#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_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_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA6	23460	genome.wustl.edu	37	17	67108351	67108351	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:67108351C>A	ENST00000284425.2	-	16	2279	c.2105G>T	c.(2104-2106)aGa>aTa	p.R702I		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	702	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACCCCACCTTCTTTTCAAAAA	0.368																																																	0													157.0	165.0	162.0					17																	67108351		2203	4300	6503	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2105G>T	17.37:g.67108351C>A	ENSP00000284425:p.Arg702Ile		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R702I	ENST00000284425.2	37	c.2105	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288013	0.40494	.	.	ENSG00000154262	ENST00000284425	T	0.58797	0.31	4.64	3.67	0.42095	ABC transporter-like (1);	0.107977	0.40908	D	0.000996	T	0.57636	0.2067	M	0.82630	2.6	0.80722	D	1	P	0.34587	0.458	B	0.28991	0.097	T	0.67814	-0.5573	10	0.72032	D	0.01	.	12.6619	0.56820	0.0:0.9148:0.0:0.0852	.	702	Q8N139	ABCA6_HUMAN	I	702	ENSP00000284425:R702I	ENSP00000284425:R702I	R	-	2	0	ABCA6	64619946	0.942000	0.31987	1.000000	0.80357	0.674000	0.39518	0.671000	0.25172	2.563000	0.86464	0.650000	0.86243	AGA	ABCA6	-	pfscan_ABC_transporter-like		0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	C	NM_080284		67108351	-1	no_errors	ENST00000284425	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCC2	1244	genome.wustl.edu	37	10	101557086	101557086	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr10:101557086C>A	ENST00000370449.4	+	7	978	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	ABCC2_ENST00000370434.1_Missense_Mutation_p.L289M	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	289					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)	TGCCCTTGTCCTGGTAACTTT	0.517																																																	0													50.0	35.0	40.0					10																	101557086		2202	4300	6502	SO:0001583	missense	1244			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.865C>A	10.37:g.101557086C>A	ENSP00000359478:p.Leu289Met		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.L289M	ENST00000370449.4	37	c.865	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300318	0.40694	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	D;T	0.89746	-2.56;3.43	5.61	4.6	0.57074	.	0.104089	0.64402	D	0.000009	T	0.81044	0.4741	L	0.43646	1.37	0.35513	D	0.800791	P	0.39759	0.687	B	0.34242	0.178	T	0.82047	-0.0651	10	0.29301	T	0.29	-1.0608	7.8907	0.29675	0.1608:0.7332:0.0:0.106	.	289	Q92887	MRP2_HUMAN	M	289	ENSP00000359478:L289M;ENSP00000359463:L289M	ENSP00000359463:L289M	L	+	1	2	ABCC2	101547076	0.952000	0.32445	1.000000	0.80357	0.914000	0.54420	0.510000	0.22723	2.635000	0.89317	0.555000	0.69702	CTG	ABCC2	-	tigrfam_Multidrug-R_assoc		0.517	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	C	NM_000392		101557086	+1	no_errors	ENST00000370449	ensembl	human	known	70_37	missense	SNP	0.997	A
ABR	29	genome.wustl.edu	37	17	1028642	1028642	+	Missense_Mutation	SNP	G	G	A	rs573239507		TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:1028642G>A	ENST00000302538.5	-	2	268	c.122C>T	c.(121-123)cCg>cTg	p.P41L	ABR_ENST00000574437.1_5'UTR|ABR_ENST00000544583.2_5'UTR	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	41					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P41fs*51(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGAGCCCTCCGGGGGCCCCTT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		12140	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(197;2016 2115 4129 29033 46447)												1	Deletion - Frameshift(1)	lung(1)											123.0	112.0	116.0					17																	1028642		2203	4300	6503	SO:0001583	missense	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.122C>T	17.37:g.1028642G>A	ENSP00000303909:p.Pro41Leu		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.P41L	ENST00000302538.5	37	c.122	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866848	0.51588	.	.	ENSG00000159842	ENST00000302538	T	0.18960	2.18	5.36	5.36	0.76844	.	0.208574	0.43919	D	0.000509	T	0.12944	0.0314	N	0.22421	0.69	0.80722	D	1	P	0.34955	0.477	B	0.21708	0.036	T	0.05451	-1.0884	10	0.54805	T	0.06	.	12.3384	0.55081	0.0:0.1702:0.8298:0.0	.	41	Q12979	ABR_HUMAN	L	41	ENSP00000303909:P41L	ENSP00000303909:P41L	P	-	2	0	ABR	975392	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	5.009000	0.63998	2.509000	0.84616	0.561000	0.74099	CCG	ABR	-	NULL		0.642	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	G			1028642	-1	no_errors	ENST00000302538	ensembl	human	known	70_37	missense	SNP	0.986	A
ANKFN1	162282	genome.wustl.edu	37	17	54526549	54526549	+	Splice_Site	SNP	T	T	C			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:54526549T>C	ENST00000318698.2	+	10	1251		c.e10+2		ANKFN1_ENST00000566473.2_Splice_Site	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1											NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTTGCCGGGGTAAGGATAAAA	0.512																																																	0													74.0	71.0	72.0					17																	54526549		2203	4300	6503	SO:0001630	splice_region_variant	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1216+2T>C	17.37:g.54526549T>C				Splice_Site	SNP	-	e10+2	ENST00000318698.2	37	c.1216+2	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	T	20.4	3.983662	0.74474	.	.	ENSG00000153930	ENST00000318698	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1629	0.72798	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKFN1	51881548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.201000	0.77847	1.992000	0.58205	0.533000	0.62120	.	ANKFN1	-	-		0.512	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	T	NM_153228	Intron	54526549	+1	no_errors	ENST00000318698	ensembl	human	known	70_37	splice_site	SNP	1.000	C
ANKRD18CP	100287922	genome.wustl.edu	37	9	99924198	99924198	+	IGR	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr9:99924198C>T								RP11-520B13.4 (79971 upstream) : RNU6-798P (31006 downstream)																							TTAGTGAAGCCGTATTATCCT	0.284																																																	0																																										SO:0001628	intergenic_variant	100287922																															9.37:g.99924198C>T				RNA	SNP	-	NULL		37	NULL		9																																																																																			ANKRD18CP	-	-	0	0.284					ANKRD18CP	HGNC			C			99924198	-1	no_errors	ENST00000354752	ensembl	human	known	70_37	rna	SNP	0.003	T
ANKUB1	389161	genome.wustl.edu	37	3	149485593	149485593	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr3:149485593G>T	ENST00000383050.3	-	5	1312	c.856C>A	c.(856-858)Cat>Aat	p.H286N	ANKUB1_ENST00000462519.2_Missense_Mutation_p.H286N|ANKUB1_ENST00000446160.1_Missense_Mutation_p.H286N			A6NFN9	ANKUB_HUMAN	ankyrin repeat and ubiquitin domain containing 1	286										breast(1)|kidney(1)|lung(1)|skin(1)	4						CAGTCTTTATGCTTGTGTTTG	0.373																																																	0													100.0	83.0	88.0					3																	149485593		692	1591	2283	SO:0001583	missense	389161			AK027233		3q25.1	2013-01-11	2011-05-10	2011-05-10	ENSG00000206199	ENSG00000206199		"""Ankyrin repeat domain containing"""	29642	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 16"""	C3orf16			Standard	NM_001144960		Approved		uc003exl.3	A6NFN9	OTTHUMG00000159615	ENST00000383050.3:c.856C>A	3.37:g.149485593G>T	ENSP00000372522:p.His286Asn		B4E2N8	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ubiquitin_supergroup	p.H286N	ENST00000383050.3	37	c.856		3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087442	0.76642	.	.	ENSG00000206199	ENST00000446160;ENST00000383050;ENST00000462519	T;T;T	0.64260	-0.09;-0.09;-0.09	5.25	5.25	0.73442	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.72510	0.3469	L	0.56396	1.775	0.30444	N	0.775939	P;P	0.52577	0.954;0.77	P;P	0.54706	0.759;0.561	T	0.73427	-0.3986	9	0.72032	D	0.01	.	17.633	0.88114	0.0:0.0:1.0:0.0	.	286;286	A6NFN9;E9PHT4	ANKUB_HUMAN;.	N	286	ENSP00000387907:H286N;ENSP00000372522:H286N;ENSP00000417635:H286N	ENSP00000372522:H286N	H	-	1	0	ANKUB1	150968283	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	6.934000	0.75880	2.449000	0.82847	0.655000	0.94253	CAT	ANKUB1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt		0.373	ANKUB1-201	KNOWN	basic	protein_coding	ANKUB1	HGNC	protein_coding		G	NM_001144960		149485593	-1	no_errors	ENST00000446160	ensembl	human	known	70_37	missense	SNP	0.999	T
ARHGAP35	2909	genome.wustl.edu	37	19	47423758	47423758	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr19:47423758C>T	ENST00000404338.3	+	1	1826	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	609					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GACGGCCTTGCCCGAGAGTTG	0.448																																																	0													147.0	143.0	144.0					19																	47423758		1877	4106	5983	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1826C>T	19.37:g.47423758C>T	ENSP00000385720:p.Ala609Val		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A609V	ENST00000404338.3	37	c.1826	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062394	0.76187	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.12879	2.64	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.18085	-1.0348	10	0.87932	D	0	-28.6612	19.1646	0.93551	0.0:1.0:0.0:0.0	.	609	Q9NRY4-2	.	V	609	ENSP00000385720:A609V	ENSP00000324820:A609V	A	+	2	0	ARHGAP35	52115598	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.074000	0.71253	2.824000	0.97209	0.655000	0.94253	GCC	ARHGAP35	-	NULL		0.448	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	C	NM_004491		47423758	+1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	1.000	T
