#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AASS	10157	genome.wustl.edu	37	7	121731835	121731835	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:121731835C>G	ENST00000393376.1	-	17	2033	c.1938G>C	c.(1936-1938)ttG>ttC	p.L646F	AASS_ENST00000417368.2_Missense_Mutation_p.L646F|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	646	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ATTTATATCTCAATGGATTGT	0.378																																																	0													57.0	57.0	57.0					7																	121731835		2203	4300	6503	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1938G>C	7.37:g.121731835C>G	ENSP00000377040:p.Leu646Phe		O95462	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.L646F	ENST00000393376.1	37	c.1938	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766693	0.69878	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.54675	0.56;0.56	5.58	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71484	-0.4579	10	0.66056	D	0.02	-11.5525	10.6647	0.45723	0.0:0.851:0.0:0.149	.	646	Q9UDR5	AASS_HUMAN	F	646	ENSP00000377040:L646F;ENSP00000403768:L646F	ENSP00000351834:L646F	L	-	3	2	AASS	121519071	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	1.516000	0.35856	1.351000	0.45789	0.650000	0.86243	TTG	AASS	-	pfam_Saccharopine_DH/HSpermid_syn		0.378	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1	C	NM_005763		121731835	-1	no_errors	ENST00000393376	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCA3	21	genome.wustl.edu	37	16	2345606	2345606	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:2345606C>T	ENST00000301732.5	-	18	3099	c.2399G>A	c.(2398-2400)aGa>aAa	p.R800K	ABCA3_ENST00000382381.3_Missense_Mutation_p.R742K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	800					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGTGCTCTCTCTGGGAAGGAT	0.627																																																	0													148.0	150.0	149.0					16																	2345606		2198	4300	6498	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2399G>A	16.37:g.2345606C>T	ENSP00000301732:p.Arg800Lys		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R800K	ENST00000301732.5	37	c.2399	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	C	0.856	-0.736875	0.03111	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	T	0.79940	-1.32	5.65	4.56	0.56223	.	0.099206	0.64402	N	0.000002	T	0.44456	0.1294	N	0.00395	-1.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.52616	-0.8552	10	0.02654	T	1	.	10.0058	0.41957	0.0:0.0806:0.0:0.9194	.	800;804;800	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	K	800;804	ENSP00000301732:R800K	ENSP00000301732:R800K	R	-	2	0	ABCA3	2285607	1.000000	0.71417	0.997000	0.53966	0.791000	0.44710	2.496000	0.45346	1.164000	0.42652	-0.302000	0.09304	AGA	ABCA3	-	NULL		0.627	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	C	NM_001089		2345606	-1	no_errors	ENST00000301732	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCA4	24	genome.wustl.edu	37	1	94461721	94461721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:94461721C>A	ENST00000370225.3	-	49	6846	c.6760G>T	c.(6760-6762)Gaa>Taa	p.E2254*	ABCA4_ENST00000536513.1_Nonsense_Mutation_p.E524*|ABCA4_ENST00000535881.1_Nonsense_Mutation_p.E373*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2254					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCATGACTTTCAGTCTGCTGT	0.507																																																	0													81.0	79.0	80.0					1																	94461721		2203	4300	6503	SO:0001587	stop_gained	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6760G>T	1.37:g.94461721C>A	ENSP00000359245:p.Glu2254*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.E2254*	ENST00000370225.3	37	c.6760	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.748702	0.89753	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	.	.	.	5.76	5.76	0.90799	.	0.385420	0.29924	N	0.010860	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.9721	0.97287	0.0:1.0:0.0:0.0	.	.	.	.	X	1046;2254;524;373	.	ENSP00000359245:E2254X	E	-	1	0	ABCA4	94234309	1.000000	0.71417	0.993000	0.49108	0.090000	0.18270	7.453000	0.80700	2.724000	0.93272	0.462000	0.41574	GAA	ABCA4	-	tigrfam_Rim_ABC_transpt		0.507	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94461721	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ABCC10	89845	genome.wustl.edu	37	6	43410728	43410728	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:43410728C>T	ENST00000372530.4	+	10	2462	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	ABCC10_ENST00000244533.3_Silent_p.L721L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	749	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L721L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCTATCTCCTCGATGACCCTC	0.582																																																	1	Substitution - coding silent(1)	lung(1)											78.0	65.0	70.0					6																	43410728		2203	4300	6503	SO:0001819	synonymous_variant	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2247C>T	6.37:g.43410728C>T			Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	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	p.L749	ENST00000372530.4	37	c.2247	CCDS56430.1	6																																																																																			ABCC10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.582	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	C	NM_033450		43410728	+1	no_errors	ENST00000372530	ensembl	human	known	70_37	silent	SNP	0.001	T
ABCC3	8714	genome.wustl.edu	37	17	48745873	48745873	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48745873C>T	ENST00000285238.8	+	14	1945	c.1865C>T	c.(1864-1866)tCc>tTc	p.S622F		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	622					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AAGACCATCTCCCCAGGTCTA	0.532																																																	0													78.0	75.0	76.0					17																	48745873		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1865C>T	17.37:g.48745873C>T	ENSP00000285238:p.Ser622Phe		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	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.S622F	ENST00000285238.8	37	c.1865	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234229	0.58886	.	.	ENSG00000108846	ENST00000285238	T	0.30714	1.52	4.4	4.4	0.53042	.	0.667620	0.13731	N	0.366675	T	0.33469	0.0864	L	0.49571	1.57	0.42599	D	0.993271	P	0.37038	0.579	B	0.36378	0.223	T	0.38394	-0.9663	10	0.72032	D	0.01	-11.7649	17.3441	0.87305	0.0:1.0:0.0:0.0	.	622	O15438	MRP3_HUMAN	F	622	ENSP00000285238:S622F	ENSP00000285238:S622F	S	+	2	0	ABCC3	46100872	0.353000	0.24904	1.000000	0.80357	0.912000	0.54170	3.299000	0.51826	2.155000	0.67459	0.491000	0.48974	TCC	ABCC3	-	tigrfam_Multidrug-R_assoc		0.532	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48745873	+1	no_errors	ENST00000285238	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCC4	10257	genome.wustl.edu	37	13	95839079	95839079	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:95839079C>G	ENST00000376887.4	-	11	1535	c.1421G>C	c.(1420-1422)aGa>aCa	p.R474T	ABCC4_ENST00000412704.1_Missense_Mutation_p.R474T|ABCC4_ENST00000536256.1_Missense_Mutation_p.R399T|ABCC4_ENST00000431522.1_Missense_Mutation_p.R474T|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	474	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ATAGGCAATTCTTCCATGCAC	0.458																																																	0													63.0	60.0	61.0					13																	95839079		2203	4300	6503	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1421G>C	13.37:g.95839079C>G	ENSP00000366084:p.Arg474Thr		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	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,prints_CysFib_conduc_TM	p.R474T	ENST00000376887.4	37	c.1421	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100927	0.37048	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.81	-0.099	0.13626	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.620106	0.19680	N	0.108532	D	0.85349	0.5676	N	0.16708	0.43	0.34693	D	0.725908	B;B;B;B;B	0.22983	0.032;0.078;0.011;0.078;0.032	B;B;B;B;B	0.33121	0.1;0.158;0.038;0.158;0.133	T	0.75608	-0.3259	10	0.27785	T	0.31	.	6.9651	0.24619	0.0:0.5823:0.1081:0.3096	.	399;474;474;474;474	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	T	474;474;399;474	ENSP00000388657:R474T;ENSP00000366084:R474T;ENSP00000442024:R399T;ENSP00000398562:R474T	ENSP00000366084:R474T	R	-	2	0	ABCC4	94637080	0.409000	0.25368	0.001000	0.08648	0.543000	0.35085	1.024000	0.30077	-0.078000	0.12730	-0.157000	0.13467	AGA	ABCC4	-	pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.458	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	C	NM_005845		95839079	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	missense	SNP	0.475	G
ABCC6	368	genome.wustl.edu	37	16	16291890	16291890	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:16291890G>C	ENST00000205557.7	-	10	1355	c.1326C>G	c.(1324-1326)gtC>gtG	p.V442V	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	442	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GCCAGAGATAGACGAAGCAGA	0.622																																																	0													54.0	43.0	47.0					16																	16291890		2197	4300	6497	SO:0001819	synonymous_variant	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1326C>G	16.37:g.16291890G>C			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	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.V442	ENST00000205557.7	37	c.1326	CCDS10568.1	16																																																																																			ABCC6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc		0.622	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	G			16291890	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	silent	SNP	1.000	C
ABCC6	368	genome.wustl.edu	37	16	16295943	16295943	+	Missense_Mutation	SNP	G	G	A	rs387906353|rs74315156|rs72653759		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:16295943G>A	ENST00000205557.7	-	9	1120	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	364	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		Missing (in PXE). {ECO:0000269|PubMed:15086542}.|T -> R (in PXE; autosomal recessive). {ECO:0000269|PubMed:11702217, ECO:0000269|PubMed:15459974, ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:17617515}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CTCAAACAGCGTTTGCAGGCA	0.577																																																	0			GRCh37	CM012884|CM080011	ABCC6	M	rs72653759						92.0	76.0	82.0					16																	16295943		2197	4300	6497	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1091C>T	16.37:g.16295943G>A	ENSP00000205557:p.Thr364Met		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	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.T364M	ENST00000205557.7	37	c.1091	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	.	19.58	3.854921	0.71719	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.91686	-2.89;-2.89	4.33	3.36	0.38483	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.284702	0.24449	U	0.038424	D	0.95360	0.8494	M	0.87038	2.855	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67103	0.927;0.949	D	0.95090	0.8221	10	0.87932	D	0	.	8.8082	0.34952	0.1085:0.0:0.8915:0.0	.	376;364	F5GWQ0;O95255	.;MRP6_HUMAN	M	364;364;376	ENSP00000205557:T364M;ENSP00000405002:T364M	ENSP00000205557:T364M	T	-	2	0	ABCC6	16203444	1.000000	0.71417	0.897000	0.35233	0.966000	0.64601	6.781000	0.75068	1.961000	0.56991	0.485000	0.47835	ACG	ABCC6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc		0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	G			16295943	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	missense	SNP	0.977	A
ABCG1	9619	genome.wustl.edu	37	21	43704687	43704687	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:43704687C>A	ENST00000361802.2	+	7	897	c.752C>A	c.(751-753)tCc>tAc	p.S251Y	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398437.1_Missense_Mutation_p.S397Y|ABCG1_ENST00000347800.2_Missense_Mutation_p.S248Y|ABCG1_ENST00000340588.4_Missense_Mutation_p.S359Y|ABCG1_ENST00000398449.3_Missense_Mutation_p.S251Y|ABCG1_ENST00000398457.2_Missense_Mutation_p.S253Y|ABCG1_ENST00000343687.3_Missense_Mutation_p.S262Y	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	251	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GACAGCGCCTCCTGCTTCCAG	0.642																																																	0													52.0	48.0	49.0					21																	43704687		2203	4300	6503	SO:0001583	missense	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.752C>A	21.37:g.43704687C>A	ENSP00000354995:p.Ser251Tyr		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.S397Y	ENST00000361802.2	37	c.1190	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581139	0.86748	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.22	4.22	0.49857	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.130854	0.52532	D	0.000061	T	0.76912	0.4054	M	0.68728	2.09	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;0.997	D;D;D;D;D;D	0.80764	0.99;0.987;0.993;0.973;0.993;0.994	T	0.78186	-0.2302	9	.	.	.	-17.5332	16.969	0.86294	0.0:1.0:0.0:0.0	.	262;262;251;251;248;253	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	Y	253;248;234;251;251;262;397;359	ENSP00000381475:S253Y;ENSP00000291524:S248Y;ENSP00000414541:S234Y;ENSP00000381467:S251Y;ENSP00000354995:S251Y;ENSP00000339744:S262Y;ENSP00000381464:S397Y;ENSP00000343820:S359Y	.	S	+	2	0	ABCG1	42577756	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.403000	0.79983	2.065000	0.61736	0.591000	0.81541	TCC	ABCG1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease		0.642	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	C	NM_207174		43704687	+1	no_errors	ENST00000398437	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCG1	9619	genome.wustl.edu	37	21	43704738	43704738	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:43704738C>G	ENST00000361802.2	+	7	948	c.803C>G	c.(802-804)tCc>tGc	p.S268C	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398437.1_Missense_Mutation_p.S414C|ABCG1_ENST00000347800.2_Missense_Mutation_p.S265C|ABCG1_ENST00000340588.4_Missense_Mutation_p.S376C|ABCG1_ENST00000398449.3_Missense_Mutation_p.S268C|ABCG1_ENST00000398457.2_Missense_Mutation_p.S270C|ABCG1_ENST00000343687.3_Missense_Mutation_p.S279C	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	268	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGGGGTCGCTCCATCATTTGC	0.642																																																	0													81.0	77.0	79.0					21																	43704738		2203	4300	6503	SO:0001583	missense	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.803C>G	21.37:g.43704738C>G	ENSP00000354995:p.Ser268Cys		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.S414C	ENST00000361802.2	37	c.1241	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780361	0.70222	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.22	4.22	0.49857	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.064020	0.64402	D	0.000007	T	0.40979	0.1139	N	0.25485	0.75	0.46336	D	0.998992	B;P;D;D;P;D	0.55172	0.002;0.941;0.97;0.964;0.808;0.969	B;P;P;P;P;P	0.54460	0.002;0.753;0.682;0.556;0.605;0.639	T	0.13710	-1.0499	9	.	.	.	-37.2592	12.1327	0.53952	0.1715:0.8285:0.0:0.0	.	279;279;268;268;265;270	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	C	270;265;251;268;268;279;414;376	ENSP00000381475:S270C;ENSP00000291524:S265C;ENSP00000414541:S251C;ENSP00000381467:S268C;ENSP00000354995:S268C;ENSP00000339744:S279C;ENSP00000381464:S414C;ENSP00000343820:S376C	.	S	+	2	0	ABCG1	42577807	1.000000	0.71417	0.987000	0.45799	0.667000	0.39255	5.538000	0.67193	2.065000	0.61736	0.591000	0.81541	TCC	ABCG1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease		0.642	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	C	NM_207174		43704738	+1	no_errors	ENST00000398437	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCG1	9619	genome.wustl.edu	37	21	43704742	43704742	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:43704742C>T	ENST00000361802.2	+	7	952	c.807C>T	c.(805-807)atC>atT	p.I269I	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398437.1_Silent_p.I415I|ABCG1_ENST00000347800.2_Silent_p.I266I|ABCG1_ENST00000340588.4_Silent_p.I377I|ABCG1_ENST00000398449.3_Silent_p.I269I|ABCG1_ENST00000398457.2_Silent_p.I271I|ABCG1_ENST00000343687.3_Silent_p.I280I	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	269	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTCGCTCCATCATTTGCACCA	0.642																																																	0													83.0	79.0	81.0					21																	43704742		2203	4300	6503	SO:0001819	synonymous_variant	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.807C>T	21.37:g.43704742C>T			Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.I415	ENST00000361802.2	37	c.1245	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407414	0.25378	.	.	ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161	.	.	.	4.22	2.24	0.28232	.	.	.	.	.	T	0.52725	0.1752	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44967	-0.9293	4	.	.	.	-39.5828	5.6618	0.17672	0.1565:0.6714:0.0:0.1721	.	.	.	.	Y	5	.	.	H	+	1	0	ABCG1	42577811	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.495000	0.35627	0.896000	0.36366	0.591000	0.81541	CAT	ABCG1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease		0.642	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	C	NM_207174		43704742	+1	no_errors	ENST00000398437	ensembl	human	known	70_37	silent	SNP	1.000	T
ABHD3	171586	genome.wustl.edu	37	18	19283676	19283676	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:19283676G>A	ENST00000289119.2	-	2	334	c.195C>T	c.(193-195)ttC>ttT	p.F65F	ABHD3_ENST00000580981.1_Silent_p.F65F|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	65						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						GGAAGCGGCTGAAACTCTCAC	0.542																																																	0													69.0	66.0	67.0					18																	19283676		2203	4300	6503	SO:0001819	synonymous_variant	171586			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.195C>T	18.37:g.19283676G>A			B0YIV0|B7Z5C2|O43411	Silent	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.F65	ENST00000289119.2	37	c.195	CCDS32802.1	18																																																																																			ABHD3	-	pirsf_AB-Hydro_YheT		0.542	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD3	HGNC	protein_coding	OTTHUMT00000444757.1	G			19283676	-1	no_errors	ENST00000289119	ensembl	human	known	70_37	silent	SNP	1.000	A
ABI1	10006	genome.wustl.edu	37	10	27052880	27052880	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:27052880G>C	ENST00000376142.2	-	8	901	c.830C>G	c.(829-831)tCt>tGt	p.S277C	ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000346832.5_Missense_Mutation_p.S294C|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000355394.4_Missense_Mutation_p.S278C|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376134.3_Intron	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	277	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGAGGGACAGAAATGTTTTC	0.423																																																	0													78.0	86.0	83.0					10																	27052880		2203	4300	6503	SO:0001583	missense	10006			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.830C>G	10.37:g.27052880G>C	ENSP00000365312:p.Ser277Cys		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.S278C	ENST00000376142.2	37	c.833	CCDS7150.1	10	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375127	0.42105	.	.	ENSG00000136754	ENST00000376142;ENST00000355394;ENST00000346832	T;T;T	0.39997	1.05;1.15;1.14	5.21	4.31	0.51392	.	0.211669	0.23021	U	0.052855	T	0.38054	0.1026	N	0.14661	0.345	0.80722	D	1	P;P	0.46578	0.661;0.88	B;P	0.52481	0.221;0.7	T	0.30822	-0.9965	10	0.56958	D	0.05	-6.267	11.8195	0.52230	0.0817:0.0:0.9183:0.0	.	294;277	B3KX62;Q8IZP0	.;ABI1_HUMAN	C	277;278;294	ENSP00000365312:S277C;ENSP00000347555:S278C;ENSP00000279599:S294C	ENSP00000279599:S294C	S	-	2	0	ABI1	27092886	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.209000	0.51122	1.188000	0.43014	0.467000	0.42956	TCT	ABI1	-	prints_p67phox		0.423	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI1	HGNC	protein_coding	OTTHUMT00000047287.1	G	NM_005470		27052880	-1	no_errors	ENST00000355394	ensembl	human	known	70_37	missense	SNP	1.000	C
ACOX2	8309	genome.wustl.edu	37	3	58490952	58490952	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:58490952C>T	ENST00000302819.5	-	15	2336	c.2045G>A	c.(2044-2046)tGa>tAa	p.*682*	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Silent_p.*668*	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	0					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TTGGTTATTTCATAGCTTGGA	0.323																																																	0													185.0	186.0	185.0					3																	58490952		2203	4300	6503	SO:0001819	synonymous_variant	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.2045G>A	3.37:g.58490952C>T			A6NF16|B2R8U5	Silent	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.*682	ENST00000302819.5	37	c.2045	CCDS33775.1	3																																																																																			ACOX2	-	NULL		0.323	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	C			58490952	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	silent	SNP	0.999	T
ACAP2	23527	genome.wustl.edu	37	3	195016553	195016553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:195016553G>T	ENST00000326793.6	-	17	1786	c.1556C>A	c.(1555-1557)tCa>tAa	p.S519*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	519	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AGGTGATAATGATATAGAATA	0.383																																																	0													88.0	89.0	88.0					3																	195016553		2203	4300	6503	SO:0001587	stop_gained	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1556C>A	3.37:g.195016553G>T	ENSP00000324287:p.Ser519*		A8K2V4|Q8N5Z8|Q9UQR3	Nonsense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.S519*	ENST00000326793.6	37	c.1556	CCDS33924.1	3	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687609	0.48097	.	.	ENSG00000114331	ENST00000326793	.	.	.	5.79	3.0	0.34707	.	1.088530	0.06948	N	0.814055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	10.2297	0.43247	0.2195:0.0:0.7805:0.0	.	.	.	.	X	519	.	ENSP00000324287:S519X	S	-	2	0	ACAP2	196497842	0.720000	0.27996	0.497000	0.27552	0.921000	0.55340	0.773000	0.26661	0.787000	0.33731	-0.137000	0.14449	TCA	ACAP2	-	smart_ArfGAP,pfscan_ArfGAP		0.383	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	G	NM_012287		195016553	-1	no_errors	ENST00000326793	ensembl	human	known	70_37	nonsense	SNP	0.032	T
ACPT	93650	genome.wustl.edu	37	19	51297070	51297070	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:51297070G>A	ENST00000270593.1	+	7	775	c.775G>A	c.(775-777)Ggg>Agg	p.G259R	ACPT_ENST00000270594.3_Missense_Mutation_p.G166R|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	259						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCAGCTGACAGGGGGTGAGGT	0.612																																																	0													59.0	58.0	59.0					19																	51297070		2203	4300	6503	SO:0001583	missense	93650			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.775G>A	19.37:g.51297070G>A	ENSP00000270593:p.Gly259Arg		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.G166R	ENST00000270593.1	37	c.496	CCDS12802.1	19	.	.	.	.	.	.	.	.	.	.	g	19.30	3.801212	0.70567	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.51574	0.7;0.7	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000001	T	0.72153	0.3425	M	0.86502	2.82	0.48571	D	0.999676	D	0.89917	1.0	D	0.91635	0.999	T	0.78605	-0.2139	10	0.87932	D	0	-21.4976	15.0193	0.71617	0.0:0.0:1.0:0.0	.	259	Q9BZG2	PPAT_HUMAN	R	259;166	ENSP00000270593:G259R;ENSP00000270594:G166R	ENSP00000270593:G259R	G	+	1	0	ACPT	55988882	1.000000	0.71417	0.992000	0.48379	0.812000	0.45895	5.392000	0.66272	2.218000	0.71995	0.561000	0.74099	GGG	ACPT	-	pfam_His_Pase_superF_clade-2		0.612	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	G	NM_033068		51297070	+1	no_errors	ENST00000270594	ensembl	human	known	70_37	missense	SNP	0.998	A
ACR	49	genome.wustl.edu	37	22	51182581	51182581	+	Nonsense_Mutation	SNP	C	C	T	rs139675699		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:51182581C>T	ENST00000216139.5	+	4	698	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	220	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TGGGCGCGTTCAGCCAACCAA	0.572																																																	0									stop/GLN	0,4406		0,0,2203	193.0	164.0	174.0		658	2.4	0.0	22	dbSNP_134	174	1,8599		0,1,4299	no	stop-gained	ACR	NM_001097.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		220/422	51182581	1,13005	2203	4300	6503	SO:0001587	stop_gained	49			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.658C>T	22.37:g.51182581C>T	ENSP00000216139:p.Gln220*		Q6ICK2	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q220*	ENST00000216139.5	37	c.658	CCDS14101.1	22	.	.	.	.	.	.	.	.	.	.	N	22.6	4.314042	0.81358	0.0	1.16E-4	ENSG00000100312	ENST00000216139	.	.	.	4.48	2.36	0.29203	.	1.108100	0.07077	N	0.836380	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-2.1298	1.9508	0.03366	0.2849:0.4508:0.1485:0.1159	.	.	.	.	X	220	.	ENSP00000216139:Q220X	Q	+	1	0	ACR	49529447	0.000000	0.05858	0.015000	0.15790	0.552000	0.35366	0.025000	0.13577	0.407000	0.25591	0.450000	0.29827	CAG	ACR	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6		0.572	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2	C	NM_001097		51182581	+1	no_errors	ENST00000216139	ensembl	human	known	70_37	nonsense	SNP	0.010	T
ACSM2A	123876	genome.wustl.edu	37	16	20492226	20492226	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:20492226G>C	ENST00000573854.1	+	12	1606	c.1492G>C	c.(1492-1494)Gac>Cac	p.D498H	ACSM2A_ENST00000417235.2_Missense_Mutation_p.D419H|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.D270H|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D498H|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D498H|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D498H	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	498					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CAGCAGCCCAGACCCCGTCCG	0.557																																																	0													78.0	72.0	74.0					16																	20492226		2202	4297	6499	SO:0001583	missense	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1492G>C	16.37:g.20492226G>C	ENSP00000459451:p.Asp498His		B3KTT9|O75202	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D498H	ENST00000573854.1	37	c.1492	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257295	0.39896	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	3.26	3.26	0.37387	.	0.285645	0.24303	N	0.039711	T	0.74884	0.3775	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.972	T	0.78790	-0.2066	10	0.87932	D	0	-9.5791	14.6156	0.68547	0.0:0.0:1.0:0.0	.	419;498	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	H	419;498;270;498	ENSP00000392169:D419H;ENSP00000219054:D498H;ENSP00000445082:D270H;ENSP00000379411:D498H	ENSP00000219054:D498H	D	+	1	0	ACSM2A	20399727	1.000000	0.71417	0.993000	0.49108	0.159000	0.22180	7.680000	0.84062	1.560000	0.49568	0.289000	0.19496	GAC	ACSM2A	-	NULL		0.557	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	G	NM_001010845		20492226	+1	no_errors	ENST00000219054	ensembl	human	known	70_37	missense	SNP	1.000	C
ACTR6	64431	genome.wustl.edu	37	12	100603861	100603861	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:100603861C>G	ENST00000188312.2	+	5	1155	c.390C>G	c.(388-390)ctC>ctG	p.L130L	ACTR6_ENST00000551617.1_Silent_p.L48L|ACTR6_ENST00000546902.1_Silent_p.L48L|ACTR6_ENST00000552376.1_Silent_p.L130L	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	130						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						CTGGGGCTCTCAGTGCACATA	0.318																																																	0													98.0	94.0	95.0					12																	100603861		2203	4296	6499	SO:0001819	synonymous_variant	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.390C>G	12.37:g.100603861C>G			B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Silent	SNP	pfam_Actin-like,smart_Actin-like	p.L130	ENST00000188312.2	37	c.390	CCDS9074.1	12																																																																																			ACTR6	-	pfam_Actin-like,smart_Actin-like		0.318	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1	C	NM_022496		100603861	+1	no_errors	ENST00000188312	ensembl	human	known	70_37	silent	SNP	0.996	G
DCST1	149095	genome.wustl.edu	37	1	155023353	155023353	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:155023353C>G	ENST00000295542.1	+	0	2226				ADAM15_ENST00000449910.2_5'Flank|ADAM15_ENST00000359280.4_5'Flank|ADAM15_ENST00000360674.4_5'Flank|ADAM15_ENST00000356955.2_5'Flank|ADAM15_ENST00000447332.3_5'Flank|ADAM15_ENST00000368413.1_5'Flank|ADAM15_ENST00000368410.2_5'Flank|DCST1_ENST00000423025.2_3'UTR|ADAM15_ENST00000368412.3_5'Flank|ADAM15_ENST00000531455.1_5'Flank|ADAM15_ENST00000271836.6_5'Flank|ADAM15_ENST00000355956.2_5'Flank	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAAGAGGCGTCCTGCTCGCTC	0.652											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29.0	30.0	29.0					1																	155023353		2203	4300	6503	SO:0001624	3_prime_UTR_variant	8751			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.*9C>G	1.37:g.155023353C>G		1767	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	RNA	SNP	-	NULL	ENST00000295542.1	37	NULL	CCDS1083.1	1																																																																																			ADAM15	-	-		0.652	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000099006.1	C	NM_152494		155023353	+1	no_errors	ENST00000473905	ensembl	human	known	70_37	rna	SNP	0.001	G
ADAMTSL1	92949	genome.wustl.edu	37	9	18777070	18777070	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:18777070C>G	ENST00000380548.4	+	19	3182	c.2843C>G	c.(2842-2844)tCa>tGa	p.S948*		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	948	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TACACCTGCTCAGCGGGCCCG	0.642																																																	0													40.0	47.0	45.0					9																	18777070		1954	4134	6088	SO:0001587	stop_gained	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2843C>G	9.37:g.18777070C>G	ENSP00000369921:p.Ser948*		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.S948*	ENST00000380548.4	37	c.2843	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.523985	0.98848	.	.	ENSG00000178031	ENST00000380548	.	.	.	5.53	3.65	0.41850	.	0.548748	0.18250	N	0.146982	.	.	.	.	.	.	0.26312	N	0.977809	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	6.5699	0.22533	0.0:0.6605:0.1408:0.1988	.	.	.	.	X	948	.	ENSP00000369921:S948X	S	+	2	0	ADAMTSL1	18767070	0.824000	0.29247	0.170000	0.22879	0.229000	0.25112	1.657000	0.37366	1.298000	0.44778	0.462000	0.41574	TCA	ADAMTSL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.642	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18777070	+1	no_errors	ENST00000380548	ensembl	human	novel	70_37	nonsense	SNP	0.277	G
AZIN2	113451	genome.wustl.edu	37	1	33549552	33549552	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:33549552C>T	ENST00000294517.6	+	5	692				ADC_ENST00000373440.1_Intron|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000358680.3_Intron|ADC_ENST00000373443.3_Intron|ADC_ENST00000398167.1_Intron|ADC_ENST00000373441.1_Intron	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN							agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TCTTGTCATTCAGGACGAGGT	0.552																																																	0													113.0	82.0	92.0					1																	33549552		2203	4300	6503	SO:0001627	intron_variant	0																														ENST00000294517.6:c.106-3C>T	1.37:g.33549552C>T			B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	RNA	SNP	-	NULL	ENST00000294517.6	37	NULL	CCDS375.1	1																																																																																			ADC	-	-		0.552	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	C			33549552	+1	no_errors	ENST00000478204	ensembl	human	known	70_37	rna	SNP	0.982	T
ADAR	103	genome.wustl.edu	37	1	154562688	154562688	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:154562688G>C	ENST00000368474.4	-	7	2667	c.2468C>G	c.(2467-2469)tCa>tGa	p.S823*	ADAR_ENST00000368471.3_Nonsense_Mutation_p.S528*|ADAR_ENST00000292205.5_Nonsense_Mutation_p.S866*	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	823					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGGGACCTTGAGAGGAGGAG	0.542																																																	0													93.0	92.0	92.0					1																	154562688		2203	4300	6503	SO:0001587	stop_gained	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2468C>G	1.37:g.154562688G>C	ENSP00000357459:p.Ser823*		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Nonsense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.S866*	ENST00000368474.4	37	c.2597	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.032497	0.98017	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471	.	.	.	5.09	3.2	0.36748	.	0.499292	0.17077	N	0.187952	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-9.3009	8.6164	0.33833	0.0859:0.1575:0.7566:0.0	.	.	.	.	X	866;823;528	.	ENSP00000292205:S866X	S	-	2	0	ADAR	152829312	0.993000	0.37304	0.952000	0.39060	0.998000	0.95712	2.686000	0.46968	1.496000	0.48567	0.563000	0.77884	TCA	ADAR	-	NULL		0.542	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	G	NM_001111		154562688	-1	no_errors	ENST00000292205	ensembl	human	known	70_37	nonsense	SNP	0.945	C
ADGB	79747	genome.wustl.edu	37	6	147103320	147103320	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:147103320G>C	ENST00000397944.3	+	30	4103	c.4027G>C	c.(4027-4029)Gag>Cag	p.E1343Q	ADGB_ENST00000523560.1_3'UTR|ADGB_ENST00000367493.3_Missense_Mutation_p.E658Q|ADGB_ENST00000367488.1_Missense_Mutation_p.E66Q	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	1343					oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						ACCTCGCTTTGAGCCTCAGGT	0.393																																																	0													65.0	67.0	66.0					6																	147103320		692	1591	2283	SO:0001583	missense	79747			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.4027G>C	6.37:g.147103320G>C	ENSP00000381036:p.Glu1343Gln		Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat	p.E1343Q	ENST00000397944.3	37	c.4027		6	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186301	0.38609	.	.	ENSG00000118492	ENST00000397944;ENST00000367493;ENST00000367490;ENST00000326916;ENST00000470716;ENST00000367488	T;T	0.48522	1.39;0.81	4.75	4.75	0.60458	.	.	.	.	.	T	0.22360	0.0539	L	0.31926	0.97	0.29427	N	0.860135	B;B	0.23937	0.022;0.094	B;B	0.23275	0.026;0.045	T	0.07558	-1.0766	9	0.32370	T	0.25	.	15.0214	0.71632	0.0:0.0:1.0:0.0	.	1343;288	Q8N7X0;Q8N7X0-2	CAN7L_HUMAN;.	Q	1343;658;301;66;66;66	ENSP00000381036:E1343Q;ENSP00000356460:E301Q	ENSP00000323839:E66Q	E	+	1	0	C6orf103	147145013	1.000000	0.71417	0.986000	0.45419	0.689000	0.40095	4.819000	0.62664	2.346000	0.79739	0.591000	0.81541	GAG	ADGB	-	NULL		0.393	ADGB-009	KNOWN	basic|appris_principal	protein_coding	ADGB	HGNC	protein_coding	OTTHUMT00000376350.2	G	NM_024694		147103320	+1	no_errors	ENST00000397944	ensembl	human	known	70_37	missense	SNP	0.992	C
ADIPOR2	79602	genome.wustl.edu	37	12	1863672	1863672	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:1863672C>G	ENST00000357103.4	+	2	414	c.163C>G	c.(163-165)Cat>Gat	p.H55D		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	55					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATCTTCCCATCATAAAAAAGT	0.428																																																	0													73.0	68.0	69.0					12																	1863672		2203	4300	6503	SO:0001583	missense	79602			AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.163C>G	12.37:g.1863672C>G	ENSP00000349616:p.His55Asp		Q53YY5|Q9H737	Missense_Mutation	SNP	pfam_HlyIII-related	p.H55D	ENST00000357103.4	37	c.163	CCDS8511.1	12	.	.	.	.	.	.	.	.	.	.	C	3.109	-0.183133	0.06340	.	.	ENSG00000006831	ENST00000357103	D	0.96334	-3.98	5.26	2.2	0.27929	.	1.046820	0.07422	N	0.894216	D	0.88400	0.6426	N	0.08118	0	0.20489	N	0.999899	B	0.13145	0.007	B	0.15484	0.013	T	0.79356	-0.1837	10	0.14252	T	0.57	-0.0725	3.951	0.09369	0.0:0.5765:0.201:0.2225	.	55	Q86V24	ADR2_HUMAN	D	55	ENSP00000349616:H55D	ENSP00000349616:H55D	H	+	1	0	ADIPOR2	1733933	0.053000	0.20554	0.982000	0.44146	0.049000	0.14656	0.159000	0.16442	0.772000	0.33382	-0.266000	0.10368	CAT	ADIPOR2	-	NULL		0.428	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR2	HGNC	protein_coding	OTTHUMT00000252447.2	C	NM_024551		1863672	+1	no_errors	ENST00000357103	ensembl	human	known	70_37	missense	SNP	0.799	G
