#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
A2M	2	genome.wustl.edu	37	12	9221429	9221429	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:9221429G>A	ENST00000318602.7	-	34	4580	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	A2M-AS1_ENST00000499762.1_RNA	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1425					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CTCAGTGTCTGATTTGACACC	0.403																																						dbGAP											0													66.0	63.0	64.0					12																	9221429		1885	4105	5990	-	-	-	SO:0001587	stop_gained	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.4273C>T	12.37:g.9221429G>A	ENSP00000323929:p.Gln1425*		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Nonsense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.Q1425*	ENST00000318602.7	37	c.4273	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	G	45	11.320720	0.99546	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	.	.	.	4.59	0.168	0.15012	.	0.697259	0.12976	N	0.423733	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	9.2169	0.37353	0.0:0.4921:0.2522:0.2557	.	.	.	.	X	1425;1440	.	ENSP00000323929:Q1425X	Q	-	1	0	A2M	9112696	0.230000	0.23740	0.984000	0.44739	0.907000	0.53573	0.132000	0.15891	0.218000	0.20820	-0.169000	0.13324	CAG	A2M	-	pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd	ENSG00000175899		0.403	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	50	0.00	0	G	NM_000014		9221429	9221429	-1	no_errors	ENST00000318602	ensembl	human	known	69_37n	nonsense	100	11.50	13	SNP	0.956	A
ABCC1	4363	genome.wustl.edu	37	16	16208804	16208804	+	Silent	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr16:16208804C>A	ENST00000399410.3	+	23	3436	c.3261C>A	c.(3259-3261)atC>atA	p.I1087I	ABCC1_ENST00000349029.5_Silent_p.I972I|ABCC1_ENST00000346370.5_Silent_p.I1031I|ABCC1_ENST00000351154.5_Silent_p.I1028I|ABCC1_ENST00000345148.5_Silent_p.I1087I|ABCC1_ENST00000399408.2_Silent_p.I1097I	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1087	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ACTCCATGATCCCGGAGGTCA	0.587																																						dbGAP											0													43.0	50.0	48.0					16																	16208804		2160	4277	6437	-	-	-	SO:0001819	synonymous_variant	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3261C>A	16.37:g.16208804C>A			A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	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.P996T	ENST00000399410.3	37	c.2986	CCDS42122.1	16																																																																																			ABCC1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	ENSG00000103222		0.587	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	34	0.00	0	C	NM_004996		16208804	16208804	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000572882	ensembl	human	novel	69_37n	missense	106	10.92	13	SNP	0.997	A
ACBD4	79777	genome.wustl.edu	37	17	43220876	43220876	+	IGR	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr17:43220876T>C	ENST00000376955.4	+	0	1453				ACBD4_ENST00000586346.1_Silent_p.S298S|ACBD4_ENST00000592162.1_Missense_Mutation_p.L239P|ACBD4_ENST00000321854.8_Missense_Mutation_p.F286L|ACBD4_ENST00000398322.3_Missense_Mutation_p.F286L|ACBD4_ENST00000591859.1_Silent_p.S298S|ACBD4_ENST00000431281.1_Silent_p.S298S	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4								fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						GCTGCTCTTCTTCCTCCTGTG	0.642																																						dbGAP											0													56.0	61.0	59.0					17																	43220876		2004	4151	6155	-	-	-	SO:0001628	intergenic_variant	0			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111		17.37:g.43220876T>C			D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.F286L	ENST00000376955.4	37	c.856	CCDS45711.1	17	.	.	.	.	.	.	.	.	.	.	T	6.128	0.391847	0.11581	.	.	ENSG00000181513	ENST00000398322	T	0.08720	3.06	5.67	-1.15	0.09709	.	.	.	.	.	T	0.02688	0.0081	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47328	-0.9126	8	0.02654	T	1	.	4.8239	0.13407	0.1774:0.4803:0.0:0.3423	.	286	Q8NC06-2	.	L	286	ENSP00000381367:F286L	ENSP00000381367:F286L	F	+	1	0	ACBD4	40576659	0.964000	0.33143	0.973000	0.42090	0.678000	0.39670	0.071000	0.14594	-0.162000	0.10964	-0.366000	0.07423	TTC	ACBD4	-	NULL	ENSG00000181513		0.642	ACBD4-006	KNOWN	basic|CCDS	protein_coding	ACBD4	HGNC	protein_coding	OTTHUMT00000449816.1	34	0.00	0	T	NM_024722		43220876	43220876	+1	no_errors	ENST00000321854	ensembl	human	known	69_37n	missense	31	38.00	19	SNP	0.926	C
ADAM9	8754	genome.wustl.edu	37	8	38961171	38961171	+	Silent	SNP	T	T	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr8:38961171T>A	ENST00000487273.2	+	22	2490	c.2412T>A	c.(2410-2412)atT>atA	p.I804I		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	804				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GAAACTTAATTCCTGCCCGTC	0.428																																						dbGAP											0													170.0	167.0	168.0					8																	38961171		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2412T>A	8.37:g.38961171T>A			B7ZLN7|Q10718|Q8NFM6	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.I804	ENST00000487273.2	37	c.2412	CCDS6112.1	8																																																																																			ADAM9	-	NULL	ENSG00000168615		0.428	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	93	0.00	0	T			38961171	38961171	+1	no_errors	ENST00000487273	ensembl	human	known	69_37n	silent	170	59.67	256	SNP	1.000	A
ADAMTS5	11096	genome.wustl.edu	37	21	28306826	28306826	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr21:28306826G>T	ENST00000284987.5	-	4	1769	c.1648C>A	c.(1648-1650)Cag>Aag	p.Q550K	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	550	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CATTTGCCCTGCAGGCAGATT	0.502																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	dbGAP											0													87.0	84.0	85.0					21																	28306826		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1648C>A	21.37:g.28306826G>T	ENSP00000284987:p.Gln550Lys		Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.Q550K	ENST00000284987.5	37	c.1648	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741526	0.30865	.	.	ENSG00000154736	ENST00000284987	T	0.61510	0.1	5.68	4.79	0.61399	.	0.055155	0.85682	D	0.000000	T	0.34687	0.0906	N	0.11131	0.1	0.52501	D	0.999957	B	0.22604	0.072	B	0.16289	0.015	T	0.30446	-0.9978	10	0.02654	T	1	.	15.9852	0.80147	0.0:0.0:0.8643:0.1357	.	550	Q9UNA0	ATS5_HUMAN	K	550	ENSP00000284987:Q550K	ENSP00000284987:Q550K	Q	-	1	0	ADAMTS5	27228697	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	9.405000	0.97313	1.389000	0.46526	0.557000	0.71058	CAG	ADAMTS5	-	smart_ADAM_Cys-rich	ENSG00000154736		0.502	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	47	0.00	0	G			28306826	28306826	-1	no_errors	ENST00000284987	ensembl	human	known	69_37n	missense	104	16.80	21	SNP	1.000	T
ADCK2	90956	genome.wustl.edu	37	7	140373340	140373340	+	Silent	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr7:140373340C>T	ENST00000072869.4	+	1	388	c.210C>T	c.(208-210)gtC>gtT	p.V70V	ADCK2_ENST00000476491.1_Silent_p.V70V	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	70						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGCGAAGGGTCCGCTGCAGCG	0.731																																						dbGAP											0													14.0	17.0	16.0					7																	140373340		2185	4269	6454	-	-	-	SO:0001819	synonymous_variant	0			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.210C>T	7.37:g.140373340C>T			Q96CN6|Q9Y6T5	Silent	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.V70	ENST00000072869.4	37	c.210	CCDS5861.1	7																																																																																			ADCK2	-	NULL	ENSG00000133597		0.731	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK2	HGNC	protein_coding	OTTHUMT00000348734.1	12	0.00	0	C	NM_052853		140373340	140373340	+1	no_errors	ENST00000072869	ensembl	human	known	69_37n	silent	6	60.00	9	SNP	0.000	T
AGTPBP1	23287	genome.wustl.edu	37	9	88272558	88272558	+	Splice_Site	SNP	T	T	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr9:88272558T>G	ENST00000357081.3	-	10	845	c.701A>C	c.(700-702)aAa>aCa	p.K234T	AGTPBP1_ENST00000376109.3_Splice_Site_p.K286T|AGTPBP1_ENST00000432218.1_Splice_Site_p.K72T|AGTPBP1_ENST00000376083.3_Splice_Site_p.K234T|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000337006.4_Splice_Site_p.K163N|AGTPBP1_ENST00000376080.1_Splice_Site_p.K163N			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	234					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGCATTTGTTTCTTTAACAAA	0.343																																						dbGAP											0													47.0	42.0	43.0					9																	88272558		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.701-1A>C	9.37:g.88272558T>G			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.K286T	ENST00000357081.3	37	c.857		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.010268|4.010268	0.75046|0.75046	.|.	.|.	ENSG00000135049|ENSG00000135049	ENST00000337006;ENST00000376080|ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T|T;T;T;T	0.50813|0.45276	0.73;0.73|0.9;0.9;0.9;0.9	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Armadillo-like helical (1);Armadillo-type fold (1);	0.089490|0.089490	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.59252|0.59252	0.2180|0.2180	M|M	0.74881|0.74881	2.28|2.28	0.52099|0.52099	D|D	0.999946|0.999946	.|D;D;D;D	.|0.67145	.|0.996;0.969;0.993;0.985	.|P;P;P;P	.|0.61397	.|0.856;0.711;0.888;0.888	T|T	0.63001|0.63001	-0.6734|-0.6734	8|10	0.87932|0.56958	D|D	0|0.05	.|.	10.8421|10.8421	0.46722|0.46722	0.0:0.0736:0.0:0.9264|0.0:0.0736:0.0:0.9264	.|.	.|286;234;72;234	.|Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.|.;CBPC1_HUMAN;.;.	N|T	163|234;234;286;72	ENSP00000338512:K163N;ENSP00000365248:K163N|ENSP00000349592:K234T;ENSP00000365251:K234T;ENSP00000365277:K286T;ENSP00000402804:K72T	ENSP00000338512:K163N|ENSP00000349592:K234T	K|K	-|-	3|2	2|0	AGTPBP1|AGTPBP1	87462378|87462378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.922000|4.922000	0.63404|0.63404	2.101000|2.101000	0.63845|0.63845	0.528000|0.528000	0.53228|0.53228	AAA|AAA	AGTPBP1	-	superfamily_ARM-type_fold	ENSG00000135049		0.343	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	26	0.00	0	T	NM_015239	Missense_Mutation	88272558	88272558	-1	no_errors	ENST00000376109	ensembl	human	known	69_37n	missense	41	14.58	7	SNP	1.000	G
ALCAM	214	genome.wustl.edu	37	3	105266099	105266102	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	AAAG	AAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:105266099_105266102delAAAG	ENST00000306107.5	+	10	1711_1714	c.1211_1214delAAAG	c.(1210-1215)aaaagafs	p.KR404fs	ALCAM_ENST00000472644.2_Frame_Shift_Del_p.KR404fs|ALCAM_ENST00000486979.2_Frame_Shift_Del_p.KR353fs|ALCAM_ENST00000389927.4_Frame_Shift_Del_p.KR126fs	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	404	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.E406fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGACTAAAGAAAAGAGAGTCATTG	0.377																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1211_1214delAAAG	3.37:g.105266099_105266102delAAAG	ENSP00000305988:p.Lys404fs		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Frame_Shift_Del	DEL	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.R405fs	ENST00000306107.5	37	c.1211_1214	CCDS33810.1	3																																																																																			ALCAM	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000170017		0.377	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1	32	0.00	0	AAAG	NM_001627		105266099	105266102	+1	no_errors	ENST00000306107	ensembl	human	known	69_37n	frame_shift_del	52	25.71	18	DEL	1.000:1.000:1.000:1.000	-
AMBN	258	genome.wustl.edu	37	4	71462727	71462727	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr4:71462727G>T	ENST00000322937.6	+	3	199	c.96G>T	c.(94-96)caG>caT	p.Q32H	AMBN_ENST00000449493.2_Missense_Mutation_p.Q32H	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	32					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCTTTCCTCAGCAATCTGGAA	0.368																																						dbGAP											0													125.0	124.0	124.0					4																	71462727		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.96G>T	4.37:g.71462727G>T	ENSP00000313809:p.Gln32His		Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	pfam_Amelin,smart_Amelin	p.Q32H	ENST00000322937.6	37	c.96	CCDS3543.1	4	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997563	0.35226	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.39229	1.09;1.09	5.27	2.49	0.30216	.	0.263140	0.32258	N	0.006341	T	0.51686	0.1689	M	0.61703	1.905	0.38807	D	0.955335	D	0.58970	0.984	P	0.60541	0.876	T	0.50759	-0.8790	10	0.40728	T	0.16	-0.3561	7.7203	0.28729	0.2941:0.0:0.7059:0.0	.	32	Q9NP70	AMBN_HUMAN	H	32	ENSP00000313809:Q32H;ENSP00000391234:Q32H	ENSP00000313809:Q32H	Q	+	3	2	AMBN	71497316	1.000000	0.71417	0.997000	0.53966	0.576000	0.36127	0.689000	0.25437	0.676000	0.31285	0.655000	0.94253	CAG	AMBN	-	pfam_Amelin,smart_Amelin	ENSG00000178522		0.368	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBN	HGNC	protein_coding	OTTHUMT00000252165.1	92	0.00	0	G	NM_016519		71462727	71462727	+1	no_errors	ENST00000322937	ensembl	human	known	69_37n	missense	176	18.14	39	SNP	0.996	T
ANO7	50636	genome.wustl.edu	37	2	242141634	242141634	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:242141634C>G	ENST00000274979.8	+	8	903	c.800C>G	c.(799-801)cCg>cGg	p.P267R	ANO7_ENST00000402430.3_Missense_Mutation_p.P266R	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	267					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCAAGACCCCGTATGGCCAC	0.597																																						dbGAP											0													83.0	71.0	75.0					2																	242141634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.800C>G	2.37:g.242141634C>G	ENSP00000274979:p.Pro267Arg		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.P267R	ENST00000274979.8	37	c.800	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	C	7.451	0.642615	0.14451	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.67698	-0.28;-0.28	3.77	0.398	0.16319	.	0.780921	0.10872	N	0.624763	T	0.47078	0.1426	L	0.33245	0.995	0.09310	N	1	B	0.17667	0.023	B	0.14578	0.011	T	0.26608	-1.0098	10	0.11485	T	0.65	.	5.2553	0.15544	0.3042:0.5855:0.0:0.1102	.	267	Q6IWH7	ANO7_HUMAN	R	267;266	ENSP00000274979:P267R;ENSP00000385418:P266R	ENSP00000274979:P267R	P	+	2	0	ANO7	241790307	0.000000	0.05858	0.290000	0.24890	0.828000	0.46876	-0.173000	0.09854	0.575000	0.29434	0.467000	0.42956	CCG	ANO7	-	NULL	ENSG00000146205		0.597	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	29	0.00	0	C	NM_001001891		242141634	242141634	+1	no_errors	ENST00000274979	ensembl	human	known	69_37n	missense	73	27.72	28	SNP	0.001	G
APC	324	genome.wustl.edu	37	5	112175102	112175102	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr5:112175102T>A	ENST00000457016.1	+	16	4191	c.3811T>A	c.(3811-3813)Ttt>Att	p.F1271I	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.F1271I|APC_ENST00000257430.4_Missense_Mutation_p.F1271I			P25054	APC_HUMAN	adenomatous polyposis coli	1271	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCCAATATGTTTTTCAAGATG	0.373		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)											54.0	56.0	55.0					5																	112175102		2202	4300	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3811T>A	5.37:g.112175102T>A	ENSP00000413133:p.Phe1271Ile		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.F1271I	ENST00000457016.1	37	c.3811	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717682	0.68844	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.93122	0.7810	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92936	0.6368	9	.	.	.	-18.8974	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1273;1271	Q4LE70;P25054	.;APC_HUMAN	I	1271	ENSP00000413133:F1271I;ENSP00000257430:F1271I;ENSP00000427089:F1271I;ENSP00000423828:F1271I	.	F	+	1	0	APC	112203001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.308000	0.77769	0.533000	0.62120	TTT	APC	-	pfam_APC_Cys-rich_rpt	ENSG00000134982		0.373	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	25	0.00	0	T	NM_000038		112175102	112175102	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21231856	21231856	+	Silent	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:21231856T>C	ENST00000233242.1	-	26	8011	c.7884A>G	c.(7882-7884)tcA>tcG	p.S2628S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2628					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTATCTGAACTGATGGAATCC	0.403																																						dbGAP											0													76.0	84.0	81.0					2																	21231856		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7884A>G	2.37:g.21231856T>C			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.S2628	ENST00000233242.1	37	c.7884	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	19	0.00	0	T			21231856	21231856	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	silent	22	43.59	17	SNP	0.003	C
ARMC1	55156	genome.wustl.edu	37	8	66525619	66525620	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr8:66525619_66525620delTG	ENST00000276569.3	-	4	568_569	c.324_325delCA	c.(322-327)gacattfs	p.I109fs	ARMC1_ENST00000523384.1_5'UTR|ARMC1_ENST00000458464.2_Intron	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	109					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			GACTGAAGAATGTCATAGATTT	0.366																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.324_325delCA	8.37:g.66525619_66525620delTG	ENSP00000276569:p.Ile109fs		B4E2W7|Q9H018|Q9H820	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd	p.I109fs	ENST00000276569.3	37	c.325_324	CCDS6181.1	8																																																																																			ARMC1	-	pirsf_UCP013899_metal-bd	ENSG00000104442		0.366	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC1	HGNC	protein_coding	OTTHUMT00000378480.1	84	0.00	0	TG	NM_018120		66525619	66525620	-1	no_errors	ENST00000276569	ensembl	human	known	69_37n	frame_shift_del	111	40.21	78	DEL	1.000:1.000	-
ASCC3	10973	genome.wustl.edu	37	6	101075523	101075523	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr6:101075523A>T	ENST00000369162.2	-	29	4929	c.4585T>A	c.(4585-4587)Ttt>Att	p.F1529I		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1529					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGACCTGGAAAGCCTTGAATG	0.393																																						dbGAP											0													96.0	89.0	91.0					6																	101075523		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4585T>A	6.37:g.101075523A>T	ENSP00000358159:p.Phe1529Ile		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F1529I	ENST00000369162.2	37	c.4585	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717003	0.89205	.	.	ENSG00000112249	ENST00000369162	D	0.91011	-2.77	5.67	5.67	0.87782	.	0.053637	0.85682	D	0.000000	D	0.93161	0.7822	M	0.67517	2.055	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	D	0.94012	0.7285	10	0.72032	D	0.01	.	15.9016	0.79380	1.0:0.0:0.0:0.0	.	1529	Q8N3C0	HELC1_HUMAN	I	1529	ENSP00000358159:F1529I	ENSP00000358159:F1529I	F	-	1	0	ASCC3	101182244	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.265000	0.95647	2.158000	0.67659	0.454000	0.30748	TTT	ASCC3	-	NULL	ENSG00000112249		0.393	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	53	0.00	0	A	NM_006828		101075523	101075523	-1	no_errors	ENST00000369162	ensembl	human	known	69_37n	missense	75	12.79	11	SNP	1.000	T
ASH1L	55870	genome.wustl.edu	37	1	155340680	155340680	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:155340680delC	ENST00000368346.3	-	11	7081	c.6442delG	c.(6442-6444)gaafs	p.E2148fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.E2143fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2148	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CGAAATCGTTCTAGACATTGC	0.483																																						dbGAP											0													161.0	160.0	160.0					1																	155340680		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6442delG	1.37:g.155340680delC	ENSP00000357330:p.Glu2148fs		Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.E2148fs	ENST00000368346.3	37	c.6442		1																																																																																			ASH1L	-	smart_SET_dom,pfscan_SET_dom	ENSG00000116539		0.483	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	82	0.00	0	C	NM_018489		155340680	155340680	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	frame_shift_del	151	24.30	52	DEL	1.000	-
ASXL3	80816	genome.wustl.edu	37	18	31326469	31326469	+	Silent	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr18:31326469C>T	ENST00000269197.5	+	12	6657	c.6657C>T	c.(6655-6657)gcC>gcT	p.A2219A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGCTGAAAGCCATGATTGTGT	0.507																																						dbGAP											0													97.0	98.0	98.0					18																	31326469		2004	4181	6185	-	-	-	SO:0001819	synonymous_variant	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6657C>T	18.37:g.31326469C>T			Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	superfamily_Znf_FYVE_PHD	p.A2219	ENST00000269197.5	37	c.6657	CCDS45847.1	18																																																																																			ASXL3	-	superfamily_Znf_FYVE_PHD	ENSG00000141431		0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	45	0.00	0	C			31326469	31326469	+1	no_errors	ENST00000269197	ensembl	human	known	69_37n	silent	101	14.41	17	SNP	1.000	T
ATP9B	374868	genome.wustl.edu	37	18	76974004	76974004	+	Missense_Mutation	SNP	G	G	A	rs200396916		TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr18:76974004G>A	ENST00000426216.2	+	11	1090	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	ATP9B_ENST00000307671.7_Missense_Mutation_p.R358Q	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	358					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AAAGAGACTCGAAGTGTAATG	0.343																																						dbGAP											0													131.0	127.0	128.0					18																	76974004		2203	4300	6503	-	-	-	SO:0001583	missense	0			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1073G>A	18.37:g.76974004G>A	ENSP00000398076:p.Arg358Gln		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R358Q	ENST00000426216.2	37	c.1073	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.415742	0.96092	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.90563	-2.69;-2.69	6.07	6.07	0.98685	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.97028	0.9748	10	0.87932	D	0	.	20.2629	0.98456	0.0:0.0:1.0:0.0	.	358;358	O43861;O43861-2	ATP9B_HUMAN;.	Q	358	ENSP00000398076:R358Q;ENSP00000304500:R358Q	ENSP00000304500:R358Q	R	+	2	0	ATP9B	75074992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.266000	0.89871	2.890000	0.99128	0.585000	0.79938	CGA	ATP9B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000166377		0.343	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3	111	0.00	0	G	NM_198531		76974004	76974004	+1	no_errors	ENST00000426216	ensembl	human	known	69_37n	missense	219	11.34	28	SNP	1.000	A
BAZ2A	11176	genome.wustl.edu	37	12	57007800	57007800	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:57007800G>T	ENST00000551812.1	-	4	1052	c.859C>A	c.(859-861)Caa>Aaa	p.Q287K	BAZ2A_ENST00000179765.5_Missense_Mutation_p.Q255K|BAZ2A_ENST00000549884.1_Missense_Mutation_p.Q285K|BAZ2A_ENST00000379441.3_Missense_Mutation_p.Q257K	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	287					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTTCCAGTTGATCAGGAAGA	0.502																																						dbGAP											0													78.0	77.0	77.0					12																	57007800		1957	4144	6101	-	-	-	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.859C>A	12.37:g.57007800G>T	ENSP00000446880:p.Gln287Lys		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.Q287K	ENST00000551812.1	37	c.859	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377526	0.82682	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.68181	-0.24;-0.24;-0.31;-0.31	5.01	5.01	0.66863	.	0.067482	0.64402	D	0.000014	T	0.71143	0.3305	N	0.24115	0.695	0.35722	D	0.817208	P;P	0.52577	0.954;0.924	D;P	0.67900	0.954;0.9	T	0.78206	-0.2294	10	0.66056	D	0.02	.	16.2201	0.82254	0.0:0.0:1.0:0.0	.	285;287	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	K	257;255;287;285	ENSP00000368754:Q257K;ENSP00000179765:Q255K;ENSP00000446880:Q287K;ENSP00000447941:Q285K	ENSP00000179765:Q255K	Q	-	1	0	BAZ2A	55294067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.757000	0.68766	2.771000	0.95319	0.563000	0.77884	CAA	BAZ2A	-	NULL	ENSG00000076108		0.502	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	30	0.00	0	G	NM_013449		57007800	57007800	-1	no_errors	ENST00000551812	ensembl	human	known	69_37n	missense	52	39.53	34	SNP	1.000	T
BRD7	29117	genome.wustl.edu	37	16	50353829	50353829	+	Silent	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr16:50353829G>T	ENST00000394688.3	-	16	2028	c.1869C>A	c.(1867-1869)gtC>gtA	p.V623V	BRD7_ENST00000394689.2_Silent_p.V624V			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	623					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)				TGTTTTCCATGACGGGGGAAG	0.453																																						dbGAP											0													101.0	90.0	94.0					16																	50353829		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			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.1869C>A	16.37:g.50353829G>T			Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Silent	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V624	ENST00000394688.3	37	c.1872	CCDS10742.1	16																																																																																			BRD7	-	NULL	ENSG00000166164		0.453	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3	49	0.00	0	G	NM_013263		50353829	50353829	-1	no_errors	ENST00000394689	ensembl	human	known	69_37n	silent	88	31.78	41	SNP	0.000	T
VWA9	81556	genome.wustl.edu	37	15	65871806	65871806	+	Silent	SNP	A	A	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr15:65871806A>G	ENST00000395644.4	-	12	1832	c.1497T>C	c.(1495-1497)taT>taC	p.Y499Y	VWA9_ENST00000431261.2_Silent_p.Y420Y|VWA9_ENST00000313182.2_Silent_p.Y499Y|VWA9_ENST00000420799.2_Silent_p.Y442Y|VWA9_ENST00000567744.1_Silent_p.Y535Y|VWA9_ENST00000442903.3_Silent_p.Y463Y|VWA9_ENST00000569491.1_Silent_p.Y449Y			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	499																	TGTTCTGGTCATAAGCGGCAT	0.512																																						dbGAP											0													114.0	106.0	109.0					15																	65871806		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1497T>C	15.37:g.65871806A>G			B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	NULL	p.Y535	ENST00000395644.4	37	c.1605		15																																																																																			C15orf44	-	NULL	ENSG00000138614		0.512	VWA9-201	KNOWN	basic|appris_principal	protein_coding	C15orf44	HGNC	protein_coding	OTTHUMT00000420604.3	39	0.00	0	A	NM_030800		65871806	65871806	-1	no_errors	ENST00000567744	ensembl	human	known	69_37n	silent	83	15.31	15	SNP	0.552	G
C2CD3	26005	genome.wustl.edu	37	11	73849780	73849780	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr11:73849780T>A	ENST00000334126.7	-	5	1166	c.940A>T	c.(940-942)Aag>Tag	p.K314*	C2CD3_ENST00000539061.1_Nonsense_Mutation_p.K314*|C2CD3_ENST00000313663.7_Nonsense_Mutation_p.K314*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	314					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGAAGATCCTTGGTAGGGAGG	0.418																																						dbGAP											0													121.0	113.0	115.0					11																	73849780		2200	4293	6493	-	-	-	SO:0001587	stop_gained	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.940A>T	11.37:g.73849780T>A	ENSP00000334379:p.Lys314*		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.K314*	ENST00000334126.7	37	c.940		11	.	.	.	.	.	.	.	.	.	.	T	22.2	4.255531	0.80135	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	.	.	.	5.77	5.77	0.91146	.	0.201290	0.44688	D	0.000435	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3968	13.6139	0.62097	0.0:0.0:0.0:1.0	.	.	.	.	X	314	.	ENSP00000289350:K314X	K	-	1	0	C2CD3	73527428	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	4.660000	0.61511	2.204000	0.70986	0.533000	0.62120	AAG	C2CD3	-	NULL	ENSG00000168014		0.418	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		33	0.00	0	T	NM_015531		73849780	73849780	-1	no_errors	ENST00000334126	ensembl	human	known	69_37n	nonsense	28	65.85	54	SNP	1.000	A
C3AR1	719	genome.wustl.edu	37	12	8211623	8211623	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:8211623G>C	ENST00000307637.4	-	2	1362	c.1159C>G	c.(1159-1161)Ctt>Gtt	p.L387V		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	387					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CAGCAGACAAGAAAGACAGCC	0.507																																						dbGAP											0													60.0	55.0	56.0					12																	8211623		2203	4300	6503	-	-	-	SO:0001583	missense	0			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1159C>G	12.37:g.8211623G>C	ENSP00000302079:p.Leu387Val		O43771|Q92868	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_C3A_anaphtx_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Frt_met_rcpt,prints_C5A_anaphtx_rcpt	p.L387V	ENST00000307637.4	37	c.1159	CCDS8588.1	12	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240096	0.39598	.	.	ENSG00000171860	ENST00000307637	T	0.70282	-0.47	5.79	-0.873	0.10635	GPCR, rhodopsin-like superfamily (1);	0.878485	0.09481	N	0.796420	T	0.51432	0.1674	L	0.28776	0.89	0.22954	N	0.998517	P	0.39352	0.669	B	0.34138	0.176	T	0.44283	-0.9338	10	0.66056	D	0.02	.	4.65	0.12591	0.5712:0.0:0.2674:0.1614	.	387	Q16581	C3AR_HUMAN	V	387	ENSP00000302079:L387V	ENSP00000302079:L387V	L	-	1	0	C3AR1	8102890	1.000000	0.71417	0.435000	0.26784	0.703000	0.40648	3.102000	0.50291	-0.049000	0.13379	0.655000	0.94253	CTT	C3AR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000171860		0.507	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	HGNC	protein_coding	OTTHUMT00000400254.1	24	0.00	0	G			8211623	8211623	-1	no_errors	ENST00000307637	ensembl	human	known	69_37n	missense	41	35.94	23	SNP	1.000	C
CCDC174	51244	genome.wustl.edu	37	3	14708374	14708374	+	Missense_Mutation	SNP	G	G	C	rs370223037		TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:14708374G>C	ENST00000383794.3	+	7	717	c.644G>C	c.(643-645)cGc>cCc	p.R215P	CCDC174_ENST00000303688.7_Missense_Mutation_p.R215P	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	215						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAACTTCAGCGCCAGCAATGG	0.413																																						dbGAP											0													93.0	109.0	103.0					3																	14708374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.644G>C	3.37:g.14708374G>C	ENSP00000373304:p.Arg215Pro		Q96CS5	Missense_Mutation	SNP	NULL	p.R215P	ENST00000383794.3	37	c.644	CCDS2620.2	3	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796491	0.90453	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.58358	0.55;0.34	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.76586	0.4008	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80509	-0.1351	10	0.87932	D	0	-11.7363	18.0146	0.89235	0.0:0.0:1.0:0.0	.	215	Q6PII3	CC019_HUMAN	P	215;215;118	ENSP00000373304:R215P;ENSP00000302344:R215P	ENSP00000285042:R118P	R	+	2	0	C3orf19	14683378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.563000	0.90723	2.550000	0.86006	0.591000	0.81541	CGC	C3orf19	-	NULL	ENSG00000154781		0.413	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf19	HGNC	protein_coding	OTTHUMT00000252077.2	44	0.00	0	G	NM_016474		14708374	14708374	+1	no_errors	ENST00000383794	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	1.000	C