BRD7	29117	genome.wustl.edu	37	16	50360205	50360205	+	Missense_Mutation	SNP	T	T	G			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr16:50360205T>G	ENST00000394688.3	-	10	1344	c.1185A>C	c.(1183-1185)aaA>aaC	p.K395N	BRD7_ENST00000394689.2_Missense_Mutation_p.K395N			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	395					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CTGGAGTGACTTTGTTCCTTT	0.453																																																	0													71.0	69.0	70.0					16																	50360205		2198	4300	6498	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1185A>C	16.37:g.50360205T>G	ENSP00000378180:p.Lys395Asn		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K395N	ENST00000394688.3	37	c.1185	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645368	0.47258	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.51071	0.72;0.72	5.2	4.08	0.47627	.	0.245346	0.47093	D	0.000249	T	0.48484	0.1502	M	0.71581	2.175	0.36622	D	0.8758	B;B	0.32653	0.379;0.328	B;B	0.39094	0.29;0.191	T	0.53788	-0.8389	10	0.40728	T	0.16	0.6422	7.8322	0.29349	0.0:0.2434:0.0:0.7566	.	395;395	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	N	395	ENSP00000378180:K395N;ENSP00000378181:K395N	ENSP00000378180:K395N	K	-	3	2	BRD7	48917706	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	0.989000	0.29629	0.899000	0.36444	0.533000	0.62120	AAA	BRD7	-	pfam_DUF3512		0.453	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3	T	NM_013263		50360205	-1	no_errors	ENST00000394689	ensembl	human	known	70_37	missense	SNP	0.999	G
C12orf54	121273	genome.wustl.edu	37	12	48881835	48881835	+	Intron	SNP	G	G	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr12:48881835G>T	ENST00000548364.1	+	4	192				RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000314014.2_Intron|C12orf54_ENST00000548913.1_3'UTR			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54											endometrium(1)|large_intestine(4)	5						GGAGCTGGCAGACAAGAATGT	0.483																																																	0																																										SO:0001627	intron_variant	121273			BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.136-872G>T	12.37:g.48881835G>T			Q6X4S9|Q8N5S2	RNA	SNP	-	NULL	ENST00000548364.1	37	NULL	CCDS8764.1	12																																																																																			C12orf54	-	-		0.483	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	C12orf54	HGNC	protein_coding	OTTHUMT00000406875.1	G	NM_152319		48881835	+1	no_errors	ENST00000548913	ensembl	human	known	70_37	rna	SNP	1.000	T
C16orf86	388284	genome.wustl.edu	37	16	67700945	67700945	+	Silent	SNP	G	G	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr16:67700945G>A	ENST00000403458.4	+	1	227	c.72G>A	c.(70-72)acG>acA	p.T24T	ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|C16orf86_ENST00000602974.1_3'UTR	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	24										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GACAGCTCACGGAGGAGCCCG	0.697																																																	0													4.0	7.0	6.0					16																	67700945		1873	3977	5850	SO:0001819	synonymous_variant	388284				CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.72G>A	16.37:g.67700945G>A			B5MCW6	Silent	SNP	NULL	p.T24	ENST00000403458.4	37	c.72	CCDS32468.2	16																																																																																			C16orf86	-	NULL		0.697	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf86	HGNC	protein_coding	OTTHUMT00000318767.2	G	NM_001012984		67700945	+1	no_errors	ENST00000403458	ensembl	human	known	70_37	silent	SNP	0.000	A
CLINT1	9685	genome.wustl.edu	37	5	157232884	157232884	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr5:157232884G>C	ENST00000411809.2	-	7	1136	c.932C>G	c.(931-933)tCt>tGt	p.S311C	CLINT1_ENST00000523908.1_Missense_Mutation_p.S311C|CLINT1_ENST00000523094.1_Missense_Mutation_p.S293C|CLINT1_ENST00000530742.1_Missense_Mutation_p.S293C|CLINT1_ENST00000296951.5_Missense_Mutation_p.S293C	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	311					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTAACTGAAGACTGAGGTGT	0.423																																					Colon(22;427 587 2170 6147 14291)												0													187.0	180.0	182.0					5																	157232884		2025	4178	6203	SO:0001583	missense	9685			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.932C>G	5.37:g.157232884G>C	ENSP00000388340:p.Ser311Cys		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.S293C	ENST00000411809.2	37	c.878	CCDS47330.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158785	0.78226	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.49432	0.78;0.78;0.81;0.78;0.78	5.76	4.89	0.63831	.	0.766887	0.13519	N	0.381877	T	0.50718	0.1632	L	0.52573	1.65	0.45662	D	0.998586	P;D	0.57257	0.943;0.979	P;P	0.46975	0.479;0.533	T	0.51996	-0.8634	10	0.56958	D	0.05	-24.9759	14.8976	0.70654	0.0689:0.0:0.9311:0.0	.	311;311	B7Z6F8;Q14677	.;EPN4_HUMAN	C	293;293;311;293;311	ENSP00000429345:S293C;ENSP00000433419:S293C;ENSP00000388340:S311C;ENSP00000296951:S293C;ENSP00000429824:S311C	ENSP00000296951:S293C	S	-	2	0	CLINT1	157165462	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.625000	0.54238	1.439000	0.47511	0.650000	0.86243	TCT	CLINT1	-	NULL		0.423	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	HGNC	protein_coding	OTTHUMT00000374001.1	G	NM_014666		157232884	-1	no_errors	ENST00000296951	ensembl	human	known	70_37	missense	SNP	1.000	C
CREBBP	1387	genome.wustl.edu	37	16	3799625	3799626	+	Intron	INS	-	-	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr16:3799625_3799626insA	ENST00000262367.5	-	21	4646				CREBBP_ENST00000382070.3_Intron	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein						cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTATATACTTACGGTTCGGGG	0.297			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0																																										SO:0001627	intron_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3836+1->T	16.37:g.3799626_3799626dupA			D3DUC9|O00147|Q16376|Q4LE28	Splice_Site	INS	-	e21+2	ENST00000262367.5	37	c.3836+2_3836+1	CCDS10509.1	16																																																																																			CREBBP	-	-		0.297	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	-	NM_004380		3799626	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	splice_site_ins	INS	1.000:1.000	A
CT47B1	643311	genome.wustl.edu	37	X	120009305	120009305	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chrX:120009305C>T	ENST00000371311.3	-	1	474	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	74										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TGGGGGACTGCGGCCAGGCCT	0.711																																																	0													10.0	14.0	13.0					X																	120009305		689	1568	2257	SO:0001583	missense	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.220G>A	X.37:g.120009305C>T	ENSP00000360360:p.Ala74Thr		A6NM97	Missense_Mutation	SNP	NULL	p.A74T	ENST00000371311.3	37	c.220	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	C	6.060	0.379317	0.11466	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.21	-4.42	0.03579	.	.	.	.	.	T	0.15349	0.0370	N	0.14661	0.345	0.09310	N	1	B	0.30542	0.284	B	0.26969	0.075	T	0.16808	-1.0390	8	0.29301	T	0.29	.	4.32	0.11013	0.0:0.4712:0.218:0.3109	.	74	P0C2W7	CT47B_HUMAN	T	74	.	ENSP00000360360:A74T	A	-	1	0	CT47B1	119893333	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.632000	0.02024	-1.128000	0.02922	-1.177000	0.01723	GCA	CT47B1	-	NULL		0.711	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	C	NM_001145718		120009305	-1	no_errors	ENST00000371311	ensembl	human	known	70_37	missense	SNP	0.000	T