RAP1A	5906	genome.wustl.edu	37	1	112106482	112106482	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:112106482C>G	ENST00000356415.1	+	1	292				ADORA3_ENST00000369717.4_Missense_Mutation_p.L31F			P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family						activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		ACTCAGGACTCAAGCAGCCCA	0.527																																																	0													118.0	117.0	118.0					1																	112106482		1965	4154	6119	SO:0001627	intron_variant	140			BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000356415.1:c.-28+21351C>G	1.37:g.112106482C>G			P10113	Missense_Mutation	SNP	NULL	p.L31F	ENST00000356415.1	37	c.93	CCDS840.1	1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.448738	0.00178	.	.	ENSG00000121933	ENST00000369717;ENST00000355437;ENST00000443498	T	0.21361	2.01	3.54	-7.07	0.01563	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B	0.21753	0.06	B	0.18263	0.021	T	0.34079	-0.9843	9	0.02654	T	1	.	0.9396	0.01352	0.2215:0.1307:0.3089:0.3389	.	31	Q5QNY7	.	F	31;31;25	ENSP00000358731:L31F	ENSP00000347612:L31F	L	-	3	2	ADORA3	111908005	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.300000	0.01138	-2.527000	0.00494	-1.464000	0.01018	TTG	ADORA3	-	NULL		0.527	RAP1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000033072.1	C	NM_002884		112106482	-1	no_errors	ENST00000369717	ensembl	human	known	70_37	missense	SNP	0.000	G
AFTPH	54812	genome.wustl.edu	37	2	64800109	64800109	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:64800109G>A	ENST00000422803.1	+	6	2615	c.2301G>A	c.(2299-2301)ctG>ctA	p.L767L	AFTPH_ENST00000238855.7_Silent_p.L767L|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Silent_p.L398L|AFTPH_ENST00000238856.4_Silent_p.L767L|AFTPH_ENST00000409933.1_Silent_p.L767L			Q6ULP2	AFTIN_HUMAN	aftiphilin	767					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AGGAACCACTGAAACCACTTT	0.428																																																	0													139.0	139.0	139.0					2																	64800109		2203	4300	6503	SO:0001819	synonymous_variant	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2301G>A	2.37:g.64800109G>A			D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	NULL	p.L767	ENST00000422803.1	37	c.2301		2																																																																																			AFTPH	-	NULL		0.428	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		G	NM_017657		64800109	+1	no_errors	ENST00000422803	ensembl	human	known	70_37	silent	SNP	1.000	A
AGAP3	116988	genome.wustl.edu	37	7	150814771	150814771	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:150814771G>A	ENST00000397238.2	+	5	613	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000479901.1_Missense_Mutation_p.E205K|AGAP3_ENST00000473312.1_Missense_Mutation_p.E205K|AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000335367.3_Missense_Mutation_p.E385K	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	169	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCTGGAGGATGAAATCAGTTT	0.562																																																	0													218.0	226.0	224.0					7																	150814771		2087	4252	6339	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.613G>A	7.37:g.150814771G>A	ENSP00000380413:p.Glu205Lys		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.E205K	ENST00000397238.2	37	c.613	CCDS43681.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.502959|5.502959	0.96371|0.96371	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355;ENST00000335367|ENST00000469901	T;T;T;T|.	0.21361|.	2.01;2.01;2.01;2.01|.	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	0.072167|.	0.53938|.	D|.	0.000051|.	T|T	0.72326|0.72326	0.3446|0.3446	M|M	0.67625|0.67625	2.065|2.065	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.966;0.991;0.993;1.0|.	P;D;P;D|.	0.73380|.	0.884;0.939;0.677;0.98|.	T|T	0.73069|0.73069	-0.4099|-0.4099	10|5	0.59425|.	D|.	0.04|.	.|.	15.9328|15.9328	0.79679|0.79679	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	205;385;205;205|.	C9J975;E7ESL9;Q96P47-4;E9PAL8|.	.;.;.;.|.	K|I	205;205;205;169;385|140	ENSP00000418921:E205K;ENSP00000418125:E205K;ENSP00000380413:E205K;ENSP00000335589:E385K|.	ENSP00000334157:E169K|.	E|M	+|+	1|3	0|0	AGAP3|AGAP3	150445704|150445704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.614000|9.614000	0.98353|0.98353	2.240000|2.240000	0.73641|0.73641	0.407000|0.407000	0.27541|0.27541	GAA|ATG	AGAP3	-	pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.562	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP3	HGNC	protein_coding	OTTHUMT00000351908.3	G	NM_031946		150814771	+1	no_errors	ENST00000397238	ensembl	human	known	70_37	missense	SNP	1.000	A
AGFG1	3267	genome.wustl.edu	37	2	228389568	228389568	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:228389568C>T	ENST00000310078.8	+	5	891	c.631C>T	c.(631-633)Cca>Tca	p.P211S	AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409979.2_Missense_Mutation_p.P211S|AGFG1_ENST00000409171.1_Missense_Mutation_p.P211S|AGFG1_ENST00000373671.3_Missense_Mutation_p.P211S|AGFG1_ENST00000409315.1_Missense_Mutation_p.P211S	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	211					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CTTTGCTGCTCCAGCTCCTCA	0.468																																																	0													161.0	144.0	150.0					2																	228389568		2203	4300	6503	SO:0001583	missense	3267				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.631C>T	2.37:g.228389568C>T	ENSP00000312059:p.Pro211Ser		B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.P211S	ENST00000310078.8	37	c.631	CCDS2467.1	2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326421	0.60743	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.27104	1.89;1.69;1.77;1.85;1.69	6.08	5.2	0.72013	.	0.053045	0.85682	N	0.000000	T	0.31009	0.0783	M	0.69823	2.125	0.58432	D	0.999998	P;B;B;B	0.44521	0.837;0.152;0.005;0.039	P;B;B;B	0.46172	0.506;0.06;0.011;0.027	T	0.17961	-1.0352	10	0.06891	T	0.86	-5.4527	12.1693	0.54148	0.0:0.8137:0.1209:0.0654	.	211;211;211;211	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	S	211;196;211;211;211;211;133	ENSP00000387282:P211S;ENSP00000312059:P211S;ENSP00000387154:P211S;ENSP00000362775:P211S;ENSP00000387218:P211S	ENSP00000312059:P211S	P	+	1	0	AGFG1	228097812	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.868000	0.69605	1.575000	0.49775	0.591000	0.81541	CCA	AGFG1	-	NULL		0.468	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGFG1	HGNC	protein_coding	OTTHUMT00000256895.2	C	NM_004504		228389568	+1	no_errors	ENST00000409979	ensembl	human	known	70_37	missense	SNP	1.000	T
HYKK	123688	genome.wustl.edu	37	15	78810942	78810942	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:78810942C>T	ENST00000569878.1	+	2	477				HYKK_ENST00000566332.1_Intron|HYKK_ENST00000563233.1_Intron|HYKK_ENST00000388988.4_Intron|HYKK_ENST00000408962.2_Intron|HYKK_ENST00000360519.3_Missense_Mutation_p.R164C			A2RU49	HYKK_HUMAN	hydroxylysine kinase							cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										gggtaagccccgcgttacacc	0.493																																																	0																																										SO:0001627	intron_variant	123688			BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"""5-hydroxylysine kinase"""	614681	"""aminoglycoside phosphotransferase domain containing 1"""	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.477+3493C>T	15.37:g.78810942C>T			B7ZMA5|F8W6X5|Q6ZTN0	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.R164C	ENST00000569878.1	37	c.490	CCDS42063.1	15	.	.	.	.	.	.	.	.	.	.	C	3.441	-0.114084	0.06881	.	.	ENSG00000188266	ENST00000360519	T	0.30714	1.52	0.502	-1.0	0.10196	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30534	-0.9975	5	0.66056	D	0.02	.	.	.	.	.	.	.	.	C	164	ENSP00000353710:R164C	ENSP00000353710:R164C	R	+	1	0	AGPHD1	76597997	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	-0.679000	0.05203	-0.676000	0.05238	0.121000	0.15741	CGC	AGPHD1	-	NULL		0.493	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	AGPHD1	HGNC	protein_coding	OTTHUMT00000435834.1	C	NM_001013619		78810942	+1	no_errors	ENST00000360519	ensembl	human	known	70_37	missense	SNP	0.001	T
AGT	183	genome.wustl.edu	37	1	230846455	230846455	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:230846455C>T	ENST00000366667.4	-	2	356	c.142G>A	c.(142-144)Gag>Aag	p.E48K	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	48					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGTACTCTCATTGTGGATG	0.597																																																	0													84.0	81.0	82.0					1																	230846455		2203	4300	6503	SO:0001583	missense	183			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.142G>A	1.37:g.230846455C>T	ENSP00000355627:p.Glu48Lys		Q16358|Q16359|Q96F91	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensngn	p.E48K	ENST00000366667.4	37	c.142	CCDS1585.1	1	.	.	.	.	.	.	.	.	.	.	C	0.669	-0.802696	0.02841	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.87412	-2.25	5.19	-1.2	0.09554	.	0.364043	0.31472	N	0.007583	T	0.57770	0.2076	N	0.01352	-0.895	0.19775	N	0.999954	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.56498	-0.7969	10	0.07325	T	0.83	.	7.0338	0.24983	0.0:0.3456:0.1543:0.5001	.	48;48;48	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	K	48	ENSP00000355627:E48K	ENSP00000355627:E48K	E	-	1	0	AGT	228913078	0.004000	0.15560	0.186000	0.23195	0.018000	0.09664	-0.194000	0.09559	0.012000	0.14892	-0.367000	0.07326	GAG	AGT	-	NULL		0.597	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGT	HGNC	protein_coding	OTTHUMT00000092102.1	C	NM_000029		230846455	-1	no_errors	ENST00000366667	ensembl	human	known	70_37	missense	SNP	0.017	T
AGTPBP1	23287	genome.wustl.edu	37	9	88162079	88162079	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:88162079G>A	ENST00000357081.3	-	26	3770	c.3626C>T	c.(3625-3627)tCt>tTt	p.S1209F	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.S1221F|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.S1169F			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1209					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						TTCTTGAGCAGAAGGTTCATA	0.373																																																	0													150.0	139.0	143.0					9																	88162079		2203	4300	6503	SO:0001583	missense	23287			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.3626C>T	9.37:g.88162079G>A	ENSP00000349592:p.Ser1209Phe		B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.S1221F	ENST00000357081.3	37	c.3662		9	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563998	0.45694	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.21191	2.07;2.07;2.02	6.03	4.1	0.47936	.	0.231603	0.45361	D	0.000371	T	0.13756	0.0333	N	0.14661	0.345	0.80722	D	1	B;P;P	0.48503	0.004;0.855;0.911	B;B;P	0.44811	0.007;0.36;0.461	T	0.03034	-1.1080	10	0.56958	D	0.05	-13.771	7.8775	0.29603	0.0652:0.1179:0.6949:0.122	.	1221;1209;1169	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	F	1209;1169;1221	ENSP00000349592:S1209F;ENSP00000365251:S1169F;ENSP00000365277:S1221F	ENSP00000349592:S1209F	S	-	2	0	AGTPBP1	87351899	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.683000	0.37638	1.563000	0.49615	0.655000	0.94253	TCT	AGTPBP1	-	NULL		0.373	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	G	NM_015239		88162079	-1	no_errors	ENST00000376109	ensembl	human	known	70_37	missense	SNP	1.000	A
AIP	9049	genome.wustl.edu	37	11	67256905	67256905	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:67256905C>G	ENST00000279146.3	+	3	565	c.447C>G	c.(445-447)atC>atG	p.I149M		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	149					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AGCCCCTCATCTTCCACATGG	0.682									Familial Isolated Pituitary Adenoma																																								0													39.0	42.0	41.0					11																	67256905		2200	4293	6493	SO:0001583	missense	9049	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.447C>G	11.37:g.67256905C>G	ENSP00000279146:p.Ile149Met		A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.I149M	ENST00000279146.3	37	c.447	CCDS8168.1	11	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842476	0.51057	.	.	ENSG00000110711	ENST00000279146;ENST00000529797	D;D	0.92149	-2.98;-2.98	5.54	4.63	0.57726	.	0.289012	0.37761	N	0.001941	D	0.90978	0.7163	M	0.67397	2.05	0.43347	D	0.995407	B	0.25719	0.132	B	0.36289	0.221	D	0.87189	0.2233	10	0.33141	T	0.24	-9.0528	9.4774	0.38880	0.0:0.837:0.0:0.163	.	149	O00170	AIP_HUMAN	M	149	ENSP00000279146:I149M;ENSP00000434580:I149M	ENSP00000279146:I149M	I	+	3	3	AIP	67013481	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	1.297000	0.33400	1.341000	0.45600	0.561000	0.74099	ATC	AIP	-	NULL		0.682	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIP	HGNC	protein_coding	OTTHUMT00000395516.1	C			67256905	+1	no_errors	ENST00000279146	ensembl	human	known	70_37	missense	SNP	1.000	G
AKAP17A	8227	genome.wustl.edu	37	X	1712389	1712389	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:1712389G>C	ENST00000313871.3	+	2	230	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	AKAP17A_ENST00000381261.3_Missense_Mutation_p.E12Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	12					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CGACACGTCTGAGGCCGTGGA	0.627																																																	0													146.0	139.0	141.0					X																	1712389		2203	4296	6499	SO:0001583	missense	8227			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.34G>C	X.37:g.1712389G>C	ENSP00000324827:p.Glu12Gln		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	NULL	p.E12Q	ENST00000313871.3	37	c.34	CCDS14116.1	X	.	.	.	.	.	.	.	.	.	.	g	11.26	1.585404	0.28268	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.34072	1.38;1.38	2.02	1.03	0.20045	.	0.000000	0.64402	U	0.000013	T	0.52773	0.1755	.	.	.	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.943;0.964	T	0.46652	-0.9176	9	0.62326	D	0.03	-28.8448	10.1355	0.42704	0.0:0.2024:0.7976:0.0	.	12;12	Q02040-3;Q02040	.;AK17A_HUMAN	Q	12	ENSP00000324827:E12Q;ENSP00000370660:E12Q	ENSP00000324827:E12Q	E	+	1	0	AKAP17A	1672389	1.000000	0.71417	0.010000	0.14722	0.315000	0.28087	7.091000	0.76923	-0.095000	0.12351	0.100000	0.15512	GAG	AKAP17A	-	NULL		0.627	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP17A	HGNC	protein_coding	OTTHUMT00000055609.2	G	NM_005088		1712389	+1	no_errors	ENST00000313871	ensembl	human	known	70_37	missense	SNP	1.000	C
AK9	221264	genome.wustl.edu	37	6	109894651	109894651	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:109894651C>G	ENST00000424296.2	-	21	2414	c.2338G>C	c.(2338-2340)Gaa>Caa	p.E780Q	AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	780					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TAACCTGCTTCAGGCTCAGTT	0.433																																																	0													133.0	116.0	121.0					6																	109894651		692	1591	2283	SO:0001583	missense	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.2338G>C	6.37:g.109894651C>G	ENSP00000410186:p.Glu780Gln		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.E780Q	ENST00000424296.2	37	c.2338	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028752	0.35797	.	.	ENSG00000155085	ENST00000424296	T	0.70631	-0.5	4.32	3.43	0.39272	.	.	.	.	.	T	0.37625	0.1010	N	0.24115	0.695	0.22656	N	0.998889	P	0.45348	0.856	B	0.40477	0.33	T	0.05886	-1.0858	8	.	.	.	.	10.2345	0.43275	0.0:0.799:0.201:0.0	.	780	Q5TCS8	AKD1_HUMAN	Q	780	ENSP00000410186:E780Q	.	E	-	1	0	AKD1	110001344	0.205000	0.23458	0.043000	0.18650	0.004000	0.04260	1.709000	0.37909	1.365000	0.46057	0.563000	0.77884	GAA	AKD1	-	NULL		0.433	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		C	NM_001145128		109894651	-1	no_errors	ENST00000424296	ensembl	human	known	70_37	missense	SNP	0.061	G
AKNA	80709	genome.wustl.edu	37	9	117108028	117108028	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:117108028G>A	ENST00000307564.4	-	18	3823				AKNA_ENST00000374075.5_Intron|AKNA_ENST00000223791.3_Intron|AKNA_ENST00000374079.4_Intron|AKNA_ENST00000374088.3_Intron|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						tcacagaactgatagaaaatg	0.473																																																	0																																										SO:0001627	intron_variant	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3661+114C>T	9.37:g.117108028G>A			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	RNA	SNP	-	NULL	ENST00000307564.4	37	NULL	CCDS6805.1	9																																																																																			AKNA	-	-		0.473	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	G	NM_030767		117108028	-1	no_errors	ENST00000492875	ensembl	human	known	70_37	rna	SNP	0.000	A
AKR1B15	441282	genome.wustl.edu	37	7	134254236	134254236	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:134254236G>A	ENST00000457545.2	+	5	650	c.390G>A	c.(388-390)ctG>ctA	p.L130L	AKR1B15_ENST00000423958.1_Silent_p.L102L	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	130							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ACCTGAAGCTGAGCTATCTGG	0.483																																																	0													136.0	131.0	133.0					7																	134254236		2203	4297	6500	SO:0001819	synonymous_variant	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.390G>A	7.37:g.134254236G>A			C9J3V2	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.L102	ENST00000457545.2	37	c.306	CCDS47715.2	7																																																																																			AKR1B15	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.483	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	AKR1B15	HGNC	protein_coding	OTTHUMT00000339726.2	G			134254236	+1	no_errors	ENST00000423958	ensembl	human	known	70_37	silent	SNP	1.000	A
ALDOA	226	genome.wustl.edu	37	16	30077131	30077131	+	5'UTR	SNP	C	C	G	rs574106376	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:30077131C>G	ENST00000564546.1	+	0	663				ALDOA_ENST00000395240.3_5'UTR|ALDOA_ENST00000564595.2_5'UTR|ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000569798.1_5'UTR|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000566897.1_Intron|ALDOA_ENST00000338110.5_Intron|ALDOA_ENST00000569545.1_Intron			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate						actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCGTTCCTCTCGGAACGCGCC	0.711													C|||	7	0.00139776	0.0053	0.0	5008	,	,		12078	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001623	5_prime_UTR_variant	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000564546.1:c.-139C>G	16.37:g.30077131C>G			B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	RNA	SNP	-	NULL	ENST00000564546.1	37	NULL	CCDS10668.1	16																																																																																			ALDOA	-	-		0.711	ALDOA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000255145.3	C	NM_000034		30077131	+1	no_errors	ENST00000566012	ensembl	human	known	70_37	rna	SNP	0.791	G
ALG13	79868	genome.wustl.edu	37	X	110988027	110988027	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:110988027C>T	ENST00000394780.3	+	24	2839	c.2827C>T	c.(2827-2829)Cct>Tct	p.P943S	ALG13_ENST00000251943.4_Intron|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	943	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						tcctcctcctcctcctcctgc	0.572																																																	0													33.0	25.0	28.0					X																	110988027		1568	3575	5143	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2827C>T	X.37:g.110988027C>T	ENSP00000378260:p.Pro943Ser		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor	p.P943S	ENST00000394780.3	37	c.2827	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.637031	0.00806	.	.	ENSG00000101901	ENST00000394780	T	0.08720	3.06	3.62	1.64	0.23874	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.046;0.027	B;B	0.18871	0.023;0.01	T	0.46373	-0.9196	9	0.07813	T	0.8	-0.3057	5.748	0.18130	0.0:0.6784:0.1966:0.125	.	865;943	Q9NP73-3;Q9NP73	.;ALG13_HUMAN	S	943	ENSP00000378260:P943S	ENSP00000378260:P943S	P	+	1	0	ALG13	110874683	0.004000	0.15560	0.008000	0.14137	0.028000	0.11728	0.324000	0.19610	0.695000	0.31675	0.529000	0.55759	CCT	ALG13	-	NULL		0.572	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	C	NM_018466		110988027	+1	no_errors	ENST00000394780	ensembl	human	putative	70_37	missense	SNP	0.003	T
ALKBH6	84964	genome.wustl.edu	37	19	36504311	36504311	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:36504311C>T	ENST00000252984.7	-	0	141				ALKBH6_ENST00000495116.2_Intron|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_5'UTR|ALKBH6_ENST00000486389.1_5'UTR|ALKBH6_ENST00000378875.3_Missense_Mutation_p.E25K|AC002116.7_ENST00000586962.1_RNA			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)							cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AACACCAACTCCTTGCACCCA	0.592																																																	0													155.0	124.0	134.0					19																	36504311		2203	4300	6503	SO:0001623	5_prime_UTR_variant	84964			BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.-12G>A	19.37:g.36504311C>T			A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.E25K	ENST00000252984.7	37	c.73		19	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213529	0.39102	.	.	ENSG00000239382	ENST00000378875	.	.	.	3.52	1.28	0.21552	.	.	.	.	.	T	0.27866	0.0686	N	0.08118	0	0.39918	D	0.974113	B;B	0.18741	0.03;0.013	B;B	0.21917	0.037;0.025	T	0.05338	-1.0891	8	0.27785	T	0.31	.	6.6548	0.22981	0.0:0.7085:0.1835:0.108	.	18;25	B4E3P3;Q3KRA9-2	.;.	K	25	.	ENSP00000368152:E25K	E	-	1	0	ALKBH6	41196151	0.149000	0.22717	0.089000	0.20774	0.574000	0.36063	1.364000	0.34171	0.433000	0.26313	0.585000	0.79938	GAG	ALKBH6	-	NULL		0.592	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	ALKBH6	HGNC	protein_coding	OTTHUMT00000109531.4	C	NM_032878		36504311	-1	no_errors	ENST00000378875	ensembl	human	known	70_37	missense	SNP	0.490	T
ALMS1	7840	genome.wustl.edu	37	2	73675942	73675942	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:73675942C>T	ENST00000264448.6	+	8	2396	c.2285C>T	c.(2284-2286)tCt>tTt	p.S762F	ALMS1_ENST00000377715.1_Missense_Mutation_p.S762F|ALMS1_ENST00000409009.1_Missense_Mutation_p.S720F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	762	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAGTCTAGTTCTTACTCACAA	0.453																																																	0													148.0	147.0	147.0					2																	73675942		1880	4114	5994	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2285C>T	2.37:g.73675942C>T	ENSP00000264448:p.Ser762Phe		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.S762F	ENST00000264448.6	37	c.2285	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650855	0.47362	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19250	3.05;3.04;2.16	4.43	1.55	0.23275	.	1.404420	0.04535	N	0.387099	T	0.35537	0.0935	L	0.48642	1.525	0.09310	N	1	D;D;D	0.76494	0.999;0.995;0.97	D;D;P	0.67548	0.952;0.938;0.769	T	0.10086	-1.0645	10	0.72032	D	0.01	.	3.5457	0.07828	0.2267:0.558:0.0:0.2153	.	762;720;762	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	F	720;762;762	ENSP00000386627:S720F;ENSP00000264448:S762F;ENSP00000366944:S762F	ENSP00000264448:S762F	S	+	2	0	ALMS1	73529450	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.422000	0.21296	0.340000	0.23745	0.591000	0.81541	TCT	ALMS1	-	NULL		0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	C	NM_015120		73675942	+1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	0.000	T
ALPK3	57538	genome.wustl.edu	37	15	85370781	85370781	+	Silent	SNP	C	C	T	rs373111546		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:85370781C>T	ENST00000258888.5	+	3	1022	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	285	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGACCACGCTCAAGTCCCGGT	0.562																																																	0													93.0	70.0	78.0					15																	85370781		2203	4299	6502	SO:0001819	synonymous_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.855C>T	15.37:g.85370781C>T			Q9P2L6	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.L285	ENST00000258888.5	37	c.855	CCDS10333.1	15																																																																																			ALPK3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.562	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	C	NM_020778		85370781	+1	no_errors	ENST00000258888	ensembl	human	known	70_37	silent	SNP	1.000	T
ALS2CR11	151254	genome.wustl.edu	37	2	202360633	202360633	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:202360633G>C	ENST00000286195.3	-	14	1610	c.1566C>G	c.(1564-1566)ttC>ttG	p.F522L	ALS2CR11_ENST00000482942.1_Intron|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.F522L|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	522										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATTTTGGTTTGAATTCTATAT	0.269																																																	0													59.0	64.0	62.0					2																	202360633		2191	4289	6480	SO:0001583	missense	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1566C>G	2.37:g.202360633G>C	ENSP00000286195:p.Phe522Leu		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.F522L	ENST00000286195.3	37	c.1566	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689864	0.29962	.	.	ENSG00000155754	ENST00000286195;ENST00000439140	T;T	0.45668	0.91;0.89	5.15	-1.35	0.09114	.	1.454600	0.04713	N	0.417993	T	0.16300	0.0392	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.003;0.004	T	0.14090	-1.0485	10	0.02654	T	1	.	1.1148	0.01712	0.1647:0.2724:0.2841:0.2788	.	522;522	E9PGG4;Q53TS8	.;AL2SA_HUMAN	L	522	ENSP00000286195:F522L;ENSP00000409937:F522L	ENSP00000286195:F522L	F	-	3	2	ALS2CR11	202068878	0.000000	0.05858	0.000000	0.03702	0.396000	0.30629	-0.011000	0.12721	-0.468000	0.06922	-0.310000	0.09108	TTC	ALS2CR11	-	NULL		0.269	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	G	NM_152525		202360633	-1	no_errors	ENST00000286195	ensembl	human	known	70_37	missense	SNP	0.000	C
AMMECR1	9949	genome.wustl.edu	37	X	109561025	109561025	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:109561025C>G	ENST00000262844.5	-	1	442	c.275G>C	c.(274-276)gGa>gCa	p.G92A	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_Missense_Mutation_p.G92A|AMMECR1_ENST00000496695.1_5'Flank	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	92										large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGTCCCCACTCCGCAGCTCGG	0.721																																																	0													25.0	23.0	24.0					X																	109561025		2093	4103	6196	SO:0001583	missense	9949			AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.275G>C	X.37:g.109561025C>G	ENSP00000262844:p.Gly92Ala		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1	p.G92A	ENST00000262844.5	37	c.275	CCDS14551.1	X	.	.	.	.	.	.	.	.	.	.	c	13.75	2.329229	0.41197	.	.	ENSG00000101935	ENST00000262844;ENST00000372059	.	.	.	4.4	2.45	0.29901	.	0.173944	0.49916	D	0.000128	T	0.15003	0.0362	N	0.00926	-1.1	0.80722	D	1	B;B	0.23854	0.092;0.055	B;B	0.27608	0.081;0.037	T	0.03335	-1.1047	8	.	.	.	-21.6101	4.6705	0.12687	0.1759:0.6193:0.0:0.2047	.	92;92	Q9Y4X0-3;Q9Y4X0	.;AMER1_HUMAN	A	92	.	.	G	-	2	0	AMMECR1	109447681	0.631000	0.27164	1.000000	0.80357	0.913000	0.54294	-0.441000	0.06879	0.792000	0.33850	0.271000	0.19318	GGA	AMMECR1	-	NULL		0.721	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMMECR1	HGNC	protein_coding	OTTHUMT00000057907.1	C			109561025	-1	no_errors	ENST00000262844	ensembl	human	known	70_37	missense	SNP	1.000	G
ANAPC15	25906	genome.wustl.edu	37	11	71818648	71818648	+	IGR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:71818648G>A	ENST00000227618.4	-	0	886				LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000439209.1_Intron|ANAPC15_ENST00000502597.2_Missense_Mutation_p.H23Y|LRTOMT_ENST00000307198.7_Intron|ANAPC15_ENST00000543050.1_Missense_Mutation_p.H108Y|ANAPC15_ENST00000543015.1_5'Flank|LRTOMT_ENST00000435085.1_Intron	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15						mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											actgagagatgaacctggaaa	0.507																																																	0																																										SO:0001628	intergenic_variant	25906			AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"""Anaphase promoting complex subunits"""	24531	protein-coding gene	gene with protein product		614717	"""chromosome 11 open reading frame 51"""	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865		11.37:g.71818648G>A			G3V1Q3|Q9CXK2|Q9Y269	Missense_Mutation	SNP	NULL	p.H108Y	ENST00000227618.4	37	c.322	CCDS8210.1	11	.	.	.	.	.	.	.	.	.	.	G	5.194	0.221348	0.09863	.	.	ENSG00000110200	ENST00000502597;ENST00000543050	T	0.65916	-0.18	3.28	2.36	0.29203	.	.	.	.	.	T	0.50820	0.1638	.	.	.	0.09310	N	0.999997	B	0.30455	0.28	B	0.28553	0.091	T	0.48906	-0.8993	8	0.87932	D	0	.	8.7503	0.34611	0.1178:0.0:0.8822:0.0	.	108	G5EA39	.	Y	23;108	ENSP00000437360:H108Y	ENSP00000441774:H23Y	H	-	1	0	C11orf51	71496296	0.025000	0.19082	0.003000	0.11579	0.026000	0.11368	1.114000	0.31196	0.954000	0.37851	-0.379000	0.06801	CAT	ANAPC15	-	NULL		0.507	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC15	HGNC	protein_coding	OTTHUMT00000396695.1	G	NM_014042		71818648	-1	no_errors	ENST00000543050	ensembl	human	putative	70_37	missense	SNP	0.002	A
ANAPC2	29882	genome.wustl.edu	37	9	140082173	140082173	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:140082173C>T	ENST00000323927.2	-	2	504	c.500G>A	c.(499-501)aGa>aAa	p.R167K	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TTGGAAGGTTCTGGGGGTGCT	0.547																																																	0													77.0	79.0	78.0					9																	140082173		2203	4300	6503	SO:0001583	missense	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.500G>A	9.37:g.140082173C>T	ENSP00000314004:p.Arg167Lys		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.R167K	ENST00000323927.2	37	c.500	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	C	3.051	-0.195297	0.06259	.	.	ENSG00000176248	ENST00000323927	T	0.75821	-0.97	4.43	3.44	0.39384	.	0.290817	0.40554	N	0.001063	T	0.41766	0.1173	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30327	-0.9982	10	0.05525	T	0.97	-18.5822	9.1778	0.37123	0.0:0.8814:0.0:0.1186	.	167;167	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	K	167	ENSP00000314004:R167K	ENSP00000314004:R167K	R	-	2	0	ANAPC2	139201994	0.233000	0.23772	0.934000	0.37439	0.928000	0.56348	1.166000	0.31834	2.295000	0.77249	0.462000	0.41574	AGA	ANAPC2	-	NULL		0.547	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	C	NM_013366		140082173	-1	no_errors	ENST00000323927	ensembl	human	known	70_37	missense	SNP	0.225	T
ANK3	288	genome.wustl.edu	37	10	61847972	61847972	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:61847972G>A	ENST00000280772.2	-	29	3664	c.3473C>T	c.(3472-3474)aCa>aTa	p.T1158I	ANK3_ENST00000503366.1_Missense_Mutation_p.T1159I|ANK3_ENST00000373827.2_Missense_Mutation_p.T1152I|ANK3_ENST00000355288.2_Missense_Mutation_p.T292I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1158	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGGGGCACTGTGGTGCTGCT	0.463																																																	0													129.0	130.0	130.0					10																	61847972		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3473C>T	10.37:g.61847972G>A	ENSP00000280772:p.Thr1158Ile		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.T1158I	ENST00000280772.2	37	c.3473	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776164	0.70107	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	6.17	6.17	0.99709	.	0.000000	0.43416	D	0.000572	T	0.42539	0.1207	L	0.50333	1.59	0.80722	D	1	B;D;P;B;P;B;B	0.63046	0.071;0.992;0.954;0.215;0.647;0.198;0.307	B;P;P;B;B;B;B	0.54924	0.04;0.764;0.478;0.101;0.131;0.171;0.051	T	0.04440	-1.0951	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1159;292;691;1152;1158;393;292	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	I	1158;1152;292;292;1159;1138;393;793;793;291;691	ENSP00000280772:T1158I;ENSP00000362933:T1152I;ENSP00000347436:T292I;ENSP00000425236:T1159I	ENSP00000280772:T1158I	T	-	2	0	ANK3	61517978	1.000000	0.71417	0.972000	0.41901	0.946000	0.59487	4.585000	0.60977	2.941000	0.99782	0.655000	0.94253	ACA	ANK3	-	NULL		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	G	NM_020987		61847972	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	A
ANKAR	150709	genome.wustl.edu	37	2	190611212	190611212	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:190611212G>C	ENST00000520309.1	+	23	4252	c.4164G>C	c.(4162-4164)aaG>aaC	p.K1388N	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.K1317N|ANKAR_ENST00000313581.4_Missense_Mutation_p.K1388N	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1388						integral component of membrane (GO:0016021)		p.K1317N(1)|p.K1388N(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CAACAAAAAAGACCAAGGATT	0.323																																																	2	Substitution - Missense(2)	breast(2)											81.0	92.0	88.0					2																	190611212		2203	4299	6502	SO:0001583	missense	150709			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.4164G>C	2.37:g.190611212G>C	ENSP00000427882:p.Lys1388Asn		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo	p.K1388N	ENST00000520309.1	37	c.4164	CCDS33351.2	2	.	.	.	.	.	.	.	.	.	.	G	7.613	0.675243	0.14841	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575	T;T;T	0.26067	1.76;1.76;1.76	4.33	2.44	0.29823	.	0.773395	0.11704	N	0.537695	T	0.18551	0.0445	L	0.27053	0.805	0.31386	N	0.678426	.	.	.	.	.	.	T	0.26849	-1.0091	8	0.42905	T	0.14	-7.7231	3.6725	0.08279	0.208:0.0:0.5749:0.2172	.	.	.	.	N	1388;1388;1317	ENSP00000427882:K1388N;ENSP00000313513:K1388N;ENSP00000393043:K1317N	ENSP00000313513:K1388N	K	+	3	2	ANKAR	190319457	0.001000	0.12720	0.382000	0.26119	0.978000	0.69477	-0.088000	0.11198	0.515000	0.28320	0.591000	0.81541	AAG	ANKAR	-	NULL		0.323	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKAR	HGNC	protein_coding	OTTHUMT00000335045.3	G	NM_144708		190611212	+1	no_errors	ENST00000313581	ensembl	human	known	70_37	missense	SNP	0.340	C
ANKFN1	162282	genome.wustl.edu	37	17	54535256	54535256	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:54535256G>C	ENST00000318698.2	+	13	1517	c.1482G>C	c.(1480-1482)ctG>ctC	p.L494L	ANKFN1_ENST00000566473.2_Silent_p.L494L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	494										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAAGGTGGCTGAGGCAAAGCA	0.478																																																	0													172.0	141.0	151.0					17																	54535256		2203	4300	6503	SO:0001819	synonymous_variant	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1482G>C	17.37:g.54535256G>C				Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.L494	ENST00000318698.2	37	c.1482	CCDS32686.1	17																																																																																			ANKFN1	-	NULL		0.478	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	G	NM_153228		54535256	+1	no_errors	ENST00000318698	ensembl	human	known	70_37	silent	SNP	0.816	C
ANKFN1	162282	genome.wustl.edu	37	17	54588061	54588061	+	Missense_Mutation	SNP	G	G	A	rs577183088		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:54588061G>A	ENST00000566473.2	+	20	2881	c.2881G>A	c.(2881-2883)Gag>Aag	p.E961K				Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	0										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TCCCCAGGGCGAGGGCCCAAA	0.652																																																	0																																										SO:0001583	missense	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000566473.2:c.2881G>A	17.37:g.54588061G>A	ENSP00000454224:p.Glu961Lys			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.E961K	ENST00000566473.2	37	c.2881		17																																																																																			ANKFN1	-	NULL		0.652	ANKFN1-002	NOVEL	basic|exp_conf	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000435456.2	G	NM_153228		54588061	+1	no_errors	ENST00000566473	ensembl	human	novel	70_37	missense	SNP	0.000	A
ANKRD12	23253	genome.wustl.edu	37	18	9257210	9257210	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:9257210C>T	ENST00000262126.4	+	9	4185	c.3945C>T	c.(3943-3945)gtC>gtT	p.V1315V	ANKRD12_ENST00000400020.3_Silent_p.V1292V|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Silent_p.V1292V	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1315						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGCCTTCTGTCATTTGTGAAC	0.403																																																	0													132.0	125.0	127.0					18																	9257210		2203	4300	6503	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3945C>T	18.37:g.9257210C>T			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V1315	ENST00000262126.4	37	c.3945	CCDS11843.1	18																																																																																			ANKRD12	-	NULL		0.403	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	C	NM_015208		9257210	+1	no_errors	ENST00000262126	ensembl	human	known	70_37	silent	SNP	0.996	T