TOPAZ1	375337	genome.wustl.edu	37	3	44373333	44373333	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:44373333G>A	ENST00000309765.4	+	20	5077	c.4909G>A	c.(4909-4911)Gaa>Aaa	p.E1637K		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	1637						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										AGCTGCAGTAGAAAGGTTAAT	0.353																																						dbGAP											0													153.0	139.0	143.0					3																	44373333		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.4909G>A	3.37:g.44373333G>A	ENSP00000310303:p.Glu1637Lys			Missense_Mutation	SNP	NULL	p.E1637K	ENST00000309765.4	37	c.4909	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064906	0.55432	.	.	ENSG00000173769	ENST00000309765	T	0.12672	2.66	5.46	2.74	0.32292	.	.	.	.	.	T	0.09686	0.0238	N	0.19112	0.55	0.32701	N	0.512889	B	0.17268	0.021	B	0.19946	0.027	T	0.08371	-1.0725	9	0.56958	D	0.05	-0.8824	9.6238	0.39739	0.279:0.0:0.721:0.0	.	1637	Q8N9V7	CC077_HUMAN	K	1637	ENSP00000310303:E1637K	ENSP00000310303:E1637K	E	+	1	0	C3orf77	44348337	1.000000	0.71417	0.665000	0.29768	0.998000	0.95712	1.794000	0.38774	0.383000	0.24910	0.655000	0.94253	GAA	C3orf77	-	NULL	ENSG00000173769		0.353	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf77	HGNC	protein_coding	OTTHUMT00000343247.1	73	0.00	0	G	NM_001145030		44373333	44373333	+1	no_errors	ENST00000309765	ensembl	human	known	69_37n	missense	89	16.82	18	SNP	0.956	A
C3orf70	285382	genome.wustl.edu	37	3	184801224	184801224	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:184801224A>T	ENST00000335012.2	-	2	514	c.324T>A	c.(322-324)ttT>ttA	p.F108L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	108										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						AGACAGATGCAAATTTCAAAA	0.468																																						dbGAP											0													84.0	86.0	85.0					3																	184801224		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.324T>A	3.37:g.184801224A>T	ENSP00000334974:p.Phe108Leu		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.F108L	ENST00000335012.2	37	c.324	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	A	9.849	1.193235	0.22037	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.61	-2.71	0.05986	.	0.263326	0.37809	N	0.001931	T	0.20455	0.0492	N	0.08118	0	0.34360	D	0.690902	B	0.02656	0.0	B	0.04013	0.001	T	0.12116	-1.0560	9	0.21540	T	0.41	.	8.6655	0.34118	0.3883:0.0:0.497:0.1146	.	108	A6NLC5	CC070_HUMAN	L	108	.	ENSP00000334974:F108L	F	-	3	2	C3orf70	186283918	0.114000	0.22134	0.935000	0.37517	0.928000	0.56348	-0.467000	0.06664	-0.478000	0.06823	0.533000	0.62120	TTT	C3orf70	-	NULL	ENSG00000187068		0.468	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	26	0.00	0	A	NM_001025266		184801224	184801224	-1	no_errors	ENST00000335012	ensembl	human	known	69_37n	missense	41	29.31	17	SNP	0.842	T
C5	727	genome.wustl.edu	37	9	123731362	123731362	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr9:123731362G>A	ENST00000223642.1	-	33	4226	c.4197C>T	c.(4195-4197)taC>taT	p.Y1399Y		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1399					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CTATGCGTTTGTAATCAGAGT	0.388																																						dbGAP											0													143.0	132.0	136.0					9																	123731362		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4197C>T	9.37:g.123731362G>A			Q14CJ0|Q27I61	Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.Y1399	ENST00000223642.1	37	c.4197	CCDS6826.1	9																																																																																			C5	-	superfamily_A-macroglobulin_rcpt-bd	ENSG00000106804		0.388	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	66	0.00	0	G	NM_001735		123731362	123731362	-1	no_errors	ENST00000223642	ensembl	human	known	69_37n	silent	100	15.97	19	SNP	0.786	A
C7	730	genome.wustl.edu	37	5	40972659	40972659	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr5:40972659G>C	ENST00000313164.9	+	15	2396	c.2037G>C	c.(2035-2037)tgG>tgC	p.W679C	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	679	CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GCCTTAAGTGGAGTCCTGAGA	0.498																																						dbGAP											0													181.0	175.0	177.0					5																	40972659		2026	4204	6230	-	-	-	SO:0001583	missense	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2037G>C	5.37:g.40972659G>C	ENSP00000322061:p.Trp679Cys		Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.W679C	ENST00000313164.9	37	c.2037	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194777	0.78902	.	.	ENSG00000112936	ENST00000313164	D	0.92805	-3.11	5.93	5.93	0.95920	Complement control module (2);Sushi/SCR/CCP (3);	0.134449	0.53938	D	0.000046	D	0.97040	0.9033	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97168	0.9842	10	0.87932	D	0	-18.6242	19.9446	0.97177	0.0:0.0:1.0:0.0	.	679	P10643	CO7_HUMAN	C	679	ENSP00000322061:W679C	ENSP00000322061:W679C	W	+	3	0	C7	41008416	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.591000	0.74090	2.814000	0.96858	0.591000	0.81541	TGG	C7	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000112936		0.498	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	55	0.00	0	G			40972659	40972659	+1	no_errors	ENST00000313164	ensembl	human	known	69_37n	missense	108	38.64	68	SNP	1.000	C
CA14	23632	genome.wustl.edu	37	1	150234993	150234993	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:150234993C>A	ENST00000369111.4	+	5	1439	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	157					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	GCCTCAGGGCCTGGCTGTCCT	0.512																																						dbGAP											0													113.0	110.0	111.0					1																	150234993		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.469C>A	1.37:g.150234993C>A	ENSP00000358107:p.Leu157Met		Q5TB24|Q8NCF4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.L157M	ENST00000369111.4	37	c.469	CCDS947.1	1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799732	0.70567	.	.	ENSG00000118298	ENST00000369111	T	0.74526	-0.85	5.95	4.09	0.47781	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000001	D	0.85173	0.5636	M	0.92970	3.365	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	D	0.87710	0.2566	10	0.87932	D	0	.	10.9564	0.47360	0.0:0.8479:0.0:0.1521	.	157	Q9ULX7	CAH14_HUMAN	M	157	ENSP00000358107:L157M	ENSP00000358107:L157M	L	+	1	2	CA14	148501617	0.693000	0.27728	1.000000	0.80357	0.944000	0.59088	1.369000	0.34227	0.862000	0.35528	-0.253000	0.11424	CTG	CA14	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000118298		0.512	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2	53	0.00	0	C	NM_012113		150234993	150234993	+1	no_errors	ENST00000369111	ensembl	human	known	69_37n	missense	84	45.81	71	SNP	1.000	A
OSBPL1A	114876	genome.wustl.edu	37	18	21739933	21739933	+	IGR	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr18:21739933G>T	ENST00000319481.3	-	0	4195				CABYR_ENST00000399499.1_Nonsense_Mutation_p.G347*|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000327201.6_Nonsense_Mutation_p.G249*|CABYR_ENST00000581397.1_Nonsense_Mutation_p.G347*|CABYR_ENST00000415309.2_Nonsense_Mutation_p.G189*|CABYR_ENST00000399496.3_Nonsense_Mutation_p.G347*	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AAAAAGTTCAGGATCTGGTGA	0.458																																						dbGAP											0													155.0	153.0	154.0					18																	21739933		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21739933G>T			B7Z7D3|Q9BZF5|Q9NW87	Nonsense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b	p.G347*	ENST00000319481.3	37	c.1039	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	G	31	5.097339	0.94197	.	.	ENSG00000154040	ENST00000399496;ENST00000415309;ENST00000327201;ENST00000399499	.	.	.	5.51	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5568	0.50752	0.0846:0.0:0.9154:0.0	.	.	.	.	X	347;189;249;347	.	ENSP00000317095:G249X	G	+	1	0	CABYR	19993931	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.850000	0.55918	1.328000	0.45358	0.563000	0.77884	GGA	CABYR	-	NULL	ENSG00000154040		0.458	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABYR	HGNC	protein_coding	OTTHUMT00000254902.1	56	0.00	0	G	NM_080597		21739933	21739933	+1	no_errors	ENST00000399496	ensembl	human	known	69_37n	nonsense	120	17.24	25	SNP	1.000	T
CCDC125	202243	genome.wustl.edu	37	5	68616155	68616155	+	Silent	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr5:68616155T>C	ENST00000396496.2	-	2	320	c.213A>G	c.(211-213)gaA>gaG	p.E71E	CCDC125_ENST00000396499.1_Silent_p.E71E|CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000383374.2_Silent_p.E71E|CCDC125_ENST00000460090.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	71						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		GAAAACTCGCTTCATTTCTTT	0.388																																						dbGAP											0													189.0	183.0	185.0					5																	68616155		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.213A>G	5.37:g.68616155T>C			Q86Z19	Silent	SNP	NULL	p.E71	ENST00000396496.2	37	c.213	CCDS4000.1	5																																																																																			CCDC125	-	NULL	ENSG00000183323		0.388	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	HGNC	protein_coding	OTTHUMT00000254027.4	61	0.00	0	T	NM_176816		68616155	68616155	-1	no_errors	ENST00000396496	ensembl	human	known	69_37n	silent	67	37.38	40	SNP	0.000	C
CD63	967	genome.wustl.edu	37	12	56119345	56119345	+	Silent	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:56119345C>T	ENST00000549117.1	-	8	1153	c.717G>A	c.(715-717)taG>taA	p.*239*	CD63_ENST00000550776.1_Silent_p.*157*|CD63_ENST00000552754.1_Silent_p.*216*|CD63_ENST00000548160.1_Silent_p.*146*|CD63_ENST00000420846.3_Silent_p.*237*|CD63_ENST00000548898.1_Silent_p.*146*|CD63_ENST00000552692.1_Silent_p.*239*|CD63_ENST00000546939.1_Silent_p.*157*|CD63_ENST00000257857.4_Silent_p.*239*|CD63_ENST00000552067.1_Silent_p.*146*	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	0					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GACCAGACCCCTACATCACCT	0.488																																					Pancreas(123;1459 1747 6717 18841 37380)	dbGAP											0													97.0	91.0	93.0					12																	56119345		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.717G>A	12.37:g.56119345C>T			F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.*239	ENST00000549117.1	37	c.717	CCDS8890.1	12																																																																																			CD63	-	NULL	ENSG00000135404		0.488	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD63	HGNC	protein_coding	OTTHUMT00000409234.1	32	0.00	0	C			56119345	56119345	-1	no_errors	ENST00000257857	ensembl	human	known	69_37n	silent	39	18.75	9	SNP	0.963	T
CD93	22918	genome.wustl.edu	37	20	23065764	23065764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr20:23065764G>A	ENST00000246006.4	-	1	1213	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	356	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACACACTCCTGGGCACAGGGG	0.627																																						dbGAP											0													33.0	36.0	35.0					20																	23065764		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1066C>T	20.37:g.23065764G>A	ENSP00000246006:p.Gln356*		O00274	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_EG-like_dom,pfscan_C-type_lectin	p.Q356*	ENST00000246006.4	37	c.1066	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.755293	0.96898	.	.	ENSG00000125810	ENST00000246006	.	.	.	4.89	4.89	0.63831	.	0.104857	0.42821	D	0.000656	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-33.5371	17.5755	0.87947	0.0:0.0:1.0:0.0	.	.	.	.	X	356	.	ENSP00000246006:Q356X	Q	-	1	0	CD93	23013764	1.000000	0.71417	0.953000	0.39169	0.201000	0.24016	6.997000	0.76270	2.696000	0.92011	0.650000	0.86243	CAG	CD93	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_CD93/CD141,pfscan_EG-like_dom	ENSG00000125810		0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	14	0.00	0	G	NM_012072		23065764	23065764	-1	no_errors	ENST00000246006	ensembl	human	known	69_37n	nonsense	16	32.00	8	SNP	1.000	A
CDC42EP2	10435	genome.wustl.edu	37	11	65088527	65088527	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr11:65088527G>C	ENST00000544348.1	+	2	764	c.158G>C	c.(157-159)gGc>gCc	p.G53A	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.G53A|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.G53A			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	53					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						GACATGTTTGGCGACATCTCC	0.612																																						dbGAP											0													73.0	71.0	71.0					11																	65088527		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.158G>C	11.37:g.65088527G>C	ENSP00000442534:p.Gly53Ala		B2RD85|Q9UNS0	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pirsf_Cdc42_effector_prot_2,pfscan_PAK_box_Rho-bd	p.G53A	ENST00000544348.1	37	c.158	CCDS8099.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139748	0.77775	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	D;D;D	0.85861	-2.04;-2.04;-2.04	5.23	5.23	0.72850	PAK-box/P21-Rho-binding (2);	0.000000	0.64402	D	0.000001	D	0.92371	0.7579	M	0.80332	2.49	0.53688	D	0.999979	D	0.89917	1.0	D	0.81914	0.995	D	0.93053	0.6467	10	0.87932	D	0	-21.4644	16.3336	0.83051	0.0:0.0:1.0:0.0	.	53	O14613	BORG1_HUMAN	A	53	ENSP00000279249:G53A;ENSP00000431660:G53A;ENSP00000442534:G53A	ENSP00000279249:G53A	G	+	2	0	CDC42EP2	64845103	1.000000	0.71417	0.977000	0.42913	0.875000	0.50365	7.600000	0.82769	2.720000	0.93068	0.591000	0.81541	GGC	CDC42EP2	-	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pirsf_Cdc42_effector_prot_2	ENSG00000149798		0.612	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP2	HGNC	protein_coding	OTTHUMT00000387258.1	25	0.00	0	G	NM_006779		65088527	65088527	+1	no_errors	ENST00000279249	ensembl	human	known	69_37n	missense	11	60.71	17	SNP	0.996	C
CHD5	26038	genome.wustl.edu	37	1	6169975	6169975	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:6169975G>A	ENST00000262450.3	-	38	5557	c.5458C>T	c.(5458-5460)Cac>Tac	p.H1820Y	CHD5_ENST00000378021.1_Missense_Mutation_p.H677Y	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATGGCGGGGTGGTTGGGGTCC	0.687																																						dbGAP											0													49.0	54.0	52.0					1																	6169975		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5458C>T	1.37:g.6169975G>A	ENSP00000262450:p.His1820Tyr		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.H1820Y	ENST00000262450.3	37	c.5458	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	g	36	5.598090	0.96614	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.91686	-2.89;2.11	4.65	4.65	0.58169	CHD, C-terminal 2 (1);	0.000000	0.85682	D	0.000000	D	0.95310	0.8478	L	0.61036	1.89	0.58432	D	0.999999	P;D	0.62365	0.842;0.991	P;D	0.76575	0.626;0.988	D	0.95920	0.8930	10	0.87932	D	0	-37.5765	17.8789	0.88834	0.0:0.0:1.0:0.0	.	1820;677	Q8TDI0;Q5TG85	CHD5_HUMAN;.	Y	1820;677;677	ENSP00000262450:H1820Y;ENSP00000367260:H677Y	ENSP00000262450:H1820Y	H	-	1	0	CHD5	6092562	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.687000	0.98667	2.276000	0.75962	0.511000	0.50034	CAC	CHD5	-	pfam_CHD_C2	ENSG00000116254		0.687	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	32	0.00	0	G	NM_015557		6169975	6169975	-1	no_errors	ENST00000262450	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	1.000	A
CHD5	26038	genome.wustl.edu	37	1	6194863	6194863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:6194863delC	ENST00000262450.3	-	19	3026	c.2927delG	c.(2926-2928)ggcfs	p.G977fs	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGGTTCCCGCCCCCCTTGGA	0.577																																						dbGAP											0													266.0	266.0	266.0					1																	6194863		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2927delG	1.37:g.6194863delC	ENSP00000262450:p.Gly977fs		A8KAP8|A8MQ44|D3DSH9|O60740	Frame_Shift_Del	DEL	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G976fs	ENST00000262450.3	37	c.2927	CCDS57.1	1																																																																																			CHD5	-	pfam_SNF2_N	ENSG00000116254		0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	96	0.00	0	C	NM_015557		6194863	6194863	-1	no_errors	ENST00000262450	ensembl	human	known	69_37n	frame_shift_del	152	36.36	92	DEL	1.000	-
CEP85	64793	genome.wustl.edu	37	1	26595997	26595997	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:26595997C>G	ENST00000252992.4	+	9	1672	c.1541C>G	c.(1540-1542)aCt>aGt	p.T514S	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.T463S	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	514						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GAGAAAGTGACTGAGCTGGAG	0.478																																						dbGAP											0													73.0	72.0	72.0					1																	26595997		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1541C>G	1.37:g.26595997C>G	ENSP00000252992:p.Thr514Ser		B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	NULL	p.T514S	ENST00000252992.4	37	c.1541	CCDS277.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.461|1.461	-0.562377|-0.562377	0.03939|0.03939	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000453146|ENST00000451429;ENST00000252992	.|T;T	.|0.11712	.|2.75;2.75	5.06|5.06	3.15|3.15	0.36227|0.36227	.|.	.|0.733633	.|0.13679	.|N	.|0.370306	T|T	0.04543|0.04543	0.0124|0.0124	N|N	0.04203|0.04203	-0.255|-0.255	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.17268	.|0.009;0.011;0.021	.|B;B;B	.|0.12837	.|0.008;0.007;0.007	T|T	0.43228|0.43228	-0.9404|-0.9404	5|10	.|0.08599	.|T	.|0.76	-4.3798|-4.3798	9.6704|9.6704	0.40008|0.40008	0.0:0.5167:0.4082:0.0751|0.0:0.5167:0.4082:0.0751	.|.	.|463;514;514	.|F8W7K4;Q6P2H3;Q6P2H3-2	.|.;CEP85_HUMAN;.	V|S	188|463;514	.|ENSP00000417002:T463S;ENSP00000252992:T514S	.|ENSP00000252992:T514S	L|T	+|+	1|2	2|0	CEP85|CEP85	26468584|26468584	0.002000|0.002000	0.14202|0.14202	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	0.385000|0.385000	0.20685|0.20685	0.690000|0.690000	0.31570|0.31570	0.561000|0.561000	0.74099|0.74099	CTG|ACT	CEP85	-	NULL	ENSG00000130695		0.478	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2	40	0.00	0	C	NM_022778		26595997	26595997	+1	no_errors	ENST00000252992	ensembl	human	known	69_37n	missense	68	11.69	9	SNP	0.517	G
CHIC2	26511	genome.wustl.edu	37	4	54930430	54930430	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr4:54930430T>G	ENST00000263921.3	-	1	427	c.38A>C	c.(37-39)gAc>gCc	p.D13A	CHIC2_ENST00000512964.1_Missense_Mutation_p.D13A|FIP1L1_ENST00000507166.1_Intron	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	13	Poly-Glu.					Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CCGCTCCTCGTCCTCCTCTTC	0.682			T	ETV6	AML																																	dbGAP		Dom	yes		4	4q11-q12	26511	cysteine-rich hydrophobic domain 2		L	0													34.0	34.0	34.0					4																	54930430		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF159423	CCDS3493.1	4q12	2013-09-04			ENSG00000109220	ENSG00000109220			1935	protein-coding gene	gene with protein product		604332				10477709	Standard	NM_012110		Approved	BTL	uc003haj.2	Q9UKJ5	OTTHUMG00000102101	ENST00000263921.3:c.38A>C	4.37:g.54930430T>G	ENSP00000263921:p.Asp13Ala		B2R639	Missense_Mutation	SNP	pfam_Golgin_A_7/ERF4	p.D13A	ENST00000263921.3	37	c.38	CCDS3493.1	4	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478301	0.44044	.	.	ENSG00000109220	ENST00000263921;ENST00000512964	.	.	.	4.27	4.27	0.50696	.	0.186088	0.48767	D	0.000173	T	0.49745	0.1575	N	0.08118	0	0.80722	D	1	D	0.57571	0.98	D	0.70227	0.968	T	0.50268	-0.8848	9	0.25106	T	0.35	.	13.3435	0.60559	0.0:0.0:0.0:1.0	.	13	Q9UKJ5	CHIC2_HUMAN	A	13	.	ENSP00000263921:D13A	D	-	2	0	CHIC2	54625187	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.046000	0.64226	1.669000	0.50854	0.379000	0.24179	GAC	CHIC2	-	NULL	ENSG00000109220		0.682	CHIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIC2	HGNC	protein_coding	OTTHUMT00000219937.2	27	0.00	0	T			54930430	54930430	-1	no_errors	ENST00000263921	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	G
CHODL	140578	genome.wustl.edu	37	21	19635193	19635193	+	Silent	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr21:19635193C>T	ENST00000299295.2	+	5	1111	c.720C>T	c.(718-720)ttC>ttT	p.F240F	CHODL_ENST00000543733.1_Silent_p.F221F|CHODL_ENST00000400131.1_Intron|CHODL_ENST00000400135.1_Intron|CHODL_ENST00000338326.3_Intron|CHODL_ENST00000400128.1_Silent_p.F199F|CHODL_ENST00000400127.1_Silent_p.F199F	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	240					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CCTGTTGTTTCCAGATGCTGC	0.294																																						dbGAP											0													117.0	115.0	116.0					21																	19635193		2202	4295	6497	-	-	-	SO:0001819	synonymous_variant	0			AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.720C>T	21.37:g.19635193C>T			B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.F240	ENST00000299295.2	37	c.720	CCDS13570.1	21																																																																																			CHODL	-	NULL	ENSG00000154645		0.294	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHODL	HGNC	protein_coding	OTTHUMT00000158232.1	81	0.00	0	C	NM_024944		19635193	19635193	+1	no_errors	ENST00000299295	ensembl	human	known	69_37n	silent	129	15.69	24	SNP	1.000	T
CLIP1	6249	genome.wustl.edu	37	12	122794401	122794402	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:122794401_122794402delTC	ENST00000540338.1	-	19	3542_3543	c.3501_3502delGA	c.(3499-3504)cagaagfs	p.K1168fs	CLIP1_ENST00000302528.7_Frame_Shift_Del_p.K1157fs|CLIP1_ENST00000545889.1_Frame_Shift_Del_p.K743fs|CLIP1_ENST00000358808.2_Frame_Shift_Del_p.K1157fs|CLIP1_ENST00000361654.4_Frame_Shift_Del_p.K1046fs|CLIP1_ENST00000537178.1_Frame_Shift_Del_p.K1122fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1168					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGCTGGGACTTCTGAGCTGCTG	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3501_3502delGA	12.37:g.122794401_122794402delTC	ENSP00000439093:p.Lys1168fs		A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Del	DEL	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.K1168fs	ENST00000540338.1	37	c.3502_3501	CCDS58285.1	12																																																																																			CLIP1	-	NULL	ENSG00000130779		0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	37	0.00	0	TC	NM_002956		122794401	122794402	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	frame_shift_del	75	21.43	21	DEL	1.000:1.000	-
CLNS1A	1207	genome.wustl.edu	37	11	77333553	77333554	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr11:77333553_77333554delTC	ENST00000525428.1	-	5	727_728	c.637_638delGA	c.(637-639)gatfs	p.D213fs	CLNS1A_ENST00000525064.1_Intron|CLNS1A_ENST00000532069.1_Frame_Shift_Del_p.D143fs|CLNS1A_ENST00000528364.1_Frame_Shift_Del_p.D213fs|CLNS1A_ENST00000263309.3_Frame_Shift_Del_p.D179fs	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	213					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			ACCTTCATAATCTCTTATTGAA	0.411																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.637_638delGA	11.37:g.77333555_77333556delTC	ENSP00000433919:p.Asp213fs		B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	Frame_Shift_Del	DEL	prints_ICln_channel	p.D213fs	ENST00000525428.1	37	c.638_637	CCDS8252.1	11																																																																																			CLNS1A	-	NULL	ENSG00000074201		0.411	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNS1A	HGNC	protein_coding	OTTHUMT00000382156.2	68	0.00	0	TC	NM_001293		77333553	77333554	-1	no_errors	ENST00000525428	ensembl	human	known	69_37n	frame_shift_del	107	12.90	16	DEL	1.000:0.998	-
CSAD	51380	genome.wustl.edu	37	12	53567239	53567239	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:53567239C>A	ENST00000444623.1	-	4	283	c.16G>T	c.(16-18)Gca>Tca	p.A6S	CSAD_ENST00000379843.3_Missense_Mutation_p.A6S|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000453446.2_Missense_Mutation_p.A6S|CSAD_ENST00000267085.4_Missense_Mutation_p.A33S|CSAD_ENST00000542115.1_Missense_Mutation_p.A6S|CSAD_ENST00000379846.1_Missense_Mutation_p.A6S	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	6					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	GAGGGGAGTGCTTCTGAGTCA	0.587																																					Ovarian(109;252 1546 16882 28524 44645)	dbGAP											0													81.0	74.0	76.0					12																	53567239		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.16G>T	12.37:g.53567239C>A	ENSP00000415485:p.Ala6Ser		A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.A33S	ENST00000444623.1	37	c.97	CCDS58235.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.514|9.514	1.106643|1.106643	0.20714|0.20714	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000544139;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000548698;ENST00000542115;ENST00000437073;ENST00000424990|ENST00000379850	T;T;T;T;T;T;T;T;T|.	0.26660|.	2.38;2.85;2.38;2.88;2.88;1.72;2.28;2.29;2.29|.	5.08|5.08	2.21|2.21	0.28008|0.28008	.|.	0.556344|.	0.19146|.	N|.	0.121572|.	T|T	0.15262|0.15262	0.0368|0.0368	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.28820|.	0.224;0.052;0.102;0.011|.	B;B;B;B|.	0.23574|.	0.021;0.047;0.021;0.009|.	T|T	0.28138|0.28138	-1.0053|-1.0053	10|5	0.45353|.	T|.	0.12|.	-1.1064|-1.1064	8.6264|8.6264	0.33892|0.33892	0.0856:0.4771:0.4372:0.0|0.0856:0.4771:0.4372:0.0	.|.	6;33;6;6|.	B4DL84;Q9Y600-3;Q9Y600;Q9Y600-2|.	.;.;CSAD_HUMAN;.|.	S|I	95;6;33;6;6;6;6;6;6;6;6;6|31	ENSP00000369172:A6S;ENSP00000267085:A33S;ENSP00000369175:A6S;ENSP00000415485:A6S;ENSP00000410648:A6S;ENSP00000449373:A6S;ENSP00000439419:A6S;ENSP00000415314:A6S;ENSP00000401078:A6S|.	ENSP00000267085:A33S|.	A|S	-|-	1|2	0|0	CSAD|CSAD	51853506|51853506	0.158000|0.158000	0.22850|0.22850	0.020000|0.020000	0.16555|0.16555	0.394000|0.394000	0.30568|0.30568	0.684000|0.684000	0.25364|0.25364	0.400000|0.400000	0.25396|0.25396	-0.165000|-0.165000	0.13383|0.13383	GCA|AGC	CSAD	-	NULL	ENSG00000139631		0.587	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	CSAD	HGNC	protein_coding	OTTHUMT00000343697.1	22	0.00	0	C	NM_015989		53567239	53567239	-1	no_errors	ENST00000267085	ensembl	human	known	69_37n	missense	78	13.33	12	SNP	0.019	A
CSMD1	64478	genome.wustl.edu	37	8	3265702	3265702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr8:3265702G>T	ENST00000520002.1	-	15	2348	c.1793C>A	c.(1792-1794)tCa>tAa	p.S598*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S598*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S598*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.S597*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S597*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S597*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S598*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	598	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATAATTTGGTGACAGAATAAT	0.363																																						dbGAP											0													31.0	27.0	28.0					8																	3265702		1867	4120	5987	-	-	-	SO:0001587	stop_gained	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1793C>A	8.37:g.3265702G>T	ENSP00000430733:p.Ser598*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S598*	ENST00000520002.1	37	c.1793		8	.	.	.	.	.	.	.	.	.	.	G	44	11.053550	0.99509	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7996	0.92010	0.0:0.0:1.0:0.0	.	.	.	.	X	598;598;460;597;597;597	.	ENSP00000320445:S460X	S	-	2	0	CSMD1	3253109	1.000000	0.71417	0.078000	0.20375	0.967000	0.64934	9.602000	0.98312	2.437000	0.82529	0.467000	0.42956	TCA	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000183117		0.363	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	12	0.00	0	G	NM_033225		3265702	3265702	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	nonsense	15	31.82	7	SNP	0.999	T
CTNNA2	1496	genome.wustl.edu	37	2	80773099	80773099	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:80773099T>C	ENST00000402739.4	+	10	1456	c.1451T>C	c.(1450-1452)gTc>gCc	p.V484A	CTNNA2_ENST00000466387.1_Missense_Mutation_p.V484A|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V484A|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V163A|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V484A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V518A|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V484A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	484					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AACATGGACGTCTTCAAAGAC	0.512																																						dbGAP											0													65.0	74.0	72.0					2																	80773099		2062	4216	6278	-	-	-	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1451T>C	2.37:g.80773099T>C	ENSP00000384638:p.Val484Ala		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.V518A	ENST00000402739.4	37	c.1553		2	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019312	0.35606	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	N	0.16098	0.37	0.58432	D	0.999993	B;B;B;B	0.10296	0.0;0.003;0.002;0.001	B;B;B;B	0.17098	0.001;0.017;0.011;0.004	T	0.08493	-1.0719	9	.	.	.	.	16.3196	0.82941	0.0:0.0:0.0:1.0	.	116;484;484;484	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	A	484;484;518;484;484;484;163;149	ENSP00000418191:V484A;ENSP00000419295:V484A;ENSP00000355398:V518A;ENSP00000384638:V484A;ENSP00000444675:V484A;ENSP00000441705:V484A;ENSP00000341500:V163A;ENSP00000386587:V149A	.	V	+	2	0	CTNNA2	80626610	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.997000	0.88414	2.248000	0.74166	0.459000	0.35465	GTC	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	54	0.00	0	T	NM_004389		80773099	80773099	+1	no_errors	ENST00000361291	ensembl	human	known	69_37n	missense	85	14.14	14	SNP	1.000	C
CSRNP3	80034	genome.wustl.edu	37	2	166451648	166451648	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:166451648G>C	ENST00000342316.4	+	2	345	c.73G>C	c.(73-75)Gat>Cat	p.D25H	CSRNP3_ENST00000314499.7_Missense_Mutation_p.D25H|CSRNP3_ENST00000409420.1_Missense_Mutation_p.D57H	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	25	Ser-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GAGGGAATCAGATGATGAAGT	0.468																																						dbGAP											0													135.0	122.0	126.0					2																	166451648		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.73G>C	2.37:g.166451648G>C	ENSP00000344042:p.Asp25His		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.D25H	ENST00000342316.4	37	c.73	CCDS2225.1	2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832482	0.91036	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.38845	-0.9642	10	0.72032	D	0.01	-27.5235	20.3206	0.98668	0.0:0.0:1.0:0.0	.	25	Q8WYN3	CSRN3_HUMAN	H	25;32;25;25;25;57	ENSP00000412081:D25H;ENSP00000318258:D25H;ENSP00000386278:D25H;ENSP00000344042:D25H;ENSP00000387195:D57H	ENSP00000318258:D25H	D	+	1	0	CSRNP3	166159894	1.000000	0.71417	0.973000	0.42090	0.935000	0.57460	9.624000	0.98398	2.809000	0.96659	0.655000	0.94253	GAT	CSRNP3	-	NULL	ENSG00000178662		0.468	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	HGNC	protein_coding	OTTHUMT00000255191.2	53	0.00	0	G	NM_024969		166451648	166451648	+1	no_errors	ENST00000314499	ensembl	human	known	69_37n	missense	113	13.74	18	SNP	1.000	C
CUBN	8029	genome.wustl.edu	37	10	16979758	16979758	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr10:16979758G>A	ENST00000377833.4	-	39	5824	c.5759C>T	c.(5758-5760)gCc>gTc	p.A1920V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1920	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATTAGGCGGGCGTGAATGCT	0.358																																						dbGAP											0													58.0	62.0	61.0					10																	16979758		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5759C>T	10.37:g.16979758G>A	ENSP00000367064:p.Ala1920Val		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.A1920V	ENST00000377833.4	37	c.5759	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115295	0.37339	.	.	ENSG00000107611	ENST00000377833	T	0.36520	1.25	5.14	5.14	0.70334	CUB (5);	0.200314	0.24915	N	0.034584	T	0.36496	0.0969	L	0.50919	1.6	0.80722	D	1	P	0.40731	0.728	B	0.40444	0.329	T	0.26189	-1.0110	10	0.62326	D	0.03	.	13.8734	0.63634	0.0:0.0:0.8473:0.1526	.	1920	O60494	CUBN_HUMAN	V	1920	ENSP00000367064:A1920V	ENSP00000367064:A1920V	A	-	2	0	CUBN	17019764	0.998000	0.40836	0.513000	0.27749	0.198000	0.23893	1.651000	0.37302	2.531000	0.85337	0.591000	0.81541	GCC	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.358	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	26	0.00	0	G	NM_001081		16979758	16979758	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	missense	63	28.41	25	SNP	0.935	A
