529	ENST00000310343.9	37	c.4587	CCDS44769.1	11																																																																																			ARHGAP32	-	NULL	ENSG00000134909		0.532	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	-	0.00	88	0	G	NM_014715		128840479	-1	tier1	-	no_errors	ENST00000310343	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.797	T
ARMCX4	100131755	genome.wustl.edu	37	X	100748610	100748610	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:100748610A>T	ENST00000423738.3	+	2	5236	c.5034A>T	c.(5032-5034)caA>caT	p.Q1678H		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	0						integral component of membrane (GO:0016021)				lung(1)	1						CTGGGAGCCAAGCCAGTGGAG	0.592																																																	0																																										SO:0001583	missense	0			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.5034A>T	X.37:g.100748610A>T	ENSP00000404304:p.Gln1678His		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.Q1678H	ENST00000423738.3	37	c.5034	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	4.474	0.087911	0.08583	.	.	ENSG00000196440	ENST00000423738	.	.	.	2.93	0.0705	0.14379	.	.	.	.	.	T	0.30479	0.0766	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26573	-1.0099	4	.	.	.	.	6.3923	0.21593	0.4225:0.0:0.5775:0.0	.	.	.	.	H	1782	.	.	Q	+	3	2	ARMCX4	100635266	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.126000	0.15769	-0.104000	0.12154	-0.291000	0.09656	CAA	ARMCX4	-	NULL	ENSG00000196440		0.592	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	-	0.00	82	0	A	NM_001256155		100748610	+1	tier1	-	no_errors	ENST00000423738	ensembl	human	putative	74_37	missense	15.38	88	16	SNP	0.000	T
ARNTL	406	genome.wustl.edu	37	11	13378285	13378285	+	Splice_Site	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:13378285G>T	ENST00000403290.1	+	6	495		c.e6-1		ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000389708.3_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like						circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|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)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGTTTTTTCAGAGAAAGCATG	0.368																																																	0													114.0	102.0	106.0					11																	13378285		2200	4294	6494	SO:0001630	splice_region_variant	0			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.141-1G>T	11.37:g.13378285G>T			A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Splice_Site	SNP	-	e2-1	ENST00000403290.1	37	c.141-1		11	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810918	0.70797	.	.	ENSG00000133794	ENST00000534544;ENST00000527998;ENST00000396441;ENST00000533520;ENST00000529825;ENST00000389707;ENST00000401424;ENST00000529388;ENST00000530357;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000482049;ENST00000339640	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.237	0.87001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARNTL	13334861	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.517000	0.81783	2.679000	0.91253	0.655000	0.94253	.	ARNTL	-	-	ENSG00000133794		0.368	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	ARNTL	HGNC	protein_coding	OTTHUMT00000319173.1	-	0.00	52	0	G	NM_001178	Intron	13378285	+1	tier1	-	no_errors	ENST00000403290	ensembl	human	known	74_37	splice_site	6.45	58	4	SNP	1.000	T
ATM	472	genome.wustl.edu	37	11	108106561	108106561	+	Splice_Site	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:108106561G>T	ENST00000452508.2	+	6	685	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	ATM_ENST00000278616.4_Splice_Site_p.E166*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	166					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACAGTGGTTAGGTATGTTTTG	0.378			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													214.0	216.0	215.0					11																	108106561		2201	4298	6499	SO:0001630	splice_region_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.496+1G>T	11.37:g.108106561G>T			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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.E166*	ENST00000452508.2	37	c.496	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.386122	0.97524	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	5.62	5.62	0.85841	.	0.170721	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	.	.	.	X	166	.	ENSP00000278616:E166X	E	+	1	0	ATM	107611771	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	5.374000	0.66167	2.810000	0.96702	0.585000	0.79938	GAA	ATM	-	NULL	ENSG00000149311		0.378	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0.00	75	0	G	NM_000051	Nonsense_Mutation	108106561	+1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	T
ATP11C	286410	genome.wustl.edu	37	X	138884448	138884448	+	Silent	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:138884448G>T	ENST00000327569.3	-	7	713	c.615C>A	c.(613-615)atC>atA	p.I205I	ATP11C_ENST00000370543.1_Silent_p.I205I|ATP11C_ENST00000359686.2_Silent_p.I205I|ATP11C_ENST00000370557.1_Silent_p.I202I|ATP11C_ENST00000361648.2_Silent_p.I205I	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	205					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I205I(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GGAGGGTATCGATGGATTCTG	0.398																																																	1	Substitution - coding silent(1)	large_intestine(1)											274.0	221.0	239.0					X																	138884448		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.615C>A	X.37:g.138884448G>T			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.I205	ENST00000327569.3	37	c.615	CCDS14668.1	X																																																																																			ATP11C	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000101974		0.398	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	-	0.00	65	0	G	NM_173694		138884448	-1	tier1	-	no_errors	ENST00000327569	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.996	T
ATP1A2	477	genome.wustl.edu	37	1	160093091	160093091	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:160093091A>C	ENST00000361216.3	+	4	355	c.266A>C	c.(265-267)aAg>aCg	p.K89T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.K89T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	89					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GAGTGGGTCAAGTTCTGCCGT	0.617																																																	0													182.0	183.0	183.0					1																	160093091		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.266A>C	1.37:g.160093091A>C	ENSP00000354490:p.Lys89Thr		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.K89T	ENST00000361216.3	37	c.266	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699650	0.88830	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	T;T	0.79940	-1.32;-1.32	5.24	5.24	0.73138	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91202	0.7228	H	0.95679	3.705	0.80722	D	1	D	0.62365	0.991	D	0.71656	0.974	D	0.93596	0.6926	10	0.87932	D	0	.	14.2733	0.66164	1.0:0.0:0.0:0.0	.	89	P50993	AT1A2_HUMAN	T	89	ENSP00000354490:K89T;ENSP00000376066:K89T	ENSP00000354490:K89T	K	+	2	0	ATP1A2	158359715	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.139000	0.94554	2.200000	0.70718	0.459000	0.35465	AAG	ATP1A2	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000018625		0.617	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	-	0.00	88	0	A	NM_000702		160093091	+1	tier1	-	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	32.61	62	30	SNP	1.000	C
ATP1A4	480	genome.wustl.edu	37	1	160134010	160134010	+	Silent	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:160134010G>T	ENST00000368081.4	+	7	1314	c.843G>T	c.(841-843)ctG>ctT	p.L281L		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	281					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGCCTCCCTGACGTCAGGCC	0.547																																																	0													184.0	151.0	162.0					1																	160134010		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.843G>T	1.37:g.160134010G>T			Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.L281	ENST00000368081.4	37	c.843	CCDS1197.1	1																																																																																			ATP1A4	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000132681		0.547	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	-	0.00	41	0	G	NM_144699		160134010	+1	tier1	-	no_errors	ENST00000368081	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	T
ATP4A	495	genome.wustl.edu	37	19	36041947	36041947	+	Silent	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:36041947G>A	ENST00000262623.3	-	20	2980	c.2952C>T	c.(2950-2952)ccC>ccT	p.P984P		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	984					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TGGGCATGCCGGGGCAGTAGC	0.597																																																	0													82.0	64.0	70.0					19																	36041947		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2952C>T	19.37:g.36041947G>A			O00738	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.P984	ENST00000262623.3	37	c.2952	CCDS12467.1	19																																																																																			ATP4A	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105675		0.597	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	-	0.00	61	0	G	NM_000704		36041947	-1	tier1	-	no_errors	ENST00000262623	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.233	A
B4GALT5	9334	genome.wustl.edu	37	20	48252991	48252991	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr20:48252991G>A	ENST00000371711.4	-	9	1212	c.1025C>T	c.(1024-1026)gCt>gTt	p.A342V		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	342					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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CCTCAGCAGAGCATACCTGTT	0.517																																																	0													153.0	132.0	139.0					20																	48252991		2203	4300	6503	SO:0001583	missense	0			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1025C>T	20.37:g.48252991G>A	ENSP00000360776:p.Ala342Val		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.A342V	ENST00000371711.4	37	c.1025	CCDS13420.1	20	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739006	0.49045	.	.	ENSG00000158470	ENST00000371711	T	0.35605	1.3	5.43	4.48	0.54585	.	0.194625	0.53938	N	0.000043	T	0.31295	0.0792	L	0.42245	1.32	0.22531	N	0.999019	P	0.40794	0.729	B	0.37451	0.25	T	0.12734	-1.0536	10	0.40728	T	0.16	-9.7111	14.2674	0.66129	0.0721:0.0:0.9279:0.0	.	342	O43286	B4GT5_HUMAN	V	342	ENSP00000360776:A342V	ENSP00000360776:A342V	A	-	2	0	B4GALT5	47686398	0.716000	0.27956	0.891000	0.34965	0.973000	0.67179	2.650000	0.46665	1.283000	0.44513	0.563000	0.77884	GCT	B4GALT5	-	pfam_Galactosyl_T_C	ENSG00000158470		0.517	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	HGNC	protein_coding	OTTHUMT00000080543.3		0.00	55	0	G	NM_004776		48252991	-1			no_errors	ENST00000371711	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.203	A
BCL9	607	genome.wustl.edu	37	1	147091363	147091363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:147091363G>T	ENST00000234739.3	+	8	2142	c.1402G>T	c.(1402-1404)Gag>Tag	p.E468*		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	468	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.E468K(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TATGACTCCCGAGCAGATAGC	0.498			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	1	Substitution - Missense(1)	large_intestine(1)											49.0	53.0	52.0					1																	147091363		2203	4300	6503	SO:0001587	stop_gained	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1402G>T	1.37:g.147091363G>T	ENSP00000234739:p.Glu468*		Q5T489	Nonsense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.E468*	ENST00000234739.3	37	c.1402	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.700962	0.99453	.	.	ENSG00000116128	ENST00000234739	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.0103	19.614	0.95622	0.0:0.0:1.0:0.0	.	.	.	.	X	468	.	ENSP00000234739:E468X	E	+	1	0	BCL9	145557987	1.000000	0.71417	0.974000	0.42286	0.969000	0.65631	9.411000	0.97342	2.873000	0.98535	0.561000	0.74099	GAG	BCL9	-	NULL	ENSG00000116128		0.498	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1		0.00	74	0	G	NM_004326		147091363	+1			no_errors	ENST00000234739	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	1.000	T
BMP7	655	genome.wustl.edu	37	20	55803343	55803343	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr20:55803343A>C	ENST00000395863.3	-	2	1058	c.553T>G	c.(553-555)Ttc>Gtc	p.F185V	BMP7_ENST00000395864.3_Missense_Mutation_p.F185V|BMP7_ENST00000450594.2_Missense_Mutation_p.F185V	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	185					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TCATTGTCGAAGCGTTCCCGG	0.547																																																	0													141.0	137.0	139.0					20																	55803343		2203	4300	6503	SO:0001583	missense	0				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.553T>G	20.37:g.55803343A>C	ENSP00000379204:p.Phe185Val		Q9H512|Q9NTQ7	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.F185V	ENST00000395863.3	37	c.553	CCDS13455.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.140632|3.140632	0.56936|0.56936	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594|ENST00000433911	T;T;T|.	0.64085|.	-0.08;-0.08;-0.08|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Transforming growth factor-beta, N-terminal (1);|.	0.043698|.	0.85682|.	D|.	0.000000|.	T|T	0.73961|0.73961	0.3654|0.3654	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999998|0.999998	P;B;P|.	0.41848|.	0.612;0.004;0.763|.	B;B;B|.	0.42163|.	0.334;0.038;0.378|.	T|T	0.74074|0.74074	-0.3782|-0.3782	10|5	0.16420|.	T|.	0.52|.	.|.	15.8419|15.8419	0.78852|0.78852	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	185;185;185|.	B1AKZ9;P18075;B1AL00|.	.;BMP7_HUMAN;.|.	V|R	185|70	ENSP00000379204:F185V;ENSP00000379205:F185V;ENSP00000398687:F185V|.	ENSP00000379204:F185V|.	F|L	-|-	1|2	0|0	BMP7|BMP7	55236750|55236750	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.993000|0.993000	0.82548|0.82548	3.838000|3.838000	0.55828|0.55828	2.137000|2.137000	0.66172|0.66172	0.533000|0.533000	0.62120|0.62120	TTC|CTT	BMP7	-	pfam_TGF-b_N	ENSG00000101144		0.547	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BMP7	HGNC	protein_coding	OTTHUMT00000079831.2	-	0.00	43	0	A			55803343	-1	tier1	-	no_errors	ENST00000395863	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	C
BMP8B	656	genome.wustl.edu	37	1	40230327	40230327	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:40230327A>G	ENST00000372827.3	-	4	1211	c.836T>C	c.(835-837)cTg>cCg	p.L279P	BMP8B_ENST00000397360.2_Missense_Mutation_p.L304P	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	279					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGCCTGCGGCAGCTCGTTGCT	0.652																																																	0													60.0	68.0	65.0					1																	40230327		2198	4297	6495	SO:0001583	missense	0			BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.836T>C	1.37:g.40230327A>G	ENSP00000361915:p.Leu279Pro		E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.L279P	ENST00000372827.3	37	c.836	CCDS444.1	1	.	.	.	.	.	.	.	.	.	.	A	7.506	0.653653	0.14580	.	.	ENSG00000116985	ENST00000372827;ENST00000397360	T;T	0.76578	-1.03;0.13	3.86	3.86	0.44501	Transforming growth factor-beta, C-terminal (1);	0.965208	0.08366	U	0.956867	T	0.75627	0.3875	M	0.68952	2.095	0.80722	D	1	B;B	0.32526	0.374;0.247	B;B	0.32149	0.141;0.086	T	0.65656	-0.6115	10	0.23302	T	0.38	.	11.8147	0.52202	1.0:0.0:0.0:0.0	.	304;279	E7EMY8;P34820	.;BMP8B_HUMAN	P	279;304	ENSP00000361915:L279P;ENSP00000380518:L304P	ENSP00000361915:L279P	L	-	2	0	BMP8B	40002914	1.000000	0.71417	0.995000	0.50966	0.037000	0.13140	3.434000	0.52841	1.621000	0.50320	0.456000	0.33151	CTG	BMP8B	-	NULL	ENSG00000116985		0.652	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP8B	HGNC	protein_coding	OTTHUMT00000025641.1	-	0.00	109	0	A	NM_001720		40230327	-1	tier1	-	no_errors	ENST00000372827	ensembl	human	known	74_37	missense	23.94	108	34	SNP	1.000	G
BMS1	9790	genome.wustl.edu	37	10	43292443	43292443	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:43292443C>A	ENST00000374518.5	+	10	1814	c.1751C>A	c.(1750-1752)gCt>gAt	p.A584D		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	584					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATTGCACAGCTGAAGAGGTG	0.453																																																	0													81.0	79.0	79.0					10																	43292443		2203	4300	6503	SO:0001583	missense	0			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1751C>A	10.37:g.43292443C>A	ENSP00000363642:p.Ala584Asp		Q5QPT5|Q86XJ9	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN	p.A584D	ENST00000374518.5	37	c.1751	CCDS7199.1	10	.	.	.	.	.	.	.	.	.	.	c	8.937	0.964897	0.18583	.	.	ENSG00000165733	ENST00000374518	T	0.25250	1.81	4.79	4.79	0.61399	.	0.331476	0.32401	N	0.006157	T	0.17789	0.0427	L	0.36672	1.1	0.33317	D	0.566876	P	0.43477	0.808	B	0.37267	0.245	T	0.14504	-1.0470	10	0.13108	T	0.6	.	13.2551	0.60074	0.1588:0.8412:0.0:0.0	.	584	Q14692	BMS1_HUMAN	D	584	ENSP00000363642:A584D	ENSP00000363642:A584D	A	+	2	0	BMS1	42612449	1.000000	0.71417	0.999000	0.59377	0.412000	0.31113	2.643000	0.46604	2.381000	0.81170	0.549000	0.68633	GCT	BMS1	-	superfamily_P-loop_NTPase	ENSG00000165733		0.453	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	HGNC	protein_coding	OTTHUMT00000047690.2	-	0.00	56	0	C	NM_014753		43292443	+1	tier1	-	no_errors	ENST00000374518	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.984	A
BRINP1	1620	genome.wustl.edu	37	9	122004469	122004469	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:122004469C>A	ENST00000265922.3	-	4	896	c.435G>T	c.(433-435)atG>atT	p.M145I	BRINP1_ENST00000373964.2_Missense_Mutation_p.M145I	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	145	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GACTTTTGTCCATATACATGG	0.498																																																	0													107.0	87.0	94.0					9																	122004469		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.435G>T	9.37:g.122004469C>A	ENSP00000265922:p.Met145Ile		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.M145I	ENST00000265922.3	37	c.435	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978704	0.74360	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.82255	-1.59;-1.59	5.64	5.64	0.86602	Membrane attack complex component/perforin (MACPF) domain (2);	0.036313	0.85682	D	0.000000	T	0.80037	0.4550	L	0.40543	1.245	0.80722	D	1	B;B	0.15141	0.012;0.008	B;B	0.12156	0.007;0.007	T	0.74250	-0.3726	10	0.62326	D	0.03	-24.8709	20.0666	0.97706	0.0:1.0:0.0:0.0	.	145;145	O60477-2;O60477	.;DBC1_HUMAN	I	145	ENSP00000265922:M145I;ENSP00000363075:M145I	ENSP00000265922:M145I	M	-	3	0	DBC1	121044290	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.826000	0.97356	0.561000	0.74099	ATG	BRINP1	-	pfam_MACPF,smart_MACPF	ENSG00000078725		0.498	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0.00	72	0	C	NM_014618		122004469	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	10.34	78	9	SNP	1.000	A
BSN	8927	genome.wustl.edu	37	3	49692822	49692822	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:49692822C>T	ENST00000296452.4	+	5	5947	c.5833C>T	c.(5833-5835)Cgg>Tgg	p.R1945W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1945					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTATGGTCCCCGGGACCCTGA	0.687																																																	0													26.0	28.0	27.0					3																	49692822		2203	4297	6500	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5833C>T	3.37:g.49692822C>T	ENSP00000296452:p.Arg1945Trp		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R1945W	ENST00000296452.4	37	c.5833	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	9.152	1.016572	0.19355	.	.	ENSG00000164061	ENST00000296452	T	0.19806	2.12	5.43	3.56	0.40772	.	0.280236	0.33834	N	0.004509	T	0.39911	0.1096	L	0.57536	1.79	0.31215	N	0.698219	D	0.89917	1.0	D	0.65573	0.936	T	0.49293	-0.8955	10	0.87932	D	0	-10.8043	13.5201	0.61563	0.6012:0.3988:0.0:0.0	.	1945	Q9UPA5	BSN_HUMAN	W	1945	ENSP00000296452:R1945W	ENSP00000296452:R1945W	R	+	1	2	BSN	49667826	0.005000	0.15991	0.831000	0.32960	0.637000	0.38172	1.689000	0.37700	0.611000	0.30052	0.561000	0.74099	CGG	BSN	-	NULL	ENSG00000164061		0.687	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1		0.00	35	0	C	NM_003458		49692822	+1			no_errors	ENST00000296452	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.660	T
BVES	11149	genome.wustl.edu	37	6	105573325	105573325	+	Silent	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:105573325A>C	ENST00000314641.5	-	4	696	c.480T>G	c.(478-480)acT>acG	p.T160T	BVES_ENST00000336775.5_Silent_p.T160T|BVES_ENST00000446408.2_Silent_p.T160T	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	160					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTGCAGCATAAGTTTGGCCCT	0.418																																																	0													164.0	165.0	164.0					6																	105573325		2203	4300	6503	SO:0001819	synonymous_variant	0			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.480T>G	6.37:g.105573325A>C			A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Silent	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.T160	ENST00000314641.5	37	c.480	CCDS5051.1	6																																																																																			BVES	-	pfam_Popeye_prot,superfamily_cNMP-bd-like	ENSG00000112276		0.418	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BVES	HGNC	protein_coding	OTTHUMT00000406075.1	-	0.00	53	0	A	NM_147147		105573325	-1	tier1	-	no_errors	ENST00000314641	ensembl	human	known	74_37	silent	40.51	46	32	SNP	0.002	C
MALRD1	340895	genome.wustl.edu	37	10	19498476	19498476	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:19498476G>A	ENST00000454679.2	+	3	746	c.746G>A	c.(745-747)cGc>cAc	p.R249H				Q5VYJ5	MALR1_HUMAN		249	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						TTTGGAAAGCGCATTTATAGG	0.463																																																	0																																										SO:0001583	missense	0																														ENST00000454679.2:c.746G>A	10.37:g.19498476G>A	ENSP00000412763:p.Arg249His		B7ZBP2	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom	p.R249H	ENST00000454679.2	37	c.746		10	.	.	.	.	.	.	.	.	.	.	G	6.412	0.444056	0.12164	.	.	ENSG00000204740	ENST00000377266;ENST00000454679	T;T	0.01963	4.53;4.53	4.87	2.54	0.30619	.	0.328476	0.37095	N	0.002248	T	0.04092	0.0114	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54662	-0.8260	6	.	.	.	-12.5628	9.0652	0.36458	0.8496:0.0:0.1504:0.0	.	.	.	.	H	262;249	ENSP00000366477:R262H;ENSP00000412763:R249H	.	R	+	2	0	C10orf112	19538482	1.000000	0.71417	0.908000	0.35775	0.152000	0.21847	4.819000	0.62664	0.357000	0.24183	-0.247000	0.11927	CGC	C10orf112	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000204740		0.463	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		-	0.00	72	0	G			19498476	+1	tier1	-	no_errors	ENST00000454679	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.995	A
MALRD1	340895	genome.wustl.edu	37	10	19571969	19571969	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:19571969A>G	ENST00000454679.2	+	6	1166	c.1166A>G	c.(1165-1167)gAg>gGg	p.E389G				Q5VYJ5	MALR1_HUMAN		389	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						TGCAGCTTTGAGAAAAGAAGC	0.413																																																	0																																										SO:0001583	missense	0																														ENST00000454679.2:c.1166A>G	10.37:g.19571969A>G	ENSP00000412763:p.Glu389Gly		B7ZBP2	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom	p.E389G	ENST00000454679.2	37	c.1166		10	.	.	.	.	.	.	.	.	.	.	A	17.63	3.436259	0.62955	.	.	ENSG00000204740	ENST00000377266;ENST00000454679	T;T	0.04234	3.67;3.67	4.9	4.9	0.64082	.	.	.	.	.	T	0.11750	0.0286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04693	-1.0933	5	.	.	.	.	13.6463	0.62283	1.0:0.0:0.0:0.0	.	.	.	.	G	402;389	ENSP00000366477:E402G;ENSP00000412763:E389G	.	E	+	2	0	C10orf112	19611975	1.000000	0.71417	0.956000	0.39512	0.593000	0.36681	5.900000	0.69853	2.047000	0.60756	0.459000	0.35465	GAG	C10orf112	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000204740		0.413	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		-	0.00	22	0	A			19571969	+1	tier1	-	no_errors	ENST00000454679	ensembl	human	known	74_37	missense	43.48	13	10	SNP	0.988	G
C10orf113	387638	genome.wustl.edu	37	10	21435419	21435419	+	Silent	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:21435419T>G	ENST00000534331.1	-	1	69	c.19A>C	c.(19-21)Aga>Cga	p.R7R	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_5'UTR|C10orf113_ENST00000529198.1_Silent_p.R7R	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	7										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						GAGTAGATTCTTCTTTCACTT	0.383																																																	0													120.0	114.0	116.0					10																	21435419		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.19A>C	10.37:g.21435419T>G			B9EIM9|E9PRX7	Silent	SNP	NULL	p.R7	ENST00000534331.1	37	c.19	CCDS31162.2	10																																																																																			C10orf113	-	NULL	ENSG00000204683		0.383	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf113	HGNC	protein_coding	OTTHUMT00000047108.3	-	0.00	64	0	T	NM_001010896		21435419	-1	tier1	-	no_errors	ENST00000534331	ensembl	human	known	74_37	silent	10.00	63	7	SNP	0.000	G
C16orf58	64755	genome.wustl.edu	37	16	31519197	31519197	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:31519197C>T	ENST00000327237.2	-	2	342	c.303G>A	c.(301-303)gcG>gcA	p.A101A	C16orf58_ENST00000430477.2_Intron|C16orf58_ENST00000570164.1_Silent_p.A101A|C16orf58_ENST00000567994.1_Silent_p.A56A|RP11-452L6.7_ENST00000569782.1_RNA			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	101						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TGGAAGCAAACGCCTGGAGAA	0.572																																																	0													24.0	21.0	22.0					16																	31519197		2170	4259	6429	SO:0001819	synonymous_variant	0			AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.303G>A	16.37:g.31519197C>T			Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Silent	SNP	pfam_RUS2/WXR1	p.A101	ENST00000327237.2	37	c.303	CCDS10715.1	16																																																																																			C16orf58	-	pfam_RUS2/WXR1	ENSG00000140688		0.572	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf58	HGNC	protein_coding	OTTHUMT00000255629.2		0.00	69	0	C	NM_022744		31519197	-1			no_errors	ENST00000327237	ensembl	human	known	74_37	silent	7.27	50	4	SNP	0.984	T
C1orf198	84886	genome.wustl.edu	37	1	231004079	231004079	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:231004079C>T	ENST00000366663.5	-	1	320	c.180G>A	c.(178-180)cgG>cgA	p.R60R	C1orf198_ENST00000470540.1_Silent_p.R22R|C1orf198_ENST00000427697.2_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	60						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGGGCGGCAGCCGCGCCCACT	0.692																																																	0													19.0	22.0	21.0					1																	231004079		2198	4299	6497	SO:0001819	synonymous_variant	0			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.180G>A	1.37:g.231004079C>T			A8K8R8|B3KTW1|G5EA08	Silent	SNP	NULL	p.R60	ENST00000366663.5	37	c.180	CCDS1587.1	1																																																																																			C1orf198	-	NULL	ENSG00000119280		0.692	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf198	HGNC	protein_coding	OTTHUMT00000092236.2		0.00	28	0	C	NM_032800		231004079	-1			no_errors	ENST00000366663	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T
C1orf101	257044	genome.wustl.edu	37	1	244780851	244780851	+	Silent	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:244780851T>G	ENST00000366534.4	+	20	2565	c.2511T>G	c.(2509-2511)tcT>tcG	p.S837S	C1orf101_ENST00000366533.4_Intron|C1orf101_ENST00000366531.3_Silent_p.S686S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	837						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACTGTTTTTCTTATGCTATTG	0.323																																																	0													180.0	144.0	155.0					1																	244780851		692	1590	2282	SO:0001819	synonymous_variant	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2511T>G	1.37:g.244780851T>G			B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	NULL	p.S686	ENST00000366534.4	37	c.2058	CCDS44340.1	1																																																																																			C1orf101	-	NULL	ENSG00000179397		0.323	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	-	0.00	75	0	T	NM_173807		244780851	+1	tier1	-	no_errors	ENST00000366531	ensembl	human	known	74_37	silent	43.04	45	34	SNP	0.572	G
CACNA1C	775	genome.wustl.edu	37	12	2706457	2706457	+	Splice_Site	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:2706457T>G	ENST00000347598.4	+	21	2853		c.e21+2		CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000335762.5_Splice_Site	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCTGAAGGTAAAGCCCCCA	0.493																																																	0													172.0	177.0	175.0					12																	2706457		1936	4143	6079	SO:0001630	splice_region_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2853+2T>G	12.37:g.2706457T>G			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Splice_Site	SNP	-	e21+2	ENST00000347598.4	37	c.2853+2	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583429	0.86748	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000347598;ENST00000399606;ENST00000344100;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1687	0.72850	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1C	2576718	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.235000	0.73313	0.533000	0.62120	.	CACNA1C	-	-	ENSG00000151067		0.493	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0.00	107	0	T	NM_000719	Intron	2706457	+1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	splice_site	8.33	99	9	SNP	1.000	G
CAPRIN2	65981	genome.wustl.edu	37	12	30862907	30862907	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:30862907G>T	ENST00000298892.5	-	17	3913	c.3163C>A	c.(3163-3165)Cac>Aac	p.H1055N	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.H771N|CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.H1105N	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCTCCCCTGTGCAGACGTAAC	0.418																																																	0													112.0	103.0	106.0					12																	30862907		2203	4300	6503	SO:0001583	missense	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.3163C>A	12.37:g.30862907G>T	ENSP00000298892:p.His1055Asn			Missense_Mutation	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.H1105N	ENST00000298892.5	37	c.3313	CCDS8720.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720577	0.89205	.	.	ENSG00000110888	ENST00000298892;ENST00000251071;ENST00000308433	D;D;D	0.85702	-2.02;-2.02;-2.02	5.4	5.4	0.78164	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.044917	0.85682	D	0.000000	D	0.89931	0.6858	L	0.39326	1.205	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.995	D	0.90660	0.4589	10	0.87932	D	0	-11.5127	19.5286	0.95215	0.0:0.0:1.0:0.0	.	1105;1055	Q6IMN6;Q6IMN6-2	CAPR2_HUMAN;.	N	1055;1105;771	ENSP00000298892:H1055N;ENSP00000251071:H1105N;ENSP00000309785:H771N	ENSP00000251071:H1105N	H	-	1	0	CAPRIN2	30754174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.556000	0.98127	2.682000	0.91365	0.655000	0.94253	CAC	CAPRIN2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000110888		0.418	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000402778.1		0.00	64	0	G	NM_023925		30862907	-1			no_errors	ENST00000251071	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
CASZ1	54897	genome.wustl.edu	37	1	10718606	10718606	+	Silent	SNP	G	G	C	rs151200081		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:10718606G>C	ENST00000377022.3	-	7	1685	c.1368C>G	c.(1366-1368)gcC>gcG	p.A456A	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.A456A	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	456					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTTCAGTGACGGCTGGTTTAT	0.597																																																	0													88.0	83.0	85.0					1																	10718606		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1368C>G	1.37:g.10718606G>C			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A456	ENST00000377022.3	37	c.1368	CCDS41246.1	1																																																																																			CASZ1	-	NULL	ENSG00000130940		0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0.00	45	0	G	NM_017766		10718606	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	silent	5.43	86	5	SNP	1.000	C
CASZ1	54897	genome.wustl.edu	37	1	10713952	10713952	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:10713952C>A	ENST00000377022.3	-	11	2479	c.2162G>T	c.(2161-2163)aGc>aTc	p.S721I	CASZ1_ENST00000344008.5_Missense_Mutation_p.S721I|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	721					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTCGTCGTTGCTGGACTCCTC	0.687																																																	0													57.0	58.0	58.0					1																	10713952		2203	4300	6503	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2162G>T	1.37:g.10713952C>A	ENSP00000366221:p.Ser721Ile		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S721I	ENST00000377022.3	37	c.2162	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826810	0.90955	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.7	4.7	0.59300	.	0.156269	0.64402	D	0.000001	T	0.75503	0.3858	L	0.51422	1.61	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.996;0.982	T	0.77443	-0.2586	9	0.62326	D	0.03	-33.8103	18.5325	0.90997	0.0:1.0:0.0:0.0	.	745;721;721	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	I	721	.	ENSP00000339445:S721I	S	-	2	0	CASZ1	10636539	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.624000	0.67764	2.551000	0.86045	0.561000	0.74099	AGC	CASZ1	-	NULL	ENSG00000130940		0.687	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2		0.00	18	0	C	NM_017766		10713952	-1			no_errors	ENST00000377022	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	A
CASZ1	54897	genome.wustl.edu	37	1	10715741	10715741	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:10715741G>T	ENST00000377022.3	-	9	1947	c.1630C>A	c.(1630-1632)Ctc>Atc	p.L544I	CASZ1_ENST00000344008.5_Missense_Mutation_p.L544I|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	544					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTCCCATTGAGGTGGCAGCCG	0.642																																																	0													137.0	98.0	111.0					1																	10715741		2203	4299	6502	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1630C>A	1.37:g.10715741G>T	ENSP00000366221:p.Leu544Ile		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L544I	ENST00000377022.3	37	c.1630	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.148435	0.94603	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.32	4.32	0.51571	.	0.123230	0.56097	D	0.000029	T	0.65037	0.2653	N	0.22421	0.69	0.50313	D	0.999863	D;D;D	0.76494	0.999;0.999;0.994	D;D;D	0.87578	0.993;0.998;0.992	T	0.70781	-0.4779	9	0.66056	D	0.02	-32.5081	17.7234	0.88358	0.0:0.0:1.0:0.0	.	568;544;544	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	I	544	.	ENSP00000339445:L544I	L	-	1	0	CASZ1	10638328	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.262000	0.95591	2.352000	0.79861	0.561000	0.74099	CTC	CASZ1	-	NULL	ENSG00000130940		0.642	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2		0.00	68	0	G	NM_017766		10715741	-1			no_errors	ENST00000377022	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
CASZ1	54897	genome.wustl.edu	37	1	10718611	10718611	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:10718611G>C	ENST00000377022.3	-	7	1680	c.1363C>G	c.(1363-1365)Cca>Gca	p.P455A	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.P455A	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	455					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTGACGGCTGGTTTATCTGTG	0.592																																																	0													89.0	84.0	86.0					1																	10718611		2203	4300	6503	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1363C>G	1.37:g.10718611G>C	ENSP00000366221:p.Pro455Ala		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P455A	ENST00000377022.3	37	c.1363	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762800	0.89932	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	N	0.22421	0.69	0.51233	D	0.999914	D;P;P;D	0.89917	0.989;0.942;0.942;1.0	P;P;P;D	0.85130	0.73;0.666;0.666;0.997	T	0.68853	-0.5299	9	0.62326	D	0.03	-5.6658	15.7558	0.78021	0.0:0.0:1.0:0.0	.	479;455;455;455	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	A	455	.	ENSP00000339445:P455A	P	-	1	0	CASZ1	10641198	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.208000	0.77907	2.237000	0.73441	0.655000	0.94253	CCA	CASZ1	-	NULL	ENSG00000130940		0.592	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0.00	41	0	G	NM_017766		10718611	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	missense	5.38	88	5	SNP	1.000	C
CCDC122	160857	genome.wustl.edu	37	13	44442890	44442890	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:44442890C>A	ENST00000444614.3	-	4	354	c.96G>T	c.(94-96)aaG>aaT	p.K32N	CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Missense_Mutation_p.K32N	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	32										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		ATTGTTGTTGCTTTGCAACTT	0.284																																																	0													48.0	46.0	47.0					13																	44442890		2195	4281	6476	SO:0001583	missense	0			AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.96G>T	13.37:g.44442890C>A	ENSP00000407763:p.Lys32Asn		B2RP70|B7ZMI9|Q96MV0	Missense_Mutation	SNP	NULL	p.K32N	ENST00000444614.3	37	c.96	CCDS9390.2	13	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541692	0.65198	.	.	ENSG00000151773	ENST00000444614;ENST00000281508	T;T	0.42900	0.96;0.96	5.56	1.04	0.20106	.	0.313632	0.31041	N	0.008372	T	0.43500	0.1250	M	0.61703	1.905	0.30364	N	0.783497	P;P	0.44429	0.782;0.835	P;P	0.46172	0.506;0.453	T	0.50136	-0.8863	10	0.72032	D	0.01	-12.4512	9.6253	0.39746	0.0:0.7414:0.0:0.2586	.	32;32	B7ZMJ0;Q5T0U0	.;CC122_HUMAN	N	32	ENSP00000407763:K32N;ENSP00000281508:K32N	ENSP00000281508:K32N	K	-	3	2	CCDC122	43340890	0.937000	0.31787	0.999000	0.59377	0.977000	0.68977	-0.243000	0.08915	0.081000	0.16988	0.460000	0.39030	AAG	CCDC122	-	NULL	ENSG00000151773		0.284	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CCDC122	HGNC	protein_coding	OTTHUMT00000276172.4	-	0.00	29	0	C	NM_144974		44442890	-1	tier1	-	no_errors	ENST00000281508	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.999	A
CDC25A	993	genome.wustl.edu	37	3	48228201	48228201	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:48228201G>A	ENST00000302506.3	-	2	647	c.239C>T	c.(238-240)aCa>aTa	p.T80I	CDC25A_ENST00000351231.3_Missense_Mutation_p.T80I	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	80					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCTGAATCTGTTGACTCGGA	0.428																																																	0													88.0	76.0	80.0					3																	48228201		2203	4298	6501	SO:0001583	missense	0			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.239C>T	3.37:g.48228201G>A	ENSP00000303706:p.Thr80Ile		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.T80I	ENST00000302506.3	37	c.239	CCDS2760.1	3	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412910	0.62511	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342;ENST00000437972	T;T;T;T	0.48836	2.43;2.39;1.83;0.8	5.95	5.95	0.96441	.	0.098166	0.64402	D	0.000001	T	0.61110	0.2321	L	0.47716	1.5	0.41792	D	0.989871	D;D	0.69078	0.997;0.991	D;P	0.65010	0.931;0.854	T	0.60777	-0.7196	10	0.59425	D	0.04	.	15.8933	0.79318	0.0:0.0:1.0:0.0	.	80;80	P30304-2;P30304	.;MPIP1_HUMAN	I	80	ENSP00000303706:T80I;ENSP00000343166:T80I;ENSP00000416483:T80I;ENSP00000404285:T80I	ENSP00000303706:T80I	T	-	2	0	CDC25A	48203205	0.997000	0.39634	0.517000	0.27799	0.413000	0.31143	5.307000	0.65762	2.824000	0.97209	0.655000	0.94253	ACA	CDC25A	-	NULL	ENSG00000164045		0.428	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25A	HGNC	protein_coding	OTTHUMT00000257512.2		0.00	63	0	G	NM_001789		48228201	-1			no_errors	ENST00000302506	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.812	A
CDK6	1021	genome.wustl.edu	37	7	92247520	92247520	+	Splice_Site	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:92247520C>T	ENST00000265734.4	-	7	1111	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	CDK6_ENST00000424848.2_Splice_Site_p.V234M	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGTCCAATCACGCTACAAAAG	0.443			T	MLLT10	ALL																																			Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0													98.0	96.0	97.0					7																	92247520		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.699-1G>A	7.37:g.92247520C>T			A4D1G0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V234M	ENST00000265734.4	37	c.700	CCDS5628.1	7	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794602	0.50102	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.66638	-0.22;-0.22	5.81	3.99	0.46301	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110389	0.64402	D	0.000009	T	0.55924	0.1951	L	0.33624	1.015	0.80722	D	1	P	0.51449	0.945	B	0.42188	0.379	T	0.56269	-0.8007	10	0.48119	T	0.1	-16.6338	12.6632	0.56826	0.0:0.8648:0.0:0.1352	.	234	Q00534	CDK6_HUMAN	M	234	ENSP00000265734:V234M;ENSP00000397087:V234M	ENSP00000265734:V234M	V	-	1	0	CDK6	92085456	0.896000	0.30565	0.400000	0.26346	0.563000	0.35712	1.795000	0.38784	0.776000	0.33473	0.655000	0.94253	GTG	CDK6	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105810		0.443	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK6	HGNC	protein_coding	OTTHUMT00000254605.2	-	0.00	76	0	C		Missense_Mutation	92247520	-1	tier1	-	no_errors	ENST00000265734	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.931	T
CHRM5	1133	genome.wustl.edu	37	15	34356456	34356456	+	Missense_Mutation	SNP	G	G	T	rs367778274		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:34356456G>T	ENST00000383263.5	+	3	2208	c.1538G>T	c.(1537-1539)cGa>cTa	p.R513L	CHRM5_ENST00000557872.1_Missense_Mutation_p.R513L	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	513					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTTCTCTGCCGATGGAAAAAG	0.463																																																	0													70.0	76.0	74.0					15																	34356456		2201	4298	6499	SO:0001583	missense	0				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1538G>T	15.37:g.34356456G>T	ENSP00000372750:p.Arg513Leu		Q96RG7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M5_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.R513L	ENST00000383263.5	37	c.1538	CCDS10031.1	15	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203444	0.38905	.	.	ENSG00000184984	ENST00000383263	T	0.37235	1.21	5.45	3.6	0.41247	.	0.199984	0.45126	D	0.000397	T	0.30916	0.0780	L	0.43923	1.385	0.44194	D	0.997015	B	0.25048	0.117	B	0.29716	0.106	T	0.13335	-1.0513	10	0.72032	D	0.01	-2.9328	8.396	0.32557	0.2857:0.0:0.7142:0.0	.	513	P08912	ACM5_HUMAN	L	513	ENSP00000372750:R513L	ENSP00000372750:R513L	R	+	2	0	CHRM5	32143748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.201000	0.42734	0.875000	0.35847	0.650000	0.86243	CGA	CHRM5	-	NULL	ENSG00000184984		0.463	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM5	HGNC	protein_coding	OTTHUMT00000251521.2	-	0.00	49	0	G			34356456	+1	tier1	-	no_errors	ENST00000383263	ensembl	human	known	74_37	missense	44.00	14	11	SNP	1.000	T
CHST3	9469	genome.wustl.edu	37	10	73767882	73767882	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:73767882C>T	ENST00000373115.4	+	3	1530	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	365					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GCTGCGGGGCCGCTACATGCT	0.731																																																	0													5.0	5.0	5.0					10																	73767882		1835	3535	5370	SO:0001583	missense	0			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.1093C>T	10.37:g.73767882C>T	ENSP00000362207:p.Arg365Cys		O75099|Q52M30	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.R365C	ENST00000373115.4	37	c.1093	CCDS7312.1	10	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474621	0.84640	.	.	ENSG00000122863	ENST00000373115	D	0.83755	-1.76	5.55	5.55	0.83447	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92459	0.7606	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93582	0.6913	10	0.87932	D	0	-27.2391	13.4685	0.61270	0.1563:0.8437:0.0:0.0	.	365	Q7LGC8	CHST3_HUMAN	C	365	ENSP00000362207:R365C	ENSP00000362207:R365C	R	+	1	0	CHST3	73437888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.194000	0.51005	2.630000	0.89119	0.561000	0.74099	CGC	CHST3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000122863		0.731	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1		0.00	23	0	C	NM_004273		73767882	+1			no_errors	ENST00000373115	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T
CLASP1	23332	genome.wustl.edu	37	2	122120766	122120766	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:122120766G>T	ENST00000263710.4	-	37	4577	c.4188C>A	c.(4186-4188)caC>caA	p.H1396Q	CLASP1_ENST00000541859.1_Missense_Mutation_p.H1113Q|CLASP1_ENST00000409078.3_Missense_Mutation_p.H1329Q|CLASP1_ENST00000397587.3_Missense_Mutation_p.H1336Q|CLASP1_ENST00000541377.1_Missense_Mutation_p.H1335Q|CLASP1_ENST00000455322.2_Missense_Mutation_p.H1352Q|CLASP1_ENST00000545861.1_Missense_Mutation_p.H1103Q	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1396	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGGAGTCTTTGTGGGCTTCCA	0.478																																																	0													75.0	72.0	73.0					2																	122120766		1944	4135	6079	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4188C>A	2.37:g.122120766G>T	ENSP00000263710:p.His1396Gln		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.H1396Q	ENST00000263710.4	37	c.4188		2	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261668	0.59431	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.49	2.68	0.31781	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	M	0.76002	2.32	0.51233	D	0.999912	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.997;0.997;0.998	T	0.75668	-0.3238	10	0.72032	D	0.01	-0.569	9.3862	0.38345	0.3945:0.0:0.6055:0.0	.	1329;1336;1396	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	Q	1396;1352;1336;1335;1113;1329;1103	ENSP00000263710:H1396Q;ENSP00000389372:H1352Q;ENSP00000380717:H1336Q;ENSP00000441625:H1335Q;ENSP00000441770:H1113Q;ENSP00000386442:H1329Q;ENSP00000438620:H1103Q	ENSP00000263710:H1396Q	H	-	3	2	CLASP1	121837236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.071000	0.41500	0.800000	0.34041	0.563000	0.77884	CAC	CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.478	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		-	0.00	61	0	G	NM_015282		122120766	-1	tier1	-	no_errors	ENST00000263710	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.999	T
CLSTN3	9746	genome.wustl.edu	37	12	7310201	7310201	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:7310201G>T	ENST00000266546.6	+	17	3094	c.2644G>T	c.(2644-2646)Ggg>Tgg	p.G882W	CLSTN3_ENST00000537408.1_Missense_Mutation_p.G894W|CLSTN3_ENST00000331148.5_3'UTR	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	882					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AGGGGCCGGCGGGCCTCCAGG	0.637																																																	0													28.0	28.0	28.0					12																	7310201		2203	4299	6502	SO:0001583	missense	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2644G>T	12.37:g.7310201G>T	ENSP00000266546:p.Gly882Trp		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G882W	ENST00000266546.6	37	c.2644	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428569	0.43122	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.34275	1.37;1.37	5.02	3.13	0.36017	.	0.307768	0.26136	N	0.026132	T	0.40015	0.1100	N	0.14661	0.345	0.43942	D	0.996601	D;D;D	0.89917	1.0;0.974;0.974	D;P;B	0.87578	0.998;0.55;0.422	T	0.33214	-0.9877	10	0.66056	D	0.02	-16.4348	10.6793	0.45804	0.0726:0.1319:0.7955:0.0	.	224;894;882	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	W	882;894	ENSP00000266546:G882W;ENSP00000440679:G894W	ENSP00000266546:G882W	G	+	1	0	CLSTN3	7201468	0.973000	0.33851	0.062000	0.19696	0.043000	0.13939	2.088000	0.41663	0.663000	0.31027	0.462000	0.41574	GGG	CLSTN3	-	NULL	ENSG00000139182		0.637	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	-	0.00	34	0	G	NM_014718		7310201	+1	tier1	-	no_errors	ENST00000266546	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.908	T
CNTLN	54875	genome.wustl.edu	37	9	17340914	17340914	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:17340914G>T	ENST00000380647.3	+	11	1818	c.1734G>T	c.(1732-1734)gaG>gaT	p.E578D	CNTLN_ENST00000425824.1_Missense_Mutation_p.E578D|CNTLN_ENST00000262360.5_Missense_Mutation_p.E578D			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	578					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGTAAAAGAGCAATTAAAAC	0.403																																																	0													91.0	85.0	87.0					9																	17340914		1922	4138	6060	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1734G>T	9.37:g.17340914G>T	ENSP00000370021:p.Glu578Asp		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E578D	ENST00000380647.3	37	c.1734	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194144	0.58017	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.15487	2.42;2.42;2.42	5.4	4.5	0.54988	.	.	.	.	.	T	0.19967	0.0480	M	0.67953	2.075	0.38711	D	0.953227	P;P;P	0.45715	0.865;0.756;0.756	B;B;B	0.43478	0.421;0.28;0.28	T	0.10086	-1.0645	9	0.17832	T	0.49	.	10.1153	0.42587	0.1532:0.0:0.8468:0.0	.	578;578;578	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	D	578	ENSP00000370021:E578D;ENSP00000392798:E578D;ENSP00000262360:E578D	ENSP00000262360:E578D	E	+	3	2	CNTLN	17330914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.229000	0.42990	1.265000	0.44215	0.591000	0.81541	GAG	CNTLN	-	NULL	ENSG00000044459		0.403	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3		0.00	73	0	G	NM_017738		17340914	+1			no_errors	ENST00000380647	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
CNTN4	152330	genome.wustl.edu	37	3	3072641	3072641	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:3072641G>A	ENST00000397461.1	+	15	2149	c.1765G>A	c.(1765-1767)Gca>Aca	p.A589T	CNTN4_ENST00000418658.1_Missense_Mutation_p.A589T|CNTN4_ENST00000397459.2_Missense_Mutation_p.A261T|CNTN4_ENST00000427331.1_Missense_Mutation_p.A589T|CNTN4_ENST00000448906.2_Missense_Mutation_p.A261T|CNTN4_ENST00000358480.3_Missense_Mutation_p.A370T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	589					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATCTGCTGCTGCAGACCTGAT	0.428																																																	0													187.0	174.0	178.0					3																	3072641		2203	4300	6503	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1765G>A	3.37:g.3072641G>A	ENSP00000380602:p.Ala589Thr		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A589T	ENST00000397461.1	37	c.1765	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740320	0.30865	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.13	5.13	0.70059	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.253191	0.39687	N	0.001297	T	0.38931	0.1059	L	0.53561	1.675	0.40074	D	0.976054	P;P;P	0.45396	0.454;0.51;0.857	B;P;P	0.45946	0.347;0.479;0.498	T	0.17684	-1.0361	10	0.39692	T	0.17	.	18.9723	0.92719	0.0:0.0:1.0:0.0	.	588;589;589	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	T	589;589;589;370;261;261	ENSP00000396010:A589T;ENSP00000380602:A589T;ENSP00000413642:A589T;ENSP00000351267:A370T;ENSP00000380600:A261T;ENSP00000392077:A261T	ENSP00000351267:A370T	A	+	1	0	CNTN4	3047641	1.000000	0.71417	0.482000	0.27366	0.385000	0.30292	3.927000	0.56499	2.546000	0.85860	0.655000	0.94253	GCA	CNTN4	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000144619		0.428	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	-	0.00	50	0	G			3072641	+1	tier1	-	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.677	A
CNTN3	5067	genome.wustl.edu	37	3	74334638	74334638	+	Missense_Mutation	SNP	C	C	A	rs199931035	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:74334638C>A	ENST00000263665.6	-	19	2549	c.2522G>T	c.(2521-2523)cGg>cTg	p.R841L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	841	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATTCCAGTACCGCACCTGGTG	0.478																																																	0													132.0	120.0	124.0					3																	74334638		2203	4300	6503	SO:0001583	missense	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2522G>T	3.37:g.74334638C>A	ENSP00000263665:p.Arg841Leu		B9EK50|Q9H039	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.R841L	ENST00000263665.6	37	c.2522	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893106	0.33442	.	.	ENSG00000113805	ENST00000263665	T	0.58060	0.36	5.28	4.41	0.53225	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.199870	0.43579	D	0.000545	T	0.47210	0.1433	L	0.53729	1.69	0.47441	D	0.999426	B	0.02656	0.0	B	0.09377	0.004	T	0.38564	-0.9655	10	0.23302	T	0.38	.	14.0478	0.64714	0.0:0.9269:0.0:0.0731	.	841	Q9P232	CNTN3_HUMAN	L	841	ENSP00000263665:R841L	ENSP00000263665:R841L	R	-	2	0	CNTN3	74417328	0.001000	0.12720	1.000000	0.80357	0.952000	0.60782	0.308000	0.19314	1.341000	0.45600	0.655000	0.94253	CGG	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.478	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1		0.00	46	0	C	NM_020872		74334638	-1			no_errors	ENST00000263665	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.986	A
CNTNAP2	26047	genome.wustl.edu	37	7	147600656	147600656	+	Splice_Site	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:147600656G>T	ENST00000361727.3	+	14	2614		c.e14-1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTTCTTGTAGATGGAAGCCC	0.493										HNSCC(39;0.1)																																							0													67.0	63.0	65.0					7																	147600656		2203	4300	6503	SO:0001630	splice_region_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2099-1G>T	7.37:g.147600656G>T			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Splice_Site	SNP	-	e14-1	ENST00000361727.3	37	c.2099-1	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367559	0.61513	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4119	0.90554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP2	147231589	1.000000	0.71417	0.997000	0.53966	0.454000	0.32378	9.756000	0.98918	2.700000	0.92200	0.563000	0.77884	.	CNTNAP2	-	-	ENSG00000174469		0.493	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1		0.00	35	0	G		Intron	147600656	+1			no_errors	ENST00000361727	ensembl	human	known	74_37	splice_site	5.41	35	2	SNP	1.000	T
COG7	91949	genome.wustl.edu	37	16	23400367	23400367	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:23400367C>T	ENST00000307149.5	-	17	2372	c.2187G>A	c.(2185-2187)ccG>ccA	p.P729P	COG7_ENST00000569635.1_5'Flank	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	729					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.P729P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGGTGCGGGACGGCTGCAGGC	0.622																																																	1	Substitution - coding silent(1)	endometrium(1)											73.0	59.0	64.0					16																	23400367		2197	4300	6497	SO:0001819	synonymous_variant	0			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2187G>A	16.37:g.23400367C>T			Q6UWU7	Silent	SNP	pfam_COG7	p.P729	ENST00000307149.5	37	c.2187	CCDS10610.1	16																																																																																			COG7	-	pfam_COG7	ENSG00000168434		0.622	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG7	HGNC	protein_coding	OTTHUMT00000211625.1	-	0.00	53	0	C			23400367	-1	tier1	-	no_errors	ENST00000307149	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.027	T