DCTN1	1639	genome.wustl.edu	37	2	74594182	74594182	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr2:74594182G>A	ENST00000361874.3	-	20	2623	c.2306C>T	c.(2305-2307)gCc>gTc	p.A769V	DCTN1_ENST00000409438.1_Missense_Mutation_p.A635V|DCTN1_ENST00000407639.2_Missense_Mutation_p.A635V|DCTN1_ENST00000409240.1_Missense_Mutation_p.A732V|DCTN1_ENST00000409567.3_Missense_Mutation_p.A749V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A752V|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Missense_Mutation_p.A762V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	769					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTGCAAGAAGGCACGCAGCCG	0.517																																																	0													89.0	73.0	78.0					2																	74594182		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2306C>T	2.37:g.74594182G>A	ENSP00000354791:p.Ala769Val		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.A769V	ENST00000361874.3	37	c.2306	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408362	0.62399	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.44	5.44	0.79542	.	0.000000	0.43110	D	0.000620	T	0.79399	0.4439	L	0.35723	1.085	0.80722	D	1	B;B;P;B;B;P	0.41784	0.042;0.238;0.762;0.025;0.08;0.72	B;B;B;B;B;B	0.42245	0.047;0.186;0.381;0.026;0.041;0.263	T	0.77498	-0.2565	10	0.32370	T	0.25	-6.5715	18.2031	0.89846	0.0:0.0:1.0:0.0	.	749;732;769;762;635;635	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	V	769;762;752;635;635;732;752;749	ENSP00000354791:A769V;ENSP00000377571:A762V;ENSP00000384844:A635V;ENSP00000387270:A635V;ENSP00000386406:A732V;ENSP00000387327:A752V;ENSP00000386843:A749V	ENSP00000354791:A769V	A	-	2	0	DCTN1	74447690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.801000	0.75170	2.837000	0.97791	0.655000	0.94253	GCC	DCTN1	-	pfam_Dynactin		0.517	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	G	NM_004082		74594182	-1	no_errors	ENST00000361874	ensembl	human	known	70_37	missense	SNP	1.000	A
DLC1	10395	genome.wustl.edu	37	8	12948839	12948839	+	Silent	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr8:12948839C>T	ENST00000276297.4	-	14	4252	c.3843G>A	c.(3841-3843)aaG>aaA	p.K1281K	DLC1_ENST00000358919.2_Silent_p.K844K|DLC1_ENST00000512044.2_Silent_p.K878K|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.K770K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1281	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGAAAAGCTTCTTGCACTCGG	0.408																																																	0													113.0	113.0	113.0					8																	12948839		2203	4300	6503	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3843G>A	8.37:g.12948839C>T			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.K1281	ENST00000276297.4	37	c.3843	CCDS5989.1	8																																																																																			DLC1	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.408	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	C	NM_182643, NM_006094		12948839	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	silent	SNP	1.000	T
DYNC1I2	1781	genome.wustl.edu	37	2	172585298	172585298	+	Silent	SNP	T	T	C	rs62184168		TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr2:172585298T>C	ENST00000397119.3	+	14	1496	c.1329T>C	c.(1327-1329)gaT>gaC	p.D443D	DYNC1I2_ENST00000340296.4_Silent_p.D417D|DYNC1I2_ENST00000410079.3_Silent_p.D435D|DYNC1I2_ENST00000409317.1_Silent_p.D437D|DYNC1I2_ENST00000263811.4_Silent_p.D437D|DYNC1I2_ENST00000508530.1_Silent_p.D417D|DYNC1I2_ENST00000534253.2_Silent_p.D443D|DYNC1I2_ENST00000358002.6_Silent_p.D435D|DYNC1I2_ENST00000409773.1_Silent_p.D443D|DYNC1I2_ENST00000409453.1_Silent_p.D443D|DYNC1I2_ENST00000409197.1_Silent_p.D417D	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	443					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CTGTTGGAGATGTCAACAACT	0.398																																																	0													67.0	65.0	65.0					2																	172585298		1866	4092	5958	SO:0001819	synonymous_variant	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1329T>C	2.37:g.172585298T>C			B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Silent	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.D443	ENST00000397119.3	37	c.1329	CCDS46450.1	2																																																																																			DYNC1I2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.398	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	T	NM_001378		172585298	+1	no_errors	ENST00000397119	ensembl	human	known	70_37	silent	SNP	0.997	C
DYNC1I2	1781	genome.wustl.edu	37	2	172600662	172600662	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr2:172600662G>T	ENST00000397119.3	+	16	1807	c.1640G>T	c.(1639-1641)gGg>gTg	p.G547V	DYNC1I2_ENST00000340296.4_Missense_Mutation_p.G521V|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.G539V|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.G541V|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.G541V|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.G521V|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.G547V|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.G539V|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.G547V|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.G547V|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.G521V	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	547					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GATGGCATGGGGAGATTGGAT	0.363																																																	0													72.0	66.0	68.0					2																	172600662		1833	4084	5917	SO:0001583	missense	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1640G>T	2.37:g.172600662G>T	ENSP00000380308:p.Gly547Val		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G547V	ENST00000397119.3	37	c.1640	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478971	0.84747	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	H	0.95917	3.74	0.80722	D	1	D;D;D;D;D	0.89917	0.989;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.883;1.0;0.999;0.999;1.0	D	0.95464	0.8545	10	0.87932	D	0	-8.8617	18.1643	0.89719	0.0:0.0:1.0:0.0	.	270;539;521;521;547	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	V	521;547;541;547;539;521;521;541;547;547;539	ENSP00000339430:G521V;ENSP00000433791:G547V;ENSP00000263811:G541V;ENSP00000380308:G547V;ENSP00000386522:G539V;ENSP00000423339:G521V;ENSP00000386397:G521V;ENSP00000386591:G541V;ENSP00000386415:G547V;ENSP00000386886:G547V;ENSP00000350692:G539V	ENSP00000263811:G541V	G	+	2	0	DYNC1I2	172308908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.290000	0.77057	0.650000	0.86243	GGG	DYNC1I2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.363	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	G	NM_001378		172600662	+1	no_errors	ENST00000397119	ensembl	human	known	70_37	missense	SNP	1.000	T
EML5	161436	genome.wustl.edu	37	14	89130940	89130940	+	Silent	SNP	G	G	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr14:89130940G>T	ENST00000380664.5	-	23	3305	c.3306C>A	c.(3304-3306)tcC>tcA	p.S1102S	EML5_ENST00000554922.1_Silent_p.S1102S|EML5_ENST00000352093.5_Silent_p.S1064S			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1102						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGCTGTCATGGGATGCTACAG	0.328																																																	0													90.0	87.0	88.0					14																	89130940		1807	4073	5880	SO:0001819	synonymous_variant	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3306C>A	14.37:g.89130940G>T			B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1102	ENST00000380664.5	37	c.3306	CCDS45148.1	14																																																																																			EML5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.328	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	G			89130940	-1	no_errors	ENST00000554922	ensembl	human	known	70_37	silent	SNP	0.994	T
LOC101927721	101927721	genome.wustl.edu	37	7	100944258	100944258	+	RNA	SNP	G	G	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr7:100944258G>A	ENST00000429254.1	+	0	463																											agaattgaccggactgattgt	0.403																																																	0																																												0																															7.37:g.100944258G>A				RNA	SNP	-	NULL	ENST00000429254.1	37	NULL		7																																																																																			RP11-132A1.3	-	-		0.403	RP11-132A1.3-001	KNOWN	basic|exp_conf	antisense	ENSG00000232301	Clone_based_vega_gene	antisense	OTTHUMT00000347487.1	G			100944258	+1	no_errors	ENST00000429254	ensembl	human	known	70_37	rna	SNP	0.140	A
CARD14	79092	genome.wustl.edu	37	17	78175491	78175491	+	Intron	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:78175491C>T	ENST00000573882.1	+	16	2387				RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000344227.2_Intron|CARD14_ENST00000392434.2_Intron|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000570421.1_Intron|RP11-334C17.5_ENST00000573935.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14						activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGTCTTCTGGCTGGATTCAGA	0.602																																																	0													84.0	84.0	84.0					17																	78175491		876	1991	2867	SO:0001627	intron_variant	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1852-52C>T	17.37:g.78175491C>T			B8QQJ3|Q9BVB5	RNA	SNP	-	NULL	ENST00000573882.1	37	NULL	CCDS11768.1	17																																																																																			RP11-334C17.5	-	-		0.602	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262580	Clone_based_vega_gene	protein_coding	OTTHUMT00000437507.1	C			78175491	-1	no_errors	ENST00000570309	ensembl	human	known	70_37	rna	SNP	0.004	T