ANKRD12	23253	genome.wustl.edu	37	18	9258423	9258423	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:9258423G>A	ENST00000262126.4	+	9	5398	c.5158G>A	c.(5158-5160)Gaa>Aaa	p.E1720K	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E1697K|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E1697K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1720						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGAATTAGAAGAAAATGCCGA	0.338																																																	0													66.0	64.0	65.0					18																	9258423		2203	4300	6503	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5158G>A	18.37:g.9258423G>A	ENSP00000262126:p.Glu1720Lys		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E1720K	ENST00000262126.4	37	c.5158	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717508	0.89205	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.59502	0.26;0.26	5.33	5.33	0.75918	.	0.065231	0.64402	D	0.000011	T	0.68714	0.3031	L	0.32530	0.975	0.51012	D	0.999903	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.71020	-0.4713	10	0.66056	D	0.02	-29.6558	19.3868	0.94560	0.0:0.0:1.0:0.0	.	1697;1720	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	K	1697;1720	ENSP00000372932:E1697K;ENSP00000262126:E1720K	ENSP00000262126:E1720K	E	+	1	0	ANKRD12	9248423	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.722000	0.74735	2.650000	0.89964	0.655000	0.94253	GAA	ANKRD12	-	NULL		0.338	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9258423	+1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	A
ANO1	55107	genome.wustl.edu	37	11	70028709	70028709	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:70028709C>G	ENST00000355303.5	+	24	2810	c.2505C>G	c.(2503-2505)ctC>ctG	p.L835L	ANO1_ENST00000538023.1_Silent_p.L835L|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Silent_p.L689L|ANO1_ENST00000530676.1_Silent_p.L689L|ANO1_ENST00000531349.1_Silent_p.L544L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	835					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ACCACACCCTCTCCTCCTTCA	0.582																																																	0													108.0	114.0	112.0					11																	70028709		2052	4198	6250	SO:0001819	synonymous_variant	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2505C>G	11.37:g.70028709C>G			A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	pfam_Anoctamin	p.L835	ENST00000355303.5	37	c.2505	CCDS44663.1	11																																																																																			ANO1	-	pfam_Anoctamin		0.582	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	C	NM_018043		70028709	+1	no_errors	ENST00000355303	ensembl	human	known	70_37	silent	SNP	0.962	G
ANP32B	10541	genome.wustl.edu	37	9	100777654	100777654	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:100777654G>C	ENST00000339399.4	+	7	892	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q		NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	233	Asp/Glu-rich (highly acidic).				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				agaggaggaagaaggtgggaa	0.403																																																	0													143.0	131.0	135.0					9																	100777654		1327	2309	3636	SO:0001583	missense	10541			Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"""ANP32 acidic nuclear phosphoproteins"""	16677	protein-coding gene	gene with protein product	"""acidic protein rich in leucines"""					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.697G>C	9.37:g.100777654G>C	ENSP00000345848:p.Glu233Gln		B2R9C7|O00655|P78458|P78459	Missense_Mutation	SNP	smart_U2A'_phosphoprotein32A_C	p.E233Q	ENST00000339399.4	37	c.697	CCDS6732.1	9	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560130	0.27827	.	.	ENSG00000136938	ENST00000447173;ENST00000339399	T	0.36520	1.25	5.17	5.17	0.71159	.	0.310015	0.38720	N	0.001588	T	0.26629	0.0651	N	0.24115	0.695	0.47065	D	0.999308	P	0.43826	0.818	B	0.37833	0.259	T	0.03335	-1.1047	10	0.31617	T	0.26	-11.9245	17.821	0.88650	0.0:0.0:1.0:0.0	.	233	Q92688	AN32B_HUMAN	Q	152;233	ENSP00000345848:E233Q	ENSP00000345848:E233Q	E	+	1	0	ANP32B	99817475	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	3.956000	0.56722	2.595000	0.87683	0.650000	0.86243	GAA	ANP32B	-	NULL		0.403	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32B	HGNC	protein_coding	OTTHUMT00000053346.4	G	NM_006401		100777654	+1	no_errors	ENST00000339399	ensembl	human	known	70_37	missense	SNP	1.000	C
AP1S3	130340	genome.wustl.edu	37	2	224629953	224629953	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:224629953C>T	ENST00000446015.2	-	4	439	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	AP1S3_ENST00000396653.2_3'UTR|AP1S3_ENST00000396654.2_Missense_Mutation_p.E136K|AP1S3_ENST00000443700.1_Missense_Mutation_p.E136K			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	136					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane coat (GO:0030117)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAGAGTCTTCAATGGCTTTG	0.348																																																	0													138.0	124.0	129.0					2																	224629953		1891	4131	6022	SO:0001583	missense	130340			AF393369	CCDS42827.1	2q36.3	2008-02-05			ENSG00000152056	ENSG00000152056			18971	protein-coding gene	gene with protein product		615781					Standard	NR_110905		Approved		uc002vnn.3	Q96PC3	OTTHUMG00000133165	ENST00000446015.2:c.406G>A	2.37:g.224629953C>T	ENSP00000388738:p.Glu136Lys		B4DQZ1|Q8WTY1|Q96DD1	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.E136K	ENST00000446015.2	37	c.406		2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770701	0.90108	.	.	ENSG00000152056	ENST00000443700;ENST00000396654;ENST00000446015	.	.	.	5.61	5.61	0.85477	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.73001	0.3531	M	0.67625	2.065	0.80722	D	1	D;B	0.53745	0.962;0.027	P;B	0.53490	0.727;0.036	T	0.71217	-0.4658	9	0.37606	T	0.19	.	19.6394	0.95751	0.0:1.0:0.0:0.0	.	136;136	Q96PC3;Q96PC3-4	AP1S3_HUMAN;.	K	136	.	ENSP00000379891:E136K	E	-	1	0	AP1S3	224338197	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.654000	0.67974	2.637000	0.89404	0.655000	0.94253	GAA	AP1S3	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu		0.348	AP1S3-008	KNOWN	basic|appris_principal	protein_coding	AP1S3	HGNC	protein_coding	OTTHUMT00000383293.1	C			224629953	-1	no_errors	ENST00000443700	ensembl	human	known	70_37	missense	SNP	1.000	T
AP2A2	161	genome.wustl.edu	37	11	994122	994122	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:994122C>G	ENST00000448903.2	+	14	1974	c.1833C>G	c.(1831-1833)atC>atG	p.I611M	AP2A2_ENST00000332231.5_Missense_Mutation_p.I612M|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	611					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGTCCTCCATCTTGGCAAAGC	0.627																																																	0													58.0	70.0	66.0					11																	994122		1976	4139	6115	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1833C>G	11.37:g.994122C>G	ENSP00000413234:p.Ile611Met		O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.I612M	ENST00000448903.2	37	c.1836	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946734	0.34377	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.18657	2.2;2.21	3.16	2.24	0.28232	Armadillo-like helical (1);	0.126279	0.52532	D	0.000069	T	0.39253	0.1071	M	0.86178	2.8	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	P;P	0.59012	0.85;0.833	T	0.23904	-1.0175	10	0.52906	T	0.07	-53.2188	6.4782	0.22047	0.0:0.7001:0.0:0.2999	.	612;611	O94973-2;O94973	.;AP2A2_HUMAN	M	611;612;612;348;351	ENSP00000413234:I611M;ENSP00000327694:I612M	ENSP00000327694:I612M	I	+	3	3	AP2A2	984122	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.355000	0.34068	0.905000	0.36596	0.561000	0.74099	ATC	AP2A2	-	pirsf_AP2_complex_asu		0.627	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2	C	NM_012305		994122	+1	no_errors	ENST00000332231	ensembl	human	known	70_37	missense	SNP	1.000	G
AP2B1	163	genome.wustl.edu	37	17	33925300	33925300	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:33925300G>T	ENST00000262325.7	+	3	642	c.89G>T	c.(88-90)aGa>aTa	p.R30I	AP2B1_ENST00000589344.1_Missense_Mutation_p.R30I|AP2B1_ENST00000592545.1_Missense_Mutation_p.R30I|AP2B1_ENST00000538556.1_5'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.R30I|AP2B1_ENST00000312678.8_Missense_Mutation_p.R30I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	30					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AAAGAAAAGAGAAAGGAGGCT	0.423																																																	0													113.0	103.0	106.0					17																	33925300		2203	4300	6503	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.89G>T	17.37:g.33925300G>T	ENSP00000262325:p.Arg30Ile		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.R30I	ENST00000262325.7	37	c.89	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870377	0.72065	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000537622	T;T;T	0.30714	1.52;1.52;1.52	5.01	5.01	0.66863	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	L	0.49256	1.55	0.80722	D	1	B;B;B	0.31625	0.27;0.332;0.005	P;P;B	0.45794	0.493;0.475;0.015	T	0.46020	-0.9221	10	0.87932	D	0	-17.2566	17.7422	0.88410	0.0:0.0:1.0:0.0	.	30;30;30	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	I	30	ENSP00000262325:R30I;ENSP00000314414:R30I;ENSP00000437413:R30I	ENSP00000262325:R30I	R	+	2	0	AP2B1	30949413	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.567000	0.53813	2.509000	0.84616	0.306000	0.20318	AGA	AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.423	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	G			33925300	+1	no_errors	ENST00000312678	ensembl	human	known	70_37	missense	SNP	1.000	T
AP4B1	10717	genome.wustl.edu	37	1	114438460	114438460	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:114438460G>A	ENST00000369569.1	-	9	1991	c.1711C>T	c.(1711-1713)Cac>Tac	p.H571Y	AP4B1_ENST00000369567.1_Missense_Mutation_p.H403Y|AP4B1_ENST00000256658.4_Missense_Mutation_p.H571Y|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	571					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGCCCAGTGGGCTTTGCCA	0.507																																																	0													76.0	77.0	76.0					1																	114438460		2203	4300	6503	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1711C>T	1.37:g.114438460G>A	ENSP00000358582:p.His571Tyr		B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.H571Y	ENST00000369569.1	37	c.1711	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	G	9.145	1.014872	0.19355	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.12672	2.66;2.66;2.66	5.71	4.61	0.57282	Armadillo-type fold (1);	0.674756	0.16480	N	0.212582	T	0.04724	0.0128	N	0.14661	0.345	0.80722	D	1	B;B;B	0.16396	0.017;0.01;0.017	B;B;B	0.22753	0.041;0.007;0.034	T	0.27536	-1.0071	10	0.40728	T	0.16	-19.915	15.5947	0.76569	0.0767:0.0:0.9233:0.0	.	571;403;571	B2RBF6;B1ALD0;Q9Y6B7	.;.;AP4B1_HUMAN	Y	403;571;571	ENSP00000358580:H403Y;ENSP00000358582:H571Y;ENSP00000256658:H571Y	ENSP00000256658:H571Y	H	-	1	0	AP4B1	114239983	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.321000	0.51999	2.691000	0.91804	0.563000	0.77884	CAC	AP4B1	-	superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.507	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	G	NM_006594		114438460	-1	no_errors	ENST00000256658	ensembl	human	known	70_37	missense	SNP	0.996	A
APBA2	321	genome.wustl.edu	37	15	29346175	29346175	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:29346175G>C	ENST00000558402.1	+	5	687	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	APBA2_ENST00000411764.1_Missense_Mutation_p.E30Q|APBA2_ENST00000558330.1_Missense_Mutation_p.E30Q|APBA2_ENST00000558259.1_Missense_Mutation_p.E30Q|APBA2_ENST00000561069.1_Missense_Mutation_p.E30Q			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	30					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCAGGAGCCCGAGAGCGAGGA	0.667																																																	0													44.0	49.0	47.0					15																	29346175		2203	4300	6503	SO:0001583	missense	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.88G>C	15.37:g.29346175G>C	ENSP00000453293:p.Glu30Gln		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.E30Q	ENST00000558402.1	37	c.88	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169640	0.09339	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.52526	0.66	5.06	2.77	0.32553	.	0.345014	0.28198	N	0.016238	T	0.39835	0.1093	L	0.59436	1.845	0.09310	N	1	B;B;B	0.26975	0.165;0.165;0.165	B;B;B	0.25405	0.06;0.055;0.055	T	0.32375	-0.9909	10	0.45353	T	0.12	.	7.4055	0.26987	0.1621:0.1527:0.6852:0.0	.	30;30;30	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	Q	30	ENSP00000409312:E30Q	ENSP00000219865:E30Q	E	+	1	0	APBA2	27133467	0.910000	0.30920	0.010000	0.14722	0.004000	0.04260	2.794000	0.47853	1.079000	0.41038	0.650000	0.86243	GAG	APBA2	-	NULL		0.667	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	G	NM_005503		29346175	+1	no_errors	ENST00000558259	ensembl	human	known	70_37	missense	SNP	0.016	C
APTX	54840	genome.wustl.edu	37	9	32973534	32973534	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:32973534G>C	ENST00000379819.1	-	8	1032	c.1033C>G	c.(1033-1035)Cag>Gag	p.Q345E	APTX_ENST00000468275.1_Missense_Mutation_p.Q331E|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000476858.1_Missense_Mutation_p.Q291E|APTX_ENST00000379813.3_Missense_Mutation_p.Q331E|APTX_ENST00000379817.2_Missense_Mutation_p.Q331E|APTX_ENST00000397172.3_Missense_Mutation_p.Q273E|APTX_ENST00000463596.1_Missense_Mutation_p.Q331E|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000379825.2_3'UTR			Q7Z2E3	APTX_HUMAN	aprataxin	345					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TCTTTCAGCTGAGGAATGGAA	0.547								Editing and processing nucleases																																									0													83.0	76.0	78.0					9																	32973534		2203	4300	6503	SO:0001583	missense	54840			AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.1033C>G	9.37:g.32973534G>C	ENSP00000369147:p.Gln345Glu		A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	pfam_Histidine_triad_HIT,superfamily_HIT-like,superfamily_SMAD_FHA_domain,pfscan_Histidine_triad_HIT	p.Q345E	ENST00000379819.1	37	c.1033		9	.	.	.	.	.	.	.	.	.	.	G	9.839	1.190548	0.21954	.	.	ENSG00000137074	ENST00000397172;ENST00000379817;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813	D;D;D;D;D;D;D	0.91237	-1.78;-1.82;-1.83;-1.82;-1.82;-2.81;-1.82	5.43	4.48	0.54585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.177021	0.49916	D	0.000123	D	0.86727	0.6002	L	0.42581	1.335	0.80722	D	1	B;B;B	0.24882	0.095;0.113;0.069	B;B;B	0.30251	0.049;0.113;0.053	T	0.82378	-0.0487	10	0.25751	T	0.34	-14.8109	13.3758	0.60739	0.0:0.1591:0.8409:0.0	.	273;277;345	Q7Z2E3-3;Q7Z2E3-5;Q7Z2E3	.;.;APTX_HUMAN	E	273;331;345;331;331;291;326;331	ENSP00000380357:Q273E;ENSP00000369145:Q331E;ENSP00000369147:Q345E;ENSP00000420263:Q331E;ENSP00000419846:Q331E;ENSP00000419042:Q291E;ENSP00000369141:Q331E	ENSP00000339407:Q326E	Q	-	1	0	APTX	32963534	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.317000	0.51968	2.546000	0.85860	0.655000	0.94253	CAG	APTX	-	NULL		0.547	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	APTX	HGNC	protein_coding	OTTHUMT00000052028.2	G	NM_017692		32973534	-1	no_errors	ENST00000379819	ensembl	human	known	70_37	missense	SNP	1.000	C
LVRN	206338	genome.wustl.edu	37	5	115319106	115319106	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:115319106T>A	ENST00000357872.4	+	2	942	c.818T>A	c.(817-819)cTt>cAt	p.L273H	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		273						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TATGTGGCCCTTTCCAACATG	0.368																																																	0													102.0	103.0	103.0					5																	115319106		2202	4300	6502	SO:0001583	missense	206338																														ENST00000357872.4:c.818T>A	5.37:g.115319106T>A	ENSP00000350541:p.Leu273His		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L273H	ENST00000357872.4	37	c.818	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431468	0.83776	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.06849	3.25	5.54	5.54	0.83059	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.088985	0.47852	D	0.000212	T	0.32224	0.0822	M	0.93462	3.42	0.80722	D	1	D	0.56968	0.978	P	0.54499	0.754	T	0.45293	-0.9271	10	0.87932	D	0	.	14.9544	0.71101	0.0:0.0:0.0:1.0	.	273	Q6Q4G3	AMPQ_HUMAN	H	273;262	ENSP00000350541:L273H	ENSP00000350541:L273H	L	+	2	0	AC010282.1	115347005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.358000	0.79466	2.234000	0.73211	0.528000	0.53228	CTT	AQPEP	-	pfam_Peptidase_M1_N		0.368	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	T			115319106	+1	no_errors	ENST00000357872	ensembl	human	known	70_37	missense	SNP	1.000	A
AR	367	genome.wustl.edu	37	X	66765338	66765338	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:66765338C>T	ENST00000374690.3	+	1	874	c.350C>T	c.(349-351)tCa>tTa	p.S117L	AR_ENST00000504326.1_Missense_Mutation_p.S117L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.S117L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	115	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CAGCAACCTTCACAGCCGCAG	0.677									Androgen Insensitivity Syndrome																																								0													24.0	18.0	20.0					X																	66765338		2196	4284	6480	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.350C>T	X.37:g.66765338C>T	ENSP00000363822:p.Ser117Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.S117L	ENST00000374690.3	37	c.350	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	c	8.546	0.874329	0.17395	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;T;D	0.95518	-3.73;-0.26;-3.73	5.34	4.48	0.54585	.	0.612210	0.15129	N	0.278946	D	0.94506	0.8231	M	0.82132	2.575	0.26510	N	0.974618	B;B;B	0.34103	0.005;0.006;0.437	B;B;B	0.40134	0.044;0.062;0.32	D	0.86231	0.1637	10	0.10636	T	0.68	.	8.4736	0.32999	0.0:0.8945:0.0:0.1055	.	117;117;115	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	117;117;117;109	ENSP00000363822:S117L;ENSP00000421155:S117L;ENSP00000379359:S117L	ENSP00000363822:S117L	S	+	2	0	AR	66682063	1.000000	0.71417	0.487000	0.27428	0.028000	0.11728	1.087000	0.30865	1.221000	0.43506	0.597000	0.82753	TCA	AR	-	pfam_Andrgn_rcpt		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	C	NM_000044		66765338	+1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	0.736	T
ARFGEF1	10565	genome.wustl.edu	37	8	68116935	68116935	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:68116935C>T	ENST00000262215.3	-	35	5328	c.4939G>A	c.(4939-4941)Gaa>Aaa	p.E1647K	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.E485K|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E1101K|ARFGEF1_ENST00000517955.1_5'Flank	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1647					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCTAAGTTTTCTGCATCTTCT	0.443																																																	0													169.0	143.0	152.0					8																	68116935		2203	4300	6503	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4939G>A	8.37:g.68116935C>T	ENSP00000262215:p.Glu1647Lys		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E1647K	ENST00000262215.3	37	c.4939	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312866	0.81358	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.53640	0.61;0.61;0.61	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.46157	1.445	0.80722	D	1	D;B;B;B	0.62365	0.991;0.047;0.212;0.047	P;B;B;B	0.58721	0.844;0.027;0.086;0.027	T	0.54417	-0.8297	10	0.42905	T	0.14	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	1647;1125;471;1101	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	K	1101;1647;485	ENSP00000428429:E1101K;ENSP00000262215:E1647K;ENSP00000430891:E485K	ENSP00000262215:E1647K	E	-	1	0	ARFGEF1	68279489	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.026000	0.70873	2.884000	0.98904	0.655000	0.94253	GAA	ARFGEF1	-	NULL		0.443	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	C	NM_006421		68116935	-1	no_errors	ENST00000262215	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP42	143872	genome.wustl.edu	37	11	100845331	100845331	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:100845331G>C	ENST00000298815.8	+	19	1855	c.1852G>C	c.(1852-1854)Gat>Cat	p.D618H	ARHGAP42_ENST00000524892.2_Missense_Mutation_p.D584H	NM_152432.2	NP_689645.2	A6NI28	RHG42_HUMAN	Rho GTPase activating protein 42	618					signal transduction (GO:0007165)	intracellular (GO:0005622)	GTPase activator activity (GO:0005096)			endometrium(3)|skin(2)	5						GGCCGAACCTGATAGTAAGTG	0.483																																																	0													52.0	49.0	50.0					11																	100845331		692	1591	2283	SO:0001583	missense	143872					11q22.1	2012-04-19			ENSG00000165895	ENSG00000165895		"""Rho GTPase activating proteins"""	26545	protein-coding gene	gene with protein product		615936				18954304	Standard	NM_152432		Approved	FLJ32810, GRAF3	uc001pge.2	A6NI28	OTTHUMG00000167530	ENST00000298815.8:c.1852G>C	11.37:g.100845331G>C	ENSP00000298815:p.Asp618His		Q96M56	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.D618H	ENST00000298815.8	37	c.1852		11	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469790	0.63625	.	.	ENSG00000165895	ENST00000524892;ENST00000298815	T;T	0.07688	3.17;3.26	6.17	6.17	0.99709	.	0.341582	0.28343	N	0.015688	T	0.19248	0.0462	L	0.48642	1.525	0.80722	D	1	D	0.54397	0.966	P	0.52710	0.707	T	0.00006	-1.2524	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	618	A6NI28	RHG42_HUMAN	H	584;618	ENSP00000431776:D584H;ENSP00000298815:D618H	ENSP00000298815:D618H	D	+	1	0	ARHGAP42	100350541	1.000000	0.71417	0.180000	0.23079	0.045000	0.14185	9.212000	0.95126	2.941000	0.99782	0.655000	0.94253	GAT	ARHGAP42	-	NULL		0.483	ARHGAP42-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP42	HGNC	protein_coding		G	NM_152432		100845331	+1	no_errors	ENST00000298815	ensembl	human	known	70_37	missense	SNP	0.998	C
ARHGEF28	64283	genome.wustl.edu	37	5	73153511	73153511	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:73153511C>T	ENST00000426542.2	+	14	1841	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	ARHGEF28_ENST00000296794.6_Silent_p.I607I|ARHGEF28_ENST00000513042.2_Silent_p.I607I|ARHGEF28_ENST00000296799.4_Silent_p.I294I|ARHGEF28_ENST00000437974.1_Silent_p.I607I|ARHGEF28_ENST00000287898.5_Silent_p.I607I|ARHGEF28_ENST00000545377.1_Silent_p.I607I			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	607					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										ATAAATACATCATACCTGCCA	0.353																																																	0													65.0	65.0	65.0					5																	73153511		1878	4097	5975	SO:0001819	synonymous_variant	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1821C>T	5.37:g.73153511C>T			B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.I607	ENST00000426542.2	37	c.1821	CCDS54870.1	5																																																																																			ARHGEF28	-	NULL		0.353	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	C			73153511	+1	no_errors	ENST00000545377	ensembl	human	known	70_37	silent	SNP	0.982	T
ARHGEF4	50649	genome.wustl.edu	37	2	131797983	131797983	+	Silent	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:131797983G>T	ENST00000326016.5	+	8	1593	c.1074G>T	c.(1072-1074)ctG>ctT	p.L358L	ARHGEF4_ENST00000525839.1_Silent_p.L358L|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000355771.3_Silent_p.L287L|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000392953.3_Silent_p.L358L	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	358	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCCCACACCTGAGCGAGCTGG	0.682																																																	0													19.0	20.0	20.0					2																	131797983		2194	4297	6491	SO:0001819	synonymous_variant	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1074G>T	2.37:g.131797983G>T			Q9HDC6|Q9UPP0	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.L358	ENST00000326016.5	37	c.1074	CCDS2165.1	2																																																																																			ARHGEF4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.682	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	G			131797983	+1	no_errors	ENST00000326016	ensembl	human	known	70_37	silent	SNP	0.993	T
ARMCX4	100131755	genome.wustl.edu	37	X	100747723	100747723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:100747723C>T	ENST00000423738.3	+	2	4349	c.4147C>T	c.(4147-4149)Cag>Tag	p.Q1383*		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	0						integral component of membrane (GO:0016021)				lung(1)	1						GACACTTGATCAGTCTGGTGG	0.602																																																	0																																										SO:0001587	stop_gained	100131755			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.4147C>T	X.37:g.100747723C>T	ENSP00000404304:p.Gln1383*		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.Q1383*	ENST00000423738.3	37	c.4147	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	42	9.297897	0.99128	.	.	ENSG00000196440	ENST00000423738	.	.	.	3.04	2.14	0.27477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.3284	0.07075	0.0:0.5589:0.2767:0.1644	.	.	.	.	X	1487	.	.	Q	+	1	0	ARMCX4	100634379	0.000000	0.05858	0.352000	0.25734	0.821000	0.46438	0.174000	0.16743	1.478000	0.48253	0.271000	0.19318	CAG	ARMCX4	-	NULL		0.602	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	C	NM_001256155		100747723	+1	no_errors	ENST00000423738	ensembl	human	putative	70_37	nonsense	SNP	0.164	T
ARMCX1	51309	genome.wustl.edu	37	X	100808136	100808136	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:100808136G>C	ENST00000372829.3	+	4	594	c.223G>C	c.(223-225)Gag>Cag	p.E75Q		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	75						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GGGTGATTCAGAGGTCAAGCC	0.562																																																	0													72.0	63.0	66.0					X																	100808136		2203	4300	6503	SO:0001583	missense	51309			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.223G>C	X.37:g.100808136G>C	ENSP00000361917:p.Glu75Gln		Q53HK2|Q9H2Q0	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E75Q	ENST00000372829.3	37	c.223	CCDS14487.1	X	.	.	.	.	.	.	.	.	.	.	a	6.314	0.425957	0.11987	.	.	ENSG00000126947	ENST00000372829	T	0.25085	1.82	3.62	1.22	0.21188	.	.	.	.	.	T	0.11067	0.0270	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.31861	-0.9928	9	0.28530	T	0.3	1.7977	4.5247	0.11976	0.5968:0.0:0.4032:0.0	.	75	Q9P291	ARMX1_HUMAN	Q	75	ENSP00000361917:E75Q	ENSP00000361917:E75Q	E	+	1	0	ARMCX1	100694792	0.043000	0.20138	0.002000	0.10522	0.019000	0.09904	0.507000	0.22675	0.124000	0.18369	-0.562000	0.04174	GAG	ARMCX1	-	NULL		0.562	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX1	HGNC	protein_coding	OTTHUMT00000057561.1	G	NM_016608		100808136	+1	no_errors	ENST00000372829	ensembl	human	known	70_37	missense	SNP	0.002	C
ARPC5	10092	genome.wustl.edu	37	1	183595671	183595671	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:183595671G>A	ENST00000359856.6	-	0	1518				ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000367534.1_Intron|ARPC5_ENST00000294742.6_3'UTR	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa						actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						CTAAAACACAGAATGTGTATT	0.348																																					Melanoma(136;1596 1789 3041 4830 41075)												0																																										SO:0001624	3_prime_UTR_variant	10092			AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.*996C>T	1.37:g.183595671G>A			A6NEC4|Q6PG42	RNA	SNP	-	NULL	ENST00000359856.6	37	NULL	CCDS1357.1	1																																																																																			ARPC5	-	-		0.348	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARPC5	HGNC	protein_coding	OTTHUMT00000085477.1	G	NM_005717		183595671	-1	no_errors	ENST00000462965	ensembl	human	known	70_37	rna	SNP	0.170	A
ARRB1	408	genome.wustl.edu	37	11	74994373	74994373	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:74994373G>C	ENST00000420843.2	-	5	409	c.312C>G	c.(310-312)ctC>ctG	p.L104L	ARRB1_ENST00000393505.4_Silent_p.L104L|ARRB1_ENST00000360025.3_Silent_p.L104L	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	104	Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GCTTCTTGATGAGGCGTTCCT	0.607																																																	0													65.0	63.0	64.0					11																	74994373		2200	4293	6493	SO:0001819	synonymous_variant	408			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.312C>G	11.37:g.74994373G>C			B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.L104	ENST00000420843.2	37	c.312	CCDS44684.1	11																																																																																			ARRB1	-	pfam_Arrestin-like_N,superfamily_Ig_E-set		0.607	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	G	NM_004041		74994373	-1	no_errors	ENST00000393505	ensembl	human	known	70_37	silent	SNP	1.000	C
ARSF	416	genome.wustl.edu	37	X	3030566	3030566	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:3030566C>T	ENST00000381127.1	+	11	1963	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F	ARSF_ENST00000537104.1_Missense_Mutation_p.S581F|ARSF_ENST00000359361.2_Missense_Mutation_p.S581F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	581					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGGAAGTCTCTCAGCCTCGG	0.488																																																	0													50.0	39.0	42.0					X																	3030566		2203	4300	6503	SO:0001583	missense	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1742C>T	X.37:g.3030566C>T	ENSP00000370519:p.Ser581Phe		Q8TCC5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S581F	ENST00000381127.1	37	c.1742	CCDS14123.1	X	.	.	.	.	.	.	.	.	.	.	C	7.431	0.638719	0.14386	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95980	-3.87;-3.87;-3.87	2.35	1.45	0.22620	.	0.855173	0.09539	U	0.788562	D	0.92835	0.7721	M	0.65498	2.005	0.09310	N	1	B	0.27380	0.177	B	0.23852	0.049	D	0.84954	0.0873	10	0.62326	D	0.03	.	4.8233	0.13403	0.0:0.6517:0.0:0.3483	.	581	P54793	ARSF_HUMAN	F	581	ENSP00000370519:S581F;ENSP00000445594:S581F;ENSP00000352319:S581F	ENSP00000352319:S581F	S	+	2	0	ARSF	3040566	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.336000	0.07863	0.060000	0.16281	0.411000	0.27672	TCT	ARSF	-	NULL		0.488	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	C			3030566	+1	no_errors	ENST00000359361	ensembl	human	known	70_37	missense	SNP	0.000	T
ASB17	127247	genome.wustl.edu	37	1	76397629	76397629	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:76397629C>T	ENST00000284142.6	-	1	487	c.348G>A	c.(346-348)aaG>aaA	p.K116K		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	116					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CTTTTGTCTTCTTGAGAAGCA	0.333																																																	0													62.0	61.0	61.0					1																	76397629		2203	4299	6502	SO:0001819	synonymous_variant	127247			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.348G>A	1.37:g.76397629C>T			B1APB8|Q8N0X5	Silent	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.K116	ENST00000284142.6	37	c.348	CCDS671.1	1																																																																																			ASB17	-	superfamily_Ankyrin_rpt-contain_dom		0.333	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	C	NM_080868		76397629	-1	no_errors	ENST00000284142	ensembl	human	known	70_37	silent	SNP	1.000	T
ASPN	54829	genome.wustl.edu	37	9	95236914	95236914	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:95236914G>A	ENST00000375544.3	-	2	509	c.266C>T	c.(265-267)tCa>tTa	p.S89L	ASPN_ENST00000450139.2_Missense_Mutation_p.S61L|ASPN_ENST00000375543.1_Missense_Mutation_p.S89L|ASPN_ENST00000395538.3_Missense_Mutation_p.S89L|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	89	Cys-rich.|LRRNT.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S89*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACCTAAATCTGAGCAATGTAC	0.323																																																	1	Substitution - Nonsense(1)	breast(1)											98.0	90.0	93.0					9																	95236914		2203	4300	6503	SO:0001583	missense	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.266C>T	9.37:g.95236914G>A	ENSP00000364694:p.Ser89Leu		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.S89L	ENST00000375544.3	37	c.266		9	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560534	0.86335	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	5.3	4.39	0.52855	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	M	0.90650	3.135	0.40634	D	0.981885	D;D	0.89917	0.999;1.0	D;D	0.91635	0.985;0.999	D	0.99905	1.1175	10	0.72032	D	0.01	.	15.65	0.77084	0.0:0.0:0.8616:0.1384	.	89;89	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	L	89;89;89;61	ENSP00000364694:S89L;ENSP00000364693:S89L;ENSP00000378909:S89L;ENSP00000389902:S61L	ENSP00000364693:S89L	S	-	2	0	ASPN	94276735	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.339000	0.90041	1.377000	0.46286	0.650000	0.86243	TCA	ASPN	-	pfam_LRR-contain_N,smart_LRR-contain_N,pirsf_SLRP_I_decor/aspor/byglycan		0.323	ASPN-001	KNOWN	basic|appris_principal	protein_coding	ASPN	HGNC	protein_coding	OTTHUMT00000053094.1	G	NM_017680		95236914	-1	no_errors	ENST00000375544	ensembl	human	known	70_37	missense	SNP	1.000	A
ASTN1	460	genome.wustl.edu	37	1	176838073	176838073	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:176838073G>A	ENST00000367654.3	-	22	3789	c.3578C>T	c.(3577-3579)tCc>tTc	p.S1193F	ASTN1_ENST00000424564.2_Missense_Mutation_p.S1185F|ASTN1_ENST00000361833.2_Missense_Mutation_p.S1185F|ASTN1_ENST00000367657.3_Missense_Mutation_p.S1185F	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1193					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TAAGGTGGGGGAACCCAGATC	0.507																																																	0													168.0	155.0	159.0					1																	176838073		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3578C>T	1.37:g.176838073G>A	ENSP00000356626:p.Ser1193Phe		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.S1193F	ENST00000367654.3	37	c.3578		1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907683	0.72868	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16196	2.36;2.78;2.78;2.36	5.7	5.7	0.88788	.	0.098358	0.64402	D	0.000001	T	0.23532	0.0569	L	0.40543	1.245	0.80722	D	1	P;P	0.40875	0.731;0.514	B;B	0.44224	0.444;0.351	T	0.00626	-1.1638	10	0.87932	D	0	-17.0839	19.4429	0.94831	0.0:0.0:1.0:0.0	.	1185;1185	O14525-2;B1AJS1	.;.	F	1185;1185;1193;1185;1185	ENSP00000356629:S1185F;ENSP00000354536:S1185F;ENSP00000356626:S1193F;ENSP00000395041:S1185F	ENSP00000354536:S1185F	S	-	2	0	ASTN1	175104696	1.000000	0.71417	0.858000	0.33744	0.092000	0.18411	9.689000	0.98673	2.698000	0.92095	0.655000	0.94253	TCC	ASTN1	-	NULL		0.507	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		G	NM_004319		176838073	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	0.989	A
ASXL1	171023	genome.wustl.edu	37	20	31023127	31023127	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:31023127C>G	ENST00000375687.4	+	13	3036	c.2612C>G	c.(2611-2613)tCa>tGa	p.S871*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.S866*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	871					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTGGTGGCTCATGCCCTCCT	0.463			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													168.0	171.0	170.0					20																	31023127		2203	4300	6503	SO:0001587	stop_gained	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2612C>G	20.37:g.31023127C>G	ENSP00000364839:p.Ser871*		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	NULL	p.S871*	ENST00000375687.4	37	c.2612	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.037855	0.98021	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.98	4.0	0.46444	.	1.098660	0.06791	N	0.786956	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-1.1473	8.1498	0.31134	0.0:0.8836:0.0:0.1164	.	.	.	.	X	871;871;871;792;866	.	ENSP00000305119:S866X	S	+	2	0	ASXL1	30486788	0.001000	0.12720	0.096000	0.21009	0.145000	0.21501	1.004000	0.29822	1.384000	0.46424	0.650000	0.86243	TCA	ASXL1	-	NULL		0.463	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	C	NM_015338		31023127	+1	no_errors	ENST00000375687	ensembl	human	known	70_37	nonsense	SNP	0.277	G