CNTNAP4	85445	genome.wustl.edu	37	16	76587789	76587789	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:76587789T>A	ENST00000563764.1	+	2	142	c.142T>A	c.(142-144)Tct>Act	p.S48T	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S1167T|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S1243T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1191T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S1239T																							CAAAAGTGACTCTGCAGTAAT	0.373																																																	0													90.0	84.0	86.0					16																	76587789		1856	4106	5962	SO:0001583	missense	0																														ENST00000563764.1:c.142T>A	16.37:g.76587789T>A	ENSP00000455258:p.Ser48Thr			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S1239T	ENST00000563764.1	37	c.3715		16	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782708	0.90282	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.43	5.43	0.79202	.	0.000000	0.41097	D	0.000946	T	0.75213	0.3819	.	.	.	0.51233	D	0.999915	D;D;D	0.71674	0.998;0.985;0.985	D;P;P	0.64687	0.928;0.871;0.785	T	0.74057	-0.3787	9	0.34782	T	0.22	.	15.65	0.77084	0.0:0.0:0.0:1.0	.	1167;1243;1240	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	T	1239;1191;1167;1243	ENSP00000306893:S1239T;ENSP00000439733:S1191T;ENSP00000418741:S1167T;ENSP00000417628:S1243T	ENSP00000306893:S1239T	S	+	1	0	CNTNAP4	75145290	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.149000	0.77396	2.281000	0.76405	0.528000	0.53228	TCT	CNTNAP4	-	NULL	ENSG00000152910		0.373	RP11-58C22.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000421971.1	-	0.00	59	0	T			76587789	+1	tier1	-	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	21.43	33	9	SNP	1.000	A
COL16A1	1307	genome.wustl.edu	37	1	32162599	32162599	+	Missense_Mutation	SNP	G	G	T	rs375383196		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:32162599G>T	ENST00000373672.3	-	8	1345	c.829C>A	c.(829-831)Cgc>Agc	p.R277S	COL16A1_ENST00000271069.6_Missense_Mutation_p.R277S|COL16A1_ENST00000373668.3_Missense_Mutation_p.R277S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	277	Nonhelical region 10 (NC10).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGAAGCAGCGGGTGTAGACC	0.607																																					Colon(143;498 1786 21362 25193 36625)												0													105.0	118.0	114.0					1																	32162599		2043	4186	6229	SO:0001583	missense	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.829C>A	1.37:g.32162599G>T	ENSP00000362776:p.Arg277Ser		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R277S	ENST00000373672.3	37	c.829	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620826	0.66787	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	D;D;D;D	0.92446	-2.84;-2.91;-2.91;-3.04	4.73	4.73	0.59995	.	0.152990	0.46442	D	0.000290	D	0.93969	0.8069	L	0.40543	1.245	0.41047	D	0.985271	D;D;D	0.89917	1.0;0.993;0.996	D;D;D	0.79108	0.978;0.982;0.992	D	0.94808	0.7976	10	0.66056	D	0.02	.	16.8878	0.86080	0.0:0.0:1.0:0.0	.	277;277;277	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	S	277;277;277;5	ENSP00000362776:R277S;ENSP00000271069:R277S;ENSP00000362772:R277S;ENSP00000362771:R5S	ENSP00000271069:R277S	R	-	1	0	COL16A1	31935186	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.007000	0.57093	2.342000	0.79632	0.561000	0.74099	CGC	COL16A1	-	NULL	ENSG00000084636		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	-	0.00	43	0	G	NM_001856		32162599	-1	tier1	-	no_errors	ENST00000271069	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.998	T
COL4A2	1284	genome.wustl.edu	37	13	111109568	111109568	+	Intron	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:111109568G>A	ENST00000360467.5	+	21	1645				COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCAGGCGTCCGTGGGGCTGAT	0.736																																																	0																																										SO:0001627	intron_variant	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1340-122G>A	13.37:g.111109568G>A			Q14052|Q548C3|Q5VZA9|Q66K23	RNA	SNP	-	NULL	ENST00000360467.5	37	NULL	CCDS41907.1	13																																																																																			COL4A2-AS2	-	-	ENSG00000224821		0.736	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2-AS2	HGNC	protein_coding	OTTHUMT00000045761.2	-	0.00	36	0	G	NM_001846		111109568	-1	tier1	-	no_errors	ENST00000458403	ensembl	human	known	74_37	rna	22.73	85	25	SNP	0.000	A
COL5A1	1289	genome.wustl.edu	37	9	137734078	137734078	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:137734078A>G	ENST00000371817.3	+	66	5860	c.5446A>G	c.(5446-5448)Atg>Gtg	p.M1816V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1816	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGTGGACATCATGTTCAATGA	0.577																																																	0													131.0	124.0	127.0					9																	137734078		2203	4300	6503	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5446A>G	9.37:g.137734078A>G	ENSP00000360882:p.Met1816Val		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.M1816V	ENST00000371817.3	37	c.5446	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094697	0.36952	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.72505	-0.66	4.72	4.72	0.59763	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	U	0.000000	T	0.65080	0.2657	M	0.65320	2	0.44603	D	0.997579	P	0.35011	0.48	B	0.29353	0.101	T	0.65302	-0.6201	10	0.32370	T	0.25	.	14.1846	0.65598	1.0:0.0:0.0:0.0	.	1816	P20908	CO5A1_HUMAN	V	1816;353	ENSP00000360882:M1816V	ENSP00000347458:M353V	M	+	1	0	COL5A1	136873899	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.853000	0.69496	1.765000	0.52091	0.460000	0.39030	ATG	COL5A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000130635		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0.00	84	0	A	NM_000093		137734078	+1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	10.77	58	7	SNP	1.000	G
COL5A2	1290	genome.wustl.edu	37	2	189949926	189949926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:189949926G>T	ENST00000374866.3	-	11	1032	c.758C>A	c.(757-759)tCa>tAa	p.S253*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	253					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGTCCACGTGAACCAATCGG	0.388																																																	0													46.0	42.0	43.0					2																	189949926		2203	4300	6503	SO:0001587	stop_gained	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.758C>A	2.37:g.189949926G>T	ENSP00000364000:p.Ser253*		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.S253*	ENST00000374866.3	37	c.758	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.949507	0.97956	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.99	5.11	0.69529	.	1.008970	0.07970	N	0.983805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3729	0.38266	0.1607:0.0:0.8393:0.0	.	.	.	.	X	253;70	.	.	S	-	2	0	COL5A2	189658171	0.171000	0.23029	0.104000	0.21259	0.911000	0.54048	2.624000	0.46444	1.543000	0.49345	0.655000	0.94253	TCA	COL5A2	-	pfam_Collagen	ENSG00000204262		0.388	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	-	0.00	137	0	G	NM_000393		189949926	-1	tier1	-	no_errors	ENST00000374866	ensembl	human	known	74_37	nonsense	7.35	63	5	SNP	0.372	T
CPA6	57094	genome.wustl.edu	37	8	68658271	68658271	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:68658271G>T	ENST00000297770.4	-	1	309	c.94C>A	c.(94-96)Ctt>Att	p.L32I	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.L32I	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	32						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTGTTATAAAGGTGGCTGTGC	0.532																																																	0													47.0	45.0	46.0					8																	68658271		2203	4300	6503	SO:0001583	missense	0			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.94C>A	8.37:g.68658271G>T	ENSP00000297770:p.Leu32Ile		Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.L32I	ENST00000297770.4	37	c.94	CCDS6200.1	8	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630987	0.28978	.	.	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.50001	0.76;0.76	5.5	3.67	0.42095	Proteinase inhibitor, propeptide (1);	0.557131	0.15995	N	0.234638	T	0.22589	0.0545	N	0.08118	0	0.80722	D	1	B;B	0.30937	0.301;0.018	B;B	0.27715	0.082;0.017	T	0.03863	-1.0997	10	0.18710	T	0.47	.	6.2157	0.20653	0.0962:0.0:0.719:0.1848	.	32;32	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	I	32	ENSP00000297770:L32I;ENSP00000431112:L32I	ENSP00000297770:L32I	L	-	1	0	CPA6	68820825	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.242000	0.32755	0.648000	0.30732	0.655000	0.94253	CTT	CPA6	-	superfamily_Prot_inh_propept	ENSG00000165078		0.532	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	HGNC	protein_coding	OTTHUMT00000379296.2	-	0.00	47	0	G	NM_020361		68658271	-1	tier1	-	no_errors	ENST00000297770	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	T
CPED1	79974	genome.wustl.edu	37	7	120740003	120740003	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:120740003C>T	ENST00000310396.5	+	7	1240	c.773C>T	c.(772-774)cCa>cTa	p.P258L	CPED1_ENST00000450913.2_Missense_Mutation_p.P258L|CPED1_ENST00000423795.1_Missense_Mutation_p.P38L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	258						endoplasmic reticulum (GO:0005783)											GTCCTTGCTCCACATGAAACA	0.383																																																	0													138.0	119.0	126.0					7																	120740003		2203	4300	6503	SO:0001583	missense	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.773C>T	7.37:g.120740003C>T	ENSP00000309772:p.Pro258Leu		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.P258L	ENST00000310396.5	37	c.773	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342257	0.24339	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.46063	2.21;0.88;1.86;1.95;1.52	5.58	2.81	0.32909	.	0.613030	0.16467	N	0.213152	T	0.39410	0.1077	M	0.65975	2.015	0.09310	N	1	P;B;B	0.50369	0.934;0.0;0.124	B;B;B	0.43754	0.43;0.002;0.02	T	0.38929	-0.9638	10	0.72032	D	0.01	.	4.2206	0.10556	0.3249:0.5071:0.0:0.168	.	38;258;258	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	L	258;258;258;38;38	ENSP00000309772:P258L;ENSP00000398082:P258L;ENSP00000406122:P258L;ENSP00000415573:P38L;ENSP00000391952:P38L	ENSP00000309772:P258L	P	+	2	0	C7orf58	120527239	0.000000	0.05858	0.294000	0.24946	0.050000	0.14768	0.045000	0.14013	0.735000	0.32537	-1.079000	0.02226	CCA	CPED1	-	NULL	ENSG00000106034		0.383	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	-	0.00	62	0	C	NM_024913		120740003	+1	tier1	-	no_errors	ENST00000310396	ensembl	human	known	74_37	missense	23.64	42	13	SNP	0.002	T
CSMD1	64478	genome.wustl.edu	37	8	3072198	3072198	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:3072198G>T	ENST00000520002.1	-	31	5246	c.4691C>A	c.(4690-4692)gCt>gAt	p.A1564D	CSMD1_ENST00000542608.1_Missense_Mutation_p.A1563D|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1564D|CSMD1_ENST00000602557.1_Missense_Mutation_p.A1564D|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1563D|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1563D|CSMD1_ENST00000602723.1_Missense_Mutation_p.A1564D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1564	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		GTCAAAACAAGCTTCCCGTGG	0.408																																																	0													64.0	60.0	61.0					8																	3072198		1819	3917	5736	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.4691C>A	8.37:g.3072198G>T	ENSP00000430733:p.Ala1564Asp		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.A1564D	ENST00000520002.1	37	c.4691		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.815966|4.815966	0.90790|0.90790	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.27104|.	1.69;1.81;1.84;1.69;2.17|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Complement control module (2);Sushi/SCR/CCP (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.58609|0.58609	0.2134|0.2134	L|L	0.28776|0.28776	0.89|0.89	0.80722|0.80722	D|D	1|1	D;P;D|.	0.67145|.	0.996;0.899;0.989|.	D;P;D|.	0.73380|.	0.98;0.573;0.948|.	T|T	0.52953|0.52953	-0.8506|-0.8506	10|5	0.45353|.	T|.	0.12|.	.|.	19.1646|19.1646	0.93551|0.93551	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1564;1564;1564|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	D|R	1564;1564;1426;1563;1563;1563|1043	ENSP00000383047:A1564D;ENSP00000430733:A1564D;ENSP00000441462:A1563D;ENSP00000446243:A1563D;ENSP00000441675:A1563D|.	ENSP00000320445:A1426D|.	A|S	-|-	2|3	0|2	CSMD1|CSMD1	3059605|3059605	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.959000|0.959000	0.62525|0.62525	9.576000|9.576000	0.98192|0.98192	2.592000|2.592000	0.87571|0.87571	0.591000|0.591000	0.81541|0.81541	GCT|AGC	CSMD1	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	41	0	G	NM_033225		3072198	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
CSMD1	64478	genome.wustl.edu	37	8	3087592	3087592	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:3087592A>C	ENST00000520002.1	-	28	4873	c.4318T>G	c.(4318-4320)Ttt>Gtt	p.F1440V	CSMD1_ENST00000542608.1_Missense_Mutation_p.F1439V|CSMD1_ENST00000400186.3_Missense_Mutation_p.F1440V|CSMD1_ENST00000602557.1_Missense_Mutation_p.F1440V|CSMD1_ENST00000539096.1_Missense_Mutation_p.F1439V|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.F1439V|CSMD1_ENST00000602723.1_Missense_Mutation_p.F1440V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1440	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		GGTTGCCAAAAGAACCGGTTA	0.473																																																	0													105.0	101.0	102.0					8																	3087592		1926	4137	6063	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.4318T>G	8.37:g.3087592A>C	ENSP00000430733:p.Phe1440Val		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.F1440V	ENST00000520002.1	37	c.4318		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.935518|3.935518	0.73442|0.73442	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06;-0.06|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Complement control module (2);Sushi/SCR/CCP (3);|.	0.076199|.	0.53938|.	D|.	0.000044|.	T|T	0.51278|0.51278	0.1665|0.1665	N|N	0.17248|0.17248	0.465|0.465	0.53688|0.53688	D|D	0.999973|0.999973	D;P;B|.	0.53619|.	0.961;0.76;0.338|.	P;P;B|.	0.60682|.	0.878;0.61;0.281|.	T|T	0.48293|0.48293	-0.9048|-0.9048	10|5	0.48119|.	T|.	0.1|.	.|.	16.8061|16.8061	0.85666|0.85666	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1440;1440;1440|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	V|R	1440;1440;1302;1439;1439;1439|919	ENSP00000383047:F1440V;ENSP00000430733:F1440V;ENSP00000441462:F1439V;ENSP00000446243:F1439V;ENSP00000441675:F1439V|.	ENSP00000320445:F1302V|.	F|L	-|-	1|2	0|0	CSMD1|CSMD1	3074999|3074999	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.803000|0.803000	0.45373|0.45373	9.115000|9.115000	0.94336|0.94336	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	TTT|CTT	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	61	0	A	NM_033225		3087592	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	34.48	38	20	SNP	1.000	C
CTBP2	1488	genome.wustl.edu	37	10	126678147	126678147	+	Silent	SNP	C	C	T	rs76963654		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:126678147C>T	ENST00000337195.5	-	11	1677	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	CTBP2_ENST00000334808.6_Silent_p.A494A|CTBP2_ENST00000411419.2_Silent_p.A426A|CTBP2_ENST00000309035.6_Silent_p.A966A|CTBP2_ENST00000531469.1_Silent_p.A426A|CTBP2_ENST00000494626.2_Silent_p.A426A	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	426					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGGGAGAGGGCGCTTGGGAAG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18594	0.001		0.0	False		,,,				2504	0.0																0													73.0	74.0	74.0					10																	126678147		2203	4300	6503	SO:0001819	synonymous_variant	0			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.1278G>A	10.37:g.126678147C>T			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.A966	ENST00000337195.5	37	c.2898	CCDS7643.1	10																																																																																			CTBP2	-	NULL	ENSG00000175029		0.567	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	-	0.00	41	0	C	NM_001083914		126678147	-1	tier1	rs76963654	no_errors	ENST00000309035	ensembl	human	known	74_37	silent	6.49	72	5	SNP	0.989	T
CTDSPL	10217	genome.wustl.edu	37	3	37988615	37988615	+	Silent	SNP	C	C	T	rs1803396		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:37988615C>T	ENST00000273179.5	+	2	173	c.147C>T	c.(145-147)tgC>tgT	p.C49C	CTDSPL_ENST00000443503.2_Silent_p.C49C	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	49						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TCTTCTGCTGCTTCCGTGATT	0.562																																																	0													81.0	76.0	78.0					3																	37988615		2203	4300	6503	SO:0001819	synonymous_variant	0			D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	16890	protein-coding gene	gene with protein product	"""small CTD phosphatase 3"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"""	608592	"""chromosome 3 open reading frame 8"""	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.147C>T	3.37:g.37988615C>T			Q3ZTU0|Q70KI4|Q7Z5Q2	Silent	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.C49	ENST00000273179.5	37	c.147	CCDS33734.1	3																																																																																			CTDSPL	-	NULL	ENSG00000144677		0.562	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL	HGNC	protein_coding	OTTHUMT00000342392.1	-	0.00	32	0	C	NM_005808		37988615	+1	tier1	rs1803396	no_errors	ENST00000273179	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T
CUL9	23113	genome.wustl.edu	37	6	43152426	43152426	+	Silent	SNP	G	G	A	rs374118842		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:43152426G>A	ENST00000252050.4	+	2	462	c.378G>A	c.(376-378)gcG>gcA	p.A126A	CUL9_ENST00000354495.3_Silent_p.A126A|CUL9_ENST00000372647.2_Silent_p.A126A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	126					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TACGCAGGGCGGCCAGGCAGC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19219	0.0		0.0	False		,,,				2504	0.0																0								G		0,4406		0,0,2203	77.0	80.0	79.0		378	-1.5	1.0	6		79	1,8599		0,1,4299	no	coding-synonymous	CUL9	NM_015089.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		126/2518	43152426	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.378G>A	6.37:g.43152426G>A			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.A126	ENST00000252050.4	37	c.378	CCDS4890.1	6																																																																																			CUL9	-	superfamily_ARM-type_fold	ENSG00000112659		0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2		0.00	59	0	G	NM_015089		43152426	+1			no_errors	ENST00000252050	ensembl	human	known	74_37	silent	8.57	32	3	SNP	1.000	A
CXADRP3	440224	genome.wustl.edu	37	18	14478052	14478052	+	lincRNA	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr18:14478052T>G	ENST00000581457.1	-	0	1856					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		CAGCTCCTGATTAACTTATTT	0.289																																																	0																																												0					18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478052T>G				RNA	SNP	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			CXADRP3	-	-	ENSG00000265766		0.289	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	HGNC	lincRNA	OTTHUMT00000443008.1		0.00	13	0	T	NR_024076		14478052	-1			no_errors	ENST00000581457	ensembl	human	known	74_37	rna	20.83	19	5	SNP	0.820	G
CYLC2	1539	genome.wustl.edu	37	9	105765462	105765462	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:105765462T>C	ENST00000374798.3	+	3	167	c.97T>C	c.(97-99)Ttt>Ctt	p.F33L	CYLC2_ENST00000487798.1_Missense_Mutation_p.F33L	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	33	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TCAGCAACACTTTGCCCTGTT	0.388																																																	0													125.0	115.0	118.0					9																	105765462		2203	4300	6503	SO:0001583	missense	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.97T>C	9.37:g.105765462T>C	ENSP00000420256:p.Phe33Leu		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.F33L	ENST00000374798.3	37	c.97	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399498	0.83120	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.37915	1.17;1.17	4.81	4.81	0.61882	.	0.000000	0.46145	D	0.000315	T	0.52741	0.1753	L	0.58969	1.84	0.33251	D	0.558554	D	0.76494	0.999	D	0.71184	0.972	T	0.65994	-0.6033	10	0.66056	D	0.02	-16.2257	10.9303	0.47213	0.0:0.0:0.0:1.0	.	33	Q14093	CYLC2_HUMAN	L	33	ENSP00000420256:F33L;ENSP00000417674:F33L	ENSP00000420256:F33L	F	+	1	0	CYLC2	104805283	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.303000	0.51858	2.155000	0.67459	0.477000	0.44152	TTT	CYLC2	-	NULL	ENSG00000155833		0.388	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	-	0.00	112	0	T	NM_001340		105765462	+1	tier1	-	no_errors	ENST00000374798	ensembl	human	known	74_37	missense	15.19	67	12	SNP	1.000	C
CYP21A2	1589	genome.wustl.edu	37	6	32007600	32007600	+	Silent	SNP	G	G	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:32007600G>C	ENST00000418967.2	+	6	884	c.726G>C	c.(724-726)ctG>ctC	p.L242L	CYP21A2_ENST00000435122.2_Silent_p.L212L	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	241				R -> G (in Ref. 7; BAB70774). {ECO:0000305}.	glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	AGATGCAGCTGAGGCAGCACA	0.592																																					Melanoma(174;1669 1998 3915 34700 46447)												0													108.0	115.0	113.0					6																	32007600		2203	4300	6503	SO:0001819	synonymous_variant	0			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.726G>C	6.37:g.32007600G>C			A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L242	ENST00000418967.2	37	c.726	CCDS4735.1	6																																																																																			CYP21A2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000231852		0.592	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	-	0.00	63	0	G	NM_000500		32007600	+1	tier1	-	no_errors	ENST00000418967	ensembl	human	known	74_37	silent	41.76	53	38	SNP	0.943	C
CYP2W1	54905	genome.wustl.edu	37	7	1024625	1024625	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:1024625G>A	ENST00000308919.7	+	3	390	c.377G>A	c.(376-378)cGc>cAc	p.R126H	CYP2W1_ENST00000340150.6_Missense_Mutation_p.R70H	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	126					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AGGGCTGCCCGCCAGTTCACG	0.662																																																	0													32.0	40.0	37.0					7																	1024625		2202	4299	6501	SO:0001583	missense	0			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.377G>A	7.37:g.1024625G>A	ENSP00000310149:p.Arg126His			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R126H	ENST00000308919.7	37	c.377	CCDS5319.2	7	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243950	0.58995	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	D;D	0.92647	-3.08;-3.08	4.95	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.97148	0.9068	H	0.96916	3.905	0.44852	D	0.997862	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97289	0.9923	10	0.87932	D	0	.	11.5049	0.50459	0.0846:0.0:0.9154:0.0	.	70;126	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	H	126;70	ENSP00000310149:R126H;ENSP00000344178:R70H	ENSP00000310149:R126H	R	+	2	0	CYP2W1	991151	0.979000	0.34478	0.721000	0.30653	0.063000	0.16089	4.663000	0.61532	1.082000	0.41137	0.491000	0.48974	CGC	CYP2W1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000073067		0.662	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	HGNC	protein_coding	OTTHUMT00000157249.1	-	0.00	59	0	G	NM_017781		1024625	+1	tier1	-	no_errors	ENST00000308919	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.987	A
DBX2	440097	genome.wustl.edu	37	12	45444438	45444438	+	Silent	SNP	T	T	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:45444438T>C	ENST00000332700.6	-	1	444	c.273A>G	c.(271-273)caA>caG	p.Q91Q	RP11-478B9.1_ENST00000548424.1_RNA	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	91					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CGGGGCTAACTTGTTCGGCTG	0.741																																																	0													3.0	4.0	4.0					12																	45444438		1906	3859	5765	SO:0001819	synonymous_variant	0				CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.273A>G	12.37:g.45444438T>C				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.Q91	ENST00000332700.6	37	c.273	CCDS31781.1	12																																																																																			DBX2	-	NULL	ENSG00000185610		0.741	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBX2	HGNC	protein_coding	OTTHUMT00000404810.1	-	0.00	20	0	T	NM_001004329		45444438	-1	tier1	-	no_errors	ENST00000332700	ensembl	human	known	74_37	silent	29.63	19	8	SNP	0.982	C
DCN	1634	genome.wustl.edu	37	12	91539903	91539903	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:91539903C>G	ENST00000052754.5	-	8	1513	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	DCN_ENST00000303320.3_Missense_Mutation_p.E151Q|DCN_ENST00000425043.1_Missense_Mutation_p.E191Q|DCN_ENST00000552962.1_Missense_Mutation_p.E338Q|DCN_ENST00000441303.2_Missense_Mutation_p.E151Q|DCN_ENST00000547568.2_Missense_Mutation_p.E191Q|DCN_ENST00000228329.5_Missense_Mutation_p.E229Q|DCN_ENST00000393155.1_Missense_Mutation_p.E338Q|DCN_ENST00000420120.2_Missense_Mutation_p.E229Q	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	338					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GGCTGTATCTCCCAGTACTGG	0.468																																																	0													135.0	129.0	131.0					12																	91539903		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.1012G>C	12.37:g.91539903C>G	ENSP00000052754:p.Glu338Gln		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.E338Q	ENST00000052754.5	37	c.1012	CCDS9039.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.069920|4.069920	0.76301|0.76301	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568|ENST00000548218	T;T;T;T;T;T;T;T;T|.	0.78003|.	3.62;3.62;-1.14;3.62;0.27;3.62;3.62;-1.14;0.27|.	5.86|5.86	4.96|4.96	0.65561|0.65561	.|.	0.091890|.	0.64402|.	N|.	0.000001|.	T|T	0.71048|0.71048	0.3294|0.3294	L|L	0.58302|0.58302	1.8|1.8	0.80722|0.80722	D|D	1|1	P;B;P;D|.	0.54601|.	0.763;0.241;0.785;0.967|.	B;B;B;B|.	0.41691|.	0.082;0.104;0.29;0.364|.	T|T	0.69684|0.69684	-0.5079|-0.5079	10|5	0.59425|.	D|.	0.04|.	.|.	17.2296|17.2296	0.86981|0.86981	0.0:0.8744:0.1256:0.0|0.0:0.8744:0.1256:0.0	.|.	338;151;191;229|.	P07585;P07585-4;P07585-3;P07585-2|.	PGS2_HUMAN;.;.;.|.	Q|A	338;229;151;338;191;338;229;151;191|28	ENSP00000052754:E338Q;ENSP00000228329:E229Q;ENSP00000302031:E151Q;ENSP00000376862:E338Q;ENSP00000401021:E191Q;ENSP00000447654:E338Q;ENSP00000413723:E229Q;ENSP00000399815:E151Q;ENSP00000447674:E191Q|.	ENSP00000052754:E338Q|.	E|G	-|-	1|2	0|0	DCN|DCN	90064034|90064034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.305000|3.305000	0.51873|0.51873	1.460000|1.460000	0.47911|0.47911	0.655000|0.655000	0.94253|0.94253	GAG|GGA	DCN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.468	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3	-	0.00	72	0	C	NM_133507		91539903	-1	tier1	-	no_errors	ENST00000052754	ensembl	human	known	74_37	missense	16.67	60	12	SNP	1.000	G
DEDD2	162989	genome.wustl.edu	37	19	42721106	42721106	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:42721106C>T	ENST00000595337.1	-	2	141	c.54G>A	c.(52-54)ctG>ctA	p.L18L	DEDD2_ENST00000598727.1_Silent_p.L18L|DEDD2_ENST00000593804.1_Intron|DEDD2_ENST00000336034.4_Silent_p.L18L|DEDD2_ENST00000596251.1_Silent_p.L18L	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	18					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGTAGTAGTCCAGGCACTCAT	0.652																																																	0													23.0	17.0	19.0					19																	42721106		2190	4297	6487	SO:0001819	synonymous_variant	0			AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.54G>A	19.37:g.42721106C>T			Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Silent	SNP	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	p.L18	ENST00000595337.1	37	c.54	CCDS12597.1	19																																																																																			DEDD2	-	NULL	ENSG00000160570		0.652	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEDD2	HGNC	protein_coding	OTTHUMT00000463508.1	-	0.00	50	0	C	NM_133328		42721106	-1	tier1	-	no_errors	ENST00000595337	ensembl	human	known	74_37	silent	32.35	23	11	SNP	1.000	T
DLEC1	9940	genome.wustl.edu	37	3	38134345	38134345	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:38134345G>T	ENST00000308059.6	+	11	1751	c.1730G>T	c.(1729-1731)tGc>tTc	p.C577F	DLEC1_ENST00000452631.2_Missense_Mutation_p.C577F|DLEC1_ENST00000346219.3_Missense_Mutation_p.C577F					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGCGACAACTGCCAGATAAAG	0.567																																																	0													97.0	97.0	97.0					3																	38134345		2038	4192	6230	SO:0001583	missense	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1730G>T	3.37:g.38134345G>T	ENSP00000308597:p.Cys577Phe			Missense_Mutation	SNP	superfamily_PapD-like	p.C577F	ENST00000308059.6	37	c.1730	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255107	0.80135	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.08193	3.13;3.12;3.35	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.99	T	0.03403	-1.1040	10	0.22706	T	0.39	-28.8484	16.9659	0.86285	0.0:0.0:1.0:0.0	.	577;577;577	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	F	577	ENSP00000308597:C577F;ENSP00000315914:C577F;ENSP00000410427:C577F	ENSP00000308597:C577F	C	+	2	0	DLEC1	38109349	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.234000	0.72326	2.589000	0.87451	0.632000	0.83419	TGC	DLEC1	-	NULL	ENSG00000008226		0.567	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0.00	50	0	G	NM_007337		38134345	+1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
DNER	92737	genome.wustl.edu	37	2	230231593	230231593	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:230231593C>T	ENST00000341772.4	-	12	2232	c.2098G>A	c.(2098-2100)Gcc>Acc	p.A700T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	700					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GCCAACCTGGCATGCCGGATG	0.532																																																	0													73.0	71.0	72.0					2																	230231593		2203	4300	6503	SO:0001583	missense	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.2098G>A	2.37:g.230231593C>T	ENSP00000345229:p.Ala700Thr		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A700T	ENST00000341772.4	37	c.2098	CCDS33390.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.310203	0.95629	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.85955	-2.05	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89313	0.3634	10	0.72032	D	0.01	.	20.3382	0.98754	0.0:1.0:0.0:0.0	.	700	Q8NFT8	DNER_HUMAN	T	700;418	ENSP00000345229:A700T	ENSP00000345229:A700T	A	-	1	0	DNER	229939837	1.000000	0.71417	0.997000	0.53966	0.743000	0.42351	7.397000	0.79903	2.817000	0.96982	0.551000	0.68910	GCC	DNER	-	NULL	ENSG00000187957		0.532	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1	-	0.00	29	0	C	NM_139072		230231593	-1	tier1	-	no_errors	ENST00000341772	ensembl	human	known	74_37	missense	50.00	6	6	SNP	1.000	T
DNHD1	144132	genome.wustl.edu	37	11	6519744	6519744	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:6519744G>T	ENST00000527990.2	+	1	299	c.299G>T	c.(298-300)gGc>gTc	p.G100V	DNHD1_ENST00000354685.3_Missense_Mutation_p.G100V|DNHD1_ENST00000254579.6_Missense_Mutation_p.G100V|DNHD1_ENST00000477562.1_3'UTR			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	100					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGCTAGTTGGCCACCTTGAT	0.567																																																	0													142.0	120.0	128.0					11																	6519744		2201	4296	6497	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.299G>T	11.37:g.6519744G>T	ENSP00000436180:p.Gly100Val		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.G100V	ENST00000527990.2	37	c.299	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035046	0.54896	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.34472	1.36;2.26;1.36	5.33	1.34	0.21922	.	0.519424	0.18996	N	0.125491	T	0.43700	0.1259	L	0.32530	0.975	0.23645	N	0.99722	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.19679	-1.0298	10	0.66056	D	0.02	.	8.3536	0.32316	0.3223:0.0:0.6777:0.0	.	100;100	Q96M86;Q96M86-4	DNHD1_HUMAN;.	V	100	ENSP00000254579:G100V;ENSP00000346716:G100V;ENSP00000436180:G100V	ENSP00000254579:G100V	G	+	2	0	DNHD1	6476320	0.005000	0.15991	0.039000	0.18376	0.964000	0.63967	1.323000	0.33701	0.246000	0.21394	0.563000	0.77884	GGC	DNHD1	-	NULL	ENSG00000179532		0.567	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0.00	31	0	G	NM_144666		6519744	+1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	12.12	28	4	SNP	0.147	T
DRP2	1821	genome.wustl.edu	37	X	100509876	100509876	+	Missense_Mutation	SNP	G	G	A	rs201156733		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:100509876G>A	ENST00000395209.3	+	19	2670	c.2143G>A	c.(2143-2145)Gcc>Acc	p.A715T	DRP2_ENST00000541709.1_Missense_Mutation_p.A637T|DRP2_ENST00000402866.1_Missense_Mutation_p.A715T|DRP2_ENST00000538510.1_Missense_Mutation_p.A715T	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	715					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTGGCCACACGCCGACACACA	0.582																																																	0													124.0	100.0	108.0					X																	100509876		2203	4300	6503	SO:0001583	missense	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2143G>A	X.37:g.100509876G>A	ENSP00000378635:p.Ala715Thr		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.A715T	ENST00000395209.3	37	c.2143	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526424	0.27299	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.82	3.88	0.44766	.	0.173376	0.49916	D	0.000128	D	0.86297	0.5899	M	0.65975	2.015	0.50813	D	0.999893	B	0.31837	0.342	B	0.26202	0.067	D	0.85983	0.1484	10	0.40728	T	0.16	-7.7831	14.2835	0.66228	0.0:0.0:0.8404:0.1596	.	715	Q13474	DRP2_HUMAN	T	715;715;637;715	ENSP00000385038:A715T;ENSP00000378635:A715T;ENSP00000444752:A637T;ENSP00000441051:A715T	ENSP00000378635:A715T	A	+	1	0	DRP2	100396532	1.000000	0.71417	0.888000	0.34837	0.416000	0.31233	7.579000	0.82511	2.215000	0.71742	0.600000	0.82982	GCC	DRP2	-	pirsf_Dystrophin-related_2	ENSG00000102385		0.582	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	-	0.00	90	0	G	NM_001939		100509876	+1	tier1	rs201156733	no_errors	ENST00000395209	ensembl	human	known	74_37	missense	14.00	86	14	SNP	0.876	A
DSCR4	10281	genome.wustl.edu	37	21	39325210	39325210	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr21:39325210G>A	ENST00000398948.1	-	3	412	c.329C>T	c.(328-330)gCg>gTg	p.A110V				P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	0										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						TTGGGGCTGCGCACTGCACCT	0.552																																																	0																																										SO:0001583	missense	0			AB000099	CCDS33554.1	21q22.2	2012-04-19			ENSG00000184029	ENSG00000184029			3045	protein-coding gene	gene with protein product		604829				9455479	Standard	NM_005867		Approved	DCRB	uc002ywp.3	P56555	OTTHUMG00000086673	ENST00000398948.1:c.329C>T	21.37:g.39325210G>A	ENSP00000381921:p.Ala110Val		Q4VB31	Missense_Mutation	SNP	NULL	p.A110V	ENST00000398948.1	37	c.329		21	.	.	.	.	.	.	.	.	.	.	G	5.617	0.298639	0.10622	.	.	ENSG00000184029	ENST00000398948	.	.	.	2.56	-0.388	0.12459	.	.	.	.	.	T	0.35008	0.0917	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38243	-0.9670	5	0.87932	D	0	.	3.0252	0.06088	0.2915:0.2353:0.4732:0.0	.	.	.	.	V	110	.	ENSP00000381921:A110V	A	-	2	0	DSCR4	38247080	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.469000	0.02348	-0.105000	0.12132	-0.172000	0.13284	GCG	DSCR4	-	NULL	ENSG00000184029		0.552	DSCR4-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	DSCR4	HGNC	protein_coding	OTTHUMT00000194835.1	-	0.00	43	0	G	NM_005867		39325210	-1	tier1	-	no_errors	ENST00000398948	ensembl	human	putative	74_37	missense	15.38	44	8	SNP	0.000	A
DUOX1	53905	genome.wustl.edu	37	15	45444498	45444498	+	Missense_Mutation	SNP	G	G	A	rs370420245		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:45444498G>A	ENST00000321429.4	+	26	3615	c.3208G>A	c.(3208-3210)Gca>Aca	p.A1070T	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.A1070T|DUOX1_ENST00000561166.1_Missense_Mutation_p.A716T	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1070	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGCCTTTGCCGCACATCACAC	0.627																																																	0													110.0	82.0	91.0					15																	45444498		2197	4298	6495	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3208G>A	15.37:g.45444498G>A	ENSP00000317997:p.Ala1070Thr		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.A1070T	ENST00000321429.4	37	c.3208	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964810	0.53507	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.86097	-2.07;-2.07	3.92	3.92	0.45320	.	0.106321	0.64402	D	0.000004	D	0.84848	0.5563	L	0.50333	1.59	0.58432	D	0.999999	D;P	0.61080	0.989;0.718	P;B	0.55011	0.766;0.222	T	0.81881	-0.0729	10	0.27785	T	0.31	-7.9239	9.0997	0.36660	0.0:0.0:0.7813:0.2187	.	203;1070	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	T	1070	ENSP00000317997:A1070T;ENSP00000373689:A1070T	ENSP00000317997:A1070T	A	+	1	0	DUOX1	43231790	1.000000	0.71417	0.715000	0.30552	0.777000	0.43975	4.039000	0.57325	2.143000	0.66587	0.650000	0.86243	GCA	DUOX1	-	NULL	ENSG00000137857		0.627	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1		0.00	25	0	G	NM_017434		45444498	+1			no_errors	ENST00000321429	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.992	A
EDC4	23644	genome.wustl.edu	37	16	67911221	67911221	+	Missense_Mutation	SNP	G	G	A	rs375074441		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:67911221G>A	ENST00000358933.5	+	5	792	c.553G>A	c.(553-555)Gcg>Acg	p.A185T	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	185					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)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCTGGCTTTCGCGCACCTCAA	0.572																																																	0								G	THR/ALA	0,4396		0,0,2198	106.0	94.0	98.0		553	5.7	1.0	16		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	EDC4	NM_014329.3	58	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	185/1402	67911221	1,12995	2198	4300	6498	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.553G>A	16.37:g.67911221G>A	ENSP00000351811:p.Ala185Thr		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A185T	ENST00000358933.5	37	c.553	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125686	0.77436	0.0	1.16E-4	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.06371	3.31	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.972	T	0.00256	-1.1873	10	0.49607	T	0.09	-10.7178	19.4549	0.94884	0.0:0.0:1.0:0.0	.	117;185	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	T	185;117	ENSP00000351811:A185T	ENSP00000351811:A185T	A	+	1	0	EDC4	66468722	1.000000	0.71417	0.994000	0.49952	0.237000	0.25408	9.869000	0.99810	2.710000	0.92621	0.655000	0.94253	GCG	EDC4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000038358		0.572	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2		0.00	46	0	G	NM_014329		67911221	+1			no_errors	ENST00000358933	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A
ELN	2006	genome.wustl.edu	37	7	73452037	73452037	+	Splice_Site	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:73452037C>A	ENST00000252034.7	+	4	563	c.164C>A	c.(163-165)gCg>gAg	p.A55E	ELN_ENST00000380576.5_Splice_Site_p.A55E|ELN_ENST00000320492.7_Splice_Site_p.A55E|ELN_ENST00000320399.6_Splice_Site_p.A55E|ELN_ENST00000380553.4_Splice_Site_p.A55E|ELN_ENST00000358929.4_Splice_Site_p.A55E|ELN_ENST00000445912.1_Splice_Site_p.A55E|ELN_ENST00000429192.1_Splice_Site_p.A55E|ELN_ENST00000414324.1_Splice_Site_p.A45E|ELN_ENST00000458204.1_Splice_Site_p.A45E|ELN_ENST00000357036.5_Splice_Site_p.A55E|ELN_ENST00000380584.4_Splice_Site_p.A55E|ELN_ENST00000380575.4_Splice_Site_p.A45E|ELN_ENST00000380562.4_Splice_Site_p.A55E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	55					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCCTCTGCAGCGCTGGGGCCT	0.582			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													88.0	64.0	72.0					7																	73452037		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.164-1C>A	7.37:g.73452037C>A			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.A55E	ENST00000252034.7	37	c.164	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	C	8.733	0.917235	0.17982	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000438880;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000442310;ENST00000380553;ENST00000380576;ENST00000428787;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78924	1.27;1.28;1.25;-1.0;1.35;0.77;-1.22;-1.0;1.28;-1.0;1.28;-1.0;1.27;1.27;-1.22;1.28;-1.22;1.26	5.13	-2.5	0.06384	.	.	.	.	.	T	0.71879	0.3392	.	.	.	0.09310	N	0.999996	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.45768	0.866;0.866;0.777;0.866;0.866;0.777;0.866;0.866;0.866;0.866;0.866;0.866;0.866;0.866	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.48524	0.483;0.483;0.483;0.483;0.483;0.483;0.483;0.483;0.483;0.483;0.58;0.58;0.58;0.483	T	0.62826	-0.6772	7	.	.	.	.	6.3515	0.21379	0.0:0.2625:0.4728:0.2647	.	55;55;55;45;45;55;45;55;55;55;55;45;55;55	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	E	55;55;55;45;55;55;55;45;55;45;55;45;55;55;55;55;55;55;55;55;55	ENSP00000389857:A55E;ENSP00000252034:A55E;ENSP00000351807:A55E;ENSP00000394549:A45E;ENSP00000315607:A55E;ENSP00000406949:A55E;ENSP00000389206:A55E;ENSP00000392575:A45E;ENSP00000369936:A55E;ENSP00000369949:A45E;ENSP00000369958:A55E;ENSP00000403162:A45E;ENSP00000349540:A55E;ENSP00000391129:A55E;ENSP00000369926:A55E;ENSP00000369950:A55E;ENSP00000399499:A55E;ENSP00000313565:A55E	.	A	+	2	0	ELN	73089973	0.376000	0.25098	0.043000	0.18650	0.002000	0.02628	0.473000	0.22132	-0.217000	0.10033	-0.671000	0.03813	GCG	ELN	-	NULL	ENSG00000049540		0.582	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1		0.00	18	0	C	NM_000501	Missense_Mutation	73452037	+1			no_errors	ENST00000358929	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.045	A
EN1	2019	genome.wustl.edu	37	2	119600699	119600699	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:119600699G>A	ENST00000295206.6	-	2	1504	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	332					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GTCTGCCGCCGCTGCTCCGTG	0.607																																																	0													52.0	48.0	49.0					2																	119600699		2203	4300	6503	SO:0001583	missense	0			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.994C>T	2.37:g.119600699G>A	ENSP00000295206:p.Arg332Trp		Q4ZG44	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4	p.R332W	ENST00000295206.6	37	c.994	CCDS2123.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124586	0.77436	.	.	ENSG00000163064	ENST00000295206	D	0.95885	-3.84	4.89	4.89	0.63831	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98466	0.9489	H	0.97491	4.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	-20.8063	12.7308	0.57197	0.0:0.0:0.8354:0.1646	.	332	Q05925	HME1_HUMAN	W	332	ENSP00000295206:R332W	ENSP00000295206:R332W	R	-	1	2	EN1	119317169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.434000	0.44802	2.257000	0.74773	0.555000	0.69702	CGG	EN1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000163064		0.607	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EN1	HGNC	protein_coding	OTTHUMT00000254191.3		0.00	52	0	G			119600699	-1			no_errors	ENST00000295206	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	A
ENAH	55740	genome.wustl.edu	37	1	225705664	225705664	+	Intron	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:225705664G>T	ENST00000366844.3	-	6	1254				ENAH_ENST00000284563.6_Missense_Mutation_p.N296K|ENAH_ENST00000391874.2_5'Flank|ENAH_ENST00000366843.2_Intron	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)						actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GAAGTGGAGCGTTATACAGGG	0.493																																																	0																																										SO:0001627	intron_variant	0			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.803-656C>A	1.37:g.225705664G>T			D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.N296K	ENST00000366844.3	37	c.888	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585649	0.28268	.	.	ENSG00000154380	ENST00000284563	D	0.83914	-1.78	5.22	-5.87	0.02297	.	0.665589	0.15522	N	0.258010	T	0.78065	0.4225	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.68678	-0.5345	6	.	.	.	0.0021	14.9635	0.71174	0.4933:0.0:0.5067:0.0	.	.	.	.	K	296	ENSP00000284563:N296K	.	N	-	3	2	ENAH	223772287	0.000000	0.05858	0.013000	0.15412	0.985000	0.73830	-0.504000	0.06375	-1.149000	0.02843	-0.216000	0.12614	AAC	ENAH	-	NULL	ENSG00000154380		0.493	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	-	0.00	72	0	G	NM_018212		225705664	-1	tier1	-	no_errors	ENST00000284563	ensembl	human	novel	74_37	missense	6.02	78	5	SNP	0.014	T
RP11-146E13.4	0	genome.wustl.edu	37	14	19856897	19856897	+	lincRNA	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:19856897T>G	ENST00000548109.1	+	0	72																											TTAGCCCAACTTCTGTGCTAG	0.373																																																	0																																												0																															14.37:g.19856897T>G				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-	ENSG00000244306		0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	ENSG00000244306	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1		0.00	181	0	T			19856897	-1			no_errors	ENST00000551334	ensembl	human	known	74_37	rna	7.59	145	12	SNP	1.000	G
TMPRSS11BNL	401136	genome.wustl.edu	37	4	69083673	69083673	+	5'UTR	SNP	G	G	A	rs535460243	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:69083673G>A	ENST00000432593.3	-	0	125				RP11-646E20.6_ENST00000510782.1_RNA					TMPRSS11B N-terminal like, pseudogene											autonomic_ganglia(1)	1						TAAATATAAAGAAAAGTTCTG	0.343																																																	0													168.0	148.0	154.0					4																	69083673		692	1591	2283	SO:0001623	5_prime_UTR_variant	0					4q13.2	2014-05-09	2014-05-08		ENSG00000226894	ENSG00000250026			37262	pseudogene	pseudogene			"""TMPRSS11B N terminal-like"", ""TMPRSS11B N-terminal like"""				Standard	NR_104048		Approved	FLJ41562	uc003hdv.1		OTTHUMG00000160802	ENST00000432593.3:c.-42C>T	4.37:g.69083673G>A				RNA	SNP	-	NULL	ENST00000432593.3	37	NULL	CCDS47066.1	4																																																																																			RP11-646E20.6	-	-	ENSG00000250026		0.343	TMPRSS11BNL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250026	Clone_based_vega_gene	protein_coding		-	0.00	46	0	G	NM_001129907		69083673	-1	tier1	-	no_errors	ENST00000504453	ensembl	human	known	74_37	rna	32.69	35	17	SNP	0.499	A
RP11-643G16.4	0	genome.wustl.edu	37	14	68082826	68082827	+	RNA	INS	-	-	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:68082826_68082827insT	ENST00000559968.1	+	0	1181_1182				Y_RNA_ENST00000364659.1_RNA																							TTCGAGTGCAGTTTTTTTTCTT	0.351																																																	0																																												0																															14.37:g.68082834_68082834dupT				RNA	INS	-	NULL	ENST00000559968.1	37	NULL		14																																																																																			RP11-643G16.4	-	-	ENSG00000259648		0.351	RP11-643G16.4-002	KNOWN	basic	processed_transcript	ENSG00000259648	Clone_based_vega_gene	pseudogene	OTTHUMT00000417022.1		0.00	19	0	-			68082827	+1	tier1		no_errors	ENST00000559968	ensembl	human	known	74_37	rna	20.00	12	3	INS	0.981:0.976	T
HEXA	3073	genome.wustl.edu	37	15	72643437	72643437	+	Intron	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:72643437G>A	ENST00000268097.5	-	6	1176				RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Intron|HEXA_ENST00000566304.1_Intron|HEXA_ENST00000429918.2_Intron|HEXA_ENST00000567159.1_Intron	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TTCAGACATTGACCCATAAAC	0.478																																																	0													81.0	63.0	69.0					15																	72643437		2199	4297	6496	SO:0001627	intron_variant	0			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.672+36C>T	15.37:g.72643437G>A			B4DKE7|E7ENH7|Q53HS8|Q6AI32	RNA	SNP	-	NULL	ENST00000268097.5	37	NULL	CCDS10243.1	15																																																																																			RP11-106M3.3	-	-	ENSG00000261460		0.478	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261460	Clone_based_vega_gene	protein_coding	OTTHUMT00000257317.2	-	0.00	34	0	G	NM_000520		72643437	+1	tier1	-	no_errors	ENST00000570175	ensembl	human	known	74_37	rna	27.27	16	6	SNP	0.000	A
MAGEA5	4104	genome.wustl.edu	37	X	151283560	151283560	+	RNA	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:151283560G>A	ENST00000509345.2	-	0	776																											AGGCTTTGCCGAAGATCACAG	0.517																																																	0																																												0																															X.37:g.151283560G>A				RNA	SNP	-	NULL	ENST00000509345.2	37	NULL		X																																																																																			RP11-1007I13.4	-	-	ENSG00000266560		0.517	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000266560	Clone_based_vega_gene	processed_transcript	OTTHUMT00000445981.1	-	0.00	97	0	G			151283560	-1	tier1	-	no_errors	ENST00000509345	ensembl	human	known	74_37	rna	26.58	58	21	SNP	0.000	A
EP400	57634	genome.wustl.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517																9	Substitution - coding silent(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)																																								SO:0001652	inframe_insertion	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.2767in_frame_insQ	ENST00000333577.4	37	c.8289_8290		12																																																																																			EP400	-	NULL	ENSG00000183495		0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding			0.00	29	0	-	NM_015409		132547094	+1	tier1		no_errors	ENST00000333577	ensembl	human	known	74_37	in_frame_ins	13.79	25	4	INS	0.900:0.920	CAG
EPHA1	2041	genome.wustl.edu	37	7	143088619	143088619	+	Silent	SNP	C	C	T	rs151021159		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:143088619C>T	ENST00000275815.3	-	18	2948	c.2862G>A	c.(2860-2862)acG>acA	p.T954T	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	954	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|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 stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTCCCATCTGCGTCAGGTCCC	0.622																																																	0								C		0,4406		0,0,2203	70.0	50.0	57.0		2862	-10.5	0.0	7	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EPHA1	NM_005232.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		954/977	143088619	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2862G>A	7.37:g.143088619C>T			A1L3V3|B5A966|B5A967|Q15405	Silent	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_Kinase-like_dom,superfamily_Galactose-bd-like,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.T954	ENST00000275815.3	37	c.2862	CCDS5884.1	7																																																																																			EPHA1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000146904		0.622	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1		0.00	57	0	C			143088619	-1			no_errors	ENST00000275815	ensembl	human	known	74_37	silent	15.79	16	3	SNP	0.000	T
ERRFI1	54206	genome.wustl.edu	37	1	8074382	8074382	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:8074382G>A	ENST00000377482.5	-	4	500	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_Missense_Mutation_p.A67V	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	93					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AGAAGAGGGGGCAAGCTGGAC	0.443																																																	0													132.0	137.0	135.0					1																	8074382		2202	4300	6502	SO:0001583	missense	0			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.277C>T	1.37:g.8074382G>A	ENSP00000366702:p.Pro93Ser		B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6	p.P93S	ENST00000377482.5	37	c.277	CCDS94.1	1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605759	0.28623	.	.	ENSG00000116285	ENST00000377482	T	0.73469	-0.75	5.46	4.54	0.55810	.	0.322563	0.32736	N	0.005705	T	0.64649	0.2617	L	0.33485	1.01	0.25465	N	0.987887	P	0.35745	0.518	B	0.37650	0.255	T	0.52931	-0.8509	10	0.14252	T	0.57	1.3225	15.1819	0.72965	0.0:0.1501:0.8499:0.0	.	93	Q9UJM3	ERRFI_HUMAN	S	93	ENSP00000366702:P93S	ENSP00000366702:P93S	P	-	1	0	ERRFI1	7996969	1.000000	0.71417	0.878000	0.34440	0.219000	0.24729	2.813000	0.48002	1.271000	0.44313	0.655000	0.94253	CCC	ERRFI1	-	NULL	ENSG00000116285		0.443	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERRFI1	HGNC	protein_coding	OTTHUMT00000003617.1	-	0.00	73	0	G	NM_018948		8074382	-1	tier1	-	no_errors	ENST00000377482	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.997	A
ESPNP	284729	genome.wustl.edu	37	1	17026466	17026466	+	RNA	SNP	C	C	T	rs114606754	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:17026466C>T	ENST00000492551.1	-	0	1219					NR_026567.1				espin pseudogene																		GCGGGGCTTGCGGCTGGAGTC	0.736																																																	0																																												0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17026466C>T				RNA	SNP	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-	ENSG00000268869		0.736	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1		0.00	8	0	C			17026466	-1			no_errors	ENST00000492551	ensembl	human	known	74_37	rna	15.15	28	5	SNP	1.000	T
EXOC2	55770	genome.wustl.edu	37	6	610147	610147	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:610147C>T	ENST00000230449.4	-	7	828	c.693G>A	c.(691-693)acG>acA	p.T231T	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	231					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTACTTTTTCCGTTCCATCTG	0.343																																																	0													131.0	125.0	127.0					6																	610147		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.693G>A	6.37:g.610147C>T			B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.T231	ENST00000230449.4	37	c.693	CCDS34327.1	6																																																																																			EXOC2	-	NULL	ENSG00000112685		0.343	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	HGNC	protein_coding	OTTHUMT00000039627.1	-	0.00	70	0	C	NM_018303		610147	-1	tier1	-	no_errors	ENST00000230449	ensembl	human	known	74_37	silent	49.47	48	47	SNP	0.877	T
EXOSC10	5394	genome.wustl.edu	37	1	11141254	11141254	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:11141254G>T	ENST00000376936.4	-	11	1371	c.1322C>A	c.(1321-1323)aCc>aAc	p.T441N	EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Missense_Mutation_p.T441N|EXOSC10_ENST00000544779.1_Missense_Mutation_p.T441N	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	441					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CAGGTAATGGGTGTCATCCCG	0.552																																					Colon(179;105 1987 14326 27364 29542)												0													85.0	84.0	84.0					1																	11141254		2203	4300	6503	SO:0001583	missense	0			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1322C>A	1.37:g.11141254G>T	ENSP00000366135:p.Thr441Asn		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom	p.T441N	ENST00000376936.4	37	c.1322	CCDS30584.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138887	0.77775	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	T;T;T	0.68181	-0.31;-0.31;-0.31	5.77	5.77	0.91146	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.89065	0.6609	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92105	0.5691	10	0.87932	D	0	-23.8875	19.3504	0.94381	0.0:0.0:1.0:0.0	.	441;441	Q01780-2;Q01780	.;EXOSX_HUMAN	N	441	ENSP00000366135:T441N;ENSP00000307307:T441N;ENSP00000439473:T441N	ENSP00000307307:T441N	T	-	2	0	EXOSC10	11063841	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	ACC	EXOSC10	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000171824		0.552	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	-	0.00	34	0	G	NM_001001998		11141254	-1	tier1	-	no_errors	ENST00000376936	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
EYA4	2070	genome.wustl.edu	37	6	133846296	133846296	+	Silent	SNP	A	A	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:133846296A>G	ENST00000367895.5	+	19	2207	c.1743A>G	c.(1741-1743)aaA>aaG	p.K581K	EYA4_ENST00000452339.2_Intron|EYA4_ENST00000355167.3_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000431403.2_Intron|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355286.6_Silent_p.K558K|EYA4_ENST00000531901.1_Silent_p.K587K|EYA4_ENST00000430974.2_Intron	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	581					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTCCAGGAAAAGAAAGTTGCT	0.393																																					Melanoma(57;398 1237 3528 4702 7415)												0													133.0	129.0	130.0					6																	133846296		2203	4300	6503	SO:0001819	synonymous_variant	0			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1743A>G	6.37:g.133846296A>G			B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.K581	ENST00000367895.5	37	c.1743	CCDS5165.1	6																																																																																			EYA4	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000112319		0.393	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	HGNC	protein_coding	OTTHUMT00000042282.2	-	0.00	125	0	A	NM_004100		133846296	+1	tier1	-	no_errors	ENST00000367895	ensembl	human	known	74_37	silent	5.50	103	6	SNP	1.000	G