CYP8B1	1582	genome.wustl.edu	37	3	42916128	42916128	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:42916128G>A	ENST00000316161.4	-	1	1505	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.P394L|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	394					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTGGATGTCAGGGTCCATGTG	0.537																																						dbGAP											0													127.0	124.0	125.0					3																	42916128		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1181C>T	3.37:g.42916128G>A	ENSP00000318867:p.Pro394Leu		B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.P394L	ENST00000316161.4	37	c.1181	CCDS2707.1	3	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814230	0.90790	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01947	4.54;4.54	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000004	T	0.17959	0.0431	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00862	-1.1536	10	0.87932	D	0	-11.9199	17.9417	0.89027	0.0:0.0:1.0:0.0	.	394;394	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	L	394	ENSP00000404499:P394L;ENSP00000318867:P394L	ENSP00000318867:P394L	P	-	2	0	CYP8B1	42891132	1.000000	0.71417	0.981000	0.43875	0.903000	0.53119	7.755000	0.85180	2.523000	0.85059	0.561000	0.74099	CCT	CYP8B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	ENSG00000180432		0.537	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP8B1	HGNC	protein_coding	OTTHUMT00000256653.1	19	0.00	0	G	NM_004391		42916128	42916128	-1	no_errors	ENST00000316161	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	1.000	A
DAAM1	23002	genome.wustl.edu	37	14	59789814	59789814	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr14:59789814G>C	ENST00000395125.1	+	5	668	c.645G>C	c.(643-645)gaG>gaC	p.E215D	DAAM1_ENST00000360909.3_Missense_Mutation_p.E215D|DAAM1_ENST00000351081.1_Missense_Mutation_p.E215D	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	215	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGAGCACAGAGAACATTAAAA	0.522																																						dbGAP											0													42.0	41.0	41.0					14																	59789814		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.645G>C	14.37:g.59789814G>C	ENSP00000378557:p.Glu215Asp		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.E215D	ENST00000395125.1	37	c.645	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673325	0.47781	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.86769	-2.17;-2.17;-2.17	6.16	3.36	0.38483	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.042778	0.85682	D	0.000000	D	0.89245	0.6660	L	0.45581	1.43	0.53688	D	0.999974	D;D	0.63046	0.99;0.992	D;D	0.77004	0.98;0.989	D	0.85733	0.1332	10	0.23891	T	0.37	.	11.0336	0.47787	0.2494:0.0:0.7506:0.0	.	215;215	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	D	215	ENSP00000354162:E215D;ENSP00000247170:E215D;ENSP00000378557:E215D	ENSP00000247170:E215D	E	+	3	2	DAAM1	58859567	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.821000	0.39041	0.945000	0.37605	-0.133000	0.14855	GAG	DAAM1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold	ENSG00000100592		0.522	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	28	0.00	0	G	NM_014992		59789814	59789814	+1	no_errors	ENST00000351081	ensembl	human	known	69_37n	missense	48	28.36	19	SNP	1.000	C
DENND4A	10260	genome.wustl.edu	37	15	66022017	66022017	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr15:66022017C>T	ENST00000431932.2	-	10	1375		c.e10-1		DENND4A_ENST00000443035.3_Splice_Site	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTGCCACCACTGTCAATCCA	0.333																																						dbGAP											0													38.0	32.0	34.0					15																	66022017		1808	4013	5821	-	-	-	SO:0001630	splice_region_variant	0			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1167-1G>A	15.37:g.66022017C>T			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Splice_Site	SNP	-	e8-1	ENST00000431932.2	37	c.1167-1	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440324	0.83993	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5379	0.95262	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4A	63809071	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.619000	0.88677	0.650000	0.86243	.	DENND4A	-	-	ENSG00000174485		0.333	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	34	0.00	0	C	NM_005848	Intron	66022017	66022017	-1	no_errors	ENST00000443035	ensembl	human	known	69_37n	splice_site	67	11.84	9	SNP	1.000	T
DLGAP1	9229	genome.wustl.edu	37	18	3582137	3582137	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr18:3582137C>A	ENST00000315677.3	-	8	2296	c.1701G>T	c.(1699-1701)caG>caT	p.Q567H	DLGAP1_ENST00000400155.1_Missense_Mutation_p.Q273H|DLGAP1_ENST00000400149.3_Missense_Mutation_p.Q257H|DLGAP1_ENST00000400150.3_Missense_Mutation_p.Q283H|DLGAP1_ENST00000534970.1_Missense_Mutation_p.Q251H|DLGAP1_ENST00000400147.2_Missense_Mutation_p.Q265H|DLGAP1_ENST00000539435.1_Missense_Mutation_p.Q275H|DLGAP1_ENST00000400145.2_Missense_Mutation_p.Q265H|DLGAP1_ENST00000584874.1_Missense_Mutation_p.Q567H|DLGAP1_ENST00000581527.1_Missense_Mutation_p.Q567H|DLGAP1_ENST00000581699.1_Missense_Mutation_p.Q273H|DLGAP1_ENST00000515196.2_Missense_Mutation_p.Q567H	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	567					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGTAGGCATCCTGGGCTGACT	0.522																																						dbGAP											0													177.0	163.0	168.0					18																	3582137		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1701G>T	18.37:g.3582137C>A	ENSP00000316377:p.Gln567His		A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.Q567H	ENST00000315677.3	37	c.1701	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126654	0.56721	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.32753	2.36;2.3;2.28;2.35;2.3;2.53;2.29;1.44;2.35	5.53	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.62154	1.92	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	0.998;0.99;1.0;0.998;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.993;0.979;0.999;0.993;0.999;0.997;0.999;1.0	T	0.40646	-0.9552	10	0.35671	T	0.21	-22.5942	9.1126	0.36737	0.0:0.789:0.0:0.211	.	567;251;263;273;275;265;567;265	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	H	567;265;283;257;273;251;275;265;567	ENSP00000316377:Q567H;ENSP00000383011:Q265H;ENSP00000383014:Q283H;ENSP00000383013:Q257H;ENSP00000383019:Q273H;ENSP00000437817:Q251H;ENSP00000446312:Q275H;ENSP00000383010:Q265H;ENSP00000445973:Q567H	ENSP00000316377:Q567H	Q	-	3	2	DLGAP1	3572137	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.909000	0.39917	1.328000	0.45358	0.563000	0.77884	CAG	DLGAP1	-	NULL	ENSG00000170579		0.522	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	88	0.00	0	C			3582137	3582137	-1	no_errors	ENST00000315677	ensembl	human	known	69_37n	missense	229	14.55	39	SNP	1.000	A
DNAH14	127602	genome.wustl.edu	37	1	225488627	225488627	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:225488627G>A	ENST00000445597.2	+	36	6288	c.6288G>A	c.(6286-6288)ctG>ctA	p.L2096L	DNAH14_ENST00000439375.2_Silent_p.L2749L|DNAH14_ENST00000430092.1_Silent_p.L2749L			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2096					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TACCTGACCTGTTTGAAAATG	0.318																																						dbGAP											0													270.0	236.0	246.0					1																	225488627		692	1589	2281	-	-	-	SO:0001819	synonymous_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.6288G>A	1.37:g.225488627G>A			A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	superfamily_Tautomerase	p.V547I	ENST00000445597.2	37	c.1639		1																																																																																			DNAH14	-	NULL	ENSG00000185842		0.318	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	115	0.00	0	G	XM_059166		225488627	225488627	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000327794	ensembl	human	known	69_37n	missense	177	41.78	127	SNP	0.977	A
DNAJC13	23317	genome.wustl.edu	37	3	132245123	132245123	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:132245123C>A	ENST00000260818.6	+	53	6627	c.6379C>A	c.(6379-6381)Caa>Aaa	p.Q2127K		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2127					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTAGTAGCACAAGTAAGTGA	0.373																																						dbGAP											0													101.0	99.0	99.0					3																	132245123		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6379C>A	3.37:g.132245123C>A	ENSP00000260818:p.Gln2127Lys		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.Q2127K	ENST00000260818.6	37	c.6379	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026190	0.93518	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.47869	0.83	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	M	0.80183	2.485	0.80722	D	1	P	0.50443	0.935	P	0.47402	0.546	T	0.66476	-0.5914	10	0.52906	T	0.07	.	19.3963	0.94608	0.0:1.0:0.0:0.0	.	2127	O75165	DJC13_HUMAN	K	2127;774	ENSP00000260818:Q2127K	ENSP00000260818:Q2127K	Q	+	1	0	DNAJC13	133727813	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.647000	0.83462	2.662000	0.90505	0.591000	0.81541	CAA	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.373	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	40	0.00	0	C	NM_015268		132245123	132245123	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	missense	87	11.22	11	SNP	1.000	A
DOCK10	55619	genome.wustl.edu	37	2	225698925	225698925	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:225698925T>G	ENST00000258390.7	-	26	2973	c.2906A>C	c.(2905-2907)aAa>aCa	p.K969T	DOCK10_ENST00000409592.3_Missense_Mutation_p.K963T	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	969					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCACATTTTTAGCCAGTTC	0.363																																						dbGAP											0													135.0	131.0	132.0					2																	225698925		1939	4151	6090	-	-	-	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2906A>C	2.37:g.225698925T>G	ENSP00000258390:p.Lys969Thr		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K969T	ENST00000258390.7	37	c.2906	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165594	0.38217	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.04551	3.6;3.65	6.17	5.0	0.66597	.	0.087236	0.85682	D	0.000000	T	0.07369	0.0186	L	0.55990	1.75	0.37496	D	0.916584	P;B	0.36162	0.54;0.023	B;B	0.35770	0.21;0.019	T	0.21724	-1.0237	10	0.40728	T	0.16	.	13.8325	0.63389	0.0:0.0:0.1272:0.8727	.	969;963	Q96BY6;B3FL70	DOC10_HUMAN;.	T	963;969	ENSP00000386694:K963T;ENSP00000258390:K969T	ENSP00000258390:K969T	K	-	2	0	DOCK10	225407169	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.601000	0.54059	1.116000	0.41820	0.533000	0.62120	AAA	DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.363	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	86	0.00	0	T			225698925	225698925	-1	no_errors	ENST00000258390	ensembl	human	known	69_37n	missense	177	17.67	38	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56471604	56471604	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr6:56471604T>G	ENST00000361203.3	-	36	7196	c.7189A>C	c.(7189-7191)Agt>Cgt	p.S2397R	DST_ENST00000312431.6_Missense_Mutation_p.S2397R|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S2397R|DST_ENST00000370754.5_Missense_Mutation_p.S2575R|DST_ENST00000446842.2_Missense_Mutation_p.S2071R			Q03001	DYST_HUMAN	dystonin	2397	Asp-rich.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATCATCACTATCAGTGTCT	0.413																																						dbGAP											0													84.0	83.0	83.0					6																	56471604		2045	4208	6253	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.7189A>C	6.37:g.56471604T>G	ENSP00000354508:p.Ser2397Arg		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S2575R	ENST00000361203.3	37	c.7723		6	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929903	0.52759	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.87491	-0.65;-0.69;0.22;-2.26;-0.75;-1.16	5.03	2.67	0.31697	.	0.193397	0.35040	N	0.003490	D	0.87943	0.6305	.	.	.	0.26947	N	0.966124	D	0.69078	0.997	D	0.65010	0.931	D	0.87281	0.2292	8	0.72032	D	0.01	.	7.3901	0.26905	0.0:0.179:0.0:0.821	.	2071	Q03001-9	.	R	2575;2397;2071;2397;2397;2071	ENSP00000359790:S2575R;ENSP00000359805:S2397R;ENSP00000393645:S2071R;ENSP00000307959:S2397R;ENSP00000354508:S2397R;ENSP00000404924:S2071R	ENSP00000307959:S2397R	S	-	1	0	DST	56579563	0.004000	0.15560	0.383000	0.26132	0.620000	0.37586	0.653000	0.24902	0.997000	0.38969	0.374000	0.22700	AGT	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	19	0.00	0	T	NM_001723		56471604	56471604	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	82	21.15	22	SNP	0.187	G
DYNC1H1	1778	genome.wustl.edu	37	14	102467495	102467495	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr14:102467495T>C	ENST00000360184.4	+	20	4363	c.4199T>C	c.(4198-4200)gTg>gCg	p.V1400A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1400	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AATATGCTGGTGATTGAACTG	0.448																																						dbGAP											0													202.0	210.0	207.0					14																	102467495		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4199T>C	14.37:g.102467495T>C	ENSP00000348965:p.Val1400Ala		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.V1400A	ENST00000360184.4	37	c.4199	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909685	0.72983	.	.	ENSG00000197102	ENST00000360184	T	0.63580	-0.05	5.85	5.85	0.93711	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.73217	2.22	0.80722	D	1	D	0.53462	0.96	P	0.57152	0.814	T	0.77278	-0.2647	10	0.59425	D	0.04	.	16.2271	0.82306	0.0:0.0:0.0:1.0	.	1400	Q14204	DYHC1_HUMAN	A	1400	ENSP00000348965:V1400A	ENSP00000348965:V1400A	V	+	2	0	DYNC1H1	101537248	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.942000	0.87708	2.234000	0.73211	0.460000	0.39030	GTG	DYNC1H1	-	pfam_Dynein_heavy_dom-2	ENSG00000197102		0.448	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	65	0.00	0	T	NM_001376		102467495	102467495	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	100	41.86	72	SNP	1.000	C
DYNC1LI2	1783	genome.wustl.edu	37	16	66783211	66783211	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr16:66783211C>G	ENST00000258198.2	-	3	393	c.187G>C	c.(187-189)Gat>Cat	p.D63H	DYNC1LI2_ENST00000440564.2_Intron|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.D63H|RP11-61A14.4_ENST00000501143.1_lincRNA|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.D63H	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	63					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CCAGAACCATCTTCACCTACA	0.438																																						dbGAP											0													183.0	161.0	169.0					16																	66783211		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.187G>C	16.37:g.66783211C>G	ENSP00000258198:p.Asp63His		A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	pfam_Dynein_light_int_chain	p.D63H	ENST00000258198.2	37	c.187	CCDS10818.1	16	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825623	0.90955	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000443351	T;T;T	0.31247	1.5;1.5;1.5	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.58669	1.825	0.80722	D	1	P;D;D	0.89917	0.953;1.0;1.0	P;D;D	0.91635	0.903;0.999;0.993	T	0.55945	-0.8060	10	0.66056	D	0.02	-9.4745	18.0677	0.89396	0.0:1.0:0.0:0.0	.	63;63;63	B4DHD8;B4DZP4;O43237	.;.;DC1L2_HUMAN	H	63	ENSP00000258198:D63H;ENSP00000368795:D63H;ENSP00000394289:D63H	ENSP00000258198:D63H	D	-	1	0	DYNC1LI2	65340712	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.604000	0.82830	2.494000	0.84150	0.455000	0.32223	GAT	DYNC1LI2	-	pfam_Dynein_light_int_chain	ENSG00000135720		0.438	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	HGNC	protein_coding	OTTHUMT00000268846.1	108	0.00	0	C	NM_006141		66783211	66783211	-1	no_errors	ENST00000258198	ensembl	human	known	69_37n	missense	271	15.31	49	SNP	1.000	G
EIF2AK4	440275	genome.wustl.edu	37	15	40246168	40246168	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr15:40246168A>T	ENST00000263791.5	+	5	620	c.577A>T	c.(577-579)Aaa>Taa	p.K193*	EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.K193*|EIF2AK4_ENST00000559624.1_Nonsense_Mutation_p.K193*	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	193					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		gaaaaaaaggaaagaaaTGGC	0.338																																						dbGAP											0													51.0	45.0	47.0					15																	40246168		1826	4084	5910	-	-	-	SO:0001587	stop_gained	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.577A>T	15.37:g.40246168A>T	ENSP00000263791:p.Lys193*		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_cat_dom	p.K193*	ENST00000263791.5	37	c.577	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	A	40	8.004948	0.98605	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	5.76	5.76	0.90799	.	0.222920	0.44688	D	0.000424	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0085	13.653	0.62323	1.0:0.0:0.0:0.0	.	.	.	.	X	193	.	ENSP00000263791:K193X	K	+	1	0	EIF2AK4	38033460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.474000	0.66781	2.213000	0.71641	0.456000	0.33151	AAA	EIF2AK4	-	pirsf_Ser/Thr_kinase_GCN2	ENSG00000128829		0.338	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	38	0.00	0	A			40246168	40246168	+1	no_errors	ENST00000263791	ensembl	human	known	69_37n	nonsense	67	29.47	28	SNP	1.000	T
ELK1	2002	genome.wustl.edu	37	X	47500826	47500826	+	Silent	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chrX:47500826C>T	ENST00000247161.3	-	2	114	c.15G>A	c.(13-15)gtG>gtA	p.V5V	ELK1_ENST00000343894.4_Silent_p.V5V|ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000376983.3_Silent_p.V5V	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	5					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GCCACAGCGTCACAGATGGGT	0.582																																						dbGAP											0													50.0	33.0	39.0					X																	47500826		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.15G>A	X.37:g.47500826C>T			B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Silent	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.V5	ENST00000247161.3	37	c.15	CCDS14283.1	X																																																																																			ELK1	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000126767		0.582	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	24	0.00	0	C	NM_005229		47500826	47500826	-1	no_errors	ENST00000247161	ensembl	human	known	69_37n	silent	60	13.04	9	SNP	1.000	T
EPB41L4B	54566	genome.wustl.edu	37	9	112018071	112018071	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr9:112018071C>T	ENST00000374566.3	-	10	1499	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.V328I	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	328	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCATCCTCGACCACCACGAGT	0.448																																						dbGAP											0													122.0	126.0	125.0					9																	112018071		1925	4139	6064	-	-	-	SO:0001583	missense	0			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.982G>A	9.37:g.112018071C>T	ENSP00000363694:p.Val328Ile		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.V328I	ENST00000374566.3	37	c.982	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973617	0.92919	.	.	ENSG00000095203	ENST00000262536;ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.86865	-2.18;-2.18	5.53	5.53	0.82687	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.36303	N	0.002680	D	0.88840	0.6546	L	0.37750	1.13	0.80722	D	1	P;B	0.37141	0.584;0.41	B;P	0.51516	0.108;0.672	D	0.85902	0.1435	10	0.29301	T	0.29	.	19.4658	0.94939	0.0:1.0:0.0:0.0	.	328;328	Q9H329-2;Q9H329	.;E41LB_HUMAN	I	13;328;328;250	ENSP00000363694:V328I;ENSP00000363685:V328I	ENSP00000262536:V13I	V	-	1	0	EPB41L4B	111057892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.599000	0.87857	0.655000	0.94253	GTC	EPB41L4B	-	pfam_FERM_PH-like_C,pfscan_FERM_domain	ENSG00000095203		0.448	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	44	0.00	0	C	NM_018424		112018071	112018071	-1	no_errors	ENST00000374566	ensembl	human	known	69_37n	missense	65	24.14	21	SNP	1.000	T
EYS	346007	genome.wustl.edu	37	6	66115227	66115228	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr6:66115227_66115228delAC	ENST00000370621.3	-	6	1421_1422	c.895_896delGT	c.(895-897)gttfs	p.V299fs	EYS_ENST00000370618.3_Frame_Shift_Del_p.V299fs|EYS_ENST00000342421.5_Frame_Shift_Del_p.V299fs|EYS_ENST00000503581.1_Frame_Shift_Del_p.V299fs|EYS_ENST00000393380.2_Frame_Shift_Del_p.V299fs|EYS_ENST00000370616.2_Frame_Shift_Del_p.V299fs			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	299					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGCAGAGAAACACAAGGTTTT	0.361																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.895_896delGT	6.37:g.66115229_66115230delAC	ENSP00000359655:p.Val299fs		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.V299fs	ENST00000370621.3	37	c.896_895		6																																																																																			EYS	-	NULL	ENSG00000188107		0.361	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	47	0.00	0	AC	XM_294050		66115227	66115228	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	frame_shift_del	129	11.64	17	DEL	0.000:0.000	-
EVA1C	59271	genome.wustl.edu	37	21	33887394	33887394	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr21:33887394C>T	ENST00000300255.2	+	8	1693	c.1220C>T	c.(1219-1221)gCa>gTa	p.A407V	EVA1C_ENST00000382699.3_Missense_Mutation_p.A404V|EVA1C_ENST00000401402.3_Missense_Mutation_p.A359V|EVA1C_ENST00000485488.1_3'UTR	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	407						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATAGAAGCTGCAGAGCTCGCA	0.498																																						dbGAP											0													102.0	113.0	109.0					21																	33887394		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.1220C>T	21.37:g.33887394C>T	ENSP00000300255:p.Ala407Val		A6ND58|Q8IXZ0	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom	p.A407V	ENST00000300255.2	37	c.1220	CCDS13614.1	21	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366541	0.82463	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.42131	0.98;0.98;0.98	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.78916	2.43	0.45806	D	0.998689	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.69829	-0.5039	10	0.72032	D	0.01	-11.6187	20.2963	0.98556	0.0:1.0:0.0:0.0	.	404;407	A6ND58;P58658	.;CU063_HUMAN	V	407;359;404	ENSP00000300255:A407V;ENSP00000384594:A359V;ENSP00000372146:A404V	ENSP00000300255:A407V	A	+	2	0	C21orf63	32809265	0.999000	0.42202	0.937000	0.37676	0.988000	0.76386	4.250000	0.58772	2.813000	0.96785	0.655000	0.94253	GCA	FAM176C	-	NULL	ENSG00000166979		0.498	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM176C	HGNC	protein_coding	OTTHUMT00000139403.1	50	0.00	0	C	NM_058187		33887394	33887394	+1	no_errors	ENST00000300255	ensembl	human	known	69_37n	missense	50	38.27	31	SNP	0.980	T
FAM57A	79850	genome.wustl.edu	37	17	641191	641191	+	Silent	SNP	T	T	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr17:641191T>A	ENST00000308278.8	+	3	548	c.312T>A	c.(310-312)cgT>cgA	p.R104R	FAM57A_ENST00000301324.8_Silent_p.R104R|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	104	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		ACCAGAACCGTGCGCCCTCCC	0.512																																						dbGAP											0													211.0	182.0	192.0					17																	641191		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.312T>A	17.37:g.641191T>A			A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Silent	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.R104	ENST00000308278.8	37	c.312	CCDS10996.1	17																																																																																			FAM57A	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000167695		0.512	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM57A	HGNC	protein_coding	OTTHUMT00000437155.2	44	0.00	0	T	NM_024792		641191	641191	+1	no_errors	ENST00000308278	ensembl	human	known	69_37n	silent	39	53.01	44	SNP	0.000	A
FAT4	79633	genome.wustl.edu	37	4	126384757	126384757	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr4:126384757A>C	ENST00000394329.3	+	10	11847	c.11834A>C	c.(11833-11835)aAc>aCc	p.N3945T	FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3945	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTGAATGCAACCCCTGCTTT	0.303																																						dbGAP											0													137.0	118.0	124.0					4																	126384757		1568	3582	5150	-	-	-	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11834A>C	4.37:g.126384757A>C	ENSP00000377862:p.Asn3945Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.N3945T	ENST00000394329.3	37	c.11834	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	19.01	3.744140	0.69418	.	.	ENSG00000196159	ENST00000394329	T	0.77358	-1.09	5.34	4.16	0.48862	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.37012	U	0.002296	T	0.71476	0.3344	L	0.46741	1.465	0.80722	D	1	P;P	0.42456	0.78;0.705	B;B	0.41510	0.265;0.359	T	0.68708	-0.5337	10	0.39692	T	0.17	.	11.015	0.47682	0.9273:0.0:0.0727:0.0	.	3945;3945	Q6V0I7;Q6V0I7-3	FAT4_HUMAN;.	T	3945	ENSP00000377862:N3945T	ENSP00000377862:N3945T	N	+	2	0	FAT4	126604207	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	4.835000	0.62781	0.873000	0.35799	0.528000	0.53228	AAC	FAT4	-	smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000196159		0.303	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	168	0.59	1	A	NM_024582		126384757	126384757	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	missense	195	34.78	104	SNP	1.000	C
FLG	2312	genome.wustl.edu	37	1	152286937	152286937	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:152286937T>A	ENST00000368799.1	-	3	460	c.425A>T	c.(424-426)aAg>aTg	p.K142M	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	142					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGGGCTCTTGGATCTTCC	0.348									Ichthyosis																													dbGAP											0													176.0	190.0	185.0					1																	152286937		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.425A>T	1.37:g.152286937T>A	ENSP00000357789:p.Lys142Met		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.K142M	ENST00000368799.1	37	c.425	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527948	0.27299	.	.	ENSG00000143631	ENST00000368799	T	0.00724	5.78	5.09	-2.87	0.05700	.	.	.	.	.	T	0.00608	0.0020	L	0.34521	1.04	0.09310	N	1	D	0.69078	0.997	P	0.59012	0.85	T	0.50890	-0.8774	9	0.52906	T	0.07	-3.2334	10.7488	0.46196	0.0:0.5808:0.0:0.4192	.	142	P20930	FILA_HUMAN	M	142	ENSP00000357789:K142M	ENSP00000357789:K142M	K	-	2	0	FLG	150553561	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.227000	0.02950	-0.401000	0.07644	-0.333000	0.08304	AAG	FLG	-	NULL	ENSG00000143631		0.348	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	140	0.00	0	T	NM_002016		152286937	152286937	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	355	11.47	46	SNP	0.000	A
FMN2	56776	genome.wustl.edu	37	1	240370995	240370995	+	Silent	SNP	G	G	A	rs201866430	byFrequency	TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:240370995G>A	ENST00000319653.9	+	5	3113	c.2883G>A	c.(2881-2883)ggG>ggA	p.G961G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	961	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCTTCCCGGGGCAGGCATAC	0.692																																						dbGAP											0													20.0	23.0	22.0					1																	240370995		2199	4297	6496	-	-	-	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2883G>A	1.37:g.240370995G>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.G961	ENST00000319653.9	37	c.2883	CCDS31069.2	1																																																																																			FMN2	-	pfam_Formin_homology_1,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000155816		0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	20	0.00	0	G	XM_371352		240370995	240370995	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	silent	28	20.00	7	SNP	0.000	A
FMN2	56776	genome.wustl.edu	37	1	240370998	240370998	+	Silent	SNP	A	A	G	rs199866405	byFrequency	TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:240370998A>G	ENST00000319653.9	+	5	3116	c.2886A>G	c.(2884-2886)gcA>gcG	p.A962A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	962	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTCCCGGGGCAGGCATACCCC	0.697																																						dbGAP											0													21.0	23.0	23.0					1																	240370998		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2886A>G	1.37:g.240370998A>G			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.A962	ENST00000319653.9	37	c.2886	CCDS31069.2	1																																																																																			FMN2	-	pfam_Formin_homology_1,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000155816		0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	20	0.00	0	A	XM_371352		240370998	240370998	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	silent	27	20.00	7	SNP	0.061	G
FNDC1	84624	genome.wustl.edu	37	6	159660774	159660774	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr6:159660774C>T	ENST00000297267.9	+	14	4606	c.4406C>T	c.(4405-4407)aCc>aTc	p.T1469I	FNDC1-IT1_ENST00000419703.1_RNA|FNDC1_ENST00000340366.6_Missense_Mutation_p.T1406I	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1469	Thr-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ccgaggcccaccactgccacc	0.637																																						dbGAP											0													47.0	81.0	70.0					6																	159660774		1739	3486	5225	-	-	-	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4406C>T	6.37:g.159660774C>T	ENSP00000297267:p.Thr1469Ile		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T1469I	ENST00000297267.9	37	c.4406	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521909	0.27211	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.10005	2.92;3.72	5.02	4.13	0.48395	.	0.658638	0.13631	N	0.373753	T	0.12603	0.0306	M	0.63843	1.955	0.28180	N	0.928226	P;P	0.50272	0.933;0.89	P;B	0.52424	0.698;0.286	T	0.01259	-1.1403	10	0.66056	D	0.02	-7.9897	12.8478	0.57839	0.0:0.9194:0.0:0.0806	.	1406;1469	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	I	1469;1406	ENSP00000297267:T1469I;ENSP00000342460:T1406I	ENSP00000297267:T1469I	T	+	2	0	FNDC1	159580764	0.571000	0.26659	0.017000	0.16124	0.073000	0.16967	1.070000	0.30653	2.476000	0.83614	0.655000	0.94253	ACC	FNDC1	-	NULL	ENSG00000164694		0.637	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	45	0.00	0	C	NM_032532		159660774	159660774	+1	no_errors	ENST00000297267	ensembl	human	known	69_37n	missense	145	17.61	31	SNP	0.308	T
FZD8	8325	genome.wustl.edu	37	10	35930097	35930097	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr10:35930097G>C	ENST00000374694.1	-	1	265	c.261C>G	c.(259-261)ttC>ttG	p.F87L	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	87	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCTGCACAGGAAGAACTTGA	0.652																																						dbGAP											0													93.0	80.0	85.0					10																	35930097		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.261C>G	10.37:g.35930097G>C	ENSP00000363826:p.Phe87Leu			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F87L	ENST00000374694.1	37	c.261	CCDS7192.1	10	.	.	.	.	.	.	.	.	.	.	g	17.92	3.505644	0.64410	.	.	ENSG00000177283	ENST00000374694	T	0.60171	0.21	3.74	2.8	0.32819	Frizzled domain (5);	0.070576	0.56097	U	0.000024	T	0.71143	0.3305	M	0.71871	2.18	0.49798	D	0.999822	D	0.63880	0.993	D	0.74348	0.983	T	0.71817	-0.4478	10	0.66056	D	0.02	.	10.3773	0.44090	0.1008:0.0:0.8992:0.0	.	87	Q9H461	FZD8_HUMAN	L	87	ENSP00000363826:F87L	ENSP00000363826:F87L	F	-	3	2	FZD8	35970103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.424000	0.66464	0.671000	0.31185	0.443000	0.29094	TTC	FZD8	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000177283		0.652	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD8	HGNC	protein_coding	OTTHUMT00000047575.2	29	0.00	0	G	NM_031866		35930097	35930097	-1	no_errors	ENST00000374694	ensembl	human	known	69_37n	missense	43	34.33	23	SNP	1.000	C