ASXL2	55252	genome.wustl.edu	37	2	26022384	26022384	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:26022384C>T	ENST00000435504.4	-	5	566	c.273G>A	c.(271-273)gtG>gtA	p.V91V	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Silent_p.V63V|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	91					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGCTCTTTCACCCCATCCG	0.428																																																	0													134.0	128.0	130.0					2																	26022384		2003	4173	6176	SO:0001819	synonymous_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.273G>A	2.37:g.26022384C>T			Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	superfamily_Znf_FYVE_PHD	p.V91	ENST00000435504.4	37	c.273		2																																																																																			ASXL2	-	NULL		0.428	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	C	NM_018263		26022384	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	silent	SNP	0.999	T
ATAD3B	83858	genome.wustl.edu	37	1	1418033	1418033	+	Intron	SNP	G	G	C	rs376802044		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:1418033G>C	ENST00000308647.7	+	7	866				ATAD3B_ENST00000378741.3_Missense_Mutation_p.E95D|ATAD3B_ENST00000378736.3_3'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B							mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGGTGGCTGAGAGGCAGCATG	0.587																																																	0								G		1,4405		0,1,2202	42.0	57.0	52.0			0.0	0.0	1		52	0,8598		0,0,4299	no	intron	ATAD3B	NM_031921.4		0,1,6501	CC,CG,GG		0.0,0.0227,0.0077			1418033	1,13003	2203	4299	6502	SO:0001627	intron_variant	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.750+39G>C	1.37:g.1418033G>C			A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	pfam_DUF3523	p.E95D	ENST00000308647.7	37	c.285	CCDS30.1	1	.	.	.	.	.	.	.	.	.	.	.	4.233	0.042187	0.08196	2.27E-4	0.0	ENSG00000160072	ENST00000378741;ENST00000378736	.	.	.	1.06	0.00683	0.14068	.	.	.	.	.	T	0.21674	0.0522	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24048	-1.0171	4	.	.	.	.	2.952	0.05865	0.3856:0.0:0.6144:0.0	.	.	.	.	D	95	.	.	E	+	3	2	ATAD3B	1407896	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.437000	0.06914	0.013000	0.14918	0.194000	0.17425	GAG	ATAD3B	-	pfam_DUF3523		0.587	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	G	NM_031921		1418033	+1	no_errors	ENST00000378741	ensembl	human	known	70_37	missense	SNP	0.000	C
ATF7IP2	80063	genome.wustl.edu	37	16	10575839	10575839	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:10575839G>A	ENST00000396560.2	+	12	2009	c.1782G>A	c.(1780-1782)ctG>ctA	p.L594L	ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Silent_p.L594L|ATF7IP2_ENST00000543967.1_Silent_p.L138L|ATF7IP2_ENST00000396559.1_3'UTR	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	594	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GCATTGCCCTGACTTGGAATA	0.443																																																	0													107.0	105.0	106.0					16																	10575839		2197	4300	6497	SO:0001819	synonymous_variant	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1782G>A	16.37:g.10575839G>A			B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	superfamily_Fibronectin_type3	p.L594	ENST00000396560.2	37	c.1782	CCDS10540.1	16																																																																																			ATF7IP2	-	superfamily_Fibronectin_type3		0.443	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1	G	NM_024997		10575839	+1	no_errors	ENST00000356427	ensembl	human	known	70_37	silent	SNP	0.999	A
ATG9B	285973	genome.wustl.edu	37	7	150710472	150710472	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:150710472G>C	ENST00000494791.1	-	0	3400				NOS3_ENST00000297494.3_Intron|ATG9B_ENST00000605938.1_3'UTR|NOS3_ENST00000461406.1_Intron|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR|NOS3_ENST00000477227.1_Intron			Q674R7	ATG9B_HUMAN	autophagy related 9B						autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAAGGTGTGAGACCCTGAG	0.657											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													42.0	39.0	40.0					7																	150710472		2203	4300	6503	SO:0001623	5_prime_UTR_variant	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000494791.1:c.-1171C>G	7.37:g.150710472G>C		1734	A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000494791.1	37	NULL		7																																																																																			ATG9B	-	-		0.657	ATG9B-001	KNOWN	non_canonical_U12|basic	processed_transcript	ATG9B	HGNC	protein_coding	OTTHUMT00000351543.2	G	NM_173681		150710472	-1	no_errors	ENST00000377974	ensembl	human	known	70_37	rna	SNP	0.023	C
ATL1	51062	genome.wustl.edu	37	14	51094938	51094938	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:51094938G>A	ENST00000358385.6	+	12	1550	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	ATL1_ENST00000354525.4_Missense_Mutation_p.D437N|ATL1_ENST00000357032.3_Missense_Mutation_p.D437N|ATL1_ENST00000441560.2_Missense_Mutation_p.D437N	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	437					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CAAGCACAATGATAGCAAAAA	0.428																																																	0													213.0	185.0	194.0					14																	51094938		2203	4300	6503	SO:0001583	missense	51062			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.1309G>A	14.37:g.51094938G>A	ENSP00000351155:p.Asp437Asn		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.D437N	ENST00000358385.6	37	c.1309	CCDS9700.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.341908	0.95783	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.76	5.76	0.90799	Guanylate-binding protein, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88676	0.6501	L	0.34521	1.04	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.13407	0.004;0.009	T	0.83054	-0.0151	10	0.38643	T	0.18	-20.3231	18.9619	0.92680	0.0:0.0:1.0:0.0	.	437;437	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	N	437	ENSP00000413675:D437N;ENSP00000351155:D437N;ENSP00000349534:D437N;ENSP00000346522:D437N	ENSP00000346522:D437N	D	+	1	0	ATL1	50164688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.732000	0.93576	0.655000	0.94253	GAT	ATL1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.428	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	HGNC	protein_coding	OTTHUMT00000276884.2	G			51094938	+1	no_errors	ENST00000357032	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP10B	23120	genome.wustl.edu	37	5	160114974	160114974	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:160114974C>G	ENST00000327245.5	-	5	954	c.108G>C	c.(106-108)ggG>ggC	p.G36G	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	36					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTCTGTCTCCCTTTCTCTG	0.542																																																	0													152.0	153.0	152.0					5																	160114974		2046	4208	6254	SO:0001819	synonymous_variant	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.108G>C	5.37:g.160114974C>G			Q9H725	Silent	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.G36	ENST00000327245.5	37	c.108	CCDS43394.1	5																																																																																			ATP10B	-	NULL		0.542	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160114974	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	silent	SNP	0.000	G
ATP13A2	23400	genome.wustl.edu	37	1	17326795	17326795	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:17326795G>C	ENST00000326735.8	-	10	886	c.853C>G	c.(853-855)Cta>Gta	p.L285V	ATP13A2_ENST00000502860.1_5'Flank|ATP13A2_ENST00000341676.5_Missense_Mutation_p.L280V|ATP13A2_ENST00000452699.1_Missense_Mutation_p.L280V|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	285					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ATGTCCCTTAGAGTCTGGCTT	0.687																																																	0													25.0	23.0	24.0					1																	17326795		2196	4291	6487	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.853C>G	1.37:g.17326795G>C	ENSP00000327214:p.Leu285Val		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	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_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.L285V	ENST00000326735.8	37	c.853	CCDS175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.882788|3.882788	0.72410|0.72410	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174;ENST00000511957|ENST00000510069;ENST00000508222	D;D;D;T;D|.	0.91011|.	-2.77;-2.77;-2.77;-0.47;-2.59|.	4.82|4.82	2.9|2.9	0.33743|0.33743	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75184|0.75184	0.3815|0.3815	M|M	0.89534|0.89534	3.04|3.04	0.48696|0.48696	D|D	0.99969|0.99969	P;P;P|.	0.51449|.	0.784;0.891;0.945|.	P;P;P|.	0.59357|.	0.573;0.665;0.856|.	T|T	0.73920|0.73920	-0.3830|-0.3830	10|5	0.87932|.	D|.	0|.	-13.3696|-13.3696	6.6142|6.6142	0.22769|0.22769	0.1659:0.146:0.6881:0.0|0.1659:0.146:0.6881:0.0	.|.	280;280;285|.	Q5JXY1;Q6S9Z9;Q9NQ11|.	.;.;AT132_HUMAN|.	V|C	285;280;280;5;180|259;182	ENSP00000327214:L285V;ENSP00000341115:L280V;ENSP00000413307:L280V;ENSP00000424393:L5V;ENSP00000427241:L180V|.	ENSP00000327214:L285V|.	L|S	-|-	1|2	2|0	ATP13A2|ATP13A2	17199382|17199382	1.000000|1.000000	0.71417|0.71417	0.677000|0.677000	0.29947|0.29947	0.985000|0.985000	0.73830|0.73830	5.335000|5.335000	0.65929|0.65929	0.528000|0.528000	0.28580|0.28580	0.585000|0.585000	0.79938|0.79938	CTA|TCT	ATP13A2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr		0.687	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	G	NM_022089		17326795	-1	no_errors	ENST00000326735	ensembl	human	known	70_37	missense	SNP	0.949	C
ATP1B4	23439	genome.wustl.edu	37	X	119513442	119513442	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:119513442G>A	ENST00000218008.3	+	8	1084	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	ATP1B4_ENST00000539306.1_Missense_Mutation_p.D300N|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D339N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	343					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGTCATCAATGATCGTTTTGT	0.453																																																	0													142.0	112.0	123.0					X																	119513442		2203	4300	6503	SO:0001583	missense	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.1027G>A	X.37:g.119513442G>A	ENSP00000218008:p.Asp343Asn		Q17RR0|Q9UN41	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.D343N	ENST00000218008.3	37	c.1027	CCDS48158.1	X	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749346	0.89753	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.38722	1.12;1.12;1.12	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.77236	-0.2662	10	0.52906	T	0.07	-12.3043	16.9636	0.86279	0.0:0.0:1.0:0.0	.	300;308;343;339	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	N	343;339;300	ENSP00000218008:D343N;ENSP00000355346:D339N;ENSP00000443334:D300N	ENSP00000218008:D343N	D	+	1	0	ATP1B4	119397470	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.876000	0.92379	2.213000	0.71641	0.600000	0.82982	GAT	ATP1B4	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu		0.453	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1B4	HGNC	protein_coding	OTTHUMT00000058095.1	G	NM_001142447		119513442	+1	no_errors	ENST00000218008	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP6V0E2	155066	genome.wustl.edu	37	7	149571220	149571220	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:149571220C>T	ENST00000425642.2	+	1	89	c.66C>T	c.(64-66)atC>atT	p.I22I	ATP6V0E2_ENST00000456496.2_Silent_p.I71I|ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2_ENST00000421974.2_Silent_p.I71I|ATP6V0E2_ENST00000479613.1_Silent_p.I22I|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000606024.1_Silent_p.I22I|ATP6V0E2_ENST00000464662.1_Silent_p.I22I			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	22					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			TCGTCGGCATCGCCGGGCCCT	0.716																																																	0													5.0	8.0	7.0					7																	149571220		1543	3134	4677	SO:0001819	synonymous_variant	155066			AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"""ATPases / V-type"""	21723	protein-coding gene	gene with protein product		611019	"""chromosome 7 open reading frame 32"", ""ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"""	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.66C>T	7.37:g.149571220C>T			A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Silent	SNP	pfam_ATPase_V0-cplx_esu	p.I71	ENST00000425642.2	37	c.213		7																																																																																			ATP6V0E2	-	pfam_ATPase_V0-cplx_esu		0.716	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	ATP6V0E2	HGNC	protein_coding	OTTHUMT00000470874.1	C	NM_145230		149571220	+1	no_errors	ENST00000421974	ensembl	human	known	70_37	silent	SNP	1.000	T
ATPIF1	93974	genome.wustl.edu	37	1	28562908	28562908	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:28562908G>A	ENST00000335514.5	+	2	175	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	ATPIF1_ENST00000497986.1_Missense_Mutation_p.E42K|ATPIF1_ENST00000465645.1_Missense_Mutation_p.E42K|ATPIF1_ENST00000468425.2_Missense_Mutation_p.E42K	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	42	N-terminal inhibitory region. {ECO:0000250}.				angiogenesis (GO:0001525)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of nucleotide metabolic process (GO:0045980)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|reactive oxygen species metabolic process (GO:0072593)	cell surface (GO:0009986)|mitochondrion (GO:0005739)	angiostatin binding (GO:0043532)|ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calmodulin binding (GO:0005516)|enzyme inhibitor activity (GO:0004857)|protein homodimerization activity (GO:0042803)			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCATCCGGGAAGCCGGTGG	0.627																																																	0													69.0	79.0	76.0					1																	28562908		2203	4300	6503	SO:0001583	missense	93974			AL050386	CCDS319.1, CCDS320.1, CCDS44096.1	1p35.3	2011-07-04			ENSG00000130770	ENSG00000130770		"""Mitochondrial respiratory chain complex / Complex V"""	871	protein-coding gene	gene with protein product	"""ATPase inhibitor protein"", ""ATP synthase inhibitor protein"""	614981				10664857, 19559621	Standard	NM_016311		Approved	ATPI, IP, ATPIP, MGC1167, MGC8898	uc001bpq.3	Q9UII2	OTTHUMG00000003533	ENST00000335514.5:c.124G>A	1.37:g.28562908G>A	ENSP00000335203:p.Glu42Lys		Q5JXL8|Q6IAQ7|Q9BSL9	Missense_Mutation	SNP	pfam_ATPase_inhibitor_IATP_mt	p.E42K	ENST00000335514.5	37	c.124	CCDS319.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.406620	0.97542	.	.	ENSG00000130770	ENST00000497986;ENST00000417632;ENST00000335514;ENST00000468425;ENST00000465645	D	0.92647	-3.08	5.78	5.78	0.91487	.	0.333732	0.34156	N	0.004211	D	0.94235	0.8149	M	0.70842	2.15	0.58432	D	0.999999	P;D	0.55385	0.626;0.971	B;P	0.53401	0.432;0.725	D	0.94101	0.7362	10	0.59425	D	0.04	-14.8801	17.8559	0.88762	0.0:0.0:1.0:0.0	.	42;42	Q9UII2;Q9UII2-2	ATIF1_HUMAN;.	K	42	ENSP00000335203:E42K	ENSP00000335203:E42K	E	+	1	0	ATPIF1	28435495	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.362000	0.66098	2.894000	0.99253	0.655000	0.94253	GAA	ATPIF1	-	pfam_ATPase_inhibitor_IATP_mt		0.627	ATPIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPIF1	HGNC	protein_coding	OTTHUMT00000009841.1	G	NM_016311		28562908	+1	no_errors	ENST00000335514	ensembl	human	known	70_37	missense	SNP	1.000	A
ATPIF1	93974	genome.wustl.edu	37	1	28564291	28564291	+	Intron	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:28564291G>C	ENST00000335514.5	+	3	230				ATPIF1_ENST00000497986.1_Missense_Mutation_p.E67Q|RP5-1092A3.4_ENST00000604716.1_RNA|ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000468425.2_Intron	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1						angiogenesis (GO:0001525)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of nucleotide metabolic process (GO:0045980)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|reactive oxygen species metabolic process (GO:0072593)	cell surface (GO:0009986)|mitochondrion (GO:0005739)	angiostatin binding (GO:0043532)|ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calmodulin binding (GO:0005516)|enzyme inhibitor activity (GO:0004857)|protein homodimerization activity (GO:0042803)			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GTTATGCTTTGAGATCTCTTT	0.438																																																	0													126.0	119.0	122.0					1																	28564291		2203	4300	6503	SO:0001627	intron_variant	93974			AL050386	CCDS319.1, CCDS320.1, CCDS44096.1	1p35.3	2011-07-04			ENSG00000130770	ENSG00000130770		"""Mitochondrial respiratory chain complex / Complex V"""	871	protein-coding gene	gene with protein product	"""ATPase inhibitor protein"", ""ATP synthase inhibitor protein"""	614981				10664857, 19559621	Standard	NM_016311		Approved	ATPI, IP, ATPIP, MGC1167, MGC8898	uc001bpq.3	Q9UII2	OTTHUMG00000003533	ENST00000335514.5:c.180-57G>C	1.37:g.28564291G>C			Q5JXL8|Q6IAQ7|Q9BSL9	Missense_Mutation	SNP	pfam_ATPase_inhibitor_IATP_mt	p.E67Q	ENST00000335514.5	37	c.199	CCDS319.1	1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095574	0.36952	.	.	ENSG00000130770	ENST00000497986	.	.	.	4.21	2.64	0.31445	.	.	.	.	.	T	0.36771	0.0979	.	.	.	0.20764	N	0.999851	D	0.57257	0.979	P	0.48524	0.58	T	0.18840	-1.0324	7	0.87932	D	0	.	6.308	0.21149	0.2086:0.0:0.7914:0.0	.	67	Q9UII2-2	.	Q	67	.	ENSP00000435579:E67Q	E	+	1	0	ATPIF1	28436878	0.096000	0.21769	0.205000	0.23548	0.356000	0.29392	0.072000	0.14617	0.643000	0.30638	0.561000	0.74099	GAG	ATPIF1	-	NULL		0.438	ATPIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPIF1	HGNC	protein_coding	OTTHUMT00000009841.1	G	NM_016311		28564291	+1	no_errors	ENST00000497986	ensembl	human	known	70_37	missense	SNP	0.064	C
ATXN2L	11273	genome.wustl.edu	37	16	28843855	28843855	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:28843855G>C	ENST00000336783.4	+	12	1722	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	ATXN2L_ENST00000564304.1_Missense_Mutation_p.E525Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.E519Q|ATXN2L_ENST00000395547.2_Missense_Mutation_p.E519Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.E519Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.E519Q|ATXN2L_ENST00000325215.6_Missense_Mutation_p.E519Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	519					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAGAACTCTGGAGCCCCAGGA	0.463																																																	0													91.0	110.0	104.0					16																	28843855		2197	4300	6497	SO:0001583	missense	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1555G>C	16.37:g.28843855G>C	ENSP00000338718:p.Glu519Gln		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.E519Q	ENST00000336783.4	37	c.1555	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	23.6	4.432263	0.83776	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.50813	0.77;0.73;0.76;0.77;0.76	5.46	5.46	0.80206	.	0.166220	0.42420	D	0.000708	T	0.57242	0.2040	L	0.40543	1.245	0.32728	N	0.509356	D;D;D;D;D;D;D	0.61080	0.989;0.981;0.981;0.989;0.989;0.981;0.978	D;D;D;D;D;D;P	0.70487	0.969;0.932;0.932;0.969;0.969;0.932;0.719	T	0.59445	-0.7453	10	0.21540	T	0.41	-9.1712	14.7969	0.69884	0.0:0.0:1.0:0.0	.	519;519;519;519;519;519;519	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	Q	519	ENSP00000341459:E519Q;ENSP00000378917:E519Q;ENSP00000338718:E519Q;ENSP00000372133:E519Q;ENSP00000315650:E519Q	ENSP00000315650:E519Q	E	+	1	0	ATXN2L	28751356	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.850000	0.62889	2.567000	0.86603	0.491000	0.48974	GAG	ATXN2L	-	NULL		0.463	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	G	NM_007245		28843855	+1	no_errors	ENST00000395547	ensembl	human	known	70_37	missense	SNP	1.000	C
ATXN2L	11273	genome.wustl.edu	37	16	28844464	28844464	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:28844464G>C	ENST00000336783.4	+	14	1911	c.1744G>C	c.(1744-1746)Gag>Cag	p.E582Q	ATXN2L_ENST00000564304.1_Missense_Mutation_p.E588Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.E582Q|ATXN2L_ENST00000395547.2_Missense_Mutation_p.E582Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.E582Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.E582Q|ATXN2L_ENST00000325215.6_Missense_Mutation_p.E582Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	582					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AAAGGAGAAAGAGGTTGATGG	0.542																																																	0													115.0	119.0	117.0					16																	28844464		2197	4300	6497	SO:0001583	missense	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1744G>C	16.37:g.28844464G>C	ENSP00000338718:p.Glu582Gln		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.E582Q	ENST00000336783.4	37	c.1744	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	7.005	0.555652	0.13436	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.47528	0.85;0.84;0.85;0.85;0.85	5.8	3.86	0.44501	.	0.328845	0.29126	N	0.013077	T	0.31358	0.0794	L	0.33485	1.01	0.27489	N	0.952348	B;B;B;B;B;B;B;B	0.15141	0.007;0.012;0.004;0.004;0.007;0.007;0.004;0.007	B;B;B;B;B;B;B;B	0.14023	0.01;0.01;0.004;0.004;0.01;0.01;0.004;0.01	T	0.19516	-1.0303	10	0.15066	T	0.55	-16.4187	7.3502	0.26686	0.1498:0.1382:0.712:0.0	.	582;582;582;582;582;582;582;582	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	Q	582	ENSP00000341459:E582Q;ENSP00000378917:E582Q;ENSP00000338718:E582Q;ENSP00000372133:E582Q;ENSP00000315650:E582Q	ENSP00000315650:E582Q	E	+	1	0	ATXN2L	28751965	0.998000	0.40836	0.792000	0.32020	0.014000	0.08584	2.772000	0.47678	0.821000	0.34540	-0.140000	0.14226	GAG	ATXN2L	-	NULL		0.542	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	G	NM_007245		28844464	+1	no_errors	ENST00000395547	ensembl	human	known	70_37	missense	SNP	0.965	C
ATXN2L	11273	genome.wustl.edu	37	16	28844674	28844674	+	Splice_Site	SNP	G	G	A	rs373472808		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:28844674G>A	ENST00000336783.4	+	14	2121	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	ATXN2L_ENST00000564304.1_Splice_Site_p.E658K|ATXN2L_ENST00000340394.8_Splice_Site_p.E652K|ATXN2L_ENST00000395547.2_Splice_Site_p.E652K|ATXN2L_ENST00000382686.4_Splice_Site_p.E652K|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Splice_Site_p.E652K|ATXN2L_ENST00000325215.6_Splice_Site_p.E652K|ATXN2L_ENST00000565845.1_3'UTR	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	652					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.E652Q(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCTGTTGCTGAGTGAGTGGA	0.577																																																	2	Substitution - Missense(2)	lung(2)											45.0	45.0	45.0					16																	28844674		2197	4300	6497	SO:0001630	splice_region_variant	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1955+1G>A	16.37:g.28844674G>A			A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.E652K	ENST00000336783.4	37	c.1954	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	21.5	4.163438	0.78226	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.54071	0.6;0.62;0.63;0.6;0.59	5.84	5.84	0.93424	.	0.071450	0.56097	D	0.000028	T	0.39410	0.1077	N	0.24115	0.695	0.51233	D	0.999914	B;B;B;B;B;B;B	0.34290	0.447;0.319;0.319;0.447;0.447;0.319;0.447	B;B;B;B;B;B;B	0.30572	0.075;0.034;0.055;0.075;0.075;0.034;0.117	T	0.18524	-1.0334	10	0.16896	T	0.51	-9.8797	18.9149	0.92501	0.0:0.0:1.0:0.0	.	652;652;652;652;652;652;652	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	K	652	ENSP00000341459:E652K;ENSP00000378917:E652K;ENSP00000338718:E652K;ENSP00000372133:E652K;ENSP00000315650:E652K	ENSP00000315650:E652K	E	+	1	0	ATXN2L	28752175	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.143000	0.77348	2.769000	0.95229	0.563000	0.77884	GAA	ATXN2L	-	NULL		0.577	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	G	NM_007245	Missense_Mutation	28844674	+1	no_errors	ENST00000395547	ensembl	human	known	70_37	missense	SNP	1.000	A
ATXN3L	92552	genome.wustl.edu	37	X	13337060	13337060	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:13337060C>G	ENST00000380622.2	-	1	1458	c.994G>C	c.(994-996)Ggc>Cgc	p.G332R	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	332			G -> D (in dbSNP:rs4830842). {ECO:0000269|PubMed:11450850, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGTACTGTGCCTTCACTGATG	0.403																																																	0													196.0	163.0	173.0					X																	13337060		1568	3582	5150	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.994G>C	X.37:g.13337060C>G	ENSP00000369996:p.Gly332Arg		B2RNY8	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.G332R	ENST00000380622.2	37	c.994	CCDS48080.1	X	.	.	.	.	.	.	.	.	.	.	C	5.782	0.328631	0.10956	.	.	ENSG00000123594	ENST00000380622	T	0.16897	2.31	0.793	0.793	0.18632	.	0.067617	0.64402	D	0.000011	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28902	-1.0029	9	0.87932	D	0	.	.	.	.	.	332	Q9H3M9	ATX3L_HUMAN	R	332	ENSP00000369996:G332R	ENSP00000369996:G332R	G	-	1	0	ATXN3L	13246981	0.020000	0.18652	0.010000	0.14722	0.004000	0.04260	-0.155000	0.10115	0.659000	0.30945	0.415000	0.27848	GGC	ATXN3L	-	NULL		0.403	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	C	NM_001135995		13337060	-1	no_errors	ENST00000380622	ensembl	human	known	70_37	missense	SNP	0.010	G
BCKDHA	593	genome.wustl.edu	37	19	41932015	41932015	+	IGR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:41932015G>C	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Silent_p.L223L|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCAGGTCTTTGAGCGTCTGGT	0.627																																																	0													56.0	58.0	57.0					19																	41932015		2203	4300	6503	SO:0001628	intergenic_variant	374907			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932015G>C			B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	pfam_Glyco_trans_31	p.L223	ENST00000269980.2	37	c.669	CCDS12581.1	19																																																																																			B3GNT8	-	pfam_Glyco_trans_31		0.627	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT8	HGNC	protein_coding	OTTHUMT00000398313.3	G	NM_000709		41932015	-1	no_errors	ENST00000321702	ensembl	human	known	70_37	silent	SNP	0.996	C
BAG6	7917	genome.wustl.edu	37	6	31610002	31610002	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:31610002G>A	ENST00000375964.6	-	15	2445	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F	BAG6_ENST00000211379.5_Missense_Mutation_p.S705F|BAG6_ENST00000375976.4_Missense_Mutation_p.S705F|BAG6_ENST00000362049.6_Missense_Mutation_p.S705F|BAG6_ENST00000404765.2_Missense_Mutation_p.S741F|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000439687.2_Missense_Mutation_p.S579F	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	711					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GCCCAGCAGGGAGCTGAGCAC	0.607																																																	0													35.0	35.0	35.0					6																	31610002		1509	2709	4218	SO:0001583	missense	7917			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2132C>T	6.37:g.31610002G>A	ENSP00000365131:p.Ser711Phe		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	pfam_DUF3538,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.S741F	ENST00000375964.6	37	c.2222	CCDS47403.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652354	0.88056	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771	T;T;T;T;T;T;T	0.55052	1.47;1.47;1.47;1.47;1.47;1.47;0.54	5.75	5.75	0.90469	.	0.052788	0.85682	D	0.000000	T	0.59169	0.2174	L	0.36672	1.1	0.52501	D	0.999955	D;D;D;D	0.71674	0.995;0.997;0.996;0.998	P;D;D;D	0.79108	0.795;0.931;0.982;0.992	T	0.61252	-0.7100	10	0.66056	D	0.02	.	18.7781	0.91920	0.0:0.0:1.0:0.0	.	579;705;711;705	E7EMZ4;F8VXY4;P46379;P46379-2	.;.;BAG6_HUMAN;.	F	705;711;705;741;579;705;741	ENSP00000365143:S705F;ENSP00000365131:S711F;ENSP00000211379:S705F;ENSP00000384494:S741F;ENSP00000402856:S579F;ENSP00000354875:S705F;ENSP00000397978:S741F	ENSP00000211379:S705F	S	-	2	0	BAG6	31717981	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.940000	0.87693	2.731000	0.93534	0.650000	0.86243	TCC	BAG6	-	NULL		0.607	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	HGNC	protein_coding		G	NM_080703		31610002	-1	no_errors	ENST00000404765	ensembl	human	known	70_37	missense	SNP	1.000	A
BACH2	60468	genome.wustl.edu	37	6	90718406	90718406	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:90718406G>A	ENST00000257749.4	-	6	865	c.158C>T	c.(157-159)gCt>gTt	p.A53V	BACH2_ENST00000343122.3_Missense_Mutation_p.A53V|BACH2_ENST00000537989.1_Missense_Mutation_p.A53V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	53	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGCCAGCACAGCCCGGTGGGC	0.522																																																	0													104.0	104.0	104.0					6																	90718406		2203	4300	6503	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.158C>T	6.37:g.90718406G>A	ENSP00000257749:p.Ala53Val		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.A53V	ENST00000257749.4	37	c.158	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.214375	0.95104	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.33	5.33	0.75918	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.107337	0.64402	D	0.000007	T	0.65037	0.2653	L	0.33339	1.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.65010	0.931	T	0.59815	-0.7383	10	0.21014	T	0.42	-0.2628	19.0228	0.92921	0.0:0.0:1.0:0.0	.	53	Q9BYV9	BACH2_HUMAN	V	53	ENSP00000257749:A53V;ENSP00000437473:A53V;ENSP00000345642:A53V;ENSP00000384145:A53V;ENSP00000397668:A53V	ENSP00000257749:A53V	A	-	2	0	BACH2	90775127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.381000	0.97205	2.507000	0.84556	0.591000	0.81541	GCT	BACH2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.522	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	G	NM_021813		90718406	-1	no_errors	ENST00000257749	ensembl	human	known	70_37	missense	SNP	1.000	A
BAHD1	22893	genome.wustl.edu	37	15	40751231	40751231	+	Missense_Mutation	SNP	G	G	A	rs199651782		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:40751231G>A	ENST00000416165.1	+	2	639	c.568G>A	c.(568-570)Gat>Aat	p.D190N	BAHD1_ENST00000561234.1_Missense_Mutation_p.D190N|BAHD1_ENST00000560846.1_Missense_Mutation_p.D190N	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	190					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCAGCACCCGATGAAGGTCC	0.642																																																	0								G	ASN/ASP	0,4398		0,0,2199	26.0	32.0	30.0		568	5.0	0.7	15		30	4,8596		0,4,4296	yes	missense	BAHD1	NM_014952.3	23	0,4,6495	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	190/781	40751231	4,12994	2199	4300	6499	SO:0001583	missense	22893			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.568G>A	15.37:g.40751231G>A	ENSP00000396976:p.Asp190Asn		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.D190N	ENST00000416165.1	37	c.568	CCDS10058.1	15	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511413	0.85389	0.0	4.65E-4	ENSG00000140320	ENST00000416165	T	0.19105	2.17	4.99	4.99	0.66335	.	0.199330	0.42294	D	0.000721	T	0.14570	0.0352	N	0.14661	0.345	0.44579	D	0.997547	P;P;P	0.43750	0.816;0.72;0.816	B;B;B	0.37451	0.25;0.127;0.25	T	0.05257	-1.0896	10	0.48119	T	0.1	-6.819	18.8304	0.92137	0.0:0.0:1.0:0.0	.	190;190;190	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	N	190	ENSP00000396976:D190N	ENSP00000396976:D190N	D	+	1	0	BAHD1	38538523	1.000000	0.71417	0.734000	0.30879	0.853000	0.48598	6.164000	0.71885	2.746000	0.94184	0.650000	0.86243	GAT	BAHD1	-	NULL		0.642	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	HGNC	protein_coding	OTTHUMT00000252248.1	G	NM_014952		40751231	+1	no_errors	ENST00000416165	ensembl	human	known	70_37	missense	SNP	0.982	A
BAZ1B	9031	genome.wustl.edu	37	7	72891336	72891336	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:72891336C>G	ENST00000339594.4	-	7	2793	c.2455G>C	c.(2455-2457)Gat>Cat	p.D819H	BAZ1B_ENST00000404251.1_Missense_Mutation_p.D819H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	819					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTTCCTATCAGTTTTGCCT	0.383																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													155.0	145.0	148.0					7																	72891336		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2455G>C	7.37:g.72891336C>G	ENSP00000342434:p.Asp819His		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.D819H	ENST00000339594.4	37	c.2455	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	C	8.685	0.906133	0.17760	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59638	0.25;0.25	5.7	5.7	0.88788	.	0.251586	0.45606	D	0.000354	T	0.42810	0.1219	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.35510	0.204	T	0.46176	-0.9210	10	0.48119	T	0.1	-21.1118	18.3953	0.90496	0.0:1.0:0.0:0.0	.	819	Q9UIG0	BAZ1B_HUMAN	H	819	ENSP00000342434:D819H;ENSP00000385442:D819H	ENSP00000342434:D819H	D	-	1	0	BAZ1B	72529272	0.998000	0.40836	0.213000	0.23690	0.785000	0.44390	5.061000	0.64319	2.702000	0.92279	0.491000	0.48974	GAT	BAZ1B	-	superfamily_ARM-type_fold		0.383	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	C	NM_032408		72891336	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	missense	SNP	0.075	G
BAZ1B	9031	genome.wustl.edu	37	7	72892765	72892765	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:72892765C>G	ENST00000339594.4	-	7	1364	c.1026G>C	c.(1024-1026)ttG>ttC	p.L342F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.L342F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	342	Lys-rich.|Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATGACTTCTTCAAGTGTACGT	0.423																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													108.0	104.0	106.0					7																	72892765		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1026G>C	7.37:g.72892765C>G	ENSP00000342434:p.Leu342Phe		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L342F	ENST00000339594.4	37	c.1026	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346151	0.41599	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.61510	0.1;0.1	5.93	3.83	0.44106	.	0.099244	0.43416	D	0.000569	T	0.53110	0.1776	L	0.27053	0.805	0.38842	D	0.956094	D	0.76494	0.999	D	0.66196	0.942	T	0.54397	-0.8300	10	0.06625	T	0.88	-13.8562	7.8503	0.29451	0.1351:0.7092:0.0:0.1557	.	342	Q9UIG0	BAZ1B_HUMAN	F	342	ENSP00000342434:L342F;ENSP00000385442:L342F	ENSP00000342434:L342F	L	-	3	2	BAZ1B	72530701	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.517000	0.35867	1.531000	0.49152	0.591000	0.81541	TTG	BAZ1B	-	NULL		0.423	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	C	NM_032408		72892765	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	missense	SNP	1.000	G
BAZ2B	29994	genome.wustl.edu	37	2	160318947	160318947	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:160318947C>G	ENST00000392783.2	-	4	641				BAZ2B_ENST00000483316.1_5'UTR|BAZ2B_ENST00000392782.1_Intron|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000355831.2_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GCTGAGTAATCTTGTTCCAGT	0.423																																																	0																																										SO:0001627	intron_variant	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.146-8635G>C	2.37:g.160318947C>G			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	RNA	SNP	-	NULL	ENST00000392783.2	37	NULL	CCDS2209.2	2																																																																																			BAZ2B	-	-		0.423	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	C			160318947	-1	no_errors	ENST00000483316	ensembl	human	known	70_37	rna	SNP	1.000	G
BCKDK	10295	genome.wustl.edu	37	16	31121765	31121765	+	Missense_Mutation	SNP	C	C	T	rs553956491		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:31121765C>T	ENST00000394951.1	+	8	1210	c.587C>T	c.(586-588)tCg>tTg	p.S196L	BCKDK_ENST00000287507.3_Missense_Mutation_p.S196L|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Missense_Mutation_p.S196L|BCKDK_ENST00000394950.3_Missense_Mutation_p.S196L			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	196	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						ACGCTGACTTCGAGGCTTGGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19040	0.001		0.0	False		,,,				2504	0.0																0													72.0	74.0	73.0					16																	31121765		2197	4300	6497	SO:0001583	missense	10295			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.587C>T	16.37:g.31121765C>T	ENSP00000378405:p.Ser196Leu		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C	p.S196L	ENST00000394951.1	37	c.587	CCDS10705.1	16	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939677	0.92526	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.37	5.37	0.77165	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.057756	0.64402	D	0.000001	T	0.70176	0.3194	H	0.94698	3.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.79112	-0.1937	10	0.87932	D	0	-20.8265	16.393	0.83546	0.0:1.0:0.0:0.0	.	196;196	Q96G95;O14874	.;BCKD_HUMAN	L	196	ENSP00000378405:S196L;ENSP00000219794:S196L;ENSP00000378404:S196L;ENSP00000287507:S196L	ENSP00000219794:S196L	S	+	2	0	BCKDK	31029266	1.000000	0.71417	0.191000	0.23289	0.990000	0.78478	5.196000	0.65136	2.676000	0.91093	0.655000	0.94253	TCG	BCKDK	-	pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N		0.587	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCKDK	HGNC	protein_coding	OTTHUMT00000108514.1	C	NM_005881		31121765	+1	no_errors	ENST00000219794	ensembl	human	known	70_37	missense	SNP	1.000	T