FAM133A	286499	genome.wustl.edu	37	X	92964531	92964531	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:92964531G>A	ENST00000355813.5	+	4	639	c.113G>A	c.(112-114)aGa>aAa	p.R38K	FAM133A_ENST00000332647.4_Missense_Mutation_p.R38K|FAM133A_ENST00000538690.1_Missense_Mutation_p.R38K|FAM133A_ENST00000322139.4_Missense_Mutation_p.R38K	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	38										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AATCGACCAAGACCCACCTGG	0.373																																																	0													25.0	25.0	25.0					X																	92964531		2187	4284	6471	SO:0001583	missense	0			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.113G>A	X.37:g.92964531G>A	ENSP00000348067:p.Arg38Lys			Missense_Mutation	SNP	NULL	p.R38K	ENST00000355813.5	37	c.113	CCDS14466.1	X	.	.	.	.	.	.	.	.	.	.	g	13.49	2.251414	0.39797	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	3.27	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	M	0.83603	2.65	0.25157	N	0.990385	D	0.59767	0.986	P	0.54706	0.759	T	0.52056	-0.8626	10	0.66056	D	0.02	-10.8439	9.1631	0.37035	0.0:0.0:1.0:0.0	.	38	Q8N9E0	F133A_HUMAN	K	38	ENSP00000441389:R38K;ENSP00000348067:R38K;ENSP00000318974:R38K;ENSP00000362169:R38K	ENSP00000318974:R38K	R	+	2	0	FAM133A	92851187	1.000000	0.71417	0.954000	0.39281	0.542000	0.35054	5.422000	0.66453	1.898000	0.54952	0.591000	0.81541	AGA	FAM133A	-	NULL	ENSG00000179083		0.373	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133A	HGNC	protein_coding	OTTHUMT00000057452.1	-	0.00	148	0	G	NM_173698		92964531	+1	tier1	-	no_errors	ENST00000322139	ensembl	human	known	74_37	missense	12.36	78	11	SNP	0.996	A
FAM81B	153643	genome.wustl.edu	37	5	94749806	94749806	+	Missense_Mutation	SNP	G	G	A	rs374860699		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:94749806G>A	ENST00000283357.5	+	4	495	c.449G>A	c.(448-450)cGa>cAa	p.R150Q		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	150			R -> G (in dbSNP:rs10042271).			nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CATGGCTTTCGAAAAGAGGAA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19279	0.001		0.0	False		,,,				2504	0.0																0								G	GLN/ARG	0,3954		0,0,1977	96.0	97.0	97.0		449	-6.2	0.3	5		97	2,8326		0,2,4162	no	missense	FAM81B	NM_152548.2	43	0,2,6139	AA,AG,GG		0.024,0.0,0.0163	benign	150/453	94749806	2,12280	1977	4164	6141	SO:0001583	missense	0				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.449G>A	5.37:g.94749806G>A	ENSP00000283357:p.Arg150Gln			Missense_Mutation	SNP	NULL	p.R150Q	ENST00000283357.5	37	c.449	CCDS43341.1	5	.	.	.	.	.	.	.	.	.	.	G	5.439	0.266196	0.10294	0.0	2.4E-4	ENSG00000153347	ENST00000283357	T	0.18016	2.24	5.53	-6.25	0.02039	.	0.995025	0.08161	N	0.988427	T	0.12092	0.0294	L	0.34521	1.04	0.09310	N	1	B	0.18741	0.03	B	0.08055	0.003	T	0.29549	-1.0008	10	0.21540	T	0.41	0.0016	15.3845	0.74687	0.8002:0.0:0.1998:0.0	.	150	Q96LP2	FA81B_HUMAN	Q	150	ENSP00000283357:R150Q	ENSP00000283357:R150Q	R	+	2	0	FAM81B	94775562	0.000000	0.05858	0.263000	0.24496	0.010000	0.07245	-0.938000	0.03938	-1.247000	0.02507	-0.143000	0.13931	CGA	FAM81B	-	NULL	ENSG00000153347		0.493	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81B	HGNC	protein_coding	OTTHUMT00000370690.1	-	0.00	49	0	G	NM_152548		94749806	+1	tier1	-	no_errors	ENST00000283357	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.023	A
FASN	2194	genome.wustl.edu	37	17	80041189	80041189	+	Silent	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:80041189G>T	ENST00000306749.2	-	32	5672	c.5454C>A	c.(5452-5454)atC>atA	p.I1818I	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1818	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCCCATCCCGGATGCCGGCCT	0.622																																					Colon(59;314 1043 11189 28578 32273)												0													75.0	71.0	72.0					17																	80041189		2199	4297	6496	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5454C>A	17.37:g.80041189G>T			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.I1818	ENST00000306749.2	37	c.5454	CCDS11801.1	17																																																																																			FASN	-	smart_PKS_ER	ENSG00000169710		0.622	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1		0.00	82	0	G	NM_004104		80041189	-1			no_errors	ENST00000306749	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.755	T
FBXO31	79791	genome.wustl.edu	37	16	87367614	87367614	+	Silent	SNP	G	G	A	rs144062312		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:87367614G>A	ENST00000311635.7	-	8	1287	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.A89V	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	425					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCCCAGGCTCGCCACCATCCT	0.721													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14471	0.0		0.0	False		,,,				2504	0.0																0								G		4,4386		0,4,2191	23.0	25.0	24.0		1275	-2.1	0.0	16	dbSNP_134	24	0,8592		0,0,4296	no	coding-synonymous	FBXO31	NM_024735.3		0,4,6487	AA,AG,GG		0.0,0.0911,0.0308		425/540	87367614	4,12978	2195	4296	6491	SO:0001819	synonymous_variant	0			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1275C>T	16.37:g.87367614G>A			Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.A134V	ENST00000311635.7	37	c.401	CCDS32501.1	16																																																																																			FBXO31	-	NULL	ENSG00000103264		0.721	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	-	0.00	27	0	G	NM_024735		87367614	-1	tier1	rs144062312	no_errors	ENST00000565593	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.000	A
FGFRL1	53834	genome.wustl.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																																	0																																										SO:0001589	frameshift_variant	0				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T482fs	ENST00000398484.2	37	c.1435_1436	CCDS3344.1	4																																																																																			FGFRL1	-	NULL	ENSG00000127418		0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2		0.00	28	0	CA	NM_021923		1019056	+1	tier1		no_errors	ENST00000264748	ensembl	human	known	74_37	frame_shift_del	13.79	25	4	DEL	1.000:1.000	-
FILIP1	27145	genome.wustl.edu	37	6	76072624	76072624	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:76072624C>A	ENST00000237172.7	-	3	616	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	RP11-415D17.3_ENST00000609544.1_RNA|RP11-415D17.3_ENST00000419709.1_RNA|FILIP1_ENST00000393004.2_Missense_Mutation_p.D96Y|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000591821.2_RNA|RP11-415D17.3_ENST00000440220.1_RNA|FILIP1_ENST00000370020.1_5'UTR|RP11-415D17.3_ENST00000588761.1_RNA	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	96										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGGATCACATCTTCTCTGGCC	0.483																																																	0													111.0	112.0	111.0					6																	76072624		2203	4300	6503	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.286G>T	6.37:g.76072624C>A	ENSP00000237172:p.Asp96Tyr		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.D96Y	ENST00000237172.7	37	c.286	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591495	0.86953	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	T;T	0.49139	0.79;0.79	5.99	5.99	0.97316	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.85130	0.997;0.986;0.976	T	0.59418	-0.7458	10	0.62326	D	0.03	-31.0983	20.4777	0.99188	0.0:1.0:0.0:0.0	.	96;96;96	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Y	96	ENSP00000376728:D96Y;ENSP00000237172:D96Y	ENSP00000237172:D96Y	D	-	1	0	FILIP1	76129344	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	GAT	FILIP1	-	pfam_Cortactin-binding_p2_N	ENSG00000118407		0.483	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	-	0.00	40	0	C	XM_029179		76072624	-1	tier1	-	no_errors	ENST00000237172	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A
FLT1	2321	genome.wustl.edu	37	13	28885780	28885780	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:28885780G>T	ENST00000282397.4	-	27	3833	c.3582C>A	c.(3580-3582)ttC>ttA	p.F1194L	FLT1_ENST00000543394.1_Missense_Mutation_p.F217L|FLT1_ENST00000540678.1_Missense_Mutation_p.F412L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1194					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACTTTCCTTGAAGAAGTCCT	0.373																																																	0													109.0	101.0	104.0					13																	28885780		2203	4300	6503	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3582C>A	13.37:g.28885780G>T	ENSP00000282397:p.Phe1194Leu		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.F1194L	ENST00000282397.4	37	c.3582	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	3.928	-0.016654	0.07681	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.76186	-0.78;-0.98;-1.0	6.17	4.45	0.53987	.	0.261917	0.37483	N	0.002063	T	0.52597	0.1744	N	0.19112	0.55	0.80722	D	1	B	0.34015	0.435	B	0.27887	0.084	T	0.45818	-0.9235	10	0.25106	T	0.35	.	6.6211	0.22804	0.0646:0.2347:0.5773:0.1234	.	1194	P17948	VGFR1_HUMAN	L	1194;217;412	ENSP00000282397:F1194L;ENSP00000437841:F217L;ENSP00000443311:F412L	ENSP00000282397:F1194L	F	-	3	2	FLT1	27783780	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	2.509000	0.45459	0.936000	0.37367	-0.169000	0.13324	TTC	FLT1	-	NULL	ENSG00000102755		0.373	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	-	0.00	79	0	G			28885780	-1	tier1	-	no_errors	ENST00000282397	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
FMO5	2330	genome.wustl.edu	37	1	146680547	146680547	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:146680547C>T	ENST00000254090.4	-	6	1085	c.697G>A	c.(697-699)Gat>Aat	p.D233N	FMO5_ENST00000465173.1_5'UTR|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Missense_Mutation_p.D233N|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.D233N	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	233						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					AACAACACATCAGCAGGATAT	0.418																																																	0													99.0	90.0	93.0					1																	146680547		2203	4300	6503	SO:0001583	missense	0			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.697G>A	1.37:g.146680547C>T	ENSP00000254090:p.Asp233Asn		B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.D233N	ENST00000254090.4	37	c.697	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	29.7	5.028932	0.93518	.	.	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272	T;T;T	0.57752	0.38;0.38;0.38	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.76494	0.959;0.97;0.999;0.97	P;P;D;P	0.81914	0.764;0.742;0.995;0.88	T	0.75551	-0.3278	10	0.56958	D	0.05	-24.8488	17.6908	0.88268	0.0:1.0:0.0:0.0	.	233;233;233;233	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	N	233	ENSP00000416011:D233N;ENSP00000254090:D233N;ENSP00000358277:D233N	ENSP00000254090:D233N	D	-	1	0	FMO5	145147171	1.000000	0.71417	0.092000	0.20876	0.051000	0.14879	7.172000	0.77604	2.776000	0.95493	0.585000	0.79938	GAT	FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase	ENSG00000131781		0.418	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	-	0.00	60	0	C	NM_001461		146680547	-1	tier1	-	no_errors	ENST00000254090	ensembl	human	known	74_37	missense	17.39	57	12	SNP	0.995	T
FNDC3B	64778	genome.wustl.edu	37	3	171969173	171969173	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:171969173C>T	ENST00000336824.4	+	6	731	c.632C>T	c.(631-633)tCt>tTt	p.S211F	FNDC3B_ENST00000416957.1_Missense_Mutation_p.S211F|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S211F	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	211					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGCCCTCCTTCTTCTATCTAC	0.537																																																	0													72.0	72.0	72.0					3																	171969173		2203	4300	6503	SO:0001583	missense	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.632C>T	3.37:g.171969173C>T	ENSP00000338523:p.Ser211Phe		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S211F	ENST00000336824.4	37	c.632	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803609	0.90623	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957;ENST00000443501	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.65	5.65	0.86999	.	0.101382	0.64402	D	0.000001	T	0.55081	0.1898	L	0.58669	1.825	0.80722	D	1	D;B	0.55385	0.971;0.312	P;B	0.58454	0.839;0.126	T	0.54309	-0.8313	10	0.62326	D	0.03	-20.7493	19.7111	0.96096	0.0:1.0:0.0:0.0	.	211;211	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	F	211;211;211;184	ENSP00000411242:S211F;ENSP00000338523:S211F;ENSP00000389094:S211F;ENSP00000389064:S184F	ENSP00000338523:S211F	S	+	2	0	FNDC3B	173451867	1.000000	0.71417	0.556000	0.28293	0.918000	0.54935	7.251000	0.78297	2.664000	0.90586	0.491000	0.48974	TCT	FNDC3B	-	NULL	ENSG00000075420		0.537	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	-	0.00	83	0	C	NM_022763		171969173	+1	tier1	-	no_errors	ENST00000336824	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	T
GALNT18	374378	genome.wustl.edu	37	11	11470387	11470387	+	Missense_Mutation	SNP	C	C	T	rs369370082		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:11470387C>T	ENST00000227756.4	-	2	743	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	111					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)										CAGGGCCACGCGCCGGCCTTC	0.662																																																	0													28.0	27.0	28.0					11																	11470387		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.332G>A	11.37:g.11470387C>T	ENSP00000227756:p.Arg111His		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.R111H	ENST00000227756.4	37	c.332	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418901	0.83559	.	.	ENSG00000110328	ENST00000227756	T	0.56941	0.43	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	L	0.39147	1.195	0.46609	D	0.999122	P	0.50943	0.94	B	0.39258	0.295	T	0.53358	-0.8450	10	0.62326	D	0.03	.	17.6521	0.88167	0.0:1.0:0.0:0.0	.	111	Q6P9A2	GLTL4_HUMAN	H	111	ENSP00000227756:R111H	ENSP00000227756:R111H	R	-	2	0	GALNTL4	11426963	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.354000	0.66040	2.500000	0.84329	0.561000	0.74099	CGC	GALNT18	-	NULL	ENSG00000110328		0.662	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1	-	0.00	137	0	C	NM_198516		11470387	-1	tier1	-	no_errors	ENST00000227756	ensembl	human	known	74_37	missense	5.26	108	6	SNP	1.000	T
GALNTL6	442117	genome.wustl.edu	37	4	173730571	173730571	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:173730571C>T	ENST00000506823.1	+	6	1270	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R188C	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	205	Catalytic subdomain A.				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)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAGGATTGTTCGCACCAAGAA	0.478																																																	0													105.0	98.0	101.0					4																	173730571		2203	4300	6503	SO:0001583	missense	0				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.613C>T	4.37:g.173730571C>T	ENSP00000423313:p.Arg205Cys		Q2L4S6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R205C	ENST00000506823.1	37	c.613	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367872	0.82463	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.65916	-0.18;-0.18	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000009	D	0.86049	0.5840	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.89754	0.3942	10	0.87932	D	0	.	19.6346	0.95724	0.0:1.0:0.0:0.0	.	205	Q49A17	GLTL6_HUMAN	C	205;205;188	ENSP00000423313:R205C;ENSP00000423827:R188C	ENSP00000385382:R205C	R	+	1	0	GALNTL6	173967146	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	6.120000	0.71596	2.720000	0.93068	0.491000	0.48974	CGC	GALNTL6	-	pfam_Glyco_trans_2	ENSG00000174473		0.478	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	-	0.00	58	0	C	NM_001034845		173730571	+1	tier1	-	no_errors	ENST00000506823	ensembl	human	known	74_37	missense	42.86	36	27	SNP	1.000	T
GDF9	2661	genome.wustl.edu	37	5	132197864	132197864	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:132197864G>A	ENST00000378673.2	-	3	1648	c.782C>T	c.(781-783)cCc>cTc	p.P261L	GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.P261L			O60383	GDF9_HUMAN	growth differentiation factor 9	261					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATCAGTGAGGGGGACACCAG	0.438																																																	0													82.0	81.0	82.0					5																	132197864		2203	4300	6503	SO:0001583	missense	0				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.782C>T	5.37:g.132197864G>A	ENSP00000367942:p.Pro261Leu		Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.P261L	ENST00000378673.2	37	c.782	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.359883	0.95854	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	D;D	0.85411	-1.98;-1.98	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93744	0.7053	10	0.87932	D	0	.	20.4548	0.99139	0.0:0.0:1.0:0.0	.	261	O60383	GDF9_HUMAN	L	261	ENSP00000367942:P261L;ENSP00000296875:P261L	ENSP00000296875:P261L	P	-	2	0	GDF9	132225763	1.000000	0.71417	0.745000	0.31077	0.187000	0.23431	9.353000	0.97080	2.937000	0.99478	0.650000	0.86243	CCC	GDF9	-	NULL	ENSG00000164404		0.438	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	-	0.00	78	0	G	NM_005260		132197864	-1	tier1	-	no_errors	ENST00000296875	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A
GHRL	51738	genome.wustl.edu	37	3	10331825	10331825	+	Missense_Mutation	SNP	C	C	T	rs540101934		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:10331825C>T	ENST00000335542.8	-	3	910	c.40G>A	c.(40-42)Ggc>Agc	p.G14S	GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000457360.1_Missense_Mutation_p.G14S|GHRL_ENST00000422159.1_Missense_Mutation_p.G14S|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000449238.2_Intron|GHRLOS_ENST00000603771.1_RNA|SEC13_ENST00000492602.1_5'Flank|GHRL_ENST00000446937.2_Intron|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000449554.2_Missense_Mutation_p.G14S|GHRL_ENST00000287656.7_Missense_Mutation_p.G14S|GHRL_ENST00000430179.1_Missense_Mutation_p.G14S|GHRL_ENST00000437422.2_Intron|GHRLOS_ENST00000605014.1_RNA|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000429122.1_Missense_Mutation_p.G14S|GHRL_ENST00000450603.1_Missense_Mutation_p.G14S			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	14					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						CAGAGCATGCCGAGGAGCAGG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		18408	0.001		0.0	False		,,,				2504	0.0																0													32.0	32.0	32.0					3																	10331825		2203	4300	6503	SO:0001583	missense	0			AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.40G>A	3.37:g.10331825C>T	ENSP00000335074:p.Gly14Ser		A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Missense_Mutation	SNP	pfam_Motilin_assoc,pfam_Motilin_ghrelin,prints_Preproghrelin	p.G14S	ENST00000335542.8	37	c.40	CCDS33700.1	3	.	.	.	.	.	.	.	.	.	.	C	3.482	-0.105729	0.06924	.	.	ENSG00000157017	ENST00000335542;ENST00000430179;ENST00000450603;ENST00000449554;ENST00000422159;ENST00000287656;ENST00000457360;ENST00000429122;ENST00000425479	T;T;T;T;T;T;T;T	0.33865	1.88;1.88;1.88;1.88;1.39;1.88;1.88;1.88	4.74	2.2	0.27929	.	0.167448	0.43110	N	0.000602	T	0.08670	0.0215	N	0.00500	-1.43	0.24335	N	0.994982	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.06405	0.001;0.002;0.0	T	0.32798	-0.9893	10	0.13108	T	0.6	-4.075	5.9515	0.19248	0.0:0.2113:0.0:0.7887	.	14;14;14	Q9UBU3;Q9UBU3-2;Q86YP8	GHRL_HUMAN;.;.	S	14	ENSP00000335074:G14S;ENSP00000399922:G14S;ENSP00000389192:G14S;ENSP00000415521:G14S;ENSP00000405464:G14S;ENSP00000287656:G14S;ENSP00000391406:G14S;ENSP00000414819:G14S	ENSP00000287656:G14S	G	-	1	0	GHRL	10306825	0.716000	0.27956	0.918000	0.36340	0.041000	0.13682	0.056000	0.14256	0.331000	0.23511	-0.459000	0.05422	GGC	GHRL	-	NULL	ENSG00000157017		0.647	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GHRL	HGNC	protein_coding	OTTHUMT00000339625.1	-	0.00	23	0	C	NM_016362		10331825	-1	tier1	-	no_errors	ENST00000335542	ensembl	human	known	74_37	missense	45.16	17	14	SNP	0.986	T
GJA5	2702	genome.wustl.edu	37	1	147230837	147230837	+	Silent	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:147230837G>T	ENST00000271348.2	-	2	671	c.510C>A	c.(508-510)ggC>ggA	p.G170G	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Silent_p.G170G	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	170					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGAAGTACTGGCCCACAATGA	0.577																																																	0													101.0	93.0	96.0					1																	147230837		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.510C>A	1.37:g.147230837G>T			Q5T3B6|Q5U0N6	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.G170	ENST00000271348.2	37	c.510	CCDS929.1	1																																																																																			GJA5	-	pfam_Connexin_CCC,prints_Connexin	ENSG00000143140		0.577	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	HGNC	protein_coding	OTTHUMT00000039422.2	-	0.00	26	0	G	NM_181703		147230837	-1	tier1	-	no_errors	ENST00000271348	ensembl	human	known	74_37	silent	33.33	14	7	SNP	1.000	T
GMIP	51291	genome.wustl.edu	37	19	19746376	19746376	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:19746376G>T	ENST00000203556.4	-	15	1545	c.1408C>A	c.(1408-1410)Ctg>Atg	p.L470M	GMIP_ENST00000587238.1_Missense_Mutation_p.L444M|GMIP_ENST00000445806.2_Missense_Mutation_p.L441M|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	470					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCGTCTCCCAGGTCTGCAGGG	0.667																																																	0													59.0	58.0	59.0					19																	19746376		2203	4300	6503	SO:0001583	missense	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1408C>A	19.37:g.19746376G>T	ENSP00000203556:p.Leu470Met		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L470M	ENST00000203556.4	37	c.1408	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352579	0.41700	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.25250	1.91;1.81	4.59	3.53	0.40419	.	0.225617	0.22617	N	0.057741	T	0.36413	0.0966	L	0.50333	1.59	0.30645	N	0.756022	D;D;D	0.71674	0.998;0.997;0.997	D;P;P	0.66196	0.942;0.85;0.85	T	0.24012	-1.0172	10	0.33141	T	0.24	-7.278	6.3717	0.21485	0.1002:0.189:0.7108:0.0	.	441;444;470	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	M	470;441	ENSP00000203556:L470M;ENSP00000397075:L441M	ENSP00000203556:L470M	L	-	1	2	GMIP	19607376	0.963000	0.33076	1.000000	0.80357	0.982000	0.71751	0.562000	0.23531	0.892000	0.36259	0.561000	0.74099	CTG	GMIP	-	NULL	ENSG00000089639		0.667	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	-	0.00	31	0	G	NM_016573		19746376	-1	tier1	-	no_errors	ENST00000203556	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.919	T
GNAI1	2770	genome.wustl.edu	37	7	79818445	79818445	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:79818445A>C	ENST00000351004.3	+	3	574	c.201A>C	c.(199-201)aaA>aaC	p.K67N	GNAI1_ENST00000490206.1_3'UTR|GNAI1_ENST00000457358.2_Missense_Mutation_p.K15N	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	67					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AGGAGTGTAAACAATACAAAG	0.393																																																	0													129.0	127.0	128.0					7																	79818445		2203	4300	6503	SO:0001583	missense	0			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.201A>C	7.37:g.79818445A>C	ENSP00000343027:p.Lys67Asn		A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha	p.K67N	ENST00000351004.3	37	c.201	CCDS5595.1	7	.	.	.	.	.	.	.	.	.	.	A	13.88	2.369250	0.42003	.	.	ENSG00000127955	ENST00000351004;ENST00000418742;ENST00000457358;ENST00000447650	D;D;D;T	0.88664	-2.41;-2.41;-2.41;0.9	6.04	-0.621	0.11564	G protein alpha subunit, helical insertion (2);	0.041254	0.85682	N	0.000000	T	0.81356	0.4805	L	0.42581	1.335	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.66015	-0.6028	9	.	.	.	.	10.5608	0.45144	0.6981:0.0:0.3019:0.0	.	67	P63096	GNAI1_HUMAN	N	67;15;15;15	ENSP00000343027:K67N;ENSP00000389435:K15N;ENSP00000410572:K15N;ENSP00000388347:K15N	.	K	+	3	2	GNAI1	79656381	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	1.164000	0.31810	-0.309000	0.08779	0.477000	0.44152	AAA	GNAI1	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Fungi_Gprotein_alpha	ENSG00000127955		0.393	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI1	HGNC	protein_coding	OTTHUMT00000253254.1	-	0.00	53	0	A	NM_002069		79818445	+1	tier1	-	no_errors	ENST00000351004	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	C
GP5	2814	genome.wustl.edu	37	3	194118889	194118889	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:194118889C>T	ENST00000401815.1	-	1	194	c.123G>A	c.(121-123)gcG>gcA	p.A41A	GP5_ENST00000323007.3_Silent_p.A41A			P40197	GPV_HUMAN	glycoprotein V (platelet)	41	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGGAGATGCGCGCCACGTCGC	0.706																																																	0													29.0	30.0	30.0					3																	194118889		2190	4286	6476	SO:0001819	synonymous_variant	0			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.123G>A	3.37:g.194118889C>T			D1MER9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A41	ENST00000401815.1	37	c.123	CCDS3307.1	3																																																																																			GP5	-	NULL	ENSG00000178732		0.706	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP5	HGNC	protein_coding	OTTHUMT00000317710.1		0.00	27	0	C	NM_004488		194118889	-1			no_errors	ENST00000323007	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.000	T
GPNMB	10457	genome.wustl.edu	37	7	23293803	23293803	+	Missense_Mutation	SNP	C	C	T	rs145407985	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:23293803C>T	ENST00000381990.2	+	3	400	c.239C>T	c.(238-240)gCg>gTg	p.A80V	GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000258733.4_Missense_Mutation_p.A80V|GPNMB_ENST00000453162.2_Missense_Mutation_p.A80V|GPNMB_ENST00000409458.3_Missense_Mutation_p.A80V	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	80					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.A80V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGTGTGCAGGCGGTCCTGACC	0.458													C|||	2	0.000399361	0.0	0.0	5008	,	,		16129	0.002		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)						C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	108.0	113.0	111.0		239,239	5.3	0.9	7	dbSNP_134	111	0,8600		0,0,4300	no	missense,missense	GPNMB	NM_001005340.1,NM_002510.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	80/573,80/561	23293803	1,13005	2203	4300	6503	SO:0001583	missense	0			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.239C>T	7.37:g.23293803C>T	ENSP00000371420:p.Ala80Val		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.A80V	ENST00000381990.2	37	c.239	CCDS34610.1	7	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396907	0.42512	2.27E-4	0.0	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000453162	T;T;T	0.13420	2.59;2.61;2.62	6.17	5.3	0.74995	.	0.073610	0.56097	D	0.000028	T	0.29158	0.0725	L	0.57536	1.79	0.35035	D	0.759118	D;D;P;D	0.89917	0.999;1.0;0.58;1.0	D;D;B;D	0.87578	0.964;0.998;0.126;0.998	T	0.20605	-1.0270	10	0.02654	T	1	-21.0265	15.6955	0.77494	0.0:0.9348:0.0:0.0652	.	80;80;80;80	F5GY20;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	V	80;115;80;80;80	ENSP00000258733:A80V;ENSP00000371420:A80V;ENSP00000405586:A80V	ENSP00000258733:A80V	A	+	2	0	GPNMB	23260328	0.981000	0.34729	0.916000	0.36221	0.167000	0.22549	2.490000	0.45294	1.625000	0.50366	0.655000	0.94253	GCG	GPNMB	-	NULL	ENSG00000136235		0.458	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPNMB	HGNC	protein_coding	OTTHUMT00000327152.1		0.00	91	0	C	NM_001005340		23293803	+1			no_errors	ENST00000381990	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.987	T
GPR56	9289	genome.wustl.edu	37	16	57685510	57685510	+	Missense_Mutation	SNP	G	G	A	rs199910467		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:57685510G>A	ENST00000388812.4	+	3	903	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	GPR56_ENST00000456916.1_Missense_Mutation_p.A155T|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000540164.2_Missense_Mutation_p.A155T|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000379696.3_Missense_Mutation_p.A155T|GPR56_ENST00000568908.1_Missense_Mutation_p.A155T|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000538815.1_Missense_Mutation_p.A155T|GPR56_ENST00000388813.5_Missense_Mutation_p.A155T|GPR56_ENST00000562631.1_Missense_Mutation_p.A155T|GPR56_ENST00000567835.1_Missense_Mutation_p.A155T|GPR56_ENST00000562558.1_Missense_Mutation_p.A155T|GPR56_ENST00000568909.1_Missense_Mutation_p.A155T			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	155					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GCCCAGTGCCGCCAGCTTCAC	0.602																																																	0													29.0	30.0	30.0					16																	57685510		2198	4300	6498	SO:0001583	missense	0			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.463G>A	16.37:g.57685510G>A	ENSP00000373464:p.Ala155Thr		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.A155T	ENST00000388812.4	37	c.463	CCDS32460.1	16	.	.	.	.	.	.	.	.	.	.	G	0.613	-0.824423	0.02755	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000379696	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.21	-10.4	0.00318	.	0.935269	0.08946	N	0.870815	T	0.27594	0.0678	L	0.54323	1.7	0.19300	N	0.999979	B;B;B	0.25667	0.017;0.131;0.08	B;B;B	0.18871	0.005;0.023;0.01	T	0.06789	-1.0807	10	0.42905	T	0.14	.	6.0264	0.19658	0.0629:0.1972:0.2396:0.5002	.	160;155;155	B4DR54;Q9Y653-2;Q9Y653	.;.;GPR56_HUMAN	T	155	ENSP00000373465:A155T;ENSP00000373464:A155T;ENSP00000444415:A155T;ENSP00000398034:A155T;ENSP00000444911:A155T;ENSP00000369018:A155T	ENSP00000369018:A155T	A	+	1	0	GPR56	56243011	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.687000	0.01927	-3.253000	0.00204	-2.547000	0.00178	GCC	GPR56	-	NULL	ENSG00000205336		0.602	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3		0.00	28	0	G			57685510	+1			no_errors	ENST00000379696	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.000	A
GRIA4	2893	genome.wustl.edu	37	11	105781206	105781206	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:105781206G>T	ENST00000530497.1	+	9	1204	c.1204G>T	c.(1204-1206)Gta>Tta	p.V402L	GRIA4_ENST00000525187.1_Missense_Mutation_p.V402L|GRIA4_ENST00000428631.2_Missense_Mutation_p.V402L|GRIA4_ENST00000282499.5_Missense_Mutation_p.V402L|GRIA4_ENST00000393125.2_Missense_Mutation_p.V402L|GRIA4_ENST00000393127.2_Missense_Mutation_p.V402L			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	402					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GATTCAAGATGTACCAACTCT	0.373																																																	0													255.0	203.0	221.0					11																	105781206		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1204G>T	11.37:g.105781206G>T	ENSP00000435775:p.Val402Leu		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V402L	ENST00000530497.1	37	c.1204	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	4.971	0.180425	0.09443	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	6.08	3.17	0.36434	.	0.478276	0.19310	N	0.117412	T	0.13030	0.0316	N	0.08118	0	0.20074	N	0.999931	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.22103	-1.0226	10	0.23302	T	0.38	.	12.3255	0.55009	0.1876:0.0:0.8124:0.0	.	402;402;402	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	L	402	ENSP00000376833:V402L;ENSP00000282499:V402L;ENSP00000376835:V402L;ENSP00000415551:V402L;ENSP00000435775:V402L;ENSP00000432180:V402L	ENSP00000282499:V402L	V	+	1	0	GRIA4	105286416	1.000000	0.71417	0.677000	0.29947	0.955000	0.61496	3.620000	0.54203	0.889000	0.36185	0.591000	0.81541	GTA	GRIA4	-	superfamily_Peripla_BP_I	ENSG00000152578		0.373	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1		0.00	105	0	G			105781206	+1			no_errors	ENST00000282499	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.571	T
GRIK3	2899	genome.wustl.edu	37	1	37267539	37267539	+	Silent	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:37267539G>A	ENST00000373091.3	-	16	2689	c.2673C>T	c.(2671-2673)gtC>gtT	p.V891V		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	891					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GCATGTTGATGACGGCGTCAG	0.592																																																	0													113.0	91.0	98.0					1																	37267539		2203	4300	6503	SO:0001819	synonymous_variant	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2673C>T	1.37:g.37267539G>A			A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V891	ENST00000373091.3	37	c.2673	CCDS416.1	1																																																																																			GRIK3	-	NULL	ENSG00000163873		0.592	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0.00	38	0	G	NM_000831		37267539	-1	tier1	-	no_errors	ENST00000373091	ensembl	human	known	74_37	silent	66.04	18	35	SNP	1.000	A
GRIP1	23426	genome.wustl.edu	37	12	66773066	66773066	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:66773066G>T	ENST00000398016.3	-	19	2527	c.2459C>A	c.(2458-2460)gCc>gAc	p.A820D	GRIP1_ENST00000359742.4_Missense_Mutation_p.A872D|GRIP1_ENST00000286445.7_Missense_Mutation_p.A872D	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTACCCACTGGCTGTGGACCG	0.498																																																	0													169.0	164.0	166.0					12																	66773066		1943	4136	6079	SO:0001583	missense	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2459C>A	12.37:g.66773066G>T	ENSP00000381098:p.Ala820Asp		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A872D	ENST00000398016.3	37	c.2615	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.85|13.85	2.359245|2.359245	0.41801|0.41801	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.78481|.	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18|.	4.91|4.91	2.98|2.98	0.34508|0.34508	.|.	0.598172|.	0.18609|.	N|.	0.136206|.	T|T	0.55242|0.55242	0.1908|0.1908	L|L	0.44542|0.44542	1.39|1.39	0.37541|0.37541	D|D	0.91831|0.91831	B;B;B;B|.	0.28933|.	0.053;0.024;0.228;0.068|.	B;B;B;B|.	0.31946|.	0.008;0.037;0.138;0.124|.	T|T	0.54912|0.54912	-0.8222|-0.8222	9|5	.|.	.|.	.|.	-7.3265|-7.3265	10.6513|10.6513	0.45649|0.45649	0.121:0.0:0.879:0.0|0.121:0.0:0.879:0.0	.|.	820;872;820;872|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	D|T	820;872;872;820;764;712|687	ENSP00000381098:A820D;ENSP00000352780:A872D;ENSP00000286445:A872D;ENSP00000446047:A820D;ENSP00000446024:A764D;ENSP00000446011:A712D|.	.|.	A|P	-|-	2|1	0|0	GRIP1|GRIP1	65059333|65059333	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.970000|0.970000	0.65996|0.65996	4.685000|4.685000	0.61693|0.61693	0.685000|0.685000	0.31468|0.31468	0.561000|0.561000	0.74099|0.74099	GCC|CCA	GRIP1	-	NULL	ENSG00000155974		0.498	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	-	0.00	75	0	G			66773066	-1	tier1	-	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.911	T
GRM7	2917	genome.wustl.edu	37	3	6903327	6903327	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:6903327C>T	ENST00000357716.4	+	1	526	c.252C>T	c.(250-252)taC>taT	p.Y84Y	GRM7_ENST00000402647.2_Silent_p.Y84Y|GRM7_ENST00000403881.1_Silent_p.Y84Y|GRM7_ENST00000389336.4_Silent_p.Y84Y|GRM7_ENST00000486284.1_Silent_p.Y84Y	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	84					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						CGATGCTCTACGCCCTGGACC	0.632																																																	0													40.0	35.0	37.0					3																	6903327		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.252C>T	3.37:g.6903327C>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.Y84	ENST00000357716.4	37	c.252	CCDS43042.1	3																																																																																			GRM7	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000196277		0.632	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	-	0.00	79	0	C	NM_000844		6903327	+1	tier1	-	no_errors	ENST00000402647	ensembl	human	known	74_37	silent	37.78	28	17	SNP	1.000	T
GTDC1	79712	genome.wustl.edu	37	2	144969108	144969108	+	5'UTR	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:144969108G>T	ENST00000392869.2	-	0	103				GTDC1_ENST00000409298.1_5'UTR|GTDC1_ENST00000344850.4_5'UTR|GTDC1_ENST00000467352.1_5'UTR|GTDC1_ENST00000241391.5_5'UTR|GTDC1_ENST00000542155.1_5'UTR|GTDC1_ENST00000392867.3_5'UTR|GTDC1_ENST00000409214.1_5'UTR|GTDC1_ENST00000463875.2_Intron	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GCAGCAAGATGAAAATGCGTT	0.393																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.-50C>A	2.37:g.144969108G>T			A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	RNA	SNP	-	NULL	ENST00000392869.2	37	NULL	CCDS33300.1	2																																																																																			GTDC1	-	-	ENSG00000121964		0.393	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC1	HGNC	protein_coding	OTTHUMT00000254779.2	-	0.00	101	0	G	NM_024659		144969108	-1	tier1	-	no_errors	ENST00000467352	ensembl	human	known	74_37	rna	5.13	74	4	SNP	0.998	T
HDX	139324	genome.wustl.edu	37	X	83724243	83724243	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:83724243T>G	ENST00000297977.5	-	3	599	c.488A>C	c.(487-489)aAa>aCa	p.K163T	HDX_ENST00000506585.2_Missense_Mutation_p.K105T|HDX_ENST00000373177.2_Missense_Mutation_p.K163T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	163						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGAAGCATTTTTACAGTGTGC	0.358																																					Pancreas(53;231 1169 36156 43751 51139)												0													204.0	168.0	180.0					X																	83724243		2203	4300	6503	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.488A>C	X.37:g.83724243T>G	ENSP00000297977:p.Lys163Thr		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.K163T	ENST00000297977.5	37	c.488	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	T	15.11	2.737154	0.49045	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.61627	1.68;1.23;1.68;0.09	4.9	4.9	0.64082	.	0.249746	0.40728	N	0.001039	T	0.70046	0.3179	L	0.51422	1.61	0.46609	D	0.999121	D	0.76494	0.999	D	0.78314	0.991	T	0.73421	-0.3988	10	0.87932	D	0	-12.4331	13.8759	0.63653	0.0:0.0:0.0:1.0	.	163	Q7Z353	HDX_HUMAN	T	163;105;163;105	ENSP00000297977:K163T;ENSP00000362272:K105T;ENSP00000423670:K163T;ENSP00000387790:K105T	ENSP00000297977:K163T	K	-	2	0	HDX	83610899	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.050000	0.64251	1.920000	0.55613	0.417000	0.27973	AAA	HDX	-	NULL	ENSG00000165259		0.358	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	-	0.00	51	0	T	NM_144657		83724243	-1	tier1	-	no_errors	ENST00000297977	ensembl	human	known	74_37	missense	7.87	82	7	SNP	1.000	G
HERC2P3	283755	genome.wustl.edu	37	15	20588507	20588507	+	RNA	SNP	A	A	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:20588507A>T	ENST00000428453.1	-	0	4243							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTAGGGAAAACCTGAGCAAC	0.493																																																	0																																												0			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588507A>T				RNA	SNP	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			HERC2P3	-	-	ENSG00000180229		0.493	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	HGNC	pseudogene	OTTHUMT00000347772.2	-	0.00	40	0	A	NG_008269		20588507	-1	tier1	-	no_errors	ENST00000428453	ensembl	human	known	74_37	rna	8.00	46	4	SNP	0.000	T
HERC2P3	283755	genome.wustl.edu	37	15	20657819	20657819	+	RNA	SNP	A	A	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:20657819A>T	ENST00000428453.1	-	0	2146							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATACCTAGTGAGCATTGGCAC	0.488																																																	0													90.0	80.0	83.0					15																	20657819		2175	4236	6411			0			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20657819A>T				RNA	SNP	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			HERC2P3	-	-	ENSG00000180229		0.488	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	HGNC	pseudogene	OTTHUMT00000347772.2	-	0.00	241	0	A	NG_008269		20657819	-1	tier1	-	no_errors	ENST00000437318	ensembl	human	known	74_37	rna	33.87	123	63	SNP	0.257	T
HFM1	164045	genome.wustl.edu	37	1	91779035	91779035	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:91779035G>T	ENST00000370425.3	-	30	3360	c.3262C>A	c.(3262-3264)Cag>Aag	p.Q1088K	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.Q320K|HFM1_ENST00000370424.3_Missense_Mutation_p.Q767K	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1088	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTAAGTTTCTGCTGAATATCA	0.308																																																	0													79.0	78.0	78.0					1																	91779035		2202	4297	6499	SO:0001583	missense	0			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3262C>A	1.37:g.91779035G>T	ENSP00000359454:p.Gln1088Lys		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1088K	ENST00000370425.3	37	c.3262	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.47|12.47	1.947118|1.947118	0.34377|0.34377	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.60548|.	0.18;0.18;0.18|.	5.57|5.57	3.6|3.6	0.41247|0.41247	Sec63 domain (2);|.	0.232430|.	0.36932|.	N|.	0.002334|.	T|T	0.30541|0.30541	0.0768|0.0768	L|L	0.42581|0.42581	1.335|1.335	0.27940|0.27940	N|N	0.937566|0.937566	B;B;B|.	0.17852|.	0.004;0.005;0.024|.	B;B;B|.	0.20384|.	0.005;0.029;0.02|.	T|T	0.19289|0.19289	-1.0310|-1.0310	10|5	0.05959|.	T|.	0.93|.	.|.	14.3457|14.3457	0.66662|0.66662	0.0:0.0:0.7294:0.2706|0.0:0.0:0.7294:0.2706	.|.	767;299;1088|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	K|R	1088;320;767;772|299	ENSP00000359454:Q1088K;ENSP00000294696:Q320K;ENSP00000359453:Q767K|.	ENSP00000294696:Q320K|.	Q|S	-|-	1|3	0|2	HFM1|HFM1	91551623|91551623	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.976000|0.976000	0.68499|0.68499	4.685000|4.685000	0.61693|0.61693	0.635000|0.635000	0.30488|0.30488	0.591000|0.591000	0.81541|0.81541	CAG|AGC	HFM1	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000162669		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	-	0.00	42	0	G	NM_001017975		91779035	-1	tier1	-	no_errors	ENST00000370425	ensembl	human	known	74_37	missense	19.35	50	12	SNP	1.000	T
HMGB3	3149	genome.wustl.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																																	1	Substitution - coding silent(1)	large_intestine(1)											50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	0			AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A			O95556|Q6NS40	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E192	ENST00000325307.7	37	c.576	CCDS35428.1	X																																																																																			HMGB3	-	NULL	ENSG00000029993		0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HMGB3	HGNC	protein_coding	OTTHUMT00000060867.1	-	0.00	58	0	G	NM_005342		150156360	+1	tier1	-	no_errors	ENST00000325307	ensembl	human	known	74_37	silent	11.90	37	5	SNP	0.985	A
HRH2	3274	genome.wustl.edu	37	5	175110582	175110582	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:175110582C>T	ENST00000231683.2	+	1	2119	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	HRH2_ENST00000377291.2_Missense_Mutation_p.R116W	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	116					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CAGCCTCGACCGGTACTGCGC	0.537																																																	0													122.0	103.0	110.0					5																	175110582		2203	4300	6503	SO:0001583	missense	0				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.346C>T	5.37:g.175110582C>T	ENSP00000231683:p.Arg116Trp		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.R116W	ENST00000231683.2	37	c.346	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902610	0.72754	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	D;D	0.97186	-4.28;-4.28	5.46	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.99312	4.51	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98725	1.0710	10	0.87932	D	0	.	13.9857	0.64334	0.3959:0.6041:0.0:0.0	.	116;116	P25021;Q7Z5R9	HRH2_HUMAN;.	W	116	ENSP00000366506:R116W;ENSP00000231683:R116W	ENSP00000231683:R116W	R	+	1	2	HRH2	175043188	1.000000	0.71417	0.986000	0.45419	0.955000	0.61496	4.882000	0.63121	0.241000	0.21283	0.462000	0.41574	CGG	HRH2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000113749		0.537	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1		0.00	41	0	C			175110582	+1			no_errors	ENST00000377291	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53561025	53561025	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:53561025T>C	ENST00000342160.3	-	82	13422	c.12965A>G	c.(12964-12966)aAg>aGg	p.K4322R	HUWE1_ENST00000262854.6_Missense_Mutation_p.K4322R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4322	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GATCTGAAACTTCTGAATGCC	0.502																																																	0													153.0	115.0	128.0					X																	53561025		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12965A>G	X.37:g.53561025T>C	ENSP00000340648:p.Lys4322Arg		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.K4322R	ENST00000342160.3	37	c.12965	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	T	13.39	2.222504	0.39300	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.59502	0.26;0.26	5.42	5.42	0.78866	HECT (4);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	N	0.25992	0.78	0.80722	D	1	D;P	0.53312	0.959;0.949	D;D	0.69654	0.965;0.942	T	0.58092	-0.7697	10	0.22706	T	0.39	.	13.6929	0.62559	0.0:0.0:0.0:1.0	.	4322;4306	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	R	4322	ENSP00000340648:K4322R;ENSP00000262854:K4322R	ENSP00000262854:K4322R	K	-	2	0	HUWE1	53577750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.154000	0.77437	1.946000	0.56461	0.430000	0.28490	AAG	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0.00	86	0	T	XM_497119		53561025	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	C
IGF2BP3	10643	genome.wustl.edu	37	7	23401175	23401175	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:23401175A>C	ENST00000258729.3	-	5	735	c.379T>G	c.(379-381)Tcc>Gcc	p.S127A	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	127	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCCTTACTGGAATAGGTTACA	0.343																																																	0													128.0	128.0	128.0					7																	23401175		2203	4300	6503	SO:0001583	missense	0			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.379T>G	7.37:g.23401175A>C	ENSP00000258729:p.Ser127Ala		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.S127A	ENST00000258729.3	37	c.379	CCDS5382.1	7	.	.	.	.	.	.	.	.	.	.	A	9.285	1.049056	0.19827	.	.	ENSG00000136231	ENST00000258729	T	0.14893	2.47	5.32	2.85	0.33270	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.302826	0.34338	N	0.004059	T	0.07683	0.0193	N	0.17082	0.46	0.29471	N	0.857058	B	0.02656	0.0	B	0.11329	0.006	T	0.30268	-0.9984	10	0.08381	T	0.77	-11.5069	6.0993	0.20039	0.4804:0.3871:0.0:0.1325	.	127	O00425	IF2B3_HUMAN	A	127	ENSP00000258729:S127A	ENSP00000258729:S127A	S	-	1	0	IGF2BP3	23367700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.565000	0.53798	1.996000	0.58369	0.460000	0.39030	TCC	IGF2BP3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000136231		0.343	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	HGNC	protein_coding	OTTHUMT00000250243.2	-	0.00	71	0	A	NM_006547		23401175	-1	tier1	-	no_errors	ENST00000258729	ensembl	human	known	74_37	missense	26.79	41	15	SNP	1.000	C
IL13RA2	3598	genome.wustl.edu	37	X	114239844	114239844	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:114239844G>T	ENST00000371936.1	-	10	1281	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L	IL13RA2_ENST00000243213.1_Missense_Mutation_p.F344L			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	344					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						ATGGTAGCCAGAAACGTAGCA	0.363																																																	0													73.0	70.0	71.0					X																	114239844		2203	4300	6503	SO:0001583	missense	0			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.1032C>A	X.37:g.114239844G>T	ENSP00000361004:p.Phe344Leu		A8K7E2|O00667	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.F344L	ENST00000371936.1	37	c.1032	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	G	4.734	0.136474	0.09032	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.89123	-2.47;-2.47	3.83	0.0805	0.14421	.	3.375640	0.00604	N	0.000387	D	0.84224	0.5425	L	0.56769	1.78	0.09310	N	1	B	0.20780	0.048	B	0.17979	0.02	T	0.65080	-0.6255	10	0.02654	T	1	-9.9183	6.3178	0.21200	0.4888:0.0:0.5112:0.0	.	344	Q14627	I13R2_HUMAN	L	344	ENSP00000361004:F344L;ENSP00000243213:F344L	ENSP00000243213:F344L	F	-	3	2	IL13RA2	114146100	0.033000	0.19621	0.002000	0.10522	0.005000	0.04900	-0.029000	0.12329	-0.108000	0.12066	0.513000	0.50165	TTC	IL13RA2	-	NULL	ENSG00000123496		0.363	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	-	0.00	181	0	G	NM_000640		114239844	-1	tier1	-	no_errors	ENST00000243213	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.002	T
IL9R	3581	genome.wustl.edu	37	X	155234144	155234144	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:155234144A>C	ENST00000244174.5	+	5	672	c.493A>C	c.(493-495)Acc>Ccc	p.T165P	IL9R_ENST00000369423.2_Missense_Mutation_p.T200P|IL9R_ENST00000424344.3_Missense_Mutation_p.T144P|IL9R_ENST00000540897.1_Missense_Mutation_p.T190P	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	165	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGCATCCTGACCTGGAGCAT	0.552																																																	0													130.0	109.0	116.0					X																	155234144		2203	4296	6499	SO:0001583	missense	0			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.493A>C	X.37:g.155234144A>C	ENSP00000244174:p.Thr165Pro		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.T165P	ENST00000244174.5	37	c.493	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	.	17.11	3.305188	0.60305	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	1.44	1.44	0.22558	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.561911	0.16800	N	0.199038	T	0.76593	0.4009	.	.	.	0.09310	N	1	D;D;D	0.76494	0.996;0.999;0.983	D;D;P	0.67548	0.919;0.952;0.551	T	0.62849	-0.6767	9	0.59425	D	0.04	-15.363	4.5949	0.12325	1.0:0.0:0.0:0.0	.	144;165;200	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	P	165;144;144;200;190	ENSP00000244174:T165P;ENSP00000388918:T144P;ENSP00000358431:T200P;ENSP00000438112:T190P	ENSP00000244174:T165P	T	+	1	0	IL9R	154887338	0.685000	0.27652	0.842000	0.33263	0.742000	0.42306	0.658000	0.24979	0.832000	0.34804	0.238000	0.17879	ACC	IL9R	-	superfamily_Fibronectin_type3	ENSG00000124334		0.552	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	-	0.00	115	0	A	NM_002186		155234144	+1	tier1	-	no_errors	ENST00000244174	ensembl	human	known	74_37	missense	21.77	97	27	SNP	0.824	C
IMPG1	3617	genome.wustl.edu	37	6	76640790	76640790	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:76640790G>A	ENST00000369950.3	-	15	2312	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	IMPG1_ENST00000369963.3_3'UTR|Y_RNA_ENST00000363170.1_RNA	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.A708V(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCGACACTCCGCTTCCTCAGT	0.562																																					Pancreas(37;839 1141 2599 26037)												1	Substitution - Missense(1)	breast(1)											107.0	85.0	93.0					6																	76640790		2203	4300	6503	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2123C>T	6.37:g.76640790G>A	ENSP00000358966:p.Ala708Val			Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.A708V	ENST00000369950.3	37	c.2123	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575066	0.45902	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.32272	1.74;1.46	5.45	1.74	0.24563	Epidermal growth factor-like, type 3 (1);	0.411437	0.21614	N	0.071755	T	0.33585	0.0868	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07501	-1.0769	10	0.45353	T	0.12	.	9.1989	0.37246	0.2857:0.0:0.7143:0.0	.	708	Q17R60	IMPG1_HUMAN	V	708;69	ENSP00000358966:A708V;ENSP00000358968:A69V	ENSP00000358966:A708V	A	-	2	0	IMPG1	76697510	1.000000	0.71417	0.037000	0.18230	0.186000	0.23388	4.108000	0.57817	0.028000	0.15324	-0.677000	0.03784	GCG	IMPG1	-	pfscan_EG-like_dom	ENSG00000112706		0.562	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1		0.00	54	0	G	NM_001563		76640790	-1			no_errors	ENST00000369950	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.876	A
INSL5	10022	genome.wustl.edu	37	1	67263857	67263857	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:67263857G>T	ENST00000304526.2	-	2	281	c.247C>A	c.(247-249)Ccg>Acg	p.P83T		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	83						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						TCCACCTTCGGAAGGTTTTGC	0.463																																																	0													105.0	104.0	104.0					1																	67263857		2203	4300	6503	SO:0001583	missense	0			AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"""Endogenous ligands"""	6088	protein-coding gene	gene with protein product	"""prepro-INSL5"""	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.247C>A	1.37:g.67263857G>T	ENSP00000302724:p.Pro83Thr		Q3MIY4|Q5VYD8	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like	p.P83T	ENST00000304526.2	37	c.247	CCDS634.1	1	.	.	.	.	.	.	.	.	.	.	G	2.284	-0.364122	0.05103	.	.	ENSG00000172410	ENST00000304526	T	0.63255	-0.03	4.64	1.65	0.23941	Insulin-like (3);	0.958298	0.08571	N	0.926045	T	0.28896	0.0717	L	0.39245	1.2	0.09310	N	1	B	0.27882	0.192	B	0.28553	0.091	T	0.26224	-1.0109	10	0.30078	T	0.28	-20.762	6.6332	0.22869	0.0964:0.3476:0.556:0.0	.	83	Q9Y5Q6	INSL5_HUMAN	T	83	ENSP00000302724:P83T	ENSP00000302724:P83T	P	-	1	0	INSL5	67036445	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.542000	0.23222	0.164000	0.19529	-0.263000	0.10527	CCG	INSL5	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like	ENSG00000172410		0.463	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL5	HGNC	protein_coding	OTTHUMT00000025403.1		0.00	85	0	G	NM_005478		67263857	-1			no_errors	ENST00000304526	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	T
IQCG	84223	genome.wustl.edu	37	3	197639737	197639737	+	Intron	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:197639737C>T	ENST00000265239.6	-	9	1313				IQCG_ENST00000455191.1_Intron	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G							extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GCTGGGATCCCGGGCTTTCAG	0.582																																																	0																																										SO:0001627	intron_variant	0			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.889-117G>A	3.37:g.197639737C>T			Q9BST2|Q9HAG8	RNA	SNP	-	NULL	ENST00000265239.6	37	NULL	CCDS3331.1	3																																																																																			IQCG	-	-	ENSG00000114473		0.582	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	-	0.00	33	0	C	NM_032263		197639737	-1	tier1	-	no_errors	ENST00000485787	ensembl	human	known	74_37	rna	24.24	25	8	SNP	0.000	T
ITGB6	3694	genome.wustl.edu	37	2	160994054	160994054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:160994054G>T	ENST00000283249.2	-	10	1788	c.1551C>A	c.(1549-1551)tgC>tgA	p.C517*	ITGB6_ENST00000428609.2_Nonsense_Mutation_p.C475*|ITGB6_ENST00000409872.1_Nonsense_Mutation_p.C517*|ITGB6_ENST00000409967.2_Nonsense_Mutation_p.C517*	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	517	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCCCACAGTAGCAGTCACCCC	0.562																																																	0													87.0	80.0	82.0					2																	160994054		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1551C>A	2.37:g.160994054G>T	ENSP00000283249:p.Cys517*		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Nonsense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.C517*	ENST00000283249.2	37	c.1551	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.366766	0.98238	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	.	.	.	5.39	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9203	0.47161	0.1455:0.0:0.8545:0.0	.	.	.	.	X	517;475;517;517	.	ENSP00000283249:C517X	C	-	3	2	ITGB6	160702300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.426000	0.52778	1.397000	0.46682	0.655000	0.94253	TGC	ITGB6	-	pirsf_Integrin_bsu,pfam_EGF_extracell	ENSG00000115221		0.562	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1		0.00	47	0	G	NM_000888		160994054	-1			no_errors	ENST00000283249	ensembl	human	known	74_37	nonsense	8.33	33	3	SNP	1.000	T