EVX2	344191	genome.wustl.edu	37	2	176948108	176948108	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr2:176948108C>T	ENST00000308618.4	-	1	533	c.397G>A	c.(397-399)Gcc>Acc	p.A133T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	133					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGCTGAGCGGCGCCGAGGCCC	0.682																																																	0													13.0	16.0	15.0					2																	176948108		2192	4287	6479	SO:0001583	missense	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.397G>A	2.37:g.176948108C>T	ENSP00000312385:p.Ala133Thr			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa	p.A133T	ENST00000308618.4	37	c.397	CCDS33333.1	2	.	.	.	.	.	.	.	.	.	.	C	2.508	-0.313608	0.05422	.	.	ENSG00000174279	ENST00000308618	D	0.91894	-2.93	5.43	3.63	0.41609	.	0.395100	0.24945	N	0.034341	D	0.85013	0.5600	L	0.38175	1.15	0.09310	N	1	B	0.25955	0.138	B	0.13407	0.009	T	0.66296	-0.5959	10	0.11485	T	0.65	-9.5731	11.0955	0.48141	0.1161:0.7759:0.0:0.1079	.	133	Q03828	EVX2_HUMAN	T	133	ENSP00000312385:A133T	ENSP00000312385:A133T	A	-	1	0	EVX2	176656354	0.959000	0.32827	0.011000	0.14972	0.002000	0.02628	1.280000	0.33202	0.290000	0.22444	-1.731000	0.00696	GCC	EVX2	-	NULL		0.682	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	HGNC	protein_coding	OTTHUMT00000359252.1	C			176948108	-1	no_errors	ENST00000308618	ensembl	human	known	70_37	missense	SNP	0.025	T
GLIPR1	11010	genome.wustl.edu	37	12	75874739	75874739	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr12:75874739G>A	ENST00000266659.3	+	1	280	c.79G>A	c.(79-81)Gat>Aat	p.D27N		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	27					cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TATTTTGCCAGATATCGAAAA	0.413																																																	0													92.0	87.0	89.0					12																	75874739		2203	4300	6503	SO:0001583	missense	11010			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.79G>A	12.37:g.75874739G>A	ENSP00000266659:p.Asp27Asn		A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.D27N	ENST00000266659.3	37	c.79	CCDS9011.1	12	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459683	0.63401	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.10860	3.19;2.83	6.03	2.78	0.32641	CAP domain (1);	0.468665	0.25397	N	0.030974	T	0.11281	0.0275	L	0.59436	1.845	0.32534	N	0.534504	B;B	0.32939	0.391;0.379	B;B	0.32624	0.101;0.149	T	0.11690	-1.0577	10	0.19590	T	0.45	.	11.3366	0.49507	0.2238:0.0:0.7762:0.0	.	27;27	F6VVE8;P48060	.;GLIP1_HUMAN	N	27	ENSP00000266659:D27N;ENSP00000391144:D27N	ENSP00000266659:D27N	D	+	1	0	GLIPR1	74161006	1.000000	0.71417	0.917000	0.36280	0.639000	0.38242	4.646000	0.61411	0.861000	0.35504	0.655000	0.94253	GAT	GLIPR1	-	superfamily_CAP_domain		0.413	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1	HGNC	protein_coding	OTTHUMT00000405722.1	G	NM_006851		75874739	+1	no_errors	ENST00000266659	ensembl	human	known	70_37	missense	SNP	0.822	A
GRIA3	2892	genome.wustl.edu	37	X	122336540	122336540	+	Intron	SNP	T	T	C			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chrX:122336540T>C	ENST00000371251.1	+	2	320				GRIA3_ENST00000264357.5_Intron|GRIA3_ENST00000371266.1_Silent_p.N107N|GRIA3_ENST00000479118.1_Intron|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000541091.1_Intron|GRIA3_ENST00000371264.3_Silent_p.N107N|GRIA3_ENST00000542149.1_Intron			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						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)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGGAAAACAATTGGACAGCTC	0.557																																																	0																																										SO:0001627	intron_variant	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.268+16698T>C	X.37:g.122336540T>C			D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	NULL	p.N107	ENST00000371251.1	37	c.321	CCDS14604.1	X																																																																																			GRIA3	-	NULL		0.557	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	T	NM_000828		122336540	+1	no_errors	ENST00000371264	ensembl	human	known	70_37	silent	SNP	0.000	C
HERC1	8925	genome.wustl.edu	37	15	63972276	63972276	+	Splice_Site	SNP	C	C	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr15:63972276C>A	ENST00000443617.2	-	36	6636	c.6549G>T	c.(6547-6549)aaG>aaT	p.K2183N	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2183	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACTTCATTACCTTTTCCCCTG	0.343																																																	0													93.0	87.0	88.0					15																	63972276		1842	4077	5919	SO:0001630	splice_region_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6549+1G>T	15.37:g.63972276C>A			Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.K2183N	ENST00000443617.2	37	c.6549	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042681	0.93685	.	.	ENSG00000103657	ENST00000443617	T	0.70516	-0.49	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79804	-0.1649	9	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	2183	Q15751	HERC1_HUMAN	N	2183	ENSP00000390158:K2183N	.	K	-	3	2	HERC1	61759329	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.049000	0.71053	2.873000	0.98535	0.563000	0.77884	AAG	HERC1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.343	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922	Missense_Mutation	63972276	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	A
HHIPL2	79802	genome.wustl.edu	37	1	222717481	222717481	+	Silent	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr1:222717481C>T	ENST00000343410.6	-	2	430	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	124					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCGGAGAGGCGTCTGGGTGT	0.597																																																	0													87.0	100.0	96.0					1																	222717481		1956	4138	6094	SO:0001819	synonymous_variant	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.372G>A	1.37:g.222717481C>T			Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.T124	ENST00000343410.6	37	c.372	CCDS1530.2	1																																																																																			HHIPL2	-	pfam_Folate_rcpt-like,superfamily_Saposin-like		0.597	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	C	NM_024746		222717481	-1	no_errors	ENST00000343410	ensembl	human	known	70_37	silent	SNP	0.435	T
ITGAE	3682	genome.wustl.edu	37	17	3656605	3656605	+	Silent	SNP	G	G	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:3656605G>A	ENST00000263087.4	-	14	1745	c.1647C>T	c.(1645-1647)taC>taT	p.Y549Y		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	549					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GACGGTACACGTAGACTCTGC	0.557																																					NSCLC(182;635 2928 8995 38788)												0													158.0	125.0	136.0					17																	3656605		2203	4300	6503	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1647C>T	17.37:g.3656605G>A			Q17RS6|Q9NZU9	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.Y549	ENST00000263087.4	37	c.1647	CCDS32531.1	17																																																																																			ITGAE	-	smart_Int_alpha_beta-p		0.557	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	G	NM_002208		3656605	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	silent	SNP	0.109	A
LINC00588	26138	genome.wustl.edu	37	8	58192647	58192647	+	lincRNA	SNP	G	G	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr8:58192647G>T	ENST00000521663.1	+	0	546					NR_026772.1		Q9Y4M8	CH071_HUMAN	long intergenic non-protein coding RNA 588																		CCATGTAGGCGGCTGCACAGT	0.687																																																	0																																												26138					8q12.1	2012-10-12	2012-04-17	2012-04-17	ENSG00000215117	ENSG00000215117		"""Long non-coding RNAs"""	24494	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 71"""	C8orf71		11230166	Standard	NR_026772		Approved	DKFZP434F122	uc003xtg.3	Q9Y4M8	OTTHUMG00000164424		8.37:g.58192647G>T				RNA	SNP	-	NULL	ENST00000521663.1	37	NULL		8																																																																																			LINC00588	-	-		0.687	LINC00588-001	KNOWN	basic	lincRNA	LINC00588	HGNC	lincRNA	OTTHUMT00000378704.1	G	NR_026772		58192647	+1	no_errors	ENST00000521663	ensembl	human	known	70_37	rna	SNP	0.003	T
LRRC69	100130742	genome.wustl.edu	37	8	92139388	92139388	+	Splice_Site	SNP	G	G	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr8:92139388G>T	ENST00000448384.2	+	3	383	c.383G>T	c.(382-384)aGa>aTa	p.R128I	LRRC69_ENST00000343709.3_Intron	NM_001129890.1	NP_001123362.1	Q6ZNQ3	LRC69_HUMAN	leucine rich repeat containing 69	128										endometrium(1)	1						GAAGTCAGCAGGTAATTTTGT	0.388																																																	0													97.0	85.0	89.0					8																	92139388		692	1591	2283	SO:0001630	splice_region_variant	100130742			AK130865		8q21.3	2010-07-14			ENSG00000214954	ENSG00000214954			34303	protein-coding gene	gene with protein product							Standard	NM_001129890		Approved		uc010mal.1	Q6ZNQ3	OTTHUMG00000164023	ENST00000448384.2:c.383+1G>T	8.37:g.92139388G>T				Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R128I	ENST00000448384.2	37	c.383		8	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156029	0.78114	.	.	ENSG00000214954	ENST00000448384	T	0.25085	1.82	5.78	4.91	0.64330	.	.	.	.	.	T	0.42314	0.1197	L	0.53671	1.685	0.48236	D	0.999614	D	0.76494	0.999	D	0.70716	0.97	T	0.23726	-1.0180	9	0.48119	T	0.1	-6.0846	9.9972	0.41907	0.156:0.0:0.844:0.0	.	128	Q6ZNQ3	LRC69_HUMAN	I	128	ENSP00000400803:R128I	ENSP00000400803:R128I	R	+	2	0	LRRC69	92208564	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.414000	0.44627	1.450000	0.47717	0.585000	0.79938	AGA	LRRC69	-	smart_Leu-rich_rpt_typical-subtyp		0.388	LRRC69-007	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	LRRC69	HGNC	protein_coding	OTTHUMT00000415207.1	G	NM_001129890	Missense_Mutation	92139388	+1	no_errors	ENST00000448384	ensembl	human	novel	70_37	missense	SNP	1.000	T