GABRQ	55879	genome.wustl.edu	37	X	151821057	151821057	+	Silent	SNP	G	G	A	rs75916692		TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chrX:151821057G>A	ENST00000370306.2	+	9	1232	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	404					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCACCCCAGCGCAGGCCCCCC	0.582																																						dbGAP											0													65.0	63.0	64.0					X																	151821057		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1212G>A	X.37:g.151821057G>A			A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.A404	ENST00000370306.2	37	c.1212	CCDS14707.1	X																																																																																			GABRQ	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt	ENSG00000147402		0.582	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	HGNC	protein_coding	OTTHUMT00000058763.2	32	0.00	0	G	NM_018558		151821057	151821057	+1	no_errors	ENST00000370306	ensembl	human	known	69_37n	silent	57	12.31	8	SNP	0.000	A
G6PD	2539	genome.wustl.edu	37	X	153760236	153760236	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chrX:153760236C>T	ENST00000393564.2	-	13	1639	c.1527G>A	c.(1525-1527)tgG>tgA	p.W509*	G6PD_ENST00000369620.2_Nonsense_Mutation_p.W555*|G6PD_ENST00000393562.2_Nonsense_Mutation_p.W539*	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	509					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGGTTCACCCACTTGTAGG	0.672																																						dbGAP											0													64.0	41.0	49.0					X																	153760236		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1527G>A	X.37:g.153760236C>T	ENSP00000377194:p.Trp509*		D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Nonsense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH	p.W555*	ENST00000393564.2	37	c.1665	CCDS44023.1	X	.	.	.	.	.	.	.	.	.	.	C	38	7.001075	0.97994	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1272	0.72493	0.0:1.0:0.0:0.0	.	.	.	.	X	539;509;509;555	.	ENSP00000291567:W509X	W	-	3	0	G6PD	153413430	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.908000	0.75730	2.159000	0.67721	0.597000	0.82753	TGG	G6PD	-	NULL	ENSG00000160211		0.672	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	G6PD	HGNC	protein_coding	OTTHUMT00000061170.3	11	0.00	0	C	NM_000402		153760236	153760236	-1	no_errors	ENST00000369620	ensembl	human	known	69_37n	nonsense	11	57.69	15	SNP	1.000	T
GIGYF2	26058	genome.wustl.edu	37	2	233651995	233651995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:233651995delC	ENST00000409547.1	+	11	979	c.668delC	c.(667-669)gctfs	p.A223fs	GIGYF2_ENST00000409196.3_Frame_Shift_Del_p.A223fs|GIGYF2_ENST00000409451.3_Frame_Shift_Del_p.A245fs|GIGYF2_ENST00000409480.1_Frame_Shift_Del_p.A245fs|GIGYF2_ENST00000452341.2_Frame_Shift_Del_p.A54fs|GIGYF2_ENST00000373566.3_Frame_Shift_Del_p.A245fs|GIGYF2_ENST00000373563.4_Frame_Shift_Del_p.A223fs	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	223	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGGCGACTAGCTGGATCAAGG	0.453																																						dbGAP											0													117.0	119.0	118.0					2																	233651995		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.668delC	2.37:g.233651995delC	ENSP00000386537:p.Ala223fs		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Frame_Shift_Del	DEL	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.A245fs	ENST00000409547.1	37	c.734	CCDS33401.1	2																																																																																			GIGYF2	-	NULL	ENSG00000204120		0.453	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	84	0.00	0	C	NM_001103146		233651995	233651995	+1	no_errors	ENST00000373566	ensembl	human	known	69_37n	frame_shift_del	95	31.21	44	DEL	1.000	-
GOLGA6L7P	728310	genome.wustl.edu	37	15	29091055	29091055	+	RNA	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr15:29091055C>A	ENST00000569815.1	-	0	377					NR_047567.1				golgin A6 family-like 7, pseudogene																		CCTCTAGCTGCCTCCTTAGGG	0.498																																						dbGAP											0																																										-	-	-			0			AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29091055C>A				RNA	SNP	-	NULL	ENST00000569815.1	37	NULL		15																																																																																			GOLGA6L7P	-	-	ENSG00000261649		0.498	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	GOLGA6L7P	HGNC	pseudogene	OTTHUMT00000431796.1	26	0.00	0	C	XR_078490		29091055	29091055	-1	no_errors	ENST00000569815	ensembl	human	putative	69_37n	rna	52	28.77	21	SNP	0.000	A
GPR114	221188	genome.wustl.edu	37	16	57596304	57596304	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr16:57596304G>A	ENST00000340339.4	+	3	596	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.E25K	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	25					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						AGAGACATGGGAAGAACTCCT	0.572																																						dbGAP											0													108.0	92.0	98.0					16																	57596304		2198	4300	6498	-	-	-	SO:0001583	missense	0			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.73G>A	16.37:g.57596304G>A	ENSP00000342981:p.Glu25Lys		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.E25K	ENST00000340339.4	37	c.73	CCDS10785.1	16	.	.	.	.	.	.	.	.	.	.	G	0.196	-1.048812	0.01981	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.28454	1.61;1.61	3.89	-7.77	0.01227	.	1.660140	0.03921	N	0.283608	T	0.08268	0.0206	N	0.01705	-0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.17440	-1.0369	10	0.11485	T	0.65	.	2.5416	0.04727	0.2918:0.1564:0.3975:0.1543	.	25;25	B4E148;Q8IZF4	.;GP114_HUMAN	K	25	ENSP00000342981:E25K;ENSP00000290823:E25K	ENSP00000342981:E25K	E	+	1	0	GPR114	56153805	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.279000	0.00261	-2.112000	0.00835	-1.957000	0.00481	GAA	GPR114	-	NULL	ENSG00000159618		0.572	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3	48	0.00	0	G	NM_153837		57596304	57596304	+1	no_errors	ENST00000340339	ensembl	human	known	69_37n	missense	148	23.20	45	SNP	0.000	A
GPR115	221393	genome.wustl.edu	37	6	47686162	47686162	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr6:47686162T>C	ENST00000283303.2	+	9	2330	c.2072T>C	c.(2071-2073)aTg>aCg	p.M691T	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.M748T|GPR115_ENST00000327753.3_Missense_Mutation_p.M691T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	691					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TCTAAATTAATGAATCGTCAA	0.353																																					GBM(22;431 510 9010 26644 32828)	dbGAP											0													119.0	118.0	118.0					6																	47686162		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.2072T>C	6.37:g.47686162T>C	ENSP00000283303:p.Met691Thr		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.M748T	ENST00000283303.2	37	c.2243	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	T	9.332	1.060849	0.19987	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.33654	1.6;1.4;1.4	5.45	5.45	0.79879	.	0.228496	0.39909	N	0.001239	T	0.09379	0.0231	N	0.14661	0.345	0.28730	N	0.902526	B	0.33694	0.421	B	0.27500	0.08	T	0.08046	-1.0741	10	0.39692	T	0.17	-31.965	11.8292	0.52285	0.0:0.0:0.0:1.0	.	691	Q8IZF3	GP115_HUMAN	T	748;691;691	ENSP00000360264:M748T;ENSP00000328319:M691T;ENSP00000283303:M691T	ENSP00000283303:M691T	M	+	2	0	GPR115	47794121	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	3.432000	0.52824	2.289000	0.77006	0.533000	0.62120	ATG	GPR115	-	NULL	ENSG00000153294		0.353	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2	71	0.00	0	T	NM_153838		47686162	47686162	+1	no_errors	ENST00000371220	ensembl	human	known	69_37n	missense	150	18.48	34	SNP	1.000	C
GRIA4	2893	genome.wustl.edu	37	11	105804480	105804480	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr11:105804480G>T	ENST00000530497.1	+	13	2079	c.2079G>T	c.(2077-2079)tgG>tgT	p.W693C	AP000673.1_ENST00000583628.1_RNA|GRIA4_ENST00000282499.5_Missense_Mutation_p.W693C|GRIA4_ENST00000393127.2_Missense_Mutation_p.W693C|GRIA4_ENST00000525187.1_Missense_Mutation_p.W693C			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	693					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AAAAGATGTGGACCTACATGC	0.413																																						dbGAP											0													51.0	45.0	47.0					11																	105804480		2202	4299	6501	-	-	-	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2079G>T	11.37:g.105804480G>T	ENSP00000435775:p.Trp693Cys		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.W693C	ENST00000530497.1	37	c.2079	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880634	0.72294	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.27	5.27	0.74061	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000015	T	0.78336	0.4267	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86615	0.1875	10	0.87932	D	0	.	18.8999	0.92439	0.0:0.0:1.0:0.0	.	693;693	P48058;G3V164	GRIA4_HUMAN;.	C	693	ENSP00000282499:W693C;ENSP00000376835:W693C;ENSP00000435775:W693C;ENSP00000432180:W693C	ENSP00000282499:W693C	W	+	3	0	GRIA4	105309690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.754000	0.98908	2.479000	0.83701	0.591000	0.81541	TGG	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152578		0.413	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	36	0.00	0	G			105804480	105804480	+1	no_errors	ENST00000282499	ensembl	human	known	69_37n	missense	44	15.09	8	SNP	1.000	T
GSS	2937	genome.wustl.edu	37	20	33517366	33517366	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr20:33517366A>G	ENST00000216951.2	-	12	1237	c.1139T>C	c.(1138-1140)gTa>gCa	p.V380A	GSS_ENST00000451957.2_Missense_Mutation_p.V269A|GSS_ENST00000541098.1_Missense_Mutation_p.V252A	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	380					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CAGGGCCTGTACCATTTCCTC	0.547																																						dbGAP											0													232.0	202.0	212.0					20																	33517366		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1139T>C	20.37:g.33517366A>G	ENSP00000216951:p.Val380Ala		B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	pfam_Glutathione_synthase_euk,pfam_Glutathione_synth_subst-bd_euk,superfamily_PreATP-grasp_fold,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk	p.V380A	ENST00000216951.2	37	c.1139	CCDS13245.1	20	.	.	.	.	.	.	.	.	.	.	A	5.050	0.194899	0.09599	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.90563	-2.69;-2.69;-2.69	5.13	2.65	0.31530	ATP-grasp fold, subdomain 2 (1);	0.671970	0.15449	N	0.261784	T	0.73976	0.3656	N	0.11154	0.105	0.09310	N	0.999997	B;B	0.09022	0.002;0.001	B;B	0.18561	0.022;0.007	T	0.58025	-0.7709	10	0.09843	T	0.71	-9.2823	0.8971	0.01266	0.3741:0.1616:0.1:0.3643	.	269;380	B6F210;P48637	.;GSHB_HUMAN	A	380;252;269	ENSP00000216951:V380A;ENSP00000439744:V252A;ENSP00000407517:V269A	ENSP00000216951:V380A	V	-	2	0	GSS	32981027	0.072000	0.21174	0.987000	0.45799	0.946000	0.59487	0.565000	0.23578	1.922000	0.55676	0.402000	0.26972	GTA	GSS	-	pfam_Glutathione_synthase_euk,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk	ENSG00000100983		0.547	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSS	HGNC	protein_coding	OTTHUMT00000078821.2	48	0.00	0	A			33517366	33517366	-1	no_errors	ENST00000216951	ensembl	human	known	69_37n	missense	75	36.44	43	SNP	0.041	G
HCAR3	8843	genome.wustl.edu	37	12	123201043	123201043	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:123201043G>C	ENST00000528880.2	-	1	396	c.242C>G	c.(241-243)cCg>cGg	p.P81R	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	81					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	CATCACGAACGGCAGGCAGAT	0.537																																						dbGAP											0													55.0	56.0	56.0					12																	123201043		2203	4300	6503	-	-	-	SO:0001583	missense	0			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.242C>G	12.37:g.123201043G>C	ENSP00000436714:p.Pro81Arg		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.P81R	ENST00000528880.2	37	c.242	CCDS53842.1	12	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741206	0.30865	.	.	ENSG00000255398	ENST00000528880	T	0.73789	-0.78	3.27	3.27	0.37495	.	.	.	.	.	D	0.89012	0.6594	H	0.97635	4.045	0.38878	D	0.956834	D	0.89917	1.0	D	0.97110	1.0	D	0.89583	0.3822	9	0.87932	D	0	.	6.7781	0.23630	0.1381:0.0:0.8619:0.0	.	81	E9PI97	.	R	81	ENSP00000436714:P81R	ENSP00000436714:P81R	P	-	2	0	HCAR3	121766996	1.000000	0.71417	0.553000	0.28255	0.026000	0.11368	7.826000	0.86716	1.521000	0.48983	0.184000	0.17185	CCG	HCAR3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	ENSG00000255398		0.537	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR3	HGNC	protein_coding	OTTHUMT00000387549.2	27	0.00	0	G	NM_006018		123201043	123201043	-1	no_errors	ENST00000528880	ensembl	human	known	69_37n	missense	54	16.67	11	SNP	0.990	C
MROH7	374977	genome.wustl.edu	37	1	55175824	55175824	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:55175824G>A	ENST00000421030.2	+	24	4221	c.3936G>A	c.(3934-3936)caG>caA	p.Q1312Q	MROH7_ENST00000409996.1_Silent_p.Q880Q|MROH7-TTC4_ENST00000414150.2_Intron|MROH7_ENST00000454855.2_Silent_p.Q830Q	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1312						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GGATCATGCAGGCACTGGGCT	0.592																																						dbGAP											0													37.0	39.0	38.0					1																	55175824		1962	4151	6113	-	-	-	SO:0001819	synonymous_variant	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3936G>A	1.37:g.55175824G>A			A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	superfamily_ARM-type_fold	p.Q1312	ENST00000421030.2	37	c.3936	CCDS41342.2	1																																																																																			HEATR8	-	NULL	ENSG00000184313		0.592	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000346978.1	24	0.00	0	G	NM_198547		55175824	55175824	+1	no_errors	ENST00000421030	ensembl	human	known	69_37n	silent	23	51.06	24	SNP	0.555	A
HS3ST2	9956	genome.wustl.edu	37	16	22926863	22926863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr16:22926863C>T	ENST00000261374.3	+	2	1518	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	362					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AACCGTTGGGCAGGACTTCAG	0.458																																						dbGAP											0													94.0	106.0	102.0					16																	22926863		2195	4300	6495	-	-	-	SO:0001587	stop_gained	0			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.1084C>T	16.37:g.22926863C>T	ENSP00000261374:p.Gln362*		Q52LZ1	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom	p.Q362*	ENST00000261374.3	37	c.1084	CCDS10606.1	16	.	.	.	.	.	.	.	.	.	.	C	40	7.931731	0.98568	.	.	ENSG00000122254	ENST00000261374	.	.	.	5.11	5.11	0.69529	.	0.058404	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.5445	0.87857	0.0:1.0:0.0:0.0	.	.	.	.	X	362	.	ENSP00000261374:Q362X	Q	+	1	0	HS3ST2	22834364	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.070000	0.71220	2.375000	0.81037	0.561000	0.74099	CAG	HS3ST2	-	NULL	ENSG00000122254		0.458	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST2	HGNC	protein_coding	OTTHUMT00000211598.1	31	0.00	0	C	NM_006043		22926863	22926863	+1	no_errors	ENST00000261374	ensembl	human	known	69_37n	nonsense	81	22.12	23	SNP	1.000	T
IL1RAP	3556	genome.wustl.edu	37	3	190362053	190362053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:190362053C>A	ENST00000412504.2	+	9	1320	c.1068C>A	c.(1066-1068)taC>taA	p.Y356*	RN7SKP296_ENST00000411185.1_RNA|IL1RAP_ENST00000439062.1_Nonsense_Mutation_p.Y356*|IL1RAP_ENST00000443369.2_Nonsense_Mutation_p.Y356*|IL1RAP_ENST00000447382.1_Nonsense_Mutation_p.Y356*|IL1RAP_ENST00000072516.3_Nonsense_Mutation_p.Y356*|IL1RAP_ENST00000317757.3_Nonsense_Mutation_p.Y356*			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	356					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CTCCAAGATACACAGTGGAAC	0.463																																						dbGAP											0													153.0	119.0	131.0					3																	190362053		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1068C>A	3.37:g.190362053C>A	ENSP00000412053:p.Tyr356*		B1NLD0|D3DNW0|O14915|Q86WJ7	Nonsense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.Y356*	ENST00000412504.2	37	c.1068	CCDS3298.1	3	.	.	.	.	.	.	.	.	.	.	C	40	7.998700	0.98602	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000317757	.	.	.	5.89	5.89	0.94794	.	0.258064	0.40064	N	0.001189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6959	0.45899	0.0:0.8552:0.0:0.1448	.	.	.	.	X	356	.	ENSP00000072516:Y356X	Y	+	3	2	IL1RAP	191844747	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.656000	0.37355	2.797000	0.96272	0.563000	0.77884	TAC	IL1RAP	-	NULL	ENSG00000196083		0.463	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1	94	0.00	0	C			190362053	190362053	+1	no_errors	ENST00000443369	ensembl	human	known	69_37n	nonsense	181	30.00	78	SNP	1.000	A
INPP5D	3635	genome.wustl.edu	37	2	234079743	234079743	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:234079743G>A	ENST00000359570.5	+	19	1898	c.1898G>A	c.(1897-1899)cGt>cAt	p.R633H	INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000450745.1_Missense_Mutation_p.R397H|INPP5D_ENST00000455936.2_Missense_Mutation_p.R397H			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	645					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCAACCTACCGTTTTGAGAGA	0.493																																					NSCLC(82;1215 1426 16163 20348 41018)	dbGAP											0													69.0	71.0	70.0					2																	234079743		1925	4119	6044	-	-	-	SO:0001583	missense	0			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1898G>A	2.37:g.234079743G>A	ENSP00000352575:p.Arg633His		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,prints_SH2,pfscan_SH2	p.R633H	ENST00000359570.5	37	c.1898		2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582225	0.86748	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64;-3.64	4.79	4.79	0.61399	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	.	.	.	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98192	1.0463	9	0.87932	D	0	.	18.1938	0.89814	0.0:0.0:1.0:0.0	.	644;645	Q92835-2;Q92835	.;SHIP1_HUMAN	H	633;397;397;266;266;266	ENSP00000352575:R633H;ENSP00000407916:R397H;ENSP00000404610:R397H;ENSP00000400151:R266H;ENSP00000397421:R266H;ENSP00000405338:R266H	ENSP00000352575:R633H	R	+	2	0	INPP5D	233743806	1.000000	0.71417	0.986000	0.45419	0.577000	0.36160	9.325000	0.96381	2.373000	0.80994	0.561000	0.74099	CGT	INPP5D	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000168918		0.493	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		26	0.00	0	G	NM_001017915		234079743	234079743	+1	no_errors	ENST00000359570	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	1.000	A
ITGB1	3688	genome.wustl.edu	37	10	33218841	33218841	+	Silent	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr10:33218841T>C	ENST00000396033.2	-	4	420	c.285A>G	c.(283-285)gtA>gtG	p.V95V	ITGB1_ENST00000374956.4_Silent_p.V95V|ITGB1_ENST00000423113.1_Silent_p.V95V|ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000302278.3_Silent_p.V95V	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	95					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TACGGTTGGTTACATTTTTAT	0.408																																						dbGAP											0													267.0	264.0	265.0					10																	33218841		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.285A>G	10.37:g.33218841T>C			A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.V95	ENST00000396033.2	37	c.285	CCDS7174.1	10																																																																																			ITGB1	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000150093		0.408	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB1	HGNC	protein_coding	OTTHUMT00000047496.1	108	0.00	0	T	NM_002211		33218841	33218841	-1	no_errors	ENST00000374956	ensembl	human	known	69_37n	silent	213	35.06	115	SNP	0.198	C
ITPR3	3710	genome.wustl.edu	37	6	33654276	33654276	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr6:33654276G>C	ENST00000374316.5	+	44	7019	c.5959G>C	c.(5959-5961)Gat>Cat	p.D1987H	ITPR3_ENST00000605930.1_Missense_Mutation_p.D1987H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1987					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GTACCGCATGGATCTGGTGCT	0.542																																						dbGAP											0													143.0	106.0	119.0					6																	33654276		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5959G>C	6.37:g.33654276G>C	ENSP00000363435:p.Asp1987His		Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.D1987H	ENST00000374316.5	37	c.5959	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082545	0.76528	.	.	ENSG00000096433	ENST00000374316	D	0.93763	-3.28	4.62	3.69	0.42338	.	0.164143	0.52532	D	0.000063	D	0.93284	0.7860	M	0.74467	2.265	0.53005	D	0.999965	P;P	0.48834	0.916;0.612	P;B	0.53954	0.738;0.417	D	0.93682	0.6999	10	0.87932	D	0	-27.1978	10.117	0.42596	0.0777:0.0:0.7863:0.1359	.	1987;1657	Q14573;Q59ES2	ITPR3_HUMAN;.	H	1987	ENSP00000363435:D1987H	ENSP00000363435:D1987H	D	+	1	0	ITPR3	33762254	1.000000	0.71417	0.988000	0.46212	0.949000	0.60115	7.938000	0.87678	2.276000	0.75962	0.462000	0.41574	GAT	ITPR3	-	NULL	ENSG00000096433		0.542	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	42	0.00	0	G	NM_002224		33654276	33654276	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	112	18.84	26	SNP	1.000	C
KCNK9	51305	genome.wustl.edu	37	8	140715163	140715163	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr8:140715163C>A	ENST00000520439.1	-	1	136	c.73G>T	c.(73-75)Gtg>Ttg	p.V25L	KCNK9_ENST00000303015.1_Missense_Mutation_p.V25L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	25					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GCGTCGAACACGGCGGCGCCC	0.637																																						dbGAP											0													62.0	54.0	57.0					8																	140715163		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.73G>T	8.37:g.140715163C>A	ENSP00000430676:p.Val25Leu		Q2M290|Q540F2	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.V25L	ENST00000520439.1	37	c.73	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808574	0.90707	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.21031	2.03;2.03;2.03	3.54	3.54	0.40534	.	0.175493	0.36893	N	0.002354	T	0.47210	0.1433	M	0.86805	2.84	0.58432	D	0.999999	D	0.71674	0.998	P	0.61003	0.882	T	0.59958	-0.7356	10	0.66056	D	0.02	.	14.4381	0.67296	0.0:1.0:0.0:0.0	.	25	Q9NPC2	KCNK9_HUMAN	L	25	ENSP00000429847:V25L;ENSP00000302166:V25L;ENSP00000430676:V25L	ENSP00000302166:V25L	V	-	1	0	KCNK9	140784345	1.000000	0.71417	0.981000	0.43875	0.944000	0.59088	7.325000	0.79124	1.664000	0.50801	0.555000	0.69702	GTG	KCNK9	-	pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK	ENSG00000169427		0.637	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	42	0.00	0	C	NM_016601		140715163	140715163	-1	no_errors	ENST00000303015	ensembl	human	known	69_37n	missense	41	52.33	45	SNP	1.000	A
KDM4C	23081	genome.wustl.edu	37	9	6986428	6986428	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr9:6986428T>A	ENST00000381309.3	+	11	2004	c.1439T>A	c.(1438-1440)aTa>aAa	p.I480K	KDM4C_ENST00000543771.1_Missense_Mutation_p.I480K|KDM4C_ENST00000535193.1_Missense_Mutation_p.I502K|KDM4C_ENST00000442236.2_Missense_Mutation_p.I299K|KDM4C_ENST00000536108.1_Missense_Mutation_p.I299K|KDM4C_ENST00000381306.3_Missense_Mutation_p.I480K|KDM4C_ENST00000428870.2_Missense_Mutation_p.I167K	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	480					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GTACCTTCTATATCCAGTGAG	0.423																																						dbGAP											0													112.0	102.0	105.0					9																	6986428		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1439T>A	9.37:g.6986428T>A	ENSP00000370710:p.Ile480Lys		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.I480K	ENST00000381309.3	37	c.1439	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	T	0.673	-0.801327	0.02841	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.15	-2.36	0.06663	.	7.959200	0.00166	N	0.000000	T	0.13927	0.0337	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.21075	-1.0256	10	0.06099	T	0.92	-22.2512	2.5665	0.04784	0.2232:0.2976:0.068:0.4112	.	299;480;502;480;480	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	K	502;480;480;480;299;299;167	ENSP00000442382:I502K;ENSP00000445427:I480K;ENSP00000370710:I480K;ENSP00000370707:I480K;ENSP00000409353:I299K;ENSP00000440656:I299K;ENSP00000405739:I167K	ENSP00000370707:I480K	I	+	2	0	KDM4C	6976428	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.600000	0.02083	-0.552000	0.06167	-0.302000	0.09304	ATA	KDM4C	-	NULL	ENSG00000107077		0.423	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	64	0.00	0	T	NM_015061		6986428	6986428	+1	no_errors	ENST00000381309	ensembl	human	known	69_37n	missense	54	61.15	85	SNP	0.000	A
EFCAB14	9813	genome.wustl.edu	37	1	47149000	47149000	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:47149000G>A	ENST00000371933.3	-	10	2260	c.1284C>T	c.(1282-1284)atC>atT	p.I428I	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Silent_p.I364I|EFCAB14_ENST00000484461.1_5'Flank|EFCAB14-AS1_ENST00000442839.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	428							calcium ion binding (GO:0005509)										CTGGTAGGGAGATAGGTCTTA	0.388																																						dbGAP											0													117.0	122.0	120.0					1																	47149000		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1284C>T	1.37:g.47149000G>A			D3DQ23|Q5SXB8	Silent	SNP	pfscan_EF_HAND_2	p.I428	ENST00000371933.3	37	c.1284	CCDS30706.1	1																																																																																			KIAA0494	-	NULL	ENSG00000159658		0.388	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0494	HGNC	protein_coding	OTTHUMT00000021931.1	48	0.00	0	G	NM_014774		47149000	47149000	-1	no_errors	ENST00000371933	ensembl	human	known	69_37n	silent	123	10.79	15	SNP	0.989	A
KIAA1109	84162	genome.wustl.edu	37	4	123193324	123193324	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr4:123193324G>A	ENST00000264501.4	+	48	8583	c.8210G>A	c.(8209-8211)aGc>aAc	p.S2737N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2737N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2737N			Q2LD37	K1109_HUMAN	KIAA1109	2737					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAGTTCGGAGCCCTACAGAG	0.368																																						dbGAP											0													72.0	68.0	69.0					4																	123193324		1879	4103	5982	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8210G>A	4.37:g.123193324G>A	ENSP00000264501:p.Ser2737Asn		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.S2737N	ENST00000264501.4	37	c.8210	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.861938|1.861938	0.32884|0.32884	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.23552	.|2.49;2.49;1.9	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.119316	.|0.56097	.|D	.|0.000034	T|T	0.24431|0.24431	0.0592|0.0592	L|L	0.29908|0.29908	0.895|0.895	0.40544|0.40544	D|D	0.981053|0.981053	.|B;P;P	.|0.38922	.|0.403;0.557;0.651	.|B;B;B	.|0.39258	.|0.157;0.295;0.15	T|T	0.01541|0.01541	-1.1329|-1.1329	5|10	.|0.27785	.|T	.|0.31	.|.	20.2147|20.2147	0.98293|0.98293	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2737;2736;2737	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	T|N	1310|2737	.|ENSP00000264501:S2737N;ENSP00000373390:S2737N;ENSP00000389925:S2737N	.|ENSP00000264501:S2737N	A|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123412774|123412774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.110000|6.110000	0.71535|0.71535	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	GCC|AGC	KIAA1109	-	NULL	ENSG00000138688		0.368	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	36	0.00	0	G	NM_020797		123193324	123193324	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	68	10.53	8	SNP	1.000	A
KIAA1841	84542	genome.wustl.edu	37	2	61361346	61361346	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:61361346G>T	ENST00000295031.5	+	21	2480	c.2103G>T	c.(2101-2103)ttG>ttT	p.L701F		NM_032506.2	NP_115895.2	Q6NSI8	K1841_HUMAN	KIAA1841	0										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GTGTGCTCTTGATGacagtgt	0.378																																						dbGAP											0													164.0	144.0	151.0					2																	61361346		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000295031.5:c.2103G>T	2.37:g.61361346G>T	ENSP00000295031:p.Leu701Phe		Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.L701F	ENST00000295031.5	37	c.2103	CCDS1867.1	2	.	.	.	.	.	.	.	.	.	.	G	8.043	0.764246	0.15914	.	.	ENSG00000162929	ENST00000295031	.	.	.	2.12	-0.98	0.10272	.	0.712686	0.13344	N	0.394904	T	0.25865	0.0630	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21008	-1.0258	8	0.87932	D	0	.	2.9831	0.05960	0.31:0.236:0.454:0.0	.	701	Q6NSI8-2	.	F	701	.	ENSP00000295031:L701F	L	+	3	2	KIAA1841	61214850	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.092000	0.11129	-0.260000	0.09418	-0.643000	0.03959	TTG	KIAA1841	-	NULL	ENSG00000162929		0.378	KIAA1841-001	KNOWN	basic|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000251580.1	48	0.00	0	G	NM_032506		61361346	61361346	+1	no_errors	ENST00000295031	ensembl	human	known	69_37n	missense	129	21.34	35	SNP	0.000	T
KIF1B	23095	genome.wustl.edu	37	1	10332316	10332316	+	Silent	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:10332316T>C	ENST00000377086.1	+	9	1018	c.816T>C	c.(814-816)aaT>aaC	p.N272N	KIF1B_ENST00000263934.6_Silent_p.N272N|KIF1B_ENST00000377093.4_Silent_p.N272N|KIF1B_ENST00000377081.1_Silent_p.N272N|KIF1B_ENST00000377083.1_Silent_p.N272N			O60333	KIF1B_HUMAN	kinesin family member 1B	272	Interaction with KBP.|Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAAATATTAATAAGTCTCTTA	0.328																																						dbGAP											0													107.0	118.0	114.0					1																	10332316		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.816T>C	1.37:g.10332316T>C			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N272	ENST00000377086.1	37	c.816		1																																																																																			KIF1B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000054523		0.328	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	84	0.00	0	T			10332316	10332316	+1	no_errors	ENST00000263934	ensembl	human	known	69_37n	silent	148	16.38	29	SNP	1.000	C
KIF4B	285643	genome.wustl.edu	37	5	154394120	154394120	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr5:154394120C>A	ENST00000435029.4	+	1	861	c.701C>A	c.(700-702)tCc>tAc	p.S234Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	234	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCTTTCGCTCCAAGCTGCAT	0.458																																						dbGAP											0													103.0	101.0	102.0					5																	154394120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.701C>A	5.37:g.154394120C>A	ENSP00000387875:p.Ser234Tyr			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S234Y	ENST00000435029.4	37	c.701	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	c	16.30	3.083761	0.55861	.	.	ENSG00000226650	ENST00000435029	T	0.80994	-1.44	1.73	1.73	0.24493	Kinesin, motor domain (4);Kinesin, motor region, conserved site (1);	.	.	.	.	D	0.92296	0.7556	H	0.98333	4.205	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.92438	0.5959	9	0.87932	D	0	.	9.4402	0.38664	0.0:1.0:0.0:0.0	.	234	Q2VIQ3	KIF4B_HUMAN	Y	234	ENSP00000387875:S234Y	ENSP00000387875:S234Y	S	+	2	0	KIF4B	154374313	0.451000	0.25705	1.000000	0.80357	0.994000	0.84299	0.639000	0.24690	1.302000	0.44855	0.655000	0.94253	TCC	KIF4B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000226650		0.458	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	61	0.00	0	C			154394120	154394120	+1	no_errors	ENST00000435029	ensembl	human	known	69_37n	missense	104	18.11	23	SNP	1.000	A