IVL	3713	genome.wustl.edu	37	1	152882507	152882507	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:152882507G>T	ENST00000368764.3	+	2	298	c.234G>T	c.(232-234)caG>caT	p.Q78H	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	78					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGagcaacagcagaaggagc	0.527																																																	0													52.0	49.0	50.0					1																	152882507		2203	4300	6503	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.234G>T	1.37:g.152882507G>T	ENSP00000357753:p.Gln78His		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q78H	ENST00000368764.3	37	c.234	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729036	0.48833	.	.	ENSG00000163207	ENST00000368764	T	0.15834	2.39	4.35	-1.71	0.08133	.	.	.	.	.	T	0.02455	0.0075	N	0.19112	0.55	0.09310	N	0.999999	B	0.26195	0.144	B	0.20577	0.03	T	0.43048	-0.9415	9	0.48119	T	0.1	-2.8436	2.1747	0.03859	0.2697:0.1307:0.4668:0.1328	.	78	P07476	INVO_HUMAN	H	78	ENSP00000357753:Q78H	ENSP00000357753:Q78H	Q	+	3	2	IVL	151149131	0.007000	0.16637	0.002000	0.10522	0.739000	0.42172	0.316000	0.19469	-0.258000	0.09446	0.313000	0.20887	CAG	IVL	-	NULL	ENSG00000163207		0.527	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1		0.00	58	0	G	NM_005547		152882507	+1			no_errors	ENST00000368764	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.003	T
KANK1	23189	genome.wustl.edu	37	9	730134	730134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:730134G>T	ENST00000382303.1	+	8	3434	c.2782G>T	c.(2782-2784)Gaa>Taa	p.E928*	KANK1_ENST00000382293.3_Nonsense_Mutation_p.E770*|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Nonsense_Mutation_p.E928*	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	928					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCTGAGCAAGAAGTGGGGAC	0.522																																																	0													71.0	61.0	64.0					9																	730134		2203	4300	6503	SO:0001587	stop_gained	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2782G>T	9.37:g.730134G>T	ENSP00000371740:p.Glu928*		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E928*	ENST00000382303.1	37	c.2782	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	45	12.078987	0.99634	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	.	.	.	5.91	5.02	0.67125	.	0.337537	0.25581	N	0.029684	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-12.7557	13.2538	0.60066	0.073:0.0:0.927:0.0	.	.	.	.	X	928;928;928;770	.	ENSP00000346479:E928X	E	+	1	0	KANK1	720134	0.838000	0.29461	0.011000	0.14972	0.145000	0.21501	2.520000	0.45554	1.512000	0.48834	0.655000	0.94253	GAA	KANK1	-	NULL	ENSG00000107104		0.522	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2		0.00	56	0	G	NM_015158		730134	+1			no_errors	ENST00000382297	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.272	T
KAT2B	8850	genome.wustl.edu	37	3	20153126	20153126	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:20153126G>T	ENST00000263754.4	+	6	1345	c.890G>T	c.(889-891)aGt>aTt	p.S297I		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	297					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTCTGCGACAGTCTACCTCGG	0.488																																																	0													155.0	131.0	139.0					3																	20153126		2203	4300	6503	SO:0001583	missense	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.890G>T	3.37:g.20153126G>T	ENSP00000263754:p.Ser297Ile		Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.S297I	ENST00000263754.4	37	c.890	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.399654	0.96030	.	.	ENSG00000114166	ENST00000263754	T	0.31769	1.48	5.7	5.7	0.88788	PCAF, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66256	-0.5969	10	0.87932	D	0	-17.9991	19.8232	0.96605	0.0:0.0:1.0:0.0	.	297	Q92831	KAT2B_HUMAN	I	297	ENSP00000263754:S297I	ENSP00000263754:S297I	S	+	2	0	KAT2B	20128130	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.734000	0.98822	2.684000	0.91462	0.650000	0.86243	AGT	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N	ENSG00000114166		0.488	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	-	0.00	79	0	G	NM_003884		20153126	+1	tier1	-	no_errors	ENST00000263754	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
KCNA3	3738	genome.wustl.edu	37	1	111216790	111216790	+	Silent	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:111216790G>A	ENST00000369769.2	-	1	865	c.642C>T	c.(640-642)cgC>cgT	p.R214R		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.R214R(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GCTGGAAGTCGCGGCGGGGCA	0.687																																																	1	Substitution - coding silent(1)	large_intestine(1)											36.0	44.0	41.0					1																	111216790		2200	4285	6485	SO:0001819	synonymous_variant	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.642C>T	1.37:g.111216790G>A			Q5VWN2	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R214	ENST00000369769.2	37	c.642	CCDS828.2	1																																																																																			KCNA3	-	NULL	ENSG00000177272		0.687	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	-	0.00	66	0	G	NM_002232		111216790	-1	tier1	-	no_errors	ENST00000369769	ensembl	human	known	74_37	silent	43.21	46	35	SNP	0.933	A
KCNJ8	3764	genome.wustl.edu	37	12	21926388	21926388	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:21926388G>C	ENST00000240662.2	-	2	508	c.163C>G	c.(163-165)Cgc>Ggc	p.R55G		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	55					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TGTAGAAAGCGTCCTTGCTCA	0.602											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													153.0	128.0	136.0					12																	21926388		2203	4300	6503	SO:0001583	missense	0			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.163C>G	12.37:g.21926388G>C	ENSP00000240662:p.Arg55Gly	752	O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.R55G	ENST00000240662.2	37	c.163	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288601	0.80914	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.96856	-4.15;-4.15	4.6	3.7	0.42460	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99129	1.0852	10	0.87932	D	0	.	14.1391	0.65308	0.0:0.0:0.8489:0.1511	.	55	Q15842	IRK8_HUMAN	G	55	ENSP00000240662:R55G;ENSP00000440012:R55G	ENSP00000240662:R55G	R	-	1	0	KCNJ8	21817655	1.000000	0.71417	0.904000	0.35570	0.997000	0.91878	4.560000	0.60802	1.135000	0.42183	0.591000	0.81541	CGC	KCNJ8	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir	ENSG00000121361		0.602	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	-	0.00	71	0	G	NM_004982		21926388	-1	tier1	-	no_errors	ENST00000240662	ensembl	human	known	74_37	missense	30.99	48	22	SNP	1.000	C
KIAA1462	57608	genome.wustl.edu	37	10	30336523	30336523	+	Silent	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:30336523G>T	ENST00000375377.1	-	2	320	c.219C>A	c.(217-219)cgC>cgA	p.R73R		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	73					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCGGTGTGCTGCGGCGGCTTT	0.622																																																	0													36.0	41.0	39.0					10																	30336523		1976	4145	6121	SO:0001819	synonymous_variant	0			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.219C>A	10.37:g.30336523G>T			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	NULL	p.R73	ENST00000375377.1	37	c.219	CCDS41500.1	10																																																																																			KIAA1462	-	NULL	ENSG00000165757		0.622	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1		0.00	65	0	G	NM_020848		30336523	-1			no_errors	ENST00000375377	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.000	T
KIAA2022	340533	genome.wustl.edu	37	X	73961054	73961054	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:73961054T>C	ENST00000055682.6	-	3	3949	c.3338A>G	c.(3337-3339)aAg>aGg	p.K1113R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1113					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCAGTCCCACTTGATTTTTTC	0.438																																																	0													78.0	73.0	74.0					X																	73961054		2203	4300	6503	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3338A>G	X.37:g.73961054T>C	ENSP00000055682:p.Lys1113Arg		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.K1113R	ENST00000055682.6	37	c.3338	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646606	0.67358	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.37058	1.22;1.22	5.28	5.28	0.74379	.	0.147314	0.64402	D	0.000010	T	0.47192	0.1432	L	0.29908	0.895	0.50632	D	0.999882	D	0.76494	0.999	D	0.68765	0.96	T	0.49000	-0.8984	10	0.62326	D	0.03	-12.7654	14.3058	0.66384	0.0:0.0:0.0:1.0	.	1113	Q5QGS0	K2022_HUMAN	R	1113	ENSP00000362567:K1113R;ENSP00000055682:K1113R	ENSP00000055682:K1113R	K	-	2	0	KIAA2022	73877779	1.000000	0.71417	0.995000	0.50966	0.810000	0.45777	7.698000	0.84413	1.756000	0.51951	0.486000	0.48141	AAG	KIAA2022	-	NULL	ENSG00000050030		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	-	0.00	73	0	T	NM_001008537		73961054	-1	tier1	-	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	20.24	67	17	SNP	1.000	C
KIF3C	3797	genome.wustl.edu	37	2	26203515	26203515	+	Silent	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:26203515G>T	ENST00000264712.3	-	1	1851	c.1272C>A	c.(1270-1272)ggC>ggA	p.G424G	KIF3C_ENST00000405914.1_Silent_p.G424G	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	424					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATCACTGGGCCCTCAGGGT	0.652																																																	0													63.0	69.0	67.0					2																	26203515		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1272C>A	2.37:g.26203515G>T			O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G424	ENST00000264712.3	37	c.1272	CCDS1719.1	2																																																																																			KIF3C	-	NULL	ENSG00000084731		0.652	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1		0.00	23	0	G			26203515	-1			no_errors	ENST00000264712	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.010	T
KIF1A	547	genome.wustl.edu	37	2	241712609	241712609	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:241712609G>T	ENST00000320389.7	-	13	1260	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M	KIF1A_ENST00000498729.2_Missense_Mutation_p.L368M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	368					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCGCGGATCAGCTTGTTGTTG	0.617																																																	0													88.0	95.0	93.0					2																	241712609		2199	4299	6498	SO:0001583	missense	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1102C>A	2.37:g.241712609G>T	ENSP00000322791:p.Leu368Met		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L368M	ENST00000320389.7	37	c.1102	CCDS46561.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.08|17.08	3.298312|3.298312	0.60195|0.60195	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000428768|ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.|T;T;T	.|0.76709	.|-0.91;-0.96;-1.04	3.83|3.83	2.92|2.92	0.33932|0.33932	.|Kinesin, motor domain (1);	.|0.000000	.|0.64402	.|U	.|0.000004	D|D	0.82857|0.82857	0.5128|0.5128	L|L	0.58925|0.58925	1.835|1.835	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D	.|0.89917	.|1.0;1.0;0.979	.|D;D;P	.|0.91635	.|0.998;0.999;0.712	T|T	0.79543|0.79543	-0.1760|-0.1760	5|10	.|0.22109	.|T	.|0.4	.|.	11.5618|11.5618	0.50780|0.50780	0.0914:0.0:0.9086:0.0|0.0914:0.0:0.9086:0.0	.|.	.|368;368;368	.|F5H045;Q12756-2;Q12756	.|.;.;KIF1A_HUMAN	D|M	175|368	.|ENSP00000322791:L368M;ENSP00000438388:L368M;ENSP00000384231:L368M	.|ENSP00000322791:L368M	A|L	-|-	2|1	0|2	KIF1A|KIF1A	241361282|241361282	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	3.958000|3.958000	0.56737|0.56737	1.688000|1.688000	0.51068|0.51068	0.491000|0.491000	0.48974|0.48974	GCT|CTG	KIF1A	-	NULL	ENSG00000130294		0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	-	0.00	84	0	G	NM_138483		241712609	-1	tier1	-	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T
KIR2DL3	3804	genome.wustl.edu	37	19	55250015	55250015	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:55250015C>T	ENST00000342376.3	+	1	36	c.5C>T	c.(4-6)tCg>tTg	p.S2L	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.S2L|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	2					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		AGCACCATGTCGCTCATGGTC	0.602											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													82.0	93.0	89.0					19																	55250015		1987	3943	5930	SO:0001583	missense	0			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.5C>T	19.37:g.55250015C>T	ENSP00000342215:p.Ser2Leu	1006	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.S2L	ENST00000342376.3	37	c.5	CCDS33107.1	19	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339198	0.24253	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.00493	7.01;7.0	0.109	0.109	0.14578	.	.	.	.	.	T	0.00384	0.0012	L	0.55017	1.72	0.20196	N	0.999929	B;P;B	0.42375	0.013;0.778;0.005	B;B;B	0.26517	0.003;0.07;0.005	T	0.49523	-0.8931	8	0.66056	D	0.02	.	.	.	.	.	2;2;2	E3NZD7;P43628-2;P43628	.;.;KI2L3_HUMAN	L	2	ENSP00000342215:S2L;ENSP00000415758:S2L	ENSP00000342215:S2L	S	+	2	0	KIR2DL3	59941827	0.000000	0.05858	0.102000	0.21198	0.103000	0.19146	-0.418000	0.07080	0.181000	0.19994	0.184000	0.17185	TCG	KIR2DL3	-	NULL	ENSG00000243772		0.602	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	-	0.00	33	0	C			55250015	+1	tier1	-	no_errors	ENST00000434419	ensembl	human	known	74_37	missense	8.33	43	4	SNP	0.978	T
KLHL13	90293	genome.wustl.edu	37	X	117043737	117043737	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:117043737G>A	ENST00000262820.3	-	5	1802	c.893C>T	c.(892-894)aCg>aTg	p.T298M	KLHL13_ENST00000371878.1_Missense_Mutation_p.T247M|KLHL13_ENST00000469946.1_Missense_Mutation_p.T247M|KLHL13_ENST00000540167.1_Missense_Mutation_p.T282M|KLHL13_ENST00000545703.1_Missense_Mutation_p.T256M|KLHL13_ENST00000539496.1_Missense_Mutation_p.T301M|KLHL13_ENST00000371882.1_Missense_Mutation_p.T247M|KLHL13_ENST00000371876.1_Missense_Mutation_p.T247M|KLHL13_ENST00000541812.1_Missense_Mutation_p.T282M	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	298					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAAATCCACCGTTTGCACGTA	0.428													G|||	1	0.000264901	0.0	0.0	3775	,	,		17788	0.0		0.0	False		,,,				2504	0.001																0													118.0	96.0	103.0					X																	117043737		2203	4300	6503	SO:0001583	missense	0			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.893C>T	X.37:g.117043737G>A	ENSP00000262820:p.Thr298Met		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T301M	ENST00000262820.3	37	c.902	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230348	0.58777	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71461	-0.56;-0.56;-0.56;-0.56;-0.48;-0.48;-0.57;-0.57;-0.56;-0.56	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	L	0.32530	0.975	0.80722	D	1	P;D;D;P	0.76494	0.938;0.999;0.999;0.898	B;P;D;B	0.65233	0.325;0.884;0.933;0.174	T	0.79533	-0.1764	10	0.66056	D	0.02	.	17.1659	0.86816	0.0:0.0:1.0:0.0	.	282;301;292;298	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	M	247;247;247;247;282;282;301;298;256;247	ENSP00000360949:T247M;ENSP00000360943:T247M;ENSP00000360945:T247M;ENSP00000412640:T247M;ENSP00000444450:T282M;ENSP00000441029:T282M;ENSP00000443191:T301M;ENSP00000262820:T298M;ENSP00000440707:T256M;ENSP00000419803:T247M	ENSP00000262820:T298M	T	-	2	0	KLHL13	116927765	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	9.657000	0.98554	2.233000	0.73108	0.594000	0.82650	ACG	KLHL13	-	pirsf_Kelch-like_gigaxonin	ENSG00000003096		0.428	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		-	0.00	57	0	G	NM_033495		117043737	-1	tier1	-	no_errors	ENST00000539496	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	A
KLHL17	339451	genome.wustl.edu	37	1	897049	897049	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:897049C>T	ENST00000338591.3	+	3	515	c.408C>T	c.(406-408)caC>caT	p.H136H	NOC2L_ENST00000327044.6_5'Flank|NOC2L_ENST00000487214.1_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	136	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGACGCTGCACGACATCGACC	0.667																																																	0													97.0	90.0	92.0					1																	897049		2200	4298	6498	SO:0001819	synonymous_variant	0			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.408C>T	1.37:g.897049C>T			Q5SV94	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.H136	ENST00000338591.3	37	c.408	CCDS30550.1	1																																																																																			KLHL17	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000187961		0.667	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL17	HGNC	protein_coding	OTTHUMT00000097875.3		0.00	14	0	C	NM_198317		897049	+1			no_errors	ENST00000338591	ensembl	human	known	74_37	silent	28.57	10	4	SNP	0.917	T
KLRG1	10219	genome.wustl.edu	37	12	9142277	9142277	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:9142277A>T	ENST00000266551.4	+	1	61	c.46A>T	c.(46-48)Acc>Tcc	p.T16S	KLRG1_ENST00000356986.3_Missense_Mutation_p.T16S|KLRG1_ENST00000538029.1_Intron|RP11-259O18.4_ENST00000545706.1_RNA	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	16					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GCCTACGGCAACCCAAGCCCA	0.418																																																	0													96.0	92.0	93.0					12																	9142277		2203	4300	6503	SO:0001583	missense	0			AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	6380	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member A"""	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.46A>T	12.37:g.9142277A>T	ENSP00000266551:p.Thr16Ser		B7ZAM2|O43198|O75613	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T16S	ENST00000266551.4	37	c.46		12	.	.	.	.	.	.	.	.	.	.	A	1.669	-0.509447	0.04231	.	.	ENSG00000139187	ENST00000356986;ENST00000266551	T;T	0.01215	5.16;5.27	3.9	-3.47	0.04753	.	1.827130	0.03003	N	0.148411	T	0.00724	0.0024	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.43310	-0.9399	10	0.02654	T	1	4.4921	3.1821	0.06588	0.1601:0.5308:0.1114:0.1977	.	16;16	Q96E93;Q96E93-2	KLRG1_HUMAN;.	S	16	ENSP00000349477:T16S;ENSP00000266551:T16S	ENSP00000266551:T16S	T	+	1	0	KLRG1	9033544	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.995000	0.03712	-0.746000	0.04766	-0.323000	0.08544	ACC	KLRG1	-	NULL	ENSG00000139187		0.418	KLRG1-002	KNOWN	basic	protein_coding	KLRG1	HGNC	protein_coding	OTTHUMT00000399145.1	-	0.00	31	0	A	NM_005810		9142277	+1	tier1	-	no_errors	ENST00000266551	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.000	T
KMT2E	55904	genome.wustl.edu	37	7	104750981	104750981	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:104750981C>G	ENST00000311117.3	+	25	4447	c.3902C>G	c.(3901-3903)tCt>tGt	p.S1301C	KMT2E_ENST00000334877.4_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.S356C|SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1301C	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1301					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TCACCTTCATCTCATTCAAAT	0.453																																																	0													224.0	215.0	218.0					7																	104750981		2203	4300	6503	SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3902C>G	7.37:g.104750981C>G	ENSP00000312379:p.Ser1301Cys		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.S1301C	ENST00000311117.3	37	c.3902	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273541	0.80580	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000351043;ENST00000257745;ENST00000334914	D;D;T	0.92348	-3.02;-3.02;0.72	5.08	4.18	0.49190	.	0.101729	0.44483	N	0.000456	D	0.86037	0.5837	N	0.24115	0.695	0.38850	D	0.956255	B	0.14805	0.011	B	0.09377	0.004	T	0.82898	-0.0229	10	0.56958	D	0.05	.	13.4985	0.61440	0.0:0.702:0.298:0.0	.	1301	Q8IZD2	MLL5_HUMAN	C	1301;1301;1221;1301;356	ENSP00000312379:S1301C;ENSP00000257745:S1301C;ENSP00000333986:S356C	ENSP00000257745:S1301C	S	+	2	0	MLL5	104538217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.442000	0.44873	1.235000	0.43724	0.561000	0.74099	TCT	KMT2E	-	NULL	ENSG00000005483		0.453	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0.00	28	0	C			104750981	+1	tier1	-	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	G
KRT31	3881	genome.wustl.edu	37	17	39551570	39551570	+	Missense_Mutation	SNP	T	T	A	rs202144470		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:39551570T>A	ENST00000251645.2	-	5	855	c.803A>T	c.(802-804)tAc>tTc	p.Y268F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	268	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTCCGCCTGGTAGGACTGCAG	0.592																																																	0													140.0	127.0	131.0					17																	39551570		2203	4300	6503	SO:0001583	missense	0			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.803A>T	17.37:g.39551570T>A	ENSP00000251645:p.Tyr268Phe		Q9UE12	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.Y268F	ENST00000251645.2	37	c.803	CCDS11391.1	17	.	.	.	.	.	.	.	.	.	.	t	13.33	2.204203	0.38905	.	.	ENSG00000094796	ENST00000251645	T	0.76968	-1.06	5.36	-10.7	0.00240	Filament (1);	0.781523	0.11946	N	0.514196	T	0.67277	0.2876	L	0.28556	0.865	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.39840	-0.9594	10	0.72032	D	0.01	.	25.0771	0.99993	0.0:0.8907:0.0:0.1093	.	268	Q15323	K1H1_HUMAN	F	268	ENSP00000251645:Y268F	ENSP00000251645:Y268F	Y	-	2	0	KRT31	36805096	0.000000	0.05858	0.112000	0.21494	0.757000	0.42996	-1.147000	0.03188	-2.552000	0.00479	-0.321000	0.08615	TAC	KRT31	-	pfam_IF,superfamily_Prefoldin	ENSG00000094796		0.592	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1		0.00	118	0	T	NM_002277		39551570	-1			no_errors	ENST00000251645	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.040	A
KRT9	3857	genome.wustl.edu	37	17	39727651	39727651	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:39727651C>T	ENST00000246662.4	-	1	659	c.594G>A	c.(592-594)caG>caA	p.Q198Q	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	198	Linker 1.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AGTAGTTCTTCTGGATAGCAG	0.453																																																	0													160.0	156.0	158.0					17																	39727651		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.594G>A	17.37:g.39727651C>T			O00109|Q0IJ47|Q14665	Silent	SNP	pfam_IF,prints_Keratin_I	p.Q198	ENST00000246662.4	37	c.594	CCDS32654.1	17																																																																																			KRT9	-	pfam_IF	ENSG00000171403		0.453	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	-	0.00	114	0	C	NM_000226		39727651	-1	tier1	-	no_errors	ENST00000246662	ensembl	human	known	74_37	silent	9.68	111	12	SNP	0.000	T
KRTAP5-2	440021	genome.wustl.edu	37	11	1618691	1618691	+	3'UTR	SNP	A	A	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:1618691A>G	ENST00000412090.1	-	0	833				KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2							keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGTGCAGGGAACATCGTGGCA	0.607																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.*256T>C	11.37:g.1618691A>G			A9JTZ1	RNA	SNP	-	NULL	ENST00000412090.1	37	NULL	CCDS31331.1	11																																																																																			KRTAP5-AS1	-	-	ENSG00000233930		0.607	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-AS1	HGNC	protein_coding	OTTHUMT00000384775.1	-	0.00	53	0	A	NM_001004325		1618691	+1	tier1	-	no_errors	ENST00000424148	ensembl	human	known	74_37	rna	14.81	23	4	SNP	0.000	G
LCN15	389812	genome.wustl.edu	37	9	139656665	139656665	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:139656665G>T	ENST00000316144.5	-	5	519	c.495C>A	c.(493-495)gaC>gaA	p.D165E	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	165					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						TGACCATCATGTCCTTGGGGA	0.657																																																	0													19.0	20.0	20.0					9																	139656665		2190	4294	6484	SO:0001583	missense	0				CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.495C>A	9.37:g.139656665G>T	ENSP00000313833:p.Asp165Glu			Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin	p.D165E	ENST00000316144.5	37	c.495	CCDS7006.1	9	.	.	.	.	.	.	.	.	.	.	G	2.220	-0.378594	0.05000	.	.	ENSG00000177984	ENST00000316144	T	0.06768	3.26	4.0	1.05	0.20165	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.320347	0.21806	N	0.068841	T	0.05868	0.0153	L	0.56769	1.78	0.19945	N	0.999945	B	0.29571	0.249	B	0.25405	0.06	T	0.41822	-0.9487	10	0.06365	T	0.9	.	3.4339	0.07438	0.226:0.0:0.5738:0.2001	.	165	Q6UWW0	LCN15_HUMAN	E	165	ENSP00000313833:D165E	ENSP00000313833:D165E	D	-	3	2	LCN15	138776486	0.009000	0.17119	0.004000	0.12327	0.010000	0.07245	0.511000	0.22739	-0.086000	0.12550	-0.140000	0.14226	GAC	LCN15	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_A1-microglobln	ENSG00000177984		0.657	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN15	HGNC	protein_coding	OTTHUMT00000055114.2	-	0.00	95	0	G	NM_203347		139656665	-1	tier1	-	no_errors	ENST00000316144	ensembl	human	known	74_37	missense	6.67	70	5	SNP	0.493	T
LEKR1	389170	genome.wustl.edu	37	3	156570674	156570674	+	5'UTR	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:156570674G>T	ENST00000470811.1	+	0	280				LEKR1_ENST00000483177.1_Nonsense_Mutation_p.G56*|LEKR1_ENST00000356539.4_Nonsense_Mutation_p.G56*|LEKR1_ENST00000489350.1_Intron|LEKR1_ENST00000491763.1_Nonsense_Mutation_p.G56*|LEKR1_ENST00000498839.1_Nonsense_Mutation_p.G56*|LEKR1_ENST00000477399.1_Nonsense_Mutation_p.G56*			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1											breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATTTTATCAAGGAAGTGTAGA	0.338																																																	0													159.0	129.0	138.0					3																	156570674		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.-1056G>T	3.37:g.156570674G>T				Nonsense_Mutation	SNP	superfamily_Ribosomal_L29	p.G56*	ENST00000470811.1	37	c.166		3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445943	0.84101	.	.	ENSG00000197980;ENSG00000197980;ENSG00000197980;ENSG00000178110	ENST00000498839;ENST00000483177;ENST00000477399;ENST00000356539	.	.	.	5.52	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0713	14.3012	0.66355	0.0713:0.0:0.9287:0.0	.	.	.	.	X	56	.	.	G	+	1	0	RP11-6F2.7;LEKR1	158053368	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.328000	0.65887	1.337000	0.45525	0.585000	0.79938	GGA	LEKR1	-	NULL	ENSG00000197980		0.338	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	HGNC	protein_coding	OTTHUMT00000351625.3		0.00	84	0	G	NM_001004316		156570674	+1			no_errors	ENST00000356539	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	T
LGR4	55366	genome.wustl.edu	37	11	27389564	27389564	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:27389564C>A	ENST00000379214.4	-	18	3149	c.2706G>T	c.(2704-2706)caG>caT	p.Q902H	LGR4_ENST00000389858.4_Missense_Mutation_p.Q878H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	902					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGTGGGCCGACTGTGTGCCAC	0.512																																																	0													48.0	53.0	51.0					11																	27389564		2202	4299	6501	SO:0001583	missense	0			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2706G>T	11.37:g.27389564C>A	ENSP00000368516:p.Gln902His		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.Q902H	ENST00000379214.4	37	c.2706	CCDS31449.1	11	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027231	0.54683	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.59083	0.29;0.4	5.67	3.55	0.40652	.	0.314136	0.36591	N	0.002504	T	0.56307	0.1976	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.58172	0.834;0.687	T	0.56757	-0.7926	10	0.56958	D	0.05	.	11.336	0.49505	0.0:0.8522:0.0:0.1478	.	878;902	G5E9B3;Q9BXB1	.;LGR4_HUMAN	H	902;878	ENSP00000368516:Q902H;ENSP00000374508:Q878H	ENSP00000368516:Q902H	Q	-	3	2	LGR4	27346140	1.000000	0.71417	0.915000	0.36163	0.996000	0.88848	0.681000	0.25320	0.532000	0.28657	0.555000	0.69702	CAG	LGR4	-	NULL	ENSG00000205213		0.512	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR4	HGNC	protein_coding	OTTHUMT00000257467.1	-	0.00	40	0	C	NM_018490		27389564	-1	tier1	-	no_errors	ENST00000379214	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	A
TRY2P	207147	genome.wustl.edu	37	7	141970999	141970999	+	RNA	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:141970999G>T	ENST00000334288.5	-	0	404					NR_036483.1																						TCAATACCCAGTCAAGGTGAA	0.453																																																	0																																												0																															7.37:g.141970999G>T				RNA	SNP	-	NULL	ENST00000334288.5	37	NULL		7																																																																																			U66059.29	-	-	ENSG00000186163		0.453	U66059.29-002	KNOWN	basic	processed_transcript	LOC730441	Clone_based_vega_gene	pseudogene	OTTHUMT00000351332.2	-	0.00	76	0	G			141970999	-1	tier1	-	no_errors	ENST00000334288	ensembl	human	known	74_37	rna	10.26	35	4	SNP	0.948	T
LRP12	29967	genome.wustl.edu	37	8	105510194	105510194	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:105510194C>T	ENST00000276654.5	-	5	694	c.586G>A	c.(586-588)Gat>Aat	p.D196N	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.D177N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	196	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATCTCTTCATCGGAACTATCT	0.423																																																	0													189.0	170.0	177.0					8																	105510194		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.586G>A	8.37:g.105510194C>T	ENSP00000276654:p.Asp196Asn		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.D177N	ENST00000276654.5	37	c.529	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702550	0.88924	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.99214	-5.57;-5.57	5.38	5.38	0.77491	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.97758	4.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	D	0.97403	0.9997	10	0.87932	D	0	-25.5047	19.1664	0.93559	0.0:1.0:0.0:0.0	.	177;196	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	N	177;196	ENSP00000399148:D177N;ENSP00000276654:D196N	ENSP00000276654:D196N	D	-	1	0	LRP12	105579370	1.000000	0.71417	0.938000	0.37757	0.895000	0.52256	7.487000	0.81328	2.524000	0.85096	0.563000	0.77884	GAT	LRP12	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	ENSG00000147650		0.423	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1		0.00	64	0	C	NM_013437		105510194	-1			no_errors	ENST00000424843	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
LRRC27	80313	genome.wustl.edu	37	10	134165145	134165145	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:134165145G>A	ENST00000368614.3	+	7	1066	c.961G>A	c.(961-963)Gac>Aac	p.D321N	LRRC27_ENST00000432555.2_Missense_Mutation_p.D194N|LRRC27_ENST00000368615.3_Missense_Mutation_p.D321N|LRRC27_ENST00000392638.2_Silent_p.P352P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000344079.5_Silent_p.P352P|LRRC27_ENST00000368612.1_Missense_Mutation_p.D259N|LRRC27_ENST00000368610.3_Missense_Mutation_p.D259N|LRRC27_ENST00000368613.4_Missense_Mutation_p.D321N	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	321										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CATCTTACCCGACCTCTTGTC	0.498																																																	0													151.0	166.0	161.0					10																	134165145		2203	4300	6503	SO:0001583	missense	0			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.961G>A	10.37:g.134165145G>A	ENSP00000357603:p.Asp321Asn		A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D321N	ENST00000368614.3	37	c.961	CCDS31316.1	10	.	.	.	.	.	.	.	.	.	.	G	7.400	0.632538	0.14322	.	.	ENSG00000148814	ENST00000368615;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T;T;T;T;T;T	0.43688	2.64;2.56;2.56;4.34;4.34;0.94	4.41	0.208	0.15221	.	1.617980	0.03547	N	0.224795	T	0.21761	0.0524	.	.	.	0.09310	N	1	B;B;B;B	0.24963	0.115;0.002;0.002;0.005	B;B;B;B	0.15484	0.013;0.002;0.002;0.002	T	0.10382	-1.0632	9	0.12766	T	0.61	-1.7493	4.5322	0.12011	0.3003:0.1632:0.5365:0.0	.	321;194;259;321	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9	.;.;.;LRC27_HUMAN	N	321;321;321;259;259;194	ENSP00000357604:D321N;ENSP00000357603:D321N;ENSP00000357602:D321N;ENSP00000357601:D259N;ENSP00000357599:D259N;ENSP00000407949:D194N	ENSP00000357599:D259N	D	+	1	0	LRRC27	134015135	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.130000	0.15850	-0.058000	0.13177	-1.134000	0.01955	GAC	LRRC27	-	NULL	ENSG00000148814		0.498	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC27	HGNC	protein_coding	OTTHUMT00000051058.2	-	0.00	60	0	G	XM_290462		134165145	+1	tier1	-	no_errors	ENST00000368613	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.000	A
LRRC31	79782	genome.wustl.edu	37	3	169578432	169578432	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:169578432G>T	ENST00000316428.5	-	3	461	c.404C>A	c.(403-405)aCt>aAt	p.T135N	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.T135N|LRRC31_ENST00000264676.5_Intron	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	135										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CATTTGCTGAGTGATGGAAAG	0.458																																																	0													148.0	139.0	142.0					3																	169578432		1949	4152	6101	SO:0001583	missense	0			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.404C>A	3.37:g.169578432G>T	ENSP00000325978:p.Thr135Asn		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.T135N	ENST00000316428.5	37	c.404	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897468	0.33535	.	.	ENSG00000114248	ENST00000316428;ENST00000523069	T;T	0.61859	0.07;0.07	5.24	3.42	0.39159	.	0.176594	0.49305	D	0.000154	T	0.70413	0.3221	M	0.77313	2.365	0.09310	N	0.999999	D	0.71674	0.998	P	0.62382	0.901	T	0.62053	-0.6935	10	0.30854	T	0.27	-6.2587	11.9035	0.52697	0.147:0.0:0.853:0.0	.	135	Q6UY01	LRC31_HUMAN	N	135	ENSP00000325978:T135N;ENSP00000429145:T135N	ENSP00000325978:T135N	T	-	2	0	LRRC31	171061126	0.503000	0.26115	0.717000	0.30585	0.026000	0.11368	2.145000	0.42207	1.194000	0.43101	0.650000	0.86243	ACT	LRRC31	-	NULL	ENSG00000114248		0.458	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1		0.00	49	0	G	NM_024727		169578432	-1			no_errors	ENST00000316428	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.184	T
LRRN2	10446	genome.wustl.edu	37	1	204587951	204587951	+	Silent	SNP	G	G	A	rs368126022		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:204587951G>A	ENST00000367175.1	-	1	3382	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Silent_p.I390I|LRRN2_ENST00000367176.3_Silent_p.I390I			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	390	LRRCT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATTGCGGCTCGATGAAGCGGA	0.667																																																	0								G	,	0,4406		0,0,2203	57.0	63.0	61.0		1170,1170	0.3	1.0	1		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRRN2	NM_006338.2,NM_201630.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	390/714,390/714	204587951	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1170C>T	1.37:g.204587951G>A			B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I390	ENST00000367175.1	37	c.1170	CCDS1448.1	1																																																																																			LRRN2	-	smart_Cys-rich_flank_reg_C	ENSG00000170382		0.667	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	HGNC	protein_coding	OTTHUMT00000089894.1		0.00	65	0	G	NM_006338		204587951	-1			no_errors	ENST00000367175	ensembl	human	known	74_37	silent	5.00	56	3	SNP	0.990	A
LSM11	134353	genome.wustl.edu	37	5	157182019	157182019	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:157182019G>T	ENST00000286307.5	+	4	886	c.830G>T	c.(829-831)cGt>cTt	p.R277L		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	277					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)	p.R277H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCACACAAGCGTTCCCGCTCT	0.577																																																	1	Substitution - Missense(1)	prostate(1)											70.0	69.0	70.0					5																	157182019		2203	4300	6503	SO:0001583	missense	0			AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.830G>T	5.37:g.157182019G>T	ENSP00000286307:p.Arg277Leu		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.R277L	ENST00000286307.5	37	c.830	CCDS4342.1	5	.	.	.	.	.	.	.	.	.	.	G	12.38	1.922032	0.33908	.	.	ENSG00000155858	ENST00000286307	.	.	.	5.52	2.58	0.30949	Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.565316	0.20520	N	0.090715	T	0.20700	0.0498	N	0.19112	0.55	0.22896	N	0.998592	B	0.32203	0.36	B	0.24848	0.056	T	0.09885	-1.0654	9	0.54805	T	0.06	-0.684	9.1607	0.37021	0.381:0.0:0.619:0.0	.	277	P83369	LSM11_HUMAN	L	277	.	ENSP00000286307:R277L	R	+	2	0	LSM11	157114597	0.760000	0.28428	0.698000	0.30274	0.993000	0.82548	1.300000	0.33436	0.212000	0.20703	0.655000	0.94253	CGT	LSM11	-	superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000155858		0.577	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM11	HGNC	protein_coding	OTTHUMT00000252580.2		0.00	44	0	G	NM_173491		157182019	+1			no_errors	ENST00000286307	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.402	T
LSM3	27258	genome.wustl.edu	37	3	14225460	14225460	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:14225460G>T	ENST00000306024.3	+	3	659	c.156G>T	c.(154-156)atG>atT	p.M52I		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	52					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						ATTTAAATATGATCTTGGGAG	0.294																																																	0													91.0	88.0	89.0					3																	14225460		2203	4299	6502	SO:0001583	missense	0			AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.156G>T	3.37:g.14225460G>T	ENSP00000302160:p.Met52Ile		Q6IAH0|Q9Y4Z1	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.M52I	ENST00000306024.3	37	c.156	CCDS2619.1	3	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460745	0.63513	.	.	ENSG00000170860	ENST00000306024	T	0.38887	1.11	5.45	5.45	0.79879	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.66297	2.02	0.80722	D	1	B	0.23540	0.087	B	0.33690	0.168	T	0.47649	-0.9101	10	0.46703	T	0.11	-9.4345	19.2661	0.93985	0.0:0.0:1.0:0.0	.	52	P62310	LSM3_HUMAN	I	52	ENSP00000302160:M52I	ENSP00000302160:M52I	M	+	3	0	LSM3	14200464	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.844000	0.92147	2.719000	0.93026	0.655000	0.94253	ATG	LSM3	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000170860		0.294	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM3	HGNC	protein_coding	OTTHUMT00000252078.3	-	0.00	79	0	G	NM_014463		14225460	+1	tier1	-	no_errors	ENST00000306024	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
LTBR	4055	genome.wustl.edu	37	12	6499472	6499472	+	Silent	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:6499472G>A	ENST00000228918.4	+	9	1322	c.996G>A	c.(994-996)caG>caA	p.Q332Q	LTBR_ENST00000541102.1_Silent_p.Q189Q|LTBR_ENST00000539925.1_Silent_p.Q313Q	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	332					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GGGAGCCGCAGTTGGAACCCG	0.657																																																	0													24.0	25.0	24.0					12																	6499472		2203	4298	6501	SO:0001819	synonymous_variant	0			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.996G>A	12.37:g.6499472G>A			B7Z1D2|D3DUR2|F5GXE7	Silent	SNP	pirsf_TNFR_3_LTBR,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg	p.Q332	ENST00000228918.4	37	c.996	CCDS8544.1	12																																																																																			LTBR	-	pirsf_TNFR_3_LTBR	ENSG00000111321		0.657	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBR	HGNC	protein_coding	OTTHUMT00000399422.1	-	0.00	82	0	G			6499472	+1	tier1	-	no_errors	ENST00000228918	ensembl	human	known	74_37	silent	13.19	79	12	SNP	0.000	A
MAGEB2	4113	genome.wustl.edu	37	X	30237369	30237369	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:30237369G>T	ENST00000378988.4	+	2	773	c.672G>T	c.(670-672)tgG>tgT	p.W224C		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	224	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AAGAGATCTGGGAATTCCTGA	0.488																																																	0													70.0	61.0	64.0					X																	30237369		2202	4300	6502	SO:0001583	missense	0			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.672G>T	X.37:g.30237369G>T	ENSP00000368273:p.Trp224Cys		O75860	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.W224C	ENST00000378988.4	37	c.672	CCDS14219.1	X	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482877	0.63962	.	.	ENSG00000099399	ENST00000378988	T	0.05925	3.37	3.27	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	H	0.97659	4.05	0.36048	D	0.840551	D	0.89917	1.0	D	0.97110	1.0	T	0.57568	-0.7789	10	0.87932	D	0	.	9.2222	0.37384	0.0:0.0:1.0:0.0	.	224	O15479	MAGB2_HUMAN	C	224	ENSP00000368273:W224C	ENSP00000368273:W224C	W	+	3	0	MAGEB2	30147290	1.000000	0.71417	0.383000	0.26132	0.903000	0.53119	3.923000	0.56469	1.914000	0.55421	0.436000	0.28706	TGG	MAGEB2	-	pfam_MAGE,pfscan_MAGE	ENSG00000099399		0.488	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB2	HGNC	protein_coding	OTTHUMT00000056157.1	-	0.00	58	0	G	NM_002364		30237369	+1	tier1	-	no_errors	ENST00000378988	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.358	T
MAP2K1	5604	genome.wustl.edu	37	15	66779570	66779570	+	Silent	SNP	C	C	T	rs147333830		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:66779570C>T	ENST00000307102.5	+	8	1431	c.900C>T	c.(898-900)taC>taT	p.Y300Y	MAP2K1_ENST00000566326.1_Silent_p.Y124Y|CTD-3185P2.2_ENST00000602360.1_RNA|CTD-3185P2.1_ENST00000565387.1_RNA	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	300	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|RAF1-binding. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TTGTAGCATACGGAATGGACA	0.413																																																	0								C		2,4400	4.2+/-10.8	0,2,2199	112.0	106.0	108.0		900	1.0	1.0	15	dbSNP_134	108	0,8598		0,0,4299	no	coding-synonymous	MAP2K1	NM_002755.3		0,2,6498	TT,TC,CC		0.0,0.0454,0.0154		300/394	66779570	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	0			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.900C>T	15.37:g.66779570C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y300	ENST00000307102.5	37	c.900	CCDS10216.1	15																																																																																			MAP2K1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000169032		0.413	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	-	0.00	49	0	C			66779570	+1	tier1	rs147333830	no_errors	ENST00000307102	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.996	T
MAPK10	5602	genome.wustl.edu	37	4	86950424	86950424	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:86950424A>C	ENST00000359221.3	-	13	1704	c.1178T>G	c.(1177-1179)cTt>cGt	p.L393R	MAPK10_ENST00000449047.2_Missense_Mutation_p.L248R|MAPK10_ENST00000395161.2_Missense_Mutation_p.L393R|MAPK10_ENST00000395160.3_Missense_Mutation_p.L248R|MAPK10_ENST00000395169.3_Missense_Mutation_p.L355R|MAPK10_ENST00000395157.3_Missense_Mutation_p.L248R|MAPK10_ENST00000395166.1_Missense_Mutation_p.L355R|MAPK10_ENST00000361569.2_Missense_Mutation_p.L393R			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	393					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTTGTAGATAAGTTCTGTAAG	0.343																																																	0													164.0	156.0	158.0					4																	86950424		2203	4300	6503	SO:0001583	missense	0			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1178T>G	4.37:g.86950424A>C	ENSP00000352157:p.Leu393Arg		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom	p.L393R	ENST00000359221.3	37	c.1178	CCDS34026.1	4	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162416	0.78226	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.96	5.96	0.96718	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.83223	2.63	0.80722	D	1	B;B;B;B;B	0.34399	0.224;0.452;0.049;0.049;0.079	B;B;B;B;B	0.39590	0.126;0.304;0.047;0.047;0.117	T	0.58487	-0.7628	10	0.56958	D	0.05	-14.1366	16.0984	0.81148	1.0:0.0:0.0:0.0	.	279;248;355;393;393	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.;.;.;.;MK10_HUMAN	R	355;393;248;393;355;248;248;393	ENSP00000378598:L355R;ENSP00000352157:L393R;ENSP00000378586:L248R;ENSP00000355297:L393R;ENSP00000378595:L355R;ENSP00000378589:L248R;ENSP00000414469:L248R;ENSP00000378590:L393R	ENSP00000352157:L393R	L	-	2	0	MAPK10	87169448	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.053000	0.89449	2.278000	0.76064	0.533000	0.62120	CTT	MAPK10	-	superfamily_Kinase-like_dom	ENSG00000109339		0.343	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	HGNC	protein_coding	OTTHUMT00000361363.2	-	0.00	40	0	A			86950424	-1	tier1	-	no_errors	ENST00000359221	ensembl	human	known	74_37	missense	39.22	31	20	SNP	1.000	C
MARK3	4140	genome.wustl.edu	37	14	103932743	103932743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:103932743G>T	ENST00000429436.2	+	10	1471	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	MARK3_ENST00000553942.1_Nonsense_Mutation_p.E321*|MARK3_ENST00000303622.9_Nonsense_Mutation_p.E321*|MARK3_ENST00000335102.5_Nonsense_Mutation_p.E344*|MARK3_ENST00000216288.7_Nonsense_Mutation_p.E321*|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Nonsense_Mutation_p.E344*|MARK3_ENST00000440884.3_Nonsense_Mutation_p.E242*	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	321						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ACCATTTGTTGAACCAGAGCT	0.373																																																	0													106.0	95.0	99.0					14																	103932743		1910	4132	6042	SO:0001587	stop_gained	0			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.961G>T	14.37:g.103932743G>T	ENSP00000411397:p.Glu321*		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E321*	ENST00000429436.2	37	c.961	CCDS45165.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.439850|10.439850	0.99405|0.99405	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942|ENST00000554627	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79793	.|0.4507	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77816	.|-0.2447	.|3	0.66056|.	D|.	0.02|.	.|.	19.8215|19.8215	0.96599|0.96599	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	344;242;344;321;321;321;321|88	.|.	ENSP00000216288:E321X|.	E|L	+|+	1|3	0|2	MARK3|MARK3	103002496|103002496	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.872000|0.872000	0.50106|0.50106	9.591000|9.591000	0.98241|0.98241	2.679000|2.679000	0.91253|0.91253	0.650000|0.650000	0.86243|0.86243	GAA|TTG	MARK3	-	superfamily_Kinase-like_dom	ENSG00000075413		0.373	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	HGNC	protein_coding	OTTHUMT00000415144.1	-	0.00	43	0	G	NM_001128918		103932743	+1	tier1	-	no_errors	ENST00000429436	ensembl	human	known	74_37	nonsense	21.88	25	7	SNP	1.000	T
MARVELD2	153562	genome.wustl.edu	37	5	68737386	68737386	+	Missense_Mutation	SNP	C	C	T	rs533462435		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:68737386C>T	ENST00000325631.5	+	7	1656	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	MARVELD2_ENST00000413223.2_Missense_Mutation_p.R412C	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	528					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AAAAAAAGAACGCTGTGATTA	0.318													C|||	1	0.000199681	0.0	0.0	5008	,	,		15896	0.001		0.0	False		,,,				2504	0.0																0													46.0	49.0	48.0					5																	68737386		2196	4297	6493	SO:0001583	missense	0			AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1582C>T	5.37:g.68737386C>T	ENSP00000323264:p.Arg528Cys		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel	p.R528C	ENST00000325631.5	37	c.1582	CCDS34175.1	5	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725599	0.68959	.	.	ENSG00000152939	ENST00000325631;ENST00000454295;ENST00000436532;ENST00000413223	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.58	5.58	0.84498	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.046704	0.85682	N	0.000000	T	0.64427	0.2597	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.72730	-0.4205	10	0.87932	D	0	-5.0793	13.9293	0.63983	0.1527:0.8472:0.0:0.0	.	516;528	Q8N4S9-3;Q8N4S9	.;MALD2_HUMAN	C	528;516;412;412	ENSP00000323264:R528C;ENSP00000396244:R516C;ENSP00000414776:R412C;ENSP00000398922:R412C	ENSP00000323264:R528C	R	+	1	0	MARVELD2	68773142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.658000	0.46733	2.640000	0.89533	0.563000	0.77884	CGC	MARVELD2	-	pfam_Occludin_RNApol2_elong_fac_ELL	ENSG00000152939		0.318	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD2	HGNC	protein_coding	OTTHUMT00000369583.1	-	0.00	95	0	C	NM_144724		68737386	+1	tier1	-	no_errors	ENST00000325631	ensembl	human	known	74_37	missense	17.81	60	13	SNP	1.000	T
MB21D2	151963	genome.wustl.edu	37	3	192516538	192516538	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:192516538G>T	ENST00000392452.2	-	2	1433	c.1113C>A	c.(1111-1113)aaC>aaA	p.N371K		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	371							protein complex binding (GO:0032403)	p.N369K(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GGCACATCTTGTTGACCAGAC	0.532																																																	1	Substitution - Missense(1)	lung(1)											79.0	63.0	68.0					3																	192516538		2203	4300	6503	SO:0001583	missense	0			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1113C>A	3.37:g.192516538G>T	ENSP00000376246:p.Asn371Lys		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.N371K	ENST00000392452.2	37	c.1113	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910270	0.33721	.	.	ENSG00000180611	ENST00000392452	T	0.07216	3.21	5.28	5.28	0.74379	.	0.104731	0.64402	D	0.000002	T	0.09291	0.0229	L	0.50333	1.59	0.80722	D	1	B	0.25772	0.134	B	0.23419	0.046	T	0.07809	-1.0753	10	0.05436	T	0.98	.	17.9275	0.88988	0.0:0.0:1.0:0.0	.	371	Q8IYB1	M21D2_HUMAN	K	371	ENSP00000376246:N371K	ENSP00000376246:N371K	N	-	3	2	MB21D2	193999232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.072000	0.57563	2.455000	0.83008	0.655000	0.94253	AAC	MB21D2	-	pfam_Mab-21_dom	ENSG00000180611		0.532	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1		0.00	31	0	G	NM_178496		192516538	-1			no_errors	ENST00000392452	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
MICAL3	57553	genome.wustl.edu	37	22	18293531	18293531	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr22:18293531C>T	ENST00000441493.2	-	28	5846	c.5494G>A	c.(5494-5496)Gtg>Atg	p.V1832M	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1832					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCCTTTTGCACACGCCGGGTC	0.582																																																	0													94.0	99.0	97.0					22																	18293531		2184	4280	6464	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5494G>A	22.37:g.18293531C>T	ENSP00000416015:p.Val1832Met		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.V1832M	ENST00000441493.2	37	c.5494	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888497	0.52014	.	.	ENSG00000093100	ENST00000441493	T	0.66460	-0.21	4.81	4.81	0.61882	.	0.228496	0.34879	N	0.003616	T	0.74114	0.3674	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.74287	-0.3714	10	0.39692	T	0.17	.	17.8904	0.88870	0.0:1.0:0.0:0.0	.	1832	Q7RTP6	MICA3_HUMAN	M	1832	ENSP00000416015:V1832M	ENSP00000416015:V1832M	V	-	1	0	XXbac-B461K10.4	16673531	1.000000	0.71417	0.988000	0.46212	0.944000	0.59088	7.818000	0.86416	2.215000	0.71742	0.462000	0.41574	GTG	MICAL3	-	NULL	ENSG00000243156		0.582	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0.00	45	0	C			18293531	-1	tier1	-	no_errors	ENST00000441493	ensembl	human	known	74_37	missense	8.33	43	4	SNP	1.000	T
MID2	11043	genome.wustl.edu	37	X	107170088	107170088	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:107170088C>A	ENST00000262843.6	+	10	2541	c.1993C>A	c.(1993-1995)Ctg>Atg	p.L665M	MID2_ENST00000443968.2_Missense_Mutation_p.L635M|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	665	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CAACAATATGCTGTCTTTCTA	0.443																																																	0													213.0	155.0	175.0					X																	107170088		2203	4300	6503	SO:0001583	missense	0				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1993C>A	X.37:g.107170088C>A	ENSP00000262843:p.Leu665Met		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L665M	ENST00000262843.6	37	c.1993	CCDS14532.2	X	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908617	0.52439	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.71579	-0.58;-0.58	5.37	2.66	0.31614	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000001	D	0.83280	0.5220	M	0.91249	3.19	0.49687	D	0.999812	D;P	0.57257	0.979;0.954	D;P	0.63283	0.913;0.851	T	0.82831	-0.0263	10	0.87932	D	0	.	7.7471	0.28875	0.0:0.7166:0.0:0.2834	.	665;635	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	M	665;635	ENSP00000262843:L665M;ENSP00000413976:L635M	ENSP00000262843:L665M	L	+	1	2	MID2	107056744	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.842000	0.48230	0.486000	0.27676	0.596000	0.82720	CTG	MID2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000080561		0.443	MID2-001	KNOWN	basic|CCDS	protein_coding	MID2	HGNC	protein_coding	OTTHUMT00000057852.2	-	0.00	97	0	C	NM_012216		107170088	+1	tier1	-	no_errors	ENST00000262843	ensembl	human	known	74_37	missense	23.53	65	20	SNP	1.000	A
MIER2	54531	genome.wustl.edu	37	19	327958	327958	+	Missense_Mutation	SNP	G	G	A	rs140470504		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:327958G>A	ENST00000264819.4	-	4	285	c.275C>T	c.(274-276)gCg>gTg	p.A92V	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GCCATAGAGCGCAAGCAGCTC	0.592																																																	0								G	VAL/ALA	0,4406		0,0,2203	96.0	74.0	82.0		275	5.0	0.2	19	dbSNP_134	82	2,8598		0,2,4298	no	missense	MIER2	NM_017550.1	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	92/546	327958	2,13004	2203	4300	6503	SO:0001583	missense	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.275C>T	19.37:g.327958G>A	ENSP00000264819:p.Ala92Val		Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.A92V	ENST00000264819.4	37	c.275	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	.	27.6	4.848274	0.91277	0.0	2.33E-4	ENSG00000105556	ENST00000264819	T	0.26373	1.74	5.01	5.01	0.66863	.	0.000000	0.46442	D	0.000297	T	0.51635	0.1686	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55036	-0.8203	10	0.62326	D	0.03	-19.341	15.4975	0.75666	0.0:0.0:1.0:0.0	.	92	Q8N344	MIER2_HUMAN	V	92	ENSP00000264819:A92V	ENSP00000264819:A92V	A	-	2	0	MIER2	278958	1.000000	0.71417	0.225000	0.23894	0.808000	0.45660	8.337000	0.90036	2.328000	0.79073	0.563000	0.77884	GCG	MIER2	-	NULL	ENSG00000105556		0.592	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	-	0.00	66	0	G	XM_041843		327958	-1	tier1	rs140470504	no_errors	ENST00000264819	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.992	A
MORC2	22880	genome.wustl.edu	37	22	31321466	31321466	+	3'UTR	SNP	A	A	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr22:31321466A>G	ENST00000397641.3	-	0	4831				MORC2-AS1_ENST00000422995.2_RNA|MORC2-AS1_ENST00000609557.1_RNA|MORC2-AS1_ENST00000432624.2_RNA|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2							cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TTCCCATTCCAGTGTGGCCTG	0.547																																																	0													84.0	76.0	78.0					22																	31321466		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.*1324T>C	22.37:g.31321466A>G			B2RNB1|Q9UF28|Q9Y6V2	RNA	SNP	-	NULL	ENST00000397641.3	37	NULL		22																																																																																			MORC2-AS1	-	-	ENSG00000235989		0.547	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2-AS1	HGNC	protein_coding	OTTHUMT00000321710.2		0.00	94	0	A	NM_014941		31321466	+1			no_errors	ENST00000422995	ensembl	human	known	74_37	rna	6.25	60	4	SNP	0.000	G