BEST3	144453	genome.wustl.edu	37	12	70037512	70037512	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:70037512G>C	ENST00000331471.4	-	10	1327	c.1156C>G	c.(1156-1158)Cag>Gag	p.Q386E		NM_001282614.1	NP_001269543.1	Q8N1M1	BEST3_HUMAN	bestrophin 3	0					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			aattgaggctgagggagtggg	0.443																																																	0																																										SO:0001583	missense	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000331471.4:c.1156C>G	12.37:g.70037512G>C	ENSP00000329064:p.Gln386Glu		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.Q386E	ENST00000331471.4	37	c.1156		12	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.880179	0.00537	.	.	ENSG00000127325	ENST00000331471	D	0.98028	-4.67	3.73	-0.238	0.13055	.	.	.	.	.	D	0.89245	0.6660	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81333	-0.0980	8	0.02654	T	1	.	3.6427	0.08173	0.33:0.1893:0.4807:0.0	.	386	Q8N1M1-1	.	E	386	ENSP00000329064:Q386E	ENSP00000329064:Q386E	Q	-	1	0	BEST3	68323779	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.523000	0.22925	-0.058000	0.13177	-0.136000	0.14681	CAG	BEST3	-	NULL		0.443	BEST3-008	KNOWN	basic	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000403865.1	G	NM_152439		70037512	-1	no_errors	ENST00000331471	ensembl	human	known	70_37	missense	SNP	0.000	C
BLOC1S3	388552	genome.wustl.edu	37	19	45684652	45684652	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:45684652C>T	ENST00000433642.2	+	0	2194				BLOC1S3_ENST00000588362.1_3'UTR|AC005779.2_ENST00000593083.1_Intron	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|eye development (GO:0001654)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of natural killer cell activation (GO:0032816)|post-Golgi vesicle-mediated transport (GO:0006892)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|transport vesicle (GO:0030133)				ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		ACTCTGTAGGCCAAGGTGGCG	0.577									Hermansky-Pudlak syndrome																																								0																																										SO:0001624	3_prime_UTR_variant	388552	Familial Cancer Database	HPS, HPS1-8	AY531266	CCDS12656.1	19q13.32	2012-08-01	2008-08-11			ENSG00000189114		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20914	protein-coding gene	gene with protein product	"""BLOC-1 subunit 3"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 3"", ""Hermansky-Pudlak syndrome 8"""	609762				15102850	Standard	NM_212550		Approved	BLOS3, HPS8	uc002pax.4	Q6QNY0		ENST00000433642.2:c.*1489C>T	19.37:g.45684652C>T			B2RXB8	RNA	SNP	-	NULL	ENST00000433642.2	37	NULL	CCDS12656.1	19																																																																																			BLOC1S3	-	-		0.577	BLOC1S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLOC1S3	HGNC	protein_coding	OTTHUMT00000457559.1	C	NM_212550		45684652	+1	no_errors	ENST00000588362	ensembl	human	putative	70_37	rna	SNP	0.001	T
BPIFB3	359710	genome.wustl.edu	37	20	31656683	31656683	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:31656683C>G	ENST00000375494.3	+	10	1053	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	351					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CGGTCACACTCCACAACAAGA	0.572																																																	0													130.0	93.0	106.0					20																	31656683		2203	4300	6503	SO:0001819	synonymous_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1053C>G	20.37:g.31656683C>G			Q5TDX7	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L351	ENST00000375494.3	37	c.1053	CCDS13212.1	20																																																																																			BPIFB3	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.572	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2	C	NM_182658		31656683	+1	no_errors	ENST00000375494	ensembl	human	known	70_37	silent	SNP	0.353	G
BRWD3	254065	genome.wustl.edu	37	X	79999748	79999748	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:79999748G>A	ENST00000373275.4	-	8	812	c.596C>T	c.(595-597)tCa>tTa	p.S199L		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	199					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACAGTCATCTGAACCCTATAG	0.358																																																	0													69.0	64.0	66.0					X																	79999748		2203	4299	6502	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.596C>T	X.37:g.79999748G>A	ENSP00000362372:p.Ser199Leu		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S199L	ENST00000373275.4	37	c.596	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690460	0.88735	.	.	ENSG00000165288	ENST00000373275	T	0.74421	-0.84	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.162944	0.42053	D	0.000776	D	0.90899	0.7140	H	0.97587	4.035	0.58432	D	0.999997	D	0.76494	0.999	D	0.74348	0.983	D	0.94405	0.7626	9	.	.	.	-7.9495	16.6563	0.85229	0.0:0.0:1.0:0.0	.	199	Q6RI45	BRWD3_HUMAN	L	199	ENSP00000362372:S199L	.	S	-	2	0	BRWD3	79886404	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.657000	0.98554	2.193000	0.70182	0.415000	0.27848	TCA	BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79999748	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	1.000	A
BTAF1	9044	genome.wustl.edu	37	10	93778648	93778648	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:93778648C>G	ENST00000265990.6	+	34	5127	c.4819C>G	c.(4819-4821)Cta>Gta	p.L1607V	BTAF1_ENST00000544642.1_Missense_Mutation_p.L435V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1607					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAATTCTTCTCTACATGATAT	0.383																																																	0													149.0	139.0	142.0					10																	93778648		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4819C>G	10.37:g.93778648C>G	ENSP00000265990:p.Leu1607Val		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1607V	ENST00000265990.6	37	c.4819	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124398	0.77436	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.75704	-0.96;-0.96	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.80681	0.4669	M	0.76170	2.325	0.80722	D	1	D	0.56035	0.974	P	0.47941	0.562	T	0.82924	-0.0216	10	0.62326	D	0.03	-14.5806	19.7838	0.96428	0.0:1.0:0.0:0.0	.	1607	O14981	BTAF1_HUMAN	V	1607;435;457	ENSP00000265990:L1607V;ENSP00000439924:L435V	ENSP00000265990:L1607V	L	+	1	2	BTAF1	93768628	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.057000	0.71119	2.666000	0.90696	0.557000	0.71058	CTA	BTAF1	-	NULL		0.383	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	C	NM_003972		93778648	+1	no_errors	ENST00000265990	ensembl	human	known	70_37	missense	SNP	1.000	G
BTBD11	121551	genome.wustl.edu	37	12	107937845	107937845	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:107937845C>T	ENST00000280758.5	+	3	1947	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	BTBD11_ENST00000420571.2_Silent_p.F473F|BTBD11_ENST00000490090.2_Silent_p.F473F	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	473						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTTGCTATTTCATGCACTGCC	0.572																																																	0													73.0	64.0	67.0					12																	107937845		2203	4300	6503	SO:0001819	synonymous_variant	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1419C>T	12.37:g.107937845C>T			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.F473	ENST00000280758.5	37	c.1419	CCDS31893.1	12																																																																																			BTBD11	-	NULL		0.572	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	C	NM_152322		107937845	+1	no_errors	ENST00000280758	ensembl	human	known	70_37	silent	SNP	1.000	T
BTN2A1	11120	genome.wustl.edu	37	6	26468258	26468258	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:26468258C>T	ENST00000312541.5	+	8	1313	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Silent_p.F294F|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	355	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GGTGCCCCTTCAGGCACCTAG	0.572																																																	0													108.0	105.0	106.0					6																	26468258		2203	4300	6503	SO:0001819	synonymous_variant	11120			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.1065C>T	6.37:g.26468258C>T			B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.F355	ENST00000312541.5	37	c.1065	CCDS4613.1	6																																																																																			BTN2A1	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,prints_Butyrophylin,pfscan_B30.2/SPRY		0.572	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A1	HGNC	protein_coding	OTTHUMT00000040122.2	C	NM_007049		26468258	+1	no_errors	ENST00000312541	ensembl	human	known	70_37	silent	SNP	0.000	T
C10orf12	26148	genome.wustl.edu	37	10	98742267	98742267	+	Missense_Mutation	SNP	G	G	A	rs373519273		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:98742267G>A	ENST00000286067.2	+	1	1227	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	374								p.D374N(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGTCAGTGAAGATGTCATTTC	0.517																																																	2	Substitution - Missense(2)	lung(2)						G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	84.0	84.0	84.0		1120	2.8	0.4	10		84	0,8600		0,0,4300	no	missense	C10orf12	NM_015652.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	374/1248	98742267	1,13005	2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1120G>A	10.37:g.98742267G>A	ENSP00000286067:p.Asp374Asn		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.D374N	ENST00000286067.2	37	c.1120	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	G	7.252	0.603499	0.14002	2.27E-4	0.0	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09073	3.02	6.05	2.82	0.32997	.	0.598474	0.13669	N	0.371010	T	0.07279	0.0184	L	0.27053	0.805	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12156	0.007;0.007	T	0.29058	-1.0024	10	0.59425	D	0.04	0.2316	11.102	0.48179	0.2285:0.0:0.7715:0.0	.	208;374	A0PJI9;Q8N655	.;CJ012_HUMAN	N	374;208	ENSP00000286067:D374N	ENSP00000286067:D374N	D	+	1	0	C10orf12	98732257	0.004000	0.15560	0.405000	0.26409	0.267000	0.26476	1.157000	0.31724	0.910000	0.36722	-0.768000	0.03414	GAT	C10orf12	-	NULL		0.517	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	G	NM_015652		98742267	+1	no_errors	ENST00000286067	ensembl	human	known	70_37	missense	SNP	0.097	A
C11orf63	79864	genome.wustl.edu	37	11	122805695	122805695	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:122805695C>G	ENST00000531316.1	+	4	1638	c.1546C>G	c.(1546-1548)Cac>Gac	p.H516D	C11orf63_ENST00000227349.2_Missense_Mutation_p.H516D			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	516					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTTTGTTTATCACATAAATAC	0.378																																																	0													71.0	74.0	73.0					11																	122805695		2202	4299	6501	SO:0001583	missense	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1546C>G	11.37:g.122805695C>G	ENSP00000431669:p.His516Asp		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.H516D	ENST00000531316.1	37	c.1546	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	C	6.415	0.444707	0.12164	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.21191	2.02;2.02	5.92	-1.36	0.09085	.	1.641560	0.03017	N	0.150206	T	0.16981	0.0408	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26360	-1.0105	10	0.36615	T	0.2	-0.0635	6.143	0.20271	0.3611:0.4405:0.1984:0.0	.	516	Q6NUN7	CK063_HUMAN	D	516	ENSP00000227349:H516D;ENSP00000431669:H516D	ENSP00000227349:H516D	H	+	1	0	C11orf63	122310905	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.357000	0.20199	-0.174000	0.10743	-0.271000	0.10264	CAC	C11orf63	-	NULL		0.378	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	C	NM_024806		122805695	+1	no_errors	ENST00000227349	ensembl	human	known	70_37	missense	SNP	0.000	G
C12orf71	728858	genome.wustl.edu	37	12	27235002	27235002	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:27235002G>C	ENST00000429849.2	-	1	445	c.415C>G	c.(415-417)Cag>Gag	p.Q139E		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	139										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						AGAAATATCTGAAACTCTTGC	0.408																																																	0													62.0	57.0	59.0					12																	27235002		1839	4092	5931	SO:0001583	missense	728858				CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.415C>G	12.37:g.27235002G>C	ENSP00000413728:p.Gln139Glu			Missense_Mutation	SNP	NULL	p.Q139E	ENST00000429849.2	37	c.415	CCDS44851.1	12	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.232761	0.00277	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.21932	1.98	3.22	1.32	0.21799	.	0.265904	0.19338	N	0.116735	T	0.05410	0.0143	N	0.02247	-0.625	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40059	-0.9583	10	0.02654	T	1	-4.6049	4.507	0.11893	0.0:0.6256:0.2376:0.1368	.	139	A8MTZ7	CL071_HUMAN	E	139	ENSP00000413728:Q139E	ENSP00000381796:Q139E	Q	-	1	0	C12orf71	27126269	0.024000	0.19004	0.028000	0.17463	0.010000	0.07245	0.490000	0.22403	0.195000	0.20347	-0.416000	0.06073	CAG	C12orf71	-	NULL		0.408	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf71	HGNC	protein_coding	OTTHUMT00000403258.1	G	NM_001080406		27235002	-1	no_errors	ENST00000429849	ensembl	human	known	70_37	missense	SNP	0.013	C
SMCO2	341346	genome.wustl.edu	37	12	27628604	27628604	+	Missense_Mutation	SNP	G	G	A	rs573595707		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:27628604G>A	ENST00000535986.1	+	4	452	c.452G>A	c.(451-453)gGa>gAa	p.G151E	SMCO2_ENST00000416383.1_Missense_Mutation_p.G151E|SMCO2_ENST00000538647.1_3'UTR|SMCO2_ENST00000298876.4_Intron			A6NFE2	SMCO2_HUMAN	single-pass membrane protein with coiled-coil domains 2	151						integral component of membrane (GO:0016021)											TACATAGACGGAACGGAGAAA	0.383																																																	0													68.0	55.0	59.0					12																	27628604		692	1591	2283	SO:0001583	missense	341346				CCDS44852.1	12p11.23	2013-03-11	2013-03-11	2013-03-11	ENSG00000165935	ENSG00000165935			34448	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 70"""	C12orf70			Standard	NM_001145010		Approved	LOC341346	uc010sjq.2	A6NFE2	OTTHUMG00000169205	ENST00000535986.1:c.452G>A	12.37:g.27628604G>A	ENSP00000441688:p.Gly151Glu			Missense_Mutation	SNP	NULL	p.G151E	ENST00000535986.1	37	c.452	CCDS44852.1	12	.	.	.	.	.	.	.	.	.	.	G	4.963	0.178923	0.09443	.	.	ENSG00000165935	ENST00000416383;ENST00000535986	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	T	0.23846	0.0577	N	0.08118	0	0.09310	N	1	B	0.18968	0.032	B	0.21917	0.037	T	0.10847	-1.0612	8	0.22109	T	0.4	.	11.6067	0.51037	0.0:0.0:1.0:0.0	.	151	A6NFE2	CL070_HUMAN	E	151	.	ENSP00000387617:G151E	G	+	2	0	C12orf70	27519871	0.585000	0.26774	0.028000	0.17463	0.001000	0.01503	2.226000	0.42963	2.193000	0.70182	0.655000	0.94253	GGA	C12orf70	-	NULL		0.383	SMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf70	HGNC	protein_coding	OTTHUMT00000402867.1	G	NM_001145010		27628604	+1	no_errors	ENST00000416383	ensembl	human	known	70_37	missense	SNP	0.059	A
C14orf182	283551	genome.wustl.edu	37	14	50472203	50472203	+	5'UTR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:50472203G>A	ENST00000529902.1	-	0	1034				C14orf182_ENST00000399206.1_Intron			A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182											large_intestine(2)|urinary_tract(1)	3						AAAGGAGAAAGAGATAAAGCA	0.507																																																	0																																										SO:0001623	5_prime_UTR_variant	283551			AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000529902.1:c.-3245C>T	14.37:g.50472203G>A			A8MYX4	RNA	SNP	-	NULL	ENST00000529902.1	37	NULL		14																																																																																			C14orf182	-	-		0.507	C14orf182-004	KNOWN	basic	processed_transcript	C14orf182	HGNC	protein_coding	OTTHUMT00000395721.1	G	NM_001012706		50472203	-1	no_errors	ENST00000529902	ensembl	human	known	70_37	rna	SNP	0.013	A
C16orf72	29035	genome.wustl.edu	37	16	9196861	9196861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:9196861C>T	ENST00000327827.7	+	3	725	c.328C>T	c.(328-330)Cga>Tga	p.R110*	RP11-473I1.9_ENST00000574285.1_RNA|RP11-473I1.5_ENST00000565648.1_RNA	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	110										endometrium(4)|large_intestine(2)|lung(2)	8						TACCCATCAACGAAGTTTTGA	0.368																																																	0													89.0	90.0	90.0					16																	9196861		2197	4300	6497	SO:0001587	stop_gained	29035			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.328C>T	16.37:g.9196861C>T	ENSP00000331720:p.Arg110*			Nonsense_Mutation	SNP	NULL	p.R110*	ENST00000327827.7	37	c.328	CCDS10538.1	16	.	.	.	.	.	.	.	.	.	.	C	40	8.469124	0.98825	.	.	ENSG00000182831	ENST00000327827	.	.	.	5.98	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7932	16.6202	0.84928	0.1312:0.8688:0.0:0.0	.	.	.	.	X	110	.	ENSP00000331720:R110X	R	+	1	2	C16orf72	9104362	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.190000	0.50973	1.521000	0.48983	0.591000	0.81541	CGA	C16orf72	-	NULL		0.368	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf72	HGNC	protein_coding	OTTHUMT00000440760.2	C	NM_014117		9196861	+1	no_errors	ENST00000327827	ensembl	human	known	70_37	nonsense	SNP	1.000	T
C17orf107	100130311	genome.wustl.edu	37	17	4803096	4803096	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:4803096G>C	ENST00000381365.3	+	1	266	c.39G>C	c.(37-39)tgG>tgC	p.W13C	CHRNE_ENST00000575637.1_5'Flank|CHRNE_ENST00000293780.4_Intron|C17orf107_ENST00000521575.1_Missense_Mutation_p.W13C	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107	13										endometrium(2)	2						CCCTGATGTGGATCTACCACT	0.647																																																	0													48.0	53.0	51.0					17																	4803096		692	1591	2283	SO:0001583	missense	100130311			AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838	ENST00000381365.3:c.39G>C	17.37:g.4803096G>C	ENSP00000370770:p.Trp13Cys			Missense_Mutation	SNP	NULL	p.W13C	ENST00000381365.3	37	c.39	CCDS45591.1	17	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194960	0.38806	.	.	ENSG00000205710	ENST00000521575;ENST00000381365	.	.	.	4.64	4.64	0.57946	.	0.300122	0.18503	U	0.139289	T	0.62233	0.2411	N	0.24115	0.695	0.48975	D	0.999737	D;D	0.89917	1.0;1.0	D;D	0.70016	0.951;0.967	T	0.65631	-0.6121	9	0.87932	D	0	-9.3895	12.8716	0.57968	0.0:0.0:1.0:0.0	.	13;13	E5RJ01;Q6ZR85	.;CQ107_HUMAN	C	13	.	ENSP00000370770:W13C	W	+	3	0	C17orf107	4743875	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.679000	0.46909	2.413000	0.81919	0.561000	0.74099	TGG	C17orf107	-	NULL		0.647	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf107	HGNC	protein_coding	OTTHUMT00000380556.1	G	NM_001145536		4803096	+1	no_errors	ENST00000381365	ensembl	human	known	70_37	missense	SNP	1.000	C
C18orf25	147339	genome.wustl.edu	37	18	43796150	43796150	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:43796150C>T	ENST00000282059.6	+	2	678	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	C18orf25_ENST00000321319.6_Missense_Mutation_p.H102Y	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	102										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						CTCTAGTGGTCACCTGGCTGA	0.517																																																	0													136.0	136.0	136.0					18																	43796150		1973	4152	6125	SO:0001583	missense	147339			AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.304C>T	18.37:g.43796150C>T	ENSP00000282059:p.His102Tyr		A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	NULL	p.H102Y	ENST00000282059.6	37	c.304	CCDS42430.1	18	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030581	0.75504	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.78910	0.4358	M	0.62723	1.935	0.80722	D	1	D;D	0.67145	0.989;0.996	D;D	0.75484	0.979;0.986	T	0.78919	-0.2014	9	0.87932	D	0	-7.6719	20.3967	0.98985	0.0:1.0:0.0:0.0	.	102;102	Q96B23-2;Q96B23	.;CR025_HUMAN	Y	102	.	ENSP00000282059:H102Y	H	+	1	0	C18orf25	42050148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.438000	0.80431	2.829000	0.97493	0.655000	0.94253	CAC	C18orf25	-	NULL		0.517	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf25	HGNC	protein_coding	OTTHUMT00000445242.1	C	NM_145055		43796150	+1	no_errors	ENST00000282059	ensembl	human	putative	70_37	missense	SNP	1.000	T
C1QTNF6	114904	genome.wustl.edu	37	22	37581360	37581360	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:37581360C>G	ENST00000337843.2	-	2	262	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.E63Q|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_5'Flank	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	44					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						AGGGGGTCCTCAGAGTCACAG	0.592																																																	0													39.0	38.0	38.0					22																	37581360		2203	4300	6503	SO:0001583	missense	114904			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.187G>C	22.37:g.37581360C>G	ENSP00000338812:p.Glu63Gln		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.E63Q	ENST00000337843.2	37	c.187	CCDS13943.1	22	.	.	.	.	.	.	.	.	.	.	C	1.136	-0.650958	0.03506	.	.	ENSG00000133466	ENST00000397110;ENST00000337843	T;T	0.37058	1.22;1.22	4.49	-2.36	0.06663	.	0.880909	0.09807	N	0.753310	T	0.28466	0.0704	L	0.57536	1.79	0.09310	N	1	B;B	0.23249	0.082;0.006	B;B	0.20577	0.03;0.004	T	0.36480	-0.9746	10	0.14252	T	0.57	.	8.6528	0.34044	0.0:0.2464:0.5713:0.1822	.	63;44	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	Q	63	ENSP00000380299:E63Q;ENSP00000338812:E63Q	ENSP00000338812:E63Q	E	-	1	0	C1QTNF6	35911306	0.001000	0.12720	0.012000	0.15200	0.063000	0.16089	1.177000	0.31969	0.002000	0.14630	-0.479000	0.04858	GAG	C1QTNF6	-	NULL		0.592	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	C	NM_182486		37581360	-1	no_errors	ENST00000337843	ensembl	human	known	70_37	missense	SNP	0.000	G
C1orf159	54991	genome.wustl.edu	37	1	1017588	1017588	+	3'UTR	SNP	G	G	C	rs574996656		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:1017588G>C	ENST00000379339.1	-	0	2038				C1orf159_ENST00000421241.2_3'UTR|C1orf159_ENST00000448924.1_3'UTR|C1orf159_ENST00000482816.1_5'Flank|C1orf159_ENST00000294576.5_3'UTR			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159							integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CAGCGGATCCGAGCGGGGCCA	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	54991			AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.*685C>G	1.37:g.1017588G>C			B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	RNA	SNP	-	NULL	ENST00000379339.1	37	NULL		1																																																																																			C1orf159	-	-		0.577	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf159	HGNC	protein_coding	OTTHUMT00000001851.2	G	NM_017891		1017588	-1	no_errors	ENST00000464905	ensembl	human	known	70_37	rna	SNP	0.001	C
C1orf159	54991	genome.wustl.edu	37	1	1018005	1018005	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:1018005G>A	ENST00000379339.1	-	0	1621				C1orf159_ENST00000379320.1_3'UTR|C1orf159_ENST00000421241.2_3'UTR|C1orf159_ENST00000448924.1_3'UTR|C1orf159_ENST00000482816.1_5'Flank|C1orf159_ENST00000294576.5_3'UTR			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159							integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGGGGGCCCGGACCCCCCAAG	0.657																																																	0																																										SO:0001624	3_prime_UTR_variant	54991			AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.*268C>T	1.37:g.1018005G>A			B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	RNA	SNP	-	NULL	ENST00000379339.1	37	NULL		1																																																																																			C1orf159	-	-		0.657	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf159	HGNC	protein_coding	OTTHUMT00000001851.2	G	NM_017891		1018005	-1	no_errors	ENST00000464905	ensembl	human	known	70_37	rna	SNP	0.014	A
C1orf123	54987	genome.wustl.edu	37	1	53686129	53686129	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:53686129C>T	ENST00000294360.4	-	1	48				RP5-1024G6.7_ENST00000569869.1_RNA|C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						CCTTCTGCCTCCTGCTCCTTC	0.716																																																	0																																										SO:0001627	intron_variant	54987			BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.6+112G>A	1.37:g.53686129C>T				RNA	SNP	-	NULL	ENST00000294360.4	37	NULL	CCDS576.1	1																																																																																			C1orf123	-	-		0.716	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf123	HGNC	protein_coding	OTTHUMT00000024751.1	C	NM_017887		53686129	-1	no_errors	ENST00000470385	ensembl	human	known	70_37	rna	SNP	0.001	T
C1orf204	284677	genome.wustl.edu	37	1	159810630	159810630	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:159810630G>C	ENST00000368102.1	-	4	578	c.469C>G	c.(469-471)Cca>Gca	p.P157A	C1orf204_ENST00000491974.1_Intron	NM_001134233.1	NP_001127705.1	Q5VU13	VSIG8_HUMAN	chromosome 1 open reading frame 204	0	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			kidney(1)	1						GCTGCTAATGGAGCATTTATT	0.542																																																	0													48.0	50.0	49.0					1																	159810630		692	1591	2283	SO:0001583	missense	284677			AK096506	CCDS44253.1	1q23.1	2012-07-30			ENSG00000188004	ENSG00000188004			27647	protein-coding gene	gene with protein product							Standard	NM_001134233		Approved	FLJ39187		Q5VU13	OTTHUMG00000035430	ENST00000368102.1:c.469C>G	1.37:g.159810630G>C	ENSP00000357082:p.Pro157Ala		Q5VU14	Missense_Mutation	SNP	NULL	p.P157A	ENST00000368102.1	37	c.469	CCDS44253.1	1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944079	0.34283	.	.	ENSG00000188004	ENST00000368102	.	.	.	2.93	-1.35	0.09114	.	.	.	.	.	T	0.11495	0.0280	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.34129	-0.9841	7	0.87932	D	0	.	4.787	0.13230	0.2643:0.4593:0.2763:0.0	.	157	Q5VU13-2	.	A	157	.	ENSP00000357082:P157A	P	-	1	0	C1orf204	158077254	0.003000	0.15002	0.001000	0.08648	0.005000	0.04900	-0.079000	0.11357	-0.270000	0.09285	-0.339000	0.08088	CCA	C1orf204	-	NULL		0.542	C1orf204-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C1orf204	HGNC	protein_coding	OTTHUMT00000085976.1	G	NM_001134233		159810630	-1	no_errors	ENST00000368102	ensembl	human	novel	70_37	missense	SNP	0.001	C
C1orf226	400793	genome.wustl.edu	37	1	162353381	162353381	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:162353381G>A	ENST00000458626.2	+	2	899	c.727G>A	c.(727-729)Gag>Aag	p.E243K	C1orf226_ENST00000426197.2_Missense_Mutation_p.E286K	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	243										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						CAGCCTGGCTGAGTCCTGGGA	0.592																																																	0													23.0	26.0	25.0					1																	162353381		2006	4162	6168	SO:0001583	missense	400793			AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.727G>A	1.37:g.162353381G>A	ENSP00000437071:p.Glu243Lys		B4DF31	Missense_Mutation	SNP	NULL	p.E286K	ENST00000458626.2	37	c.856	CCDS53422.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756574	0.89843	.	.	ENSG00000239887	ENST00000426197;ENST00000458626	.	.	.	5.41	4.49	0.54785	.	.	.	.	.	T	0.33962	0.0881	L	0.29908	0.895	.	.	.	P;P	0.47841	0.901;0.78	P;P	0.47827	0.558;0.461	T	0.14896	-1.0456	6	.	.	.	0.9414	14.9681	0.71210	0.0:0.1434:0.8566:0.0	.	286;243	A1L170-2;A1L170	.;CA226_HUMAN	K	286;243	.	.	E	+	1	0	C1orf226	160620005	0.995000	0.38212	0.109000	0.21407	0.977000	0.68977	2.352000	0.44080	1.266000	0.44231	0.655000	0.94253	GAG	C1orf226	-	NULL		0.592	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf226	HGNC	protein_coding	OTTHUMT00000076793.2	G	NM_001085375		162353381	+1	no_errors	ENST00000426197	ensembl	human	known	70_37	missense	SNP	0.992	A
C1orf87	127795	genome.wustl.edu	37	1	60463473	60463473	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:60463473C>T	ENST00000371201.3	-	11	1395	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	C1orf87_ENST00000450089.2_Missense_Mutation_p.E201K|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Missense_Mutation_p.E64K	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	430							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCTGCAGCTCCTCTTCTGGA	0.488																																					NSCLC(75;811 1386 4923 13371 51772)												0													58.0	58.0	58.0					1																	60463473		2203	4300	6503	SO:0001583	missense	127795			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1288G>A	1.37:g.60463473C>T	ENSP00000360244:p.Glu430Lys		Q6ZU07|Q8IVS0	Missense_Mutation	SNP	NULL	p.E430K	ENST00000371201.3	37	c.1288	CCDS614.1	1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899554	0.33535	.	.	ENSG00000162598	ENST00000371201;ENST00000395552;ENST00000450089	T;T	0.33865	2.18;1.39	5.21	0.459	0.16678	.	0.702315	0.12853	N	0.433742	T	0.16727	0.0402	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.21381	-1.0247	10	0.27785	T	0.31	-0.9994	4.012	0.09627	0.0:0.4717:0.1731:0.3552	.	430	Q8N0U7	CA087_HUMAN	K	430;64;201	ENSP00000360244:E430K;ENSP00000378921:E64K	ENSP00000360244:E430K	E	-	1	0	C1orf87	60236061	0.005000	0.15991	0.035000	0.18076	0.939000	0.58152	0.237000	0.17985	-0.067000	0.12976	0.650000	0.86243	GAG	C1orf87	-	NULL		0.488	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	HGNC	protein_coding	OTTHUMT00000024943.1	C	NM_152377		60463473	-1	no_errors	ENST00000371201	ensembl	human	known	70_37	missense	SNP	0.035	T
C1orf87	127795	genome.wustl.edu	37	1	60474327	60474327	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:60474327C>T	ENST00000371201.3	-	9	1300				C1orf87_ENST00000450089.2_Intron|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Silent_p.L29L	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87								calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CACCTAGCATCAGAAGAGCTA	0.458																																					NSCLC(75;811 1386 4923 13371 51772)												0																																										SO:0001627	intron_variant	127795			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1192+1736G>A	1.37:g.60474327C>T			Q6ZU07|Q8IVS0	Silent	SNP	NULL	p.L29	ENST00000371201.3	37	c.87	CCDS614.1	1																																																																																			C1orf87	-	NULL		0.458	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	HGNC	protein_coding	OTTHUMT00000024943.1	C	NM_152377		60474327	-1	no_errors	ENST00000395552	ensembl	human	known	70_37	silent	SNP	0.000	T
C1orf95	375057	genome.wustl.edu	37	1	226784513	226784513	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:226784513C>G	ENST00000366788.3	+	2	318	c.213C>G	c.(211-213)gtC>gtG	p.V71V	C1orf95_ENST00000366789.4_Silent_p.V71V	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	71						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GGACATTCGTCTCGGCCTTCA	0.627																																																	0													85.0	81.0	83.0					1																	226784513		2203	4300	6503	SO:0001819	synonymous_variant	375057			AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.213C>G	1.37:g.226784513C>G			A6NGL2	Silent	SNP	NULL	p.V71	ENST00000366788.3	37	c.213	CCDS31044.1	1																																																																																			C1orf95	-	NULL		0.627	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf95	HGNC	protein_coding	OTTHUMT00000091634.1	C	NM_001003665		226784513	+1	no_errors	ENST00000366788	ensembl	human	known	70_37	silent	SNP	1.000	G
C1orf35	79169	genome.wustl.edu	37	1	228289722	228289722	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:228289722C>T	ENST00000272139.4	-	6	768				C1orf35_ENST00000472617.1_Intron	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35								poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				GGGAGCCGCTCCGGTCCTCCC	0.677																																																	0																																										SO:0001627	intron_variant	79169			AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"""multiple myeloma tumor-associated protein 2"""					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.533+58G>A	1.37:g.228289722C>T			Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	RNA	SNP	-	NULL	ENST00000272139.4	37	NULL	CCDS1566.1	1																																																																																			C1orf35	-	-		0.677	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf35	HGNC	protein_coding	OTTHUMT00000092245.1	C	NM_024319		228289722	-1	no_errors	ENST00000469781	ensembl	human	known	70_37	rna	SNP	0.000	T
C20orf173	140873	genome.wustl.edu	37	20	34116570	34116570	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:34116570T>A	ENST00000246199.2	-	2	567	c.289A>T	c.(289-291)Agc>Tgc	p.S97C	C20orf173_ENST00000444723.1_Missense_Mutation_p.S150C|RP3-477O4.5_ENST00000422009.1_RNA|C20orf173_ENST00000374345.4_Missense_Mutation_p.S150C			Q96LM9	CT173_HUMAN	chromosome 20 open reading frame 173	97										haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						TTGCCAAGGCTGGAGCCCTGC	0.587																																																	0													30.0	28.0	29.0					20																	34116570		692	1591	2283	SO:0001583	missense	140873			AL121586	CCDS46594.1	20q11.22	2012-10-30			ENSG00000125975	ENSG00000125975			16166	protein-coding gene	gene with protein product							Standard	NM_001145350		Approved	dJ477O4.4	uc010zvf.1	Q96LM9	OTTHUMG00000032340	ENST00000246199.2:c.289A>T	20.37:g.34116570T>A	ENSP00000246199:p.Ser97Cys		A6PVJ1|Q2M293|Q5JWS4|Q9H449	Missense_Mutation	SNP	NULL	p.S150C	ENST00000246199.2	37	c.448		20	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819899	0.32145	.	.	ENSG00000125975	ENST00000246199;ENST00000444723;ENST00000374345	T;T;T	0.42131	0.98;0.98;0.98	3.68	-5.13	0.02884	.	1.872850	0.02484	N	0.088748	T	0.43122	0.1233	L	0.43152	1.355	0.09310	N	1	D;P	0.61697	0.99;0.64	P;B	0.50192	0.634;0.326	T	0.55366	-0.8152	10	0.62326	D	0.03	.	9.5415	0.39255	0.0:0.702:0.1283:0.1697	.	150;97	E9PFA0;Q96LM9	.;CT173_HUMAN	C	97;150;150	ENSP00000246199:S97C;ENSP00000403566:S150C;ENSP00000363465:S150C	ENSP00000246199:S97C	S	-	1	0	C20orf173	33579984	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.625000	0.05534	-0.901000	0.03891	-0.376000	0.06991	AGC	C20orf173	-	NULL		0.587	C20orf173-001	KNOWN	basic	protein_coding	C20orf173	HGNC	protein_coding	OTTHUMT00000078874.6	T	NM_001145350		34116570	-1	no_errors	ENST00000444723	ensembl	human	known	70_37	missense	SNP	0.000	A
C20orf173	140873	genome.wustl.edu	37	20	34116651	34116651	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:34116651G>C	ENST00000246199.2	-	2	486	c.208C>G	c.(208-210)Ccc>Gcc	p.P70A	C20orf173_ENST00000444723.1_Missense_Mutation_p.P123A|RP3-477O4.5_ENST00000422009.1_RNA|C20orf173_ENST00000374345.4_Missense_Mutation_p.P123A			Q96LM9	CT173_HUMAN	chromosome 20 open reading frame 173	70										haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						GAGAGCCTGGGAATCCCTTTA	0.572																																																	0													51.0	47.0	48.0					20																	34116651		692	1591	2283	SO:0001583	missense	140873			AL121586	CCDS46594.1	20q11.22	2012-10-30			ENSG00000125975	ENSG00000125975			16166	protein-coding gene	gene with protein product							Standard	NM_001145350		Approved	dJ477O4.4	uc010zvf.1	Q96LM9	OTTHUMG00000032340	ENST00000246199.2:c.208C>G	20.37:g.34116651G>C	ENSP00000246199:p.Pro70Ala		A6PVJ1|Q2M293|Q5JWS4|Q9H449	Missense_Mutation	SNP	NULL	p.P123A	ENST00000246199.2	37	c.367		20	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971227	0.53614	.	.	ENSG00000125975	ENST00000246199;ENST00000444723;ENST00000374345;ENST00000424444	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	4.4	3.44	0.39384	.	0.396652	0.21861	N	0.068030	T	0.53238	0.1784	M	0.63843	1.955	0.23632	N	0.997245	D;D	0.76494	0.999;0.974	D;P	0.83275	0.996;0.854	T	0.33854	-0.9852	10	0.87932	D	0	.	10.0794	0.42379	0.1019:0.0:0.8981:0.0	.	123;70	E9PFA0;Q96LM9	.;CT173_HUMAN	A	70;123;123;40	ENSP00000246199:P70A;ENSP00000403566:P123A;ENSP00000363465:P123A;ENSP00000388785:P40A	ENSP00000246199:P70A	P	-	1	0	C20orf173	33580065	0.981000	0.34729	0.497000	0.27552	0.032000	0.12392	2.892000	0.48625	2.447000	0.82792	0.563000	0.77884	CCC	C20orf173	-	NULL		0.572	C20orf173-001	KNOWN	basic	protein_coding	C20orf173	HGNC	protein_coding	OTTHUMT00000078874.6	G	NM_001145350		34116651	-1	no_errors	ENST00000444723	ensembl	human	known	70_37	missense	SNP	0.848	C