MAGEB2	4113	genome.wustl.edu	37	X	30236904	30236904	+	Silent	SNP	C	C	T	rs370067105		TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chrX:30236904C>T	ENST00000378988.4	+	2	308	c.207C>T	c.(205-207)gcC>gcT	p.A69A		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	69										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CAACCACTGCCGCTGCTGCGG	0.562																																																	0								C		0,3811		0,0,1630,551	11.0	10.0	11.0		207	-0.1	0.0	X		11	3,6689		0,3,2423,1840	no	coding-synonymous	MAGEB2	NM_002364.4		0,3,4053,2391	TT,TC,CC,C		0.0448,0.0,0.0286		69/320	30236904	3,10500	2181	4266	6447	SO:0001819	synonymous_variant	4113			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.207C>T	X.37:g.30236904C>T			O75860	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A69	ENST00000378988.4	37	c.207	CCDS14219.1	X																																																																																			MAGEB2	-	pfam_Melanoma_ass_antigen_N		0.562	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB2	HGNC	protein_coding	OTTHUMT00000056157.1	C	NM_002364		30236904	+1	no_errors	ENST00000378988	ensembl	human	known	70_37	silent	SNP	0.000	T
MAGI3	260425	genome.wustl.edu	37	1	114224863	114224863	+	Missense_Mutation	SNP	G	G	A	rs141671759		TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr1:114224863G>A	ENST00000369615.1	+	21	3420	c.3358G>A	c.(3358-3360)Gtg>Atg	p.V1120M	MAGI3_ENST00000369611.4_Missense_Mutation_p.V1120M|MAGI3_ENST00000307546.9_Intron|MAGI3_ENST00000369617.4_Missense_Mutation_p.V1145M	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	0	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGCTCCTACGTGAAACCCGA	0.388																																																	0								G	,MET/VAL	0,4406		0,0,2203	129.0	136.0	134.0		,3358	5.7	1.0	1	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	MAGI3	NM_001142782.1,NM_152900.2	,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,1120/1126	114224863	1,13005	2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000369615.1:c.3358G>A	1.37:g.114224863G>A	ENSP00000358628:p.Val1120Met		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.V1120M	ENST00000369615.1	37	c.3358	CCDS860.1	1	.	.	.	.	.	.	.	.	.	.	G	7.423	0.637132	0.14386	0.0	1.16E-4	ENSG00000081026	ENST00000369617;ENST00000369615;ENST00000369611	T;T;T	0.13901	2.56;2.55;2.55	5.69	5.69	0.88448	.	.	.	.	.	T	0.04452	0.0122	.	.	.	0.40149	D	0.976929	P;P	0.43607	0.626;0.812	B;B	0.28385	0.062;0.089	T	0.43410	-0.9393	8	0.21540	T	0.41	.	19.812	0.96551	0.0:0.0:1.0:0.0	.	1120;1145	Q5TCQ9-3;Q5TCQ9-2	.;.	M	1145;1120;1120	ENSP00000358630:V1145M;ENSP00000358628:V1120M;ENSP00000358624:V1120M	ENSP00000358624:V1120M	V	+	1	0	MAGI3	114026386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.624000	0.67764	2.683000	0.91414	0.557000	0.71058	GTG	MAGI3	-	NULL		0.388	MAGI3-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032428.1	G	NM_152900		114224863	+1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	1.000	A
MCM5	4174	genome.wustl.edu	37	22	35820213	35820213	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr22:35820213C>T	ENST00000216122.4	+	17	2324	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C	MCM5_ENST00000382011.5_Missense_Mutation_p.R681C	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	724					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GATCCAGCATCGCATGCAGCG	0.652																																																	0													40.0	31.0	34.0					22																	35820213		2149	4169	6318	SO:0001583	missense	4174				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.2170C>T	22.37:g.35820213C>T	ENSP00000216122:p.Arg724Cys		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase	p.R724C	ENST00000216122.4	37	c.2170	CCDS13915.1	22	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581407	0.65992	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.04317	3.99;3.65	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.65874	0.939;0.939;0.939	T	0.09840	-1.0656	10	0.87932	D	0	-19.2195	17.438	0.87558	0.0:1.0:0.0:0.0	.	724;681;724	B1AHB0;B1AHB1;P33992	.;.;MCM5_HUMAN	C	724;681	ENSP00000216122:R724C;ENSP00000371441:R681C	ENSP00000216122:R724C	R	+	1	0	MCM5	34150213	1.000000	0.71417	0.955000	0.39395	0.385000	0.30292	3.894000	0.56250	2.337000	0.79520	0.462000	0.41574	CGC	MCM5	-	NULL		0.652	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	HGNC	protein_coding	OTTHUMT00000320661.3	C			35820213	+1	no_errors	ENST00000216122	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH6	4624	genome.wustl.edu	37	14	23866005	23866005	+	Silent	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr14:23866005C>T	ENST00000356287.3	-	18	2219	c.2190G>A	c.(2188-2190)gtG>gtA	p.V730V	MYH6_ENST00000405093.3_Silent_p.V730V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	730	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAGGGATGGCCACTGGGTTCA	0.542																																																	0													107.0	85.0	92.0					14																	23866005		2203	4300	6503	SO:0001819	synonymous_variant	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2190G>A	14.37:g.23866005C>T			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V730	ENST00000356287.3	37	c.2190	CCDS9600.1	14																																																																																			MYH6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	C			23866005	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	silent	SNP	0.369	T
NLRP5	126206	genome.wustl.edu	37	19	56538760	56538760	+	Silent	SNP	G	G	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr19:56538760G>A	ENST00000390649.3	+	7	1161	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	387	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGCAGCCTCCGTTCACCCTCA	0.542																																																	0													46.0	47.0	47.0					19																	56538760		2094	4218	6312	SO:0001819	synonymous_variant	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1161G>A	19.37:g.56538760G>A			A8MTY4|Q86W29	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P387	ENST00000390649.3	37	c.1161	CCDS12938.1	19																																																																																			NLRP5	-	pfscan_NACHT_NTPase		0.542	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	G	NM_153447		56538760	+1	no_errors	ENST00000390649	ensembl	human	known	70_37	silent	SNP	0.000	A
PARP12	64761	genome.wustl.edu	37	7	139734130	139734130	+	Splice_Site	SNP	G	G	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr7:139734130G>T	ENST00000263549.3	-	8	2199	c.1326C>A	c.(1324-1326)gcC>gcA	p.A442A	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	442	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TCTGAACGAAGGCTGAAAAAA	0.383																																																	0													51.0	48.0	49.0					7																	139734130		2203	4300	6503	SO:0001630	splice_region_variant	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1325-1C>A	7.37:g.139734130G>T			Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom	p.P395H	ENST00000263549.3	37	c.1184	CCDS5857.1	7																																																																																			PARP12	-	NULL		0.383	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP12	HGNC	protein_coding	OTTHUMT00000348413.1	G	NM_022750	Silent	139734130	-1	no_errors	ENST00000473341	ensembl	human	known	70_37	missense	SNP	0.278	T
PIK3CA	5290	genome.wustl.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	26	Substitution - Missense(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)											93.0	87.0	89.0					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A			Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.G118D	ENST00000263967.3	37	c.353	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT	PIK3CA	-	NULL		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G		Missense_Mutation	178917478	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PRDM10	56980	genome.wustl.edu	37	11	129788548	129788548	+	Silent	SNP	G	G	A	rs144671187	byFrequency	TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr11:129788548G>A	ENST00000360871.3	-	14	2331	c.2100C>T	c.(2098-2100)gcC>gcT	p.A700A	PRDM10_ENST00000526082.1_Silent_p.A618A|PRDM10_ENST00000423662.2_Silent_p.A618A|PRDM10_ENST00000358825.5_Silent_p.A704A|PRDM10_ENST00000304538.6_Silent_p.A614A|PRDM10_ENST00000528746.1_Silent_p.A674A	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	704					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGATGCGGTCGGCTTTCTTGG	0.532																																																	0								G	,,,	1,4401	2.1+/-5.4	0,1,2200	254.0	234.0	241.0		2112,2100,1854,1842	-10.1	0.5	11	dbSNP_134	241	5,8589	4.3+/-15.6	0,5,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	0,6,6492	AA,AG,GG		0.0582,0.0227,0.0462	,,,	704/1161,700/1157,618/1062,614/1024	129788548	6,12990	2201	4297	6498	SO:0001819	synonymous_variant	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2100C>T	11.37:g.129788548G>A			B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A704	ENST00000360871.3	37	c.2112	CCDS8484.1	11																																																																																			PRDM10	-	NULL		0.532	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	G	NM_199437		129788548	-1	no_errors	ENST00000358825	ensembl	human	known	70_37	silent	SNP	0.019	A