MPHOSPH8	54737	genome.wustl.edu	37	13	20244445	20244445	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:20244445G>A	ENST00000361479.5	+	12	2467	c.2399G>A	c.(2398-2400)gGa>gAa	p.G800E	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.G800E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	800					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CGGCTCTGTGGACCGTGTAGT	0.393																																																	0													212.0	192.0	199.0					13																	20244445		2203	4300	6503	SO:0001583	missense	0			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.2399G>A	13.37:g.20244445G>A	ENSP00000355388:p.Gly800Glu		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.G800E	ENST00000361479.5	37	c.2399	CCDS9287.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.943041|4.943041	0.92526|0.92526	.|.	.|.	ENSG00000196199|ENSG00000196199	ENST00000449056|ENST00000414242;ENST00000360754;ENST00000361479	.|T;T	.|0.80033	.|-1.33;0.01	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85102|0.85102	0.5620|0.5620	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.86760|0.86760	0.1966|0.1966	5|10	.|0.87932	.|D	.|0	.|.	19.746|19.746	0.96252|0.96252	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|800;800	.|Q99549;Q99549-2	.|MPP8_HUMAN;.	N|E	71|800;129;800	.|ENSP00000414663:G800E;ENSP00000355388:G800E	.|ENSP00000353982:G129E	D|G	+|+	1|2	0|0	MPHOSPH8|MPHOSPH8	19142445|19142445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.907000|8.907000	0.92634|0.92634	2.645000|2.645000	0.89757|0.89757	0.650000|0.650000	0.86243|0.86243	GAC|GGA	MPHOSPH8	-	NULL	ENSG00000196199		0.393	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	-	0.00	60	0	G	NM_017520		20244445	+1	tier1	-	no_errors	ENST00000414242	ensembl	human	known	74_37	missense	31.11	93	42	SNP	1.000	A
MROH9	80133	genome.wustl.edu	37	1	170958995	170958995	+	Splice_Site	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:170958995G>T	ENST00000367758.3	+	11	978		c.e11-1		MROH9_ENST00000367759.4_Splice_Site	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9																		TTCTCTTCCAGGTGTCTAAGA	0.388																																																	0													180.0	166.0	170.0					1																	170958995		1856	4102	5958	SO:0001630	splice_region_variant	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.880-1G>T	1.37:g.170958995G>T			A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Splice_Site	SNP	-	e10-1	ENST00000367758.3	37	c.880-1	CCDS41436.1	1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969803	0.53614	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4383	0.67298	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf129	169225619	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.489000	0.60309	2.473000	0.83533	0.467000	0.42956	.	MROH9	-	-	ENSG00000117501		0.388	MROH9-001	KNOWN	basic|CCDS	protein_coding	MROH9	HGNC	protein_coding	OTTHUMT00000099327.1		0.00	68	0	G	NM_025063	Intron	170958995	+1			no_errors	ENST00000367759	ensembl	human	known	74_37	splice_site	5.00	76	4	SNP	1.000	T
MSANTD2	79684	genome.wustl.edu	37	11	124670237	124670237	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:124670237G>A	ENST00000374979.3	-	1	48	c.40C>T	c.(40-42)Ccg>Tcg	p.P14S	MSANTD2_ENST00000239614.4_Missense_Mutation_p.P14S|RP11-677M14.7_ENST00000499143.2_RNA|RP11-677M14.7_ENST00000529392.1_RNA|MSANTD2_ENST00000524950.1_Missense_Mutation_p.P14S			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	14																	ATTTTTAGCGGCGAGTTGGCG	0.687																																																	0													9.0	12.0	11.0					11																	124670237		2142	4186	6328	SO:0001583	missense	0			AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.40C>T	11.37:g.124670237G>A	ENSP00000364118:p.Pro14Ser		B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	NULL	p.P14S	ENST00000374979.3	37	c.40		11	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480531	0.44044	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000524950	.	.	.	4.88	3.94	0.45596	.	0.168866	0.39083	N	0.001467	T	0.31606	0.0802	L	0.36672	1.1	0.36646	D	0.877141	P;B	0.37781	0.608;0.001	B;B	0.32289	0.143;0.003	T	0.33292	-0.9874	9	0.46703	T	0.11	-7.9739	6.6758	0.23093	0.0967:0.1835:0.7198:0.0	.	14;14	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	S	14	.	ENSP00000239614:P14S	P	-	1	0	C11orf61	124175447	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.719000	0.47244	1.007000	0.39238	0.563000	0.77884	CCG	MSANTD2	-	NULL	ENSG00000120458		0.687	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	MSANTD2	HGNC	protein_coding	OTTHUMT00000387084.1	-	0.00	71	0	G	NM_024631		124670237	-1	tier1	-	no_errors	ENST00000374979	ensembl	human	known	74_37	missense	10.26	34	4	SNP	1.000	A
MSN	4478	genome.wustl.edu	37	X	64958409	64958409	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:64958409C>G	ENST00000360270.5	+	11	1446	c.1274C>G	c.(1273-1275)aCa>aGa	p.T425R		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	425					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						GCAGAGCTGACAGCTCGAATC	0.557			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													57.0	50.0	52.0					X																	64958409		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.1274C>G	X.37:g.64958409C>G	ENSP00000353408:p.Thr425Arg			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.T425R	ENST00000360270.5	37	c.1274	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	c	17.33	3.362093	0.61403	.	.	ENSG00000147065	ENST00000360270	D	0.83419	-1.72	4.67	4.67	0.58626	Ezrin/radixin/moesin, C-terminal (1);	0.183995	0.56097	D	0.000022	D	0.82614	0.5075	M	0.73598	2.24	0.80722	D	1	B	0.12013	0.005	B	0.18561	0.022	T	0.79969	-0.1579	10	0.38643	T	0.18	.	15.4828	0.75542	0.0:1.0:0.0:0.0	.	425	P26038	MOES_HUMAN	R	425	ENSP00000353408:T425R	ENSP00000353408:T425R	T	+	2	0	MSN	64875134	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.564000	0.82326	2.306000	0.77630	0.591000	0.81541	ACA	MSN	-	pirsf_ERM,pfam_ERM_C_dom	ENSG00000147065		0.557	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	-	0.00	85	0	C	NM_002444		64958409	+1	tier1	-	no_errors	ENST00000360270	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	G
MT-ND2	4536	genome.wustl.edu	37	M	1526	1526	+	5'Flank	SNP	T	T	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrM:1526T>C	ENST00000361453.3	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|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 I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						AGGACATTTAACTAAAACCCC	0.453																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1526T>C	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MT-RNR1	-	-	ENSG00000211459		0.453	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR1	HGNC	protein_coding		-	0.00	31	0	T	YP_003024027		1526	+1	tier1	-	no_errors	ENST00000389680	ensembl	human	known	74_37	rna	25.00	6	2	SNP	NULL	C
MYOF	26509	genome.wustl.edu	37	10	95191212	95191212	+	Missense_Mutation	SNP	G	G	T	rs369425898		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:95191212G>T	ENST00000359263.4	-	4	297	c.298C>A	c.(298-300)Ccg>Acg	p.P100T	MYOF_ENST00000371501.4_Missense_Mutation_p.P100T|MYOF_ENST00000371489.1_Missense_Mutation_p.P100T|MYOF_ENST00000371488.3_Missense_Mutation_p.P100T|MYOF_ENST00000371502.4_Missense_Mutation_p.P100T|MYOF_ENST00000358334.5_Missense_Mutation_p.P100T	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	100					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)	p.P100S(1)		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						AGCTTGTACGGCAGGGATCTG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											92.0	88.0	90.0					10																	95191212		1953	4164	6117	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.298C>A	10.37:g.95191212G>T	ENSP00000352208:p.Pro100Thr		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.P100T	ENST00000359263.4	37	c.298	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432022	0.43122	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489;ENST00000371488	D;D;D;D;T;T	0.82167	-1.58;-1.58;-1.58;-1.58;-1.32;0.26	5.73	5.73	0.89815	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.108688	0.64402	D	0.000004	D	0.86698	0.5995	L	0.58669	1.825	0.58432	D	0.99999	D;B;D	0.59357	0.985;0.23;0.959	D;B;P	0.64144	0.922;0.403;0.682	T	0.81072	-0.1098	10	0.02654	T	1	-12.7285	17.1927	0.86885	0.0:0.0:1.0:0.0	.	82;100;100	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	T	100	ENSP00000351094:P100T;ENSP00000352208:P100T;ENSP00000360556:P100T;ENSP00000360557:P100T;ENSP00000360544:P100T;ENSP00000360543:P100T	ENSP00000351094:P100T	P	-	1	0	MYOF	95181202	1.000000	0.71417	0.996000	0.52242	0.313000	0.28021	5.541000	0.67212	2.868000	0.98415	0.557000	0.71058	CCG	MYOF	-	superfamily_C2_dom,smart_C2_dom	ENSG00000138119		0.473	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2		0.00	55	0	G	NM_013451		95191212	-1			no_errors	ENST00000359263	ensembl	human	known	74_37	missense	5.13	73	4	SNP	1.000	T
NDUFAF6	137682	genome.wustl.edu	37	8	96047735	96047736	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:96047735_96047736insA	ENST00000396124.4	+	3	374_375	c.351_352insA	c.(352-354)aaafs	p.K118fs	NDUFAF6_ENST00000396111.2_Frame_Shift_Ins_p.K26fs|NDUFAF6_ENST00000542894.1_Frame_Shift_Ins_p.K66fs|NDUFAF6_ENST00000396113.1_Frame_Shift_Ins_p.K26fs|NDUFAF6_ENST00000286687.4_5'UTR	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	118					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										TGCAGTTTTGGAAAAAAACTGT	0.347																																																	0																																										SO:0001589	frameshift_variant	0			BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.358dupA	8.37:g.96047742_96047742dupA	ENSP00000379430:p.Lys118fs		A8MT28|A8MWF0|B4DQ45|Q8N6U6	Frame_Shift_Ins	INS	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth	p.T119fs	ENST00000396124.4	37	c.351_352	CCDS6266.2	8																																																																																			NDUFAF6	-	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth	ENSG00000156170		0.347	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF6	HGNC	protein_coding	OTTHUMT00000316700.2		0.00	150	0	-	NM_152416		96047736	+1	tier1		no_errors	ENST00000396124	ensembl	human	known	74_37	frame_shift_ins	25.00	72	24	INS	1.000:1.000	A
NELL1	4745	genome.wustl.edu	37	11	21596747	21596747	+	3'UTR	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:21596747C>T	ENST00000357134.5	+	0	2764				NELL1_ENST00000298925.5_3'UTR|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCACTTTGCTCATTCTTGCTA	0.398																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.*179C>T	11.37:g.21596747C>T			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	RNA	SNP	-	NULL	ENST00000357134.5	37	NULL	CCDS7855.1	11																																																																																			NELL1	-	-	ENSG00000165973		0.398	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0.00	120	0	C	NM_006157		21596747	+1	tier1	-	no_errors	ENST00000529218	ensembl	human	known	74_37	rna	5.75	82	5	SNP	1.000	T
NETO1	81832	genome.wustl.edu	37	18	70417471	70417471	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr18:70417471G>T	ENST00000327305.6	-	9	2024	c.1367C>A	c.(1366-1368)aCa>aAa	p.T456K	NETO1_ENST00000299430.2_Missense_Mutation_p.T455K|NETO1_ENST00000583169.1_Missense_Mutation_p.T456K|RNA5SP460_ENST00000516789.1_RNA	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	456					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GGGCATCTCTGTCAAGATAGA	0.488																																																	0													198.0	176.0	184.0					18																	70417471		2203	4300	6503	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1367C>A	18.37:g.70417471G>T	ENSP00000313088:p.Thr456Lys		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.T456K	ENST00000327305.6	37	c.1367	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555085	0.65425	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.20881	2.04;2.04	5.76	5.76	0.90799	.	0.451006	0.20630	N	0.088609	T	0.24812	0.0602	L	0.44542	1.39	0.80722	D	1	B;B	0.20052	0.02;0.041	B;B	0.21708	0.036;0.031	T	0.02190	-1.1198	10	0.49607	T	0.09	-5.2135	19.973	0.97292	0.0:0.0:1.0:0.0	.	455;456	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	456;455	ENSP00000313088:T456K;ENSP00000299430:T455K	ENSP00000299430:T455K	T	-	2	0	NETO1	68568451	1.000000	0.71417	0.083000	0.20561	0.979000	0.70002	9.183000	0.94887	2.725000	0.93324	0.460000	0.39030	ACA	NETO1	-	NULL	ENSG00000166342		0.488	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0.00	50	0	G	NM_138999		70417471	-1	tier1	-	no_errors	ENST00000327305	ensembl	human	known	74_37	missense	39.29	51	33	SNP	0.997	T
NF2	4771	genome.wustl.edu	37	22	30038263	30038263	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr22:30038263G>T	ENST00000338641.4	+	4	877	c.436G>T	c.(436-438)Gtc>Ttc	p.V146F	NF2_ENST00000403999.3_Missense_Mutation_p.V146F|NF2_ENST00000361676.4_Missense_Mutation_p.V104F|NF2_ENST00000403435.1_Missense_Mutation_p.V146F|NF2_ENST00000334961.7_Missense_Mutation_p.V63F|NF2_ENST00000361166.4_Missense_Mutation_p.V146F|NF2_ENST00000353887.4_Missense_Mutation_p.V63F|NF2_ENST00000397789.3_Missense_Mutation_p.V146F|NF2_ENST00000347330.5_Missense_Mutation_p.V63F|NF2_ENST00000413209.2_Missense_Mutation_p.V146F|NF2_ENST00000361452.4_Missense_Mutation_p.V105F	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	146	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.V146I(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTTACGCCGTCCAGGCCAA	0.448			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	10	Deletion - In frame(5)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(1)	soft_tissue(7)|meninges(1)|large_intestine(1)|stomach(1)											72.0	70.0	71.0					22																	30038263		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.436G>T	22.37:g.30038263G>T	ENSP00000344666:p.Val146Phe		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	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,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin	p.V146F	ENST00000338641.4	37	c.436	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910151	0.72983	.	.	ENSG00000186575	ENST00000413209;ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	T;D;T;T;T;T;T;T;T;T;T	0.94376	-1.13;-3.41;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.24	4.22	0.49857	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	M	0.90759	3.145	0.39144	D	0.962105	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.996;0.997;0.999;0.999;0.998;0.999;0.998	D	0.98270	1.0503	9	.	.	.	.	13.9963	0.64405	0.0735:0.0:0.9265:0.0	.	146;105;146;146;104;63;146	P35240-9;P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;.;MERL_HUMAN;.;.;.;.	F	146;63;146;146;105;146;146;63;63;146;104;146	ENSP00000409921:V146F;ENSP00000335160:V63F;ENSP00000344666:V146F;ENSP00000384029:V146F;ENSP00000354897:V105F;ENSP00000384797:V146F;ENSP00000335652:V63F;ENSP00000340626:V63F;ENSP00000380891:V146F;ENSP00000355183:V104F;ENSP00000354529:V146F	.	V	+	1	0	NF2	28368263	1.000000	0.71417	0.984000	0.44739	0.960000	0.62799	9.777000	0.99008	1.213000	0.43380	0.655000	0.94253	GTC	NF2	-	pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam	ENSG00000186575		0.448	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3		0.00	40	0	G	NM_000268		30038263	+1			no_errors	ENST00000338641	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
NKPD1	284353	genome.wustl.edu	37	19	45655400	45655400	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:45655400C>T	ENST00000438936.2	-	3	1840	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	NKPD1_ENST00000429338.1_Intron|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Silent_p.P543P|NKPD1_ENST00000317951.4_Silent_p.P765P			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	543						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GCGGGCTGGGCGGCTTGAGCG	0.741																																																	0													6.0	10.0	9.0					19																	45655400		1934	4065	5999	SO:0001819	synonymous_variant	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1629G>A	19.37:g.45655400C>T			B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	pfam_KAP_NTPase	p.P765	ENST00000438936.2	37	c.2295		19																																																																																			NKPD1	-	NULL	ENSG00000179846		0.741	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	-	0.00	17	0	C	NM_198478		45655400	-1	tier1	-	no_errors	ENST00000317951	ensembl	human	known	74_37	silent	25.00	18	6	SNP	0.994	T
NOP14	8602	genome.wustl.edu	37	4	2956170	2956170	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:2956170G>A	ENST00000314262.6	-	4	641	c.593C>T	c.(592-594)gCc>gTc	p.A198V	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.A198V|NOP14_ENST00000398071.4_Missense_Mutation_p.A198V|NOP14_ENST00000416614.2_Missense_Mutation_p.A198V	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	198					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTTTGACTTGGCAATGAGCTC	0.483																																																	0													186.0	179.0	181.0					4																	2956170		2203	4300	6503	SO:0001583	missense	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.593C>T	4.37:g.2956170G>A	ENSP00000315674:p.Ala198Val		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.A198V	ENST00000314262.6	37	c.593	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802144	0.50315	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.26	3.52	0.40303	.	0.377447	0.28317	N	0.015788	T	0.51770	0.1694	M	0.74389	2.26	0.37722	D	0.924968	B;P	0.46277	0.437;0.875	B;P	0.51895	0.383;0.683	T	0.60915	-0.7168	10	0.87932	D	0	-21.2544	8.3446	0.32266	0.2392:0.0:0.7608:0.0	.	198;198	E9PFK5;P78316	.;NOP14_HUMAN	V	198;198;198;198;97	ENSP00000405068:A198V;ENSP00000315674:A198V;ENSP00000427415:A198V;ENSP00000381146:A198V	ENSP00000315674:A198V	A	-	2	0	NOP14	2925968	0.997000	0.39634	0.675000	0.29917	0.936000	0.57629	2.638000	0.46562	1.225000	0.43566	0.655000	0.94253	GCC	NOP14	-	pfam_Nop14	ENSG00000087269		0.483	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	-	0.00	122	0	G	NM_003703		2956170	-1	tier1	-	no_errors	ENST00000416614	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.593	A
NOTCH2	4853	genome.wustl.edu	37	1	120479966	120479966	+	Missense_Mutation	SNP	G	G	T	rs367562640		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:120479966G>T	ENST00000256646.2	-	21	3680	c.3461C>A	c.(3460-3462)gCg>gAg	p.A1154E		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1154	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTTGGACGCACACTCATC	0.567			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													141.0	116.0	124.0					1																	120479966		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3461C>A	1.37:g.120479966G>T	ENSP00000256646:p.Ala1154Glu		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A1154E	ENST00000256646.2	37	c.3461	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975436	0.02215	.	.	ENSG00000134250	ENST00000256646	D	0.93659	-3.26	5.06	1.05	0.20165	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.494319	0.14828	U	0.296041	T	0.73521	0.3597	N	0.20986	0.625	0.09310	N	1	B;B	0.27380	0.177;0.003	B;B	0.38755	0.281;0.01	T	0.68557	-0.5377	10	0.02654	T	1	.	5.0751	0.14626	0.3191:0.0:0.5358:0.1451	.	1154;1154	Q6IQ50;Q04721	.;NOTC2_HUMAN	E	1154	ENSP00000256646:A1154E	ENSP00000256646:A1154E	A	-	2	0	NOTCH2	120281489	0.000000	0.05858	0.242000	0.24170	0.777000	0.43975	0.450000	0.21762	0.256000	0.21614	-0.918000	0.02743	GCG	NOTCH2	-	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000134250		0.567	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1		0.00	53	0	G	NM_024408		120479966	-1			no_errors	ENST00000256646	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.001	T
NPAT	4863	genome.wustl.edu	37	11	108057217	108057217	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:108057217C>T	ENST00000278612.8	-	8	823	c.718G>A	c.(718-720)Gta>Ata	p.V240I	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	240	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACTTTTTCTACTGCAAAAGCG	0.333																																																	0													108.0	99.0	102.0					11																	108057217		1803	4071	5874	SO:0001583	missense	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.718G>A	11.37:g.108057217C>T	ENSP00000278612:p.Val240Ile		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.V240I	ENST00000278612.8	37	c.718	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016942	0.54576	.	.	ENSG00000149308	ENST00000278612	T	0.04706	3.57	5.76	5.76	0.90799	.	0.203184	0.43919	D	0.000516	T	0.06005	0.0156	L	0.35723	1.085	0.34765	D	0.73308	P;P	0.35011	0.48;0.48	B;B	0.38500	0.275;0.275	T	0.34925	-0.9809	10	0.36615	T	0.2	-16.9085	10.9378	0.47255	0.0:0.9147:0.0:0.0853	.	240;240	B9EG70;Q14207	.;NPAT_HUMAN	I	240	ENSP00000278612:V240I	ENSP00000278612:V240I	V	-	1	0	NPAT	107562427	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.700000	0.47085	2.721000	0.93114	0.655000	0.94253	GTA	NPAT	-	NULL	ENSG00000149308		0.333	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2	-	0.00	49	0	C	NM_002519		108057217	-1	tier1	-	no_errors	ENST00000278612	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
NPAT	4863	genome.wustl.edu	37	11	108057247	108057247	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:108057247G>A	ENST00000278612.8	-	8	793	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	230	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGAAATTCCGTATTGTTGAA	0.318																																																	0													110.0	104.0	106.0					11																	108057247		1810	4075	5885	SO:0001583	missense	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.688C>T	11.37:g.108057247G>A	ENSP00000278612:p.Arg230Trp		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.R230W	ENST00000278612.8	37	c.688	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477146	0.44044	.	.	ENSG00000149308	ENST00000278612	T	0.04862	3.54	5.39	3.45	0.39498	.	0.118536	0.53938	N	0.000043	T	0.07503	0.0189	L	0.60455	1.87	0.39266	D	0.964293	B;B	0.19817	0.039;0.039	B;B	0.16289	0.015;0.015	T	0.12167	-1.0558	10	0.87932	D	0	-3.1871	6.2782	0.20993	0.0865:0.0:0.5872:0.3263	.	230;230	B9EG70;Q14207	.;NPAT_HUMAN	W	230	ENSP00000278612:R230W	ENSP00000278612:R230W	R	-	1	2	NPAT	107562457	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.189000	0.17037	0.595000	0.29777	0.655000	0.94253	CGG	NPAT	-	NULL	ENSG00000149308		0.318	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2		0.00	55	0	G	NM_002519		108057247	-1			no_errors	ENST00000278612	ensembl	human	known	74_37	missense	6.12	45	3	SNP	1.000	A
NTM	50863	genome.wustl.edu	37	11	132206566	132206566	+	3'UTR	DEL	T	T	-	rs61142048|rs368958484	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:132206566delT	ENST00000374786.1	+	0	3040				NTM_ENST00000374791.3_3'UTR|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						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						TTAGGTAATCTTTTTTTTTTT	0.458													|||unknown(HR)	1219	0.243411	0.2564	0.1729	5008	,	,		17993	0.2639		0.1282	False		,,,				2504	0.3732																0																																										SO:0001624	3_prime_UTR_variant	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.*1526T>-	11.37:g.132206566delT			A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.458	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1		0.00	16	0	T	NM_016522		132206566	+1	tier1		no_errors	ENST00000474900	ensembl	human	known	74_37	rna	13.79	25	4	DEL	0.131	-
NUP205	23165	genome.wustl.edu	37	7	135255953	135255953	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:135255953G>T	ENST00000285968.6	+	2	155	c.129G>T	c.(127-129)ttG>ttT	p.L43F	NUP205_ENST00000489493.1_3'UTR|NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	43					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATAAGATTTTGAAGAAACACA	0.353																																																	0													80.0	82.0	81.0					7																	135255953		2203	4300	6503	SO:0001583	missense	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.129G>T	7.37:g.135255953G>T	ENSP00000285968:p.Leu43Phe		A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_Nup186/Nup192/Nup205	p.L43F	ENST00000285968.6	37	c.129	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879786	0.51801	.	.	ENSG00000155561	ENST00000285968	T	0.59638	0.25	5.44	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73081	-0.4095	10	0.87932	D	0	-5.7079	8.7563	0.34648	0.3312:0.0:0.6688:0.0	.	43	Q92621	NU205_HUMAN	F	43	ENSP00000285968:L43F	ENSP00000285968:L43F	L	+	3	2	NUP205	134906493	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.970000	0.49240	0.684000	0.31448	-1.128000	0.01989	TTG	NUP205	-	pfam_Nup186/Nup192/Nup205	ENSG00000155561		0.353	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	-	0.00	35	0	G			135255953	+1	tier1	-	no_errors	ENST00000285968	ensembl	human	known	74_37	missense	8.22	67	6	SNP	1.000	T
NUP205	23165	genome.wustl.edu	37	7	135304439	135304440	+	Splice_Site	INS	-	-	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:135304439_135304440insT	ENST00000285968.6	+	29	4257		c.e29+1			NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGAAGACAGGTTTTTTTCATT	0.312																																																	0																																										SO:0001630	splice_region_variant	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4231+1->T	7.37:g.135304446_135304446dupT			A6H8X3|Q86YC1	Splice_Site	INS	-	e29+1	ENST00000285968.6	37	c.4231+1_4231+1	CCDS34759.1	7																																																																																			NUP205	-	-	ENSG00000155561		0.312	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1		0.00	62	0	-		Intron	135304440	+1	tier1		no_errors	ENST00000285968	ensembl	human	known	74_37	splice_site_ins	7.50	74	6	INS	1.000:0.997	T
OLFM3	118427	genome.wustl.edu	37	1	102269549	102269549	+	3'UTR	DEL	T	T	-			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:102269549delT	ENST00000338858.5	-	0	1681				OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_3'UTR|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3						eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ACTTAAACTCTTTTTTTTTTT	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.*245A>-	1.37:g.102269549delT			Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	RNA	DEL	-	NULL	ENST00000338858.5	37	NULL		1																																																																																			OLFM3	-	-	ENSG00000118733		0.338	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1		0.00	17	0	T			102269549	-1	tier1		no_errors	ENST00000462354	ensembl	human	known	74_37	rna	26.09	17	6	DEL	0.475	-
OMD	4958	genome.wustl.edu	37	9	95179781	95179781	+	Silent	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:95179781G>A	ENST00000375550.4	-	2	335	c.60C>T	c.(58-60)tgC>tgT	p.C20C	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	20					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TTTCATATTGGCAATGTACTT	0.343			T	USP6	aneurysmal bone cysts																																			Dom	yes		9	9q22.31	4958	osteomodulin		M	0													66.0	60.0	62.0					9																	95179781		2203	4300	6503	SO:0001819	synonymous_variant	0			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.60C>T	9.37:g.95179781G>A			Q5TBF4	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.C20	ENST00000375550.4	37	c.60	CCDS6696.1	9																																																																																			OMD	-	NULL	ENSG00000127083		0.343	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMD	HGNC	protein_coding	OTTHUMT00000053090.1	-	0.00	50	0	G	NM_005014		95179781	-1	tier1	-	no_errors	ENST00000375550	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	A
OR10Z1	128368	genome.wustl.edu	37	1	158576932	158576932	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:158576932A>C	ENST00000361284.1	+	1	704	c.704A>C	c.(703-705)aAg>aCg	p.K235T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGGGCAGAAGAAGGCCTTC	0.512																																																	0													172.0	172.0	172.0					1																	158576932		2203	4300	6503	SO:0001583	missense	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.704A>C	1.37:g.158576932A>C	ENSP00000354707:p.Lys235Thr		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K235T	ENST00000361284.1	37	c.704	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.741667	0.30865	.	.	ENSG00000198967	ENST00000361284	T	0.00130	8.69	5.25	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.225081	0.24786	N	0.035604	T	0.00039	0.0001	M	0.69185	2.1	0.09310	N	1	B	0.22541	0.071	B	0.22386	0.039	T	0.41395	-0.9511	10	0.42905	T	0.14	.	7.9587	0.30057	0.7492:0.0:0.2508:0.0	.	235	Q8NGY1	O10Z1_HUMAN	T	235	ENSP00000354707:K235T	ENSP00000354707:K235T	K	+	2	0	OR10Z1	156843556	0.000000	0.05858	0.823000	0.32752	0.973000	0.67179	0.162000	0.16501	0.134000	0.18681	0.528000	0.53228	AAG	OR10Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198967		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0.00	29	0	A	NM_001004478		158576932	+1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	missense	30.30	23	10	SNP	0.180	C
OR10J1	26476	genome.wustl.edu	37	1	159409959	159409959	+	Silent	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:159409959C>A	ENST00000423932.3	+	1	448	c.411C>A	c.(409-411)atC>atA	p.I137I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	137					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGTGGCCATCTGCAACCCCC	0.493																																																	0													115.0	106.0	109.0					1																	159409959		2203	4300	6503	SO:0001819	synonymous_variant	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.411C>A	1.37:g.159409959C>A			Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I137	ENST00000423932.3	37	c.411	CCDS1185.1	1																																																																																			OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196184		0.493	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	-	0.00	76	0	C	NM_012351		159409959	+1	tier1	-	no_errors	ENST00000423932	ensembl	human	known	74_37	silent	16.13	52	10	SNP	1.000	A
OR2A14	135941	genome.wustl.edu	37	7	143826277	143826277	+	Silent	SNP	T	T	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:143826277T>C	ENST00000408899.2	+	1	127	c.72T>C	c.(70-72)atT>atC	p.I24I		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CACTGGAGATTCTCCTCTGTG	0.512																																																	0													130.0	128.0	129.0					7																	143826277		2042	4202	6244	SO:0001819	synonymous_variant	0				CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.72T>C	7.37:g.143826277T>C			Q6IF41|Q8NGT8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I24	ENST00000408899.2	37	c.72	CCDS43672.1	7																																																																																			OR2A14	-	NULL	ENSG00000221938		0.512	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A14	HGNC	protein_coding	OTTHUMT00000349980.1	-	0.00	96	0	T			143826277	+1	tier1	-	no_errors	ENST00000408899	ensembl	human	known	74_37	silent	20.66	96	25	SNP	0.000	C
OR4K17	390436	genome.wustl.edu	37	14	20586552	20586553	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:20586552_20586553insA	ENST00000315543.4	+	1	987_988	c.987_988insA	c.(988-990)aaafs	p.K330fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGATATCCATGAAAAAACTCTG	0.371																																																	0																																										SO:0001589	frameshift_variant	0				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.993dupA	14.37:g.20586558_20586558dupA	ENSP00000319197:p.Lys330fs		Q6IF12	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L331fs	ENST00000315543.4	37	c.987_988	CCDS32030.1	14																																																																																			OR4K17	-	NULL	ENSG00000176230		0.371	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K17	HGNC	protein_coding	OTTHUMT00000410346.1		0.00	37	0	-			20586553	+1	tier1		no_errors	ENST00000315543	ensembl	human	known	74_37	frame_shift_ins	20.59	54	14	INS	0.986:0.979	A
OR51E1	143503	genome.wustl.edu	37	11	4674369	4674369	+	Missense_Mutation	SNP	G	G	T	rs185465942	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:4674369G>T	ENST00000396952.5	+	2	1263	c.613G>T	c.(613-615)Gtc>Ttc	p.V205F	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCTTATCGTCATCATCTC	0.498																																																	0													237.0	209.0	218.0					11																	4674369		2201	4298	6499	SO:0001583	missense	0			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.613G>T	11.37:g.4674369G>T	ENSP00000380155:p.Val205Phe		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V205F	ENST00000396952.5	37	c.613	CCDS31358.2	11	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876160	0.51801	.	.	ENSG00000180785	ENST00000396952	T	0.72051	-0.62	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.126830	0.35495	N	0.003178	T	0.77205	0.4096	L	0.48218	1.51	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	T	0.78293	-0.2260	10	0.87932	D	0	.	10.3178	0.43747	0.0912:0.0:0.9088:0.0	.	204	Q8TCB6	O51E1_HUMAN	F	205	ENSP00000380155:V205F	ENSP00000380155:V205F	V	+	1	0	OR51E1	4630945	0.223000	0.23663	1.000000	0.80357	0.972000	0.66771	1.957000	0.40392	2.605000	0.88082	0.655000	0.94253	GTC	OR51E1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180785		0.498	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E1	HGNC	protein_coding	OTTHUMT00000347136.2	-	0.00	61	0	G	NM_152430		4674369	+1	tier1	-	no_errors	ENST00000396952	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.840	T
OR51G1	79324	genome.wustl.edu	37	11	4944691	4944691	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:4944691G>C	ENST00000321961.2	-	1	946	c.879C>G	c.(877-879)atC>atG	p.I293M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATGCTGTAGATGATGGGGT	0.433																																																	0													169.0	155.0	160.0					11																	4944691		2201	4298	6499	SO:0001583	missense	0			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.879C>G	11.37:g.4944691G>C	ENSP00000322546:p.Ile293Met		B9EGW8|Q6IFH6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I293M	ENST00000321961.2	37	c.879	CCDS31366.1	11	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479863	0.26511	.	.	ENSG00000176879	ENST00000321961	T	0.57273	0.41	4.53	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.231198	0.21746	U	0.069743	T	0.45577	0.1349	M	0.74467	2.265	0.24784	N	0.992796	B	0.10296	0.003	B	0.12156	0.007	T	0.49303	-0.8954	10	0.87932	D	0	.	2.4581	0.04534	0.3476:0.0:0.4355:0.2169	.	293	Q8NGK1	O51G1_HUMAN	M	293	ENSP00000322546:I293M	ENSP00000322546:I293M	I	-	3	3	OR51G1	4901267	0.015000	0.18098	1.000000	0.80357	0.984000	0.73092	-1.265000	0.02844	1.123000	0.41961	0.557000	0.71058	ATC	OR51G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000176879		0.433	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	HGNC	protein_coding	OTTHUMT00000142345.1	-	0.00	73	0	G	NM_001005237		4944691	-1	tier1	-	no_errors	ENST00000321961	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.994	C
OR6C4	341418	genome.wustl.edu	37	12	55945623	55945623	+	Missense_Mutation	SNP	C	C	A	rs112164856	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:55945623C>A	ENST00000394256.2	+	1	641	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CGTTGTGACTCTCATGGTTAC	0.483																																																	0													164.0	138.0	147.0					12																	55945623		2203	4300	6503	SO:0001583	missense	0			BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.613C>A	12.37:g.55945623C>A	ENSP00000377799:p.Leu205Ile		A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L205I	ENST00000394256.2	37	c.613	CCDS31827.1	12	.	.	.	.	.	.	.	.	.	.	C	11.27	1.587967	0.28268	.	.	ENSG00000179626	ENST00000394256	T	0.37584	1.19	4.94	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39210	N	0.001430	T	0.45657	0.1353	L	0.49699	1.58	0.09310	N	1	D	0.64830	0.994	P	0.62382	0.901	T	0.29671	-1.0004	10	0.72032	D	0.01	.	6.2106	0.20628	0.0:0.6891:0.0:0.3109	.	205	Q8NGE1	OR6C4_HUMAN	I	205	ENSP00000377799:L205I	ENSP00000377799:L205I	L	+	1	0	OR6C4	54231890	0.000000	0.05858	0.580000	0.28601	0.016000	0.09150	-2.460000	0.00999	1.450000	0.47717	0.650000	0.86243	CTC	OR6C4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179626		0.483	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C4	HGNC	protein_coding	OTTHUMT00000406678.1		0.00	20	0	C			55945623	+1			no_errors	ENST00000394256	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.002	A
OR6F1	343169	genome.wustl.edu	37	1	247875722	247875722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:247875722G>T	ENST00000302084.2	-	1	383	c.336C>A	c.(334-336)taC>taA	p.Y112*	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCAGGAGGAAGTACTCTGTGC	0.507																																																	0													92.0	90.0	91.0					1																	247875722		2203	4300	6503	SO:0001587	stop_gained	0			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.336C>A	1.37:g.247875722G>T	ENSP00000305640:p.Tyr112*		B2RNV6|Q6IF02|Q96R39	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y112*	ENST00000302084.2	37	c.336	CCDS31095.1	1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416738	0.25552	.	.	ENSG00000169214	ENST00000302084	.	.	.	3.99	-1.22	0.09494	.	0.187138	0.26193	N	0.025786	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-22.7233	9.1109	0.36727	0.5391:0.0:0.4609:0.0	.	.	.	.	X	112	.	ENSP00000305640:Y112X	Y	-	3	2	OR6F1	245942345	0.000000	0.05858	0.731000	0.30826	0.101000	0.19017	-0.873000	0.04214	-0.114000	0.11936	-0.948000	0.02665	TAC	OR6F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000169214		0.507	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	HGNC	protein_coding	OTTHUMT00000096870.1	-	0.00	32	0	G	NM_001005286		247875722	-1	tier1	-	no_errors	ENST00000302084	ensembl	human	known	74_37	nonsense	14.29	24	4	SNP	0.001	T
OR8H2	390151	genome.wustl.edu	37	11	55873035	55873035	+	Missense_Mutation	SNP	G	G	A	rs201218671	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:55873035G>A	ENST00000313503.1	+	1	517	c.517G>A	c.(517-519)Gta>Ata	p.V173I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CGACTCAAACGTAATTCATCA	0.428										HNSCC(53;0.14)			g|||	3	0.000599042	0.0015	0.0	5008	,	,		21153	0.001		0.0	False		,,,				2504	0.0																0													266.0	241.0	249.0					11																	55873035		2201	4296	6497	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.517G>A	11.37:g.55873035G>A	ENSP00000323982:p.Val173Ile		Q6IFC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V173I	ENST00000313503.1	37	c.517	CCDS31518.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	4.760	0.141395	0.09083	.	.	ENSG00000181767	ENST00000313503	T	0.00076	8.76	3.44	0.468	0.16732	GPCR, rhodopsin-like superfamily (1);	0.426339	0.20138	N	0.098447	T	0.00073	0.0002	N	0.11255	0.115	0.09310	N	1	B	0.19706	0.038	B	0.23716	0.048	T	0.02617	-1.1133	10	0.11794	T	0.64	.	8.9407	0.35729	0.3489:0.0:0.6511:0.0	.	173	Q8N162	OR8H2_HUMAN	I	173	ENSP00000323982:V173I	ENSP00000323982:V173I	V	+	1	0	OR8H2	55629611	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.700000	0.05081	0.251000	0.21505	-0.768000	0.03414	GTA	OR8H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181767		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1		0.00	41	0	G	NM_001005200		55873035	+1			no_errors	ENST00000313503	ensembl	human	known	74_37	missense	9.84	55	6	SNP	0.000	A
OTUD4	54726	genome.wustl.edu	37	4	146101019	146101019	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:146101019C>T	ENST00000447906.2	-	1	294	c.107G>A	c.(106-108)cGg>cAg	p.R36Q	OTUD4_ENST00000509620.2_5'Flank|OTUD4_ENST00000455611.2_5'Flank|OTUD4_ENST00000296579.6_5'Flank|OTUD4_ENST00000454497.2_5'Flank			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	36	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GACCAGTTTCCGATACAAGCC	0.741																																																	0																																										SO:0001583	missense	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.107G>A	4.37:g.146101019C>T	ENSP00000395487:p.Arg36Gln		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.R36Q	ENST00000447906.2	37	c.107		4	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597601	0.87055	.	.	ENSG00000164164	ENST00000447906	T	0.41065	1.01	4.87	4.03	0.46877	.	.	.	.	.	T	0.54615	0.1869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57883	-0.7734	6	0.87932	D	0	-7.9259	10.7895	0.46424	0.0:0.9071:0.0:0.0929	.	.	.	.	Q	36	ENSP00000395487:R36Q	ENSP00000395487:R36Q	R	-	2	0	OTUD4	146320469	1.000000	0.71417	0.985000	0.45067	0.553000	0.35397	5.751000	0.68720	1.043000	0.40175	0.561000	0.74099	CGG	OTUD4	-	pfscan_OTU	ENSG00000164164		0.741	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	-	0.00	24	0	C	NM_017493		146101019	-1	tier1	-	no_errors	ENST00000447906	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	T
P2RX5	5026	genome.wustl.edu	37	17	3592831	3592831	+	Silent	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:3592831G>A	ENST00000225328.5	-	7	1106	c.708C>T	c.(706-708)tcC>tcT	p.S236S	P2RX5_ENST00000345901.3_Silent_p.S212S|P2RX5_ENST00000547178.1_Silent_p.S235S|P2RX5_ENST00000551178.1_Silent_p.S211S|P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000435558.1_Silent_p.S236S|P2RX5-TAX1BP3_ENST00000550383.1_Silent_p.S236S|P2RX5_ENST00000552276.1_Silent_p.S235S|P2RX5_ENST00000552050.1_Silent_p.S176S	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	236					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						AGCGGATCACGGAGCCCAGTC	0.622																																																	0													157.0	131.0	140.0					17																	3592831		2203	4300	6503	SO:0001819	synonymous_variant	0			AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.708C>T	17.37:g.3592831G>A			G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Silent	SNP	pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor	p.S236	ENST00000225328.5	37	c.708	CCDS11034.1	17																																																																																			P2RX5	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000083454		0.622	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX5	HGNC	protein_coding	OTTHUMT00000207388.3	-	0.00	110	0	G	NM_002561, NM_175080, NM_175081		3592831	-1	tier1	-	no_errors	ENST00000435558	ensembl	human	known	74_37	silent	57.58	28	38	SNP	0.000	A
PAN3	255967	genome.wustl.edu	37	13	28834674	28834674	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:28834674G>T	ENST00000380958.3	+	8	1491	c.1339G>T	c.(1339-1341)Gat>Tat	p.D447Y	PAN3_ENST00000399613.1_Missense_Mutation_p.D247Y|PAN3_ENST00000282391.5_Missense_Mutation_p.D135Y	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)		CTTCATGGCTGATGAACTCCG	0.408																																																	0													135.0	119.0	124.0					13																	28834674		2203	4300	6503	SO:0001583	missense	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.1339G>T	13.37:g.28834674G>T	ENSP00000370345:p.Asp447Tyr			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom	p.D447Y	ENST00000380958.3	37	c.1339	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787670	0.90367	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.06294	3.32;3.32;3.32	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.994;0.999	D;D;P;D	0.71870	0.975;0.952;0.878;0.952	T	0.00088	-1.2090	10	0.72032	D	0.01	-12.6048	19.8535	0.96748	0.0:0.0:1.0:0.0	.	447;447;135;393	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	Y	447;247;135	ENSP00000370345:D447Y;ENSP00000382522:D247Y;ENSP00000282391:D135Y	ENSP00000282391:D135Y	D	+	1	0	PAN3	27732674	1.000000	0.71417	0.949000	0.38748	0.981000	0.71138	9.605000	0.98321	2.686000	0.91538	0.585000	0.79938	GAT	PAN3	-	NULL	ENSG00000152520		0.408	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	-	0.00	57	0	G	NM_175854		28834674	+1	tier1	-	no_errors	ENST00000380958	ensembl	human	known	74_37	missense	33.33	29	15	SNP	1.000	T
PAXBP1	94104	genome.wustl.edu	37	21	34110576	34110576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr21:34110576C>A	ENST00000331923.4	-	16	2578	c.2389G>T	c.(2389-2391)Gag>Tag	p.E797*	PAXBP1-AS1_ENST00000455170.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	797					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATTGATAACTCTTGCAGAGTT	0.318																																																	0													62.0	64.0	63.0					21																	34110576		2203	4295	6498	SO:0001587	stop_gained	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2389G>T	21.37:g.34110576C>A	ENSP00000328992:p.Glu797*		D3DSE7|Q96DU8|Q9NYQ0	Nonsense_Mutation	SNP	pfam_GCFC_dom	p.E797*	ENST00000331923.4	37	c.2389	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	C	39	7.863254	0.98531	.	.	ENSG00000159086	ENST00000331923	.	.	.	5.72	4.84	0.62591	.	0.046527	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-23.8936	14.7823	0.69776	0.0:0.9301:0.0:0.0699	.	.	.	.	X	797	.	ENSP00000328992:E797X	E	-	1	0	GCFC1	33032447	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	6.670000	0.74467	1.577000	0.49804	0.563000	0.77884	GAG	PAXBP1	-	pfam_GCFC_dom	ENSG00000159086		0.318	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAXBP1	HGNC	protein_coding	OTTHUMT00000139563.1		0.00	25	0	C	NM_013329		34110576	-1			no_errors	ENST00000331923	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	1.000	A
PCDH9	5101	genome.wustl.edu	37	13	67799816	67799816	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:67799816G>T	ENST00000377865.2	-	1	2891	c.2757C>A	c.(2755-2757)gaC>gaA	p.D919E	PCDH9_ENST00000544246.1_Missense_Mutation_p.D919E|PCDH9_ENST00000456367.1_Missense_Mutation_p.D919E|PCDH9_ENST00000328454.5_Missense_Mutation_p.D919E|PCDH9_ENST00000377861.3_Missense_Mutation_p.D919E			Q9HC56	PCDH9_HUMAN	protocadherin 9	919					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCGGGCCCCAGTCAAATCTTC	0.498																																																	0													109.0	108.0	108.0					13																	67799816		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2757C>A	13.37:g.67799816G>T	ENSP00000367096:p.Asp919Glu		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D919E	ENST00000377865.2	37	c.2757	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694186	0.30052	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52526	0.73;0.73;0.66;0.66;0.7	5.73	5.73	0.89815	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.29908	0.895	0.49483	D	0.999792	P;P;P;P	0.42161	0.772;0.772;0.73;0.772	P;P;P;P	0.49922	0.626;0.542;0.492;0.626	T	0.47649	-0.9101	10	0.62326	D	0.03	.	13.569	0.61834	0.0802:0.0:0.9198:0.0	.	919;919;919;919	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	E	919	ENSP00000442186:D919E;ENSP00000367096:D919E;ENSP00000401699:D919E;ENSP00000332060:D919E;ENSP00000367092:D919E	ENSP00000332060:D919E	D	-	3	2	PCDH9	66697817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.823000	0.39062	2.709000	0.92574	0.655000	0.94253	GAC	PCDH9	-	pfam_Protocadherin	ENSG00000184226		0.498	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	52	0	G	NM_203487		67799816	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	6.15	60	4	SNP	1.000	T
PCDH9	5101	genome.wustl.edu	37	13	67800403	67800403	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:67800403C>G	ENST00000377865.2	-	1	2304	c.2170G>C	c.(2170-2172)Ggc>Cgc	p.G724R	PCDH9_ENST00000544246.1_Missense_Mutation_p.G724R|PCDH9_ENST00000456367.1_Missense_Mutation_p.G724R|PCDH9_ENST00000328454.5_Missense_Mutation_p.G724R|PCDH9_ENST00000377861.3_Missense_Mutation_p.G724R			Q9HC56	PCDH9_HUMAN	protocadherin 9	724	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGGAATAAGCCTTTATTGTTT	0.428																																																	0													143.0	141.0	141.0					13																	67800403		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2170G>C	13.37:g.67800403C>G	ENSP00000367096:p.Gly724Arg		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G724R	ENST00000377865.2	37	c.2170	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735236	0.69189	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.047923	0.85682	D	0.000000	T	0.58323	0.2114	L	0.41356	1.27	0.58432	D	0.999995	P;P;P;D	0.53462	0.919;0.879;0.951;0.96	P;P;P;P	0.58130	0.783;0.673;0.743;0.833	T	0.49652	-0.8917	10	0.35671	T	0.21	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	724;724;724;724	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	R	724	ENSP00000442186:G724R;ENSP00000367096:G724R;ENSP00000401699:G724R;ENSP00000332060:G724R;ENSP00000367092:G724R	ENSP00000332060:G724R	G	-	1	0	PCDH9	66698404	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.943000	0.63554	2.814000	0.96858	0.655000	0.94253	GGC	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000184226		0.428	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	113	0	C	NM_203487		67800403	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	36.90	53	31	SNP	1.000	G
PCDHA5	56143	genome.wustl.edu	37	5	140203586	140203586	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:140203586C>T	ENST00000529859.1	+	1	2226	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.S742S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S742S|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	742					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S742R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.652																																																	2	Substitution - Missense(2)	lung(2)											62.0	58.0	59.0					5																	140203586		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2226C>T	5.37:g.140203586C>T			O75284|Q8N4R3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S742	ENST00000529859.1	37	c.2226	CCDS54917.1	5																																																																																			PCDHA5	-	NULL	ENSG00000204965		0.652	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	-	0.00	66	0	C	NM_018908		140203586	+1	tier1	-	no_errors	ENST00000529859	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.668	T
PCDHA9	9752	genome.wustl.edu	37	5	140230270	140230270	+	Silent	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:140230270C>A	ENST00000532602.1	+	1	3223	c.2190C>A	c.(2188-2190)ggC>ggA	p.G730G	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.G730G|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	730					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGAGGGCGAGTGCGCGC	0.642																																					Melanoma(55;1800 1972 14909)												0													72.0	64.0	67.0					5																	140230270		2197	4270	6467	SO:0001819	synonymous_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2190C>A	5.37:g.140230270C>A			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G730	ENST00000532602.1	37	c.2190	CCDS54920.1	5																																																																																			PCDHA9	-	NULL	ENSG00000204961		0.642	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0.00	84	0	C	NM_031857		140230270	+1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	8.06	57	5	SNP	0.586	A
PCSK7	9159	genome.wustl.edu	37	11	117090434	117090434	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:117090434G>T	ENST00000320934.3	-	10	1826	c.1196C>A	c.(1195-1197)aCt>aAt	p.T399N	PCSK7_ENST00000540028.1_Missense_Mutation_p.T40N	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	399	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGGCCCTCAGTGCAGCCAGT	0.592			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													34.0	32.0	33.0					11																	117090434		2201	4296	6497	SO:0001583	missense	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1196C>A	11.37:g.117090434G>T	ENSP00000325917:p.Thr399Asn		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.T399N	ENST00000320934.3	37	c.1196	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.127347	0.94473	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	D;D	0.82081	-1.57;-1.57	5.54	5.54	0.83059	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92435	0.5957	10	0.87932	D	0	-18.7393	18.4799	0.90808	0.0:0.0:1.0:0.0	.	399	Q16549	PCSK7_HUMAN	N	399;40;399	ENSP00000325917:T399N;ENSP00000441944:T40N	ENSP00000325917:T399N	T	-	2	0	PCSK7	116595644	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	9.396000	0.97270	2.615000	0.88500	0.557000	0.71058	ACT	PCSK7	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000160613		0.592	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2		0.00	18	0	G	NM_004716		117090434	-1			no_errors	ENST00000320934	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
PDE12	201626	genome.wustl.edu	37	3	57545406	57545406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:57545406C>A	ENST00000311180.8	+	3	1608	c.1505C>A	c.(1504-1506)tCa>tAa	p.S502*	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	502					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGTACACCATCAACAGGAATG	0.413																																					Colon(125;308 1634 19198 50622 50717)												0													119.0	115.0	116.0					3																	57545406		2203	4300	6503	SO:0001587	stop_gained	0			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1505C>A	3.37:g.57545406C>A	ENSP00000309142:p.Ser502*		B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.S502*	ENST00000311180.8	37	c.1505	CCDS33772.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.243971	0.97408	.	.	ENSG00000174840	ENST00000311180	.	.	.	5.95	5.08	0.68730	.	0.322097	0.33772	N	0.004574	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-9.6609	10.0434	0.42173	0.1367:0.7947:0.0:0.0686	.	.	.	.	X	502	.	ENSP00000309142:S502X	S	+	2	0	PDE12	57520446	1.000000	0.71417	0.796000	0.32109	0.921000	0.55340	4.623000	0.61247	1.529000	0.49120	0.563000	0.77884	TCA	PDE12	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000174840		0.413	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	HGNC	protein_coding	OTTHUMT00000351440.2	-	0.00	45	0	C	NM_177966		57545406	+1	tier1	-	no_errors	ENST00000311180	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	0.775	A
PDE3A	5139	genome.wustl.edu	37	12	20806960	20806960	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:20806960A>T	ENST00000359062.3	+	15	3045	c.3005A>T	c.(3004-3006)gAa>gTa	p.E1002V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1002	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AACCTTCAGGAATCCTTCATC	0.488																																																	0													96.0	89.0	91.0					12																	20806960		2203	4300	6503	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3005A>T	12.37:g.20806960A>T	ENSP00000351957:p.Glu1002Val		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.E1002V	ENST00000359062.3	37	c.3005	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961827	0.74016	.	.	ENSG00000172572	ENST00000359062	T	0.74106	-0.81	5.31	5.31	0.75309	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	N	0.04090	-0.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65034	-0.6266	10	0.02654	T	1	.	15.5617	0.76253	1.0:0.0:0.0:0.0	.	1002	Q14432	PDE3A_HUMAN	V	1002	ENSP00000351957:E1002V	ENSP00000351957:E1002V	E	+	2	0	PDE3A	20698227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.851000	0.92205	2.147000	0.66899	0.533000	0.62120	GAA	PDE3A	-	pfam_PDEase_catalytic_dom	ENSG00000172572		0.488	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	-	0.00	37	0	A			20806960	+1	tier1	-	no_errors	ENST00000359062	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	T
PHF2	5253	genome.wustl.edu	37	9	96439033	96439033	+	Missense_Mutation	SNP	G	G	C	rs10992857		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:96439033G>C	ENST00000359246.4	+	21	3357	c.2990G>C	c.(2989-2991)aGc>aCc	p.S997T	PHF2_ENST00000375376.4_Missense_Mutation_p.S228T	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	997	Ser/Thr-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		gcctccaccagcacggccagc	0.706																																																	0													55.0	46.0	49.0					9																	96439033		2112	4142	6254	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2990G>C	9.37:g.96439033G>C	ENSP00000352185:p.Ser997Thr		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.S997T	ENST00000359246.4	37	c.2990	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370053	0.24771	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.59772	0.24;0.24	4.46	3.55	0.40652	.	0.564507	0.20259	N	0.095916	T	0.32346	0.0826	N	0.14661	0.345	0.27151	N	0.961405	B	0.29037	0.231	B	0.21917	0.037	T	0.06716	-1.0811	10	0.24483	T	0.36	-10.9782	5.9056	0.18998	0.1875:0.0:0.8125:0.0	rs10992857	997	O75151	PHF2_HUMAN	T	997;228	ENSP00000352185:S997T;ENSP00000364525:S228T	ENSP00000352185:S997T	S	+	2	0	PHF2	95478854	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.004000	0.40854	2.414000	0.81942	0.650000	0.86243	AGC	PHF2	-	NULL	ENSG00000197724		0.706	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	-	0.00	38	0	G	NM_005392		96439033	+1	tier1	rs10992857	no_errors	ENST00000359246	ensembl	human	known	74_37	missense	9.33	67	7	SNP	1.000	C