C20orf173	140873	genome.wustl.edu	37	20	34116795	34116795	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:34116795G>A	ENST00000246199.2	-	2	342	c.64C>T	c.(64-66)Cac>Tac	p.H22Y	C20orf173_ENST00000444723.1_Intron|RP3-477O4.5_ENST00000422009.1_RNA|C20orf173_ENST00000374345.4_Intron			Q96LM9	CT173_HUMAN	chromosome 20 open reading frame 173	22										haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						CAGAGGCTGTGAAGACAGGGC	0.607																																																	0													45.0	46.0	46.0					20																	34116795		692	1591	2283	SO:0001583	missense	140873			AL121586	CCDS46594.1	20q11.22	2012-10-30			ENSG00000125975	ENSG00000125975			16166	protein-coding gene	gene with protein product							Standard	NM_001145350		Approved	dJ477O4.4	uc010zvf.1	Q96LM9	OTTHUMG00000032340	ENST00000246199.2:c.64C>T	20.37:g.34116795G>A	ENSP00000246199:p.His22Tyr		A6PVJ1|Q2M293|Q5JWS4|Q9H449	Missense_Mutation	SNP	NULL	p.H22Y	ENST00000246199.2	37	c.64		20	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601095	0.28534	.	.	ENSG00000125975	ENST00000246199	T	0.41758	0.99	3.34	0.251	0.15540	.	.	.	.	.	T	0.26846	0.0657	.	.	.	0.09310	N	1	B	0.27882	0.192	B	0.28784	0.094	T	0.29549	-1.0008	8	0.59425	D	0.04	.	1.6734	0.02817	0.1251:0.2093:0.4508:0.2149	.	22	Q96LM9	CT173_HUMAN	Y	22	ENSP00000246199:H22Y	ENSP00000246199:H22Y	H	-	1	0	C20orf173	33580209	0.006000	0.16342	0.001000	0.08648	0.088000	0.18126	-0.005000	0.12855	0.095000	0.17434	0.563000	0.77884	CAC	C20orf173	-	NULL		0.607	C20orf173-001	KNOWN	basic	protein_coding	C20orf173	HGNC	protein_coding	OTTHUMT00000078874.6	G	NM_001145350		34116795	-1	no_errors	ENST00000246199	ensembl	human	known	70_37	missense	SNP	0.001	A
C20orf173	140873	genome.wustl.edu	37	20	34116809	34116809	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:34116809G>T	ENST00000246199.2	-	2	328	c.50C>A	c.(49-51)cCt>cAt	p.P17H	C20orf173_ENST00000444723.1_Intron|RP3-477O4.5_ENST00000422009.1_RNA|C20orf173_ENST00000374345.4_Intron			Q96LM9	CT173_HUMAN	chromosome 20 open reading frame 173	17										haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						ACAGGGCCAAGGGCAGGGATT	0.607																																																	0													49.0	50.0	50.0					20																	34116809		692	1591	2283	SO:0001583	missense	140873			AL121586	CCDS46594.1	20q11.22	2012-10-30			ENSG00000125975	ENSG00000125975			16166	protein-coding gene	gene with protein product							Standard	NM_001145350		Approved	dJ477O4.4	uc010zvf.1	Q96LM9	OTTHUMG00000032340	ENST00000246199.2:c.50C>A	20.37:g.34116809G>T	ENSP00000246199:p.Pro17His		A6PVJ1|Q2M293|Q5JWS4|Q9H449	Missense_Mutation	SNP	NULL	p.P17H	ENST00000246199.2	37	c.50		20	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651507	0.47362	.	.	ENSG00000125975	ENST00000246199	T	0.43294	0.95	4.74	1.36	0.22044	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.09310	N	1	D	0.71674	0.998	P	0.62740	0.906	T	0.29971	-0.9994	8	0.21540	T	0.41	.	5.6235	0.17470	0.4029:0.0:0.5971:0.0	.	17	Q96LM9	CT173_HUMAN	H	17	ENSP00000246199:P17H	ENSP00000246199:P17H	P	-	2	0	C20orf173	33580223	0.003000	0.15002	0.002000	0.10522	0.016000	0.09150	0.784000	0.26816	0.540000	0.28808	0.563000	0.77884	CCT	C20orf173	-	NULL		0.607	C20orf173-001	KNOWN	basic	protein_coding	C20orf173	HGNC	protein_coding	OTTHUMT00000078874.6	G	NM_001145350		34116809	-1	no_errors	ENST00000246199	ensembl	human	known	70_37	missense	SNP	0.001	T
C20orf166-AS1	253868	genome.wustl.edu	37	20	61143780	61143780	+	RNA	SNP	C	C	T	rs576312365		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:61143780C>T	ENST00000475015.1	-	0	558				C20orf166-AS1_ENST00000412495.1_RNA|C20orf166-AS1_ENST00000436101.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1																		CTCCTGCGTCCGCCCTCCGCT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17086	0.001		0.0	False		,,,				2504	0.0																0													101.0	93.0	96.0					20																	61143780		2203	4299	6502			253868			AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143780C>T			Q52LN1	RNA	SNP	-	NULL	ENST00000475015.1	37	NULL		20																																																																																			C20orf166-AS1	-	-		0.667	C20orf166-AS1-002	KNOWN	basic	antisense	C20orf166-AS1	HGNC	antisense	OTTHUMT00000109266.2	C	NR_033263		61143780	-1	no_errors	ENST00000412495	ensembl	human	known	70_37	rna	SNP	0.000	T
C2CD3	26005	genome.wustl.edu	37	11	73748734	73748734	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:73748734C>T	ENST00000334126.7	-	30	5896	c.5670G>A	c.(5668-5670)ctG>ctA	p.L1890L	C2CD3_ENST00000313663.7_Silent_p.L1890L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1890					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)					CAAGCTCACTCAGATTCTTCC	0.493																																																	0													46.0	44.0	45.0					11																	73748734		2200	4293	6493	SO:0001819	synonymous_variant	26005			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.5670G>A	11.37:g.73748734C>T			C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.L1890	ENST00000334126.7	37	c.5670		11																																																																																			C2CD3	-	NULL		0.493	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73748734	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	silent	SNP	1.000	T
CATIP	375307	genome.wustl.edu	37	2	219227621	219227621	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:219227621C>A	ENST00000289388.3	+	6	655	c.626C>A	c.(625-627)aCc>aAc	p.T209N	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		209					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTATTTGACCTATGTAAGG	0.582																																																	0													41.0	38.0	39.0					2																	219227621		2203	4300	6503	SO:0001583	missense	375307																														ENST00000289388.3:c.626C>A	2.37:g.219227621C>A	ENSP00000289388:p.Thr209Asn			Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.T209N	ENST00000289388.3	37	c.626	CCDS2414.1	2	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831180	0.50845	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.7	3.82	0.43975	.	0.116701	0.56097	D	0.000021	T	0.73598	0.3607	M	0.66939	2.045	0.40947	D	0.984513	D	0.67145	0.996	P	0.60541	0.876	T	0.78084	-0.2342	9	0.72032	D	0.01	-0.4272	13.9156	0.63895	0.0:0.8461:0.1539:0.0	.	209	Q7Z7H3	CB062_HUMAN	N	209	.	ENSP00000289388:T209N	T	+	2	0	C2orf62	218935865	0.999000	0.42202	0.154000	0.22540	0.413000	0.31143	3.854000	0.55949	1.179000	0.42884	0.655000	0.94253	ACC	C2orf62	-	NULL		0.582	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf62	HGNC	protein_coding	OTTHUMT00000256771.1	C			219227621	+1	no_errors	ENST00000289388	ensembl	human	known	70_37	missense	SNP	0.996	A
C3	718	genome.wustl.edu	37	19	6694617	6694617	+	Missense_Mutation	SNP	A	A	C	rs199690614		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:6694617A>C	ENST00000245907.6	-	24	3071	c.2979T>G	c.(2977-2979)gaT>gaG	p.D993E		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	993					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGTCGACGGCATCCTCTGTCA	0.622																																																	0													51.0	44.0	47.0					19																	6694617		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2979T>G	19.37:g.6694617A>C	ENSP00000245907:p.Asp993Glu		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,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.D993E	ENST00000245907.6	37	c.2979	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	A	5.726	0.318461	0.10845	.	.	ENSG00000125730	ENST00000245907	T	0.34275	1.37	5.77	-11.5	0.00074	.	0.467955	0.23872	N	0.043721	T	0.20455	0.0492	M	0.66506	2.035	0.09310	N	0.999996	B	0.06786	0.001	B	0.12837	0.008	T	0.34675	-0.9819	10	0.10636	T	0.68	.	5.8294	0.18572	0.5657:0.0721:0.2177:0.1446	.	993	P01024	CO3_HUMAN	E	993	ENSP00000245907:D993E	ENSP00000245907:D993E	D	-	3	2	C3	6645617	0.000000	0.05858	0.176000	0.23000	0.197000	0.23852	-3.066000	0.00621	-2.395000	0.00582	-0.912000	0.02778	GAT	C3	-	NULL		0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	A	NM_000064		6694617	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	0.008	C
C3	718	genome.wustl.edu	37	19	6694622	6694622	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:6694622C>G	ENST00000245907.6	-	24	3066	c.2974G>C	c.(2974-2976)Gag>Cag	p.E992Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	992					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACGGCATCCTCTGTCATCTGG	0.632																																																	0													48.0	42.0	44.0					19																	6694622		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2974G>C	19.37:g.6694622C>G	ENSP00000245907:p.Glu992Gln		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,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.E992Q	ENST00000245907.6	37	c.2974	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162009	0.78226	.	.	ENSG00000125730	ENST00000245907	T	0.33865	1.39	5.77	5.77	0.91146	.	0.306476	0.35349	N	0.003272	T	0.66066	0.2752	M	0.88775	2.98	0.50313	D	0.999863	D	0.76494	0.999	D	0.79784	0.993	T	0.64334	-0.6432	10	0.22109	T	0.4	.	18.7735	0.91901	0.0:1.0:0.0:0.0	.	992	P01024	CO3_HUMAN	Q	992	ENSP00000245907:E992Q	ENSP00000245907:E992Q	E	-	1	0	C3	6645622	1.000000	0.71417	0.960000	0.40013	0.371000	0.29859	7.006000	0.76329	2.733000	0.93635	0.655000	0.94253	GAG	C3	-	NULL		0.632	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6694622	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	1.000	G
C6orf62	81688	genome.wustl.edu	37	6	24716531	24716531	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:24716531C>T	ENST00000378119.4	-	2	2318	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	C6orf62_ENST00000378102.3_Missense_Mutation_p.E22K|C6orf62_ENST00000540769.1_5'UTR	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	51						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TCAGACACTTCAAAAAGTGCT	0.373																																																	0													46.0	50.0	49.0					6																	24716531		2203	4300	6503	SO:0001583	missense	81688			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.151G>A	6.37:g.24716531C>T	ENSP00000367359:p.Glu51Lys		Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	NULL	p.E51K	ENST00000378119.4	37	c.151	CCDS4559.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.131395	0.97310	.	.	ENSG00000112308	ENST00000378119;ENST00000378102	T;T	0.39229	1.09;1.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	T	0.51498	-0.8698	10	0.87932	D	0	-13.9995	20.1133	0.97917	0.0:1.0:0.0:0.0	.	51	Q9GZU0	CF062_HUMAN	K	51;22	ENSP00000367359:E51K;ENSP00000367342:E22K	ENSP00000367342:E22K	E	-	1	0	C6orf62	24824510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.412000	0.80091	2.762000	0.94881	0.591000	0.81541	GAA	C6orf62	-	NULL		0.373	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf62	HGNC	protein_coding	OTTHUMT00000040017.1	C	NM_030939		24716531	-1	no_errors	ENST00000378119	ensembl	human	known	70_37	missense	SNP	1.000	T
C9orf3	84909	genome.wustl.edu	37	9	97767884	97767884	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:97767884G>A	ENST00000375315.2	+	12	2101	c.2101G>A	c.(2101-2103)Gag>Aag	p.E701K	C9orf3_ENST00000433691.2_Missense_Mutation_p.E42K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E63K|C9orf3_ENST00000297979.5_Missense_Mutation_p.E602K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	701					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E602Q(1)|p.E701Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGAGAAGGAAGAGGTGTTTGA	0.522																																																	2	Substitution - Missense(2)	urinary_tract(2)											111.0	116.0	114.0					9																	97767884		2203	4300	6503	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2101G>A	9.37:g.97767884G>A	ENSP00000364464:p.Glu701Lys		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.E701K	ENST00000375315.2	37	c.2101	CCDS55328.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.203|2.203	-0.382590|-0.382590	0.04966|0.04966	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000375316;ENST00000425634;ENST00000433691;ENST00000375314|ENST00000451893;ENST00000445181	T;T;T;T;T;T|.	0.40225|.	1.04;1.04;1.04;1.04;1.04;1.04|.	4.11|4.11	4.11|4.11	0.48088|0.48088	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);|.	1.077170|.	0.07181|.	N|.	0.854116|.	T|T	0.44095|0.44095	0.1277|0.1277	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;P;B;B;B;B|.	0.47484|.	0.049;0.896;0.275;0.001;0.13;0.033|.	B;P;B;B;B;B|.	0.46510|.	0.084;0.519;0.128;0.005;0.055;0.027|.	T|T	0.28138|0.28138	-1.0053|-1.0053	10|5	0.06891|.	T|.	0.86|.	-0.0059|-0.0059	9.7373|9.7373	0.40395|0.40395	0.1007:0.0:0.8993:0.0|0.1007:0.0:0.8993:0.0	.|.	42;63;120;701;602;602|.	B4DU39;B4DQU3;E9PF71;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;.;.;AMPO_HUMAN;.;.|.	K|K	602;701;425;483;120;63;42;65|100;65	ENSP00000297979:E602K;ENSP00000364464:E701K;ENSP00000402171:E425K;ENSP00000401854:E483K;ENSP00000411815:E63K;ENSP00000399365:E42K|.	ENSP00000297979:E602K|.	E|R	+|+	1|2	0|0	C9orf3|C9orf3	96807705|96807705	0.951000|0.951000	0.32395|0.32395	0.038000|0.038000	0.18304|0.18304	0.223000|0.223000	0.24884|0.24884	4.553000|4.553000	0.60753|0.60753	2.286000|2.286000	0.76751|0.76751	0.561000|0.561000	0.74099|0.74099	GAG|AGA	C9orf3	-	pfam_Peptidase_M1_C,superfamily_ARM-type_fold		0.522	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		G	NM_032823		97767884	+1	no_errors	ENST00000375315	ensembl	human	known	70_37	missense	SNP	0.051	A
CCDC180	100499483	genome.wustl.edu	37	9	100076947	100076947	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:100076947G>A	ENST00000357054.1	+	21	2120	c.1185G>A	c.(1183-1185)cgG>cgA	p.R395R	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Silent_p.R256R|CCDC180_ENST00000529487.1_Silent_p.R256R|CCDC180_ENST00000395220.1_Silent_p.R395R|CCDC180_ENST00000411667.2_Silent_p.R253R			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	395						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TACTGCTCCGGAAGCAGGAGA	0.602																																																	0													44.0	48.0	47.0					9																	100076947		2203	4300	6503	SO:0001819	synonymous_variant	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1185G>A	9.37:g.100076947G>A			Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	NULL	p.R256	ENST00000357054.1	37	c.768		9																																																																																			C9orf174	-	NULL		0.602	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100076947	+1	no_errors	ENST00000375202	ensembl	human	known	70_37	silent	SNP	0.468	A
C9orf91	203197	genome.wustl.edu	37	9	117379410	117379410	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:117379410G>C	ENST00000288502.4	+	0	372				AL160275.1_ENST00000606438.1_RNA|Y_RNA_ENST00000364879.1_RNA|C9orf91_ENST00000471206.1_3'UTR|C9orf91_ENST00000374049.4_5'UTR			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91							integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						ATATGATGCTGAGCTGGCTGC	0.582																																																	0																																										SO:0001623	5_prime_UTR_variant	203197			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.-66G>C	9.37:g.117379410G>C			A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	RNA	SNP	-	NULL	ENST00000288502.4	37	NULL	CCDS6808.1	9																																																																																			C9orf91	-	-		0.582	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C9orf91	HGNC	protein_coding	OTTHUMT00000053780.1	G	NM_153045		117379410	+1	no_errors	ENST00000471206	ensembl	human	known	70_37	rna	SNP	0.006	C
CACNA1B	774	genome.wustl.edu	37	9	140946583	140946583	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:140946583G>C	ENST00000371372.1	+	25	3895	c.3750G>C	c.(3748-3750)ctG>ctC	p.L1250L	CACNA1B_ENST00000277549.5_Silent_p.L446L|CACNA1B_ENST00000277551.2_Silent_p.L1250L|CACNA1B_ENST00000371355.4_Silent_p.L1251L|CACNA1B_ENST00000371363.1_Silent_p.L1250L|CACNA1B_ENST00000371357.1_Silent_p.L1251L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1250					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAAGTCTCTGAGAGTCCTTC	0.562																																																	0													57.0	62.0	60.0					9																	140946583		2024	4188	6212	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3750G>C	9.37:g.140946583G>C			B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.L1251	ENST00000371372.1	37	c.3753	CCDS59522.1	9																																																																																			CACNA1B	-	pfam_Ion_trans_dom		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140946583	+1	no_errors	ENST00000371355	ensembl	human	known	70_37	silent	SNP	1.000	C
CACNA1S	779	genome.wustl.edu	37	1	201016290	201016290	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:201016290C>G	ENST00000362061.3	-	38	4847	c.4621G>C	c.(4621-4623)Gag>Cag	p.E1541Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1522Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1541					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAATACTCCTCTTGGCGTTTC	0.527																																																	0													174.0	162.0	166.0					1																	201016290		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4621G>C	1.37:g.201016290C>G	ENSP00000355192:p.Glu1541Gln		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.E1541Q	ENST00000362061.3	37	c.4621	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	24.5	4.541182	0.85917	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.66815	-0.23;-0.23	5.17	4.26	0.50523	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.324649	0.36703	N	0.002445	T	0.77412	0.4126	L	0.56340	1.77	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	T	0.78804	-0.2060	10	0.56958	D	0.05	.	13.9776	0.64282	0.0:0.9262:0.0:0.0738	.	1541	Q13698	CAC1S_HUMAN	Q	1541;1522	ENSP00000355192:E1541Q;ENSP00000356307:E1522Q	ENSP00000355192:E1541Q	E	-	1	0	CACNA1S	199282913	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.439000	0.80444	1.314000	0.45095	0.655000	0.94253	GAG	CACNA1S	-	pfam_VDCC_a1su_IQ		0.527	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	C	NM_000069		201016290	-1	no_errors	ENST00000362061	ensembl	human	known	70_37	missense	SNP	1.000	G
CACNB2	783	genome.wustl.edu	37	10	18439857	18439857	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:18439857G>A	ENST00000324631.7	+	2	226	c.166G>A	c.(166-168)Gat>Aat	p.D56N	CACNB2_ENST00000352115.6_Missense_Mutation_p.D56N|CACNB2_ENST00000282343.8_Missense_Mutation_p.D28N|CACNB2_ENST00000377331.2_Missense_Mutation_p.D28N|CACNB2_ENST00000377328.1_Missense_Mutation_p.D56N|CACNB2_ENST00000467034.1_3'UTR	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	56				D -> N (in Ref. 4; AAQ97608). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAAAGGATCTGATGGAAGCAC	0.299																																																	0													141.0	146.0	144.0					10																	18439857		2203	4299	6502	SO:0001583	missense	783			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.166G>A	10.37:g.18439857G>A	ENSP00000320025:p.Asp56Asn		A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su	p.D56N	ENST00000324631.7	37	c.166	CCDS7125.1	10	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146410	0.77888	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331	D;T;D;D;D	0.85171	-1.9;1.98;-1.95;-1.86;-1.85	5.93	5.93	0.95920	.	0.460481	0.23879	N	0.043664	D	0.89280	0.6670	L	0.34521	1.04	0.80722	D	1	B;D;P;B;D;D;B	0.89917	0.0;1.0;0.791;0.001;0.998;0.998;0.0	B;D;B;B;D;D;B	0.83275	0.001;0.996;0.107;0.002;0.995;0.995;0.001	D	0.89195	0.3553	10	0.56958	D	0.05	-5.8237	19.1254	0.93380	0.0:0.0:1.0:0.0	.	28;56;28;28;56;56;56	Q5QJA0;A6PVM6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;CACB2_HUMAN	N	56;56;56;28;28	ENSP00000320025:D56N;ENSP00000344474:D56N;ENSP00000366545:D56N;ENSP00000282343:D28N;ENSP00000366548:D28N	ENSP00000282343:D28N	D	+	1	0	CACNB2	18479863	1.000000	0.71417	0.969000	0.41365	0.955000	0.61496	8.365000	0.90108	2.826000	0.97356	0.655000	0.94253	GAT	CACNB2	-	NULL		0.299	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB2	HGNC	protein_coding	OTTHUMT00000047072.2	G	NM_000724		18439857	+1	no_errors	ENST00000324631	ensembl	human	known	70_37	missense	SNP	0.999	A
CALCB	797	genome.wustl.edu	37	11	15098849	15098849	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:15098849G>C	ENST00000533448.1	+	4	353	c.242G>C	c.(241-243)aGa>aCa	p.R81T	CALCB_ENST00000324229.6_Missense_Mutation_p.R81T|CALCB_ENST00000523376.1_Missense_Mutation_p.R92T			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	81					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GCCCAGAAGAGAGCCTGCAAC	0.542																																																	0													54.0	53.0	53.0					11																	15098849		2200	4294	6494	SO:0001583	missense	797				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.242G>C	11.37:g.15098849G>C	ENSP00000433490:p.Arg81Thr		A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Procalcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.R81T	ENST00000533448.1	37	c.242	CCDS7820.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667123	0.88251	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.26373	1.74;1.74;1.74	4.87	4.87	0.63330	Calcitonin peptide-like (1);	0.116233	0.39834	N	0.001258	T	0.61464	0.2349	M	0.91140	3.18	0.41493	D	0.988238	D	0.89917	1.0	D	0.87578	0.998	T	0.72821	-0.4177	10	0.87932	D	0	-8.4969	18.3705	0.90405	0.0:0.0:1.0:0.0	.	81	P10092	CALCB_HUMAN	T	92;81;81	ENSP00000428882:R92T;ENSP00000346017:R81T;ENSP00000433490:R81T	ENSP00000346017:R81T	R	+	2	0	CALCB	15055425	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.406000	0.97321	2.390000	0.81377	0.462000	0.41574	AGA	CALCB	-	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep		0.542	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	HGNC	protein_coding	OTTHUMT00000387433.1	G	NM_000728		15098849	+1	no_errors	ENST00000324229	ensembl	human	known	70_37	missense	SNP	1.000	C
CADM1	23705	genome.wustl.edu	37	11	115088689	115088689	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:115088689C>G	ENST00000452722.3	-	6	764	c.744G>C	c.(742-744)caG>caC	p.Q248H	CADM1_ENST00000537058.1_Missense_Mutation_p.Q248H|CADM1_ENST00000536727.1_Missense_Mutation_p.Q248H|CADM1_ENST00000331581.6_Missense_Mutation_p.Q248H|CADM1_ENST00000542447.2_Missense_Mutation_p.Q248H|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GATAAGTCATCTGAATGTGCA	0.443																																																	0													139.0	118.0	125.0					11																	115088689		2201	4296	6497	SO:0001583	missense	23705			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.744G>C	11.37:g.115088689C>G	ENSP00000395359:p.Gln248His			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.Q248H	ENST00000452722.3	37	c.744	CCDS8373.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.79|12.79	2.043709|2.043709	0.36085|0.36085	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000542450	.|T;T;T;T;T;D	.|0.85556	.|2.4;2.4;2.4;2.4;2.4;-2.0	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Immunoglobulin-like (1);	.|0.366587	.|0.28338	.|N	.|0.015720	T|T	0.80336|0.80336	0.4604|0.4604	N|N	0.05351|0.05351	-0.065|-0.065	0.31306|0.31306	N|N	0.687765|0.687765	.|D;D;D;B;P	.|0.54601	.|0.959;0.959;0.967;0.006;0.898	.|P;P;P;B;B	.|0.53954	.|0.62;0.62;0.738;0.017;0.377	T|T	0.81152|0.81152	-0.1063|-0.1063	5|10	.|0.45353	.|T	.|0.12	.|.	14.173|14.173	0.65522|0.65522	0.1585:0.8415:0.0:0.0|0.1585:0.8415:0.0:0.0	.|.	.|248;248;249;248;248	.|Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;.;CADM1_HUMAN;.	H|H	247|248;248;248;248;207;248;101	.|ENSP00000439176:Q248H;ENSP00000395359:Q248H;ENSP00000439817:Q248H;ENSP00000440322:Q248H;ENSP00000329797:Q248H;ENSP00000442001:Q101H	.|ENSP00000329797:Q248H	D|Q	-|-	1|3	0|2	CADM1|CADM1	114593899|114593899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.788000|1.788000	0.38714|0.38714	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	GAT|CAG	CADM1	-	pfscan_Ig-like		0.443	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CADM1	HGNC	protein_coding	OTTHUMT00000398753.2	C	NM_014333		115088689	-1	no_errors	ENST00000452722	ensembl	human	known	70_37	missense	SNP	1.000	G
CAMK2B	816	genome.wustl.edu	37	7	44259838	44259838	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:44259838G>A	ENST00000395749.2	-	23	1900	c.1824C>T	c.(1822-1824)caC>caT	p.H608H	CAMK2B_ENST00000346990.4_Silent_p.H391H|CAMK2B_ENST00000440254.2_Silent_p.H484H|CAMK2B_ENST00000347193.4_Silent_p.H434H|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000353625.4_Silent_p.H421H|CAMK2B_ENST00000457475.1_Silent_p.H460H|CAMK2B_ENST00000358707.3_Silent_p.H445H|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000258682.6_Silent_p.H459H|CAMK2B_ENST00000395747.2_Silent_p.H460H|CAMK2B_ENST00000350811.3_Silent_p.H484H	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	608					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CTCCAATGACGTGCACGTGTG	0.647																																																	0													118.0	68.0	85.0					7																	44259838		2203	4300	6503	SO:0001819	synonymous_variant	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1824C>T	7.37:g.44259838G>A			A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H608	ENST00000395749.2	37	c.1824	CCDS5483.1	7																																																																																			CAMK2B	-	pfam_Ca/CaM-dep_prot_kinase-assoc		0.647	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	G	NM_172084		44259838	-1	no_errors	ENST00000395749	ensembl	human	known	70_37	silent	SNP	1.000	A
CAMKK2	10645	genome.wustl.edu	37	12	121682976	121682976	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:121682976T>C	ENST00000324774.5	-	15	2348	c.1520A>G	c.(1519-1521)gAa>gGa	p.E507G	CAMKK2_ENST00000545538.1_Missense_Mutation_p.E294G|CAMKK2_ENST00000347034.2_Missense_Mutation_p.E464G|CAMKK2_ENST00000402834.4_Missense_Mutation_p.E507G|CAMKK2_ENST00000404169.3_Missense_Mutation_p.E507G|CAMKK2_ENST00000446440.2_Missense_Mutation_p.E464G|CAMKK2_ENST00000392474.2_Missense_Mutation_p.E507G|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E507G|CAMKK2_ENST00000538733.1_Missense_Mutation_p.E464G|CAMKK2_ENST00000392473.2_Missense_Mutation_p.E507G|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E507G	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	507					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGTGAGCGTTCCTCCCGCCG	0.612																																																	0													67.0	54.0	59.0					12																	121682976		2203	4300	6503	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1520A>G	12.37:g.121682976T>C	ENSP00000312741:p.Glu507Gly		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E507G	ENST00000324774.5	37	c.1520	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464852	0.43839	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	4.93	4.93	0.64822	.	0.058200	0.64402	D	0.000002	T	0.39600	0.1084	L	0.38175	1.15	0.58432	D	0.999993	B;B;B;B;B;B;B;B	0.14438	0.01;0.002;0.002;0.003;0.009;0.007;0.002;0.002	B;B;B;B;B;B;B;B	0.23275	0.045;0.013;0.013;0.005;0.03;0.02;0.006;0.008	T	0.19128	-1.0315	10	0.32370	T	0.25	17.421	13.7521	0.62915	0.0:0.0:0.0:1.0	.	464;507;507;294;464;464;507;507	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	G	507;464;464;507;507;294;507;507;490;464;507	ENSP00000376266:E507G;ENSP00000321230:E464G;ENSP00000445944:E464G;ENSP00000336634:E507G;ENSP00000312741:E507G;ENSP00000441352:E294G;ENSP00000388368:E507G;ENSP00000384600:E507G;ENSP00000388273:E464G;ENSP00000376265:E507G	ENSP00000312741:E507G	E	-	2	0	CAMKK2	120167359	1.000000	0.71417	0.998000	0.56505	0.411000	0.31082	4.756000	0.62205	1.856000	0.53863	0.459000	0.35465	GAA	CAMKK2	-	NULL		0.612	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	T	NM_172226		121682976	-1	no_errors	ENST00000324774	ensembl	human	known	70_37	missense	SNP	1.000	C
CAMTA1	23261	genome.wustl.edu	37	1	7798111	7798111	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:7798111G>A	ENST00000303635.7	+	16	3958	c.3751G>A	c.(3751-3753)Gag>Aag	p.E1251K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E1251K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATTGAACCCTGAGTACTTCCA	0.478			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													77.0	76.0	76.0					1																	7798111		2203	4300	6503	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3751G>A	1.37:g.7798111G>A	ENSP00000306522:p.Glu1251Lys		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.E1251K	ENST00000303635.7	37	c.3751	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953171	0.92660	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.25579	1.84;1.79	5.17	5.17	0.71159	.	0.105788	0.64402	D	0.000005	T	0.46908	0.1417	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.69078	0.995;0.997;0.997;0.997	D;D;D;D	0.73380	0.91;0.98;0.98;0.98	T	0.36480	-0.9746	10	0.49607	T	0.09	-9.0503	18.6791	0.91540	0.0:0.0:1.0:0.0	.	1251;338;207;1251	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	K	1251;1251;338;207	ENSP00000306522:E1251K;ENSP00000402561:E1251K	ENSP00000306522:E1251K	E	+	1	0	CAMTA1	7720698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.173000	0.94815	2.398000	0.81561	0.655000	0.94253	GAG	CAMTA1	-	NULL		0.478	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7798111	+1	no_errors	ENST00000303635	ensembl	human	known	70_37	missense	SNP	1.000	A
CAPN1	823	genome.wustl.edu	37	11	64950385	64950385	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:64950385G>A	ENST00000527323.1	+	1	453	c.213G>A	c.(211-213)aaG>aaA	p.K71K	CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000533820.1_Silent_p.K71K|CAPN1_ENST00000279247.6_Silent_p.K71K|CAPN1_ENST00000524773.1_Silent_p.K71K|CAPN1_ENST00000533129.1_Silent_p.K71K|AP003068.23_ENST00000526623.1_5'Flank			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	71	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TGGGTTACAAGGACCTGGGTC	0.622																																																	0													38.0	44.0	42.0					11																	64950385		2016	4175	6191	SO:0001819	synonymous_variant	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.213G>A	11.37:g.64950385G>A			Q2TTR0|Q6DHV4	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.K71	ENST00000527323.1	37	c.213	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	G	8.891	0.953941	0.18431	.	.	ENSG00000014216	ENST00000259755	.	.	.	5.13	4.22	0.49857	.	.	.	.	.	T	0.60508	0.2274	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56968	-0.7891	5	0.31617	T	0.26	.	11.2186	0.48842	0.0896:0.0:0.9104:0.0	.	.	.	.	K	41	.	ENSP00000259755:R41K	R	+	2	0	CAPN1	64706961	0.810000	0.29049	0.998000	0.56505	0.760000	0.43138	-0.250000	0.08830	1.169000	0.42739	0.561000	0.74099	AGG	CAPN1	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.622	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	G			64950385	+1	no_errors	ENST00000279247	ensembl	human	known	70_37	silent	SNP	1.000	A
CASKIN2	57513	genome.wustl.edu	37	17	73499965	73499965	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:73499965C>T	ENST00000321617.3	-	15	2132	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	CASKIN2_ENST00000433559.2_Missense_Mutation_p.D434N	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	516	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	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)			GTAGGCACATCATAGCCGGCC	0.682																																																	0													38.0	32.0	34.0					17																	73499965		2203	4300	6503	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1546G>A	17.37:g.73499965C>T	ENSP00000325355:p.Asp516Asn		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.D516N	ENST00000321617.3	37	c.1546	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.137052	0.94517	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.57595	0.39;0.39	4.43	4.43	0.53597	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.45126	D	0.000384	T	0.77130	0.4085	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82633	-0.0361	10	0.66056	D	0.02	.	17.3036	0.87189	0.0:1.0:0.0:0.0	.	516	Q8WXE0	CSKI2_HUMAN	N	516;434	ENSP00000325355:D516N;ENSP00000406963:D434N	ENSP00000325355:D516N	D	-	1	0	CASKIN2	71011560	1.000000	0.71417	0.348000	0.25681	0.972000	0.66771	7.556000	0.82233	2.306000	0.77630	0.650000	0.86243	GAT	CASKIN2	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.682	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	C	NM_020753		73499965	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	missense	SNP	0.998	T
CATSPER2P1	440278	genome.wustl.edu	37	15	44028625	44028625	+	RNA	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:44028625C>G	ENST00000381680.2	-	0	1159				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		GAATAGCATTCTCTGAGAAGT	0.373																																																	0																																												440278			BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44028625C>G				RNA	SNP	-	NULL	ENST00000381680.2	37	NULL		15																																																																																			CATSPER2P1	-	-		0.373	CATSPER2P1-002	KNOWN	basic	processed_transcript	CATSPER2P1	HGNC	pseudogene	OTTHUMT00000133242.1	C	NR_002318		44028625	-1	no_errors	ENST00000381680	ensembl	human	known	70_37	rna	SNP	0.000	G
CATSPERB	79820	genome.wustl.edu	37	14	92126271	92126271	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:92126271C>T	ENST00000256343.3	-	15	1498	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	448					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATGATATCATCATGAAAGTTA	0.343																																																	0													79.0	80.0	80.0					14																	92126271		2203	4299	6502	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1342G>A	14.37:g.92126271C>T	ENSP00000256343:p.Asp448Asn		A0AV51	Missense_Mutation	SNP	superfamily_Neuraminidase	p.D448N	ENST00000256343.3	37	c.1342	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	C	0	-2.583325	0.00129	.	.	ENSG00000133962	ENST00000256343	T	0.48201	0.82	4.58	1.68	0.24146	.	2.055120	0.02314	N	0.072406	T	0.31857	0.0810	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.15235	-1.0444	10	0.21014	T	0.42	0.209	7.1917	0.25828	0.0:0.6795:0.1425:0.178	.	448	Q9H7T0	CTSRB_HUMAN	N	448	ENSP00000256343:D448N	ENSP00000256343:D448N	D	-	1	0	CATSPERB	91196024	0.000000	0.05858	0.003000	0.11579	0.070000	0.16714	-0.365000	0.07573	-0.107000	0.12088	-1.164000	0.01763	GAT	CATSPERB	-	superfamily_Neuraminidase		0.343	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	C	NM_024764		92126271	-1	no_errors	ENST00000256343	ensembl	human	known	70_37	missense	SNP	0.000	T
CBFA2T3	863	genome.wustl.edu	37	16	88949138	88949138	+	Silent	SNP	G	G	T	rs532605585	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:88949138G>T	ENST00000268679.4	-	8	1545	c.1149C>A	c.(1147-1149)atC>atA	p.I383I	RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Silent_p.I307I|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Silent_p.I345I|CBFA2T3_ENST00000360302.2_Silent_p.I297I|CBFA2T3_ENST00000327483.5_Silent_p.I297I|RP11-830F9.5_ENST00000565053.1_RNA|RP11-830F9.5_ENST00000562405.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	383	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCTTGTGGTCGATCACTTCTT	0.622			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	0													201.0	115.0	144.0					16																	88949138		2192	4289	6481	SO:0001819	synonymous_variant	863			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1149C>A	16.37:g.88949138G>T			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.I383	ENST00000268679.4	37	c.1149	CCDS10972.1	16																																																																																			CBFA2T3	-	pfam_NHR2		0.622	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	G	NM_005187		88949138	-1	no_errors	ENST00000268679	ensembl	human	known	70_37	silent	SNP	0.140	T