SASH3	54440	genome.wustl.edu	37	X	128926434	128926434	+	Silent	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chrX:128926434C>T	ENST00000356892.3	+	5	687	c.573C>T	c.(571-573)caC>caT	p.H191H	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	191	SH3.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CCTATGACCACGACTCGCTGA	0.607																																																	0													113.0	107.0	109.0					X																	128926434		2203	4300	6503	SO:0001819	synonymous_variant	54440			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.573C>T	X.37:g.128926434C>T			A6NCH1|A8K7K8|Q5JZ38	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.H191	ENST00000356892.3	37	c.573	CCDS14614.1	X																																																																																			SASH3	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain		0.607	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH3	HGNC	protein_coding	OTTHUMT00000058208.1	C	NM_018990		128926434	+1	no_errors	ENST00000356892	ensembl	human	known	70_37	silent	SNP	0.062	T
SCN11A	11280	genome.wustl.edu	37	3	38924826	38924826	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr3:38924826C>A	ENST00000302328.3	-	18	3315	c.3117G>T	c.(3115-3117)tgG>tgT	p.W1039C	SCN11A_ENST00000456224.3_Missense_Mutation_p.W1001C|SCN11A_ENST00000444237.2_Missense_Mutation_p.W1039C|SCN11A_ENST00000450244.1_Missense_Mutation_p.W1039C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1039					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCAAATGACCCAGGGAGGCT	0.453																																																	0													107.0	100.0	102.0					3																	38924826		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3117G>T	3.37:g.38924826C>A	ENSP00000307599:p.Trp1039Cys		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.W1039C	ENST00000302328.3	37	c.3117	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776617	0.31411	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.57	2.62	0.31277	Sodium ion transport-associated (1);	0.117107	0.64402	N	0.000018	T	0.79185	0.4403	L	0.58810	1.83	0.47341	D	0.999393	B	0.18461	0.028	B	0.19666	0.026	T	0.76727	-0.2853	10	0.72032	D	0.01	.	4.7054	0.12848	0.1365:0.3709:0.4091:0.0835	.	1039	Q9UI33	SCNBA_HUMAN	C	1039;1039;1001;1039	ENSP00000307599:W1039C;ENSP00000400945:W1039C;ENSP00000416757:W1001C;ENSP00000408028:W1039C	ENSP00000307599:W1039C	W	-	3	0	SCN11A	38899830	0.009000	0.17119	0.921000	0.36526	0.552000	0.35366	0.134000	0.15932	1.469000	0.48083	-0.211000	0.12701	TGG	SCN11A	-	pfam_Na_trans_assoc		0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	C	NM_014139		38924826	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	0.023	A
SCN4A	6329	genome.wustl.edu	37	17	62041962	62041962	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:62041962T>C	ENST00000435607.1	-	9	1394	c.1318A>G	c.(1318-1320)Aat>Gat	p.N440D	SCN4A_ENST00000578147.1_Missense_Mutation_p.N440D	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	440					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGATCAGATTGATGAGGTAG	0.552																																																	0													75.0	74.0	75.0					17																	62041962		1997	4190	6187	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1318A>G	17.37:g.62041962T>C	ENSP00000396320:p.Asn440Asp		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.N440D	ENST00000435607.1	37	c.1318	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	t	26.8	4.769633	0.90020	.	.	ENSG00000007314	ENST00000435607	D	0.99287	-5.69	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.98426	4.23	0.53688	D	0.999973	D	0.89917	1.0	D	0.91635	0.999	D	0.97397	0.9993	10	0.87932	D	0	.	13.859	0.63548	0.0:0.0:0.0:1.0	.	440	P35499	SCN4A_HUMAN	D	440	ENSP00000396320:N440D	ENSP00000396320:N440D	N	-	1	0	SCN4A	59395694	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.862000	0.87013	2.049000	0.60858	0.375000	0.23000	AAT	SCN4A	-	pfam_Ion_trans_dom		0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		T	NM_000334		62041962	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	missense	SNP	1.000	C
SI	6476	genome.wustl.edu	37	3	164735793	164735793	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr3:164735793G>T	ENST00000264382.3	-	29	3547	c.3485C>A	c.(3484-3486)gCt>gAt	p.A1162D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1162	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AACACCATGAGCATTGCCCTC	0.323										HNSCC(35;0.089)																																							0													108.0	107.0	108.0					3																	164735793		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3485C>A	3.37:g.164735793G>T	ENSP00000264382:p.Ala1162Asp		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.A1162D	ENST00000264382.3	37	c.3485	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864648	0.51482	.	.	ENSG00000090402	ENST00000264382	D	0.91407	-2.84	5.17	5.17	0.71159	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.97185	0.9080	H	0.96691	3.865	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98266	1.0501	10	0.87932	D	0	.	18.864	0.92283	0.0:0.0:1.0:0.0	.	1162	P14410	SUIS_HUMAN	D	1162	ENSP00000264382:A1162D	ENSP00000264382:A1162D	A	-	2	0	SI	166218487	1.000000	0.71417	0.920000	0.36463	0.108000	0.19459	8.511000	0.90535	2.689000	0.91719	0.491000	0.48974	GCT	SI	-	superfamily_Glyco_hydro-type_carb-bd		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	G	NM_001041		164735793	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC27A5	10998	genome.wustl.edu	37	19	59022902	59022902	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr19:59022902C>T	ENST00000263093.2	-	1	530	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G141S	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	141					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTGACTGAGCCGGCCCCAGGC	0.697																																																	0													10.0	10.0	10.0					19																	59022902		2181	4261	6442	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.421G>A	19.37:g.59022902C>T	ENSP00000263093:p.Gly141Ser		B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G141S	ENST00000263093.2	37	c.421	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	3.815	-0.038896	0.07497	.	.	ENSG00000083807	ENST00000263093	T	0.39592	1.07	4.18	-3.86	0.04230	.	1.879750	0.02313	N	0.072275	T	0.16557	0.0398	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.26292	-1.0107	10	0.06625	T	0.88	-1.9815	6.3451	0.21345	0.6476:0.1491:0.2034:0.0	.	141	Q9Y2P5	S27A5_HUMAN	S	141	ENSP00000263093:G141S	ENSP00000263093:G141S	G	-	1	0	SLC27A5	63714714	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.016000	0.03633	-0.558000	0.06118	-0.519000	0.04390	GGC	SLC27A5	-	NULL		0.697	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59022902	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	0.000	T
SLC2A11	66035	genome.wustl.edu	37	22	24227028	24227028	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr22:24227028G>T	ENST00000345044.6	+	12	1751	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*	SLC2A11_ENST00000316185.8_Nonsense_Mutation_p.E498*|SLC2A11_ENST00000398356.2_Nonsense_Mutation_p.E502*|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	495					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CCAGTCAACAGAACTCTAGTC	0.587																																																	0													38.0	37.0	38.0					22																	24227028		2203	4300	6503	SO:0001587	stop_gained	66035			AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.1483G>T	22.37:g.24227028G>T	ENSP00000342542:p.Glu495*		E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.E502*	ENST00000345044.6	37	c.1504	CCDS46673.1	22	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034805	0.54896	.	.	ENSG00000133460	ENST00000345044;ENST00000398356;ENST00000316185	.	.	.	3.25	2.22	0.28083	.	0.941234	0.08919	N	0.874721	.	.	.	.	.	.	0.22366	N	0.999167	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	8.5766	0.33603	0.0:0.2367:0.7633:0.0	.	.	.	.	X	495;502;498	.	ENSP00000326748:E498X	E	+	1	0	SLC2A11	22557028	0.004000	0.15560	0.387000	0.26183	0.043000	0.13939	0.937000	0.28951	0.950000	0.37743	-0.230000	0.12252	GAA	SLC2A11	-	NULL		0.587	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A11	HGNC	protein_coding	OTTHUMT00000319889.3	G	NM_030807		24227028	+1	no_errors	ENST00000398356	ensembl	human	known	70_37	nonsense	SNP	0.439	T