KLC3	147700	genome.wustl.edu	37	19	45851256	45851256	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr19:45851256G>A	ENST00000391946.2	+	5	719	c.617G>A	c.(616-618)cGc>cAc	p.R206H	KLC3_ENST00000585434.1_Missense_Mutation_p.R205H|KLC3_ENST00000470402.1_Missense_Mutation_p.R220H	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	206					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATCCCTGCCCGCCTTCGGACC	0.677																																						dbGAP											0													19.0	24.0	22.0					19																	45851256		2166	4282	6448	-	-	-	SO:0001583	missense	0			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.617G>A	19.37:g.45851256G>A	ENSP00000375810:p.Arg206His		A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R220H	ENST00000391946.2	37	c.659	CCDS12660.2	19	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696073	0.68386	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.50001	0.76;0.76	3.72	3.72	0.42706	Tetratricopeptide-like helical (1);Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.64402	D	0.000002	T	0.62490	0.2432	L	0.60904	1.88	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70716	0.95;0.95;0.97	T	0.67047	-0.5769	10	0.87932	D	0	-18.5245	13.3958	0.60851	0.0:0.0:1.0:0.0	.	205;220;206	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	H	206;220	ENSP00000375810:R206H;ENSP00000436019:R220H	ENSP00000375810:R206H	R	+	2	0	KLC3	50543096	1.000000	0.71417	0.593000	0.28771	0.285000	0.27093	9.379000	0.97198	2.100000	0.63781	0.462000	0.41574	CGC	KLC3	-	pfam_Rabaptin_Rab5-bd_dom,prints_Kinesin_light	ENSG00000104892		0.677	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	HGNC	protein_coding	OTTHUMT00000289776.1	12	0.00	0	G	NM_145275		45851256	45851256	+1	no_errors	ENST00000470402	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	1.000	A
KLF15	28999	genome.wustl.edu	37	3	126071324	126071324	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:126071324G>A	ENST00000296233.3	-	2	672	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	148					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TTCTCCTCCAGAAACTCTTCA	0.577																																						dbGAP											0													46.0	49.0	48.0					3																	126071324		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.442C>T	3.37:g.126071324G>A				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L148	ENST00000296233.3	37	c.442	CCDS3036.1	3																																																																																			KLF15	-	NULL	ENSG00000163884		0.577	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	11	0.00	0	G	NM_014079		126071324	126071324	-1	no_errors	ENST00000296233	ensembl	human	known	69_37n	silent	23	41.03	16	SNP	1.000	A
KLRB1	3820	genome.wustl.edu	37	12	9750720	9750721	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:9750720_9750721delAG	ENST00000229402.3	-	5	497_498	c.451_452delCT	c.(451-453)ctgfs	p.L151fs		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	151	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						AATCCAAAACAGAATTGCTTTG	0.327																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.451_452delCT	12.37:g.9750720_9750721delAG	ENSP00000229402:p.Leu151fs		Q24K24	Frame_Shift_Del	DEL	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L151fs	ENST00000229402.3	37	c.452_451	CCDS8601.1	12																																																																																			KLRB1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000111796		0.327	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRB1	HGNC	protein_coding	OTTHUMT00000400280.1	43	0.00	0	AG	NM_002258		9750720	9750721	-1	no_errors	ENST00000229402	ensembl	human	known	69_37n	frame_shift_del	62	16.22	12	DEL	0.000:0.000	-
LAMA1	284217	genome.wustl.edu	37	18	7011398	7011400	+	In_Frame_Del	DEL	GTA	GTA	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	GTA	GTA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr18:7011398_7011400delGTA	ENST00000389658.3	-	25	3679_3681	c.3586_3588delTAC	c.(3586-3588)tacdel	p.Y1196del		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1196	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGGGGGCCTGGTAGTAAACCCCC	0.611																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3586_3588delTAC	18.37:g.7011401_7011403delGTA	ENSP00000374309:p.Tyr1196del			In_Frame_Del	DEL	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Y1196in_frame_del	ENST00000389658.3	37	c.3588_3586	CCDS32787.1	18																																																																																			LAMA1	-	pfscan_Laminin_B_type_IV	ENSG00000101680		0.611	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	22	0.00	0	GTA	NM_005559		7011398	7011400	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	in_frame_del	19	34.48	10	DEL	0.583:0.507:0.449	-
LPIN2	9663	genome.wustl.edu	37	18	2934386	2934386	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr18:2934386G>T	ENST00000261596.4	-	8	1469	c.1231C>A	c.(1231-1233)Cta>Ata	p.L411I		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	411					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCAGGTTCTAGACCCTTTAAG	0.348																																						dbGAP											0													103.0	98.0	100.0					18																	2934386		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1231C>A	18.37:g.2934386G>T	ENSP00000261596:p.Leu411Ile		A7MD25|D3DUH3	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.L411I	ENST00000261596.4	37	c.1231	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979805	0.74360	.	.	ENSG00000101577	ENST00000261596	D	0.83673	-1.75	5.75	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	M	0.81802	2.56	0.51482	D	0.999928	D	0.89917	1.0	D	0.85130	0.997	D	0.86955	0.2088	10	0.49607	T	0.09	-13.4436	4.3451	0.11129	0.4459:0.0:0.5541:0.0	.	411	Q92539	LPIN2_HUMAN	I	411	ENSP00000261596:L411I	ENSP00000261596:L411I	L	-	1	2	LPIN2	2924386	1.000000	0.71417	0.785000	0.31869	0.970000	0.65996	3.388000	0.52509	1.436000	0.47453	-0.157000	0.13467	CTA	LPIN2	-	NULL	ENSG00000101577		0.348	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	55	0.00	0	G	NM_014646		2934386	2934386	-1	no_errors	ENST00000261596	ensembl	human	known	69_37n	missense	120	14.29	20	SNP	0.948	T
LRP2	4036	genome.wustl.edu	37	2	170127501	170127501	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:170127501C>T	ENST00000263816.3	-	16	2518	c.2233G>A	c.(2233-2235)Ggg>Agg	p.G745R	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	745					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AAATCAATCCCGACAAAGAAA	0.418																																						dbGAP											0													131.0	117.0	122.0					2																	170127501		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2233G>A	2.37:g.170127501C>T	ENSP00000263816:p.Gly745Arg		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G745R	ENST00000263816.3	37	c.2233	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.283368	0.95489	.	.	ENSG00000081479	ENST00000263816	D	0.93247	-3.19	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96585	0.9433	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	745	P98164	LRP2_HUMAN	R	745	ENSP00000263816:G745R	ENSP00000263816:G745R	G	-	1	0	LRP2	169835747	1.000000	0.71417	0.992000	0.48379	0.717000	0.41224	7.703000	0.84585	2.885000	0.99019	0.655000	0.94253	GGG	LRP2	-	smart_LDLR_classB_rpt	ENSG00000081479		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	34	0.00	0	C	NM_004525		170127501	170127501	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	106	28.86	43	SNP	1.000	T
LRRC8C	84230	genome.wustl.edu	37	1	90178422	90178422	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:90178422G>A	ENST00000370454.4	+	3	548	c.293G>A	c.(292-294)gGc>gAc	p.G98D	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	98					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GAAATGAAAGGCCTGAAGACA	0.478																																						dbGAP											0													116.0	108.0	111.0					1																	90178422		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.293G>A	1.37:g.90178422G>A	ENSP00000359483:p.Gly98Asp		B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G98D	ENST00000370454.4	37	c.293	CCDS725.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.094608	0.94149	.	.	ENSG00000171488	ENST00000370454	T	0.30981	1.51	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48222	-0.9054	10	0.87932	D	0	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	98	Q8TDW0	LRC8C_HUMAN	D	98	ENSP00000359483:G98D	ENSP00000359483:G98D	G	+	2	0	LRRC8C	89951010	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GGC	LRRC8C	-	NULL	ENSG00000171488		0.478	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	HGNC	protein_coding	OTTHUMT00000028435.2	43	0.00	0	G	NM_032270		90178422	90178422	+1	no_errors	ENST00000370454	ensembl	human	known	69_37n	missense	60	11.76	8	SNP	1.000	A
MARK2	2011	genome.wustl.edu	37	11	63670121	63670122	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr11:63670121_63670122delAG	ENST00000509502.2	+	13	1644_1645	c.1181_1182delAG	c.(1180-1182)cagfs	p.Q394fs	MARK2_ENST00000502399.3_Frame_Shift_Del_p.Q427fs|MARK2_ENST00000508192.1_Frame_Shift_Del_p.Q427fs|MARK2_ENST00000425897.2_Frame_Shift_Del_p.Q394fs|MARK2_ENST00000408948.3_Frame_Shift_Del_p.Q394fs|MARK2_ENST00000377810.3_Frame_Shift_Del_p.Q394fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.Q428fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.Q428fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.Q428fs|MARK2_ENST00000513765.2_Frame_Shift_Del_p.Q395fs|MARK2_ENST00000402010.2_Frame_Shift_Del_p.Q428fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.Q427fs|MARK2_ENST00000377809.4_Frame_Shift_Del_p.Q428fs	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGAAGACTCAGAGTAACAACG	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1181_1182delAG	11.37:g.63670123_63670124delAG	ENSP00000423974:p.Gln394fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.S429fs	ENST00000509502.2	37	c.1283_1284	CCDS41665.1	11																																																																																			MARK2	-	NULL	ENSG00000072518		0.599	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	14	0.00	0	AG	NM_017490		63670121	63670122	+1	no_errors	ENST00000402010	ensembl	human	known	69_37n	frame_shift_del	17	58.14	25	DEL	1.000:1.000	-
MDM4	4194	genome.wustl.edu	37	1	204495552	204495553	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:204495552_204495553delCT	ENST00000367182.3	+	3	305_306	c.143_144delCT	c.(142-144)actfs	p.T48fs	MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Frame_Shift_Del_p.T48fs|MDM4_ENST00000367180.1_Frame_Shift_Del_p.T48fs|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000454264.2_Frame_Shift_Del_p.T48fs|MDM4_ENST00000391947.2_Frame_Shift_Del_p.T48fs	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	48	SWIB.				cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GAAATGTTCACTGTTAAAGAGG	0.371			A		"""GBM, bladder, retinoblastoma"""																																	dbGAP		Dom	yes		1	1q32	4194	Mdm4 p53 binding protein homolog		M	0																																										-	-	-	SO:0001589	frameshift_variant	0			AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.143_144delCT	1.37:g.204495552_204495553delCT	ENSP00000356150:p.Thr48fs		Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Frame_Shift_Del	DEL	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.T48fs	ENST00000367182.3	37	c.143_144	CCDS1447.1	1																																																																																			MDM4	-	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4	ENSG00000198625		0.371	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM4	HGNC	protein_coding	OTTHUMT00000087415.2	58	0.00	0	CT	NM_002393		204495552	204495553	+1	no_errors	ENST00000367182	ensembl	human	known	69_37n	frame_shift_del	90	13.46	14	DEL	1.000:0.948	-
MED20	9477	genome.wustl.edu	37	6	41877006	41877006	+	Splice_Site	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr6:41877006C>A	ENST00000265350.4	-	3	504		c.e3+1		MED20_ENST00000409312.1_Intron|MED20_ENST00000467535.1_Splice_Site|MED20_ENST00000409060.1_Missense_Mutation_p.V142L	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20						gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAAGGTCTTACCTCCACAGAG	0.517																																						dbGAP											0													69.0	76.0	74.0					6																	41877006		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"""	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.423+1G>T	6.37:g.41877006C>A			B4DE08|O95821|Q5T8J4|Q9Y429	Splice_Site	SNP	-	e3+1	ENST00000265350.4	37	c.423+1	CCDS4862.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.895544|4.895544	0.91962|0.91962	.|.	.|.	ENSG00000124641|ENSG00000124641	ENST00000265350;ENST00000394251|ENST00000409060	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75975	.|0.3923	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77387	.|-0.2607	.|5	.|0.72032	.|D	.|0.01	.|.	19.8936|19.8936	0.96942|0.96942	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|L	-1|142	.|.	.|ENSP00000386668:V142L	.|V	-|-	.|1	.|0	MED20|MED20	41984984|41984984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	.|GTA	MED20	-	-	ENSG00000124641		0.517	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED20	HGNC	protein_coding	OTTHUMT00000040539.1	23	0.00	0	C	NM_004275	Intron	41877006	41877006	-1	no_errors	ENST00000265350	ensembl	human	known	69_37n	splice_site	35	27.08	13	SNP	1.000	A
MIR155HG	114614	genome.wustl.edu	37	21	26946431	26946431	+	lincRNA	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr21:26946431C>T	ENST00000385060.1	+	0	130					NR_030784.1				MIR155 host gene (non-protein coding)																		GCATGAGTCACCCTGCTGGAT	0.383																																						dbGAP											0													77.0	62.0	66.0					21																	26946431		692	1591	2283	-	-	-			0			AF402776		21q21.3	2014-07-18	2011-02-14	2009-07-24	ENSG00000234883	ENSG00000234883		"""-"""	35460	non-coding RNA	RNA, long non-coding	"""B-cell receptor inducible"", ""BIC transcript"", ""non-protein coding RNA 172"""		"""microRNA host gene 2 (non-protein coding)"""	MIRHG2		21296997, 23246696	Standard	NR_001458		Approved	BIC, NCRNA00172	uc002ylm.4		OTTHUMG00000078367		21.37:g.26946431C>T				RNA	SNP	-	NULL	ENST00000385060.1	37	NULL		21																																																																																			MIR155HG	-	-	ENSG00000234883		0.383	MIR155HG-201	KNOWN	basic	miRNA	MIR155HG	HGNC	lincRNA		28	0.00	0	C	NR_001458		26946431	26946431	+1	no_errors	ENST00000456917	ensembl	human	known	69_37n	rna	44	12.00	6	SNP	0.953	T
FBXL18	80028	genome.wustl.edu	37	7	5535475	5535475	+	Intron	SNP	G	G	C	rs375178432		TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr7:5535475G>C	ENST00000382368.3	-	4	1905				FBXL18_ENST00000453700.3_Intron|MIR589_ENST00000385238.1_RNA	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18										FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TCTGGGAACCGGCATTTGTTC	0.612																																						dbGAP											0													34.0	34.0	34.0					7																	5535475		1551	3557	5108	-	-	-	SO:0001627	intron_variant	0			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1782-4395C>G	7.37:g.5535475G>C			Q9BR90|Q9BTC7|Q9HAK7	RNA	SNP	-	NULL	ENST00000382368.3	37	NULL	CCDS43546.1	7																																																																																			MIR589	-	-	ENSG00000207973		0.612	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR589	HGNC	protein_coding	OTTHUMT00000324093.1	28	0.00	0	G	NM_024963		5535475	5535475	-1	no_errors	ENST00000385238	ensembl	human	known	69_37n	rna	63	28.41	25	SNP	0.000	C
MPDZ	8777	genome.wustl.edu	37	9	13222406	13222406	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr9:13222406G>A	ENST00000319217.7	-	6	820	c.573C>T	c.(571-573)atC>atT	p.I191I	MPDZ_ENST00000447879.1_Silent_p.I191I|MPDZ_ENST00000381022.2_Silent_p.I191I|MPDZ_ENST00000536827.1_Silent_p.I191I|MPDZ_ENST00000381015.4_Silent_p.I191I|MPDZ_ENST00000541718.1_Silent_p.I191I|MPDZ_ENST00000546205.1_Silent_p.I191I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	191	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCTGTCCATTGATAGCAAGAA	0.413																																						dbGAP											0													213.0	196.0	201.0					9																	13222406		1891	4119	6010	-	-	-	SO:0001819	synonymous_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.573C>T	9.37:g.13222406G>A			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.I191	ENST00000319217.7	37	c.573		9																																																																																			MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107186		0.413	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	73	0.00	0	G	NM_003829		13222406	13222406	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	silent	186	12.62	27	SNP	1.000	A
MPP5	64398	genome.wustl.edu	37	14	67784190	67784190	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr14:67784190A>C	ENST00000261681.4	+	11	2024	c.1363A>C	c.(1363-1365)Aat>Cat	p.N455H	MPP5_ENST00000555925.1_Missense_Mutation_p.N421H|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	455					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TGCCAATAAAAATGATGGTAA	0.328																																						dbGAP											0													75.0	77.0	77.0					14																	67784190		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1363A>C	14.37:g.67784190A>C	ENSP00000261681:p.Asn455His		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.N455H	ENST00000261681.4	37	c.1363	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445971	0.84101	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	D;D	0.83163	-1.69;-1.69	5.72	5.72	0.89469	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.86218	0.5880	L	0.40543	1.245	0.80722	D	1	P	0.50443	0.935	P	0.59012	0.85	D	0.87707	0.2564	10	0.87932	D	0	.	15.9933	0.80223	1.0:0.0:0.0:0.0	.	455	Q8N3R9	MPP5_HUMAN	H	455;421	ENSP00000261681:N455H;ENSP00000451488:N421H	ENSP00000261681:N455H	N	+	1	0	MPP5	66853943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.084000	0.89516	2.175000	0.68902	0.454000	0.30748	AAT	MPP5	-	superfamily_SH3_domain	ENSG00000072415		0.328	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	53	0.00	0	A	NM_022474		67784190	67784190	+1	no_errors	ENST00000261681	ensembl	human	known	69_37n	missense	143	13.33	22	SNP	1.000	C
MXD1	4084	genome.wustl.edu	37	2	70164405	70164405	+	Silent	SNP	C	C	A	rs141349752	byFrequency	TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:70164405C>A	ENST00000264444.2	+	5	617	c.357C>A	c.(355-357)atC>atA	p.I119I	MXD1_ENST00000540449.1_Silent_p.I109I	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	119					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TTCACCAAATCGACCAGCTTC	0.557																																						dbGAP											0													117.0	119.0	118.0					2																	70164405		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.357C>A	2.37:g.70164405C>A			B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.I119	ENST00000264444.2	37	c.357	CCDS1896.1	2																																																																																			MXD1	-	superfamily_HLH_DNA-bd	ENSG00000059728		0.557	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXD1	HGNC	protein_coding	OTTHUMT00000251845.3	24	0.00	0	C	NM_002357		70164405	70164405	+1	no_errors	ENST00000264444	ensembl	human	known	69_37n	silent	42	37.31	25	SNP	0.988	A
MYH15	22989	genome.wustl.edu	37	3	108159994	108159994	+	Silent	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:108159994C>T	ENST00000273353.3	-	24	2885	c.2829G>A	c.(2827-2829)gaG>gaA	p.E943E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	943						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAGAATTTATCTCCTCTTCTT	0.478																																						dbGAP											0													141.0	143.0	143.0					3																	108159994		1977	4164	6141	-	-	-	SO:0001819	synonymous_variant	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2829G>A	3.37:g.108159994C>T				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E943	ENST00000273353.3	37	c.2829	CCDS43127.1	3																																																																																			MYH15	-	superfamily_Prefoldin	ENSG00000144821		0.478	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	87	0.00	0	C	XM_036988		108159994	108159994	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	silent	189	16.00	36	SNP	1.000	T
MYH4	4622	genome.wustl.edu	37	17	10358115	10358115	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr17:10358115G>A	ENST00000255381.2	-	22	2558	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	816					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACTGAATGCAGAAGATGGACT	0.418																																						dbGAP											0													127.0	105.0	113.0					17																	10358115		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2448C>T	17.37:g.10358115G>A				Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F816	ENST00000255381.2	37	c.2448	CCDS11154.1	17																																																																																			MYH4	-	NULL	ENSG00000264424		0.418	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	76	0.00	0	G	NM_017533		10358115	10358115	-1	no_errors	ENST00000255381	ensembl	human	known	69_37n	silent	116	34.27	61	SNP	1.000	A
NCAPH	23397	genome.wustl.edu	37	2	97019092	97019092	+	Missense_Mutation	SNP	C	C	G	rs372098005		TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:97019092C>G	ENST00000240423.4	+	8	1002	c.959C>G	c.(958-960)gCc>gGc	p.A320G	NCAPH_ENST00000455200.1_Missense_Mutation_p.A309G|NCAPH_ENST00000427946.1_Missense_Mutation_p.A184G	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	320					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCTTCCCTGGCCGGGTTCCAG	0.507																																						dbGAP											0													121.0	102.0	108.0					2																	97019092		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.959C>G	2.37:g.97019092C>G	ENSP00000240423:p.Ala320Gly		B4E189|Q8TB87	Missense_Mutation	SNP	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.A320G	ENST00000240423.4	37	c.959	CCDS2021.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164667	0.78339	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.76	4.87	0.63330	.	0.244803	0.42053	D	0.000766	T	0.60586	0.2280	L	0.59436	1.845	0.32390	N	0.553328	D;D;D;D	0.67145	0.991;0.991;0.996;0.991	D;D;D;D	0.65323	0.91;0.91;0.934;0.91	T	0.66662	-0.5867	10	0.25106	T	0.35	-15.73	13.7198	0.62720	0.1553:0.8447:0.0:0.0	.	296;309;309;320	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	G	320;184;309;201;309	ENSP00000240423:A320G;ENSP00000400774:A184G;ENSP00000405237:A309G;ENSP00000401227:A201G;ENSP00000407308:A309G	ENSP00000240423:A320G	A	+	2	0	NCAPH	96382819	0.953000	0.32496	0.917000	0.36280	0.985000	0.73830	2.011000	0.40922	1.403000	0.46800	0.655000	0.94253	GCC	NCAPH	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	ENSG00000121152		0.507	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	HGNC	protein_coding	OTTHUMT00000252842.2	63	0.00	0	C	NM_015341		97019092	97019092	+1	no_errors	ENST00000240423	ensembl	human	known	69_37n	missense	117	25.95	41	SNP	0.981	G
NCOR1	9611	genome.wustl.edu	37	17	16012203	16012203	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr17:16012203C>A	ENST00000268712.3	-	19	2336	c.2079G>T	c.(2077-2079)gaG>gaT	p.E693D	NCOR1_ENST00000395848.1_Missense_Mutation_p.E584D|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Missense_Mutation_p.E693D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	693					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACACATCTCGCTCTTCACGAG	0.358																																						dbGAP											0													101.0	96.0	97.0					17																	16012203		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2079G>T	17.37:g.16012203C>A	ENSP00000268712:p.Glu693Asp		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E693D	ENST00000268712.3	37	c.2079	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809826	0.70797	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.40225	1.04;1.04;1.04	5.31	-0.563	0.11778	.	0.095054	0.64402	D	0.000001	T	0.49525	0.1562	L	0.47716	1.5	0.80722	D	1	D;B;D	0.61697	0.968;0.217;0.99	P;B;D	0.73380	0.704;0.132;0.98	T	0.32666	-0.9898	10	0.39692	T	0.17	-11.4539	9.1405	0.36901	0.0:0.5048:0.0:0.4952	.	584;693;693	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	D	693;693;584;584	ENSP00000268712:E693D;ENSP00000379192:E693D;ENSP00000379189:E584D	ENSP00000268712:E693D	E	-	3	2	NCOR1	15952928	0.865000	0.29922	0.990000	0.47175	0.996000	0.88848	-0.095000	0.11077	-0.350000	0.08262	0.591000	0.81541	GAG	NCOR1	-	NULL	ENSG00000141027		0.358	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	52	0.00	0	C	NM_006311		16012203	16012203	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	missense	70	41.67	50	SNP	0.994	A
NHS	4810	genome.wustl.edu	37	X	17750232	17750232	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chrX:17750232C>T	ENST00000380060.3	+	8	4879	c.4541C>T	c.(4540-4542)tCt>tTt	p.S1514F	NHS_ENST00000398097.3_Missense_Mutation_p.S1358F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1535					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TACCGCATGTCTGCCACTGAG	0.507																																						dbGAP											0													91.0	86.0	88.0					X																	17750232		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4541C>T	X.37:g.17750232C>T	ENSP00000369400:p.Ser1514Phe		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.S1514F	ENST00000380060.3	37	c.4541	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743912	0.89663	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.75589	-0.95;-0.95	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.86230	0.5883	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.87353	0.2339	10	0.87932	D	0	-14.6634	18.877	0.92341	0.0:1.0:0.0:0.0	.	1535;1356;1358;1514	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	F	1514;1358;1356	ENSP00000369400:S1514F;ENSP00000381170:S1358F	ENSP00000369397:S1356F	S	+	2	0	NHS	17660153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.252000	0.78309	2.492000	0.84095	0.600000	0.82982	TCT	NHS	-	NULL	ENSG00000188158		0.507	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	40	0.00	0	C	NM_198270		17750232	17750232	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	missense	76	22.45	22	SNP	1.000	T
NMUR2	56923	genome.wustl.edu	37	5	151784140	151784140	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr5:151784140G>A	ENST00000255262.3	-	1	700	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	179					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GTGTTGGGCAGGGAGAAGAGC	0.627																																						dbGAP											0													95.0	99.0	98.0					5																	151784140		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.535C>T	5.37:g.151784140G>A			Q7LC54|Q96AM5|Q9NRA6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_7TM_GPCR_Rhodpsn	p.L179	ENST00000255262.3	37	c.535	CCDS4321.1	5																																																																																			NMUR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NeuromedU_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000132911		0.627	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR2	HGNC	protein_coding	OTTHUMT00000252439.1	32	0.00	0	G	NM_020167		151784140	151784140	-1	no_errors	ENST00000255262	ensembl	human	known	69_37n	silent	56	18.84	13	SNP	0.906	A
NOS1AP	9722	genome.wustl.edu	37	1	162270466	162270466	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:162270466A>T	ENST00000361897.5	+	4	716	c.314A>T	c.(313-315)aAg>aTg	p.K105M	NOS1AP_ENST00000530878.1_Missense_Mutation_p.K100M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	105	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GATGAGAGCAAGATGCTGGTG	0.517																																						dbGAP											0													149.0	141.0	143.0					1																	162270466		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.314A>T	1.37:g.162270466A>T	ENSP00000355133:p.Lys105Met		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.K105M	ENST00000361897.5	37	c.314	CCDS1237.1	1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.025618	0.75390	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.23348	1.91;1.91	5.32	5.32	0.75619	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.046172	0.85682	D	0.000000	T	0.45657	0.1353	M	0.86420	2.815	.	.	.	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.75484	0.979;0.984;0.986	T	0.59408	-0.7460	9	0.87932	D	0	.	11.6759	0.51430	1.0:0.0:0.0:0.0	.	100;100;105	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	M	100;105	ENSP00000431586:K100M;ENSP00000355133:K105M	ENSP00000355133:K105M	K	+	2	0	NOS1AP	160537090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.534000	0.73833	2.009000	0.58944	0.528000	0.53228	AAG	NOS1AP	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000198929		0.517	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOS1AP	HGNC	protein_coding	OTTHUMT00000060555.2	42	0.00	0	A	NM_014697		162270466	162270466	+1	no_errors	ENST00000361897	ensembl	human	known	69_37n	missense	125	11.97	17	SNP	1.000	T
NVL	4931	genome.wustl.edu	37	1	224420957	224420957	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:224420957A>C	ENST00000281701.6	-	21	2660	c.2401T>G	c.(2401-2403)Tct>Gct	p.S801A	NVL_ENST00000482491.1_Missense_Mutation_p.S525A|NVL_ENST00000469075.1_Missense_Mutation_p.S710A|NVL_ENST00000340871.4_Missense_Mutation_p.S612A|NVL_ENST00000391875.2_Missense_Mutation_p.S695A|NVL_ENST00000361463.3_3'UTR	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	801						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GCACAGATAGAAGCTTCTCGT	0.373																																						dbGAP											0													113.0	106.0	108.0					1																	224420957		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.2401T>G	1.37:g.224420957A>C	ENSP00000281701:p.Ser801Ala		B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,smart_AAA+_ATPase	p.S801A	ENST00000281701.6	37	c.2401	CCDS1541.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.728|6.728	0.502997|0.502997	0.12822|0.12822	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000469968|ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871	.|D;D;D;D;D	.|0.97772	.|-4.53;-4.53;-4.53;-4.53;-4.53	5.69|5.69	4.53|4.53	0.55603|0.55603	.|.	.|0.052060	.|0.85682	.|D	.|0.000000	D|D	0.89518|0.89518	0.6738|0.6738	N|N	0.02158|0.02158	-0.66|-0.66	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23891	.|0.008;0.011;0.093	.|B;B;B	.|0.28916	.|0.031;0.039;0.096	D|D	0.84516|0.84516	0.0625|0.0625	5|10	.|0.02654	.|T	.|1	-16.1709|-16.1709	9.6757|9.6757	0.40039|0.40039	0.8248:0.1752:0.0:0.0|0.8248:0.1752:0.0:0.0	.|.	.|612;710;801	.|B4DMC4;B4DP98;O15381	.|.;.;NVL_HUMAN	C|A	683|801;695;710;525;612	.|ENSP00000281701:S801A;ENSP00000375747:S695A;ENSP00000417826:S710A;ENSP00000417213:S525A;ENSP00000341362:S612A	.|ENSP00000281701:S801A	F|S	-|-	2|1	0|0	NVL|NVL	222487580|222487580	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.893000|0.893000	0.52053|0.52053	5.032000|5.032000	0.64140|0.64140	0.950000|0.950000	0.37743|0.37743	0.533000|0.533000	0.62120|0.62120	TTC|TCT	NVL	-	NULL	ENSG00000143748		0.373	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NVL	HGNC	protein_coding	OTTHUMT00000091453.2	69	0.00	0	A	NM_002533		224420957	224420957	-1	no_errors	ENST00000281701	ensembl	human	known	69_37n	missense	162	16.06	31	SNP	0.997	C