PICALM	8301	genome.wustl.edu	37	11	85685805	85685805	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:85685805G>T	ENST00000393346.3	-	19	2038	c.1890C>A	c.(1888-1890)taC>taA	p.Y630*	PICALM_ENST00000528398.1_Nonsense_Mutation_p.Y529*|PICALM_ENST00000526033.1_Nonsense_Mutation_p.Y623*|PICALM_ENST00000356360.5_Nonsense_Mutation_p.Y610*|PICALM_ENST00000532317.1_Nonsense_Mutation_p.Y588*			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	630					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CAGGCTGGCTGTATATTAAGG	0.413			T	"""MLLT10, MLL"""	"""TALL, AML, """																																			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													245.0	204.0	218.0					11																	85685805		2203	4299	6502	SO:0001587	stop_gained	0			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1890C>A	11.37:g.85685805G>T	ENSP00000377015:p.Tyr630*		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Nonsense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Y630*	ENST00000393346.3	37	c.1890	CCDS8272.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	38|38|38	6.979796|6.979796|6.979796	0.97979|0.97979|0.97979	.|.|.	.|.|.	ENSG00000073921|ENSG00000073921|ENSG00000073921	ENST00000529760;ENST00000532603;ENST00000526961|ENST00000530692|ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	.|.|.	.|.|.	.|.|.	5.87|5.87|5.87	0.935|0.935|0.935	0.19483|0.19483|0.19483	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|.	0.51041|0.51041|.	0.1651|0.1651|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.58498|0.58498|.	-0.7626|-0.7626|.	3|3|.	.|.|.	.|.|.	.|.|.	-4.7185|-4.7185|-4.7185	10.4728|10.4728|10.4728	0.44646|0.44646|0.44646	0.3107:0.0:0.6893:0.0|0.3107:0.0:0.6893:0.0|0.3107:0.0:0.6893:0.0	.|.|.	.|.|.	.|.|.	.|.|.	K|K|X	286;112;242|167|588;623;630;630;529;610	.|.|.	.|.|.	Q|T|Y	-|-|-	1|2|3	0|0|2	PICALM|PICALM|PICALM	85363453|85363453|85363453	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.976000|0.976000|0.976000	0.68499|0.68499|0.68499	1.139000|1.139000|1.139000	0.31504|0.31504|0.31504	-0.004000|-0.004000|-0.004000	0.14419|0.14419|0.14419	-0.126000|-0.126000|-0.126000	0.14955|0.14955|0.14955	CAG|ACA|TAC	PICALM	-	NULL	ENSG00000073921		0.413	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PICALM	HGNC	protein_coding	OTTHUMT00000392224.1		0.00	135	0	G	NM_007166		85685805	-1			no_errors	ENST00000393346	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	T
PIEZO2	63895	genome.wustl.edu	37	18	10784858	10784858	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr18:10784858G>T	ENST00000503781.3	-	17	2415	c.2416C>A	c.(2416-2418)Cac>Aac	p.H806N	PIEZO2_ENST00000302079.6_Missense_Mutation_p.H806N|PIEZO2_ENST00000580640.1_Missense_Mutation_p.H806N|PIEZO2_ENST00000383408.2_Missense_Mutation_p.H69N	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	806					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TGGAAGTAGTGCAGGTGTAAA	0.473																																																	0													282.0	232.0	248.0					18																	10784858		692	1591	2283	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2416C>A	18.37:g.10784858G>T	ENSP00000421377:p.His806Asn		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.H806N	ENST00000503781.3	37	c.2416		18	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839511	0.51057	.	.	ENSG00000154864	ENST00000302079;ENST00000383408	T;T	0.20069	2.1;2.1	5.35	5.35	0.76521	.	0.099447	0.37053	U	0.002261	T	0.50292	0.1607	M	0.78344	2.41	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.50030	-0.8875	10	0.54805	T	0.06	.	19.4254	0.94740	0.0:0.0:1.0:0.0	.	806	Q9H5I5-4	.	N	806;69	ENSP00000303316:H806N;ENSP00000372900:H69N	ENSP00000303316:H806N	H	-	1	0	FAM38B	10774858	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	9.420000	0.97426	2.657000	0.90304	0.650000	0.86243	CAC	PIEZO2	-	NULL	ENSG00000154864		0.473	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0.00	73	0	G	NM_022068		10784858	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
PKNOX2	63876	genome.wustl.edu	37	11	125301195	125301195	+	Silent	SNP	G	G	A	rs397840770|rs397849304|rs3832749	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:125301195G>A	ENST00000298282.9	+	13	1597	c.1326G>A	c.(1324-1326)gaG>gaA	p.E442E	PKNOX2_ENST00000542175.1_Silent_p.E378E|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	442	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		agatggaagaggaggaggagg	0.572																																																	0													47.0	49.0	49.0					11																	125301195		2176	4267	6443	SO:0001819	synonymous_variant	0			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1326G>A	11.37:g.125301195G>A			B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.E442	ENST00000298282.9	37	c.1326	CCDS41730.1	11																																																																																			PKNOX2	-	NULL	ENSG00000165495		0.572	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	HGNC	protein_coding	OTTHUMT00000386866.3		0.00	20	0	G			125301195	+1			no_errors	ENST00000298282	ensembl	human	known	74_37	silent	17.39	19	4	SNP	1.000	A
PLEKHH2	130271	genome.wustl.edu	37	2	43971091	43971091	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:43971091G>C	ENST00000282406.4	+	23	3628	c.3518G>C	c.(3517-3519)gGc>gCc	p.G1173A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1173	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATCCTTCTGGCAGAGATTTA	0.443																																																	0													120.0	111.0	114.0					2																	43971091		2203	4300	6503	SO:0001583	missense	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3518G>C	2.37:g.43971091G>C	ENSP00000282406:p.Gly1173Ala		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.G1173A	ENST00000282406.4	37	c.3518	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957427	0.92726	.	.	ENSG00000152527	ENST00000282406	T	0.54866	0.55	5.76	5.76	0.90799	Band 4.1 domain (1);FERM domain (1);	0.046124	0.85682	D	0.000000	T	0.73171	0.3553	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.71471	-0.4583	10	0.45353	T	0.12	-19.293	19.9857	0.97347	0.0:0.0:1.0:0.0	.	1173	Q8IVE3	PKHH2_HUMAN	A	1173	ENSP00000282406:G1173A	ENSP00000282406:G1173A	G	+	2	0	PLEKHH2	43824595	1.000000	0.71417	0.930000	0.37139	0.977000	0.68977	9.476000	0.97823	2.706000	0.92434	0.655000	0.94253	GGC	PLEKHH2	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000152527		0.443	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	-	0.00	38	0	G	NM_172069		43971091	+1	tier1	-	no_errors	ENST00000282406	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	C
PKP4	8502	genome.wustl.edu	37	2	159477843	159477843	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:159477843G>T	ENST00000389759.3	+	6	625	c.513G>T	c.(511-513)aaG>aaT	p.K171N	PKP4_ENST00000389757.3_Missense_Mutation_p.K171N	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	171					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.K171N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACGTGAGCAAGGCAGACAACA	0.443										HNSCC(62;0.18)																																							1	Substitution - Missense(1)	ovary(1)											140.0	117.0	125.0					2																	159477843		2203	4300	6503	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.513G>T	2.37:g.159477843G>T	ENSP00000374409:p.Lys171Asn		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.K171N	ENST00000389759.3	37	c.513	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733745	0.69189	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.75050	-0.9;-0.9	5.79	1.87	0.25490	.	0.269624	0.41938	D	0.000797	T	0.77519	0.4142	L	0.44542	1.39	0.51482	D	0.999923	D;D;D;D	0.71674	0.993;0.994;0.996;0.998	P;P;P;D	0.65573	0.893;0.785;0.711;0.936	T	0.75536	-0.3283	10	0.44086	T	0.13	-18.9021	11.0315	0.47776	0.3227:0.0:0.6773:0.0	.	23;171;171;23	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	N	23;171;171	ENSP00000374407:K171N;ENSP00000374409:K171N	ENSP00000374407:K171N	K	+	3	2	PKP4	159186089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.239000	0.32719	0.750000	0.32877	0.655000	0.94253	AAG	PKP4	-	NULL	ENSG00000144283		0.443	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1		0.00	38	0	G			159477843	+1			no_errors	ENST00000389759	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
KIZ	55857	genome.wustl.edu	37	20	21209679	21209679	+	RNA	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr20:21209679C>T	ENST00000457464.1	+	0	1306																											CTGAAGAAGGCCACCCTTCAG	0.373																																																	0													62.0	57.0	59.0					20																	21209679		1877	4103	5980			0																															20.37:g.21209679C>T				RNA	SNP	-	NULL	ENST00000457464.1	37	NULL		20																																																																																			PLK1S1	-	-	ENSG00000088970		0.373	PLK1S1-003	KNOWN	not_organism_supported|sequence_error|basic	processed_transcript	PLK1S1	HGNC	processed_transcript	OTTHUMT00000078262.2	-	0.00	72	0	C			21209679	+1	tier1	-	no_errors	ENST00000246027	ensembl	human	known	74_37	rna	8.70	42	4	SNP	0.999	T
PLK2	10769	genome.wustl.edu	37	5	57750818	57750818	+	Silent	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:57750818G>T	ENST00000274289.3	-	13	2086	c.1786C>A	c.(1786-1788)Cga>Aga	p.R596R	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	596					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CGAGGTCTTCGAATATCAGTA	0.413																																																	0													166.0	170.0	168.0					5																	57750818		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1786C>A	5.37:g.57750818G>T			O60679|Q96CV7|Q9UE61	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.R596	ENST00000274289.3	37	c.1786	CCDS3974.1	5																																																																																			PLK2	-	NULL	ENSG00000145632		0.413	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	HGNC	protein_coding	OTTHUMT00000214150.1		0.00	51	0	G	NM_006622		57750818	-1			no_errors	ENST00000274289	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T
PLOD2	5352	genome.wustl.edu	37	3	145838965	145838965	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:145838965C>A	ENST00000360060.3	-	3	449	c.272G>T	c.(271-273)aGa>aTa	p.R91I	PLOD2_ENST00000494950.1_Missense_Mutation_p.R36I|PLOD2_ENST00000282903.5_Missense_Mutation_p.R91I	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	91					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTTCATTAATCTCACTTTCTG	0.383																																																	0													170.0	149.0	156.0					3																	145838965		2203	4300	6503	SO:0001583	missense	0			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.272G>T	3.37:g.145838965C>A	ENSP00000353170:p.Arg91Ile		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R91I	ENST00000360060.3	37	c.272	CCDS3131.1	3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849717	0.91277	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950;ENST00000469350	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	M	0.76938	2.355	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.996	D;D;D	0.91635	0.993;0.999;0.977	T	0.29518	-1.0009	10	0.72032	D	0.01	-17.9821	18.4785	0.90802	0.0:1.0:0.0:0.0	.	36;91;91	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	I	91;91;36;63	ENSP00000282903:R91I;ENSP00000353170:R91I;ENSP00000420094:R36I;ENSP00000419963:R63I	ENSP00000282903:R91I	R	-	2	0	PLOD2	147321655	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.432000	0.73400	2.695000	0.91970	0.579000	0.79373	AGA	PLOD2	-	NULL	ENSG00000152952		0.383	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD2	HGNC	protein_coding	OTTHUMT00000355185.1		0.00	44	0	C	NM_000935		145838965	-1			no_errors	ENST00000282903	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A
PNLIPRP1	5407	genome.wustl.edu	37	10	118354277	118354277	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:118354277C>T	ENST00000528052.1	+	5	437	c.366C>T	c.(364-366)tgC>tgT	p.C122C	PNLIPRP1_ENST00000534537.1_Silent_p.C122C|PNLIPRP1_ENST00000358834.4_Silent_p.C122C			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	122					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACTGCATCTGCGTGGACTGGA	0.592																																																	0													120.0	102.0	108.0					10																	118354277		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.366C>T	10.37:g.118354277C>T			Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase	p.C122	ENST00000528052.1	37	c.366	CCDS7595.1	10																																																																																			PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc,prints_Lipase	ENSG00000187021		0.592	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	-	0.00	76	0	C	NM_006229		118354277	+1	tier1	-	no_errors	ENST00000358834	ensembl	human	known	74_37	silent	8.24	77	7	SNP	0.401	T
POSTN	10631	genome.wustl.edu	37	13	38143326	38143327	+	Intron	DEL	TT	TT	-	rs58863577|rs564921581|rs576070502	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:38143326_38143327delTT	ENST00000379747.4	-	21	2549				POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379743.4_Intron|POSTN_ENST00000379749.4_Intron	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GGATGTTGTCTTTTTTTTTTTT	0.307														86	0.0171725	0.031	0.0043	5008	,	,		15698	0.0169		0.006	False		,,,				2504	0.0194																0																																										SO:0001627	intron_variant	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2431+109AA>-	13.37:g.38143336_38143337delTT			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	RNA	DEL	-	NULL	ENST00000379747.4	37	NULL	CCDS9364.1	13																																																																																			POSTN	-	-	ENSG00000133110		0.307	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2		0.00	11	0	TT	NM_006475		38143327	-1	tier1		no_errors	ENST00000497145	ensembl	human	known	74_37	rna	10.53	17	2	DEL	0.005:0.005	-
PPP1R14B	26472	genome.wustl.edu	37	11	64012401	64012401	+	Splice_Site	SNP	C	C	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:64012401C>G	ENST00000309318.3	-	3	643		c.e3+1		RP11-783K16.5_ENST00000544553.1_RNA|RP11-783K16.13_ENST00000545800.1_lincRNA|PPP1R14B_ENST00000542235.1_Splice_Site|RP11-783K16.5_ENST00000538355.1_RNA|PPP1R14B_ENST00000392210.2_Splice_Site	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B						regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						AAATCTCTTACCTCTGTGGGT	0.602																																																	0													25.0	28.0	27.0					11																	64012401		2201	4297	6498	SO:0001630	splice_region_variant	0			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.375+1G>C	11.37:g.64012401C>G			Q504S7|Q7KZD7	Splice_Site	SNP	-	e3+1	ENST00000309318.3	37	c.375+1	CCDS31596.1	11	.	.	.	.	.	.	.	.	.	.	c	10.72	1.429159	0.25726	.	.	ENSG00000173457	ENST00000392210;ENST00000309318;ENST00000542235	.	.	.	3.07	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8177	0.40862	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPP1R14B	63768977	1.000000	0.71417	0.688000	0.30117	0.594000	0.36715	2.680000	0.46918	1.736000	0.51660	0.394000	0.25966	.	PPP1R14B	-	-	ENSG00000173457		0.602	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14B	HGNC	protein_coding	OTTHUMT00000396586.2	-	0.00	72	0	C	NM_138689	Intron	64012401	-1	tier1	-	no_errors	ENST00000309318	ensembl	human	known	74_37	splice_site	8.70	42	4	SNP	0.946	G
PPFIA1	8500	genome.wustl.edu	37	11	70208475	70208475	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:70208475G>A	ENST00000253925.7	+	21	2961	c.2746G>A	c.(2746-2748)Gac>Aac	p.D916N	PPFIA1_ENST00000389547.3_Missense_Mutation_p.D916N|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	916	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGCCCTGTCCGACACAGAGAT	0.617																																																	0													88.0	80.0	82.0					11																	70208475		2200	4294	6494	SO:0001583	missense	0			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2746G>A	11.37:g.70208475G>A	ENSP00000253925:p.Asp916Asn		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D916N	ENST00000253925.7	37	c.2746	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.514892	0.96402	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.50001	0.76;0.76	5.32	5.32	0.75619	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;D;D	0.83275	0.996;0.959;0.932	T	0.73020	-0.4114	10	0.87932	D	0	.	18.9937	0.92804	0.0:0.0:1.0:0.0	.	413;916;916	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	N	916;916;413	ENSP00000253925:D916N;ENSP00000374198:D916N	ENSP00000253925:D916N	D	+	1	0	PPFIA1	69886123	1.000000	0.71417	0.946000	0.38457	0.857000	0.48899	9.542000	0.98086	2.488000	0.83962	0.561000	0.74099	GAC	PPFIA1	-	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000131626		0.617	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1		0.00	37	0	G	NM_003626		70208475	+1			no_errors	ENST00000253925	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A
PPP1R18	170954	genome.wustl.edu	37	6	30652231	30652231	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:30652231C>T	ENST00000274853.3	-	1	3441	c.1565G>A	c.(1564-1566)aGc>aAc	p.S522N	PPP1R18_ENST00000399199.3_Missense_Mutation_p.S522N|PPP1R18_ENST00000488324.1_5'UTR	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	522						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GCAGCTGCGGCTGAGACGGAG	0.582																																																	0													57.0	61.0	60.0					6																	30652231		1222	2546	3768	SO:0001583	missense	0			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1565G>A	6.37:g.30652231C>T	ENSP00000274853:p.Ser522Asn		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	NULL	p.S522N	ENST00000274853.3	37	c.1565	CCDS43444.1	6	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567007	0.28003	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	T;T	0.24350	1.86;1.86	4.52	2.69	0.31865	.	0.284498	0.34133	N	0.004225	T	0.06280	0.0162	L	0.31926	0.97	0.26664	N	0.971851	B	0.21071	0.051	B	0.27262	0.078	T	0.35919	-0.9769	10	0.16896	T	0.51	-1.614	7.4108	0.27016	0.0:0.7946:0.0:0.2054	.	522	Q6NYC8	PPR18_HUMAN	N	522	ENSP00000274853:S522N;ENSP00000382150:S522N	ENSP00000274853:S522N	S	-	2	0	KIAA1949	30760210	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.219000	0.32479	1.122000	0.41944	0.655000	0.94253	AGC	PPP1R18	-	NULL	ENSG00000146112		0.582	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R18	HGNC	protein_coding	OTTHUMT00000076498.2	-	0.00	56	0	C	NM_133471		30652231	-1	tier1	-	no_errors	ENST00000274853	ensembl	human	known	74_37	missense	41.67	35	25	SNP	1.000	T
PPP5C	5536	genome.wustl.edu	37	19	46891917	46891917	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:46891917A>T	ENST00000012443.4	+	11	1387	c.1284A>T	c.(1282-1284)gaA>gaT	p.E428D	AC007193.8_ENST00000598616.1_RNA|PPP5C_ENST00000391919.1_Missense_Mutation_p.E300D	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	428	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GCAGCCACGAAGTCAAGGCCG	0.597																																																	0													119.0	100.0	107.0					19																	46891917		2203	4300	6503	SO:0001583	missense	0				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1284A>T	19.37:g.46891917A>T	ENSP00000012443:p.Glu428Asp		Q16722|Q53XV2	Missense_Mutation	SNP	pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.E428D	ENST00000012443.4	37	c.1284	CCDS12684.1	19	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060632	0.55432	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.62941	-0.01;-0.01	5.09	1.76	0.24704	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.85465	0.5703	H	0.99582	4.64	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.997	D	0.83369	0.0006	10	0.87932	D	0	-24.012	7.164	0.25679	0.3751:0.0:0.6249:0.0	.	428;428	B2R6R6;P53041	.;PPP5_HUMAN	D	428;415;300	ENSP00000012443:E428D;ENSP00000375786:E300D	ENSP00000012443:E428D	E	+	3	2	PPP5C	51583757	1.000000	0.71417	0.999000	0.59377	0.160000	0.22226	1.972000	0.40540	0.166000	0.19597	-0.252000	0.11476	GAA	PPP5C	-	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000011485		0.597	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2		0.00	51	0	A	NM_006247		46891917	+1			no_errors	ENST00000012443	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T
PRKAG2	51422	genome.wustl.edu	37	7	151262817	151262817	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:151262817A>T	ENST00000287878.4	-	12	1892	c.1388T>A	c.(1387-1389)gTg>gAg	p.V463E	PRKAG2_ENST00000418337.2_Missense_Mutation_p.V222E|PRKAG2_ENST00000392801.2_Missense_Mutation_p.V419E|PRKAG2_ENST00000492843.1_Missense_Mutation_p.V339E|PRKAG2_ENST00000433631.2_Missense_Mutation_p.V338E	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	463	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.V463G(1)|p.V338G(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TGACTCATCCACAACAGGCAG	0.443																																																	2	Substitution - Missense(2)	kidney(2)											207.0	176.0	187.0					7																	151262817		2203	4300	6503	SO:0001583	missense	0			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1388T>A	7.37:g.151262817A>T	ENSP00000287878:p.Val463Glu		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	pfam_CBS_dom,smart_CBS_dom	p.V463E	ENST00000287878.4	37	c.1388	CCDS5928.1	7	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951752	0.92660	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.993;0.997	D	0.99612	1.0981	10	0.87932	D	0	.	15.7905	0.78357	1.0:0.0:0.0:0.0	.	338;463	B7Z6X8;Q9UGJ0	.;AAKG2_HUMAN	E	222;463;339;338;419	ENSP00000387386:V222E;ENSP00000287878:V463E;ENSP00000419577:V339E;ENSP00000406544:V338E;ENSP00000376549:V419E	ENSP00000287878:V463E	V	-	2	0	PRKAG2	150893750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.999000	0.93557	2.324000	0.78689	0.533000	0.62120	GTG	PRKAG2	-	pfam_CBS_dom,smart_CBS_dom	ENSG00000106617		0.443	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG2	HGNC	protein_coding	OTTHUMT00000348440.2	-	0.00	54	0	A	NM_016203		151262817	-1	tier1	-	no_errors	ENST00000287878	ensembl	human	known	74_37	missense	21.35	70	19	SNP	1.000	T
PRSS30P	124221	genome.wustl.edu	37	16	2891192	2891192	+	RNA	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:2891192C>T	ENST00000475030.1	-	0	359									protease, serine, 30, pseudogene																		GCTGTGAGCACCCAGCGTGGG	0.667																																																	0																																												0					16p13.13	2012-12-07	2012-12-07	2010-04-21	ENSG00000172460	ENSG00000172460		"""Serine peptidases / Serine peptidases"""	28753	pseudogene	pseudogene			"""transmembrane protease, serine 8 homolog (mouse), pseudogene"", ""protease, serine, 30 homolog (mouse), pseudogene"""	TMPRSS8, TMPRSS8P		12477932	Standard	NR_026864		Approved	Disp, MGC5228	uc002crw.3		OTTHUMG00000128963		16.37:g.2891192C>T				RNA	SNP	-	NULL	ENST00000475030.1	37	NULL		16																																																																																			PRSS30P	-	-	ENSG00000172460		0.667	PRSS30P-003	KNOWN	basic	processed_transcript	PRSS30P	HGNC	pseudogene	OTTHUMT00000250948.2	-	0.00	110	0	C	NM_178453		2891192	-1	tier1	-	no_errors	ENST00000475030	ensembl	human	known	74_37	rna	16.67	60	12	SNP	1.000	T
IFT22	64792	genome.wustl.edu	37	7	100959718	100959718	+	Silent	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:100959718G>T	ENST00000315322.4	-	4	405	c.312C>A	c.(310-312)tcC>tcA	p.S104S	RABL5_ENST00000498704.2_Silent_p.S27S|RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000437644.2_Silent_p.S74S|RABL5_ENST00000517481.1_Silent_p.S27S	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		104					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					GGACAAAGCAGGAATACCACA	0.507																																																	0													207.0	176.0	186.0					7																	100959718		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000315322.4:c.312C>A	7.37:g.100959718G>T			Q49AG1|Q69YV5|Q9BSW4	Silent	SNP	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.S104	ENST00000315322.4	37	c.312	CCDS5719.1	7																																																																																			RABL5	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	ENSG00000128581		0.507	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABL5	HGNC	protein_coding	OTTHUMT00000347565.1	-	0.00	68	0	G			100959718	-1	tier1	-	no_errors	ENST00000315322	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.830	T
RAD51B	5890	genome.wustl.edu	37	14	68292187	68292187	+	Missense_Mutation	SNP	T	T	G	rs114131734	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:68292187T>G	ENST00000487270.1	+	3	139	c.91T>G	c.(91-93)Tta>Gta	p.L31V	RAD51B_ENST00000488612.1_Missense_Mutation_p.L31V|RAD51B_ENST00000471583.1_Missense_Mutation_p.L31V|RAD51B_ENST00000487861.1_Missense_Mutation_p.L31V|RAD51B_ENST00000390683.3_Missense_Mutation_p.L31V	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	31	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTAGGACTTTTTATGTCTTTC	0.383								Direct reversal of damage																																									0													118.0	113.0	115.0					14																	68292187		2203	4300	6503	SO:0001583	missense	0			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.91T>G	14.37:g.68292187T>G	ENSP00000419471:p.Leu31Val		O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.L31V	ENST00000487270.1	37	c.91	CCDS9789.1	14	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429171	0.62844	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000485181;ENST00000553334;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T;T;T	0.68181	0.94;0.94;0.94;0.94;0.94;-0.31;0.94	5.34	0.438	0.16560	.	0.000000	0.56097	D	0.000035	T	0.60753	0.2293	N	0.20986	0.625	0.34325	D	0.687016	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.924	D;D;D;D;D;P	0.85130	0.992;0.989;0.997;0.973;0.997;0.747	T	0.62656	-0.6808	10	0.06365	T	0.9	-1.3214	7.8995	0.29725	0.0:0.3568:0.0:0.6432	.	31;31;31;31;31;31	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	V	31	ENSP00000419881:L31V;ENSP00000418859:L31V;ENSP00000419471:L31V;ENSP00000420061:L31V;ENSP00000417948:L31V;ENSP00000452044:L31V;ENSP00000375101:L31V	ENSP00000343531:L31V	L	+	1	2	RAD51B	67361940	0.959000	0.32827	0.992000	0.48379	0.983000	0.72400	-0.056000	0.11787	-0.007000	0.14345	-0.263000	0.10527	TTA	RAD51B	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like	ENSG00000182185		0.383	RAD51B-004	KNOWN	basic|CCDS	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349063.1	-	0.00	55	0	T			68292187	+1	tier1	-	no_errors	ENST00000487270	ensembl	human	known	74_37	missense	22.95	47	14	SNP	0.999	G
RANBP2	5903	genome.wustl.edu	37	2	109384333	109384333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:109384333delT	ENST00000283195.6	+	20	7464	c.7338delT	c.(7336-7338)gatfs	p.D2446fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2446					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGGAAAAAGATTCTTTGATAA	0.388																																																	0													45.0	52.0	49.0					2																	109384333		1593	3224	4817	SO:0001589	frameshift_variant	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7338delT	2.37:g.109384333delT	ENSP00000283195:p.Asp2446fs		Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.S2447fs	ENST00000283195.6	37	c.7338	CCDS2079.1	2																																																																																			RANBP2	-	NULL	ENSG00000153201		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1		0.00	215	0	T	NM_006267		109384333	+1	tier1		no_errors	ENST00000283195	ensembl	human	known	74_37	frame_shift_del	24.63	153	50	DEL	0.148	-
RASGRF1	5923	genome.wustl.edu	37	15	79320164	79320164	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:79320164G>A	ENST00000419573.3	-	9	1574	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R434W	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	434					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGTTTTTCCGGATGTTCTCC	0.547																																																	0													245.0	197.0	214.0					15																	79320164		2196	4293	6489	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1300C>T	15.37:g.79320164G>A	ENSP00000405963:p.Arg434Trp		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R434W	ENST00000419573.3	37	c.1300	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181884	0.78677	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.32988	1.43	4.09	4.09	0.47781	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.81942	2.565	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.746;1.0	D;D;B;D	0.91635	0.999;0.999;0.176;0.999	T	0.63673	-0.6584	10	0.72032	D	0.01	.	13.9228	0.63942	0.0:0.0:1.0:0.0	.	434;434;434;434	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	W	434	ENSP00000405963:R434W	ENSP00000378224:R434W	R	-	1	2	RASGRF1	77107219	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.446000	0.44908	2.118000	0.64928	0.479000	0.44913	CGG	RASGRF1	-	superfamily_DH-domain	ENSG00000058335		0.547	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0.00	69	0	G	NM_002891		79320164	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	A
RB1	5925	genome.wustl.edu	37	13	48955538	48955538	+	Nonsense_Mutation	SNP	C	C	T	rs121913303		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:48955538C>T	ENST00000267163.4	+	17	1792	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	552	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R552*(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACATTTAGAACGATGTGAACA	0.323	R552*(NCIH1048_LUNG)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	28	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(5)	bone(11)|breast(5)|eye(4)|central_nervous_system(3)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	GRCh37	CM961229	RB1	M	rs121913303						85.0	79.0	81.0					13																	48955538		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1654C>T	13.37:g.48955538C>T	ENSP00000267163:p.Arg552*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R552*	ENST00000267163.4	37	c.1654	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	38	7.055045	0.98032	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	1.21	0.21127	.	0.199610	0.42548	D	0.000698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4955	0.38986	0.5195:0.4131:0.0:0.0674	.	.	.	.	X	531;552	.	ENSP00000267163:R552X	R	+	1	2	RB1	47853539	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	1.565000	0.36386	-0.113000	0.11958	0.650000	0.86243	CGA	RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	-	0.00	58	0	C			48955538	+1	tier1	rs121913303	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	32.35	23	11	SNP	1.000	T
RBM27	54439	genome.wustl.edu	37	5	145634538	145634538	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:145634538G>T	ENST00000265271.5	+	10	1643	c.1477G>T	c.(1477-1479)Gct>Tct	p.A493S	RBM27_ENST00000506502.1_Missense_Mutation_p.A438S	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	493					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACCCAGAAGCTCCTAGTAT	0.398																																																	0													106.0	93.0	97.0					5																	145634538		1568	3582	5150	SO:0001583	missense	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1477G>T	5.37:g.145634538G>T	ENSP00000265271:p.Ala493Ser		Q8IYW9	Missense_Mutation	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.A493S	ENST00000265271.5	37	c.1477	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175274	0.78564	.	.	ENSG00000091009	ENST00000265271	T	0.50001	0.76	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000002	T	0.55924	0.1951	N	0.24115	0.695	0.47778	D	0.999513	B;D	0.63880	0.128;0.993	B;D	0.72625	0.054;0.978	T	0.53927	-0.8369	10	0.33141	T	0.24	-14.1787	18.9047	0.92455	0.0:0.0:1.0:0.0	.	493;438	Q9P2N5;B3KY61	RBM27_HUMAN;.	S	493	ENSP00000265271:A493S	ENSP00000265271:A493S	A	+	1	0	RBM27	145614731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.709000	0.61867	2.542000	0.85734	0.650000	0.86243	GCT	RBM27	-	NULL	ENSG00000091009		0.398	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1		0.00	72	0	G	XM_291128		145634538	+1			no_errors	ENST00000265271	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
MFSD3	113655	genome.wustl.edu	37	8	145739026	145739026	+	IGR	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:145739026C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.R710H|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGTGTCCTCGCGCCGGTTGCA	0.612																																																	0													28.0	33.0	31.0					8																	145739026		2084	4212	6296	SO:0001628	intergenic_variant	0				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145739026C>T				Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.R710H	ENST00000301327.4	37	c.2129	CCDS6431.1	8																																																																																			RECQL4	-	superfamily_P-loop_NTPase,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000160957		0.612	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL4	HGNC	protein_coding	OTTHUMT00000382478.2	-	0.00	38	0	C	NM_138431		145739026	-1	tier1	-	no_errors	ENST00000428558	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.990	T
RERE	473	genome.wustl.edu	37	1	8421866	8421866	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:8421866G>T	ENST00000337907.3	-	18	2607	c.1973C>A	c.(1972-1974)aCg>aAg	p.T658K	RERE_ENST00000476556.1_Missense_Mutation_p.T104K|RERE_ENST00000400908.2_Missense_Mutation_p.T658K|RERE_ENST00000377464.1_Missense_Mutation_p.T390K|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	658					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGCCTCCTCCGTATCAGAGGC	0.537																																																	0													97.0	94.0	95.0					1																	8421866		2203	4300	6503	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1973C>A	1.37:g.8421866G>T	ENSP00000338629:p.Thr658Lys		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.T658K	ENST00000337907.3	37	c.1973	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785262	0.90282	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T;T	0.61158	0.13;3.46;1.87;0.13	5.44	5.44	0.79542	.	.	.	.	.	T	0.56819	0.2011	L	0.51422	1.61	0.54753	D	0.99998	P;B	0.37781	0.608;0.192	B;B	0.43155	0.41;0.158	T	0.50849	-0.8779	9	0.09338	T	0.73	-17.3289	18.2489	0.89996	0.0:0.0:1.0:0.0	.	390;658	B1AKN3;Q9P2R6	.;RERE_HUMAN	K	658;390;104;658;78	ENSP00000338629:T658K;ENSP00000366684:T390K;ENSP00000422246:T104K;ENSP00000383700:T658K	ENSP00000338629:T658K	T	-	2	0	RERE	8344453	1.000000	0.71417	0.527000	0.27925	0.934000	0.57294	7.810000	0.86072	2.576000	0.86940	0.561000	0.74099	ACG	RERE	-	pfam_Atrophin-like	ENSG00000142599		0.537	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1		0.00	52	0	G			8421866	-1			no_errors	ENST00000337907	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.992	T
RFTN1	23180	genome.wustl.edu	37	3	16419305	16419305	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:16419305A>C	ENST00000334133.4	-	5	1018	c.746T>G	c.(745-747)cTt>cGt	p.L249R	RFTN1_ENST00000432519.1_Missense_Mutation_p.L213R	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	249					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTGTGGTGAAAGTTCTCCACC	0.612																																																	0													64.0	67.0	66.0					3																	16419305		2203	4300	6503	SO:0001583	missense	0			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.746T>G	3.37:g.16419305A>C	ENSP00000334153:p.Leu249Arg		Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	NULL	p.L249R	ENST00000334133.4	37	c.746	CCDS33712.1	3	.	.	.	.	.	.	.	.	.	.	A	8.629	0.893119	0.17613	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.44881	1.58;1.58;0.91	4.52	-1.13	0.09775	.	5.291170	0.00166	N	0.000000	T	0.31199	0.0789	L	0.40543	1.245	0.09310	N	1	B;P	0.39157	0.004;0.662	B;B	0.36289	0.003;0.221	T	0.10590	-1.0623	10	0.23302	T	0.38	4.791	4.4063	0.11411	0.4788:0.3255:0.1958:0.0	.	213;249	G3XAJ6;Q14699	.;RFTN1_HUMAN	R	213;249;249	ENSP00000403926:L213R;ENSP00000334153:L249R;ENSP00000403997:L249R	ENSP00000334153:L249R	L	-	2	0	RFTN1	16394309	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.122000	0.15687	-0.264000	0.09365	0.459000	0.35465	CTT	RFTN1	-	NULL	ENSG00000131378		0.612	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFTN1	HGNC	protein_coding	OTTHUMT00000346908.1	-	0.00	47	0	A	NM_015150		16419305	-1	tier1	-	no_errors	ENST00000334133	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.000	C
RIMS1	22999	genome.wustl.edu	37	6	73110270	73110270	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:73110270G>C	ENST00000521978.1	+	34	4933	c.4933G>C	c.(4933-4935)Gaa>Caa	p.E1645Q	RIMS1_ENST00000491071.2_Missense_Mutation_p.E1434Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.E1244Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.E1428Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.E779Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.E1295Q|RIMS1_ENST00000264839.7_Missense_Mutation_p.E1494Q|RIMS1_ENST00000414192.2_Missense_Mutation_p.E172Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.E770Q|RIMS1_ENST00000538414.1_Missense_Mutation_p.E451Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.E713Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.E1428Q|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000401910.3_Missense_Mutation_p.E965Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.E1324Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1645					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTTGTTGGAAGAACTCGACCT	0.522																																																	0													149.0	154.0	153.0					6																	73110270		2125	4265	6390	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4933G>C	6.37:g.73110270G>C	ENSP00000428417:p.Glu1645Gln		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.E1645Q	ENST00000521978.1	37	c.4933	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.4|20.4|20.4	3.983381|3.983381|3.983381	0.74474|0.74474|0.74474	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000522211|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.77877|.|.	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13|.|.	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.|.	0.089808|.|.	0.46442|.|.	D|.|.	0.000285|.|.	T|T|T	0.70360|0.70360|0.70360	0.3215|0.3215|0.3215	M|M|M	0.69823|0.69823|0.69823	2.125|2.125|2.125	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;D;D;P;P;P;P;D;D;B;B;B|.|.	0.64830|.|.	0.006;0.0;0.961;0.994;0.62;0.87;0.914;0.955;0.966;0.967;0.01;0.189;0.087|.|.	B;B;P;P;B;B;P;P;P;D;B;B;B|.|.	0.64144|.|.	0.011;0.003;0.551;0.861;0.061;0.438;0.777;0.546;0.487;0.922;0.016;0.193;0.038|.|.	T|T|T	0.68899|0.68899|0.68899	-0.5287|-0.5287|-0.5287	10|5|5	0.59425|.|.	D|.|.	0.04|.|.	-23.932|-23.932|-23.932	19.1289|19.1289|19.1289	0.93397|0.93397|0.93397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	269;451;779;770;1494;965;1244;548;1324;1428;721;1434;1645|.|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.|.	Q|N|T	1434;1494;1434;1428;1324;1244;1494;1428;1324;1295;1244;1645;965;770;713;779;693;451;172|562|990	ENSP00000430101:E1434Q;ENSP00000275037:E1428Q;ENSP00000264839:E1494Q;ENSP00000429959:E1428Q;ENSP00000430408:E1324Q;ENSP00000430502:E1295Q;ENSP00000430932:E1244Q;ENSP00000428417:E1645Q;ENSP00000385649:E965Q;ENSP00000428328:E770Q;ENSP00000411235:E713Q;ENSP00000428367:E779Q;ENSP00000359448:E693Q;ENSP00000439730:E451Q;ENSP00000402273:E172Q|.|.	ENSP00000264839:E1494Q|.|.	E|K|R	+|+|+	1|3|2	0|2|0	RIMS1|RIMS1|RIMS1	73166991|73166991|73166991	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	9.735000|9.735000|9.735000	0.98825|0.98825|0.98825	2.563000|2.563000|2.563000	0.86464|0.86464|0.86464	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA	RIMS1	-	superfamily_C2_dom,smart_C2_dom	ENSG00000079841		0.522	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	42	0	G			73110270	+1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	7.79	71	6	SNP	1.000	C
RRAGB	10325	genome.wustl.edu	37	X	55757975	55757975	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:55757975T>G	ENST00000262850.7	+	6	999	c.556T>G	c.(556-558)Ttg>Gtg	p.L186V	RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000374941.4_Missense_Mutation_p.L158V	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						AATATTTTGCTTGGTACACAA	0.448																																																	0													48.0	38.0	41.0					X																	55757975		2202	4300	6502	SO:0001583	missense	0			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.556T>G	X.37:g.55757975T>G	ENSP00000262850:p.Leu186Val			Missense_Mutation	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	p.L186V	ENST00000262850.7	37	c.556	CCDS14372.1	X	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274480	0.59649	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.72835	-0.69;-0.56	4.74	2.03	0.26663	.	0.000000	0.64402	D	0.000002	T	0.78349	0.4269	M	0.67700	2.07	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76372	-0.2983	10	0.87932	D	0	-9.4462	6.0799	0.19935	0.0:0.2937:0.0:0.7063	.	158;186	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	V	158;120;186	ENSP00000364077:L158V;ENSP00000410630:L120V	ENSP00000262850:L186V	L	+	1	2	RRAGB	55774700	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.024000	0.49674	0.609000	0.30018	-0.424000	0.05967	TTG	RRAGB	-	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	ENSG00000083750		0.448	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGB	HGNC	protein_coding	OTTHUMT00000056878.1	-	0.00	88	0	T	NM_016656		55757975	+1	tier1	-	no_errors	ENST00000262850	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	G
SARDH	1757	genome.wustl.edu	37	9	136536779	136536779	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:136536779C>T	ENST00000371872.4	-	18	2461	c.2204G>A	c.(2203-2205)tGg>tAg	p.W735*	SARDH_ENST00000371868.1_Nonsense_Mutation_p.W163*|SARDH_ENST00000439388.1_Nonsense_Mutation_p.W735*|SARDH_ENST00000422262.2_Nonsense_Mutation_p.W567*	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	735					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTGCAGCTCCCAGCCCAGCTC	0.642																																																	0													51.0	36.0	41.0					9																	136536779		2196	4291	6487	SO:0001587	stop_gained	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2204G>A	9.37:g.136536779C>T	ENSP00000360938:p.Trp735*		B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Nonsense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.W735*	ENST00000371872.4	37	c.2204	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	C	41	8.835345	0.98972	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	.	.	.	4.97	4.97	0.65823	.	0.059774	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4789	18.2398	0.89963	0.0:1.0:0.0:0.0	.	.	.	.	X	735;163;735;567	.	ENSP00000360934:W163X	W	-	2	0	SARDH	135526600	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.559000	0.67326	2.299000	0.77371	0.655000	0.94253	TGG	SARDH	-	pfam_GCV_T_N	ENSG00000123453		0.642	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	-	0.00	46	0	C			136536779	-1	tier1	-	no_errors	ENST00000371872	ensembl	human	known	74_37	nonsense	14.81	46	8	SNP	1.000	T
SCN9A	6335	genome.wustl.edu	37	2	167144975	167144975	+	Missense_Mutation	SNP	C	C	T	rs367556839		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:167144975C>T	ENST00000409435.1	-	9	1285	c.1286G>A	c.(1285-1287)cGt>cAt	p.R429H	SCN9A_ENST00000303354.6_Missense_Mutation_p.R430H|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R429H|SCN9A_ENST00000375387.4_Missense_Mutation_p.R430H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	429					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTTTAAGACGGTCTAACAT	0.388																																																	0								C	HIS/ARG	1,3679		0,1,1839	139.0	148.0	146.0		1286	-1.6	0.0	2		146	0,8184		0,0,4092	no	missense	SCN9A	NM_002977.3	29	0,1,5931	TT,TC,CC		0.0,0.0272,0.0084	possibly-damaging	429/1978	167144975	1,11863	1840	4092	5932	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1286G>A	2.37:g.167144975C>T	ENSP00000386330:p.Arg429His		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R430H	ENST00000409435.1	37	c.1289	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489889	0.44249	2.72E-4	0.0	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;T;T	0.96232	-3.92;-3.95;-3.95;-3.95;-0.39;-0.39	5.74	-1.57	0.08506	.	0.609303	0.14906	N	0.291557	D	0.89705	0.6792	N	0.20685	0.6	0.29646	N	0.844368	P;P;B	0.44309	0.832;0.832;0.042	B;B;B	0.42319	0.383;0.172;0.022	D	0.85256	0.1047	10	0.48119	T	0.1	.	3.8503	0.08953	0.2691:0.2931:0.0:0.4378	.	429;429;430	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	H	429;430;430;429;294;294	ENSP00000386306:R429H;ENSP00000364536:R430H;ENSP00000304748:R430H;ENSP00000386330:R429H;ENSP00000413212:R294H;ENSP00000393141:R294H	ENSP00000304748:R430H	R	-	2	0	SCN9A	166853221	0.903000	0.30736	0.031000	0.17742	0.911000	0.54048	1.471000	0.35365	-0.120000	0.11809	-0.913000	0.02753	CGT	SCN9A	-	NULL	ENSG00000169432		0.388	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0.00	64	0	C	NM_002977		167144975	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	43.48	26	20	SNP	0.509	T
SCRT2	85508	genome.wustl.edu	37	20	644465	644465	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr20:644465G>C	ENST00000246104.6	-	2	1351	c.774C>G	c.(772-774)caC>caG	p.H258Q	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	258					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			kidney(1)|liver(1)|ovary(1)	3						GCGTCTGCATGTGCGCGCGCA	0.677																																																	0													15.0	15.0	15.0					20																	644465		2198	4291	6489	SO:0001583	missense	0				CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"""Zinc fingers, C2H2-type"""	15952	protein-coding gene	gene with protein product			"""scratch (drosophila homolog) 2, zinc finger protein"", ""scratch homolog 2, zinc finger protein (Drosophila)"""			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.774C>G	20.37:g.644465G>C	ENSP00000246104:p.His258Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H258Q	ENST00000246104.6	37	c.774	CCDS13006.1	20	.	.	.	.	.	.	.	.	.	.	g	21.9	4.210599	0.79240	.	.	ENSG00000215397	ENST00000246104	D	0.86865	-2.18	3.66	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	D	0.94089	0.8105	M	0.93150	3.385	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.93569	0.6902	10	0.87932	D	0	-15.6037	9.5993	0.39593	0.1075:0.0:0.8925:0.0	.	258	Q9NQ03	SCRT2_HUMAN	Q	258	ENSP00000246104:H258Q	ENSP00000246104:H258Q	H	-	3	2	SCRT2	592465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.939000	0.70179	0.727000	0.32360	0.457000	0.33378	CAC	SCRT2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000215397		0.677	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRT2	HGNC	protein_coding	OTTHUMT00000253383.2		0.00	11	0	G	NM_033129		644465	-1			no_errors	ENST00000246104	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	C
SENP6	26054	genome.wustl.edu	37	6	76385617	76385617	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:76385617G>C	ENST00000447266.2	+	13	1946	c.1468G>C	c.(1468-1470)Gat>Cat	p.D490H	SENP6_ENST00000327284.8_Missense_Mutation_p.D483H|SENP6_ENST00000370010.2_Missense_Mutation_p.D483H|SENP6_ENST00000541192.1_Missense_Mutation_p.D86H|SENP6_ENST00000370014.3_Missense_Mutation_p.D490H	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	490					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAATACCTCTGATCTAACTAA	0.348																																																	0													71.0	67.0	68.0					6																	76385617		1822	4066	5888	SO:0001583	missense	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1468G>C	6.37:g.76385617G>C	ENSP00000402527:p.Asp490His		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.D490H	ENST00000447266.2	37	c.1468	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683395	0.47991	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.34667	2.57;2.56;1.35;2.57;1.35;1.37	5.27	4.39	0.52855	.	0.149471	0.64402	N	0.000017	T	0.11024	0.0269	N	0.19112	0.55	0.39114	D	0.961533	B;B;B	0.16802	0.019;0.004;0.003	B;B;B	0.18561	0.022;0.004;0.011	T	0.07462	-1.0771	10	0.13108	T	0.6	-12.6199	15.8956	0.79333	0.0:0.1358:0.8642:0.0	.	483;490;483	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	H	483;490;339;483;490;380;86	ENSP00000359027:D483H;ENSP00000359031:D490H;ENSP00000321820:D483H;ENSP00000402527:D490H;ENSP00000391426:D380H;ENSP00000441715:D86H	ENSP00000321820:D483H	D	+	1	0	SENP6	76442337	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.790000	0.69038	1.214000	0.43395	0.650000	0.86243	GAT	SENP6	-	NULL	ENSG00000112701		0.348	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2		0.00	48	0	G	NM_015571		76385617	+1			no_errors	ENST00000370014	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	C
SERPINA7	6906	genome.wustl.edu	37	X	105280573	105280573	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:105280573A>T	ENST00000327674.4	-	1	812	c.477T>A	c.(475-477)ttT>ttA	p.F159L	SERPINA7_ENST00000372563.1_Missense_Mutation_p.F159L|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	159					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGTCGGTAGAAAAGACTTCAG	0.438																																																	0													164.0	153.0	156.0					X																	105280573		2203	4300	6503	SO:0001583	missense	0			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.477T>A	X.37:g.105280573A>T	ENSP00000329374:p.Phe159Leu		D3DUX1	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F159L	ENST00000327674.4	37	c.477	CCDS14518.1	X	.	.	.	.	.	.	.	.	.	.	A	9.389	1.074956	0.20227	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84070	-1.8;-1.8	4.7	-4.14	0.03892	Serpin domain (3);	0.156200	0.44688	N	0.000436	T	0.71634	0.3363	M	0.65677	2.01	0.28461	N	0.915896	B	0.31435	0.323	B	0.31869	0.137	T	0.60657	-0.7220	10	0.45353	T	0.12	.	0.1626	0.00105	0.3229:0.2392:0.1683:0.2696	.	159	P05543	THBG_HUMAN	L	159	ENSP00000329374:F159L;ENSP00000361644:F159L	ENSP00000329374:F159L	F	-	3	2	SERPINA7	105167229	0.787000	0.28750	0.017000	0.16124	0.349000	0.29174	0.935000	0.28924	-0.744000	0.04778	-0.377000	0.06932	TTT	SERPINA7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000123561		0.438	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	-	0.00	59	0	A	NM_000354		105280573	-1	tier1	-	no_errors	ENST00000327674	ensembl	human	known	74_37	missense	30.43	32	14	SNP	0.576	T
SIK3	23387	genome.wustl.edu	37	11	116730204	116730204	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:116730204G>T	ENST00000292055.4	-	19	2259	c.2224C>A	c.(2224-2226)Cag>Aag	p.Q742K	SIK3_ENST00000375288.1_Missense_Mutation_p.Q137K|SIK3_ENST00000375300.1_Missense_Mutation_p.Q800K|SIK3_ENST00000434315.2_Missense_Mutation_p.Q641K|SIK3_ENST00000542607.1_Missense_Mutation_p.Q742K|SIK3_ENST00000446921.2_Missense_Mutation_p.Q800K|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	742	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGAGCAGGCTGCTGCATACCC	0.567											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													104.0	97.0	99.0					11																	116730204		2201	4296	6497	SO:0001583	missense	0			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2224C>A	11.37:g.116730204G>T	ENSP00000292055:p.Gln742Lys	1475	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.Q800K	ENST00000292055.4	37	c.2398	CCDS8379.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.729907|4.729907	0.89390|0.89390	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|T;T;T;T;T	.|0.76316	.|-0.99;-1.01;0.92;-0.87;-0.53	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.000000	.|0.39341	.|U	.|0.001389	T|T	0.75568|0.75568	0.3867|0.3867	L|L	0.29908|0.29908	0.895|0.895	0.50632|0.50632	D|D	0.999886|0.999886	.|P;D;D;D;P	.|0.59357	.|0.955;0.985;0.967;0.985;0.873	.|P;P;B;P;B	.|0.49276	.|0.605;0.48;0.396;0.48;0.359	T|T	0.79722|0.79722	-0.1684|-0.1684	5|10	.|0.72032	.|D	.|0.01	.|.	18.2702|18.2702	0.90065|0.90065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|742;742;641;742;137	.|Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.|.;.;.;SIK3_HUMAN;.	E|K	841;764|800;742;137;742;641	.|ENSP00000364449:Q800K;ENSP00000292055:Q742K;ENSP00000364437:Q137K;ENSP00000438108:Q742K;ENSP00000415873:Q641K	.|ENSP00000292055:Q742K	A|Q	-|-	2|1	0|0	SIK3|SIK3	116235414|116235414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.583000|4.583000	0.60964|0.60964	2.527000|2.527000	0.85204|0.85204	0.561000|0.561000	0.74099|0.74099	GCA|CAG	SIK3	-	NULL	ENSG00000160584		0.567	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding			0.00	48	0	G	NM_025164		116730204	-1			no_errors	ENST00000375300	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T
SIK3	23387	genome.wustl.edu	37	11	116744228	116744228	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:116744228C>T	ENST00000292055.4	-	13	1567	c.1532G>A	c.(1531-1533)cGg>cAg	p.R511Q	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.R569Q|SIK3_ENST00000434315.2_Missense_Mutation_p.R410Q|SIK3_ENST00000542607.1_Missense_Mutation_p.R463Q|SIK3_ENST00000446921.2_Missense_Mutation_p.R521Q	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	511					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AGAGGGTCCCCGTGGGCGCTT	0.572																																																	0													58.0	52.0	54.0					11																	116744228		2201	4296	6497	SO:0001583	missense	0			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1532G>A	11.37:g.116744228C>T	ENSP00000292055:p.Arg511Gln		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R569Q	ENST00000292055.4	37	c.1706	CCDS8379.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.888705	0.97068	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	T;T;T;T	0.73152	-0.69;-0.72;-0.67;-0.3	5.57	5.57	0.84162	Protein kinase-like domain (1);	0.000000	0.37304	U	0.002146	T	0.81029	0.4738	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	1.0;0.985;1.0	D;B;D	0.83275	0.996;0.366;0.963	T	0.81826	-0.0754	10	0.87932	D	0	.	19.8929	0.96937	0.0:1.0:0.0:0.0	.	463;410;511	A1A5A8;A1A5A9;Q9Y2K2	.;.;SIK3_HUMAN	Q	569;511;463;410	ENSP00000364449:R569Q;ENSP00000292055:R511Q;ENSP00000438108:R463Q;ENSP00000415873:R410Q	ENSP00000292055:R511Q	R	-	2	0	SIK3	116249438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.228000	0.78079	2.772000	0.95346	0.650000	0.86243	CGG	SIK3	-	NULL	ENSG00000160584		0.572	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding		-	0.00	56	0	C	NM_025164		116744228	-1	tier1	-	no_errors	ENST00000375300	ensembl	human	known	74_37	missense	41.38	17	12	SNP	1.000	T
SKI	6497	genome.wustl.edu	37	1	2235375	2235375	+	Silent	SNP	C	C	T	rs139034124	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:2235375C>T	ENST00000378536.4	+	4	1380	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	436					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CTCCGTGTGCCGCCGCCGTCT	0.692													C|||	6	0.00119808	0.0045	0.0	5008	,	,		10711	0.0		0.0	False		,,,				2504	0.0				Ovarian(177;144 1678 13697 20086 27838 40755)												0								C		5,4365		0,5,2180	11.0	15.0	14.0		1308	2.2	0.0	1	dbSNP_134	14	2,8542		0,2,4270	no	coding-synonymous	SKI	NM_003036.3		0,7,6450	TT,TC,CC		0.0234,0.1144,0.0542		436/729	2235375	7,12907	2185	4272	6457	SO:0001819	synonymous_variant	0			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1308C>T	1.37:g.2235375C>T			Q5SYT7	Silent	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.A436	ENST00000378536.4	37	c.1308	CCDS39.1	1																																																																																			SKI	-	NULL	ENSG00000157933		0.692	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1	-	0.00	49	0	C	NM_003036		2235375	+1	tier1	rs139034124	no_errors	ENST00000378536	ensembl	human	known	74_37	silent	35.00	26	14	SNP	0.134	T
SLC12A1	6557	genome.wustl.edu	37	15	48548097	48548097	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:48548097A>C	ENST00000558405.1	+	15	2046	c.2032A>C	c.(2032-2034)Aaa>Caa	p.K678Q	SLC12A1_ENST00000396577.3_Missense_Mutation_p.K678Q|SLC12A1_ENST00000380993.3_Missense_Mutation_p.K678Q			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	678					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGACCACGTAAAAAACTTCAG	0.453																																																	0													63.0	53.0	56.0					15																	48548097		2198	4297	6495	SO:0001583	missense	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2032A>C	15.37:g.48548097A>C	ENSP00000453409:p.Lys678Gln		A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.K678Q	ENST00000558405.1	37	c.2032	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908737	0.92107	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000546071	D;D	0.99176	-5.52;-5.52	6.06	6.06	0.98353	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97660	1.0160	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	678;678	E9PDW4;Q13621	.;S12A1_HUMAN	Q	491;678;678;72	ENSP00000370381:K678Q;ENSP00000379822:K678Q	ENSP00000370381:K678Q	K	+	1	0	SLC12A1	46335389	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.287000	0.95975	2.324000	0.78689	0.533000	0.62120	AAA	SLC12A1	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.453	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0.00	81	0	A			48548097	+1	tier1	-	no_errors	ENST00000380993	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	C