CCAR1	55749	genome.wustl.edu	37	10	70531119	70531119	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:70531119G>A	ENST00000265872.6	+	18	2574	c.2455G>A	c.(2455-2457)Gat>Aat	p.D819N	CCAR1_ENST00000543719.1_Missense_Mutation_p.D804N|CCAR1_ENST00000535016.1_Missense_Mutation_p.D804N	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	819	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						agaagaaagagatgatgaaac	0.313																																																	0													56.0	55.0	55.0					10																	70531119		2203	4298	6501	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2455G>A	10.37:g.70531119G>A	ENSP00000265872:p.Asp819Asn		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.D819N	ENST00000265872.6	37	c.2455	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233490	0.79688	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000536012	T;T;T;T;T	0.24151	1.87;1.88;1.88;1.88;1.98	5.78	5.78	0.91487	.	0.246093	0.40554	N	0.001075	T	0.22399	0.0540	N	0.19112	0.55	0.53005	D	0.999961	P;P	0.46987	0.827;0.888	B;P	0.44561	0.418;0.453	T	0.01834	-1.1264	10	0.18276	T	0.48	-13.9535	19.676	0.95934	0.0:0.0:1.0:0.0	.	804;819	Q8IX12-2;Q8IX12	.;CCAR1_HUMAN	N	819;804;804;804;624	ENSP00000265872:D819N;ENSP00000441820:D804N;ENSP00000445254:D804N;ENSP00000439252:D804N;ENSP00000439642:D624N	ENSP00000265872:D819N	D	+	1	0	CCAR1	70201125	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.954000	0.87848	2.739000	0.93911	0.558000	0.71614	GAT	CCAR1	-	NULL		0.313	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	G	NM_018237		70531119	+1	no_errors	ENST00000265872	ensembl	human	known	70_37	missense	SNP	1.000	A
CCAR1	55749	genome.wustl.edu	37	10	70531125	70531125	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:70531125G>A	ENST00000265872.6	+	18	2580	c.2461G>A	c.(2461-2463)Gaa>Aaa	p.E821K	CCAR1_ENST00000543719.1_Missense_Mutation_p.E806K|CCAR1_ENST00000535016.1_Missense_Mutation_p.E806K	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	821	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						aagagatgatgaaactgatga	0.323																																																	0													57.0	56.0	56.0					10																	70531125		2201	4295	6496	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2461G>A	10.37:g.70531125G>A	ENSP00000265872:p.Glu821Lys		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.E821K	ENST00000265872.6	37	c.2461	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186687	0.57909	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000536012	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.94;1.94	5.78	5.78	0.91487	.	0.168534	0.51477	D	0.000087	T	0.15998	0.0385	N	0.19112	0.55	0.52501	D	0.999958	P;P	0.43750	0.728;0.816	B;B	0.36464	0.156;0.225	T	0.05241	-1.0897	10	0.06365	T	0.9	-14.6011	19.676	0.95934	0.0:0.0:1.0:0.0	.	806;821	Q8IX12-2;Q8IX12	.;CCAR1_HUMAN	K	821;806;806;806;626	ENSP00000265872:E821K;ENSP00000441820:E806K;ENSP00000445254:E806K;ENSP00000439252:E806K;ENSP00000439642:E626K	ENSP00000265872:E821K	E	+	1	0	CCAR1	70201131	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.828000	0.99408	2.739000	0.93911	0.558000	0.71614	GAA	CCAR1	-	NULL		0.323	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	G	NM_018237		70531125	+1	no_errors	ENST00000265872	ensembl	human	known	70_37	missense	SNP	1.000	A
CFAP36	112942	genome.wustl.edu	37	2	55762944	55762944	+	Intron	SNP	C	C	T	rs549225092		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:55762944C>T	ENST00000349456.4	+	6	685				CCDC104_ENST00000407816.3_Intron|CCDC104_ENST00000406691.3_Intron|CCDC104_ENST00000403007.3_Silent_p.L194L|CCDC104_ENST00000339012.3_Intron|CCDC104_ENST00000490934.1_Intron			Q96G28	CFA36_HUMAN												breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTGTTATCTCTTATTAAGTT	0.269													C|||	1	0.000199681	0.0	0.0	5008	,	,		15036	0.0		0.0	False		,,,				2504	0.001																0													58.0	67.0	64.0					2																	55762944		2195	4292	6487	SO:0001627	intron_variant	112942																														ENST00000349456.4:c.537+45C>T	2.37:g.55762944C>T			Q53SF0|Q53ST9|Q6UY34	Silent	SNP	pfam_ARF-like_2-bdp_dom	p.L194	ENST00000349456.4	37	c.582	CCDS1854.2	2																																																																																			CCDC104	-	NULL		0.269	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC104	HGNC	protein_coding	OTTHUMT00000319610.2	C			55762944	+1	no_errors	ENST00000403007	ensembl	human	putative	70_37	silent	SNP	0.009	T
CCDC159	126075	genome.wustl.edu	37	19	11464470	11464470	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:11464470C>G	ENST00000588790.1	+	11	1139	c.692C>G	c.(691-693)tCt>tGt	p.S231C	DKFZP761J1410_ENST00000251473.5_5'Flank|DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.S231C			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	346										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						TCTTGCAGGTCTGCTGTGCAC	0.602																																																	0													20.0	21.0	20.0					19																	11464470		1968	4152	6120	SO:0001583	missense	126075			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.692C>G	19.37:g.11464470C>G	ENSP00000468232:p.Ser231Cys		B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	NULL	p.S231C	ENST00000588790.1	37	c.692	CCDS45976.1	19	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716157	0.68844	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.51574	0.7	4.03	2.95	0.34219	.	.	.	.	.	T	0.59335	0.2186	L	0.53249	1.67	0.26777	N	0.969686	D;B	0.76494	0.999;0.019	D;B	0.65874	0.939;0.022	T	0.48387	-0.9040	9	0.72032	D	0.01	-6.0516	9.6032	0.39617	0.0:0.7868:0.2132:0.0	.	346;231	P0C7I6;P0C7I6-2	CC159_HUMAN;.	C	231;346	ENSP00000402239:S231C	ENSP00000390400:S346C	S	+	2	0	CCDC159	11325470	0.957000	0.32711	0.953000	0.39169	0.371000	0.29859	1.917000	0.39996	1.235000	0.43724	0.313000	0.20887	TCT	CCDC159	-	NULL		0.602	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC159	HGNC	protein_coding	OTTHUMT00000458761.1	C	NM_001080503		11464470	+1	no_errors	ENST00000458408	ensembl	human	known	70_37	missense	SNP	0.987	G
CCDC168	643677	genome.wustl.edu	37	13	103386923	103386924	+	Frame_Shift_Ins	INS	-	-	T	rs61389599		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:103386923_103386924insT	ENST00000322527.2	-	1	2235_2236	c.2236_2237insA	c.(2236-2238)atafs	p.I746fs		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	746																	CATATCGATTATTTTTTTTTGG	0.396																																																	0										18,2042		3,12,1015						-2.5	0.0		dbSNP_129	225	13,4015		2,9,2003	no	frameshift	CCDC168	NM_001146197.1		5,21,3018	A1A1,A1R,RR		0.3227,0.8738,0.5092				31,6057				SO:0001589	frameshift_variant	643677				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.2237dupA	13.37:g.103386932_103386932dupT	ENSP00000320232:p.Ile746fs		Q8N800	Frame_Shift_Ins	INS	NULL	p.I746fs	ENST00000322527.2	37	c.2237_2236		13																																																																																			CCDC168	-	NULL		0.396	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		-	NM_001146197		103386924	-1	no_errors	ENST00000322527	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.005	T
CCDC18	343099	genome.wustl.edu	37	1	93672937	93672937	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:93672937G>T	ENST00000343253.7	+	9	1693	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	CCDC18_ENST00000338949.4_Missense_Mutation_p.K196N|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.K397N|CCDC18_ENST00000557479.1_Missense_Mutation_p.K515N			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	397										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GTTTGGAAAAGATTATATCCC	0.343																																																	0													75.0	72.0	73.0					1																	93672937		1824	4072	5896	SO:0001583	missense	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1191G>T	1.37:g.93672937G>T	ENSP00000343377:p.Lys397Asn		Q6ZU17	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K515N	ENST00000343253.7	37	c.1545		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.47|11.47	1.649086|1.649086	0.29336|0.29336	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T;T;T;T|.	0.20200|.	2.09;2.09;2.09;2.09;2.09|.	5.73|5.73	0.676|0.676	0.17958|0.17958	.|.	0.390349|.	0.28371|.	N|.	0.015587|.	T|T	0.25754|0.25754	0.0627|0.0627	L|L	0.44542|0.44542	1.39|1.39	0.42996|0.42996	D|D	0.994504|0.994504	B;B|.	0.21147|.	0.003;0.052|.	B;B|.	0.14578|.	0.005;0.011|.	T|T	0.18335|0.18335	-1.0340|-1.0340	10|5	0.18710|.	T|.	0.47|.	.|.	1.7228|1.7228	0.02915|0.02915	0.4012:0.1512:0.318:0.1296|0.4012:0.1512:0.318:0.1296	.|.	397;515|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	N|I	397;397;515;196;117|451	ENSP00000343377:K397N;ENSP00000383808:K397N;ENSP00000451099:K515N;ENSP00000344380:K196N;ENSP00000391151:K117N|.	ENSP00000344380:K196N|.	K|R	+|+	3|2	2|0	CCDC18|CCDC18	93445525|93445525	0.210000|0.210000	0.23517|0.23517	0.994000|0.994000	0.49952|0.49952	0.658000|0.658000	0.38924|0.38924	0.067000|0.067000	0.14510|0.14510	0.122000|0.122000	0.18314|0.18314	-0.474000|-0.474000	0.04947|0.04947	AAG|AGA	CCDC18	-	NULL		0.343	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	G	NM_206886		93672937	+1	no_errors	ENST00000557479	ensembl	human	known	70_37	missense	SNP	0.669	T
CFAP45	25790	genome.wustl.edu	37	1	159857691	159857691	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:159857691G>A	ENST00000368099.4	-	5	592	c.528C>T	c.(526-528)ctC>ctT	p.L176L	CCDC19_ENST00000426543.2_Silent_p.L91L|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTCTCTGCAGGAGGTTCTGGG	0.547																																																	0													244.0	215.0	225.0					1																	159857691		2203	4300	6503	SO:0001819	synonymous_variant	25790																														ENST00000368099.4:c.528C>T	1.37:g.159857691G>A				Silent	SNP	NULL	p.L176	ENST00000368099.4	37	c.528	CCDS30914.1	1																																																																																			CCDC19	-	NULL		0.547	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	HGNC	protein_coding	OTTHUMT00000085979.1	G			159857691	-1	no_errors	ENST00000368099	ensembl	human	known	70_37	silent	SNP	0.970	A
CCDC66	285331	genome.wustl.edu	37	3	56627714	56627714	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:56627714G>A	ENST00000394672.3	+	9	1334	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	CCDC66_ENST00000436465.2_Missense_Mutation_p.E422K|CCDC66_ENST00000326595.7_Missense_Mutation_p.E388K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	422					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TTCAGAGGAGGAGCATATAGC	0.423																																																	0													99.0	90.0	93.0					3																	56627714		2203	4300	6503	SO:0001583	missense	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1264G>A	3.37:g.56627714G>A	ENSP00000378167:p.Glu422Lys		B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	NULL	p.E422K	ENST00000394672.3	37	c.1264	CCDS46852.1	3	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777864	0.49786	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.65	3.84	0.44239	.	0.347756	0.32868	N	0.005547	T	0.45256	0.1333	M	0.70595	2.14	0.24936	N	0.991888	B	0.27351	0.176	B	0.21917	0.037	T	0.47824	-0.9087	10	0.56958	D	0.05	-9.6909	10.8134	0.46559	0.1496:0.0:0.8504:0.0	.	422	A2RUB6	CCD66_HUMAN	K	378;422;388;422	ENSP00000401451:E378K;ENSP00000378167:E422K;ENSP00000326050:E388K;ENSP00000404320:E422K	ENSP00000326050:E388K	E	+	1	0	CCDC66	56602754	0.995000	0.38212	0.148000	0.22405	0.541000	0.35023	4.214000	0.58527	1.632000	0.50472	0.655000	0.94253	GAG	CCDC66	-	NULL		0.423	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	HGNC	protein_coding	OTTHUMT00000341473.1	G	NM_001012506		56627714	+1	no_errors	ENST00000394672	ensembl	human	known	70_37	missense	SNP	0.038	A
CCDC88B	283234	genome.wustl.edu	37	11	64119016	64119016	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:64119016G>C	ENST00000356786.5	+	18	3071	c.3027G>C	c.(3025-3027)ggG>ggC	p.G1009G	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.G161G	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1009						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCAGCTGGGGAGCCTGCAGG	0.687																																																	0													8.0	9.0	9.0					11																	64119016		2170	4261	6431	SO:0001819	synonymous_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3027G>C	11.37:g.64119016G>C			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	pfam_HOOK	p.G1009	ENST00000356786.5	37	c.3027	CCDS8072.2	11																																																																																			CCDC88B	-	NULL		0.687	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	G	NM_032251		64119016	+1	no_errors	ENST00000356786	ensembl	human	known	70_37	silent	SNP	0.723	C
CCNF	899	genome.wustl.edu	37	16	2487306	2487306	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:2487306G>C	ENST00000397066.4	+	5	611	c.523G>C	c.(523-525)Gag>Cag	p.E175Q		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	175					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CCTCAGGGCAGAGTGCCAGCT	0.652																																																	0													32.0	30.0	31.0					16																	2487306		2198	4299	6497	SO:0001583	missense	899			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.523G>C	16.37:g.2487306G>C	ENSP00000380256:p.Glu175Gln		B2R8H3|Q96EG9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like	p.E175Q	ENST00000397066.4	37	c.523	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534354	0.85812	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.25749	1.78	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	L	0.57536	1.79	0.80722	D	1	P	0.40834	0.73	B	0.41894	0.369	T	0.02868	-1.1100	10	0.42905	T	0.14	-33.781	18.3739	0.90428	0.0:0.0:1.0:0.0	.	175	P41002	CCNF_HUMAN	Q	175;90	ENSP00000380256:E175Q	ENSP00000293968:E90Q	E	+	1	0	CCNF	2427307	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	7.652000	0.83633	2.689000	0.91719	0.655000	0.94253	GAG	CCNF	-	NULL		0.652	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	G	NM_001761		2487306	+1	no_errors	ENST00000397066	ensembl	human	known	70_37	missense	SNP	1.000	C
CCNG2	901	genome.wustl.edu	37	4	78082672	78082672	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:78082672G>A	ENST00000316355.5	+	5	923	c.567G>A	c.(565-567)ctG>ctA	p.L189L	CCNG2_ENST00000509972.1_Silent_p.L189L|CCNG2_ENST00000395640.1_Silent_p.L189L|CCNG2_ENST00000354403.5_Silent_p.L189L|CCNG2_ENST00000502280.1_Silent_p.L189L|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	189					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AAGCTCAGCTGAAAGCTTGCA	0.294																																																	0													51.0	58.0	56.0					4																	78082672		2203	4300	6503	SO:0001819	synonymous_variant	901			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.567G>A	4.37:g.78082672G>A			B4DF25|Q6FGA7|Q6FGC6	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.L189	ENST00000316355.5	37	c.567	CCDS3581.1	4																																																																																			CCNG2	-	NULL		0.294	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNG2	HGNC	protein_coding	OTTHUMT00000252404.3	G	NM_004354		78082672	+1	no_errors	ENST00000316355	ensembl	human	known	70_37	silent	SNP	0.998	A
CCR3	1232	genome.wustl.edu	37	3	46306660	46306660	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:46306660C>T	ENST00000357422.2	+	4	554	c.11C>T	c.(10-12)tCa>tTa	p.S4L	CCR3_ENST00000541018.1_Missense_Mutation_p.S4L|CCR3_ENST00000395940.2_Missense_Mutation_p.S4L|CCR3_ENST00000545097.1_Missense_Mutation_p.S25L|CCR3_ENST00000395942.2_Missense_Mutation_p.S4L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	4					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ATGACAACCTCACTAGATACA	0.418																																																	0													99.0	95.0	97.0					3																	46306660		2203	4300	6503	SO:0001583	missense	1232			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.11C>T	3.37:g.46306660C>T	ENSP00000350003:p.Ser4Leu		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1,prints_P2_purnocptor	p.S25L	ENST00000357422.2	37	c.74	CCDS2738.1	3	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301044	0.40694	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000452454;ENST00000457243;ENST00000395942	T;T;T;T;T;T;T	0.72942	-0.28;-0.27;-0.28;-0.28;2.53;-0.7;-0.28	5.52	1.48	0.22813	.	7739.210000	0.00166	N	0.000000	T	0.52108	0.1714	N	0.08118	0	0.09310	N	1	B;B;B;B	0.20550	0.046;0.007;0.013;0.013	B;B;B;B	0.14578	0.011;0.008;0.01;0.007	T	0.47711	-0.9096	10	0.72032	D	0.01	.	5.0865	0.14684	0.3509:0.4519:0.0:0.1972	.	4;4;25;4	Q8TDP5;Q8TDP6;F5GWL6;P51677	.;.;.;CCR3_HUMAN	L	4;25;4;4;4;4;4	ENSP00000350003:S4L;ENSP00000441600:S25L;ENSP00000440097:S4L;ENSP00000379271:S4L;ENSP00000389336:S4L;ENSP00000401822:S4L;ENSP00000379273:S4L	ENSP00000350003:S4L	S	+	2	0	CCR3	46281664	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.116000	0.15561	0.237000	0.21200	0.563000	0.77884	TCA	CCR3	-	prints_Chemokine_CCR1		0.418	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	HGNC	protein_coding	OTTHUMT00000257380.2	C			46306660	+1	no_errors	ENST00000545097	ensembl	human	known	70_37	missense	SNP	0.000	T
CCT3	7203	genome.wustl.edu	37	1	156278946	156278946	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:156278946G>A	ENST00000295688.3	-	0	1962				CCT3_ENST00000368261.3_3'UTR|CCT3_ENST00000368259.2_3'UTR	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					AGGAAAAGGGGAGACTCTGCT	0.587																																																	0													65.0	70.0	68.0					1																	156278946		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7203			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.*44C>T	1.37:g.156278946G>A			A6NE14|Q5SZY1|Q9BR64	RNA	SNP	-	NULL	ENST00000295688.3	37	NULL	CCDS1140.2	1																																																																																			CCT3	-	-		0.587	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT3	HGNC	protein_coding	OTTHUMT00000060602.3	G	NM_005998		156278946	-1	no_errors	ENST00000465714	ensembl	human	known	70_37	rna	SNP	0.061	A
CCZ1	51622	genome.wustl.edu	37	7	5963465	5963465	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:5963465G>A	ENST00000325974.6	+	14	1331		c.e14-1		CCZ1_ENST00000537980.1_Splice_Site	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)							lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						TCGTCTTGCAGAGTGGATGAA	0.463																																																	0													135.0	120.0	125.0					7																	5963465		2179	4214	6393	SO:0001630	splice_region_variant	51622			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 28A"""	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.1266-1G>A	7.37:g.5963465G>A			A2RU45|O95766|Q9UG65|Q9Y359	Splice_Site	SNP	-	e14-1	ENST00000325974.6	37	c.1266-1	CCDS34597.1	7	.	.	.	.	.	.	.	.	.	.	g	19.58	3.855211	0.71719	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.906	0.86128	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCZ1	5929991	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.792000	0.99085	2.307000	0.77673	0.638000	0.83543	.	CCZ1	-	-		0.463	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1	HGNC	protein_coding	OTTHUMT00000340391.1	G	NM_015622	Intron	5963465	+1	no_errors	ENST00000325974	ensembl	human	known	70_37	splice_site	SNP	1.000	A
CCZ1	51622	genome.wustl.edu	37	7	5963473	5963473	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:5963473G>A	ENST00000325974.6	+	14	1339	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	CCZ1_ENST00000537980.1_Missense_Mutation_p.E282K	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	425						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						CAGAGTGGATGAAGATGAGGA	0.443																																																	0													120.0	107.0	111.0					7																	5963473		2178	4212	6390	SO:0001583	missense	51622			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 28A"""	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.1273G>A	7.37:g.5963473G>A	ENSP00000325681:p.Glu425Lys		A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	pfam_DUF1712_fun	p.E425K	ENST00000325974.6	37	c.1273	CCDS34597.1	7	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443064	0.63067	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	L	0.54323	1.7	0.80722	D	1	P	0.37594	0.601	B	0.37198	0.243	T	0.50136	-0.8863	9	0.10377	T	0.69	-22.9359	16.906	0.86128	0.0:0.0:1.0:0.0	.	425	P86790	CCZ1L_HUMAN	K	425;282	.	ENSP00000325681:E425K	E	+	1	0	CCZ1	5929999	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.792000	0.99085	2.307000	0.77673	0.638000	0.83543	GAA	CCZ1	-	pfam_DUF1712_fun		0.443	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1	HGNC	protein_coding	OTTHUMT00000340391.1	G	NM_015622		5963473	+1	no_errors	ENST00000325974	ensembl	human	known	70_37	missense	SNP	1.000	A
CD37	951	genome.wustl.edu	37	19	49838725	49838725	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:49838725C>G	ENST00000323906.4	+	0	69				CD37_ENST00000535669.2_5'UTR|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_5'UTR|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_5'UTR	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule						defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		cagcctctttctttctccctg	0.572																																																	0																																										SO:0001623	5_prime_UTR_variant	951				CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.-73C>G	19.37:g.49838725C>G			B4DVC1|Q3KPF9	RNA	SNP	-	NULL	ENST00000323906.4	37	NULL	CCDS12760.1	19																																																																																			CD37	-	-		0.572	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD37	HGNC	protein_coding	OTTHUMT00000465532.1	C			49838725	+1	no_errors	ENST00000596426	ensembl	human	known	70_37	rna	SNP	0.026	G
CD99L2	83692	genome.wustl.edu	37	X	149963687	149963687	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:149963687C>T	ENST00000370377.3	-	6	539	c.422G>A	c.(421-423)gGa>gAa	p.G141E	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.G69E|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000466436.1_Missense_Mutation_p.G92E	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	141	Poly-Gly.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCCTCCTCCAGCAATTGG	0.507																																																	0													157.0	158.0	158.0					X																	149963687		2203	4300	6503	SO:0001583	missense	83692			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.422G>A	X.37:g.149963687C>T	ENSP00000359403:p.Gly141Glu		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	pfam_CD99L2	p.G141E	ENST00000370377.3	37	c.422	CCDS35427.1	X	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096565	0.20552	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000466436;ENST00000418547	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.67	0.628	0.17681	.	0.486738	0.21104	N	0.080118	T	0.40619	0.1124	M	0.73372	2.23	0.47584	D	0.999469	D;D;B	0.76494	0.996;0.999;0.046	P;D;B	0.74023	0.898;0.982;0.04	T	0.12941	-1.0528	9	.	.	.	-10.2617	11.6756	0.51427	0.0:0.4867:0.5133:0.0	.	69;92;141	Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;C99L2_HUMAN	E	141;145;69;92;104	ENSP00000359403:G141E;ENSP00000347275:G69E;ENSP00000417697:G92E;ENSP00000391821:G104E	.	G	-	2	0	CD99L2	149714345	0.002000	0.14202	0.488000	0.27440	0.522000	0.34438	0.349000	0.20055	0.011000	0.14865	0.513000	0.50165	GGA	CD99L2	-	pfam_CD99L2		0.507	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	C	NM_031462		149963687	-1	no_errors	ENST00000370377	ensembl	human	known	70_37	missense	SNP	0.655	T
CDC20B	166979	genome.wustl.edu	37	5	54420851	54420851	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:54420851G>C	ENST00000381375.2	-	9	1140	c.995C>G	c.(994-996)tCa>tGa	p.S332*	CDC20B_ENST00000322374.6_Nonsense_Mutation_p.S332*|CDC20B_ENST00000296733.1_Nonsense_Mutation_p.S332*|CDC20B_ENST00000334206.5_Missense_Mutation_p.Q361E			Q86Y33	CD20B_HUMAN	cell division cycle 20B	332										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCCCAGTCTTGACCCACTGCG	0.438																																																	0													72.0	64.0	67.0					5																	54420851		2203	4300	6503	SO:0001587	stop_gained	166979			AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.995C>G	5.37:g.54420851G>C	ENSP00000370781:p.Ser332*		B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S332*	ENST00000381375.2	37	c.995	CCDS54852.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.596528|4.596528	0.86953|0.86953	.|.	.|.	ENSG00000164287|ENSG00000164287	ENST00000334206|ENST00000296733;ENST00000381375;ENST00000322374	T|.	0.11385|.	2.78|.	4.66|4.66	3.79|3.79	0.43588|0.43588	.|.	.|0.000000	.|0.36444	.|N	.|0.002588	T|.	0.72087|.	0.3417|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.32467|.	0.372|.	B|.	0.27796|.	0.083|.	T|.	0.75516|.	-0.3290|.	8|.	0.10636|0.87932	T|D	0.68|0	-27.7667|-27.7667	12.4256|12.4256	0.55544|0.55544	0.0821:0.0:0.9179:0.0|0.0821:0.0:0.9179:0.0	.|.	361|.	Q86Y33-4|.	.|.	E|X	361|332	ENSP00000335664:Q361E|.	ENSP00000335664:Q361E|ENSP00000296733:S332X	Q|S	-|-	1|2	0|0	CDC20B|CDC20B	54456608|54456608	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.322000|0.322000	0.28314|0.28314	4.814000|4.814000	0.62627|0.62627	1.165000|1.165000	0.42670|0.42670	0.650000|0.650000	0.86243|0.86243	CAA|TCA	CDC20B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.438	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CDC20B	HGNC	protein_coding	OTTHUMT00000369715.1	G	NM_152623		54420851	-1	no_errors	ENST00000296733	ensembl	human	known	70_37	nonsense	SNP	0.995	C
CDCA2	157313	genome.wustl.edu	37	8	25327454	25327454	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:25327454G>A	ENST00000330560.3	+	7	1255	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	CDCA2_ENST00000380665.3_Missense_Mutation_p.E245K	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	260					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ATTTTTAGTTGAAGAGTCTCT	0.343																																																	0													98.0	99.0	98.0					8																	25327454		2203	4300	6503	SO:0001583	missense	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.778G>A	8.37:g.25327454G>A	ENSP00000328228:p.Glu260Lys		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	NULL	p.E260K	ENST00000330560.3	37	c.778	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279115	0.23307	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.32272	1.46;1.46	5.06	0.468	0.16732	.	1.058180	0.07327	N	0.878642	T	0.26666	0.0652	L	0.57536	1.79	0.09310	N	1	B;B;B	0.23891	0.046;0.093;0.093	B;B;B	0.23018	0.019;0.043;0.043	T	0.32268	-0.9913	10	0.35671	T	0.21	-1.7695	3.275	0.06896	0.3001:0.0:0.4771:0.2227	.	260;245;260	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	K	260;245	ENSP00000328228:E260K;ENSP00000370040:E245K	ENSP00000328228:E260K	E	+	1	0	CDCA2	25383371	0.258000	0.24033	0.006000	0.13384	0.463000	0.32649	0.656000	0.24948	0.266000	0.21894	0.650000	0.86243	GAA	CDCA2	-	NULL		0.343	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	G	NM_152562		25327454	+1	no_errors	ENST00000330560	ensembl	human	known	70_37	missense	SNP	0.008	A
CDH1	999	genome.wustl.edu	37	16	68867208	68867208	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:68867208G>A	ENST00000261769.5	+	16	2646	c.2455G>A	c.(2455-2457)Gat>Aat	p.D819N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.D758N	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	819	Required for binding alpha, beta and gamma catenins.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAAAGCGGCTGATACTGACCC	0.488			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0													80.0	81.0	80.0					16																	68867208		2198	4300	6498	SO:0001583	missense	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2455G>A	16.37:g.68867208G>A	ENSP00000261769:p.Asp819Asn		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D819N	ENST00000261769.5	37	c.2455	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825776	0.50739	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.80653	-1.4;-1.4	6.04	5.09	0.68999	Cadherin, cytoplasmic domain (1);	0.000000	0.53938	D	0.000060	T	0.81884	0.4917	L	0.49778	1.585	0.80722	D	1	P;P	0.40032	0.699;0.581	P;P	0.47786	0.557;0.447	T	0.81588	-0.0864	10	0.44086	T	0.13	.	14.8672	0.70425	0.0692:0.0:0.9308:0.0	.	758;819	Q9UII8;P12830	.;CADH1_HUMAN	N	819;837;758	ENSP00000261769:D819N;ENSP00000414946:D758N	ENSP00000261769:D819N	D	+	1	0	CDH1	67424709	1.000000	0.71417	0.045000	0.18777	0.058000	0.15608	7.946000	0.87746	1.557000	0.49525	0.563000	0.77884	GAT	CDH1	-	pfam_Cadherin_cytoplasmic-dom		0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	G	NM_004360		68867208	+1	no_errors	ENST00000261769	ensembl	human	known	70_37	missense	SNP	0.998	A
CDH13	1012	genome.wustl.edu	37	16	83816988	83816988	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:83816988G>A	ENST00000566620.1	+	13	2335	c.2045G>A	c.(2044-2046)tGc>tAc	p.C682Y	CDH13_ENST00000428848.3_Missense_Mutation_p.C643Y|CDH13_ENST00000268613.10_Missense_Mutation_p.C729Y	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	682	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTGTGCTCCTGCAGGAATTCC	0.527																																																	0													95.0	94.0	94.0					16																	83816988		1996	4165	6161	SO:0001583	missense	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.2045G>A	16.37:g.83816988G>A	ENSP00000454435:p.Cys682Tyr		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C682Y	ENST00000566620.1	37	c.2045	CCDS58486.1	16	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280617	0.40294	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000539548;ENST00000540531	T	0.61742	0.08	5.19	4.22	0.49857	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.78426	0.4281	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.85130	0.996;0.997;0.986	T	0.82680	-0.0337	9	0.87932	D	0	.	14.1607	0.65446	0.0:0.0:0.8491:0.1509	.	643;729;682	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	Y	729;682;643;384;241;372	ENSP00000268613:C729Y	ENSP00000268613:C729Y	C	+	2	0	CDH13	82374489	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	8.836000	0.92105	1.156000	0.42514	-0.182000	0.12963	TGC	CDH13	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.527	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	G	NM_001257		83816988	+1	no_errors	ENST00000566620	ensembl	human	known	70_37	missense	SNP	1.000	A
CDH22	64405	genome.wustl.edu	37	20	44841750	44841750	+	Missense_Mutation	SNP	C	C	T	rs143440003	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:44841750C>T	ENST00000372262.3	-	5	1316	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	CDH22_ENST00000537909.1_Missense_Mutation_p.V306M|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TTCTCTCCCACGTCTGAGTCC	0.582																																																	0									MET/VAL	1,4405	2.1+/-5.4	0,1,2202	158.0	97.0	118.0		916	4.2	1.0	20	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CDH22	NM_021248.1	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	306/829	44841750	2,13004	2203	4300	6503	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.916G>A	20.37:g.44841750C>T	ENSP00000361336:p.Val306Met		B9EGK7|O43205	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V306M	ENST00000372262.3	37	c.916	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	c	13.75	2.330440	0.41297	2.27E-4	1.16E-4	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.51817	0.69;0.69	4.17	4.17	0.49024	Cadherin (4);Cadherin-like (1);	0.132588	0.50627	D	0.000104	T	0.35799	0.0944	L	0.37750	1.13	0.33542	D	0.595046	P	0.35959	0.53	B	0.27262	0.078	T	0.55049	-0.8201	10	0.42905	T	0.14	.	15.6823	0.77381	0.0:1.0:0.0:0.0	.	306	Q9UJ99	CAD22_HUMAN	M	306	ENSP00000361336:V306M;ENSP00000437790:V306M	ENSP00000361336:V306M	V	-	1	0	CDH22	44275157	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.316000	0.43761	2.172000	0.68678	0.550000	0.68814	GTG	CDH22	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.582	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1	C	NM_021248		44841750	-1	no_errors	ENST00000372262	ensembl	human	known	70_37	missense	SNP	1.000	T
CELSR1	9620	genome.wustl.edu	37	22	46760469	46760469	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:46760469C>T	ENST00000262738.3	-	33	8718	c.8719G>A	c.(8719-8721)Gac>Aac	p.D2907N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2907					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTCTCCTGGTCCGGGGGGTAC	0.692																																																	0													27.0	32.0	31.0					22																	46760469		2198	4294	6492	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8719G>A	22.37:g.46760469C>T	ENSP00000262738:p.Asp2907Asn		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.D2907N	ENST00000262738.3	37	c.8719	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091316	0.36855	.	.	ENSG00000075275	ENST00000262738	T	0.69306	-0.39	3.64	3.64	0.41730	.	0.094886	0.37437	U	0.002083	T	0.53433	0.1796	L	0.39898	1.24	0.80722	D	1	P	0.34462	0.454	B	0.29663	0.105	T	0.51803	-0.8659	10	0.17369	T	0.5	.	14.9349	0.70948	0.0:1.0:0.0:0.0	.	2907	Q9NYQ6	CELR1_HUMAN	N	2907	ENSP00000262738:D2907N	ENSP00000262738:D2907N	D	-	1	0	CELSR1	45139133	0.100000	0.21855	0.003000	0.11579	0.015000	0.08874	2.059000	0.41384	1.578000	0.49821	0.563000	0.77884	GAC	CELSR1	-	NULL		0.692	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	C	NM_014246		46760469	-1	no_errors	ENST00000262738	ensembl	human	known	70_37	missense	SNP	0.055	T
CFLAR	8837	genome.wustl.edu	37	2	202013792	202013792	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:202013792C>G	ENST00000309955.3	+	7	1226				CFLAR-AS1_ENST00000594911.1_RNA|CFLAR-AS1_ENST00000601974.1_RNA|CFLAR_ENST00000342795.5_Intron|CFLAR_ENST00000423241.2_Intron|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR-AS1_ENST00000598453.1_RNA|CFLAR_ENST00000479953.2_Intron|CFLAR-AS1_ENST00000598509.1_RNA|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000457277.1_Intron|CFLAR-AS1_ENST00000593896.1_RNA|CFLAR-AS1_ENST00000595372.1_RNA|CFLAR_ENST00000340870.5_Intron|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000341582.6_Intron	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AATAAATGATCTGATTTGGTA	0.383																																					Pancreas(16;548 657 22190 32864 42338)												0													153.0	144.0	147.0					2																	202013792		2203	4300	6503	SO:0001627	intron_variant	65072			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.711+17C>G	2.37:g.202013792C>G			B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	RNA	SNP	-	NULL	ENST00000309955.3	37	NULL	CCDS2337.1	2																																																																																			CFLAR-AS1	-	-		0.383	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CFLAR-AS1	HGNC	protein_coding	OTTHUMT00000256276.3	C	NM_003879		202013792	-1	no_errors	ENST00000595372	ensembl	human	known	70_37	rna	SNP	0.003	G
CFLAR	8837	genome.wustl.edu	37	2	202014626	202014626	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:202014626C>T	ENST00000309955.3	+	8	1308				CFLAR-AS1_ENST00000594911.1_RNA|CFLAR-AS1_ENST00000601974.1_RNA|CFLAR_ENST00000342795.5_Intron|CFLAR_ENST00000423241.2_Intron|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR-AS1_ENST00000598453.1_RNA|CFLAR_ENST00000479953.2_Intron|CFLAR-AS1_ENST00000598509.1_RNA|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000457277.1_Intron|CFLAR-AS1_ENST00000593896.1_RNA|CFLAR-AS1_ENST00000595372.1_RNA|CFLAR_ENST00000340870.5_Intron|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000341582.6_Intron	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AAGCTGTATTCATTGGAGTGA	0.502																																					Pancreas(16;548 657 22190 32864 42338)												0																																										SO:0001627	intron_variant	65072			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.793+68C>T	2.37:g.202014626C>T			B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	RNA	SNP	-	NULL	ENST00000309955.3	37	NULL	CCDS2337.1	2																																																																																			CFLAR-AS1	-	-		0.502	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CFLAR-AS1	HGNC	protein_coding	OTTHUMT00000256276.3	C	NM_003879		202014626	-1	no_errors	ENST00000593896	ensembl	human	known	70_37	rna	SNP	0.000	T