SLC38A1	81539	genome.wustl.edu	37	12	46589960	46589960	+	Intron	SNP	C	C	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr12:46589960C>A	ENST00000398637.5	-	16	2057				SLC38A1_ENST00000552197.1_Nonsense_Mutation_p.E488*|SLC38A1_ENST00000549049.1_Intron|SLC38A1_ENST00000546893.1_Intron|SLC38A1_ENST00000439706.1_Intron|SLC38A1_ENST00000549633.1_5'Flank	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ATTATAAGTTCCTTGCGCTTG	0.443																																																	0																																										SO:0001627	intron_variant	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1362+1542G>T	12.37:g.46589960C>A			Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Nonsense_Mutation	SNP	pfam_AA_transpt_TM	p.E488*	ENST00000398637.5	37	c.1462	CCDS41774.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.644078	0.97730	.	.	ENSG00000111371	ENST00000552197	.	.	.	3.04	-0.0636	0.13776	.	.	.	.	.	.	.	.	.	.	.	0.25459	N	0.987937	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.8238	0.03116	0.1268:0.2134:0.4646:0.1951	.	.	.	.	X	488	.	ENSP00000449756:E488X	E	-	1	0	SLC38A1	44876227	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.526000	0.06207	-0.009000	0.14296	-0.344000	0.07964	GAA	SLC38A1	-	NULL		0.443	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	C			46589960	-1	no_errors	ENST00000552197	ensembl	human	novel	70_37	nonsense	SNP	0.001	A
SNX14	57231	genome.wustl.edu	37	6	86235932	86235932	+	Silent	SNP	C	C	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr6:86235932C>A	ENST00000314673.3	-	21	2195	c.2019G>T	c.(2017-2019)ctG>ctT	p.L673L	SNX14_ENST00000346348.3_Silent_p.L620L|SNX14_ENST00000369627.2_Silent_p.L664L|SNX14_ENST00000505648.1_Silent_p.L621L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	673	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GACTATTACTCAGTTCTGGAT	0.338																																																	0													38.0	38.0	38.0					6																	86235932		2202	4300	6502	SO:0001819	synonymous_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2019G>T	6.37:g.86235932C>A			B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.L673	ENST00000314673.3	37	c.2019	CCDS5004.1	6																																																																																			SNX14	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.338	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	C	NM_153816		86235932	-1	no_errors	ENST00000314673	ensembl	human	known	70_37	silent	SNP	1.000	A
STAB1	23166	genome.wustl.edu	37	3	52552812	52552812	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr3:52552812G>A	ENST00000321725.6	+	48	5037	c.4961G>A	c.(4960-4962)cGg>cAg	p.R1654Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1654	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGCGGCTGCGGAGCGAGGAC	0.701																																																	0													27.0	32.0	31.0					3																	52552812		2201	4297	6498	SO:0001583	missense	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4961G>A	3.37:g.52552812G>A	ENSP00000312946:p.Arg1654Gln		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R1654Q	ENST00000321725.6	37	c.4961	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	9.022	0.985075	0.18889	.	.	ENSG00000010327	ENST00000321725	D	0.90385	-2.66	5.26	0.776	0.18532	FAS1 domain (5);	1.779270	0.02662	N	0.107612	D	0.83110	0.5183	N	0.21508	0.67	0.09310	N	1	B	0.18310	0.027	B	0.15052	0.012	T	0.68161	-0.5482	10	0.35671	T	0.21	.	3.944	0.09339	0.4194:0.0:0.3398:0.2407	.	1654	Q9NY15	STAB1_HUMAN	Q	1654	ENSP00000312946:R1654Q	ENSP00000312946:R1654Q	R	+	2	0	STAB1	52527852	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.158000	0.10070	0.190000	0.20209	-0.140000	0.14226	CGG	STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.701	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	G	NM_015136		52552812	+1	no_errors	ENST00000321725	ensembl	human	known	70_37	missense	SNP	0.000	A
T	6862	genome.wustl.edu	37	6	166571847	166571847	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr6:166571847G>A	ENST00000296946.2	-	9	1732	c.1264C>T	c.(1264-1266)Cgc>Tgc	p.R422C	T_ENST00000366871.3_Missense_Mutation_p.R364C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	422					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II 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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCTATGAGGCGGCCTTGGGCT	0.637									Chordoma, Familial Clustering of																																								0													123.0	128.0	126.0					6																	166571847		2203	4300	6503	SO:0001583	missense	6862	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1264C>T	6.37:g.166571847G>A	ENSP00000296946:p.Arg422Cys		E7ERD6|Q4KMP4	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box	p.R422C	ENST00000296946.2	37	c.1264	CCDS5290.1	6	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312748	0.40895	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.84873	-1.91;-1.91	4.64	4.64	0.57946	.	0.064020	0.64402	D	0.000014	D	0.83454	0.5258	M	0.78049	2.395	0.50467	D	0.999877	D;D;D	0.67145	0.996;0.986;0.996	P;P;P	0.48815	0.591;0.487;0.487	D	0.84515	0.0624	10	0.45353	T	0.12	.	11.7244	0.51702	0.0:0.0:0.7006:0.2994	.	364;422;364	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	C	422;422;364	ENSP00000296946:R422C;ENSP00000355836:R364C	ENSP00000296946:R422C	R	-	1	0	T	166491837	0.994000	0.37717	0.973000	0.42090	0.120000	0.20174	1.921000	0.40035	2.264000	0.75181	0.655000	0.94253	CGC	T	-	NULL		0.637	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T	HGNC	protein_coding	OTTHUMT00000043037.2	G	NM_003181		166571847	-1	no_errors	ENST00000296946	ensembl	human	known	70_37	missense	SNP	0.893	A
TAF4	6874	genome.wustl.edu	37	20	60584215	60584215	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr20:60584215C>T	ENST00000252996.4	-	5	1776	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	593	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.V593L(1)|p.V593M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CATTTCTTCACGTTTTCCATA	0.343																																																	2	Substitution - Missense(2)	lung(1)|endometrium(1)											67.0	67.0	67.0					20																	60584215		2203	4300	6503	SO:0001583	missense	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1777G>A	20.37:g.60584215C>T	ENSP00000252996:p.Val593Met		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.V593M	ENST00000252996.4	37	c.1777	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621095	0.87460	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.52295	0.67;0.67	5.15	5.15	0.70609	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79276	-0.1870	10	0.66056	D	0.02	-17.5576	18.5942	0.91225	0.0:1.0:0.0:0.0	.	593	O00268	TAF4_HUMAN	M	593;457	ENSP00000252996:V593M;ENSP00000399091:V457M	ENSP00000252996:V593M	V	-	1	0	TAF4	60017610	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.513000	0.81739	2.385000	0.81259	0.561000	0.74099	GTG	TAF4	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1		0.343	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	C	NM_003185		60584215	-1	no_errors	ENST00000252996	ensembl	human	known	70_37	missense	SNP	1.000	T
TCF25	22980	genome.wustl.edu	37	16	89954104	89954104	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr16:89954104G>A	ENST00000263346.8	+	5	649	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	TCF25_ENST00000263347.7_5'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	198					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TTTGGTGCCCGGGCAATCCTG	0.458																																																	0													59.0	63.0	62.0					16																	89954104		2198	4300	6498	SO:0001583	missense	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.593G>A	16.37:g.89954104G>A	ENSP00000263346:p.Arg198Gln		Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.R198Q	ENST00000263346.8	37	c.593	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962264	0.92791	.	.	ENSG00000141002	ENST00000263346;ENST00000310554	.	.	.	5.69	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	L	0.55213	1.73	0.80722	D	1	D	0.69078	0.997	P	0.57720	0.826	T	0.69599	-0.5102	9	0.66056	D	0.02	.	13.1363	0.59411	0.0777:0.0:0.9223:0.0	.	198	Q9BQ70	TCF25_HUMAN	Q	198	.	ENSP00000263346:R198Q	R	+	2	0	TCF25	88481605	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	8.237000	0.89807	1.402000	0.46780	0.650000	0.86243	CGG	TCF25	-	NULL		0.458	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	G	NM_014972		89954104	+1	no_errors	ENST00000263346	ensembl	human	known	70_37	missense	SNP	1.000	A
TRAPPC5	126003	genome.wustl.edu	37	19	7747433	7747433	+	Silent	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr19:7747433C>T	ENST00000317378.5	+	2	481	c.294C>T	c.(292-294)ttC>ttT	p.F98F	TRAPPC5_ENST00000596148.1_Silent_p.F98F|CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000426877.2_Silent_p.F98F|TRAPPC5_ENST00000595985.1_Silent_p.F31F	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	98					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						AGGCGCTCTTCGGCAAGGAGG	0.642																																																	0													34.0	38.0	37.0					19																	7747433		2185	4272	6457	SO:0001819	synonymous_variant	126003			BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"""Trafficking protein particle complex"""	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.294C>T	19.37:g.7747433C>T			A8K7I6	Silent	SNP	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31	p.F98	ENST00000317378.5	37	c.294	CCDS42490.1	19																																																																																			TRAPPC5	-	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31		0.642	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC5	HGNC	protein_coding	OTTHUMT00000461252.1	C	XM_058961		7747433	+1	no_errors	ENST00000317378	ensembl	human	known	70_37	silent	SNP	0.987	T