OPCML	4978	genome.wustl.edu	37	11	132307135	132307135	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr11:132307135delT	ENST00000331898.7	-	4	1223	c.645delA	c.(643-645)aaafs	p.K215fs	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Frame_Shift_Del_p.K174fs|OPCML_ENST00000524381.1_Frame_Shift_Del_p.K208fs|OPCML_ENST00000541867.1_Frame_Shift_Del_p.K215fs	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	215	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGATTTTTACTTTCCGCACAT	0.547																																						dbGAP											0													130.0	118.0	122.0					11																	132307135		2201	4297	6498	-	-	-	SO:0001589	frameshift_variant	0			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.645delA	11.37:g.132307135delT	ENSP00000330862:p.Lys215fs		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V216fs	ENST00000331898.7	37	c.645	CCDS8492.1	11																																																																																			OPCML	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000183715		0.547	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	50	0.00	0	T	NM_001012393		132307135	132307135	-1	no_errors	ENST00000541867	ensembl	human	known	69_37n	frame_shift_del	68	31.68	32	DEL	1.000	-
OR2T8	343172	genome.wustl.edu	37	1	248084570	248084570	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:248084570T>C	ENST00000319968.4	+	1	251	c.251T>C	c.(250-252)tTg>tCg	p.L84S		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTGACTACTTGACCGGAAGT	0.592																																						dbGAP											0													34.0	33.0	34.0					1																	248084570		2169	4236	6405	-	-	-	SO:0001583	missense	0				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.251T>C	1.37:g.248084570T>C	ENSP00000326225:p.Leu84Ser			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L84S	ENST00000319968.4	37	c.251	CCDS31100.1	1	.	.	.	.	.	.	.	.	.	.	t	14.64	2.595638	0.46318	.	.	ENSG00000177462	ENST00000319968	T	0.00540	6.7	3.81	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.351753	0.15227	U	0.273654	T	0.01976	0.0062	M	0.87381	2.88	0.09310	N	1	D	0.67145	0.996	D	0.63703	0.917	T	0.32455	-0.9906	10	0.87932	D	0	.	7.9573	0.30051	0.0:0.1024:0.0:0.8976	.	84	A6NH00	OR2T8_HUMAN	S	84	ENSP00000326225:L84S	ENSP00000326225:L84S	L	+	2	0	OR2T8	246151193	0.025000	0.19082	0.002000	0.10522	0.002000	0.02628	1.281000	0.33214	0.540000	0.28808	0.491000	0.48974	TTG	OR2T8	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177462		0.592	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	40	0.00	0	T	NM_001005522		248084570	248084570	+1	no_errors	ENST00000319968	ensembl	human	known	69_37n	missense	97	15.65	18	SNP	0.012	C
OR3A4P	390756	genome.wustl.edu	37	17	3214336	3214336	+	RNA	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr17:3214336T>C	ENST00000573491.1	-	0	359																											TCTCCACGTGTAGTTCCCACC	0.572																																						dbGAP											0													150.0	129.0	136.0					17																	3214336		2203	4300	6503	-	-	-			0																															17.37:g.3214336T>C				RNA	SNP	-	NULL	ENST00000573491.1	37	NULL		17																																																																																			OR3A4P	-	-	ENSG00000180068		0.572	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	OR3A4P	HGNC	sense_overlapping	OTTHUMT00000438371.1	69	0.00	0	T			3214336	3214336	+1	no_errors	ENST00000323164	ensembl	human	known	69_37n	rna	89	26.45	32	SNP	0.489	C
OTUD5	55593	genome.wustl.edu	37	X	48780995	48780995	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chrX:48780995G>A	ENST00000156084.4	-	8	1569	c.1509C>T	c.(1507-1509)gcC>gcT	p.A503A	OTUD5_ENST00000428668.2_Silent_p.A281A|OTUD5_ENST00000376488.3_Silent_p.A498A|OTUD5_ENST00000484499.1_5'Flank|OTUD5_ENST00000396743.3_Silent_p.A498A	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	503					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TTGCCCGGTCGGCCCCTGCCG	0.602																																						dbGAP											0													35.0	35.0	35.0					X																	48780995		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.1509C>T	X.37:g.48780995G>A			B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Silent	SNP	pfam_OTU,pfscan_OTU	p.A503	ENST00000156084.4	37	c.1509	CCDS14313.1	X																																																																																			OTUD5	-	NULL	ENSG00000068308		0.602	OTUD5-003	KNOWN	basic|CCDS	protein_coding	OTUD5	HGNC	protein_coding	OTTHUMT00000060799.1	17	0.00	0	G	NM_017602		48780995	48780995	-1	no_errors	ENST00000156084	ensembl	human	known	69_37n	silent	51	16.39	10	SNP	0.565	A
PASD1	139135	genome.wustl.edu	37	X	150789492	150789492	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chrX:150789492C>A	ENST00000370357.4	+	5	543	c.298C>A	c.(298-300)Cta>Ata	p.L100I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	100	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTCCTTTACTAAACTCAGG	0.328																																						dbGAP											0													58.0	60.0	59.0					X																	150789492		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.298C>A	X.37:g.150789492C>A	ENSP00000359382:p.Leu100Ile		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	smart_PAS,pfscan_PAS	p.L100I	ENST00000370357.4	37	c.298	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732603	0.30684	.	.	ENSG00000166049	ENST00000370357	T	0.69306	-0.39	5.23	-8.91	0.00778	PAS (1);	.	.	.	.	T	0.31167	0.0788	N	0.08118	0	0.09310	N	1	B	0.30406	0.278	B	0.22880	0.042	T	0.17410	-1.0370	9	0.38643	T	0.18	-8.6571	0.7003	0.00906	0.3026:0.2821:0.2423:0.173	.	100	Q8IV76	PASD1_HUMAN	I	100	ENSP00000359382:L100I	ENSP00000359382:L100I	L	+	1	2	PASD1	150540148	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.659000	0.05323	-1.150000	0.02840	-0.306000	0.09157	CTA	PASD1	-	pfscan_PAS	ENSG00000166049		0.328	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	43	0.00	0	C	NM_173493		150789492	150789492	+1	no_errors	ENST00000370357	ensembl	human	known	69_37n	missense	39	15.22	7	SNP	0.000	A
PCK2	5106	genome.wustl.edu	37	14	24571997	24571997	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr14:24571997T>C	ENST00000216780.4	+	8	1538	c.1270T>C	c.(1270-1272)Ttt>Ctt	p.F424L	PCK2_ENST00000558096.1_Missense_Mutation_p.F290L|PCK2_ENST00000545054.2_Missense_Mutation_p.F290L|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.F436L|PCK2_ENST00000561286.1_Missense_Mutation_p.F290L	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	424					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CAACTCTCGATTTTGTGCCCC	0.562																																						dbGAP											0													106.0	111.0	109.0					14																	24571997		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1270T>C	14.37:g.24571997T>C	ENSP00000216780:p.Phe424Leu		O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.F424L	ENST00000216780.4	37	c.1270	CCDS9609.1	14	.	.	.	.	.	.	.	.	.	.	T	35	5.437834	0.96168	.	.	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.11712	2.75;2.75	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	H	0.97707	4.06	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.966;0.998;0.998	T	0.66709	-0.5855	10	0.87932	D	0	-15.863	13.8971	0.63778	0.0:0.0:0.0:1.0	.	290;424;424	B4DW73;Q16822;Q6IB91	.;PCKGM_HUMAN;.	L	424;290	ENSP00000216780:F424L;ENSP00000441826:F290L	ENSP00000216780:F424L	F	+	1	0	PCK2	23641837	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.607000	0.82883	2.177000	0.69029	0.533000	0.62120	TTT	PCK2	-	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP	ENSG00000100889		0.562	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3	41	0.00	0	T	NM_001018073		24571997	24571997	+1	no_errors	ENST00000216780	ensembl	human	known	69_37n	missense	59	31.40	27	SNP	1.000	C
PDE3A	5139	genome.wustl.edu	37	12	20806958	20806958	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:20806958G>T	ENST00000359062.3	+	15	3043	c.3003G>T	c.(3001-3003)caG>caT	p.Q1001H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1001	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCAACCTTCAGGAATCCTTCA	0.493																																						dbGAP											0													93.0	86.0	88.0					12																	20806958		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3003G>T	12.37:g.20806958G>T	ENSP00000351957:p.Gln1001His		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.Q1001H	ENST00000359062.3	37	c.3003	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175840	0.78564	.	.	ENSG00000172572	ENST00000359062	D	0.86956	-2.19	5.31	5.31	0.75309	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95812	0.8637	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96778	0.9573	10	0.87932	D	0	.	19.3412	0.94342	0.0:0.0:1.0:0.0	.	1001	Q14432	PDE3A_HUMAN	H	1001	ENSP00000351957:Q1001H	ENSP00000351957:Q1001H	Q	+	3	2	PDE3A	20698225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.391000	0.59652	2.657000	0.90304	0.655000	0.94253	CAG	PDE3A	-	pfam_PDEase_catalytic_dom	ENSG00000172572		0.493	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	39	0.00	0	G			20806958	20806958	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	missense	107	12.20	15	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	63	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	74	25.25	25	SNP	1.000	A
PIGZ	80235	genome.wustl.edu	37	3	196675068	196675068	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:196675068C>T	ENST00000412723.1	-	3	846	c.700G>A	c.(700-702)Gct>Act	p.A234T	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	234					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GGGACCACAGCAAAGGCCAGA	0.652																																						dbGAP											0													46.0	55.0	52.0					3																	196675068		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.700G>A	3.37:g.196675068C>T	ENSP00000413405:p.Ala234Thr		Q9H9G6	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.A234T	ENST00000412723.1	37	c.700	CCDS3324.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437031	0.83885	.	.	ENSG00000119227	ENST00000412723	T	0.63096	-0.02	4.94	4.94	0.65067	.	0.000000	0.52532	D	0.000076	T	0.81522	0.4840	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.82697	-0.0329	10	0.40728	T	0.16	-2.0265	17.5306	0.87813	0.0:1.0:0.0:0.0	.	234	Q86VD9	PIGZ_HUMAN	T	234	ENSP00000413405:A234T	ENSP00000413405:A234T	A	-	1	0	PIGZ	198159465	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.029000	0.64121	2.464000	0.83262	0.549000	0.68633	GCT	PIGZ	-	pfam_GPI_mannosylTrfase	ENSG00000119227		0.652	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGZ	HGNC	protein_coding	OTTHUMT00000340486.2	24	0.00	0	C	NM_025163		196675068	196675068	-1	no_errors	ENST00000412723	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	1.000	T
PIKFYVE	200576	genome.wustl.edu	37	2	209136299	209136299	+	Missense_Mutation	SNP	G	G	A	rs369920151		TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:209136299G>A	ENST00000264380.4	+	2	214	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.R19Q|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.R19Q|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R19Q	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	19					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATTTGCCTCGATCTCCTACT	0.388																																						dbGAP											0													261.0	249.0	253.0					2																	209136299		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.56G>A	2.37:g.209136299G>A	ENSP00000264380:p.Arg19Gln		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.R19Q	ENST00000264380.4	37	c.56	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837339	0.50951	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000422495;ENST00000452564	T;T;T;T	0.63580	1.66;-0.05;-0.03;1.83	5.23	2.32	0.28847	.	0.467941	0.21259	N	0.077507	T	0.36771	0.0979	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B;B	0.30193	0.082;0.056;0.093;0.178;0.272	B;B;B;B;B	0.20955	0.014;0.015;0.019;0.008;0.032	T	0.13229	-1.0517	10	0.27082	T	0.32	-0.3276	6.9762	0.24677	0.1526:0.2988:0.5485:0.0	.	19;19;19;19;19	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	Q	19	ENSP00000264380:R19Q;ENSP00000384356:R19Q;ENSP00000414477:R19Q;ENSP00000405736:R19Q	ENSP00000264380:R19Q	R	+	2	0	PIKFYVE	208844544	0.000000	0.05858	0.908000	0.35775	0.941000	0.58515	0.052000	0.14163	0.168000	0.19655	0.655000	0.94253	CGA	PIKFYVE	-	NULL	ENSG00000115020		0.388	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	91	0.00	0	G	NM_015040		209136299	209136299	+1	no_errors	ENST00000264380	ensembl	human	known	69_37n	missense	234	10.98	29	SNP	0.590	A
PLXNA4	91584	genome.wustl.edu	37	7	132192921	132192921	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr7:132192921T>C	ENST00000359827.3	-	2	1494	c.532A>G	c.(532-534)Aac>Gac	p.N178D	PLXNA4_ENST00000378539.5_Missense_Mutation_p.N178D|PLXNA4_ENST00000423507.2_Missense_Mutation_p.N178D|PLXNA4_ENST00000321063.4_Missense_Mutation_p.N178D			Q9HCM2	PLXA4_HUMAN	plexin A4	178	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCATCCAGGTTGCTGTAGGAG	0.537																																						dbGAP											0													125.0	112.0	116.0					7																	132192921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.532A>G	7.37:g.132192921T>C	ENSP00000352882:p.Asn178Asp		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.N178D	ENST00000359827.3	37	c.532	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	T	7.574	0.667350	0.14710	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.26	4.1	0.47936	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.156064	0.38381	U	0.001717	T	0.02807	0.0084	N	0.12637	0.245	0.43412	D	0.995558	B;B;B	0.13145	0.001;0.007;0.001	B;B;B	0.15052	0.003;0.012;0.003	T	0.41963	-0.9479	10	0.08837	T	0.75	.	10.8468	0.46746	0.0:0.0745:0.0:0.9255	.	178;178;178	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	D	178	ENSP00000323194:N178D;ENSP00000352882:N178D;ENSP00000392772:N178D;ENSP00000367800:N178D	ENSP00000323194:N178D	N	-	1	0	PLXNA4	131843461	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.781000	0.55394	0.852000	0.35287	0.379000	0.24179	AAC	PLXNA4	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000221866		0.537	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	50	0.00	0	T	NM_181775		132192921	132192921	-1	no_errors	ENST00000321063	ensembl	human	known	69_37n	missense	92	10.68	11	SNP	1.000	C
POTED	317754	genome.wustl.edu	37	21	15013685	15013687	+	In_Frame_Del	DEL	AAG	AAG	-	rs564516316	byFrequency	TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr21:15013685_15013687delAAG	ENST00000299443.5	+	11	1605_1607	c.1553_1555delAAG	c.(1552-1557)aaagaa>aaa	p.E520del		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	520						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGTCATAAGAAAGAAGAAGATCT	0.345														2	0.000399361	0.0015	0.0	5008	,	,		8085	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1553_1555delAAG	21.37:g.15013691_15013693delAAG	ENSP00000299443:p.Glu520del		C9JCF7	In_Frame_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E520in_frame_del	ENST00000299443.5	37	c.1553_1555	CCDS13562.1	21																																																																																			POTED	-	NULL	ENSG00000166351		0.345	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTED	HGNC	protein_coding	OTTHUMT00000157660.1	74	0.00	0	AAG	NM_174981		15013685	15013687	+1	no_errors	ENST00000299443	ensembl	human	known	69_37n	in_frame_del	137	33.82	70	DEL	0.464:0.557:0.573	-
PRRC2B	84726	genome.wustl.edu	37	9	134350103	134350103	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr9:134350103G>A	ENST00000357304.4	+	15	2642	c.2587G>A	c.(2587-2589)Gag>Aag	p.E863K	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	863							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGTCCCAGATGAGAAAAAGCC	0.572																																						dbGAP											0													20.0	22.0	22.0					9																	134350103		1984	4176	6160	-	-	-	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2587G>A	9.37:g.134350103G>A	ENSP00000349856:p.Glu863Lys		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.E863K	ENST00000357304.4	37	c.2587	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952703	0.53293	.	.	ENSG00000130723	ENST00000357304;ENST00000418650;ENST00000456307	T;T	0.10005	2.92;2.92	5.5	5.5	0.81552	.	.	.	.	.	T	0.07818	0.0196	N	0.19112	0.55	0.80722	D	1	P;B	0.35272	0.493;0.181	B;B	0.34242	0.178;0.024	T	0.14117	-1.0484	9	0.06494	T	0.89	.	18.3886	0.90474	0.0:0.0:1.0:0.0	.	159;863	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	K	863;159;132	ENSP00000349856:E863K;ENSP00000400608:E132K	ENSP00000349856:E863K	E	+	1	0	PRRC2B	133339924	1.000000	0.71417	0.944000	0.38274	0.994000	0.84299	4.913000	0.63341	2.577000	0.86979	0.655000	0.94253	GAG	PRRC2B	-	NULL	ENSG00000130723		0.572	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		21	0.00	0	G			134350103	134350103	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	0.991	A
GBGT1	26301	genome.wustl.edu	37	9	136031465	136031465	+	Intron	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr9:136031465G>T	ENST00000372040.3	-	4	449				GBGT1_ENST00000372038.3_Nonsense_Mutation_p.C54*|GBGT1_ENST00000540636.1_Intron|GBGT1_ENST00000472281.1_Intron|GBGT1_ENST00000372043.3_Intron|RALGDS_ENST00000542690.1_Nonsense_Mutation_p.C54*	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1						glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GGTGGCAGAGGCAAGAAAGAG	0.577																																						dbGAP											0													114.0	93.0	100.0					9																	136031465		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.138-13C>A	9.37:g.136031465G>T			A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.C54*	ENST00000372040.3	37	c.162	CCDS6960.1	9	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751257	0.89753	.	.	ENSG00000160271;ENSG00000148288	ENST00000542690;ENST00000372038	.	.	.	4.37	-2.13	0.07144	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8863	0.35404	0.5782:0.0:0.4218:0.0	.	.	.	.	X	54	.	ENSP00000361108:C54X	C	-	3	2	GBGT1;RALGDS	135021286	0.007000	0.16637	0.000000	0.03702	0.304000	0.27724	-0.006000	0.12833	-0.457000	0.07033	-0.142000	0.14014	TGC	RALGDS	-	NULL	ENSG00000160271		0.577	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054815.1	59	0.00	0	G	NM_021996		136031465	136031465	-1	no_errors	ENST00000542690	ensembl	human	known	69_37n	nonsense	130	11.56	17	SNP	0.000	T
RB1CC1	9821	genome.wustl.edu	37	8	53548623	53548623	+	Silent	SNP	A	A	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr8:53548623A>G	ENST00000025008.5	-	19	4867	c.4344T>C	c.(4342-4344)aaT>aaC	p.N1448N	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.N1448N|RB1CC1_ENST00000435644.2_Silent_p.N1448N	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1448					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACATATGAATATTTTCTCTAA	0.259																																					GBM(180;1701 2102 13475 42023 52570)	dbGAP											0													49.0	49.0	49.0					8																	53548623		2199	4269	6468	-	-	-	SO:0001819	synonymous_variant	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4344T>C	8.37:g.53548623A>G			Q86YR4|Q8WVU9|Q92601	Silent	SNP	pfam_Autophagy-rel_p11	p.N1448	ENST00000025008.5	37	c.4344	CCDS34892.1	8																																																																																			RB1CC1	-	NULL	ENSG00000023287		0.259	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	44	0.00	0	A	NM_014781		53548623	53548623	-1	no_errors	ENST00000025008	ensembl	human	known	69_37n	silent	72	36.84	42	SNP	0.430	G
RFX3	5991	genome.wustl.edu	37	9	3225066	3225066	+	Silent	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr9:3225066T>C	ENST00000382004.3	-	18	2537	c.2226A>G	c.(2224-2226)acA>acG	p.T742T		NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	742					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AGGTATTTCCTGTAGCGCTGC	0.423																																						dbGAP											0													130.0	119.0	123.0					9																	3225066		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.2226A>G	9.37:g.3225066T>C			A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.T742	ENST00000382004.3	37	c.2226	CCDS6449.1	9																																																																																			RFX3	-	NULL	ENSG00000080298		0.423	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	68	0.00	0	T	NM_002919		3225066	3225066	-1	no_errors	ENST00000382004	ensembl	human	known	69_37n	silent	106	17.19	22	SNP	0.778	C
RGL3	57139	genome.wustl.edu	37	19	11527722	11527722	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr19:11527722G>A	ENST00000380456.3	-	3	222	c.159C>T	c.(157-159)ccC>ccT	p.P53P	RGL3_ENST00000393423.3_Silent_p.P53P	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	53					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TATTGGCAATGGGGCTGGGAG	0.597																																					GBM(174;751 2067 17998 27979 33959)	dbGAP											0													26.0	28.0	27.0					19																	11527722		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.159C>T	19.37:g.11527722G>A			B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	p.H52Y	ENST00000380456.3	37	c.154	CCDS32910.1	19																																																																																			RGL3	-	superfamily_Ras_GEF_dom	ENSG00000205517		0.597	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL3	HGNC	protein_coding	OTTHUMT00000421208.3	21	0.00	0	G	XM_290867		11527722	11527722	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000562663	ensembl	human	known	69_37n	missense	37	35.09	20	SNP	0.000	A
RNF17	56163	genome.wustl.edu	37	13	25399899	25399899	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr13:25399899C>G	ENST00000255324.5	+	16	2286	c.2234C>G	c.(2233-2235)gCa>gGa	p.A745G	RNF17_ENST00000381921.1_Missense_Mutation_p.A745G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	745	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGGTACCGAGCAAAAGTTATC	0.368																																						dbGAP											0													103.0	99.0	100.0					13																	25399899		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2234C>G	13.37:g.25399899C>G	ENSP00000255324:p.Ala745Gly		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.A745G	ENST00000255324.5	37	c.2234	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373588	0.61624	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.20200	2.09;2.09;2.09	4.69	4.69	0.59074	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.313127	0.29293	N	0.012578	T	0.46034	0.1372	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.37731	-0.9693	10	0.40728	T	0.16	.	14.9003	0.70672	0.0:1.0:0.0:0.0	.	745;745	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	G	745;745;604;69	ENSP00000255324:A745G;ENSP00000371346:A745G;ENSP00000388892:A69G	ENSP00000255324:A745G	A	+	2	0	RNF17	24297899	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.572000	0.60886	2.312000	0.78011	0.491000	0.48974	GCA	RNF17	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000132972		0.368	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	48	0.00	0	C	NM_031994		25399899	25399899	+1	no_errors	ENST00000255324	ensembl	human	known	69_37n	missense	53	27.40	20	SNP	1.000	G
RNF213	57674	genome.wustl.edu	37	17	78311392	78311392	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr17:78311392T>C	ENST00000582970.1	+	24	4677	c.4534T>C	c.(4534-4536)Tcc>Ccc	p.S1512P	RNF213_ENST00000336301.6_5'Flank|RNF213_ENST00000508628.2_Missense_Mutation_p.S1561P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1512					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATAGTGTGACTCCGCCAGGAA	0.592																																						dbGAP											0													49.0	43.0	45.0					17																	78311392		692	1591	2283	-	-	-	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.4534T>C	17.37:g.78311392T>C	ENSP00000464087:p.Ser1512Pro		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S1512P	ENST00000582970.1	37	c.4534	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480199	0.26598	.	.	ENSG00000173821	ENST00000508628;ENST00000411702	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	T	0.65831	0.2729	L	0.50333	1.59	0.80722	D	1	.	.	.	.	.	.	T	0.69030	-0.5253	6	0.72032	D	0.01	.	15.1561	0.72743	0.0:0.0:0.0:1.0	.	.	.	.	P	1512;1561	.	ENSP00000396478:S1561P	S	+	1	0	RNF213	75925987	1.000000	0.71417	0.898000	0.35279	0.337000	0.28794	4.695000	0.61767	1.998000	0.58463	0.459000	0.35465	TCC	RNF213	-	NULL	ENSG00000173821		0.592	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	21	0.00	0	T	NM_020914		78311392	78311392	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	1.000	C
ROCK1	6093	genome.wustl.edu	37	18	18572891	18572891	+	Silent	SNP	A	A	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr18:18572891A>G	ENST00000399799.2	-	17	2833	c.1893T>C	c.(1891-1893)atT>atC	p.I631I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	631	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GTAAAGATGTAATTCGAGCTA	0.323																																						dbGAP											0													82.0	74.0	77.0					18																	18572891		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1893T>C	18.37:g.18572891A>G			B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.I631	ENST00000399799.2	37	c.1893	CCDS11870.2	18																																																																																			ROCK1	-	pirsf_Rho-assoc_coiled-coil_kinase	ENSG00000067900		0.323	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	89	0.00	0	A	NM_005406		18572891	18572891	-1	no_errors	ENST00000399799	ensembl	human	known	69_37n	silent	133	30.37	58	SNP	1.000	G
RUFY3	22902	genome.wustl.edu	37	4	71650590	71650591	+	Missense_Mutation	DNP	AC	AC	TA			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr4:71650590_71650591AC>TA	ENST00000226328.4	+	10	1628_1629	c.1065_1066AC>TA	c.(1063-1068)ttACga>ttTAga	p.L355F	RUFY3_ENST00000381006.3_Missense_Mutation_p.L355F|RUFY3_ENST00000417478.2_Missense_Mutation_p.L415F|RUFY3_ENST00000536664.1_Missense_Mutation_p.L339F|RUFY3_ENST00000502653.1_Missense_Mutation_p.L302F	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	355					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGACACAATTACGATTGGTAAA	0.347																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	Exception_encountered	4.37:g.71650590_71650591delinsTA	ENSP00000226328:p.Leu355Phe		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation|Silent	SNP	pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.L415F|p.R416	ENST00000226328.4	37	c.1245|c.1246	CCDS3547.1	4																																																																																			RUFY3	-	NULL	ENSG00000018189		0.347	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2	39	0.00	0	A|C	NM_014961		71650590|71650591	71650590|71650591	+1	no_errors	ENST00000417478	ensembl	human	known	69_37n	missense|silent	79|81	18.37|17.35	18|17	SNP	0.896|0.997	T|A
SCAF1	58506	genome.wustl.edu	37	19	50154334	50154334	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr19:50154334C>G	ENST00000360565.3	+	7	812	c.688C>G	c.(688-690)Ccc>Gcc	p.P230A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	230	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TATCTATGACCCCTTCCACCC	0.667																																						dbGAP											0													35.0	36.0	36.0					19																	50154334		2200	4297	6497	-	-	-	SO:0001583	missense	0			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.688C>G	19.37:g.50154334C>G	ENSP00000353769:p.Pro230Ala		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	NULL	p.P230A	ENST00000360565.3	37	c.688	CCDS33074.1	19	.	.	.	.	.	.	.	.	.	.	c	10.88	1.475213	0.26511	.	.	ENSG00000126461	ENST00000360565	T	0.62232	0.04	4.25	4.25	0.50352	.	0.304163	0.18231	N	0.147566	T	0.67107	0.2858	N	0.24115	0.695	0.43246	D	0.995166	D	0.76494	0.999	D	0.83275	0.996	T	0.65142	-0.6240	9	.	.	.	-9.6333	15.9918	0.80211	0.0:1.0:0.0:0.0	.	230	Q9H7N4	SFR19_HUMAN	A	230	ENSP00000353769:P230A	.	P	+	1	0	SCAF1	54846146	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	3.533000	0.53561	2.364000	0.80123	0.645000	0.84053	CCC	SCAF1	-	NULL	ENSG00000126461		0.667	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1	8	0.00	0	C	NM_021228		50154334	50154334	+1	no_errors	ENST00000360565	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	1.000	G
SEPT14	346288	genome.wustl.edu	37	7	55912240	55912240	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr7:55912240C>T	ENST00000388975.3	-	4	463	c.347G>A	c.(346-348)gGt>gAt	p.G116D	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	116	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATTTGATCACCATACCCTAC	0.328																																						dbGAP											0													179.0	170.0	173.0					7																	55912240		1825	4088	5913	-	-	-	SO:0001583	missense	0			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.347G>A	7.37:g.55912240C>T	ENSP00000373627:p.Gly116Asp		A6NCC2|B4DXD6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.G116D	ENST00000388975.3	37	c.347	CCDS5519.2	7	.	.	.	.	.	.	.	.	.	.	c	17.53	3.413649	0.62511	.	.	ENSG00000154997	ENST00000388975	T	0.75367	-0.93	3.93	3.93	0.45458	.	0.000000	0.53938	D	0.000049	D	0.90431	0.7004	H	0.97611	4.04	0.50632	D	0.999887	D	0.89917	1.0	D	0.79784	0.993	D	0.93618	0.6945	10	0.87932	D	0	.	14.249	0.66007	0.0:1.0:0.0:0.0	.	116	Q6ZU15	SEP14_HUMAN	D	116	ENSP00000373627:G116D	ENSP00000373627:G116D	G	-	2	0	SEPT14	55879734	1.000000	0.71417	0.995000	0.50966	0.331000	0.28603	6.488000	0.73637	2.117000	0.64856	0.655000	0.94253	GGT	SEPT14	-	pfam_Cell_div_GTP-bd,pirsf_Septin	ENSG00000154997		0.328	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	61	0.00	0	C	NM_207366		55912240	55912240	-1	no_errors	ENST00000388975	ensembl	human	known	69_37n	missense	134	29.84	57	SNP	1.000	T
SI	6476	genome.wustl.edu	37	3	164735432	164735432	+	Silent	SNP	A	A	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:164735432A>G	ENST00000264382.3	-	31	3725	c.3663T>C	c.(3661-3663)taT>taC	p.Y1221Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1221	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)	CCAAAGCCCAATAAGCTGGCA	0.338										HNSCC(35;0.089)																												dbGAP											0													56.0	54.0	55.0					3																	164735432		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			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.3663T>C	3.37:g.164735432A>G			A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.Y1221	ENST00000264382.3	37	c.3663	CCDS3196.1	3																																																																																			SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	40	0.00	0	A	NM_001041		164735432	164735432	-1	no_errors	ENST00000264382	ensembl	human	known	69_37n	silent	79	15.05	14	SNP	0.996	G
SLC10A7	84068	genome.wustl.edu	37	4	147431152	147431152	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr4:147431152A>G	ENST00000507030.1	-	3	232	c.233T>C	c.(232-234)aTc>aCc	p.I78T	SLC10A7_ENST00000335472.7_Missense_Mutation_p.I78T|SLC10A7_ENST00000394059.4_Missense_Mutation_p.I78T|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394062.3_Missense_Mutation_p.I78T|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000432059.2_Missense_Mutation_p.I78T			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	78					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAGAGTAAAGATCTGAATAAA	0.348																																						dbGAP											0													83.0	85.0	84.0					4																	147431152		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.233T>C	4.37:g.147431152A>G	ENSP00000421275:p.Ile78Thr		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr	p.I78T	ENST00000507030.1	37	c.233	CCDS34073.1	4	.	.	.	.	.	.	.	.	.	.	A	9.432	1.085809	0.20390	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062;ENST00000394059	.	.	.	5.47	5.47	0.80525	.	0.147467	0.64402	D	0.000013	T	0.26666	0.0652	N	0.01789	-0.72	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.003;0.002	T	0.15435	-1.0437	9	0.19147	T	0.46	-12.4907	14.4131	0.67128	1.0:0.0:0.0:0.0	.	78;78;78;78	Q0GE19-3;Q0GE19;Q0GE19-5;Q0GE19-2	.;NTCP7_HUMAN;.;.	T	78	.	ENSP00000334594:I78T	I	-	2	0	SLC10A7	147650602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.994000	0.56994	2.203000	0.70933	0.533000	0.62120	ATC	SLC10A7	-	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr	ENSG00000120519		0.348	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	SLC10A7	HGNC	protein_coding	OTTHUMT00000366932.1	47	0.00	0	A	NM_032128		147431152	147431152	-1	no_errors	ENST00000394062	ensembl	human	known	69_37n	missense	59	14.49	10	SNP	1.000	G