SLC14A1	6563	genome.wustl.edu	37	18	43319149	43319149	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr18:43319149G>A	ENST00000321925.4	+	7	917	c.685G>A	c.(685-687)Gga>Aga	p.G229R	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591541.1_5'Flank|SLC14A1_ENST00000589700.1_Intron|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000415427.3_Missense_Mutation_p.G285R|SLC14A1_ENST00000436407.3_Missense_Mutation_p.G285R|SLC14A1_ENST00000402943.2_Missense_Mutation_p.G124R|SLC14A1_ENST00000586142.1_Missense_Mutation_p.G229R|SLC14A1_ENST00000535474.1_Missense_Mutation_p.G97R|SLC14A1_ENST00000502059.2_Missense_Mutation_p.G121R	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	229					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TATACCAGTGGGAGTTGGTCA	0.463																																																	0													152.0	156.0	155.0					18																	43319149		2203	4300	6503	SO:0001583	missense	0			BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.685G>A	18.37:g.43319149G>A	ENSP00000318546:p.Gly229Arg		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	pfam_Urea_transporter	p.G285R	ENST00000321925.4	37	c.853	CCDS11925.1	18	.	.	.	.	.	.	.	.	.	.	g	27.9	4.877133	0.91664	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	D	0.86477	0.5942	H	0.95294	3.65	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.796	D;D;P	0.97110	1.0;0.997;0.859	D	0.89538	0.3790	10	0.87932	D	0	-11.7324	20.264	0.98458	0.0:0.0:1.0:0.0	.	285;121;229	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	R	229;285;121;124;97;285	ENSP00000318546:G229R;ENSP00000412309:G285R;ENSP00000442180:G121R;ENSP00000385320:G124R;ENSP00000441998:G97R;ENSP00000390637:G285R	ENSP00000318546:G229R	G	+	1	0	SLC14A1	41573147	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	9.172000	0.94808	2.785000	0.95823	0.645000	0.84053	GGA	SLC14A1	-	pfam_Urea_transporter	ENSG00000141469		0.463	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC14A1	HGNC	protein_coding	OTTHUMT00000255860.2	-	0.00	72	0	G	NM_015865		43319149	+1	tier1	-	no_errors	ENST00000415427	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	A
SLC22A13	9390	genome.wustl.edu	37	3	38317828	38317828	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:38317828G>A	ENST00000311856.4	+	8	1337	c.1288G>A	c.(1288-1290)Gct>Act	p.A430T		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	430					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GATGGCCACAGCTGCTGCCTT	0.597																																																	0													148.0	119.0	129.0					3																	38317828		2203	4300	6503	SO:0001583	missense	0			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1288G>A	3.37:g.38317828G>A	ENSP00000310241:p.Ala430Thr		B2RCV9|Q8IYG1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A430T	ENST00000311856.4	37	c.1288	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	G	0.975	-0.698924	0.03279	.	.	ENSG00000172940	ENST00000311856	T	0.74947	-0.89	4.8	-3.51	0.04696	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.531595	0.21987	N	0.066207	T	0.48003	0.1476	N	0.17723	0.515	0.26478	N	0.975152	B;B	0.22080	0.032;0.064	B;B	0.27262	0.074;0.078	T	0.47983	-0.9074	10	0.02654	T	1	.	7.3642	0.26764	0.1713:0.0:0.2528:0.5759	.	430;430	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	T	430	ENSP00000310241:A430T	ENSP00000310241:A430T	A	+	1	0	SLC22A13	38292832	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.050000	0.14120	-0.329000	0.08527	-0.989000	0.02550	GCT	SLC22A13	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000172940		0.597	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	HGNC	protein_coding	OTTHUMT00000253746.2	-	0.00	83	0	G	NM_004256		38317828	+1	tier1	-	no_errors	ENST00000311856	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.000	A
SLC25A1	6576	genome.wustl.edu	37	22	19164397	19164397	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr22:19164397C>T	ENST00000215882.5	-	6	749	c.593G>A	c.(592-594)cGc>cAc	p.R198H	CLTCL1_ENST00000442042.2_5'Flank|SLC25A1_ENST00000461267.1_5'UTR|SLC25A1_ENST00000451283.1_Missense_Mutation_p.R95H	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	198					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|citrate transport (GO:0015746)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	citrate transmembrane transporter activity (GO:0015137)			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		GACGAAGAAGCGGATGGCCTG	0.642																																																	0													90.0	80.0	84.0					22																	19164397		2203	4300	6503	SO:0001583	missense	0			U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075		"""Solute carriers"""	10979	protein-coding gene	gene with protein product		190315	"""solute carrier family 20 (mitochondrial citrate transporter), member 3"""	SLC20A3		8666394, 9254007	Standard	NM_001256534		Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.593G>A	22.37:g.19164397C>T	ENSP00000215882:p.Arg198His		A8K8E8|Q9BSK6	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.R198H	ENST00000215882.5	37	c.593	CCDS13758.1	22	.	.	.	.	.	.	.	.	.	.	C	37	6.366663	0.97511	.	.	ENSG00000100075	ENST00000215882;ENST00000451283	T;T	0.78364	-1.17;-1.17	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93184	0.6577	10	0.66056	D	0.02	-0.5499	19.3447	0.94358	0.0:1.0:0.0:0.0	.	205;198	D9HTE9;P53007	.;TXTP_HUMAN	H	198;95	ENSP00000215882:R198H;ENSP00000401480:R95H	ENSP00000215882:R198H	R	-	2	0	SLC25A1	17544397	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.768000	0.85345	2.557000	0.86248	0.462000	0.41574	CGC	SLC25A1	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000100075		0.642	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A1	HGNC	protein_coding	OTTHUMT00000316441.1		0.00	76	0	C	NM_005984		19164397	-1			no_errors	ENST00000215882	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
SLC35F3	148641	genome.wustl.edu	37	1	234444886	234444886	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:234444886G>T	ENST00000366617.3	+	3	669	c.441G>T	c.(439-441)ttG>ttT	p.L147F	MIR4671_ENST00000583284.1_RNA|SLC35F3_ENST00000366618.3_Missense_Mutation_p.L216F			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	147					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCTTGACTTTGAAGGTGTTTT	0.388																																																	0													104.0	98.0	100.0					1																	234444886		2203	4300	6503	SO:0001583	missense	0				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.441G>T	1.37:g.234444886G>T	ENSP00000355576:p.Leu147Phe		Q5TDD6|Q8N9C9	Missense_Mutation	SNP	pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6	p.L147F	ENST00000366617.3	37	c.441		1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654747	0.67472	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.52057	0.68;0.68	5.73	5.73	0.89815	.	0.210963	0.43747	D	0.000531	T	0.45337	0.1337	L	0.41824	1.3	0.47698	D	0.999496	B;P	0.36909	0.317;0.573	B;B	0.42827	0.399;0.278	T	0.32107	-0.9919	10	0.36615	T	0.2	-24.4036	13.1283	0.59368	0.073:0.0:0.9269:0.0	.	147;216	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	F	216;147	ENSP00000355577:L216F;ENSP00000355576:L147F	ENSP00000355576:L147F	L	+	3	2	SLC35F3	232511509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.859000	0.55987	2.716000	0.92895	0.655000	0.94253	TTG	SLC35F3	-	NULL	ENSG00000183780		0.388	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	SLC35F3	HGNC	protein_coding	OTTHUMT00000128322.1		0.00	57	0	G	NM_173508		234444886	+1			no_errors	ENST00000366617	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
SLC35F6	54978	genome.wustl.edu	37	2	26999241	26999241	+	Splice_Site	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:26999241G>T	ENST00000344420.5	+	5	599	c.537G>T	c.(535-537)ggG>ggT	p.G179G	SLC35F6_ENST00000482746.1_Intron|SLC35F6_ENST00000416475.2_Splice_Site_p.G96G|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	179					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											TCCCCACAGGGGACCTGTTGA	0.592																																																	0													91.0	74.0	80.0					2																	26999241		2203	4300	6503	SO:0001630	splice_region_variant	0			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.536-1G>T	2.37:g.26999241G>T			D6W543|Q53GK2|Q8NBX6|Q9NWX0	Silent	SNP	pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436	p.G179	ENST00000344420.5	37	c.537	CCDS1728.1	2																																																																																			SLC35F6	-	pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UCP036436	ENSG00000213699		0.592	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F6	HGNC	protein_coding	OTTHUMT00000250187.2		0.00	67	0	G	NM_017877	Silent	26999241	+1			no_errors	ENST00000344420	ensembl	human	known	74_37	silent	9.09	40	4	SNP	1.000	T
SLC36A2	153201	genome.wustl.edu	37	5	150701706	150701706	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:150701706G>T	ENST00000335244.4	-	9	1210	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	SLC36A2_ENST00000450886.1_Missense_Mutation_p.P85T|SLC36A2_ENST00000521967.1_Missense_Mutation_p.P361T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	361					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	ATTTCTGCAGGGACGTAGAAC	0.557																																																	0													151.0	136.0	141.0					5																	150701706		2203	4300	6503	SO:0001583	missense	0			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1081C>A	5.37:g.150701706G>T	ENSP00000334223:p.Pro361Thr		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.P361T	ENST00000335244.4	37	c.1081	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808543	0.70797	.	.	ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967	T;T;T	0.02140	4.43;4.43;4.43	4.76	4.76	0.60689	.	0.053148	0.85682	D	0.000000	T	0.11281	0.0275	M	0.74647	2.275	0.52501	D	0.999958	D;P	0.76494	0.999;0.942	D;P	0.74023	0.982;0.855	T	0.00211	-1.1915	10	0.52906	T	0.07	-14.3751	13.9906	0.64364	0.0:0.1515:0.8484:0.0	.	361;361	E5RJJ5;Q495M3	.;S36A2_HUMAN	T	361;85;361	ENSP00000334223:P361T;ENSP00000399479:P85T;ENSP00000430535:P361T	ENSP00000334223:P361T	P	-	1	0	SLC36A2	150681899	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.145000	0.58065	2.621000	0.88768	0.563000	0.77884	CCT	SLC36A2	-	pfam_AA_transpt_TM	ENSG00000186335		0.557	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	-	0.00	55	0	G			150701706	-1	tier1	-	no_errors	ENST00000335244	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
SLC45A4	57210	genome.wustl.edu	37	8	142228285	142228285	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:142228285C>T	ENST00000024061.3	-	4	1608	c.1301G>A	c.(1300-1302)aGt>aAt	p.S434N	SLC45A4_ENST00000519067.1_Missense_Mutation_p.S434N|SLC45A4_ENST00000433583.2_Missense_Mutation_p.S427N|SLC45A4_ENST00000517878.1_Missense_Mutation_p.S485N	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCCCTCCTCACTCTCGGTGTC	0.682																																																	0													60.0	52.0	54.0					8																	142228285		2203	4300	6503	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1301G>A	8.37:g.142228285C>T	ENSP00000024061:p.Ser434Asn		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.S485N	ENST00000024061.3	37	c.1454	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899778	0.33535	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.07	5.07	0.68467	.	0.183328	0.64402	D	0.000009	T	0.78097	0.4230	M	0.68952	2.095	0.58432	D	0.999999	B;B;B	0.25272	0.074;0.122;0.061	B;B;B	0.27608	0.02;0.081;0.045	T	0.75036	-0.3459	10	0.38643	T	0.18	-31.3795	18.8194	0.92090	0.0:1.0:0.0:0.0	.	485;434;434	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	N	434;485;427;434	ENSP00000429059:S434N;ENSP00000428137:S485N;ENSP00000400799:S427N;ENSP00000024061:S434N	ENSP00000024061:S434N	S	-	2	0	SLC45A4	142297467	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	5.277000	0.65586	2.535000	0.85469	0.561000	0.74099	AGT	SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.682	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	-	0.00	26	0	C	XM_050325		142228285	-1	tier1	-	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	T
SLC5A8	160728	genome.wustl.edu	37	12	101581192	101581192	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:101581192G>T	ENST00000536262.2	-	7	1493	c.935C>A	c.(934-936)aCa>aAa	p.T312K		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTCTTGGCTGTCCAAGGATC	0.438																																					GBM(60;420 1056 13605 22380 47675)												0													118.0	109.0	112.0					12																	101581192		2203	4300	6503	SO:0001583	missense	0			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.935C>A	12.37:g.101581192G>T	ENSP00000445340:p.Thr312Lys			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.T312K	ENST00000536262.2	37	c.935	CCDS9080.1	12	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693176	0.88735	.	.	ENSG00000256870	ENST00000536262	D	0.87966	-2.32	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	L	0.56396	1.775	0.80722	D	1	D	0.54601	0.967	P	0.58391	0.838	D	0.90280	0.4314	10	0.41790	T	0.15	.	19.0605	0.93091	0.0:0.0:1.0:0.0	.	312	Q8N695	SC5A8_HUMAN	K	312	ENSP00000445340:T312K	ENSP00000445340:T312K	T	-	2	0	SLC5A8	100105323	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.807000	0.75201	2.496000	0.84212	0.460000	0.39030	ACA	SLC5A8	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000256870		0.438	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1		0.00	71	0	G	NM_145913		101581192	-1			no_errors	ENST00000536262	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T
SLC6A19	340024	genome.wustl.edu	37	5	1212593	1212593	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:1212593C>T	ENST00000304460.10	+	4	713	c.657C>T	c.(655-657)acC>acT	p.T219T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	219					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCGAGACCACCGGGAAGGTAC	0.677																																																	0													71.0	69.0	70.0					5																	1212593		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.657C>T	5.37:g.1212593C>T			A8K446	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.R189W	ENST00000304460.10	37	c.565	CCDS34130.1	5																																																																																			SLC6A19	-	NULL	ENSG00000174358		0.677	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1		0.00	39	0	C	XM_291120		1212593	+1			no_errors	ENST00000515652	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.002	T
SLC9C1	285335	genome.wustl.edu	37	3	111888112	111888112	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:111888112G>T	ENST00000305815.5	-	24	3235	c.2983C>A	c.(2983-2985)Caa>Aaa	p.Q995K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.Q947K	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	995					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CACATTTTTTGTTTAATGAGA	0.333																																																	0													103.0	100.0	101.0					3																	111888112		2203	4300	6503	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2983C>A	3.37:g.111888112G>T	ENSP00000306627:p.Gln995Lys		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.Q995K	ENST00000305815.5	37	c.2983	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359582	0.24598	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.39229	1.09;1.09	5.74	-0.627	0.11541	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.563805	0.17347	N	0.177553	T	0.16896	0.0406	N	0.08118	0	0.09310	N	0.999999	B;B	0.18166	0.018;0.026	B;B	0.19666	0.026;0.006	T	0.10200	-1.0640	10	0.41790	T	0.15	0.1652	1.2833	0.02045	0.395:0.3187:0.1296:0.1567	.	947;995	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	K	995;947	ENSP00000306627:Q995K;ENSP00000420688:Q947K	ENSP00000306627:Q995K	Q	-	1	0	SLC9A10	113370802	0.997000	0.39634	0.068000	0.19968	0.390000	0.30446	1.311000	0.33562	-0.330000	0.08514	0.536000	0.68110	CAA	SLC9C1	-	superfamily_cNMP-bd-like	ENSG00000172139		0.333	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	-	0.00	47	0	G	NM_183061		111888112	-1	tier1	-	no_errors	ENST00000305815	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.614	T
SLCO1B1	10599	genome.wustl.edu	37	12	21325664	21325664	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:21325664A>G	ENST00000256958.2	+	3	261	c.165A>G	c.(163-165)atA>atG	p.I55M		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	55					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TCATTCATATAGAACGGAGAT	0.328																																																	0													151.0	140.0	143.0					12																	21325664		2203	4298	6501	SO:0001583	missense	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.165A>G	12.37:g.21325664A>G	ENSP00000256958:p.Ile55Met		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.I55M	ENST00000256958.2	37	c.165	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479650	0.44044	.	.	ENSG00000134538	ENST00000256958	T	0.55930	0.49	3.36	0.689	0.18033	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.89163	3.01	0.39554	D	0.969027	D	0.76494	0.999	D	0.78314	0.991	T	0.67169	-0.5738	10	0.62326	D	0.03	.	5.2203	0.15366	0.2961:0.4029:0.0:0.301	.	55	Q9Y6L6	SO1B1_HUMAN	M	55	ENSP00000256958:I55M	ENSP00000256958:I55M	I	+	3	3	SLCO1B1	21216931	0.901000	0.30685	0.998000	0.56505	0.854000	0.48673	0.008000	0.13197	0.015000	0.14971	0.260000	0.18958	ATA	SLCO1B1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000134538		0.328	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	-	0.00	76	0	A	NM_006446		21325664	+1	tier1	-	no_errors	ENST00000256958	ensembl	human	known	74_37	missense	18.45	84	19	SNP	0.985	G
SLIRP	81892	genome.wustl.edu	37	14	78174465	78174465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:78174465C>A	ENST00000557342.1	+	1	52	c.11C>A	c.(10-12)tCa>tAa	p.S4*	SLIRP_ENST00000557623.1_Nonsense_Mutation_p.S4*|ALKBH1_ENST00000216489.3_5'Flank|SLIRP_ENST00000557431.1_Nonsense_Mutation_p.S4*|SLIRP_ENST00000238688.5_Nonsense_Mutation_p.S4*	NM_001267864.1|NM_031210.5	NP_001254793.1|NP_112487.1	Q9GZT3	SLIRP_HUMAN	SRA stem-loop interacting RNA binding protein	4					mitochondrion morphogenesis (GO:0070584)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	acrosomal vesicle (GO:0001669)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|sperm flagellum (GO:0036126)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			kidney(1)|prostate(1)	2						ATGGCGGCCTCAGCAGCGAGA	0.562																																																	0													58.0	59.0	59.0					14																	78174465		2203	4300	6503	SO:0001587	stop_gained	0			AF253980	CCDS9866.1, CCDS58331.1, CCDS73668.1	14q24.3	2013-02-12	2011-06-17	2011-06-17	ENSG00000119705	ENSG00000119705		"""RNA binding motif (RRM) containing"""	20495	protein-coding gene	gene with protein product		610211	"""chromosome 14 open reading frame 156"""	C14orf156		16762838	Standard	NM_031210		Approved	DC50	uc001xue.5	Q9GZT3		ENST00000557342.1:c.11C>A	14.37:g.78174465C>A	ENSP00000450909:p.Ser4*		J3KMY7	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S4*	ENST00000557342.1	37	c.11	CCDS9866.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.515730|4.515730	0.85495|0.85495	.|.	.|.	ENSG00000119705|ENSG00000119705	ENST00000556831|ENST00000557342;ENST00000238688;ENST00000557623;ENST00000557431	.|.	.|.	.|.	5.17|5.17	1.33|1.33	0.21861|0.21861	.|.	.|0.545093	.|0.17054	.|N	.|0.188830	T|.	0.16041|.	0.0386|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37619|.	-0.9698|.	3|.	.|0.02654	.|T	.|1	-1.0258|-1.0258	7.5391|7.5391	0.27727|0.27727	0.0:0.6919:0.0:0.3081|0.0:0.6919:0.0:0.3081	.|.	.|.	.|.	.|.	K|X	2|4	.|.	.|ENSP00000238688:S4X	Q|S	+|+	1|2	0|0	SLIRP|SLIRP	77244218|77244218	0.001000|0.001000	0.12720|0.12720	0.057000|0.057000	0.19452|0.19452	0.011000|0.011000	0.07611|0.07611	0.753000|0.753000	0.26376|0.26376	0.309000|0.309000	0.22966|0.22966	-1.128000|-1.128000	0.01989|0.01989	CAG|TCA	SLIRP	-	NULL	ENSG00000119705		0.562	SLIRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLIRP	HGNC	protein_coding	OTTHUMT00000413901.1		0.00	63	0	C	NM_031210		78174465	+1			no_errors	ENST00000557342	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	0.004	A
SLU7	10569	genome.wustl.edu	37	5	159833509	159833509	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:159833509T>G	ENST00000297151.4	-	12	1640	c.1253A>C	c.(1252-1254)aAg>aCg	p.K418T		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	418					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)			CTCCTCATACTTAGAGCAGGC	0.448																																																	0													156.0	127.0	137.0					5																	159833509		2203	4300	6503	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.1253A>C	5.37:g.159833509T>G	ENSP00000297151:p.Lys418Thr		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.K418T	ENST00000297151.4	37	c.1253	CCDS4352.1	5	.	.	.	.	.	.	.	.	.	.	T	31	5.073478	0.94000	.	.	ENSG00000164609	ENST00000297151	T	0.47528	0.84	6.07	6.07	0.98685	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	M	0.82433	2.59	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.75938	-0.3141	10	0.72032	D	0.01	-18.9536	16.6407	0.85098	0.0:0.0:0.0:1.0	.	418	O95391	SLU7_HUMAN	T	418	ENSP00000297151:K418T	ENSP00000297151:K418T	K	-	2	0	SLU7	159766087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.621000	0.83083	2.326000	0.78906	0.533000	0.62120	AAG	SLU7	-	pfam_Slu7	ENSG00000164609		0.448	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	HGNC	protein_coding	OTTHUMT00000252673.1	-	0.00	36	0	T	NM_006425		159833509	-1	tier1	-	no_errors	ENST00000297151	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	G
SMURF1	57154	genome.wustl.edu	37	7	98636024	98636024	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:98636024T>G	ENST00000361125.1	-	15	2072	c.1753A>C	c.(1753-1755)Aaa>Caa	p.K585Q	AC004893.11_ENST00000360902.1_RNA|AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.K559Q	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	585	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			ACGTATTCTTTCTTATTCTCC	0.577																																																	0													100.0	83.0	89.0					7																	98636024		2203	4300	6503	SO:0001583	missense	0			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1753A>C	7.37:g.98636024T>G	ENSP00000354621:p.Lys585Gln		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.K585Q	ENST00000361125.1	37	c.1753	CCDS34690.1	7	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311523	0.60414	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.58940	0.3;0.3	5.5	5.5	0.81552	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	L	0.35723	1.085	0.80722	D	1	P;P;P	0.51449	0.703;0.945;0.748	B;P;P	0.51974	0.343;0.686;0.474	T	0.63782	-0.6559	10	0.62326	D	0.03	.	15.9147	0.79503	0.0:0.0:0.0:1.0	.	559;585;559	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	Q	559;585	ENSP00000355326:K559Q;ENSP00000354621:K585Q	ENSP00000354621:K585Q	K	-	1	0	SMURF1	98473960	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	7.655000	0.83696	2.227000	0.72691	0.460000	0.39030	AAA	SMURF1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000198742		0.577	SMURF1-001	KNOWN	basic|CCDS	protein_coding	SMURF1	HGNC	protein_coding	OTTHUMT00000335001.2	-	0.00	48	0	T	NM_020429		98636024	-1	tier1	-	no_errors	ENST00000361125	ensembl	human	known	74_37	missense	27.27	56	21	SNP	1.000	G
SNHG14	104472715	genome.wustl.edu	37	15	25336769	25336769	+	RNA	SNP	A	A	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:25336769A>G	ENST00000546682.1	+	0	872				SNHG14_ENST00000553108.1_RNA|SNORD116-20_ENST00000384507.1_lincRNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-23_ENST00000384645.1_RNA|SNORD116-24_ENST00000384549.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		GCCAGTGGCTACGAGGGACAG	0.547																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25336769A>G				RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.547	SNHG14-022	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000408281.1		0.00	11	0	A			25336769	+1			no_errors	ENST00000546682	ensembl	human	known	74_37	rna	22.22	7	2	SNP	0.000	G
SNRNP70	6625	genome.wustl.edu	37	19	49611242	49611242	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:49611242C>T	ENST00000598441.1	+	10	1080	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R277W			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	286	Arg/Glu-rich (mixed charge).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGACAAGGACCGGGACCGGAA	0.751																																																	0													7.0	11.0	10.0					19																	49611242		1965	3903	5868	SO:0001583	missense	0				CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.856C>T	19.37:g.49611242C>T	ENSP00000472998:p.Arg286Trp		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R286W	ENST00000598441.1	37	c.856	CCDS12756.1	19	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920011	0.52653	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	.	.	.	3.65	2.58	0.30949	.	0.128086	0.47852	D	0.000206	T	0.63581	0.2523	L	0.50333	1.59	0.53005	D	0.99996	D;D	0.65815	0.991;0.995	P;P	0.59643	0.73;0.861	T	0.65236	-0.6217	9	0.87932	D	0	-5.9004	9.9532	0.41651	0.3643:0.6357:0.0:0.0	.	286;277	P08621;P08621-2	RU17_HUMAN;.	W	286;190	.	ENSP00000221448:R286W	R	+	1	2	SNRNP70	54303054	0.996000	0.38824	1.000000	0.80357	0.880000	0.50808	0.980000	0.29513	0.857000	0.35407	0.313000	0.20887	CGG	SNRNP70	-	NULL	ENSG00000104852		0.751	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP70	HGNC	protein_coding	OTTHUMT00000466266.1		0.00	11	0	C	NM_003089		49611242	+1			no_errors	ENST00000598441	ensembl	human	known	74_37	missense	12.50	14	2	SNP	1.000	T
SP100	6672	genome.wustl.edu	37	2	231331900	231331900	+	Missense_Mutation	SNP	G	G	T	rs376109285		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:231331900G>T	ENST00000264052.5	+	13	1616	c.1261G>T	c.(1261-1263)Ggg>Tgg	p.G421W	SP100_ENST00000340126.4_Missense_Mutation_p.G421W|SP100_ENST00000409897.1_Missense_Mutation_p.G386W|SP100_ENST00000341950.4_Missense_Mutation_p.G421W|SP100_ENST00000427101.2_Missense_Mutation_p.G396W|SP100_ENST00000409112.1_Missense_Mutation_p.G421W|SP100_ENST00000409824.1_Missense_Mutation_p.G396W|SP100_ENST00000409341.1_Missense_Mutation_p.G421W	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	421	Sufficient to mediate interaction with ETS1.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|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)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGCCTCGAGCGGGGCACTGAG	0.542																																																	0													115.0	127.0	123.0					2																	231331900		2203	4300	6503	SO:0001583	missense	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1261G>T	2.37:g.231331900G>T	ENSP00000264052:p.Gly421Trp		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.G421W	ENST00000264052.5	37	c.1261	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122226	0.37436	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897;ENST00000452345	T;T;T;T;T;T;T;T;T	0.80123	2.32;2.22;2.21;2.2;-1.34;0.24;2.09;2.21;0.85	3.92	1.35	0.21983	.	1.525520	0.04946	N	0.459446	T	0.69043	0.3067	N	0.08118	0	0.09310	N	1	P;P;B;B;B;P;P	0.48162	0.906;0.849;0.42;0.295;0.428;0.849;0.906	P;B;B;B;B;B;P	0.48334	0.574;0.37;0.061;0.028;0.028;0.37;0.574	T	0.61158	-0.7119	10	0.66056	D	0.02	.	4.3173	0.11000	0.2322:0.0:0.19:0.5778	.	396;386;421;421;421;396;421	F8WFE2;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;SP100_HUMAN;.;.;.	W	421;396;396;421;421;421;421;386;86	ENSP00000264052:G421W;ENSP00000399389:G396W;ENSP00000387311:G396W;ENSP00000386404:G421W;ENSP00000386427:G421W;ENSP00000343023:G421W;ENSP00000342729:G421W;ENSP00000386998:G386W;ENSP00000416563:G86W	ENSP00000264052:G421W	G	+	1	0	SP100	231040144	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.645000	0.05409	0.283000	0.22279	-1.494000	0.00967	GGG	SP100	-	NULL	ENSG00000067066		0.542	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2		0.00	52	0	G	NM_003113		231331900	+1			no_errors	ENST00000340126	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.000	T
SPEN	23013	genome.wustl.edu	37	1	16259994	16259994	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:16259994G>T	ENST00000375759.3	+	11	7463	c.7259G>T	c.(7258-7260)aGg>aTg	p.R2420M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2420	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTTGAGGAAAGGACTCCAACC	0.542																																																	0													88.0	102.0	97.0					1																	16259994		2203	4300	6503	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7259G>T	1.37:g.16259994G>T	ENSP00000364912:p.Arg2420Met		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R2420M	ENST00000375759.3	37	c.7259	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	5.154	0.213976	0.09810	.	.	ENSG00000065526	ENST00000375759	T	0.08720	3.06	5.06	1.46	0.22682	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	P	0.34462	0.454	B	0.31191	0.125	T	0.40905	-0.9538	9	0.51188	T	0.08	-8.0431	7.7351	0.28810	0.4005:0.0:0.5995:0.0	.	2420	Q96T58	MINT_HUMAN	M	2420	ENSP00000364912:R2420M	ENSP00000364912:R2420M	R	+	2	0	SPEN	16132581	0.011000	0.17503	0.973000	0.42090	0.639000	0.38242	0.483000	0.22292	0.262000	0.21774	-0.379000	0.06801	AGG	SPEN	-	NULL	ENSG00000065526		0.542	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	-	0.00	82	0	G	NM_015001		16259994	+1	tier1	-	no_errors	ENST00000375759	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.207	T
SSPO	23145	genome.wustl.edu	37	7	149484538	149484538	+	RNA	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:149484538G>T	ENST00000378016.2	+	0	3461							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGATGCCAGTAATGATCTG	0.642																																																	0													66.0	78.0	74.0					7																	149484538		2175	4265	6440			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149484538G>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.642	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0.00	38	0	G			149484538	+1	tier1	-	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	6.78	55	4	SNP	0.976	T
SYNE4	163183	genome.wustl.edu	37	19	36494298	36494298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:36494298G>A	ENST00000324444.3	-	8	1267	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	SYNE4_ENST00000340477.5_Nonsense_Mutation_p.R273*	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	386	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											CTGGGTATTCGGGCATGAGAG	0.547																																																	0													46.0	47.0	46.0					19																	36494298		2040	4187	6227	SO:0001587	stop_gained	0			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.1156C>T	19.37:g.36494298G>A	ENSP00000316130:p.Arg386*		A8MRS0|A8MYE3|Q7Z7L3	Nonsense_Mutation	SNP	pfam_KASH,pfscan_KASH	p.R386*	ENST00000324444.3	37	c.1156	CCDS42553.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.277073|2.277073	0.40294|0.40294	.|.	.|.	ENSG00000181392|ENSG00000181392	ENST00000397428;ENST00000490730|ENST00000503121;ENST00000340477;ENST00000324444	T|.	0.53206|.	0.63|.	6.07|6.07	3.92|3.92	0.45320|0.45320	.|.	.|628.756000	.|0.00166	.|N	.|0.000000	T|.	0.30008|.	0.0751|.	.|.	.|.	.|.	0.37487|0.37487	D|D	0.916232|0.916232	D|.	0.62365|.	0.991|.	P|.	0.45753|.	0.492|.	T|.	0.47005|.	-0.9150|.	8|.	0.87932|0.02654	D|T	0|1	-31.9971|-31.9971	7.5563|7.5563	0.27827|0.27827	0.0824:0.0:0.7533:0.1643|0.0824:0.0:0.7533:0.1643	.|.	326|.	D6RAE3|.	.|.	L|X	90;326|123;273;386	ENSP00000422716:P326L|.	ENSP00000380572:P90L|ENSP00000316130:R386X	P|R	-|-	2|1	0|2	C19orf46|C19orf46	41186138|41186138	0.001000|0.001000	0.12720|0.12720	0.006000|0.006000	0.13384|0.13384	0.084000|0.084000	0.17831|0.17831	0.936000|0.936000	0.28938|0.28938	0.870000|0.870000	0.35726|0.35726	0.655000|0.655000	0.94253|0.94253	CCG|CGA	SYNE4	-	pfam_KASH,pfscan_KASH	ENSG00000181392		0.547	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE4	HGNC	protein_coding	OTTHUMT00000109525.3	-	0.00	58	0	G	NM_001039876		36494298	-1	tier1	-	no_errors	ENST00000324444	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	0.019	A
SZT2	23334	genome.wustl.edu	37	1	43888892	43888892	+	Silent	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:43888892C>A	ENST00000562955.1	+	15	2160	c.2160C>A	c.(2158-2160)ccC>ccA	p.P720P	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	720					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCAGCTCTCCCTCCAAGTCAC	0.632																																																	0													30.0	29.0	29.0					1																	43888892		876	1991	2867	SO:0001819	synonymous_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2160C>A	1.37:g.43888892C>A			A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	NULL	p.P720	ENST00000562955.1	37	c.2160	CCDS30694.2	1																																																																																			SZT2	-	NULL	ENSG00000198198		0.632	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	-	0.00	55	0	C	NM_015284		43888892	+1	tier1	-	no_errors	ENST00000562955	ensembl	human	known	74_37	silent	6.90	53	4	SNP	0.998	A
TAB3	257397	genome.wustl.edu	37	X	30873574	30873574	+	Missense_Mutation	SNP	G	G	T	rs141569817		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:30873574G>T	ENST00000378933.1	-	3	385	c.208C>A	c.(208-210)Cgc>Agc	p.R70S	TAB3_ENST00000288422.2_Missense_Mutation_p.R70S|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.R70S|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Missense_Mutation_p.R70S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	70					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGTAAAAGGCGATTTCTATTC	0.433																																					Pancreas(164;1598 1985 29022 43301 49529)												0													69.0	58.0	62.0					X																	30873574		2202	4300	6502	SO:0001583	missense	0			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.208C>A	X.37:g.30873574G>T	ENSP00000368215:p.Arg70Ser		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.R70S	ENST00000378933.1	37	c.208	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001043	0.35320	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.67	5.44	5.44	0.79542	.	0.203995	0.53938	D	0.000056	T	0.48390	0.1497	N	0.03608	-0.345	0.38983	D	0.958986	B;B	0.12630	0.004;0.006	B;B	0.11329	0.006;0.004	T	0.50841	-0.8780	10	0.48119	T	0.1	-2.552	12.6129	0.56560	0.0:0.0:0.824:0.176	.	70;70	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	S	70	ENSP00000368215:R70S;ENSP00000368212:R70S;ENSP00000288422:R70S;ENSP00000368214:R70S	ENSP00000288422:R70S	R	-	1	0	TAB3	30783495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.876000	0.69667	2.407000	0.81776	0.600000	0.82982	CGC	TAB3	-	NULL	ENSG00000157625		0.433	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	-	0.00	60	0	G	NM_152787		30873574	-1	tier1	-	no_errors	ENST00000288422	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
TAB3	257397	genome.wustl.edu	37	X	30873600	30873600	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:30873600G>T	ENST00000378933.1	-	3	359	c.182C>A	c.(181-183)cCa>cAa	p.P61Q	TAB3_ENST00000288422.2_Missense_Mutation_p.P61Q|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.P61Q|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Missense_Mutation_p.P61Q	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	61					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATTGTCATCTGGACTATGGTA	0.408																																					Pancreas(164;1598 1985 29022 43301 49529)												0													50.0	46.0	48.0					X																	30873600		2202	4300	6502	SO:0001583	missense	0			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.182C>A	X.37:g.30873600G>T	ENSP00000368215:p.Pro61Gln		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.P61Q	ENST00000378933.1	37	c.182	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059334	0.55325	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.44	5.44	0.79542	.	0.051598	0.85682	D	0.000000	T	0.74906	0.3778	L	0.38175	1.15	0.58432	D	0.99999	D;D	0.67145	0.996;0.994	D;P	0.63877	0.919;0.832	T	0.77078	-0.2721	10	0.72032	D	0.01	-3.3229	12.0151	0.53309	0.0815:0.0:0.9185:0.0	.	61;61	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	Q	61	ENSP00000368215:P61Q;ENSP00000368212:P61Q;ENSP00000288422:P61Q;ENSP00000368214:P61Q	ENSP00000288422:P61Q	P	-	2	0	TAB3	30783521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.637000	0.83313	2.407000	0.81776	0.600000	0.82982	CCA	TAB3	-	NULL	ENSG00000157625		0.408	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1		0.00	56	0	G	NM_152787		30873600	-1			no_errors	ENST00000288422	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
TATDN2	9797	genome.wustl.edu	37	3	10291029	10291029	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:10291029C>G	ENST00000287652.4	+	2	1196	c.145C>G	c.(145-147)Ccc>Gcc	p.P49A	TATDN2_ENST00000448281.2_Missense_Mutation_p.P49A|RP11-438J1.1_ENST00000450534.1_5'Flank	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	49					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TTCTGGAGGGCCCAGCAGCCC	0.667																																																	0													49.0	60.0	56.0					3																	10291029		2202	4300	6502	SO:0001583	missense	0			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.145C>G	3.37:g.10291029C>G	ENSP00000287652:p.Pro49Ala		Q3MIL9|Q5BKU0	Missense_Mutation	SNP	pfam_TatD_family	p.P49A	ENST00000287652.4	37	c.145	CCDS33698.1	3	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.007113	0.00426	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.18960	2.18;2.18	4.16	-0.514	0.11958	.	.	.	.	.	T	0.04272	0.0118	N	0.00583	-1.355	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.41963	-0.9479	9	0.02654	T	1	-2.3925	7.5888	0.28008	0.1159:0.5849:0.2993:0.0	.	49	Q93075	TATD2_HUMAN	A	49	ENSP00000287652:P49A;ENSP00000408736:P49A	ENSP00000287652:P49A	P	+	1	0	TATDN2	10266029	0.119000	0.22226	0.419000	0.26584	0.002000	0.02628	-0.284000	0.08422	0.066000	0.16515	-0.300000	0.09419	CCC	TATDN2	-	NULL	ENSG00000157014		0.667	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	-	0.00	85	0	C	XM_376203		10291029	+1	tier1	-	no_errors	ENST00000287652	ensembl	human	known	74_37	missense	12.04	95	13	SNP	0.471	G
TBX5	6910	genome.wustl.edu	37	12	114793733	114793733	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:114793733G>T	ENST00000310346.4	-	9	1827	c.1161C>A	c.(1159-1161)agC>agA	p.S387R	TBX5_ENST00000405440.2_Missense_Mutation_p.S387R|TBX5_ENST00000349716.5_Missense_Mutation_p.S337R	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	387					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCACAGGCTCGCTGGGGGGCG	0.637																																					NSCLC(152;1358 1980 4050 23898 40356)												0													66.0	59.0	61.0					12																	114793733		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1161C>A	12.37:g.114793733G>T	ENSP00000309913:p.Ser387Arg		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S387R	ENST00000310346.4	37	c.1161	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636987	0.29157	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.46063	0.88;0.88;0.88	5.27	-0.526	0.11913	.	0.197820	0.53938	D	0.000051	T	0.23649	0.0572	L	0.34521	1.04	0.33451	D	0.583655	B	0.23650	0.089	B	0.24974	0.057	T	0.17930	-1.0353	10	0.15952	T	0.53	.	4.9487	0.14002	0.2127:0.0897:0.5536:0.1441	.	387	Q99593	TBX5_HUMAN	R	337;387;284;387	ENSP00000337723:S337R;ENSP00000309913:S387R;ENSP00000384152:S387R	ENSP00000309913:S387R	S	-	3	2	TBX5	113278116	0.006000	0.16342	0.998000	0.56505	0.923000	0.55619	-1.233000	0.02934	-0.005000	0.14395	-0.940000	0.02684	AGC	TBX5	-	NULL	ENSG00000089225		0.637	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	-	0.00	44	0	G	NM_080717		114793733	-1	tier1	-	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	46.67	24	21	SNP	0.887	T
TBX5	6910	genome.wustl.edu	37	12	114803998	114803998	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:114803998G>T	ENST00000310346.4	-	8	1620	c.954C>A	c.(952-954)agC>agA	p.S318R	TBX5_ENST00000526441.1_Missense_Mutation_p.S318R|TBX5_ENST00000405440.2_Missense_Mutation_p.S318R|TBX5_ENST00000349716.5_Missense_Mutation_p.S268R	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	318					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGTAAATTTGGCTATGCTCCT	0.532																																					NSCLC(152;1358 1980 4050 23898 40356)												0													111.0	105.0	107.0					12																	114803998		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.954C>A	12.37:g.114803998G>T	ENSP00000309913:p.Ser318Arg		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S318R	ENST00000310346.4	37	c.954	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027153	0.35797	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.87966	-2.28;-2.32;-2.32;-2.26	5.62	1.32	0.21799	.	0.595343	0.19218	N	0.119759	T	0.80385	0.4613	L	0.50333	1.59	0.42985	D	0.994474	B;B	0.26672	0.156;0.09	B;B	0.34536	0.185;0.034	T	0.64968	-0.6282	10	0.15952	T	0.53	.	4.2296	0.10597	0.0687:0.2297:0.3525:0.3491	.	318;318	Q99593-2;Q99593	.;TBX5_HUMAN	R	268;318;215;318;318	ENSP00000337723:S268R;ENSP00000309913:S318R;ENSP00000384152:S318R;ENSP00000433292:S318R	ENSP00000309913:S318R	S	-	3	2	TBX5	113288381	0.991000	0.36638	0.294000	0.24946	0.931000	0.56810	0.603000	0.24149	0.269000	0.21961	0.655000	0.94253	AGC	TBX5	-	NULL	ENSG00000089225		0.532	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	-	0.00	90	0	G	NM_080717		114803998	-1	tier1	-	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	39.06	39	25	SNP	0.814	T
TDP1	55775	genome.wustl.edu	37	14	90489414	90489414	+	Intron	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:90489414G>A	ENST00000335725.4	+	15	1894				TDP1_ENST00000393454.2_Intron|TDP1_ENST00000357382.3_Intron|TDP1_ENST00000555880.1_Intron|TDP1_ENST00000393452.3_Silent_p.S561S	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1						cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		tggaggcttcgttctctggta	0.498								Repair of DNA-protein crosslinks																																									0													34.0	31.0	32.0					14																	90489414		876	1991	2867	SO:0001627	intron_variant	0			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1644+3652G>A	14.37:g.90489414G>A			Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	pfam_Tyr-DNA_phospho	p.S561	ENST00000335725.4	37	c.1683	CCDS9888.1	14																																																																																			TDP1	-	NULL	ENSG00000042088		0.498	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	-	0.00	39	0	G	NM_018319		90489414	+1	tier1	-	no_errors	ENST00000393452	ensembl	human	putative	74_37	silent	12.90	27	4	SNP	0.000	A
TEK	7010	genome.wustl.edu	37	9	27185608	27185608	+	Silent	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:27185608C>T	ENST00000380036.4	+	9	1750	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P	TEK_ENST00000406359.4_Silent_p.P393P|TEK_ENST00000519097.1_Silent_p.P289P	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	436	Ig-like C2-type 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TGGAAAAGCCCTTCAACATTT	0.443																																																	0													96.0	94.0	95.0					9																	27185608		2203	4300	6503	SO:0001819	synonymous_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1308C>T	9.37:g.27185608C>T			A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P436	ENST00000380036.4	37	c.1308	CCDS6519.1	9																																																																																			TEK	-	pfscan_Ig-like_dom	ENSG00000120156		0.443	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	-	0.00	108	0	C			27185608	+1	tier1	-	no_errors	ENST00000380036	ensembl	human	known	74_37	silent	8.00	68	6	SNP	0.995	T
THYN1	29087	genome.wustl.edu	37	11	134118702	134118702	+	Splice_Site	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:134118702C>T	ENST00000341541.3	-	6	1093		c.e6+1		THYN1_ENST00000392594.3_Splice_Site|THYN1_ENST00000352327.5_Intron|THYN1_ENST00000392595.2_Splice_Site|THYN1_ENST00000525677.1_5'Flank	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1							nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		cccactcttaccctgggtcag	0.453																																																	0													77.0	83.0	81.0					11																	134118702		2201	4297	6498	SO:0001630	splice_region_variant	0			BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.631+1G>A	11.37:g.134118702C>T			Q567Q2|Q9H3L4|Q9HC20	Splice_Site	SNP	-	e6+1	ENST00000341541.3	37	c.631+1	CCDS8496.1	11																																																																																			THYN1	-	-	ENSG00000151500		0.453	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THYN1	HGNC	protein_coding	OTTHUMT00000393599.1	-	0.00	54	0	C	NM_014174	Intron	134118702	-1	tier1	-	no_errors	ENST00000341541	ensembl	human	known	74_37	splice_site	20.00	24	6	SNP	1.000	T
TINAGL1	64129	genome.wustl.edu	37	1	32042855	32042855	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:32042855C>T	ENST00000271064.7	+	2	182	c.106C>T	c.(106-108)Cac>Tac	p.H36Y	TINAGL1_ENST00000441210.2_Missense_Mutation_p.H36Y|TINAGL1_ENST00000457433.2_Missense_Mutation_p.H36Y|TINAGL1_ENST00000481165.1_3'UTR|RP11-73M7.1_ENST00000435872.1_RNA|TINAGL1_ENST00000537531.1_Missense_Mutation_p.H36Y	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	36					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACCGGGTCTGCACCTGCGGGG	0.726																																																	0													21.0	22.0	22.0					1																	32042855		2200	4297	6497	SO:0001583	missense	0			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.106C>T	1.37:g.32042855C>T	ENSP00000271064:p.His36Tyr		A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.H36Y	ENST00000271064.7	37	c.106	CCDS343.1	1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.394498	0.83011	.	.	ENSG00000142910	ENST00000457433;ENST00000441210;ENST00000271064;ENST00000537531;ENST00000403321	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.71	4.71	0.59529	.	0.050308	0.85682	D	0.000000	T	0.38558	0.1045	L	0.31804	0.96	0.47183	D	0.999341	P;P;P	0.45715	0.473;0.865;0.473	B;P;B	0.46510	0.069;0.519;0.069	T	0.05886	-1.0858	10	0.10636	T	0.68	.	12.6669	0.56848	0.0:0.9174:0.0:0.0826	.	36;36;36	B4DPK6;E7EUP2;Q9GZM7	.;.;TINAL_HUMAN	Y	36	ENSP00000395137:H36Y;ENSP00000411798:H36Y;ENSP00000271064:H36Y;ENSP00000445392:H36Y	ENSP00000271064:H36Y	H	+	1	0	TINAGL1	31815442	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.288000	0.59007	2.618000	0.88619	0.655000	0.94253	CAC	TINAGL1	-	NULL	ENSG00000142910		0.726	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAGL1	HGNC	protein_coding	OTTHUMT00000011072.1		0.00	11	0	C	NM_022164		32042855	+1			no_errors	ENST00000271064	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	T
TLN2	83660	genome.wustl.edu	37	15	63014551	63014551	+	Splice_Site	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:63014551G>T	ENST00000561311.1	+	25	3221		c.e25-1		TLN2_ENST00000306829.6_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCTCTCTATAGCCTGGAAGCA	0.547																																																	0													41.0	39.0	40.0					15																	63014551		2203	4300	6503	SO:0001630	splice_region_variant	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2992-1G>T	15.37:g.63014551G>T			A6NLB8	Splice_Site	SNP	-	e23-1	ENST00000561311.1	37	c.2992-1	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709107	0.89018	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4599	0.94912	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLN2	60801843	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	9.750000	0.98875	2.671000	0.90904	0.563000	0.77884	.	TLN2	-	-	ENSG00000171914		0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2		0.00	19	0	G		Intron	63014551	+1			no_errors	ENST00000306829	ensembl	human	known	74_37	splice_site	15.38	22	4	SNP	1.000	T
TLR1	7096	genome.wustl.edu	37	4	38798612	38798612	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:38798612C>T	ENST00000502213.2	-	3	2070	c.1841G>A	c.(1840-1842)tGc>tAc	p.C614Y	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.C614Y			Q15399	TLR1_HUMAN	toll-like receptor 1	614					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GGTCCACTGGCACACCATCCT	0.527																																					GBM(5;216 373 40795 46382)												0													78.0	90.0	86.0					4																	38798612		2203	4300	6503	SO:0001583	missense	0			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1841G>A	4.37:g.38798612C>T	ENSP00000421259:p.Cys614Tyr		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.C614Y	ENST00000502213.2	37	c.1841	CCDS33973.1	4	.	.	.	.	.	.	.	.	.	.	C	1.644	-0.515660	0.04200	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.01933	4.55;4.55	5.43	-2.46	0.06461	.	0.618723	0.16627	N	0.206201	T	0.01421	0.0046	L	0.29908	0.895	0.31551	N	0.658727	B	0.02656	0.0	B	0.06405	0.002	T	0.50092	-0.8868	10	0.02654	T	1	.	8.5383	0.33377	0.5055:0.3786:0.0:0.1159	.	614	Q15399	TLR1_HUMAN	Y	614	ENSP00000354932:C614Y;ENSP00000421259:C614Y	ENSP00000354932:C614Y	C	-	2	0	TLR1	38475007	0.993000	0.37304	0.274000	0.24659	0.897000	0.52465	1.287000	0.33284	-0.413000	0.07507	-0.890000	0.02929	TGC	TLR1	-	pirsf_Toll-like_receptor	ENSG00000174125		0.527	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	HGNC	protein_coding	OTTHUMT00000360510.3		0.00	70	0	C			38798612	-1			no_errors	ENST00000308979	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.999	T
TLR8	51311	genome.wustl.edu	37	X	12937425	12937425	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:12937425T>C	ENST00000218032.6	+	2	353	c.266T>C	c.(265-267)cTc>cCc	p.L89P	TLR8_ENST00000311912.5_Missense_Mutation_p.L107P	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	89					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CTGCAAAATCTCACTAAAATA	0.418																																																	0													113.0	113.0	113.0					X																	12937425		2203	4300	6503	SO:0001583	missense	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.266T>C	X.37:g.12937425T>C	ENSP00000218032:p.Leu89Pro		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L89P	ENST00000218032.6	37	c.266	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731229	0.69189	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.81330	-1.48;-1.48	5.2	5.2	0.72013	.	0.216999	0.23243	N	0.050322	D	0.91811	0.7409	H	0.94925	3.6	0.80722	D	1	D;D	0.69078	0.975;0.997	P;D	0.65773	0.794;0.938	D	0.93816	0.7114	10	0.87932	D	0	.	14.2604	0.66080	0.0:0.0:0.0:1.0	.	89;107	Q9NR97;D1CS70	TLR8_HUMAN;.	P	89;107	ENSP00000218032:L89P;ENSP00000312082:L107P	ENSP00000218032:L89P	L	+	2	0	TLR8	12847346	1.000000	0.71417	0.002000	0.10522	0.863000	0.49368	6.193000	0.72075	1.745000	0.51790	0.425000	0.28330	CTC	TLR8	-	NULL	ENSG00000101916		0.418	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	-	0.00	53	0	T	NM_016610		12937425	+1	tier1	-	no_errors	ENST00000218032	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.942	C
TM2D1	83941	genome.wustl.edu	37	1	62149068	62149069	+	Intron	DEL	AT	AT	-	rs567460013|rs372985528		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:62149068_62149069delAT	ENST00000606498.1	-	6	664				TM2D1_ENST00000371180.2_Intron|TM2D1_ENST00000472989.1_5'UTR|TM2D1_ENST00000294613.5_Intron			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						AAGATATTACATATATATATAT	0.252																																																	0										44,248,1908		10,0,24,27,194,845						1.2	0.0		dbSNP_134	3	219,479,4252		52,4,111,60,355,1893	no	intron	TM2D1	NM_032027.2		62,4,135,87,549,2738	A1A1,A1A2,A1R,A2A2,A2R,RR		14.101,13.2727,13.8462				263,727,6160				SO:0001627	intron_variant	0			AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.621+19AT>-	1.37:g.62149078_62149079delAT			A6NDA8	RNA	DEL	-	NULL	ENST00000606498.1	37	NULL		1																																																																																			TM2D1	-	-	ENSG00000162604		0.252	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	TM2D1	HGNC	protein_coding	OTTHUMT00000470779.2		0.00	39	0	AT	NM_032027		62149069	-1	tier1		no_errors	ENST00000472989	ensembl	human	known	74_37	rna	14.00	43	7	DEL	0.000:0.000	-
TMEM209	84928	genome.wustl.edu	37	7	129843914	129843914	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:129843914C>A	ENST00000397622.2	-	2	162	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	TMEM209_ENST00000473456.1_Missense_Mutation_p.D14Y|TMEM209_ENST00000336804.8_Missense_Mutation_p.D13Y|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Missense_Mutation_p.D13Y	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	14						integral component of membrane (GO:0016021)		p.D13N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ATGGTTCTGTCAATAAGGGAA	0.398																																																	1	Substitution - Missense(1)	lung(1)											93.0	81.0	85.0					7																	129843914		1868	4081	5949	SO:0001583	missense	0				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.40G>T	7.37:g.129843914C>A	ENSP00000380747:p.Asp14Tyr		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	pfam_Cytochrome_B561-rel	p.D14Y	ENST00000397622.2	37	c.40	CCDS47712.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.168903	0.94768	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985;ENST00000471077	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.66	5.66	0.87406	.	0.040555	0.85682	D	0.000000	T	0.61912	0.2385	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.961;0.988;0.977	T	0.62604	-0.6819	10	0.72032	D	0.01	-20.4628	19.1131	0.93326	0.0:1.0:0.0:0.0	.	14;14;14	Q96SK2-3;Q96SK2-4;Q96SK2	.;.;TM209_HUMAN	Y	14;13;14;13;14;57;13	ENSP00000380747:D14Y;ENSP00000419697:D13Y;ENSP00000417258:D14Y;ENSP00000338388:D13Y;ENSP00000419852:D57Y;ENSP00000418474:D13Y	ENSP00000338388:D13Y	D	-	1	0	TMEM209	129631150	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.950000	0.75977	2.832000	0.97577	0.655000	0.94253	GAC	TMEM209	-	pfam_Cytochrome_B561-rel	ENSG00000146842		0.398	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM209	HGNC	protein_coding	OTTHUMT00000349339.1	-	0.00	45	0	C	NM_032842		129843914	-1	tier1	-	no_errors	ENST00000397622	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A
TMPRSS7	344805	genome.wustl.edu	37	3	111794282	111794282	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:111794282C>T	ENST00000452346.2	+	15	1901	c.1898C>T	c.(1897-1899)gCc>gTc	p.A633V	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.A507V			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	633	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TACTGTGGTGCCTCAGTCATC	0.587																																																	0													150.0	160.0	157.0					3																	111794282		2010	4167	6177	SO:0001583	missense	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1898C>T	3.37:g.111794282C>T	ENSP00000398236:p.Ala633Val		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.A507V	ENST00000452346.2	37	c.1520		3	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101883	0.56183	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.63417	-0.04;-0.04	5.71	5.71	0.89125	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.82697	0.5093	M	0.93594	3.435	0.49915	D	0.999837	D;D	0.69078	0.996;0.997	D;D	0.65987	0.938;0.94	D	0.86654	0.1900	10	0.87932	D	0	.	13.4187	0.60985	0.0:0.7348:0.2652:0.0	.	633;507	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	V	633;621;607;507	ENSP00000398236:A633V;ENSP00000411645:A507V	ENSP00000411645:A507V	A	+	2	0	TMPRSS7	113276972	1.000000	0.71417	0.998000	0.56505	0.074000	0.17049	4.279000	0.58953	2.669000	0.90835	0.655000	0.94253	GCC	TMPRSS7	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000176040		0.587	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2		0.00	33	0	C	XM_293599		111794282	+1			no_errors	ENST00000419127	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
TMTC3	160418	genome.wustl.edu	37	12	88586397	88586397	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:88586397A>T	ENST00000266712.6	+	13	1943	c.1723A>T	c.(1723-1725)Aaa>Taa	p.K575*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	575					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ATTGCTTTTAAAAATGAATAA	0.328																																																	0													57.0	61.0	59.0					12																	88586397		2203	4299	6502	SO:0001587	stop_gained	0				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1723A>T	12.37:g.88586397A>T	ENSP00000266712:p.Lys575*		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Nonsense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K575*	ENST00000266712.6	37	c.1723	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	A	40	8.389617	0.98789	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.2351	15.9748	0.80054	1.0:0.0:0.0:0.0	.	.	.	.	X	575	.	ENSP00000266712:K575X	K	+	1	0	TMTC3	87110528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.319000	0.96338	2.183000	0.69458	0.477000	0.44152	AAA	TMTC3	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000139324		0.328	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	-	0.00	77	0	A	NM_181783		88586397	+1	tier1	-	no_errors	ENST00000266712	ensembl	human	known	74_37	nonsense	43.10	33	25	SNP	1.000	T