TRH	7200	genome.wustl.edu	37	3	129694732	129694732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr3:129694732C>T	ENST00000302649.3	+	2	600	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	TRH_ENST00000507066.1_Nonsense_Mutation_p.Q25*	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	25					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CGGCCGTGCTCAGCCAGAGGC	0.692																																					Esophageal Squamous(60;321 1330 17401 41911)												0													14.0	16.0	15.0					3																	129694732		2167	4208	6375	SO:0001587	stop_gained	7200				CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.73C>T	3.37:g.129694732C>T	ENSP00000303452:p.Gln25*		B2R8R1|Q2TB83	Nonsense_Mutation	SNP	pfam_TRH,pirsf_TRH	p.Q25*	ENST00000302649.3	37	c.73	CCDS3066.1	3	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209833	0.58343	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	.	.	.	3.98	2.09	0.27110	.	0.935512	0.09004	N	0.862528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.2419	4.8984	0.13762	0.0:0.6552:0.22:0.1247	.	.	.	.	X	25	.	ENSP00000303452:Q25X	Q	+	1	0	TRH	131177422	0.519000	0.26242	0.115000	0.21578	0.319000	0.28217	1.534000	0.36051	0.412000	0.25729	0.484000	0.47621	CAG	TRH	-	pfam_TRH,pirsf_TRH		0.692	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRH	HGNC	protein_coding	OTTHUMT00000356592.1	C	NM_007117		129694732	+1	no_errors	ENST00000302649	ensembl	human	known	70_37	nonsense	SNP	0.034	T
AC005013.5	0	genome.wustl.edu	37	7	28996305	28996305	+	lincRNA	SNP	T	T	G			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr7:28996305T>G	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							GAGCTGCGGCTGCGGCGGCAG	0.711																																																	0													14.0	17.0	16.0					7																	28996305		1577	3611	5188			9865																															7.37:g.28996305T>G				RNA	SNP	-	NULL	ENST00000436594.1	37	NULL		7																																																																																			TRIL	-	-		0.711	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	TRIL	HGNC	lincRNA	OTTHUMT00000327953.3	T			28996305	-1	no_errors	ENST00000322982	ensembl	human	known	70_37	rna	SNP	0.282	G
USP43	124739	genome.wustl.edu	37	17	9604465	9604465	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr17:9604465C>T	ENST00000285199.7	+	11	1661	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	USP43_ENST00000570475.1_Missense_Mutation_p.A522V|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	522	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GAGGAGCGAGCGCAGGATGCC	0.582																																																	0													13.0	18.0	17.0					17																	9604465		2140	4252	6392	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1565C>T	17.37:g.9604465C>T	ENSP00000285199:p.Ala522Val		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.A522V	ENST00000285199.7	37	c.1565	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	2.006	-0.428299	0.04701	.	.	ENSG00000154914	ENST00000285199	T	0.06294	3.32	4.98	3.9	0.45041	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.588860	0.16308	N	0.220140	T	0.01421	0.0046	N	0.00337	-1.62	0.28175	N	0.92839	B;B;B	0.12630	0.006;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.002	T	0.41179	-0.9523	10	0.05721	T	0.95	-12.2301	7.2279	0.26026	0.0:0.1156:0.0:0.8844	.	522;211;522	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	V	522	ENSP00000285199:A522V	ENSP00000285199:A522V	A	+	2	0	USP43	9545190	1.000000	0.71417	0.965000	0.40720	0.361000	0.29550	5.782000	0.68973	0.768000	0.33290	0.563000	0.77884	GCG	USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.582	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9604465	+1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	0.980	T
TBC1D31	93594	genome.wustl.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T	rs570441854		TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																																	0									,	6,4258		0,6,2126					,	5.7	1.0			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT			B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Frame_Shift_Ins	INS	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.H632fs	ENST00000287380.1	37	c.1886_1885	CCDS6338.1	8																																																																																			WDR67	-	superfamily_Rab-GTPase-TBC_dom		0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR67	HGNC	protein_coding	OTTHUMT00000381721.1	-	NM_145647	Intron	124140521	+1	no_errors	ENST00000287380	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
WDR92	116143	genome.wustl.edu	37	2	68358570	68358570	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr2:68358570G>T	ENST00000295121.6	-	8	990	c.874C>A	c.(874-876)Cct>Act	p.P292T	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000492039.2_5'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	292					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CGCTGAATAGGGTATTCACTG	0.388																																																	0													68.0	66.0	67.0					2																	68358570		2203	4300	6503	SO:0001583	missense	116143			AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.874C>A	2.37:g.68358570G>T	ENSP00000295121:p.Pro292Thr		Q96CR6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P292T	ENST00000295121.6	37	c.874	CCDS1884.1	2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857079	0.91433	.	.	ENSG00000243667	ENST00000295121	D	0.89939	-2.59	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000006	D	0.96103	0.8730	M	0.93328	3.405	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96538	0.9398	10	0.87932	D	0	.	18.536	0.91010	0.0:0.0:1.0:0.0	.	292	Q96MX6	WDR92_HUMAN	T	292	ENSP00000295121:P292T	ENSP00000295121:P292T	P	-	1	0	WDR92	68212074	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.420000	0.97426	2.890000	0.99128	0.585000	0.79938	CCT	WDR92	-	superfamily_WD40_repeat_dom		0.388	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR92	HGNC	protein_coding	OTTHUMT00000251754.2	G	NM_138458		68358570	-1	no_errors	ENST00000295121	ensembl	human	known	70_37	missense	SNP	1.000	T
ZIC3	7547	genome.wustl.edu	37	X	136659320	136659320	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chrX:136659320G>A	ENST00000370606.3	+	3	1438	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N				O60481	ZIC3_HUMAN	Zic family member 3	0					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					TCTAATTCCTGACGAAGAACT	0.448																																																	0																																										SO:0001583	missense	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000370606.3:c.1264G>A	X.37:g.136659320G>A	ENSP00000359638:p.Asp422Asn		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D422N	ENST00000370606.3	37	c.1264		X	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521542	0.64747	.	.	ENSG00000156925	ENST00000370606	T	0.10382	2.88	5.01	5.01	0.66863	.	.	.	.	.	T	0.16171	0.0389	.	.	.	0.23872	N	0.996609	.	.	.	.	.	.	T	0.09207	-1.0685	6	0.41790	T	0.15	.	12.5877	0.56426	0.0:0.0:1.0:0.0	.	.	.	.	N	422	ENSP00000359638:D422N	ENSP00000359638:D422N	D	+	1	0	ZIC3	136486986	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.484000	0.60271	2.465000	0.83290	0.529000	0.55759	GAC	ZIC3	-	NULL		0.448	ZIC3-001	KNOWN	basic	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058524.1	G			136659320	+1	no_errors	ENST00000370606	ensembl	human	known	70_37	missense	SNP	0.996	A
ZNF479	90827	genome.wustl.edu	37	7	57188264	57188264	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A6DV-01A-11D-A32I-09	TCGA-Q1-A6DV-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b8796c74-495c-460b-9787-199170dfef8d	6bb8b840-0027-4610-b4c8-2c79aeb77c26	g.chr7:57188264G>T	ENST00000331162.4	-	5	1128	c.858C>A	c.(856-858)aaC>aaA	p.N286K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTCTTGTGGTTAGTAAGTG	0.448																																																	0													31.0	32.0	31.0					7																	57188264		2052	4213	6265	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.858C>A	7.37:g.57188264G>T	ENSP00000333776:p.Asn286Lys			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.N286K	ENST00000331162.4	37	c.858	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.891667	0.00060	.	.	ENSG00000185177	ENST00000331162	T	0.15017	2.46	1.01	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.11313	0.125	0.09310	N	1	B	0.11235	0.004	B	0.17722	0.019	T	0.41378	-0.9512	9	0.02654	T	1	.	5.6745	0.17741	0.0:0.0:0.5772:0.4227	.	286	Q96JC4	ZN479_HUMAN	K	286	ENSP00000333776:N286K	ENSP00000333776:N286K	N	-	3	2	ZNF479	57192206	0.000000	0.05858	0.012000	0.15200	0.011000	0.07611	-7.591000	0.00033	-0.530000	0.06349	-0.538000	0.04264	AAC	ZNF479	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	G	XM_291202		57188264	-1	no_errors	ENST00000331162	ensembl	human	known	70_37	missense	SNP	0.017	T