SLC12A8	84561	genome.wustl.edu	37	3	124826747	124826747	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:124826747T>C	ENST00000393469.4	-	9	1332	c.1283A>G	c.(1282-1284)cAc>cGc	p.H428R	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.H181R|SLC12A8_ENST00000430155.2_Missense_Mutation_p.H229R|SLC12A8_ENST00000423114.2_Missense_Mutation_p.H457R|SLC12A8_ENST00000469902.1_Missense_Mutation_p.H428R	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	428					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						CTCAGAGCAGTGGAGGCCTTC	0.587																																						dbGAP											0													50.0	52.0	51.0					3																	124826747		1995	4167	6162	-	-	-	SO:0001583	missense	0				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1283A>G	3.37:g.124826747T>C	ENSP00000377112:p.His428Arg		C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1	p.H457R	ENST00000393469.4	37	c.1370	CCDS43143.1	3	.	.	.	.	.	.	.	.	.	.	T	5.584	0.292510	0.10567	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584	D;D;D;D;T	0.87809	-1.81;-2.29;-2.3;-2.29;-1.41	5.06	1.42	0.22433	.	.	.	.	.	T	0.79930	0.4531	L	0.51422	1.61	0.23969	N	0.996315	B;B;B;B	0.18461	0.007;0.001;0.001;0.028	B;B;B;B	0.18561	0.005;0.004;0.002;0.022	T	0.64626	-0.6363	9	0.31617	T	0.26	.	3.4141	0.07369	0.2727:0.2073:0.0:0.52	.	181;457;428;229	A0AV02-4;A0AV02-2;A0AV02;A0AV02-3	.;.;S12A8_HUMAN;.	R	229;428;457;428;181	ENSP00000415713:H229R;ENSP00000377112:H428R;ENSP00000404243:H457R;ENSP00000418783:H428R;ENSP00000323632:H181R	ENSP00000323632:H181R	H	-	2	0	SLC12A8	126309437	0.000000	0.05858	0.407000	0.26434	0.058000	0.15608	-0.627000	0.05521	0.466000	0.27193	0.533000	0.62120	CAC	SLC12A8	-	NULL	ENSG00000221955		0.587	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A8	HGNC	protein_coding	OTTHUMT00000355711.4	23	0.00	0	T	NM_024628		124826747	124826747	-1	no_errors	ENST00000423114	ensembl	human	known	69_37n	missense	37	31.48	17	SNP	0.651	C
SLC7A5	8140	genome.wustl.edu	37	16	87874747	87874747	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr16:87874747G>C	ENST00000261622.4	-	3	744	c.679C>G	c.(679-681)Cta>Gta	p.L227V	SLC7A5_ENST00000565644.1_De_novo_Start_OutOfFrame	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	227					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	TTGGGATCTAGATTGGACACA	0.488																																						dbGAP											0													152.0	137.0	142.0					16																	87874747		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.679C>G	16.37:g.87874747G>C	ENSP00000261622:p.Leu227Val		Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.L227V	ENST00000261622.4	37	c.679	CCDS10964.1	16	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309839	0.60414	.	.	ENSG00000103257	ENST00000261622	D	0.90004	-2.6	5.0	3.0	0.34707	Amino acid permease domain (1);	0.315206	0.28338	N	0.015710	D	0.92156	0.7513	M	0.83603	2.65	0.58432	D	0.999999	D	0.59767	0.986	P	0.55749	0.783	D	0.92286	0.5837	10	0.72032	D	0.01	.	10.7965	0.46464	0.1575:0.0:0.8425:0.0	.	227	Q01650	LAT1_HUMAN	V	227	ENSP00000261622:L227V	ENSP00000261622:L227V	L	-	1	2	SLC7A5	86432248	1.000000	0.71417	0.988000	0.46212	0.533000	0.34776	7.184000	0.77705	1.102000	0.41551	0.561000	0.74099	CTA	SLC7A5	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000103257		0.488	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A5	HGNC	protein_coding	OTTHUMT00000269110.2	58	0.00	0	G	NM_003486		87874747	87874747	-1	no_errors	ENST00000261622	ensembl	human	known	69_37n	missense	141	11.32	18	SNP	0.982	C
MTCL1	23255	genome.wustl.edu	37	18	8796352	8796352	+	Silent	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr18:8796352C>A	ENST00000306329.11	+	7	3090	c.3090C>A	c.(3088-3090)ctC>ctA	p.L1030L	SOGA2_ENST00000306285.7_Silent_p.L26L|SOGA2_ENST00000518815.1_Silent_p.L26L|SOGA2_ENST00000400050.3_Silent_p.L670L|SOGA2_ENST00000517570.1_Silent_p.L670L|SOGA2_ENST00000359865.3_Silent_p.L711L																							AGCAGGAGCTCCGGTCCTTGA	0.522																																						dbGAP											0													126.0	117.0	120.0					18																	8796352		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000306329.11:c.3090C>A	18.37:g.8796352C>A				Silent	SNP	pfam_DUF3166	p.L711	ENST00000306329.11	37	c.2133		18																																																																																			SOGA2	-	NULL	ENSG00000168502		0.522	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	40	0.00	0	C			8796352	8796352	+1	no_errors	ENST00000359865	ensembl	human	known	69_37n	silent	93	14.68	16	SNP	0.066	A
SPOPL	339745	genome.wustl.edu	37	2	139316724	139316724	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:139316724T>C	ENST00000280098.4	+	6	992	c.613T>C	c.(613-615)Ttc>Ctc	p.F205L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	205	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CTGCAGTTTTTTCGTGAGAGG	0.348																																						dbGAP											0													105.0	116.0	113.0					2																	139316724		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.613T>C	2.37:g.139316724T>C	ENSP00000280098:p.Phe205Leu			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.F205L	ENST00000280098.4	37	c.613	CCDS33298.1	2	.	.	.	.	.	.	.	.	.	.	T	7.843	0.722297	0.15372	.	.	ENSG00000144228	ENST00000280098	T	0.64618	-0.11	5.06	5.06	0.68205	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.213803	0.50627	D	0.000112	T	0.29355	0.0731	N	0.00996	-1.065	0.39060	D	0.9605	B	0.06786	0.001	B	0.12156	0.007	T	0.28776	-1.0033	9	.	.	.	-14.4286	10.9515	0.47332	0.14:0.0:0.0:0.86	.	205	Q6IQ16	SPOPL_HUMAN	L	205	ENSP00000280098:F205L	.	F	+	1	0	SPOPL	139033194	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.139000	0.58024	2.022000	0.59522	0.482000	0.46254	TTC	SPOPL	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000144228		0.348	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1	70	0.00	0	T			139316724	139316724	+1	no_errors	ENST00000280098	ensembl	human	known	69_37n	missense	106	13.11	16	SNP	1.000	C
SRP54	6729	genome.wustl.edu	37	14	35488263	35488263	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr14:35488263A>C	ENST00000556994.1	+	14	1536	c.1139A>C	c.(1138-1140)gAt>gCt	p.D380A	SRP54_ENST00000546080.1_Missense_Mutation_p.D331A|SRP54_ENST00000216774.6_Missense_Mutation_p.D380A|SRP54_ENST00000555557.1_Missense_Mutation_p.D316A			P61011	SRP54_HUMAN	signal recognition particle 54kDa	380	M-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ACAATAATGGATAGTATGAAT	0.378																																						dbGAP											0													92.0	89.0	90.0					14																	35488263		2203	4300	6503	-	-	-	SO:0001583	missense	0			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.1139A>C	14.37:g.35488263A>C	ENSP00000451818:p.Asp380Ala		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	pfam_Signal_recog_part_SRP54_GTPase,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_Cbl_biosynth_CobW-like,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase,tigrfam_Signal_recog_particle_SRP54	p.D380A	ENST00000556994.1	37	c.1139	CCDS9652.1	14	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266895	0.80469	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.45	5.45	0.79879	Signal recognition particle, SRP54 subunit, M-domain (3);	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	H	0.96970	3.915	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.59487	0.775;0.858	D	0.89946	0.4076	9	0.49607	T	0.09	-24.8603	15.5161	0.75826	1.0:0.0:0.0:0.0	.	331;380	B4DUW6;P61011	.;SRP54_HUMAN	A	380;380;331;316	.	ENSP00000216774:D380A	D	+	2	0	SRP54	34558014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.313000	0.96297	2.062000	0.61559	0.482000	0.46254	GAT	SRP54	-	pfam_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particle_SRP54_M,tigrfam_Signal_recog_particle_SRP54	ENSG00000100883		0.378	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP54	HGNC	protein_coding	OTTHUMT00000276643.2	58	0.00	0	A	NM_003136		35488263	35488263	+1	no_errors	ENST00000216774	ensembl	human	known	69_37n	missense	164	15.03	29	SNP	1.000	C
STAT3	6774	genome.wustl.edu	37	17	40481654	40481654	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr17:40481654A>T	ENST00000264657.5	-	13	1463	c.1151T>A	c.(1150-1152)tTt>tAt	p.F384Y	STAT3_ENST00000585517.1_Missense_Mutation_p.F384Y|STAT3_ENST00000404395.3_Missense_Mutation_p.F384Y|STAT3_ENST00000588969.1_Missense_Mutation_p.F384Y|STAT3_ENST00000389272.3_Missense_Mutation_p.F286Y	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	384			F -> L (in AD-HIES). {ECO:0000269|PubMed:17881745}.|F -> S (in AD-HIES). {ECO:0000269|PubMed:17881745}.		acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CAGAATGTTAAATTTCCGGGA	0.458									Hyperimmunoglobulin E Recurrent Infection Syndrome																													dbGAP											0			GRCh37	CM076549	STAT3	M							122.0	119.0	120.0					17																	40481654		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1151T>A	17.37:g.40481654A>T	ENSP00000264657:p.Phe384Tyr		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.F384Y	ENST00000264657.5	37	c.1151	CCDS32656.1	17	.	.	.	.	.	.	.	.	.	.	A	35	5.500114	0.96355	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88741	-2.42;-2.42;-2.42	5.84	5.84	0.93424	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	M	0.68317	2.08	0.80722	D	1	D;D;D	0.59357	0.982;0.985;0.985	D;D;D	0.74348	0.971;0.983;0.983	D	0.91371	0.5119	10	0.23302	T	0.38	-22.0865	16.2167	0.82231	1.0:0.0:0.0:0.0	.	384;384;384	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	Y	384;286;384	ENSP00000264657:F384Y;ENSP00000373923:F286Y;ENSP00000384943:F384Y	ENSP00000264657:F384Y	F	-	2	0	STAT3	37735180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.231000	0.72958	0.533000	0.62120	TTT	STAT3	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000168610		0.458	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	83	0.00	0	A	NM_139276, NM_003150		40481654	40481654	-1	no_errors	ENST00000264657	ensembl	human	known	69_37n	missense	72	46.67	63	SNP	1.000	T
SUV420H1	51111	genome.wustl.edu	37	11	67947667	67947667	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr11:67947667G>A	ENST00000304363.4	-	4	662	c.309C>T	c.(307-309)agC>agT	p.S103S	SUV420H1_ENST00000402185.2_Intron|SUV420H1_ENST00000401547.2_Splice_Site_p.S103S|SUV420H1_ENST00000402789.1_Splice_Site_p.S103S|SUV420H1_ENST00000405515.1_Splice_Site_p.S103S	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	103					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						aaggaaaggcgctatataaat	0.323																																						dbGAP											0													48.0	45.0	46.0					11																	67947667		2200	4294	6494	-	-	-	SO:0001630	splice_region_variant	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.309-1C>T	11.37:g.67947667G>A			B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.S103	ENST00000304363.4	37	c.309	CCDS31623.1	11																																																																																			SUV420H1	-	NULL	ENSG00000110066		0.323	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	43	0.00	0	G	NM_017635	Silent	67947667	67947667	-1	no_errors	ENST00000304363	ensembl	human	known	69_37n	silent	44	41.56	32	SNP	1.000	A
SYNM	23336	genome.wustl.edu	37	15	99673182	99673182	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr15:99673182G>A	ENST00000560674.1	+	5	3292	c.2823G>A	c.(2821-2823)agG>agA	p.R941R	SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Silent_p.R1538R|SYNM_ENST00000328642.7_Silent_p.R1226R			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1539	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TAGACCAAAGGTCGGTGATTT	0.478																																					Pancreas(125;1071 1762 21750 40003 40381)	dbGAP											0													63.0	65.0	64.0					15																	99673182		1952	4137	6089	-	-	-	SO:0001819	synonymous_variant	0			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2823G>A	15.37:g.99673182G>A			A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	pfam_F	p.R1538	ENST00000560674.1	37	c.4614		15																																																																																			SYNM	-	NULL	ENSG00000182253		0.478	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	28	0.00	0	G	NM_145728		99673182	99673182	+1	no_errors	ENST00000336292	ensembl	human	known	69_37n	silent	31	26.19	11	SNP	1.000	A
SYNRG	11276	genome.wustl.edu	37	17	35902621	35902621	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr17:35902621A>T	ENST00000339208.6	-	15	2795	c.2655T>A	c.(2653-2655)aaT>aaA	p.N885K	SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000394378.2_Missense_Mutation_p.N807K|SYNRG_ENST00000346661.4_Missense_Mutation_p.N885K|SYNRG_ENST00000345615.4_Missense_Mutation_p.N807K|SYNRG_ENST00000585472.1_Missense_Mutation_p.N806K	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	885					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCACTGCAAAATTGCTACTGT	0.433																																						dbGAP											0													64.0	65.0	64.0					17																	35902621		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2655T>A	17.37:g.35902621A>T	ENSP00000343610:p.Asn885Lys		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.N885K	ENST00000339208.6	37	c.2655	CCDS11321.1	17	.	.	.	.	.	.	.	.	.	.	A	14.07	2.425172	0.43020	.	.	ENSG00000006114	ENST00000346661;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.43294	1.54;0.95	5.95	3.72	0.42706	.	0.708561	0.13683	N	0.370039	T	0.22936	0.0554	L	0.36672	1.1	0.25639	N	0.986224	P;P;P;B;B	0.37276	0.589;0.589;0.589;0.178;0.178	B;B;B;B;B	0.30855	0.121;0.121;0.121;0.053;0.053	T	0.11717	-1.0576	10	0.07325	T	0.83	-5.1698	4.3691	0.11239	0.6145:0.1623:0.2232:0.0	.	807;807;807;885;885	Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;SYNRG_HUMAN	K	885;885;807;807	ENSP00000005279:N885K;ENSP00000377903:N807K	ENSP00000315722:N885K	N	-	3	2	SYNRG	32976734	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.635000	0.37134	1.034000	0.39945	0.533000	0.62120	AAT	SYNRG	-	NULL	ENSG00000006114		0.433	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	15	0.00	0	A	NM_007247		35902621	35902621	-1	no_errors	ENST00000339208	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	0.995	T
SYNRG	11276	genome.wustl.edu	37	17	35946532	35946532	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr17:35946532C>A	ENST00000339208.6	-	4	506	c.366G>T	c.(364-366)gaG>gaT	p.E122D	SYNRG_ENST00000591288.1_Missense_Mutation_p.E122D|SYNRG_ENST00000502449.2_Missense_Mutation_p.E122D|SYNRG_ENST00000394378.2_Missense_Mutation_p.E122D|SYNRG_ENST00000346661.4_Missense_Mutation_p.E122D|SYNRG_ENST00000345615.4_Missense_Mutation_p.E122D|SYNRG_ENST00000585472.1_Missense_Mutation_p.E121D	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	122					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTACTGCTGCTCTTCGGCAA	0.448																																						dbGAP											0													115.0	101.0	106.0					17																	35946532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.366G>T	17.37:g.35946532C>A	ENSP00000343610:p.Glu122Asp		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.E122D	ENST00000339208.6	37	c.366	CCDS11321.1	17	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222906	0.79464	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	4.72	3.72	0.42706	.	0.108816	0.64402	D	0.000009	T	0.52370	0.1730	M	0.63843	1.955	0.54753	D	0.999988	D;P;P;P;P;D;D	0.67145	0.99;0.454;0.679;0.679;0.679;0.996;0.996	D;B;B;B;B;D;D	0.76071	0.979;0.265;0.265;0.373;0.265;0.987;0.987	T	0.47315	-0.9127	10	0.33940	T	0.23	-3.8135	10.3885	0.44154	0.0:0.7881:0.1354:0.0765	.	122;122;122;122;122;122;122	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	D	122	ENSP00000005279:E122D;ENSP00000343610:E122D;ENSP00000315722:E122D;ENSP00000424893:E122D;ENSP00000377903:E122D	ENSP00000343610:E122D	E	-	3	2	SYNRG	33020645	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.769000	0.38522	1.056000	0.40484	0.579000	0.79373	GAG	SYNRG	-	NULL	ENSG00000006114		0.448	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	58	0.00	0	C	NM_007247		35946532	35946532	-1	no_errors	ENST00000339208	ensembl	human	known	69_37n	missense	54	44.90	44	SNP	1.000	A
SYT17	51760	genome.wustl.edu	37	16	19194881	19194881	+	Silent	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr16:19194881C>T	ENST00000355377.2	+	5	761	c.363C>T	c.(361-363)ctC>ctT	p.L121L	SYT17_ENST00000562711.2_Silent_p.L117L|SYT17_ENST00000568115.1_Silent_p.L60L|SYT17_ENST00000562034.1_Silent_p.L60L	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	121					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GCTCTCCACTCATCGATATTA	0.522																																						dbGAP											0													105.0	103.0	104.0					16																	19194881		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.363C>T	16.37:g.19194881C>T			O43330|Q9NZ18	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.L121	ENST00000355377.2	37	c.363	CCDS10575.1	16																																																																																			SYT17	-	NULL	ENSG00000103528		0.522	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2	20	0.00	0	C	NM_016524		19194881	19194881	+1	no_errors	ENST00000355377	ensembl	human	known	69_37n	silent	52	17.46	11	SNP	0.907	T
SYTL3	94120	genome.wustl.edu	37	6	159103965	159103965	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr6:159103965A>G	ENST00000297239.9	+	5	532	c.338A>G	c.(337-339)aAa>aGa	p.K113R	SYTL3_ENST00000360448.3_Missense_Mutation_p.K113R|SYTL3_ENST00000367081.3_5'UTR			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	113	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AGGAATGTCAAAATAAAAACT	0.343																																						dbGAP											0													56.0	57.0	57.0					6																	159103965		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.338A>G	6.37:g.159103965A>G	ENSP00000297239:p.Lys113Arg		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.K113R	ENST00000297239.9	37	c.338	CCDS56458.1	6	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696083	0.48202	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239	T;T	0.78364	-1.17;-1.17	5.34	4.18	0.49190	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.045697	0.85682	N	0.000000	T	0.69196	0.3084	L	0.57536	1.79	0.80722	D	1	P;D	0.57571	0.476;0.98	B;P	0.55508	0.263;0.777	T	0.67848	-0.5564	10	0.16896	T	0.51	.	8.18	0.31305	0.9081:0.0:0.0919:0.0	.	113;113	Q4VX76;Q4VX76-2	SYTL3_HUMAN;.	R	113	ENSP00000353631:K113R;ENSP00000297239:K113R	ENSP00000297239:K113R	K	+	2	0	SYTL3	159023953	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.131000	0.50515	0.969000	0.38237	0.491000	0.48974	AAA	SYTL3	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	ENSG00000164674		0.343	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1	68	0.00	0	A			159103965	159103965	+1	no_errors	ENST00000297239	ensembl	human	known	69_37n	missense	79	23.30	24	SNP	1.000	G
TAS2R8	50836	genome.wustl.edu	37	12	10959166	10959166	+	Silent	SNP	A	A	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:10959166A>G	ENST00000240615.2	-	1	726	c.414T>C	c.(412-414)ttT>ttC	p.F138F		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	138					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGAAATGGCAAAGCATCCCA	0.398																																						dbGAP											0													107.0	97.0	100.0					12																	10959166		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.414T>C	12.37:g.10959166A>G			Q4KN29|Q645Y2	Silent	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.F138	ENST00000240615.2	37	c.414	CCDS8632.1	12																																																																																			TAS2R8	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000121314		0.398	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R8	HGNC	protein_coding	OTTHUMT00000399932.1	53	0.00	0	A			10959166	10959166	-1	no_errors	ENST00000240615	ensembl	human	known	69_37n	silent	108	13.60	17	SNP	0.000	G
TAS2R14	50840	genome.wustl.edu	37	12	11091413	11091413	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:11091413C>T	ENST00000537503.1	-	1	449	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	132					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						AGAAGCAGCACCAAAACCACC	0.358																																						dbGAP											0													58.0	58.0	58.0					12																	11091413		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.394G>A	12.37:g.11091413C>T	ENSP00000441949:p.Val132Met		Q645X3	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.V132M	ENST00000537503.1	37	c.394	CCDS8637.1	12	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344584	0.24339	.	.	ENSG00000212127	ENST00000537503	T	0.00784	5.7	3.88	-4.27	0.03744	.	1.395140	0.05272	N	0.517697	T	0.01189	0.0039	N	0.25890	0.77	0.09310	N	1	P	0.46395	0.877	P	0.54026	0.74	T	0.38887	-0.9640	10	0.40728	T	0.16	.	6.0826	0.19950	0.0:0.2578:0.1499:0.5923	.	132	Q9NYV8	T2R14_HUMAN	M	132	ENSP00000441949:V132M	ENSP00000375094:V132M	V	-	1	0	TAS2R14	10982680	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-4.171000	0.00281	-0.891000	0.03940	0.609000	0.83330	GTG	TAS2R14	-	pfam_TAS2_rcpt	ENSG00000212127		0.358	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TAS2R14	HGNC	protein_coding	OTTHUMT00000370194.4	27	0.00	0	C	NM_023922		11091413	11091413	-1	no_errors	ENST00000537503	ensembl	human	known	69_37n	missense	37	22.92	11	SNP	0.000	T
TCTN1	79600	genome.wustl.edu	37	12	111085556	111085556	+	Silent	SNP	C	C	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:111085556C>A	ENST00000551590.1	+	14	1779	c.1623C>A	c.(1621-1623)gcC>gcA	p.A541A	TCTN1_ENST00000397655.3_Silent_p.A527A|TCTN1_ENST00000377654.3_3'UTR|TCTN1_ENST00000397659.4_Silent_p.A546A|HVCN1_ENST00000548312.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	541					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TATTACAGGCCAACTCAGGAA	0.488																																						dbGAP											0													75.0	75.0	75.0					12																	111085556		1950	4139	6089	-	-	-	SO:0001819	synonymous_variant	0			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1623C>A	12.37:g.111085556C>A			A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	NULL	p.P26Q	ENST00000551590.1	37	c.77	CCDS41835.1	12	.	.	.	.	.	.	.	.	.	.	C	8.882	0.951861	0.18431	.	.	ENSG00000204852	ENST00000481093	.	.	.	5.86	1.95	0.26073	.	.	.	.	.	T	0.38983	0.1061	.	.	.	0.22648	N	0.998895	.	.	.	.	.	.	T	0.36383	-0.9750	5	0.87932	D	0	-10.5815	4.6403	0.12545	0.0:0.404:0.3027:0.2932	.	.	.	.	Q	26	.	ENSP00000448281:P26Q	P	+	2	0	TCTN1	109569939	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	0.071000	0.14594	0.798000	0.33994	-0.157000	0.13467	CCA	TCTN1	-	NULL	ENSG00000204852		0.488	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	29	0.00	0	C	NM_024549		111085556	111085556	+1	no_stop_codon	ENST00000481093	ensembl	human	putative	69_37n	missense	50	20.63	13	SNP	0.000	A
TEX33	339669	genome.wustl.edu	37	22	37387573	37387573	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr22:37387573T>C	ENST00000405091.2	-	6	945	c.694A>G	c.(694-696)Aaa>Gaa	p.K232E	TEX33_ENST00000381821.1_Missense_Mutation_p.K232E|TEX33_ENST00000402860.3_Missense_Mutation_p.K147E			O43247	TEX33_HUMAN	testis expressed 33	232																	CTCACTGATTTCTCAATGACC	0.527																																						dbGAP											0													206.0	175.0	186.0					22																	37387573		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.694A>G	22.37:g.37387573T>C	ENSP00000386118:p.Lys232Glu		B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	NULL	p.K232E	ENST00000405091.2	37	c.694	CCDS54524.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.56|18.56	3.651443|3.651443	0.67472|0.67472	.|.	.|.	ENSG00000185264|ENSG00000185264	ENST00000442538|ENST00000402860;ENST00000405091;ENST00000381821	.|.	.|.	.|.	5.11|5.11	4.0|4.0	0.46444|0.46444	.|.	.|0.344653	.|0.24031	.|N	.|0.042198	T|T	0.42787|0.42787	0.1218|0.1218	L|L	0.27053|0.27053	0.805|0.805	0.34642|0.34642	D|D	0.720786|0.720786	.|D	.|0.56035	.|0.974	.|P	.|0.52189	.|0.692	T|T	0.57335|0.57335	-0.7829|-0.7829	6|9	0.72032|0.66056	D|D	0.01|0.02	-11.9373|-11.9373	8.5315|8.5315	0.33337|0.33337	0.0:0.0:0.1956:0.8044|0.0:0.0:0.1956:0.8044	.|.	.|232	.|O43247	.|EAN57_HUMAN	G|E	90|147;232;232	.|.	ENSP00000406640:E90G|ENSP00000371243:K232E	E|K	-|-	2|1	0|0	C22orf33|C22orf33	35717519|35717519	0.983000|0.983000	0.35010|0.35010	0.996000|0.996000	0.52242|0.52242	0.652000|0.652000	0.38707|0.38707	1.897000|1.897000	0.39799|0.39799	2.044000|2.044000	0.60594|0.60594	0.460000|0.460000	0.39030|0.39030	GAA|AAA	TEX33	-	NULL	ENSG00000185264		0.527	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TEX33	HGNC	protein_coding	OTTHUMT00000318778.2	62	0.00	0	T	NM_178552		37387573	37387573	-1	no_errors	ENST00000381821	ensembl	human	known	69_37n	missense	88	52.17	96	SNP	0.994	C
THNSL1	79896	genome.wustl.edu	37	10	25313411	25313411	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr10:25313411T>G	ENST00000524413.1	+	3	1606	c.1259T>G	c.(1258-1260)aTa>aGa	p.I420R	THNSL1_ENST00000376356.4_Missense_Mutation_p.I420R			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	420						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AAAGCACAAATAATTGGCAGT	0.333																																						dbGAP											0													110.0	113.0	112.0					10																	25313411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1259T>G	10.37:g.25313411T>G	ENSP00000434887:p.Ile420Arg		B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	pfam_Shikimate_kinase,pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,prints_Shikimate_kinase,tigrfam_Thr_synthase	p.I420R	ENST00000524413.1	37	c.1259	CCDS7147.1	10	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388677	0.61956	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.11821	2.74;2.74	5.71	5.71	0.89125	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.092996	0.64402	D	0.000001	T	0.30448	0.0765	M	0.65975	2.015	0.80722	D	1	D	0.55800	0.973	P	0.54590	0.756	T	0.02173	-1.1201	10	0.87932	D	0	-30.432	15.9893	0.80188	0.0:0.0:0.0:1.0	.	420	Q8IYQ7	THNS1_HUMAN	R	420	ENSP00000434887:I420R;ENSP00000365534:I420R	ENSP00000365534:I420R	I	+	2	0	THNSL1	25353417	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.498000	0.81546	2.181000	0.69327	0.528000	0.53228	ATA	THNSL1	-	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase	ENSG00000185875		0.333	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	THNSL1	HGNC	protein_coding	OTTHUMT00000394913.1	92	0.00	0	T	NM_024838		25313411	25313411	+1	no_errors	ENST00000376356	ensembl	human	known	69_37n	missense	204	10.92	25	SNP	1.000	G
TMEM81	388730	genome.wustl.edu	37	1	205053330	205053330	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:205053330C>T	ENST00000367167.3	-	1	315	c.119G>A	c.(118-120)gGg>gAg	p.G40E		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	40						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GATAACTTTCCCCACAGCTTC	0.527																																						dbGAP											0													147.0	121.0	130.0					1																	205053330		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.119G>A	1.37:g.205053330C>T	ENSP00000356135:p.Gly40Glu		Q6UVZ4	Missense_Mutation	SNP	pfscan_Ig-like	p.G40E	ENST00000367167.3	37	c.119	CCDS1450.1	1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325603	0.60743	.	.	ENSG00000174529	ENST00000367167	T	0.33654	1.4	5.49	5.49	0.81192	.	0.315574	0.30043	N	0.010558	T	0.56848	0.2013	M	0.67953	2.075	0.36903	D	0.890512	D	0.89917	1.0	D	0.75020	0.985	T	0.64236	-0.6455	10	0.72032	D	0.01	-16.8586	12.9705	0.58510	0.0:0.8378:0.1622:0.0	.	40	Q6P7N7	TMM81_HUMAN	E	40	ENSP00000356135:G40E	ENSP00000356135:G40E	G	-	2	0	TMEM81	203319953	0.138000	0.22547	0.996000	0.52242	0.662000	0.39071	1.243000	0.32767	2.753000	0.94483	0.557000	0.71058	GGG	TMEM81	-	NULL	ENSG00000174529		0.527	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM81	HGNC	protein_coding	OTTHUMT00000090076.1	36	0.00	0	C	NM_203376		205053330	205053330	-1	no_errors	ENST00000367167	ensembl	human	known	69_37n	missense	100	17.36	21	SNP	0.991	T
TNC	3371	genome.wustl.edu	37	9	117836049	117836049	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr9:117836049C>T	ENST00000350763.4	-	10	3458	c.3047G>A	c.(3046-3048)cGc>cAc	p.R1016H	TNC_ENST00000341037.4_Missense_Mutation_p.R1016H|TNC_ENST00000340094.3_Missense_Mutation_p.R1016H|TNC_ENST00000423613.2_Missense_Mutation_p.R1016H|TNC_ENST00000346706.3_Missense_Mutation_p.R1016H|TNC_ENST00000537320.1_Missense_Mutation_p.R1016H|TNC_ENST00000345230.3_Missense_Mutation_p.R1016H|TNC_ENST00000542877.1_Missense_Mutation_p.R1016H|TNC_ENST00000535648.1_Missense_Mutation_p.R1016H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1016	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTAATTGAGGCGGTAGCGGTC	0.562																																						dbGAP											0													91.0	90.0	90.0					9																	117836049		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3047G>A	9.37:g.117836049C>T	ENSP00000265131:p.Arg1016His		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R1016H	ENST00000350763.4	37	c.3047	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372197	0.82573	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.85	5.85	0.93711	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.109255	0.64402	D	0.000003	T	0.80929	0.4718	M	0.86502	2.82	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	T	0.82491	-0.0431	10	0.62326	D	0.03	.	20.1486	0.98083	0.0:1.0:0.0:0.0	.	1016;1016	E9PC84;P24821	.;TENA_HUMAN	H	1016	ENSP00000344400:R1016H;ENSP00000438152:R1016H;ENSP00000344555:R1016H;ENSP00000345861:R1016H;ENSP00000265131:R1016H;ENSP00000339553:R1016H;ENSP00000411406:R1016H;ENSP00000443478:R1016H;ENSP00000442242:R1016H	ENSP00000344400:R1016H	R	-	2	0	TNC	116875870	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.478000	0.60230	2.774000	0.95407	0.561000	0.74099	CGC	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.562	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	38	0.00	0	C	NM_002160		117836049	117836049	-1	no_errors	ENST00000350763	ensembl	human	known	69_37n	missense	82	15.46	15	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	T	rs11575997		TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr17:7576852C>T	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(24)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGACTTAGTACCTGAAGGGTG	0.458		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	ovary(8)|lung(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|NS(2)|pancreas(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	GRCh37	CD002536	TP53	D	rs11575997						115.0	108.0	111.0					17																	7576852		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.993+1G>A	17.37:g.7576852C>T			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e8+1	ENST00000269305.4	37	c.993+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361474	0.41801	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.	TP53	-	-	ENSG00000141510		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	67	0.00	0	C	NM_000546	Intron	7576852	7576852	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	splice_site	62	53.03	70	SNP	1.000	T
TRAFD1	10906	genome.wustl.edu	37	12	112589696	112589696	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr12:112589696T>A	ENST00000257604.5	+	10	1988	c.1371T>A	c.(1369-1371)aaT>aaA	p.N457K	Y_RNA_ENST00000363265.1_RNA|TRAFD1_ENST00000412615.2_Missense_Mutation_p.N457K	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	457					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CCATTAACAATATGACAGCTA	0.532																																						dbGAP											0													123.0	132.0	129.0					12																	112589696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1371T>A	12.37:g.112589696T>A	ENSP00000257604:p.Asn457Lys		A8K5L6|B4DI89	Missense_Mutation	SNP	superfamily_TRAF-like	p.N457K	ENST00000257604.5	37	c.1371	CCDS9160.1	12	.	.	.	.	.	.	.	.	.	.	T	15.12	2.739951	0.49045	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.34072	1.38;1.38	6.16	-0.497	0.12023	.	0.830491	0.11505	N	0.557314	T	0.46678	0.1405	M	0.72118	2.19	0.09310	N	1	D	0.63046	0.992	P	0.57101	0.813	T	0.34800	-0.9814	10	0.87932	D	0	-4.9088	5.3773	0.16172	0.0:0.4526:0.1815:0.3658	.	457	O14545	TRAD1_HUMAN	K	457	ENSP00000396526:N457K;ENSP00000257604:N457K	ENSP00000257604:N457K	N	+	3	2	TRAFD1	111074079	0.001000	0.12720	0.000000	0.03702	0.193000	0.23685	-0.006000	0.12833	-0.042000	0.13535	-0.297000	0.09499	AAT	TRAFD1	-	NULL	ENSG00000135148		0.532	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAFD1	HGNC	protein_coding	OTTHUMT00000405214.1	47	0.00	0	T	NM_006700		112589696	112589696	+1	no_errors	ENST00000257604	ensembl	human	known	69_37n	missense	70	23.08	21	SNP	0.000	A