TNR	7143	genome.wustl.edu	37	1	175355408	175355408	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:175355408G>T	ENST00000367674.2	-	8	2245	c.1537C>A	c.(1537-1539)Cgc>Agc	p.R513S	TNR_ENST00000263525.2_Missense_Mutation_p.R513S			Q92752	TENR_HUMAN	tenascin R	513	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)					GAGACATCGCGAACCAGGATC	0.498																																																	0													32.0	35.0	34.0					1																	175355408		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.1537C>A	1.37:g.175355408G>T	ENSP00000356646:p.Arg513Ser		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.R513S	ENST00000367674.2	37	c.1537	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567285	0.86439	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.53640	0.61;0.61	5.68	5.68	0.88126	Fibronectin, type III (4);	0.000000	0.64402	D	0.000001	T	0.52821	0.1758	N	0.21142	0.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.36578	-0.9742	10	0.05833	T	0.94	.	19.3874	0.94563	0.0:0.0:1.0:0.0	.	513	Q92752	TENR_HUMAN	S	513	ENSP00000356646:R513S;ENSP00000263525:R513S	ENSP00000263525:R513S	R	-	1	0	TNR	173622031	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.266000	0.78452	2.660000	0.90430	0.650000	0.86243	CGC	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.498	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4		0.00	75	0	G	NM_003285		175355408	-1			no_errors	ENST00000263525	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
TOM1L1	10040	genome.wustl.edu	37	17	53016364	53016364	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:53016364G>T	ENST00000575882.1	+	11	1466	c.1113G>T	c.(1111-1113)gaG>gaT	p.E371D	TOM1L1_ENST00000540336.1_Missense_Mutation_p.E259D|TOM1L1_ENST00000445275.2_Missense_Mutation_p.E371D|TOM1L1_ENST00000348161.4_Missense_Mutation_p.E294D|TOM1L1_ENST00000572158.1_Missense_Mutation_p.E364D|TOM1L1_ENST00000536554.1_Missense_Mutation_p.E294D	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	371					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TAGCCTTGGAGAATACAGAGA	0.398																																																	0													112.0	102.0	105.0					17																	53016364		2203	4300	6503	SO:0001583	missense	0			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1113G>T	17.37:g.53016364G>T	ENSP00000460823:p.Glu371Asp		Q53G06|Q8N749	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.E371D	ENST00000575882.1	37	c.1113	CCDS11582.1	17	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752926	0.31046	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.25250	1.85;1.81;1.86;1.86	5.37	2.97	0.34412	.	0.899601	0.09116	N	0.846351	T	0.18593	0.0446	L	0.60455	1.87	0.27791	N	0.942828	P;P;P;P	0.42827	0.791;0.501;0.791;0.501	B;B;B;B	0.32677	0.15;0.107;0.15;0.107	T	0.11867	-1.0570	10	0.12430	T	0.62	-1.8641	5.8125	0.18473	0.7853:0.0:0.2147:0.0	.	259;364;294;371	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	D	371;259;294;294	ENSP00000408958:E371D;ENSP00000441242:E259D;ENSP00000343901:E294D;ENSP00000443099:E294D	ENSP00000343901:E294D	E	+	3	2	TOM1L1	50371363	1.000000	0.71417	0.898000	0.35279	0.642000	0.38348	2.115000	0.41921	1.051000	0.40369	-0.715000	0.03620	GAG	TOM1L1	-	pirsf_TOM1	ENSG00000141198		0.398	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOM1L1	HGNC	protein_coding	OTTHUMT00000439029.2	-	0.00	68	0	G	NM_005486		53016364	+1	tier1	-	no_errors	ENST00000575882	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.981	T
TOP2B	7155	genome.wustl.edu	37	3	25648815	25648815	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:25648815G>T	ENST00000264331.4	-	31	4144	c.4145C>A	c.(4144-4146)gCt>gAt	p.A1382D	TOP2B_ENST00000542520.1_Missense_Mutation_p.A234D|TOP2B_ENST00000540199.1_Missense_Mutation_p.A234D|TOP2B_ENST00000435706.2_Missense_Mutation_p.A1377D	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1382					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.A1377D(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	atcatcatcagcatcatcatc	0.343																																																	1	Substitution - Missense(1)	stomach(1)											65.0	58.0	60.0					3																	25648815		1925	4107	6032	SO:0001583	missense	0			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4145C>A	3.37:g.25648815G>T	ENSP00000264331:p.Ala1382Asp		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.A1382D	ENST00000264331.4	37	c.4145		3	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939093	0.18281	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.48522	0.81;0.89;0.89;0.81	5.1	4.2	0.49525	.	0.282980	0.37955	N	0.001868	T	0.28566	0.0707	N	0.19112	0.55	0.42674	D	0.993526	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09207	-1.0685	10	0.06625	T	0.88	-6.5522	12.431	0.55573	0.0:0.0:0.5633:0.4367	.	1382;1377	Q02880;Q02880-2	TOP2B_HUMAN;.	D	234;1377;1382;234	ENSP00000446023:A234D;ENSP00000396704:A1377D;ENSP00000264331:A1382D;ENSP00000437352:A234D	ENSP00000264331:A1382D	A	-	2	0	TOP2B	25623819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.872000	0.56085	1.423000	0.47198	0.561000	0.74099	GCT	TOP2B	-	NULL	ENSG00000077097		0.343	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding			0.00	63	0	G			25648815	-1			no_errors	ENST00000264331	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577556	7577557	+	In_Frame_Ins	INS	-	-	AGG	rs121912655|rs397516437		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:7577556_7577557insAGG	ENST00000269305.4	-	7	913_914	c.724_725insCCT	c.(724-726)tgc>tCCTgc	p.241_242insS	TP53_ENST00000445888.2_In_Frame_Ins_p.241_242insS|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_In_Frame_Ins_p.241_242insS|TP53_ENST00000420246.2_In_Frame_Ins_p.241_242insS|TP53_ENST00000359597.4_In_Frame_Ins_p.241_242insS|TP53_ENST00000413465.2_In_Frame_Ins_p.241_242insS	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242F(82)|p.C242Y(44)|p.C242S(26)|p.C242R(12)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.S241del(2)|p.C242G(2)|p.C149Y(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.C242fs*5(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCGCCCATGCAGGAACTGTTA	0.579		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	206	Substitution - Missense(174)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(2)|Insertion - Frameshift(1)|Insertion - In frame(1)	lung(37)|upper_aerodigestive_tract(24)|large_intestine(19)|breast(18)|liver(18)|oesophagus(16)|ovary(14)|central_nervous_system(13)|urinary_tract(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(5)|bone(5)|pancreas(4)|prostate(4)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)	GRCh37	CM910618	TP53	M	rs121912655																																			SO:0001652	inframe_insertion	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722_724dupCCT	17.37:g.7577557_7577559dupAGG	ENSP00000269305:p.Ser241_Ser241dup		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.242in_frame_insS	ENST00000269305.4	37	c.725_724	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.579	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	49	0	-	NM_000546		7577557	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_ins	36.54	33	19	INS	1.000:1.000	AGG
DCHS1	8642	genome.wustl.edu	37	11	6640089	6640089	+	IGR	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:6640089G>T	ENST00000299441.3	-	0	10763				TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000299427.6_Silent_p.L49L|TPP1_ENST00000534644.1_Intron|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000528657.1_3'UTR	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L49L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCAAAGGTGAGACTCAGCT	0.607																																																	1	Substitution - coding silent(1)	breast(1)											79.0	72.0	74.0					11																	6640089		2201	4296	6497	SO:0001628	intergenic_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640089G>T			O15098	Silent	SNP	pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	p.L49	ENST00000299441.3	37	c.147	CCDS7771.1	11																																																																																			TPP1	-	pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	ENSG00000166340		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP1	HGNC	protein_coding	OTTHUMT00000257258.1		0.00	40	0	G	NM_003737		6640089	-1			no_errors	ENST00000299427	ensembl	human	known	74_37	silent	6.52	43	3	SNP	1.000	T
TRIM39	56658	genome.wustl.edu	37	6	30309814	30309814	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:30309814delT	ENST00000396547.1	+	8	1495	c.1335delT	c.(1333-1335)cctfs	p.P445fs	TRIM39_ENST00000376659.5_Frame_Shift_Del_p.P415fs|TRIM39_ENST00000376656.4_Frame_Shift_Del_p.P445fs|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000396548.1_Frame_Shift_Del_p.P415fs|TRIM39_ENST00000540416.1_Frame_Shift_Del_p.P415fs|TRIM39_ENST00000396551.3_Frame_Shift_Del_p.P415fs			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	445	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CCACCACACCTTTTACCCCTT	0.547																																																	0													77.0	76.0	77.0					6																	30309814		1511	2709	4220	SO:0001589	frameshift_variant	0			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1335delT	6.37:g.30309814delT	ENSP00000379796:p.Pro445fs		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.F446fs	ENST00000396547.1	37	c.1335	CCDS34377.1	6																																																																																			TRIM39	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000204599		0.547	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2		0.00	57	0	T	NM_172016		30309814	+1	tier1		no_errors	ENST00000376656	ensembl	human	known	74_37	frame_shift_del	6.82	41	3	DEL	0.999	-
TRPM1	4308	genome.wustl.edu	37	15	31354881	31354881	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:31354881C>A	ENST00000256552.6	-	9	1137	c.990G>T	c.(988-990)gaG>gaT	p.E330D	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.E308D|TRPM1_ENST00000542188.1_Missense_Mutation_p.E347D	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.E308D(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTAGAAGCTGCTCCCTGAGGG	0.343																																																	1	Substitution - Missense(1)	lung(1)											106.0	94.0	98.0					15																	31354881		1813	4080	5893	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.990G>T	15.37:g.31354881C>A	ENSP00000256552:p.Glu330Asp			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E347D	ENST00000256552.6	37	c.1041	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	3.071	-0.191051	0.06299	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.61158	0.13;0.13;0.13	5.72	-4.79	0.03200	.	0.043135	0.85682	N	0.000000	T	0.25568	0.0622	N	0.05487	-0.04	0.26829	N	0.968624	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.33904	-0.9850	10	0.02654	T	1	-28.951	11.6975	0.51553	0.3451:0.1139:0.5409:0.0	.	302;308	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	D	308;347;330;308	ENSP00000380897:E308D;ENSP00000437849:E347D;ENSP00000256552:E330D	ENSP00000256552:E330D	E	-	3	2	TRPM1	29142173	0.933000	0.31639	0.897000	0.35233	0.943000	0.58893	0.016000	0.13377	-1.263000	0.02455	-0.274000	0.10170	GAG	TRPM1	-	NULL	ENSG00000134160		0.343	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2		0.00	36	0	C	NM_002420		31354881	-1			no_errors	ENST00000542188	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.659	A
TRPM8	79054	genome.wustl.edu	37	2	234869499	234869499	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:234869499G>T	ENST00000324695.4	+	12	1482	c.1442G>T	c.(1441-1443)gGc>gTc	p.G481V	TRPM8_ENST00000433712.2_Missense_Mutation_p.G169V	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	481					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGGAGAATGGCTTGAACCTA	0.478																																																	0													115.0	101.0	106.0					2																	234869499		2203	4300	6503	SO:0001583	missense	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1442G>T	2.37:g.234869499G>T	ENSP00000323926:p.Gly481Val		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.G481V	ENST00000324695.4	37	c.1442	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549027	0.86127	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	D;D	0.87571	-2.27;-2.27	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95387	0.8478	10	0.87932	D	0	-32.5183	18.6269	0.91344	0.0:0.0:1.0:0.0	.	169;481	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	V	481;169	ENSP00000323926:G481V;ENSP00000404423:G169V	ENSP00000323926:G481V	G	+	2	0	TRPM8	234534238	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	8.142000	0.89619	2.735000	0.93741	0.655000	0.94253	GGC	TRPM8	-	NULL	ENSG00000144481		0.478	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4		0.00	74	0	G	NM_024080		234869499	+1			no_errors	ENST00000324695	ensembl	human	known	74_37	missense	5.08	55	3	SNP	1.000	T
TRPS1	7227	genome.wustl.edu	37	8	116617135	116617135	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:116617135G>T	ENST00000220888.5	-	3	1181	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	TRPS1_ENST00000520276.1_Missense_Mutation_p.T345N|TRPS1_ENST00000519076.1_Missense_Mutation_p.T295N|TRPS1_ENST00000519674.1_Missense_Mutation_p.T341N|TRPS1_ENST00000395715.3_Missense_Mutation_p.T354N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	341					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCCCATATAAGTGAAATTGCA	0.433									Langer-Giedion syndrome																																								0													99.0	97.0	97.0					8																	116617135		1876	4101	5977	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1022C>A	8.37:g.116617135G>T	ENSP00000220888:p.Thr341Asn		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.T354N	ENST00000220888.5	37	c.1061		8	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137345	0.77775	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.01448	-1.1352	10	0.87932	D	0	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	345;341;354	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	N	354;341;295;345;341	ENSP00000379065:T354N;ENSP00000220888:T341N;ENSP00000428910:T295N;ENSP00000428680:T345N;ENSP00000429174:T341N	ENSP00000220888:T341N	T	-	2	0	TRPS1	116686310	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	ACT	TRPS1	-	smart_Znf_C2H2-like	ENSG00000104447		0.433	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0.00	63	0	G	NM_014112		116617135	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
TSPAN14	81619	genome.wustl.edu	37	10	82279032	82279032	+	3'UTR	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:82279032C>T	ENST00000429989.3	+	0	2336				TSPAN14_ENST00000372164.3_3'UTR|TSPAN14_ENST00000265450.5_3'UTR	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14						establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			AATGGGATATCGGTGATCACT	0.547																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.*1300C>T	10.37:g.82279032C>T			A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	RNA	SNP	-	NULL	ENST00000429989.3	37	NULL	CCDS7369.1	10																																																																																			TSPAN14	-	-	ENSG00000108219		0.547	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2	-	0.00	22	0	C	NM_030927		82279032	+1	tier1	-	no_errors	ENST00000265450	ensembl	human	known	74_37	rna	29.17	17	7	SNP	0.000	T
TTC23	64927	genome.wustl.edu	37	15	99768821	99768821	+	Missense_Mutation	SNP	G	G	T	rs369672506		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:99768821G>T	ENST00000394132.2	-	5	914	c.97C>A	c.(97-99)Ctt>Att	p.L33I	TTC23_ENST00000262074.4_Missense_Mutation_p.L33I|TTC23_ENST00000394136.1_Missense_Mutation_p.L33I|TTC23_ENST00000394135.3_Missense_Mutation_p.L33I|TTC23_ENST00000394130.1_Missense_Mutation_p.L33I|TTC23_ENST00000558663.1_Missense_Mutation_p.L33I|TTC23_ENST00000394129.2_Missense_Mutation_p.L33I|TTC23_ENST00000558613.1_Missense_Mutation_p.L33I			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	33										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GCTGTCTGAAGCAGCTTGTTT	0.428																																																	0								G	ILE/LEU,ILE/LEU,ILE/LEU,ILE/LEU,ILE/LEU,ILE/LEU,ILE/LEU	1,4393	2.1+/-5.4	0,1,2196	144.0	142.0	143.0		97,97,97,97,97,97,97	4.0	0.9	15		143	0,8594		0,0,4297	no	missense,missense,missense,missense,missense,missense,missense	TTC23	NM_001040655.1,NM_001040656.1,NM_001040657.1,NM_001040658.1,NM_001040659.1,NM_001040660.1,NM_022905.4	5,5,5,5,5,5,5	0,1,6493	TT,TG,GG		0.0,0.0228,0.0077	benign,benign,benign,benign,benign,benign,benign	33/448,33/448,33/448,33/448,33/448,33/448,33/448	99768821	1,12987	2197	4297	6494	SO:0001583	missense	0				CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.97C>A	15.37:g.99768821G>T	ENSP00000377690:p.Leu33Ile		A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	smart_TPR_repeat	p.L33I	ENST00000394132.2	37	c.97	CCDS10379.2	15	.	.	.	.	.	.	.	.	.	.	G	4.385	0.071051	0.08436	2.28E-4	0.0	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.87	3.97	0.46021	.	0.660393	0.15676	N	0.250114	T	0.32436	0.0829	L	0.36672	1.1	0.22142	N	0.999336	B;B	0.21905	0.062;0.037	B;B	0.21917	0.037;0.017	T	0.18335	-1.0340	10	0.16896	T	0.51	-1.4539	12.1971	0.54303	0.0:0.0:0.6912:0.3088	.	33;33	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	I	33	ENSP00000377690:L33I;ENSP00000377693:L33I;ENSP00000262074:L33I;ENSP00000377692:L33I;ENSP00000377688:L33I;ENSP00000457901:L33I	ENSP00000262074:L33I	L	-	1	0	TTC23	97586344	0.960000	0.32886	0.869000	0.34112	0.048000	0.14542	1.174000	0.31932	0.895000	0.36342	0.655000	0.94253	CTT	TTC23	-	NULL	ENSG00000103852		0.428	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23	HGNC	protein_coding	OTTHUMT00000303953.2	-	0.00	55	0	G	NM_022905		99768821	-1	tier1	-	no_errors	ENST00000262074	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.851	T
TTC3	7267	genome.wustl.edu	37	21	38516931	38516931	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr21:38516931C>T	ENST00000399017.2	+	21	4626	c.1879C>T	c.(1879-1881)Cca>Tca	p.P627S	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.P627S|TTC3_ENST00000354749.2_Missense_Mutation_p.P627S|TTC3_ENST00000540756.1_Missense_Mutation_p.P317S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	627					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGAGTCTCAGCCACAAAAAAT	0.408																																					Ovarian(38;194 1649 35661)												0													137.0	131.0	133.0					21																	38516931		2203	4300	6503	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1879C>T	21.37:g.38516931C>T	ENSP00000381981:p.Pro627Ser		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.P627S	ENST00000399017.2	37	c.1879	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993877	0.35131	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.50001	2.58;0.78;2.6;2.9;0.76;2.9;2.9	5.17	3.23	0.37069	.	0.328493	0.26481	N	0.024126	T	0.44685	0.1305	N	0.17082	0.46	0.29406	N	0.861614	B;D	0.89917	0.147;1.0	B;D	0.83275	0.021;0.996	T	0.29941	-0.9995	10	0.37606	T	0.19	-16.7947	4.9399	0.13960	0.1849:0.6044:0.1263:0.0844	.	317;627	B4DSZ9;P53804	.;TTC3_HUMAN	S	627;627;609;627;317;627;627	ENSP00000403943:P627S;ENSP00000408456:P627S;ENSP00000391891:P609S;ENSP00000347889:P627S;ENSP00000442875:P317S;ENSP00000381981:P627S;ENSP00000346791:P627S	ENSP00000346791:P627S	P	+	1	0	TTC3	37438801	0.436000	0.25586	0.975000	0.42487	0.985000	0.73830	0.892000	0.28322	2.561000	0.86390	0.655000	0.94253	CCA	TTC3	-	NULL	ENSG00000182670		0.408	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	-	0.00	68	0	C			38516931	+1	tier1	-	no_errors	ENST00000354749	ensembl	human	known	74_37	missense	32.39	48	23	SNP	0.577	T
TTC39A	22996	genome.wustl.edu	37	1	51756283	51756283	+	Silent	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:51756283G>T	ENST00000447632.2	-	15	1437	c.1389C>A	c.(1387-1389)atC>atA	p.I463I	TTC39A_ENST00000530004.1_Silent_p.I71I|TTC39A_ENST00000451380.1_Silent_p.I427I|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000371750.5_Silent_p.I428I|TTC39A_ENST00000413473.2_Silent_p.I431I|TTC39A_ENST00000262675.7_Silent_p.I400I			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	463								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AGCCGTTCCAGATGTACATCA	0.507																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											48.0	47.0	47.0					1																	51756283		1906	4122	6028	SO:0001819	synonymous_variant	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1389C>A	1.37:g.51756283G>T			B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Silent	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.I463	ENST00000447632.2	37	c.1389		1																																																																																			TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.507	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2		0.00	55	0	G			51756283	-1			no_errors	ENST00000447632	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.991	T
TTN	7273	genome.wustl.edu	37	2	179391940	179391940	+	Silent	SNP	G	G	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:179391940G>C	ENST00000591111.1	-	313	103076	c.102852C>G	c.(102850-102852)acC>acG	p.T34284T	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000589042.1_Silent_p.T35925T|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.T33357T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.T26860T|TTN_ENST00000359218.5_Silent_p.T26985T|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Silent_p.T27052T			Q8WZ42	TITIN_HUMAN	titin	34284	Ig-like 152.				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)			TTACTTCTGGGGTAGGCTCAC	0.448																																																	0													131.0	113.0	118.0					2																	179391940		1904	4108	6012	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102852C>G	2.37:g.179391940G>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T33357	ENST00000591111.1	37	c.100071		2																																																																																			TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	70	0	G	NM_133378		179391940	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	24.24	50	16	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179417237	179417237	+	Silent	SNP	T	T	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:179417237T>C	ENST00000591111.1	-	285	85691	c.85467A>G	c.(85465-85467)gaA>gaG	p.E28489E	RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.E30130E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.E27562E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.E21065E|TTN_ENST00000359218.5_Silent_p.E21190E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.E21257E			Q8WZ42	TITIN_HUMAN	titin	28489	Ig-like 132.				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)			ACAGGTCAACTTCAGGTGTAA	0.433																																																	0													76.0	73.0	74.0					2																	179417237		1890	4118	6008	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85467A>G	2.37:g.179417237T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E27562	ENST00000591111.1	37	c.82686		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	46	0	T	NM_133378		179417237	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	25.64	29	10	SNP	0.383	C
TTN	7273	genome.wustl.edu	37	2	179542443	179542443	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:179542443G>T	ENST00000591111.1	-	144	33469	c.33245C>A	c.(33244-33246)cCt>cAt	p.P11082H	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11399H|TTN_ENST00000342992.6_Missense_Mutation_p.P10155H|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	10212	Glu-rich.|Pro-rich.				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)			TTCTTCGGGAGGAACTTCCTC	0.448																																																	0													100.0	99.0	100.0					2																	179542443		1860	4080	5940	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.33245C>A	2.37:g.179542443G>T	ENSP00000465570:p.Pro11082His		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.P10155H	ENST00000591111.1	37	c.30464		2	.	.	.	.	.	.	.	.	.	.	G	8.442	0.850984	0.17034	.	.	ENSG00000155657	ENST00000342992	T	0.69435	-0.4	3.8	1.93	0.25924	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.51092	0.1654	.	.	.	0.09310	N	0.999999	B	0.29716	0.255	B	0.27076	0.076	T	0.48937	-0.8990	8	0.87932	D	0	.	3.8812	0.09079	0.2854:0.0:0.5403:0.1743	.	11082	Q8WZ42	TITIN_HUMAN	H	10155	ENSP00000343764:P10155H	ENSP00000343764:P10155H	P	-	2	0	TTN	179250688	0.000000	0.05858	0.834000	0.33040	0.945000	0.59286	-0.334000	0.07883	0.715000	0.32103	0.609000	0.83330	CCT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	98	0	G	NM_133378		179542443	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	14.85	86	15	SNP	0.016	T
TTN	7273	genome.wustl.edu	37	2	179605889	179605889	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:179605889G>T	ENST00000591111.1	-	46	11344	c.11120C>A	c.(11119-11121)gCa>gAa	p.A3707E	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A4024E|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.A3661E|TTN_ENST00000359218.5_Missense_Mutation_p.A3786E|TTN_ENST00000342175.6_Missense_Mutation_p.A3853E			Q8WZ42	TITIN_HUMAN	titin	14009	Ig-like 22.				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)			AAGCAGCTCTGCTGCACAGGT	0.493																																																	0													88.0	89.0	89.0					2																	179605889		1916	4136	6052	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.11120C>A	2.37:g.179605889G>T	ENSP00000465570:p.Ala3707Glu		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_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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.A3853E	ENST00000591111.1	37	c.11558		2	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684299	0.29872	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.71103	-0.54;-0.54;-0.54	5.87	5.87	0.94306	.	.	.	.	.	D	0.86343	0.5910	M	0.92122	3.275	0.38917	D	0.957659	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.65323	0.934;0.934;0.934	D	0.89500	0.3763	9	0.87932	D	0	.	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	3661;3786;3853	D3DPF9;E7EQE6;E7ET18	.;.;.	E	3661;3853;3786;3661	ENSP00000434586:A3661E;ENSP00000340554:A3853E;ENSP00000352154:A3786E	ENSP00000340554:A3853E	A	-	2	0	TTN	179314134	1.000000	0.71417	0.981000	0.43875	0.182000	0.23217	6.629000	0.74267	2.941000	0.99782	0.655000	0.94253	GCA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	39	0	G	NM_133378		179605889	-1			no_errors	ENST00000342175	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
UNC5D	137970	genome.wustl.edu	37	8	35588557	35588557	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:35588557C>T	ENST00000404895.2	+	11	2037	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V	UNC5D_ENST00000420357.1_Missense_Mutation_p.A503V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A565V|UNC5D_ENST00000287272.2_Missense_Mutation_p.A501V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A146V|UNC5D_ENST00000416672.1_Missense_Mutation_p.A575V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	570	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCACACGGTGCCATCCCAGAG	0.428																																																	0													95.0	94.0	94.0					8																	35588557		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1709C>T	8.37:g.35588557C>T	ENSP00000385143:p.Ala570Val		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.A570V	ENST00000404895.2	37	c.1709	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459866	0.84317	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.79	5.79	0.91817	ZU5 (2);	0.046598	0.85682	D	0.000000	T	0.73999	0.3659	M	0.85710	2.77	0.80722	D	1	D;P;D	0.61080	0.989;0.873;0.961	P;P;P	0.60236	0.871;0.544;0.673	T	0.77945	-0.2397	10	0.87932	D	0	-24.3952	18.2119	0.89873	0.0:1.0:0.0:0.0	.	146;565;570	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	570;503;501;575;565;146	ENSP00000385143:A570V;ENSP00000392739:A503V;ENSP00000287272:A501V;ENSP00000412652:A575V;ENSP00000394303:A565V;ENSP00000397211:A146V	ENSP00000287272:A501V	A	+	2	0	UNC5D	35708099	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	4.307000	0.59123	2.746000	0.94184	0.655000	0.94253	GCC	UNC5D	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000156687		0.428	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2		0.00	92	0	C			35588557	+1			no_errors	ENST00000404895	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216138700	216138700	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:216138700G>T	ENST00000307340.3	-	37	7465	c.7079C>A	c.(7078-7080)aCa>aAa	p.T2360K	USH2A_ENST00000366943.2_Missense_Mutation_p.T2360K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2360	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACTGAGTGTGTTAAGAGTCC	0.388										HNSCC(13;0.011)																																							0													143.0	141.0	142.0					1																	216138700		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7079C>A	1.37:g.216138700G>T	ENSP00000305941:p.Thr2360Lys		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T2360K	ENST00000307340.3	37	c.7079	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576744	0.45902	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56941	0.43;0.43	5.56	2.67	0.31697	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.177658	0.27262	N	0.020176	T	0.49915	0.1585	M	0.66939	2.045	0.09310	N	1	P	0.43477	0.808	B	0.41860	0.368	T	0.43653	-0.9378	10	0.44086	T	0.13	.	10.1833	0.42982	0.2547:0.0:0.7453:0.0	.	2360	O75445	USH2A_HUMAN	K	2360	ENSP00000305941:T2360K;ENSP00000355910:T2360K	ENSP00000305941:T2360K	T	-	2	0	USH2A	214205323	0.827000	0.29292	0.013000	0.15412	0.091000	0.18340	1.261000	0.32980	0.839000	0.34971	0.655000	0.94253	ACA	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	70	0	G	NM_007123		216138700	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	9.64	75	8	SNP	0.045	T
USH2A	7399	genome.wustl.edu	37	1	216373317	216373317	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:216373317T>G	ENST00000307340.3	-	17	3849	c.3463A>C	c.(3463-3465)Agt>Cgt	p.S1155R	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.S1155R|USH2A_ENST00000366942.3_Missense_Mutation_p.S1155R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1155	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S1155R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGATATAACTTAAAGTCAAG	0.428										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	large_intestine(1)											103.0	102.0	102.0					1																	216373317		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3463A>C	1.37:g.216373317T>G	ENSP00000305941:p.Ser1155Arg		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S1155R	ENST00000307340.3	37	c.3463	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942826	0.53079	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.53640	2.56;0.61;0.61	6.02	3.53	0.40419	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.476907	0.17534	N	0.170798	T	0.47563	0.1452	L	0.54323	1.7	0.21675	N	0.999594	P;P	0.50369	0.7;0.934	B;P	0.50537	0.207;0.643	T	0.27088	-1.0084	10	0.24483	T	0.36	.	8.3591	0.32348	0.1177:0.0:0.2256:0.6568	.	1155;1155	O75445-2;O75445	.;USH2A_HUMAN	R	1155	ENSP00000305941:S1155R;ENSP00000355910:S1155R;ENSP00000355909:S1155R	ENSP00000305941:S1155R	S	-	1	0	USH2A	214439940	0.138000	0.22547	0.944000	0.38274	0.982000	0.71751	1.307000	0.33516	2.311000	0.77944	0.533000	0.62120	AGT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	76	0	T	NM_007123		216373317	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	18.52	66	15	SNP	0.684	G
USP16	10600	genome.wustl.edu	37	21	30402977	30402977	+	Silent	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr21:30402977G>T	ENST00000334352.4	+	4	354	c.123G>T	c.(121-123)gtG>gtT	p.V41V	USP16_ENST00000399975.3_Silent_p.V41V|USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Silent_p.V41V	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGGCTTTAGTGAATGTGGAAT	0.348																																					Melanoma(92;625 1444 27493 34101 44971)												0													90.0	89.0	90.0					21																	30402977		2203	4300	6503	SO:0001819	synonymous_variant	0			AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.123G>T	21.37:g.30402977G>T				Silent	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.V41	ENST00000334352.4	37	c.123	CCDS13583.1	21																																																																																			USP16	-	NULL	ENSG00000156256		0.348	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	USP16	HGNC	protein_coding	OTTHUMT00000171847.1	-	0.00	105	0	G			30402977	+1	tier1	-	no_errors	ENST00000334352	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.986	T
UTP20	27340	genome.wustl.edu	37	12	101702064	101702064	+	Silent	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:101702064G>A	ENST00000261637.4	+	18	2271	c.2097G>A	c.(2095-2097)ttG>ttA	p.L699L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	699					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTCTTCATTTGAGAAAACTAA	0.408																																																	0													110.0	108.0	109.0					12																	101702064		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2097G>A	12.37:g.101702064G>A			Q9H3H4	Silent	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.L699	ENST00000261637.4	37	c.2097	CCDS9081.1	12																																																																																			UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.408	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	0.00	58	0	G	NM_014503		101702064	+1	tier1	-	no_errors	ENST00000261637	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.736	A
VASH1	22846	genome.wustl.edu	37	14	77242338	77242338	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:77242338G>A	ENST00000167106.4	+	5	1267	c.634G>A	c.(634-636)Gcg>Acg	p.A212T	VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA|RP11-488C13.7_ENST00000553758.1_lincRNA|VASH1_ENST00000554743.1_5'Flank	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	212					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GGTGAACTTCGCGGGCCGCTA	0.642																																																	0													26.0	23.0	24.0					14																	77242338		2203	4300	6503	SO:0001583	missense	0			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.634G>A	14.37:g.77242338G>A	ENSP00000167106:p.Ala212Thr		Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	NULL	p.A212T	ENST00000167106.4	37	c.634	CCDS9851.1	14	.	.	.	.	.	.	.	.	.	.	G	5.959	0.360876	0.11296	.	.	ENSG00000071246	ENST00000167106	.	.	.	5.22	4.33	0.51752	.	0.144785	0.64402	D	0.000007	T	0.25306	0.0615	N	0.02539	-0.55	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.05068	-1.0908	9	0.31617	T	0.26	-10.366	8.8608	0.35256	0.0745:0.0:0.7751:0.1504	.	212	Q7L8A9	VASH1_HUMAN	T	212	.	ENSP00000167106:A212T	A	+	1	0	VASH1	76312091	1.000000	0.71417	0.999000	0.59377	0.375000	0.29983	8.005000	0.88553	1.207000	0.43291	-0.127000	0.14921	GCG	VASH1	-	NULL	ENSG00000071246		0.642	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	HGNC	protein_coding	OTTHUMT00000413706.1	-	0.00	83	0	G	NM_014909		77242338	+1	tier1	-	no_errors	ENST00000167106	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	A
VIP	7432	genome.wustl.edu	37	6	153075359	153075359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:153075359G>T	ENST00000367244.3	+	3	338	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	VIP_ENST00000367243.3_Nonsense_Mutation_p.E56*	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	56					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TTCATTAAAAGAAGACATTGA	0.343																																																	0													87.0	84.0	85.0					6																	153075359		2203	4299	6502	SO:0001587	stop_gained	0				CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.166G>T	6.37:g.153075359G>T	ENSP00000356213:p.Glu56*		Q5TCY8|Q5TCY9|Q96QK3	Nonsense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.E56*	ENST00000367244.3	37	c.166	CCDS5240.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981361|3.981361	0.74474|0.74474	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000367244;ENST00000367243|ENST00000431366	.|.	.|.	.|.	5.69|5.69	0.227|0.227	0.15359|0.15359	.|.	0.888159|.	0.09836|.	N|.	0.749518|.	.|T	.|0.11067	.|0.0270	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24657	.|-1.0154	.|3	0.35671|.	T|.	0.21|.	.|.	1.7788|1.7788	0.03027|0.03027	0.1432:0.1896:0.2565:0.4107|0.1432:0.1896:0.2565:0.4107	.|.	.|.	.|.	.|.	X|I	56|5	.|.	ENSP00000356212:E56X|.	E|R	+|+	1|2	0|0	VIP|VIP	153117052|153117052	0.000000|0.000000	0.05858|0.05858	0.962000|0.962000	0.40283|0.40283	0.108000|0.108000	0.19459|0.19459	-0.505000|-0.505000	0.06367|0.06367	0.287000|0.287000	0.22375|0.22375	-0.225000|-0.225000	0.12378|0.12378	GAA|AGA	VIP	-	NULL	ENSG00000146469		0.343	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VIP	HGNC	protein_coding	OTTHUMT00000042751.1		0.00	64	0	G			153075359	+1			no_errors	ENST00000367244	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	0.130	T
XIRP2	129446	genome.wustl.edu	37	2	168100467	168100467	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:168100467A>C	ENST00000409195.1	+	9	2654	c.2565A>C	c.(2563-2565)gaA>gaC	p.E855D	XIRP2_ENST00000409273.1_Missense_Mutation_p.E633D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E855D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	680					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCTAAAAGAAGTTCCTGATG	0.363																																																	0													109.0	108.0	108.0					2																	168100467		1844	4096	5940	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2565A>C	2.37:g.168100467A>C	ENSP00000386840:p.Glu855Asp		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.E855D	ENST00000409195.1	37	c.2565	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	1.926	-0.447051	0.04572	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02579	4.24;4.24;4.24	5.83	1.89	0.25635	.	0.408783	0.28600	N	0.014771	T	0.01940	0.0061	N	0.21373	0.66	0.20307	N	0.999916	B;B;B	0.12013	0.005;0.001;0.001	B;B;B	0.11329	0.006;0.003;0.003	T	0.49476	-0.8936	10	0.15952	T	0.53	-3.3885	6.4892	0.22105	0.4851:0.2623:0.0:0.2526	.	680;680;633	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	855;855;633	ENSP00000386840:E855D;ENSP00000295237:E855D;ENSP00000387255:E633D	ENSP00000295237:E855D	E	+	3	2	XIRP2	167808713	0.006000	0.16342	0.128000	0.21923	0.930000	0.56654	0.156000	0.16382	0.067000	0.16545	0.533000	0.62120	GAA	XIRP2	-	NULL	ENSG00000163092		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0.00	55	0	A	NM_152381		168100467	+1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.352	C
WDFY1	57590	genome.wustl.edu	37	2	224760340	224760340	+	Silent	SNP	G	G	A	rs374832636		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:224760340G>A	ENST00000233055.4	-	7	708	c.606C>T	c.(604-606)gtC>gtT	p.V202V		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	202						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)	p.V202V(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AGAGGCAGGCGACACTACCTA	0.512																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		1,4405	2.1+/-5.4	0,1,2202	53.0	49.0	50.0		606	-0.3	0.1	2		50	0,8600		0,0,4300	no	coding-synonymous	WDFY1	NM_020830.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		202/411	224760340	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.606C>T	2.37:g.224760340G>A			Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V202	ENST00000233055.4	37	c.606	CCDS33387.1	2																																																																																			WDFY1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085449		0.512	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY1	HGNC	protein_coding	OTTHUMT00000330908.1		0.00	48	0	G	NM_020830		224760340	-1			no_errors	ENST00000233055	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.970	A
XPO6	23214	genome.wustl.edu	37	16	28117395	28117395	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:28117395C>T	ENST00000304658.5	-	20	3253	c.2753G>A	c.(2752-2754)tGc>tAc	p.C918Y	XPO6_ENST00000565698.1_Missense_Mutation_p.C904Y	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	918					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTGCTCCATGCACAGGGCGAT	0.592																																																	0													113.0	122.0	119.0					16																	28117395		2058	4203	6261	SO:0001583	missense	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2753G>A	16.37:g.28117395C>T	ENSP00000302790:p.Cys918Tyr		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.C918Y	ENST00000304658.5	37	c.2753	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041841	0.93685	.	.	ENSG00000169180	ENST00000304658	T	0.66280	-0.2	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.042623	0.85682	D	0.000000	T	0.76593	0.4009	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.69142	0.962;0.862	T	0.75863	-0.3167	10	0.51188	T	0.08	-10.6293	17.5557	0.87889	0.0:1.0:0.0:0.0	.	918;918	B7ZM10;Q96QU8	.;XPO6_HUMAN	Y	918	ENSP00000302790:C918Y	ENSP00000302790:C918Y	C	-	2	0	XPO6	28024896	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.776000	0.85560	2.826000	0.97356	0.561000	0.74099	TGC	XPO6	-	superfamily_ARM-type_fold	ENSG00000169180		0.592	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	-	0.00	63	0	C	XM_055195		28117395	-1	tier1	-	no_errors	ENST00000304658	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
YES1	7525	genome.wustl.edu	37	18	724581	724581	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr18:724581G>A	ENST00000584307.1	-	12	1645	c.1475C>T	c.(1474-1476)cCg>cTg	p.P492L	YES1_ENST00000577961.1_Missense_Mutation_p.P497L|YES1_ENST00000314574.4_Missense_Mutation_p.P492L			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	492	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CTGAGGGCACGGCATCCTGTA	0.423																																																	0													92.0	94.0	94.0					18																	724581		2203	4300	6503	SO:0001583	missense	0			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1475C>T	18.37:g.724581G>A	ENSP00000462468:p.Pro492Leu		A6NLB3|D3DUH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.P492L	ENST00000584307.1	37	c.1475	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495736	0.64186	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.83075	-1.68	4.95	4.95	0.65309	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	D	0.91760	0.5419	10	0.87932	D	0	.	18.5435	0.91038	0.0:0.0:1.0:0.0	.	492	P07947	YES_HUMAN	L	492	ENSP00000324740:P492L	ENSP00000324740:P492L	P	-	2	0	YES1	714581	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.510000	0.98004	2.468000	0.83385	0.591000	0.81541	CCG	YES1	-	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	ENSG00000176105		0.423	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	HGNC	protein_coding	OTTHUMT00000440827.2	-	0.00	81	0	G	NM_005433		724581	-1	tier1	-	no_errors	ENST00000314574	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	A
YIPF2	78992	genome.wustl.edu	37	19	11034194	11034194	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:11034194C>T	ENST00000586748.1	-	8	983	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	YIPF2_ENST00000590329.1_Missense_Mutation_p.A232T|YIPF2_ENST00000253031.2_Missense_Mutation_p.A271T			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	271						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GCCAGGAGGGCGTGGAGCAGC	0.706																																																	0													44.0	47.0	46.0					19																	11034194		2203	4298	6501	SO:0001583	missense	0			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.811G>A	19.37:g.11034194C>T	ENSP00000466055:p.Ala271Thr			Missense_Mutation	SNP	pfam_Yip1	p.A271T	ENST00000586748.1	37	c.811	CCDS12251.1	19	.	.	.	.	.	.	.	.	.	.	C	1.928	-0.446641	0.04572	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.7	1.23	0.21249	.	0.311359	0.34652	N	0.003792	T	0.35770	0.0943	L	0.52759	1.655	0.09310	N	1	B	0.22003	0.063	B	0.12837	0.008	T	0.19095	-1.0316	9	0.30078	T	0.28	-15.9809	7.7912	0.29121	0.2863:0.6348:0.0:0.0789	.	271	Q9BWQ6	YIPF2_HUMAN	T	271	.	ENSP00000253031:A271T	A	-	1	0	YIPF2	10895194	0.003000	0.15002	0.012000	0.15200	0.000000	0.00434	0.175000	0.16762	0.178000	0.19917	-0.181000	0.13052	GCC	YIPF2	-	NULL	ENSG00000130733		0.706	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YIPF2	HGNC	protein_coding	OTTHUMT00000453045.1	-	0.00	79	0	C	NM_024029		11034194	-1	tier1	-	no_errors	ENST00000253031	ensembl	human	known	74_37	missense	20.00	52	13	SNP	0.054	T
ZFHX3	463	genome.wustl.edu	37	16	72992173	72992173	+	Silent	SNP	G	G	T	rs148573491	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:72992173G>T	ENST00000268489.5	-	2	2544	c.1872C>A	c.(1870-1872)ggC>ggA	p.G624G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	624					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGCAGAGGGAGCCAGCGTGCT	0.632																																																	0													69.0	63.0	65.0					16																	72992173		2198	4300	6498	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1872C>A	16.37:g.72992173G>T			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.G624	ENST00000268489.5	37	c.1872	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.632	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0.00	44	0	G	NM_006885		72992173	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T
ZFYVE28	57732	genome.wustl.edu	37	4	2306473	2306473	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:2306473C>T	ENST00000290974.2	-	8	1933	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A502T|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A462T|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	532					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TCCTGGGTGGCGACCGCAGAG	0.652																																																	0													33.0	37.0	36.0					4																	2306473		2201	4284	6485	SO:0001583	missense	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1594G>A	4.37:g.2306473C>T	ENSP00000290974:p.Ala532Thr		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.A532T	ENST00000290974.2	37	c.1594	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	C	1.607	-0.524936	0.04141	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.57595	0.39;0.39;0.39	4.02	-8.03	0.01114	.	0.981567	0.08354	N	0.958824	T	0.16214	0.0390	N	0.02391	-0.57	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.18808	-1.0325	10	0.02654	T	1	.	5.6199	0.17451	0.4087:0.122:0.0:0.4693	.	502;532	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	T	532;502;462	ENSP00000290974:A532T;ENSP00000425706:A502T;ENSP00000426299:A462T	ENSP00000290974:A532T	A	-	1	0	ZFYVE28	2276271	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.381000	0.07417	-2.234000	0.00715	-0.861000	0.03010	GCC	ZFYVE28	-	NULL	ENSG00000159733		0.652	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	-	0.00	36	0	C	XM_035371		2306473	-1	tier1	-	no_errors	ENST00000290974	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.000	T
ZHX1	11244	genome.wustl.edu	37	8	124268346	124268346	+	5'UTR	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:124268346G>T	ENST00000522655.1	-	0	381				ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_5'UTR|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000297857.2_5'UTR			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1						cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATCAAGTAAAGAGCTTATTGT	0.318																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.-160C>A	8.37:g.124268346G>T			Q8IWD8	RNA	SNP	-	NULL	ENST00000522655.1	37	NULL	CCDS6342.1	8																																																																																			ZHX1	-	-	ENSG00000165156		0.318	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	-	0.00	60	0	G			124268346	-1	tier1	-	no_errors	ENST00000522595	ensembl	human	known	74_37	rna	6.15	61	4	SNP	0.991	T
ZNF454	285676	genome.wustl.edu	37	5	178392111	178392111	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:178392111A>G	ENST00000320129.3	+	5	1009	c.706A>G	c.(706-708)Aga>Gga	p.R236G	ZNF454_ENST00000519564.1_Missense_Mutation_p.R236G	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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)	all cancers(165;0.234)		CCATCACCAAAGAATTCACAC	0.398																																																	0													98.0	103.0	102.0					5																	178392111		2203	4300	6503	SO:0001583	missense	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.706A>G	5.37:g.178392111A>G	ENSP00000326249:p.Arg236Gly		Q2M1P2|Q2M323	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.R236G	ENST00000320129.3	37	c.706	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980293	0.74474	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.24723	1.84;1.84	4.46	4.46	0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43110	D	0.000610	T	0.41050	0.1142	M	0.72479	2.2	0.38649	D	0.951804	D	0.61080	0.989	P	0.54346	0.749	T	0.50083	-0.8869	10	0.87932	D	0	-25.0624	12.0154	0.53311	1.0:0.0:0.0:0.0	.	236	Q8N9F8	ZN454_HUMAN	G	236	ENSP00000326249:R236G;ENSP00000430354:R236G	ENSP00000326249:R236G	R	+	1	2	ZNF454	178324717	0.007000	0.16637	1.000000	0.80357	0.971000	0.66376	2.441000	0.44864	1.999000	0.58509	0.454000	0.30748	AGA	ZNF454	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178187		0.398	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	-	0.00	63	0	A	XM_209718		178392111	+1	tier1	-	no_errors	ENST00000320129	ensembl	human	known	74_37	missense	40.74	16	11	SNP	1.000	G
ZNF732	654254	genome.wustl.edu	37	4	265103	265103	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:265103T>C	ENST00000419098.1	-	4	1553	c.1543A>G	c.(1543-1545)Aca>Gca	p.T515A		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	515					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)|lung(2)	3						CTCAGGTATGTGGACCATCCA	0.388																																																	0													74.0	66.0	68.0					4																	265103		692	1591	2283	SO:0001583	missense	0			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1543A>G	4.37:g.265103T>C	ENSP00000415774:p.Thr515Ala			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.T515A	ENST00000419098.1	37	c.1543	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	T	4.709	0.131914	0.08981	.	.	ENSG00000186777	ENST00000419098	T	0.07114	3.22	0.977	-1.95	0.07548	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.38200	-0.9672	9	0.56958	D	0.05	.	4.0207	0.09664	0.4203:0.0:0.0:0.5797	.	515	B4DXR9	ZN732_HUMAN	A	515	ENSP00000415774:T515A	ENSP00000415774:T515A	T	-	1	0	ZNF732	255103	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-1.147000	0.03188	-0.820000	0.04318	-0.903000	0.02851	ACA	ZNF732	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186777		0.388	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2		0.00	56	0	T	NM_001137608		265103	-1			no_errors	ENST00000419098	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.001	C
ZNF783	100289678	genome.wustl.edu	37	7	148987050	148987050	+	3'UTR	SNP	A	A	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:148987050A>T	ENST00000489518.1	+	0	474				ZNF783_ENST00000418158.2_Intron|RP4-800G7.2_ENST00000416232.1_RNA			Q6ZMS7	ZN783_HUMAN	zinc finger family member 783						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ACCAAGCCAGATCTGGCACCA	0.652																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000489518.1:c.*471A>T	7.37:g.148987050A>T			C9J9J2	Missense_Mutation	SNP	NULL	p.R68S	ENST00000489518.1	37	c.204		7																																																																																			ZNF783	-	NULL	ENSG00000204946		0.652	ZNF783-005	KNOWN	basic	processed_transcript	ZNF783	HGNC	protein_coding	OTTHUMT00000352719.2	-	0.00	67	0	A	NM_001195220		148987050	+1	tier1	-	no_errors	ENST00000481519	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.001	T
ZNF790	388536	genome.wustl.edu	37	19	37310980	37310980	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:37310980G>T	ENST00000356725.4	-	5	386	c.266C>A	c.(265-267)cCa>cAa	p.P89Q	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	89					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCCATTTTTTGGTAATAACTT	0.343																																																	0													56.0	57.0	57.0					19																	37310980		2203	4300	6503	SO:0001583	missense	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.266C>A	19.37:g.37310980G>T	ENSP00000349161:p.Pro89Gln			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.P89Q	ENST00000356725.4	37	c.266	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345149	0.05208	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.06608	3.28;6.12;5.72	3.08	0.472	0.16758	.	.	.	.	.	T	0.04003	0.0112	N	0.19112	0.55	0.09310	N	1	B	0.18968	0.032	B	0.16289	0.015	T	0.42464	-0.9450	9	0.38643	T	0.18	.	5.4071	0.16328	0.0:0.2022:0.5039:0.2939	.	89	Q6PG37	ZN790_HUMAN	Q	89	ENSP00000349161:P89Q;ENSP00000435944:P89Q;ENSP00000433389:P89Q	ENSP00000349161:P89Q	P	-	2	0	ZNF790	42002820	0.017000	0.18338	0.004000	0.12327	0.270000	0.26580	-0.192000	0.09587	0.021000	0.15133	0.484000	0.47621	CCA	ZNF790	-	NULL	ENSG00000197863		0.343	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	-	0.00	77	0	G	NM_206894		37310980	-1	tier1	-	no_errors	ENST00000356725	ensembl	human	known	74_37	missense	26.32	56	20	SNP	0.006	T
ZNF804B	219578	genome.wustl.edu	37	7	88847525	88847525	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:88847525T>G	ENST00000333190.4	+	2	774	c.165T>G	c.(163-165)ttT>ttG	p.F55L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	55							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGGCAAACTTTTACTGTGAAT	0.363										HNSCC(36;0.09)																																							0													96.0	93.0	94.0					7																	88847525		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.165T>G	7.37:g.88847525T>G	ENSP00000329638:p.Phe55Leu		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.F55L	ENST00000333190.4	37	c.165	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194958	0.78902	.	.	ENSG00000182348	ENST00000333190	T	0.33216	1.42	5.31	-1.26	0.09376	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);	0.000000	0.64402	D	0.000004	T	0.54759	0.1878	M	0.85462	2.755	0.41121	D	0.985814	D	0.89917	1.0	D	0.97110	1.0	T	0.60632	-0.7225	10	0.87932	D	0	-13.2578	12.7426	0.57261	0.0:0.6449:0.0:0.3551	.	55	A4D1E1	Z804B_HUMAN	L	55	ENSP00000329638:F55L	ENSP00000329638:F55L	F	+	3	2	ZNF804B	88685461	0.997000	0.39634	0.992000	0.48379	0.988000	0.76386	0.474000	0.22148	-0.345000	0.08325	-0.534000	0.04291	TTT	ZNF804B	-	pfam_Znf_C2H2_jaz	ENSG00000182348		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0.00	95	0	T	NM_181646		88847525	+1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	44.74	42	34	SNP	1.000	G
ZNRF4	148066	genome.wustl.edu	37	19	5456047	5456047	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:5456047C>T	ENST00000222033.4	+	1	622	c.545C>T	c.(544-546)gCg>gTg	p.A182V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	182	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCTTCGAGGCGGCCATCGTG	0.652																																																	0													43.0	45.0	44.0					19																	5456047		2137	4243	6380	SO:0001583	missense	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.545C>T	19.37:g.5456047C>T	ENSP00000222033:p.Ala182Val		A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A182V	ENST00000222033.4	37	c.545	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901196	0.72754	.	.	ENSG00000105428	ENST00000222033	T	0.12465	2.68	4.65	4.65	0.58169	Protease-associated domain, PA (1);	0.000000	0.85682	U	0.000000	T	0.45296	0.1335	M	0.91818	3.245	0.48395	D	0.999643	D	0.89917	1.0	D	0.80764	0.994	T	0.57694	-0.7767	10	0.87932	D	0	-20.7566	14.2204	0.65823	0.0:1.0:0.0:0.0	.	182	Q8WWF5	ZNRF4_HUMAN	V	182	ENSP00000222033:A182V	ENSP00000222033:A182V	A	+	2	0	ZNRF4	5407047	0.917000	0.31117	0.050000	0.19076	0.389000	0.30415	2.037000	0.41174	2.140000	0.66376	0.491000	0.48974	GCG	ZNRF4	-	pfam_Protease-assoc_domain	ENSG00000105428		0.652	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	-	0.00	65	0	C	NM_181710		5456047	+1	tier1	-	no_errors	ENST00000222033	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.758	T
ZNF829	374899	genome.wustl.edu	37	19	37382649	37382649	+	Silent	SNP	A	A	C			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:37382649A>C	ENST00000391711.3	-	6	1408	c.1044T>G	c.(1042-1044)ggT>ggG	p.G348G	ZNF829_ENST00000520965.1_Silent_p.G429G|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	348					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(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGCTTCTCACCAGCATGAA	0.383																																																	0													64.0	67.0	66.0					19																	37382649		2194	4296	6490	SO:0001819	synonymous_variant	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1044T>G	19.37:g.37382649A>C			Q3KNS7|Q6ZNN0|Q7Z657	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.G429	ENST00000391711.3	37	c.1287	CCDS42557.1	19																																																																																			ZNF829	-	pfscan_Znf_C2H2	ENSG00000185869		0.383	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0.00	63	0	A	NM_001037232		37382649	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	silent	7.46	62	5	SNP	0.101	C