TRIM42	287015	genome.wustl.edu	37	3	140397328	140397328	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:140397328T>C	ENST00000286349.3	+	1	448	c.257T>C	c.(256-258)cTc>cCc	p.L86P		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	86	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCAGCAATCTCAACTGCTAC	0.557																																						dbGAP											0													69.0	59.0	63.0					3																	140397328		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.257T>C	3.37:g.140397328T>C	ENSP00000286349:p.Leu86Pro		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.L86P	ENST00000286349.3	37	c.257	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	T	4.032	0.003565	0.07866	.	.	ENSG00000155890	ENST00000286349	T	0.21361	2.01	5.15	2.75	0.32379	.	1.002830	0.08040	N	0.994923	T	0.10294	0.0252	N	0.08118	0	0.09310	N	0.999998	B	0.27882	0.192	B	0.25291	0.059	T	0.31052	-0.9957	10	0.33940	T	0.23	-13.246	4.9585	0.14054	0.0:0.0947:0.1888:0.7165	.	86	Q8IWZ5	TRI42_HUMAN	P	86	ENSP00000286349:L86P	ENSP00000286349:L86P	L	+	2	0	TRIM42	141880018	0.011000	0.17503	0.004000	0.12327	0.102000	0.19082	2.108000	0.41854	0.897000	0.36392	0.533000	0.62120	CTC	TRIM42	-	NULL	ENSG00000155890		0.557	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	25	0.00	0	T	NM_152616		140397328	140397328	+1	no_errors	ENST00000286349	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	0.002	C
TSEN54	283989	genome.wustl.edu	37	17	73519828	73519828	+	Silent	SNP	T	T	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr17:73519828T>G	ENST00000333213.6	+	10	1434	c.1398T>G	c.(1396-1398)ccT>ccG	p.P466P	LLGL2_ENST00000578363.1_5'Flank|LLGL2_ENST00000375227.4_5'Flank|LLGL2_ENST00000392550.3_5'Flank|LLGL2_ENST00000167462.5_5'Flank	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	466					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAATAACCCTGGCAAACCCT	0.547																																						dbGAP											0													63.0	61.0	61.0					17																	73519828		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1398T>G	17.37:g.73519828T>G			Q86WV3|Q86XE4|Q8N9H2	Silent	SNP	NULL	p.P466	ENST00000333213.6	37	c.1398	CCDS11724.1	17																																																																																			TSEN54	-	NULL	ENSG00000182173		0.547	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	HGNC	protein_coding	OTTHUMT00000447618.1	41	0.00	0	T	NM_207346		73519828	73519828	+1	no_errors	ENST00000333213	ensembl	human	known	69_37n	silent	65	15.58	12	SNP	0.987	G
TTC7A	57217	genome.wustl.edu	37	2	47233105	47233105	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:47233105G>A	ENST00000319190.5	+	9	1478	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	TTC7A_ENST00000409245.1_Silent_p.E336E|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Silent_p.E370E|TTC7A_ENST00000263737.6_Silent_p.E16E	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	370					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGCAGGAGGAGGACCGGACAG	0.582																																						dbGAP											0													133.0	106.0	115.0					2																	47233105		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1110G>A	2.37:g.47233105G>A			Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	NULL	p.R12K	ENST00000319190.5	37	c.35	CCDS33193.1	2																																																																																			TTC7A	-	NULL	ENSG00000068724		0.582	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7A	HGNC	protein_coding	OTTHUMT00000329667.2	47	0.00	0	G	XM_372927		47233105	47233105	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000440051	ensembl	human	known	69_37n	missense	134	12.90	20	SNP	0.932	A
TTN	7273	genome.wustl.edu	37	2	179456033	179456033	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:179456033T>C	ENST00000591111.1	-	254	55720	c.55496A>G	c.(55495-55497)aAc>aGc	p.N18499S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N17572S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N20140S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N11267S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N11200S|TTN_ENST00000460472.2_Missense_Mutation_p.N11075S|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18499	Ig-like 106.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTAAGCAGTTCTTAATGGT	0.438																																						dbGAP											0													322.0	318.0	319.0					2																	179456033		1921	4136	6057	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55496A>G	2.37:g.179456033T>C	ENSP00000465570:p.Asn18499Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.N17572S	ENST00000591111.1	37	c.52715		2	.	.	.	.	.	.	.	.	.	.	T	9.790	1.177663	0.21787	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	6.11	6.11	0.99139	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26593	0.0650	N	0.05574	-0.02	0.28057	N	0.933137	B;B;B;B	0.14438	0.01;0.01;0.01;0.01	B;B;B;B	0.15052	0.012;0.012;0.012;0.012	T	0.17992	-1.0351	9	0.87932	D	0	.	11.6943	0.51534	0.0:0.0681:0.0:0.9319	.	11075;11200;11267;18499	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	17572;11075;11267;11200;11073	ENSP00000343764:N17572S;ENSP00000434586:N11075S;ENSP00000340554:N11267S;ENSP00000352154:N11200S	ENSP00000340554:N11267S	N	-	2	0	TTN	179164279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.061000	0.64319	2.343000	0.79666	0.533000	0.62120	AAC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	68	0.00	0	T	NM_133378		179456033	179456033	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	143	20.11	36	SNP	1.000	C
UFL1	23376	genome.wustl.edu	37	6	96999374	96999374	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr6:96999374C>G	ENST00000369278.4	+	16	1950	c.1884C>G	c.(1882-1884)aaC>aaG	p.N628K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	628					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AACTCCATAACTCTCTGAATG	0.294																																						dbGAP											0													46.0	53.0	51.0					6																	96999374		2193	4277	6470	-	-	-	SO:0001583	missense	0			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1884C>G	6.37:g.96999374C>G	ENSP00000358283:p.Asn628Lys		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	pfam_E3_UFM1_ligase_1	p.N628K	ENST00000369278.4	37	c.1884	CCDS5034.1	6	.	.	.	.	.	.	.	.	.	.	C	0.966	-0.701717	0.03255	.	.	ENSG00000014123	ENST00000369278	T	0.38887	1.11	5.3	2.55	0.30701	.	0.231325	0.49916	D	0.000124	T	0.04092	0.0114	N	0.02296	-0.605	0.35238	D	0.777565	B	0.09022	0.002	B	0.09377	0.004	T	0.39742	-0.9599	10	0.05436	T	0.98	-7.7388	6.4684	0.21995	0.0:0.5789:0.0:0.4211	.	628	O94874	UFL1_HUMAN	K	628	ENSP00000358283:N628K	ENSP00000358283:N628K	N	+	3	2	KIAA0776	97106095	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.319000	0.33655	0.618000	0.30179	-0.122000	0.15005	AAC	UFL1	-	NULL	ENSG00000014123		0.294	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	21	0.00	0	C	NM_015323		96999374	96999374	+1	no_errors	ENST00000369278	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	1.000	G
ULK4P2	100288380	genome.wustl.edu	37	15	32720492	32720492	+	RNA	SNP	G	G	C	rs200200663	byFrequency	TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr15:32720492G>C	ENST00000562108.1	-	0	176				ULK4P1_ENST00000565949.1_RNA|U8_ENST00000384260.1_RNA																							TCCAGGTCCTGCTGACTCAGG	0.398																																						dbGAP											0																																										-	-	-			0																															15.37:g.32720492G>C				RNA	SNP	-	NULL	ENST00000562108.1	37	NULL		15																																																																																			ULK4P1	-	-	ENSG00000215304		0.398	RP13-395E19.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	ULK4P1	HGNC	processed_transcript	OTTHUMT00000429843.1	14	0.00	0	G			32720492	32720492	-1	no_errors	ENST00000562108	ensembl	human	known	69_37n	rna	7	68.18	15	SNP	1.000	C
VRK1	7443	genome.wustl.edu	37	14	97322913	97322916	+	Frame_Shift_Del	DEL	AAAC	AAAC	-	rs541660707		TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	AAAC	AAAC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr14:97322913_97322916delAAAC	ENST00000216639.3	+	10	1028_1031	c.879_882delAAAC	c.(877-882)aaaaacfs	p.KN293fs		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTCCTGAGAAAAACAAACCAGGTA	0.324																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.879_882delAAAC	14.37:g.97322917_97322920delAAAC	ENSP00000216639:p.Lys293fs		Q3SYL2	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.K295fs	ENST00000216639.3	37	c.879_882	CCDS9947.1	14																																																																																			VRK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000100749		0.324	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRK1	HGNC	protein_coding	OTTHUMT00000413520.1	44	0.00	0	AAAC	NM_003384		97322913	97322916	+1	no_errors	ENST00000216639	ensembl	human	known	69_37n	frame_shift_del	106	10.17	12	DEL	1.000:1.000:1.000:0.999	-
VWDE	221806	genome.wustl.edu	37	7	12410085	12410085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr7:12410085delG	ENST00000275358.3	-	12	2035	c.1847delC	c.(1846-1848)tcafs	p.S616fs		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	616	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						CTTTCCAGGTGATGTCATAGA	0.418																																						dbGAP											0													13.0	10.0	11.0					7																	12410085		691	1588	2279	-	-	-	SO:0001589	frameshift_variant	0				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.1847delC	7.37:g.12410085delG	ENSP00000275358:p.Ser616fs		B7ZM77|Q96SQ3	Frame_Shift_Del	DEL	pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.S616fs	ENST00000275358.3	37	c.1847	CCDS47544.1	7																																																																																			VWDE	-	NULL	ENSG00000146530		0.418	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	8	0.00	0	G	XM_371878		12410085	12410085	-1	no_errors	ENST00000452576	ensembl	human	known	69_37n	frame_shift_del	15	31.82	7	DEL	0.006	-
CFAP44	55779	genome.wustl.edu	37	3	113138991	113138991	+	Missense_Mutation	SNP	T	T	G	rs531896485		TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:113138991T>G	ENST00000295868.2	-	5	605	c.443A>C	c.(442-444)aAc>aCc	p.N148T	WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.N148T	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AAGTTGTAGGTTGGCTCGCTT	0.418																																						dbGAP											0													125.0	113.0	117.0					3																	113138991		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000295868.2:c.443A>C	3.37:g.113138991T>G	ENSP00000295868:p.Asn148Thr			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N148T	ENST00000295868.2	37	c.443	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913503	0.72983	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.60672	4.98;0.17	5.44	5.44	0.79542	.	.	.	.	.	T	0.55924	0.1951	M	0.70275	2.135	0.80722	D	1	B	0.32653	0.379	B	0.26517	0.07	T	0.61700	-0.7009	9	0.87932	D	0	.	13.7142	0.62687	0.0:0.0:0.0:1.0	.	148	Q96MT7	WDR52_HUMAN	T	148	ENSP00000377428:N148T;ENSP00000295868:N148T	ENSP00000295868:N148T	N	-	2	0	WDR52	114621681	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.586000	0.74067	2.066000	0.61787	0.533000	0.62120	AAC	WDR52	-	NULL	ENSG00000206530		0.418	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	77	0.00	0	T			113138991	113138991	-1	no_errors	ENST00000393845	ensembl	human	known	69_37n	missense	155	12.43	22	SNP	1.000	G
WRNIP1	56897	genome.wustl.edu	37	6	2769106	2769106	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr6:2769106A>C	ENST00000380773.4	+	2	1213	c.1004A>C	c.(1003-1005)aAa>aCa	p.K335T	WRNIP1_ENST00000380769.4_Missense_Mutation_p.K115T|WRNIP1_ENST00000380764.1_5'UTR|WRNIP1_ENST00000380771.4_Missense_Mutation_p.K335T	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CGGTTCAATAAATCTCAGCAG	0.343																																						dbGAP											0													59.0	64.0	62.0					6																	2769106		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1004A>C	6.37:g.2769106A>C	ENSP00000370150:p.Lys335Thr			Missense_Mutation	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.K335T	ENST00000380773.4	37	c.1004	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	A	24.6	4.545177	0.86022	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769	D;D;D	0.93019	-3.15;-3.15;-3.15	5.44	5.44	0.79542	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96266	0.8782	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97044	0.9759	10	0.87932	D	0	-2.5058	14.678	0.68996	1.0:0.0:0.0:0.0	.	335;335	Q96S55-2;Q96S55	.;WRIP1_HUMAN	T	335;335;115	ENSP00000370150:K335T;ENSP00000370148:K335T;ENSP00000370146:K115T	ENSP00000370146:K115T	K	+	2	0	WRNIP1	2714105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.125000	0.94402	2.063000	0.61619	0.379000	0.24179	AAA	WRNIP1	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_AAA+_ATPase	ENSG00000124535		0.343	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	20	0.00	0	A	NM_130395		2769106	2769106	+1	no_errors	ENST00000380773	ensembl	human	known	69_37n	missense	68	16.05	13	SNP	1.000	C
YY1AP1	55249	genome.wustl.edu	37	1	155649273	155649273	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:155649273C>T	ENST00000295566.4	-	4	273	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E18K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E18K|YY1AP1_ENST00000368340.5_Missense_Mutation_p.E156K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E156K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E7K|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E18K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E7K|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E18K|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E7K|YY1AP1_ENST00000438245.2_Missense_Mutation_p.E18K|YY1AP1_ENST00000405763.3_Missense_Mutation_p.E156K|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E7K|YY1AP1_ENST00000476093.1_5'UTR	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	84					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCATCATCTTCCATGTTGGAG	0.502																																						dbGAP											0													128.0	108.0	115.0					1																	155649273		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.250G>A	1.37:g.155649273C>T	ENSP00000295566:p.Glu84Lys		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	NULL	p.E156K	ENST00000295566.4	37	c.466	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037057	0.54896	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.29142	1.64;1.58;1.68;1.58;1.64;1.74;1.76;1.58;1.68;1.61;1.71	3.18	3.18	0.36537	.	0.119039	0.56097	D	0.000028	T	0.41190	0.1148	M	0.64997	1.995	0.40139	D	0.976815	P;B;D;P;P;P;D	0.71674	0.67;0.184;0.996;0.454;0.811;0.88;0.998	B;B;D;B;P;P;D	0.75484	0.303;0.153;0.986;0.382;0.828;0.599;0.978	T	0.40289	-0.9571	10	0.51188	T	0.08	.	14.0728	0.64870	0.0:1.0:0.0:0.0	.	18;84;156;156;84;18;156	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	K	7;18;7;18;7;156;84;18;7;18;156;156;18;7;18	ENSP00000352134:E7K;ENSP00000347686:E18K;ENSP00000311138:E7K;ENSP00000316079:E18K;ENSP00000355298:E7K;ENSP00000357324:E156K;ENSP00000295566:E84K;ENSP00000357314:E18K;ENSP00000385791:E7K;ENSP00000385390:E18K;ENSP00000357323:E156K	ENSP00000295566:E84K	E	-	1	0	YY1AP1	153915897	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	3.216000	0.51176	1.589000	0.49982	0.305000	0.20034	GAA	YY1AP1	-	NULL	ENSG00000163374		0.502	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	102	0.00	0	C	NM_139118		155649273	155649273	-1	no_errors	ENST00000368339	ensembl	human	known	69_37n	missense	177	31.66	82	SNP	1.000	T
ZBTB11	27107	genome.wustl.edu	37	3	101370304	101370304	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:101370304G>A	ENST00000312938.4	-	11	3448	c.2868C>T	c.(2866-2868)aaC>aaT	p.N956N		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	956					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAGTTCCTTGGTTATGAAACT	0.433																																						dbGAP											0													167.0	155.0	159.0					3																	101370304		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2868C>T	3.37:g.101370304G>A			Q2NKP9	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.N956	ENST00000312938.4	37	c.2868	CCDS2943.1	3																																																																																			ZBTB11	-	NULL	ENSG00000066422		0.433	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	40	0.00	0	G	NM_014415		101370304	101370304	-1	no_errors	ENST00000312938	ensembl	human	known	69_37n	silent	85	16.67	17	SNP	1.000	A
ZBBX	79740	genome.wustl.edu	37	3	167086345	167086345	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr3:167086345C>T	ENST00000392766.2	-	5	426	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	ZBBX_ENST00000455345.2_Missense_Mutation_p.R29Q|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.R29Q|ZBBX_ENST00000307529.5_Missense_Mutation_p.R29Q|ZBBX_ENST00000392764.1_5'UTR	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	29						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTTCTCCATTCGCAGTTCTTG	0.338																																						dbGAP											0													134.0	118.0	123.0					3																	167086345		1807	4066	5873	-	-	-	SO:0001583	missense	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.86G>A	3.37:g.167086345C>T	ENSP00000376519:p.Arg29Gln		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.R29Q	ENST00000392766.2	37	c.86	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	C	6.406	0.443015	0.12164	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000474464	T;T;T;T;T	0.36340	2.85;2.85;2.86;2.86;1.26	5.21	-0.339	0.12647	.	.	.	.	.	T	0.21387	0.0515	N	0.25647	0.755	0.09310	N	1	B;B	0.28470	0.213;0.136	B;B	0.24006	0.05;0.022	T	0.18903	-1.0322	9	0.27785	T	0.31	-0.9251	7.8309	0.29342	0.0:0.4255:0.0:0.5745	.	29;29	A8MT70-2;A8MT70	.;ZBBX_HUMAN	Q	29	ENSP00000376519:R29Q;ENSP00000376520:R29Q;ENSP00000390232:R29Q;ENSP00000305065:R29Q;ENSP00000419307:R29Q	ENSP00000305065:R29Q	R	-	2	0	ZBBX	168569039	0.000000	0.05858	0.001000	0.08648	0.101000	0.19017	-0.505000	0.06367	-0.137000	0.11455	-0.237000	0.12165	CGA	ZBBX	-	NULL	ENSG00000169064		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	106	0.00	0	C	NM_024687		167086345	167086345	-1	no_errors	ENST00000307529	ensembl	human	known	69_37n	missense	148	33.93	76	SNP	0.055	T
ZFHX4	79776	genome.wustl.edu	37	8	77761899	77761899	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr8:77761899C>T	ENST00000521891.2	+	8	4245	c.3797C>T	c.(3796-3798)aCg>aTg	p.T1266M	ZFHX4_ENST00000518282.1_Missense_Mutation_p.T1240M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T1221M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T1221M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGCATCTGACGCATTTGCAC	0.483										HNSCC(33;0.089)																												dbGAP											0													91.0	86.0	88.0					8																	77761899		2058	4214	6272	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3797C>T	8.37:g.77761899C>T	ENSP00000430497:p.Thr1266Met		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.T1266M	ENST00000521891.2	37	c.3797	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444907	0.63178	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53423	0.62;0.69;0.67;0.65	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.43260	U	0.000581	T	0.61602	0.2360	L	0.48218	1.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.58555	-0.7616	10	0.31617	T	0.26	.	17.2382	0.87005	0.0:1.0:0.0:0.0	.	1221;1221;1266	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	1266;1266;1221;1221;1240	ENSP00000430497:T1266M;ENSP00000399605:T1221M;ENSP00000050961:T1221M;ENSP00000430848:T1240M	ENSP00000050961:T1221M	T	+	2	0	ZFHX4	77924454	1.000000	0.71417	0.977000	0.42913	0.944000	0.59088	7.609000	0.82925	2.359000	0.80004	0.555000	0.69702	ACG	ZFHX4	-	smart_Znf_C2H2-like	ENSG00000091656		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	39	0.00	0	C	NM_024721		77761899	77761899	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	58	47.75	53	SNP	1.000	T
ZFHX4	79776	genome.wustl.edu	37	8	77775820	77775820	+	Silent	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr8:77775820C>T	ENST00000521891.2	+	11	10318	c.9870C>T	c.(9868-9870)gtC>gtT	p.V3290V	ZFHX4_ENST00000518282.1_Silent_p.V3264V|ZFHX4_ENST00000455469.2_Silent_p.V3245V|ZFHX4_ENST00000050961.6_Silent_p.V3241V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCCACCTGTCTGTGGCATGG	0.527										HNSCC(33;0.089)																												dbGAP											0													75.0	73.0	74.0					8																	77775820		1901	4109	6010	-	-	-	SO:0001819	synonymous_variant	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9870C>T	8.37:g.77775820C>T			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.V3290	ENST00000521891.2	37	c.9870	CCDS47878.2	8																																																																																			ZFHX4	-	NULL	ENSG00000091656		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	30	0.00	0	C	NM_024721		77775820	77775820	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	silent	90	10.00	10	SNP	0.998	T
ZMYM4	9202	genome.wustl.edu	37	1	35851042	35851042	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr1:35851042G>A	ENST00000314607.6	+	10	1649		c.e10-1		ZMYM4_ENST00000373297.2_Intron	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTCTTAATAGAAATCAGCCA	0.313																																						dbGAP											0													68.0	73.0	71.0					1																	35851042		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1570-1G>A	1.37:g.35851042G>A			A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Splice_Site	SNP	-	e10-1	ENST00000314607.6	37	c.1570-1	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816061	0.70912	.	.	ENSG00000146463	ENST00000314607	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8892	0.92391	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZMYM4	35623629	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.705000	0.74644	2.532000	0.85374	0.543000	0.68304	.	ZMYM4	-	-	ENSG00000146463		0.313	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	38	0.00	0	G	NM_005095	Intron	35851042	35851042	+1	no_errors	ENST00000314607	ensembl	human	known	69_37n	splice_site	99	11.61	13	SNP	1.000	A
ZNF182	7569	genome.wustl.edu	37	X	47837015	47837015	+	Silent	SNP	G	G	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chrX:47837015G>A	ENST00000396965.1	-	7	821	c.471C>T	c.(469-471)ccC>ccT	p.P157P	ZNF182_ENST00000305127.6_Silent_p.P157P|ZNF182_ENST00000376943.3_Silent_p.P138P	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P138P(1)|p.P157P(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CGTGTTTATCGGGTCTTTGTA	0.328																																						dbGAP											2	Substitution - coding silent(2)	endometrium(2)											97.0	86.0	90.0					X																	47837015		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.471C>T	X.37:g.47837015G>A			A2IDD7|Q3KP67|Q96QH7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P157	ENST00000396965.1	37	c.471	CCDS35236.1	X																																																																																			ZNF182	-	NULL	ENSG00000147118		0.328	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF182	HGNC	protein_coding	OTTHUMT00000277055.1	50	0.00	0	G	NM_006962		47837015	47837015	-1	no_errors	ENST00000305127	ensembl	human	known	69_37n	silent	115	22.82	34	SNP	0.013	A
ZNF217	7764	genome.wustl.edu	37	20	52193275	52193275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr20:52193275G>T	ENST00000371471.2	-	4	2453	c.2028C>A	c.(2026-2028)taC>taA	p.Y676*	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Nonsense_Mutation_p.Y676*			O75362	ZN217_HUMAN	zinc finger protein 217	676					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CACTTGGCCTGTATCTGCAGT	0.478																																						dbGAP											0													149.0	155.0	153.0					20																	52193275		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2028C>A	20.37:g.52193275G>T	ENSP00000360526:p.Tyr676*		E1P5Y6|Q14DB8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y676*	ENST00000371471.2	37	c.2028	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	G	39	7.450584	0.98292	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	.	.	.	4.97	1.82	0.25136	.	1.769420	0.02991	N	0.146813	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8782	7.498	0.27500	0.1586:0.1354:0.7059:0.0	.	.	.	.	X	676	.	ENSP00000304308:Y676X	Y	-	3	2	ZNF217	51626682	0.002000	0.14202	0.000000	0.03702	0.031000	0.12232	0.964000	0.29306	0.464000	0.27142	0.555000	0.69702	TAC	ZNF217	-	NULL	ENSG00000171940		0.478	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	65	0.00	0	G	NM_006526		52193275	52193275	-1	no_errors	ENST00000302342	ensembl	human	known	69_37n	nonsense	255	27.97	99	SNP	0.000	T
ZNF433	163059	genome.wustl.edu	37	19	12125835	12125835	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr19:12125835T>A	ENST00000344980.6	-	4	2017	c.1847A>T	c.(1846-1848)aAa>aTa	p.K616I	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.K581I	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TTTATACGGTTTCTCTCCAGT	0.453																																						dbGAP											0													88.0	93.0	91.0					19																	12125835		2201	4300	6501	-	-	-	SO:0001583	missense	0			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1847A>T	19.37:g.12125835T>A	ENSP00000339767:p.Lys616Ile		Q86VX3	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.K616I	ENST00000344980.6	37	c.1847	CCDS45983.1	19	.	.	.	.	.	.	.	.	.	.	T	19.79	3.892299	0.72524	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.27720	1.65;1.65	1.41	0.353	0.16058	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47637	0.1456	M	0.88775	2.98	0.25319	N	0.989135	B	0.34372	0.451	P	0.47346	0.544	T	0.51450	-0.8704	9	0.87932	D	0	.	5.4035	0.16308	0.0:0.1722:0.0:0.8278	.	616	Q8N7K0	ZN433_HUMAN	I	581;616	ENSP00000393416:K581I;ENSP00000339767:K616I	ENSP00000339767:K616I	K	-	2	0	ZNF433	11986835	0.000000	0.05858	0.036000	0.18154	0.961000	0.63080	-0.113000	0.10774	0.044000	0.15775	0.254000	0.18369	AAA	ZNF433	-	pfscan_Znf_C2H2	ENSG00000197647		0.453	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	HGNC	protein_coding	OTTHUMT00000403716.1	62	0.00	0	T	NM_152602		12125835	12125835	-1	no_errors	ENST00000344980	ensembl	human	known	69_37n	missense	131	17.09	27	SNP	1.000	A
ZNF587	84914	genome.wustl.edu	37	19	58371291	58371291	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr19:58371291G>T	ENST00000339656.5	+	3	1693	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	ZNF587_ENST00000423137.1_Missense_Mutation_p.S503I|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.S461I|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TTTCTTTCCAGCTCTGCGCTT	0.388																																					Pancreas(59;641 1233 1885 20055 50741)	dbGAP											0													111.0	114.0	113.0					19																	58371291		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1511G>T	19.37:g.58371291G>T	ENSP00000345479:p.Ser504Ile		A0AV72|G3V0H5|Q6ZMK8	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.S504I	ENST00000339656.5	37	c.1511	CCDS12964.1	19	.	.	.	.	.	.	.	.	.	.	.	10.65	1.410450	0.25465	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.10288	2.89;2.89;2.89	0.882	-1.35	0.09114	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23926	0.0579	M	0.80422	2.495	0.25054	N	0.991119	D;P	0.57899	0.981;0.69	P;B	0.58266	0.836;0.227	T	0.22626	-1.0211	8	0.51188	T	0.08	.	7.0323	0.24975	0.2652:0.0:0.7348:0.0	.	503;504	G3V0H5;Q96SQ5	.;ZN587_HUMAN	I	461;503;504;504;461	ENSP00000393865:S503I;ENSP00000345479:S504I;ENSP00000406999:S461I	ENSP00000345479:S504I	S	+	2	0	ZNF587	63063103	0.000000	0.05858	0.002000	0.10522	0.122000	0.20287	-2.547000	0.00931	-0.489000	0.06716	0.195000	0.17529	AGC	ZNF587	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198466		0.388	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2	75	0.00	0	G	NM_032828		58371291	58371291	+1	no_errors	ENST00000339656	ensembl	human	known	69_37n	missense	190	11.63	25	SNP	0.000	T
ZNF618	114991	genome.wustl.edu	37	9	116812343	116812343	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr9:116812343G>C	ENST00000374126.5	+	15	2860	c.2761G>C	c.(2761-2763)Ggg>Cgg	p.G921R	ZNF618_ENST00000288466.7_Missense_Mutation_p.G828R|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	921					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGCCAGAAGCGGGTGTGTAAA	0.512																																						dbGAP											0													56.0	62.0	60.0					9																	116812343		1833	4080	5913	-	-	-	SO:0001583	missense	0			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2761G>C	9.37:g.116812343G>C	ENSP00000363241:p.Gly921Arg		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G921R	ENST00000374126.5	37	c.2761		9	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789604	0.50102	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21543	2.0;2.0	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.099558	0.64402	D	0.000002	T	0.21509	0.0518	.	.	.	0.51767	D	0.999932	B;B;P	0.37141	0.2;0.389;0.584	B;B;B	0.31337	0.065;0.044;0.128	T	0.01541	-1.1329	9	0.62326	D	0.03	-36.171	19.3319	0.94293	0.0:0.0:1.0:0.0	.	888;921;828	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	R	921;828	ENSP00000363241:G921R;ENSP00000288466:G828R	ENSP00000288466:G828R	G	+	1	0	ZNF618	115852164	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.265000	0.78442	2.815000	0.96918	0.561000	0.74099	GGG	ZNF618	-	superfamily_RNaseH-like_dom	ENSG00000157657		0.512	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	21	0.00	0	G	XM_054983		116812343	116812343	+1	no_errors	ENST00000374126	ensembl	human	known	69_37n	missense	13	53.57	15	SNP	1.000	C
ZRANB3	84083	genome.wustl.edu	37	2	135988317	135988317	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JK-01A-11D-A13L-09	TCGA-D8-A1JK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fadaa39d-ebd2-4887-ae54-1fca12287fcf	e61906d0-87d8-4d8a-9ccb-a075759744ff	g.chr2:135988317C>T	ENST00000264159.6	-	13	1836	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E574K|ZRANB3_ENST00000401392.1_Missense_Mutation_p.E574K	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	574					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CTTTTCGTTTCAGGTTCAACA	0.458																																						dbGAP											0													176.0	172.0	173.0					2																	135988317		1951	4137	6088	-	-	-	SO:0001583	missense	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1720G>A	2.37:g.135988317C>T	ENSP00000264159:p.Glu574Lys		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E574K	ENST00000264159.6	37	c.1720	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118083	0.37339	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90900	-2.75;-2.75;-2.73	5.65	3.76	0.43208	.	0.457877	0.25001	N	0.033920	D	0.84831	0.5559	L	0.40543	1.245	0.32793	N	0.50096	B;B	0.16802	0.011;0.019	B;B	0.16289	0.01;0.015	D	0.83962	0.0322	10	0.44086	T	0.13	2.6549	9.2412	0.37498	0.0:0.7771:0.1451:0.0778	.	574;574	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	K	39;39;574;574;574	ENSP00000383979:E574K;ENSP00000264159:E574K;ENSP00000441320:E574K	ENSP00000264159:E574K	E	-	1	0	ZRANB3	135704787	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	2.729000	0.47327	1.389000	0.46526	0.563000	0.77884	GAA	ZRANB3	-	NULL	ENSG00000121988		0.458	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	80	0.00	0	C	NM_032143		135988317	135988317	-1	no_errors	ENST00000264159	ensembl	human	known	69_37n	missense	111	28.66	45	SNP	1.000	T