CHD8	57680	genome.wustl.edu	37	14	21868389	21868389	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:21868389C>G	ENST00000557364.1	-	24	4911	c.4648G>C	c.(4648-4650)Gat>Cat	p.D1550H	CHD8_ENST00000430710.3_Missense_Mutation_p.D1271H|SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000399982.2_Missense_Mutation_p.D1550H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1550					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.D1550N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGGATCCAATCTGCCTTATGG	0.403																																																	1	Substitution - Missense(1)	lung(1)											137.0	129.0	131.0					14																	21868389		1853	4097	5950	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4648G>C	14.37:g.21868389C>G	ENSP00000451601:p.Asp1550His		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D1550H	ENST00000557364.1	37	c.4648	CCDS53885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.864106|2.864106	0.51482|0.51482	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.84660|.	-1.88;-1.88;-1.88|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.052363|.	0.85682|.	D|.	0.000000|.	T|T	0.57681|0.57681	0.2070|0.2070	L|L	0.31664|0.31664	0.95|0.95	0.80722|0.80722	D|D	1|1	B|.	0.19200|.	0.034|.	B|.	0.25614|.	0.062|.	T|T	0.51872|0.51872	-0.8650|-0.8650	10|5	0.45353|.	T|.	0.12|.	-13.531|-13.531	17.6948|17.6948	0.88278|0.88278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1271|.	Q9HCK8-2|.	.|.	H|T	1271;1550;1270;1550|783	ENSP00000406288:D1271H;ENSP00000382863:D1550H;ENSP00000451601:D1550H|.	ENSP00000262707:D1270H|.	D|R	-|-	1|2	0|0	CHD8|CHD8	20938229|20938229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.651000|7.651000	0.83577|0.83577	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	GAT|AGA	CHD8	-	NULL		0.403	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21868389	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	G
CHD8	57680	genome.wustl.edu	37	14	21899210	21899210	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:21899210C>T	ENST00000557364.1	-	2	856	c.593G>A	c.(592-594)gGa>gAa	p.G198E	RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.G198E			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	198					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGTGACTTTTCCACCATTGGC	0.557																																																	0													43.0	39.0	40.0					14																	21899210		1568	3582	5150	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.593G>A	14.37:g.21899210C>T	ENSP00000451601:p.Gly198Glu		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G198E	ENST00000557364.1	37	c.593	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331805	0.81801	.	.	ENSG00000100888	ENST00000399982;ENST00000557364	D;D	0.92911	-3.13;-3.13	5.86	5.86	0.93980	.	0.353536	0.19531	U	0.112026	D	0.91771	0.7397	L	0.27053	0.805	0.54753	D	0.999983	.	.	.	.	.	.	D	0.91766	0.5424	8	0.56958	D	0.05	-8.5426	18.9562	0.92659	0.0:1.0:0.0:0.0	.	.	.	.	E	198	ENSP00000382863:G198E;ENSP00000451601:G198E	ENSP00000382863:G198E	G	-	2	0	CHD8	20969050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.832000	0.62759	2.775000	0.95449	0.585000	0.79938	GGA	CHD8	-	NULL		0.557	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21899210	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	T
CHFR	55743	genome.wustl.edu	37	12	133446252	133446252	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:133446252G>A	ENST00000432561.2	-	6	645	c.572C>T	c.(571-573)tCt>tTt	p.S191F	CHFR_ENST00000541837.2_Intron|CHFR_ENST00000443047.2_Intron|CHFR_ENST00000450056.2_Missense_Mutation_p.S179F|CHFR_ENST00000315585.7_Intron|CHFR_ENST00000266880.7_Missense_Mutation_p.S191F			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	191					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTCCGTGGAAGAGGCCGAGGC	0.592																																																	0													93.0	102.0	100.0					12																	133446252		692	1591	2283	SO:0001583	missense	55743			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.572C>T	12.37:g.133446252G>A	ENSP00000392395:p.Ser191Phe		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING	p.S191F	ENST00000432561.2	37	c.572	CCDS53849.1	12	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375688	0.42105	.	.	ENSG00000072609	ENST00000450056;ENST00000266880;ENST00000432561;ENST00000541817;ENST00000540963;ENST00000540537;ENST00000542714	T;T;T	0.20069	2.35;2.1;2.36	5.1	4.2	0.49525	.	0.186113	0.49305	D	0.000147	T	0.38852	0.1056	M	0.61703	1.905	0.44275	D	0.997139	P;P;P	0.51351	0.944;0.907;0.789	P;P;P	0.57057	0.812;0.653;0.61	T	0.28427	-1.0044	10	0.66056	D	0.02	-19.0036	15.1618	0.72791	0.0:0.1422:0.8578:0.0	.	191;191;179	Q96EP1-4;Q96EP1;Q96EP1-2	.;CHFR_HUMAN;.	F	179;191;191;51;179;10;63	ENSP00000398735:S179F;ENSP00000266880:S191F;ENSP00000392395:S191F	ENSP00000266880:S191F	S	-	2	0	CHFR	131956325	1.000000	0.71417	0.929000	0.37066	0.018000	0.09664	6.291000	0.72719	1.117000	0.41842	-0.386000	0.06593	TCT	CHFR	-	NULL		0.592	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CHFR	HGNC	protein_coding	OTTHUMT00000397130.2	G			133446252	-1	no_errors	ENST00000266880	ensembl	human	known	70_37	missense	SNP	0.997	A
CHRNA1	1134	genome.wustl.edu	37	2	175613442	175613442	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:175613442C>T	ENST00000261007.5	-	9	1249	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.D370N|CHRNA1_ENST00000409542.1_Missense_Mutation_p.D288N|CHRNA1_ENST00000409219.1_Intron	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	395					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CCAGAAATGTCAGAGATATCA	0.448											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													159.0	153.0	155.0					2																	175613442		2203	4300	6503	SO:0001583	missense	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1183G>A	2.37:g.175613442C>T	ENSP00000261007:p.Asp395Asn	1924	B4DRV6|D3DPE8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.D395N	ENST00000261007.5	37	c.1183	CCDS33331.1	2	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426661	0.62733	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542	D;D;D	0.81499	-1.5;-1.5;-1.5	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.329118	0.27956	N	0.017178	D	0.82444	0.5038	L	0.29908	0.895	0.80722	D	1	B;P	0.50272	0.428;0.933	B;P	0.56216	0.289;0.794	T	0.81387	-0.0956	10	0.40728	T	0.16	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	370;395	Q53SH4;P02708	.;ACHA_HUMAN	N	370;395;288	ENSP00000261008:D370N;ENSP00000261007:D395N;ENSP00000387026:D288N	ENSP00000261007:D395N	D	-	1	0	CHRNA1	175321688	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	GAC	CHRNA1	-	superfamily_Neurotrans-gated_channel_TM		0.448	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	C			175613442	-1	no_errors	ENST00000261007	ensembl	human	known	70_37	missense	SNP	1.000	T
CIC	23152	genome.wustl.edu	37	19	42797347	42797347	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:42797347G>A	ENST00000575354.2	+	15	3749	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K	CIC_ENST00000572681.2_Missense_Mutation_p.E2144K|CIC_ENST00000160740.3_Missense_Mutation_p.E1235K	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1237	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCCTGCCAGAGACCTGGAC	0.711			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													9.0	11.0	10.0					19																	42797347		2164	4264	6428	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3709G>A	19.37:g.42797347G>A	ENSP00000458663:p.Glu1237Lys		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E1237K	ENST00000575354.2	37	c.3709	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563286	0.27915	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	T	0.23133	0.0559	N	0.24115	0.695	0.28413	N	0.918073	P	0.37781	0.608	B	0.26864	0.074	T	0.16778	-1.0391	8	0.87932	D	0	-23.8139	12.9884	0.58604	0.0:0.0:1.0:0.0	.	1237	Q96RK0	CIC_HUMAN	K	1237	.	ENSP00000160740:E1237K	E	+	1	0	CIC	47489187	0.997000	0.39634	0.990000	0.47175	0.207000	0.24258	3.550000	0.53691	2.537000	0.85549	0.491000	0.48974	GAG	CIC	-	NULL		0.711	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42797347	+1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	1.000	A
CKAP4	10970	genome.wustl.edu	37	12	106633846	106633846	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:106633846G>A	ENST00000378026.4	-	2	901	c.765C>T	c.(763-765)ttC>ttT	p.F255F	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	255						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GGACTTCTGTGAAGATGGCGA	0.547																																																	0													144.0	132.0	136.0					12																	106633846		2203	4300	6503	SO:0001819	synonymous_variant	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.765C>T	12.37:g.106633846G>A			Q504S5|Q53ES6	Silent	SNP	superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.F255	ENST00000378026.4	37	c.765	CCDS9103.1	12																																																																																			CKAP4	-	NULL		0.547	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	HGNC	protein_coding	OTTHUMT00000407196.1	G			106633846	-1	no_errors	ENST00000378026	ensembl	human	known	70_37	silent	SNP	1.000	A
CLDN11	5010	genome.wustl.edu	37	3	170425951	170425951	+	3'UTR	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:170425951G>T	ENST00000486975.1	+	0	709							O75508	CLD11_HUMAN	claudin 11						axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AATGGGAATGGAATGGGAACG	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	5010			AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"""Claudins"""	8514	protein-coding gene	gene with protein product		601326	"""oligodendrocyte transmembrane protein"""	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000486975.1:c.*12G>T	3.37:g.170425951G>T			B2R7C1|D3DNQ5|Q5U0P3	RNA	SNP	-	NULL	ENST00000486975.1	37	NULL		3																																																																																			CLDN11	-	-		0.453	CLDN11-002	PUTATIVE	basic	protein_coding	CLDN11	HGNC	protein_coding	OTTHUMT00000352414.1	G	NM_005602		170425951	+1	no_errors	ENST00000480067	ensembl	human	known	70_37	rna	SNP	0.000	T
CLK2	1196	genome.wustl.edu	37	1	155235704	155235704	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:155235704C>T	ENST00000368361.4	-	8	1195	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	CLK2_ENST00000361168.5_Missense_Mutation_p.E293K|CLK2_ENST00000355560.4_Missense_Mutation_p.E292K|CLK2_ENST00000536801.1_Missense_Mutation_p.E294K|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAATATTTTCAGGCTTGAGG	0.507								Other conserved DNA damage response genes																																									0													179.0	166.0	170.0					1																	155235704		2203	4298	6501	SO:0001583	missense	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.880G>A	1.37:g.155235704C>T	ENSP00000357345:p.Glu294Lys		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E294K	ENST00000368361.4	37	c.880		1	.	.	.	.	.	.	.	.	.	.	.	35	5.495619	0.96355	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59770	0.2218	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71902	-0.4452	10	0.87932	D	0	.	17.5549	0.87887	0.0:1.0:0.0:0.0	.	294;293	P49760;P49760-3	CLK2_HUMAN;.	K	293;294;292;66;294	ENSP00000354856:E293K;ENSP00000357345:E294K;ENSP00000347759:E292K;ENSP00000441023:E294K	ENSP00000347759:E292K	E	-	1	0	CLK2	153502328	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.609000	0.82925	2.806000	0.96561	0.655000	0.94253	GAA	CLK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.507	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	C	NM_003993		155235704	-1	no_errors	ENST00000368361	ensembl	human	known	70_37	missense	SNP	1.000	T
CMTM2	146225	genome.wustl.edu	37	16	66620961	66620961	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:66620961G>C	ENST00000268595.2	+	3	657	c.506G>C	c.(505-507)aGa>aCa	p.R169T	CMTM2_ENST00000379486.2_Missense_Mutation_p.R116T	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	169	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TTTGCTGTGAGAAGTCGGCGA	0.517																																																	0													259.0	195.0	217.0					16																	66620961		2201	4300	6501	SO:0001583	missense	146225			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.506G>C	16.37:g.66620961G>C	ENSP00000268595:p.Arg169Thr		Q5I2A4|Q8N7E5	Missense_Mutation	SNP	NULL	p.R169T	ENST00000268595.2	37	c.506	CCDS10814.1	16	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757261	0.49468	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.47528	0.84;1.55	4.05	-8.1	0.01086	Marvel (1);	1.278280	0.05365	N	0.534425	T	0.28333	0.0700	L	0.43152	1.355	0.09310	N	1	B;B	0.24823	0.112;0.112	B;B	0.20184	0.028;0.028	T	0.15954	-1.0419	10	0.28530	T	0.3	-0.2633	0.2342	0.00184	0.2643:0.2418:0.2542:0.2397	.	116;169	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	T	116;169	ENSP00000368800:R116T;ENSP00000268595:R169T	ENSP00000268595:R169T	R	+	2	0	CMTM2	65178462	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.863000	0.00725	-1.583000	0.01638	-0.314000	0.08810	AGA	CMTM2	-	NULL		0.517	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMTM2	HGNC	protein_coding	OTTHUMT00000268808.1	G			66620961	+1	no_errors	ENST00000268595	ensembl	human	known	70_37	missense	SNP	0.000	C
CNGA4	1262	genome.wustl.edu	37	11	6265351	6265351	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:6265351G>C	ENST00000379936.2	+	6	1555	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	480					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTGGACGTGAATGCTGAGG	0.567																																																	0													111.0	93.0	99.0					11																	6265351		2201	4296	6497	SO:0001819	synonymous_variant	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1440G>C	11.37:g.6265351G>C				Silent	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.V480	ENST00000379936.2	37	c.1440	CCDS31408.1	11																																																																																			CNGA4	-	NULL		0.567	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	G	NM_001037329		6265351	+1	no_errors	ENST00000379936	ensembl	human	known	70_37	silent	SNP	1.000	C
CNKSR1	10256	genome.wustl.edu	37	1	26513963	26513963	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:26513963G>A	ENST00000374253.5	+	16	1504	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	CNKSR1_ENST00000361530.6_Missense_Mutation_p.D482N|CNKSR1_ENST00000531191.1_Missense_Mutation_p.D224N	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	489	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TACCCTGACAGATCTGAGCAT	0.537																																					NSCLC(180;1396 2109 28270 30756 34275)												0													160.0	137.0	145.0					1																	26513963		2203	4300	6503	SO:0001583	missense	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1465G>A	1.37:g.26513963G>A	ENSP00000363371:p.Asp489Asn		B1AMW9|O95381	Missense_Mutation	SNP	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.D489N	ENST00000374253.5	37	c.1465		1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021677	0.93462	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.15718	2.4;2.4;2.4	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	L	0.55834	1.745	0.80722	D	1	D;D	0.69078	0.997;0.997	P;D	0.64877	0.906;0.93	T	0.07501	-1.0769	10	0.87932	D	0	-13.3699	19.5245	0.95199	0.0:0.0:1.0:0.0	.	489;482	Q969H4;Q53GM7	CNKR1_HUMAN;.	N	482;489;224	ENSP00000354609:D482N;ENSP00000363371:D489N;ENSP00000431817:D224N	ENSP00000354609:D482N	D	+	1	0	CNKSR1	26386550	1.000000	0.71417	0.967000	0.41034	0.825000	0.46686	8.060000	0.89464	2.608000	0.88229	0.655000	0.94253	GAT	CNKSR1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.537	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2	G	NM_006314		26513963	+1	no_errors	ENST00000374253	ensembl	human	known	70_37	missense	SNP	1.000	A
CNNM2	54805	genome.wustl.edu	37	10	104835960	104835960	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:104835960C>T	ENST00000369878.4	+	7	2539	c.2351C>T	c.(2350-2352)tCt>tTt	p.S784F	CNNM2_ENST00000433628.2_Missense_Mutation_p.S762F|CNNM2_ENST00000475511.1_3'UTR	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	784					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAGCTCAATTCTTCGCTCCTC	0.552																																																	0													71.0	75.0	74.0					10																	104835960		2056	4206	6262	SO:0001583	missense	54805			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2351C>T	10.37:g.104835960C>T	ENSP00000358894:p.Ser784Phe		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.S785F	ENST00000369878.4	37	c.2354	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830159	0.91036	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T;T	0.54675	0.56;1.31	5.82	5.82	0.92795	.	0.249514	0.40728	N	0.001029	T	0.71384	0.3333	M	0.66297	2.02	0.47153	D	0.999336	D;D	0.71674	0.998;0.994	D;P	0.63597	0.916;0.825	T	0.72730	-0.4205	10	0.87932	D	0	.	20.0926	0.97825	0.0:1.0:0.0:0.0	.	762;784	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	F	785;763;784;762	ENSP00000392875:S763F;ENSP00000358894:S784F	ENSP00000286899:S762F	S	+	2	0	CNNM2	104825950	0.961000	0.32948	0.013000	0.15412	0.949000	0.60115	4.379000	0.59575	2.745000	0.94114	0.561000	0.74099	TCT	CNNM2	-	NULL		0.552	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	C	NM_017649		104835960	+1	no_errors	ENST00000457502	ensembl	human	known	70_37	missense	SNP	0.798	T
CNNM4	26504	genome.wustl.edu	37	2	97475114	97475114	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:97475114C>G	ENST00000377075.2	+	7	2286	c.2188C>G	c.(2188-2190)Cag>Gag	p.Q730E	CNNM4_ENST00000540067.1_Nonsense_Mutation_p.S246*|RP11-353K11.1_ENST00000608609.1_lincRNA	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	730					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.Q730*(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GAACAGCCCTCAGTTTCCCAT	0.577																																																	1	Substitution - Nonsense(1)	breast(1)											95.0	80.0	85.0					2																	97475114		2203	4300	6503	SO:0001583	missense	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.2188C>G	2.37:g.97475114C>G	ENSP00000366275:p.Gln730Glu		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Nonsense_Mutation	SNP	superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S246*	ENST00000377075.2	37	c.737	CCDS2024.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.438195|7.438195	0.98286|0.98286	.|.	.|.	ENSG00000158158|ENSG00000158158	ENST00000377075|ENST00000540067	T|.	0.34472|.	1.36|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74726|.	0.3754|.	M|M	0.79475|0.79475	2.455|2.455	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.37276|.	0.589|.	B|.	0.36335|.	0.222|.	T|.	0.70868|.	-0.4755|.	10|.	0.39692|0.23302	T|T	0.17|0.38	-17.6723|-17.6723	16.4914|16.4914	0.84202|0.84202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	730|.	Q6P4Q7|.	CNNM4_HUMAN|.	E|X	730|246	ENSP00000366275:Q730E|.	ENSP00000366275:Q730E|ENSP00000444806:S246X	Q|S	+|+	1|2	0|0	CNNM4|CNNM4	96838841|96838841	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.962000|0.962000	0.63368|0.63368	7.062000|7.062000	0.76706|0.76706	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	CAG|TCA	CNNM4	-	NULL		0.577	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	C	NM_020184		97475114	+1	no_errors	ENST00000540067	ensembl	human	known	70_37	nonsense	SNP	1.000	G
CNPY4	245812	genome.wustl.edu	37	7	99722592	99722592	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:99722592C>T	ENST00000262932.3	+	0	960				CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4							extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACAGCTTTCAGGGTGTGTT	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	245812			AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.*81C>T	7.37:g.99722592C>T			Q8WUN9	RNA	SNP	-	NULL	ENST00000262932.3	37	NULL	CCDS34701.1	7																																																																																			CNPY4	-	-		0.537	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY4	HGNC	protein_coding	OTTHUMT00000337224.4	C	NM_152755		99722592	+1	no_errors	ENST00000480692	ensembl	human	known	70_37	rna	SNP	0.001	T
CNPY4	245812	genome.wustl.edu	37	7	99722651	99722651	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:99722651C>T	ENST00000262932.3	+	0	1019				CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4							extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATCTAACCTCAGGCAAGATC	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	245812			AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.*140C>T	7.37:g.99722651C>T			Q8WUN9	RNA	SNP	-	NULL	ENST00000262932.3	37	NULL	CCDS34701.1	7																																																																																			CNPY4	-	-		0.537	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY4	HGNC	protein_coding	OTTHUMT00000337224.4	C	NM_152755		99722651	+1	no_errors	ENST00000480692	ensembl	human	known	70_37	rna	SNP	0.080	T
CNTN6	27255	genome.wustl.edu	37	3	1444154	1444154	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:1444154G>A	ENST00000446702.2	+	22	3597	c.2970G>A	c.(2968-2970)agG>agA	p.R990R	CNTN6_ENST00000539053.1_Silent_p.R918R|CNTN6_ENST00000350110.2_Silent_p.R990R			Q9UQ52	CNTN6_HUMAN	contactin 6	990	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGGAAATTAGGATTCCAAAAA	0.403																																																	0													112.0	106.0	108.0					3																	1444154		2203	4300	6503	SO:0001819	synonymous_variant	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2970G>A	3.37:g.1444154G>A			Q2KHM2	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R990	ENST00000446702.2	37	c.2970	CCDS2557.1	3																																																																																			CNTN6	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.403	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	G	NM_014461		1444154	+1	no_errors	ENST00000350110	ensembl	human	known	70_37	silent	SNP	1.000	A
CNTN4	152330	genome.wustl.edu	37	3	3080685	3080685	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:3080685G>A	ENST00000397461.1	+	18	2545	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K	CNTN4_ENST00000418658.1_Missense_Mutation_p.E721K|CNTN4_ENST00000397459.2_Missense_Mutation_p.E393K|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.E393K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E502K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E721K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	721	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TATAACCTGGGAGGTAAATGA	0.433																																																	0													92.0	87.0	88.0					3																	3080685		2203	4300	6503	SO:0001583	missense	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2161G>A	3.37:g.3080685G>A	ENSP00000380602:p.Glu721Lys		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E721K	ENST00000397461.1	37	c.2161	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.417336	0.96092	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.49	5.49	0.81192	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.64567	1.98	0.80722	D	1	P;D	0.69078	0.939;0.997	P;P	0.60949	0.814;0.881	T	0.55095	-0.8194	10	0.17832	T	0.49	.	17.5773	0.87953	0.0:0.0:1.0:0.0	.	720;721	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	K	721;721;721;502;393;393	ENSP00000396010:E721K;ENSP00000380602:E721K;ENSP00000413642:E721K;ENSP00000351267:E502K;ENSP00000380600:E393K;ENSP00000392077:E393K	ENSP00000351267:E502K	E	+	1	0	CNTN4	3055685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.247000	0.95444	2.565000	0.86533	0.655000	0.94253	GAG	CNTN4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	G			3080685	+1	no_errors	ENST00000397461	ensembl	human	known	70_37	missense	SNP	1.000	A
COL5A1	1289	genome.wustl.edu	37	9	137690295	137690295	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:137690295G>C	ENST00000371817.3	+	37	3354	c.2940G>C	c.(2938-2940)caG>caC	p.Q980H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	980	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCCTGGACAGAGAGGCGAGA	0.597																																																	0													120.0	99.0	106.0					9																	137690295		2203	4300	6503	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2940G>C	9.37:g.137690295G>C	ENSP00000360882:p.Gln980His		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.Q980H	ENST00000371817.3	37	c.2940	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307277	0.60305	.	.	ENSG00000130635	ENST00000371817	T	0.44881	0.91	4.81	3.91	0.45181	.	0.000000	0.85682	U	0.000000	T	0.50429	0.1615	L	0.29908	0.895	0.58432	D	0.999996	D	0.61697	0.99	D	0.72982	0.979	T	0.52968	-0.8504	10	0.87932	D	0	.	12.3187	0.54973	0.0837:0.0:0.9163:0.0	.	980	P20908	CO5A1_HUMAN	H	980	ENSP00000360882:Q980H	ENSP00000360882:Q980H	Q	+	3	2	COL5A1	136830116	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.609000	0.82925	1.001000	0.39076	0.643000	0.83706	CAG	COL5A1	-	NULL		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	G	NM_000093		137690295	+1	no_errors	ENST00000371817	ensembl	human	known	70_37	missense	SNP	1.000	C
COL6A2	1292	genome.wustl.edu	37	21	47532338	47532338	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:47532338C>G	ENST00000300527.4	+	3	665	c.561C>G	c.(559-561)ctC>ctG	p.L187L	COL6A2_ENST00000357838.4_Silent_p.L187L|COL6A2_ENST00000397763.1_Silent_p.L187L|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000310645.5_Silent_p.L187L|COL6A2_ENST00000409416.1_Silent_p.L187L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	187	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCATCCGGCTCTTCGCCGTGG	0.701																																																	0													15.0	22.0	20.0					21																	47532338		2179	4263	6442	SO:0001819	synonymous_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.561C>G	21.37:g.47532338C>G			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.L187	ENST00000300527.4	37	c.561	CCDS13728.1	21																																																																																			COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.701	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	C			47532338	+1	no_errors	ENST00000300527	ensembl	human	known	70_37	silent	SNP	0.966	G
COL8A2	1296	genome.wustl.edu	37	1	36563499	36563499	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:36563499C>T	ENST00000397799.1	-	4	2007	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	COL8A2_ENST00000481785.1_Missense_Mutation_p.D530N|COL8A2_ENST00000303143.4_Missense_Mutation_p.D595N			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	595	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAGTCCGGTCAAATTTCACG	0.622																																																	0													40.0	37.0	38.0					1																	36563499		2203	4300	6503	SO:0001583	missense	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1783G>A	1.37:g.36563499C>T	ENSP00000380901:p.Asp595Asn		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.D595N	ENST00000397799.1	37	c.1783	CCDS403.1	1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840877	0.71488	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.86694	-2.16;-2.16;-2.16	4.55	4.55	0.56014	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	L	0.40543	1.245	0.80722	D	1	P	0.34815	0.47	P	0.46299	0.511	T	0.80190	-0.1485	10	0.06757	T	0.87	.	17.8617	0.88783	0.0:1.0:0.0:0.0	.	595	P25067	CO8A2_HUMAN	N	595;595;530;319	ENSP00000305913:D595N;ENSP00000380901:D595N;ENSP00000436433:D530N	ENSP00000305913:D595N	D	-	1	0	COL8A2	36336086	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.765000	0.68834	2.506000	0.84524	0.563000	0.77884	GAC	COL8A2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.622	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	COL8A2	HGNC	protein_coding	OTTHUMT00000313674.1	C	NM_005202		36563499	-1	no_errors	ENST00000303143	ensembl	human	known	70_37	missense	SNP	1.000	T
COL8A2	1296	genome.wustl.edu	37	1	36564455	36564455	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:36564455C>G	ENST00000397799.1	-	4	1051	c.827G>C	c.(826-828)gGa>gCa	p.G276A	COL8A2_ENST00000481785.1_Missense_Mutation_p.G211A|COL8A2_ENST00000303143.4_Missense_Mutation_p.G276A			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	276	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCGTCTACTCCAGGAGGTCC	0.706																																																	0													16.0	19.0	18.0					1																	36564455		2195	4282	6477	SO:0001583	missense	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.827G>C	1.37:g.36564455C>G	ENSP00000380901:p.Gly276Ala		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G276A	ENST00000397799.1	37	c.827	CCDS403.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534302	0.45073	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.97850	-4.57;-4.57;-4.57	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.99007	0.9661	H	0.94847	3.59	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99239	1.0884	10	0.59425	D	0.04	.	15.9203	0.79562	0.0:1.0:0.0:0.0	.	276	P25067	CO8A2_HUMAN	A	276;276;211	ENSP00000305913:G276A;ENSP00000380901:G276A;ENSP00000436433:G211A	ENSP00000305913:G276A	G	-	2	0	COL8A2	36337042	1.000000	0.71417	0.974000	0.42286	0.786000	0.44442	5.873000	0.69644	1.971000	0.57363	0.407000	0.27541	GGA	COL8A2	-	NULL		0.706	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	COL8A2	HGNC	protein_coding	OTTHUMT00000313674.1	C	NM_005202		36564455	-1	no_errors	ENST00000303143	ensembl	human	known	70_37	missense	SNP	1.000	G
COPE	11316	genome.wustl.edu	37	19	19030098	19030098	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:19030098G>A	ENST00000262812.4	-	1	108	c.60C>T	c.(58-60)ttC>ttT	p.F20F	AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000438170.2_5'Flank|COPE_ENST00000351079.4_Silent_p.F20F|DDX49_ENST00000247003.4_5'Flank|COPE_ENST00000349893.4_Silent_p.F20F|COPE_ENST00000600932.1_Silent_p.F20F	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	20					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						TCTTTACGTCGAACAGCTCGT	0.672																																																	0													47.0	48.0	48.0					19																	19030098		2203	4300	6503	SO:0001819	synonymous_variant	11316			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.60C>T	19.37:g.19030098G>A			A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Silent	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.F20	ENST00000262812.4	37	c.60	CCDS12387.1	19																																																																																			COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu		0.672	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	G	NM_007263		19030098	-1	no_errors	ENST00000262812	ensembl	human	known	70_37	silent	SNP	1.000	A
COX5B	1329	genome.wustl.edu	37	2	98262630	98262630	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:98262630G>C	ENST00000258424.2	+	1	128	c.81G>C	c.(79-81)gcG>gcC	p.A27A	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	27					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						GCGCGGCCGCGATGCGCTCCA	0.706																																																	0													7.0	7.0	7.0					2																	98262630		2120	4134	6254	SO:0001819	synonymous_variant	1329			BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.81G>C	2.37:g.98262630G>C			Q53YB7|Q96J18|Q99610	Silent	SNP	pfam_Cyt_c_oxidase_su5b	p.A27	ENST00000258424.2	37	c.81	CCDS2032.1	2																																																																																			COX5B	-	NULL		0.706	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX5B	HGNC	protein_coding	OTTHUMT00000252972.2	G	NM_001862		98262630	+1	no_errors	ENST00000258424	ensembl	human	known	70_37	silent	SNP	0.001	C
CPA4	51200	genome.wustl.edu	37	7	129944388	129944388	+	Missense_Mutation	SNP	C	C	T	rs141042847	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:129944388C>T	ENST00000222482.4	+	5	483	c.455C>T	c.(454-456)tCg>tTg	p.S152L	CPA4_ENST00000445470.2_Missense_Mutation_p.S119L|CPA4_ENST00000493259.1_Missense_Mutation_p.S48L	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	152					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S152L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					ATTGGACATTCGTTTGAAAAC	0.527													C|||	3	0.000599042	0.0	0.0	5008	,	,		19364	0.003		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	central_nervous_system(1)						C	LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	166.0	148.0	154.0		356,455	4.4	0.1	7	dbSNP_134	154	0,8600		0,0,4300	no	missense,missense	CPA4	NM_001163446.1,NM_016352.3	145,145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	119/389,152/422	129944388	2,13004	2203	4300	6503	SO:0001583	missense	51200			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.455C>T	7.37:g.129944388C>T	ENSP00000222482:p.Ser152Leu		B7Z576|Q86UY9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.S152L	ENST00000222482.4	37	c.455	CCDS5818.1	7	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371419	0.42003	4.54E-4	0.0	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000492072;ENST00000473956;ENST00000493259	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	6.17	4.39	0.52855	Peptidase M14, carboxypeptidase A (3);	0.185210	0.48767	D	0.000164	T	0.57373	0.2049	M	0.90650	3.135	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.55392	-0.8148	10	0.87932	D	0	.	5.9847	0.19428	0.0:0.645:0.1371:0.218	.	119;152	B7Z576;Q9UI42	.;CBPA4_HUMAN	L	119;152;152;119;48	ENSP00000412947:S119L;ENSP00000222482:S152L;ENSP00000417255:S152L;ENSP00000418392:S119L;ENSP00000419660:S48L	ENSP00000222482:S152L	S	+	2	0	CPA4	129731624	0.000000	0.05858	0.091000	0.20842	0.003000	0.03518	0.629000	0.24538	0.954000	0.37851	-0.136000	0.14681	TCG	CPA4	-	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14		0.527	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA4	HGNC	protein_coding	OTTHUMT00000349725.1	C	NM_016352		129944388	+1	no_errors	ENST00000222482	ensembl	human	known	70_37	missense	SNP	0.002	T
CPAMD8	27151	genome.wustl.edu	37	19	17088210	17088210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:17088210G>A	ENST00000443236.1	-	15	1898	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	576						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACTGCAAACTGAAGGCTGTCG	0.602																																																	0													84.0	87.0	86.0					19																	17088210		1973	4156	6129	SO:0001587	stop_gained	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1867C>T	19.37:g.17088210G>A	ENSP00000402505:p.Gln623*		Q8NC09|Q9ULD7	Nonsense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.Q623*	ENST00000443236.1	37	c.1867	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	g	36	5.931366	0.97116	.	.	ENSG00000160111	ENST00000291440	.	.	.	2.62	2.62	0.31277	.	0.188851	0.35291	U	0.003317	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	13.4563	0.61201	0.0:0.0:1.0:0.0	.	.	.	.	X	623	.	ENSP00000291440:Q623X	Q	-	1	0	CPAMD8	16949210	1.000000	0.71417	0.865000	0.33974	0.504000	0.33889	7.860000	0.86993	1.177000	0.42855	0.586000	0.80456	CAG	CPAMD8	-	pfam_A2M_N_2		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	G	NM_015692		17088210	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CRAMP1L	57585	genome.wustl.edu	37	16	1718140	1718140	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:1718140G>A	ENST00000397412.3	+	18	3379	c.3280G>A	c.(3280-3282)Gcc>Acc	p.A1094T	CRAMP1L_ENST00000262317.4_Missense_Mutation_p.A472T|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.A1091T|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.A1094T|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1094	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GGGCGAGCCTGCCACACACAT	0.617																																																	0													65.0	67.0	66.0					16																	1718140		2168	4267	6435	SO:0001583	missense	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3280G>A	16.37:g.1718140G>A	ENSP00000380559:p.Ala1094Thr		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.A1094T	ENST00000397412.3	37	c.3280	CCDS10440.2	16	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384335	0.42308	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	5.44	2.08	0.27032	.	0.269957	0.37809	N	0.001921	T	0.20170	0.0485	L	0.27053	0.805	0.28204	N	0.927218	P	0.42296	0.775	B	0.36666	0.23	T	0.08764	-1.0706	9	0.33141	T	0.24	-21.0815	7.6723	0.28465	0.1431:0.0:0.6412:0.2157	.	1094	Q96RY5	CRML_HUMAN	T	1094;1094;1091;472	.	ENSP00000262317:A472T	A	+	1	0	CRAMP1L	1658141	1.000000	0.71417	0.831000	0.32960	0.226000	0.24999	3.738000	0.55067	0.683000	0.31428	-0.142000	0.14014	GCC	CRAMP1L	-	NULL		0.617	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	G			1718140	+1	no_errors	ENST00000293925	ensembl	human	known	70_37	missense	SNP	0.560	A
CRB2	286204	genome.wustl.edu	37	9	126132812	126132812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:126132812C>T	ENST00000373631.3	+	7	1481	c.1480C>T	c.(1480-1482)Cag>Tag	p.Q494*	CRB2_ENST00000373629.2_Nonsense_Mutation_p.Q162*|CRB2_ENST00000359999.3_Nonsense_Mutation_p.Q494*	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	494	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGCCACACTTCAGGCCACACT	0.597																																																	0													70.0	57.0	61.0					9																	126132812		2203	4300	6503	SO:0001587	stop_gained	286204			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1480C>T	9.37:g.126132812C>T	ENSP00000362734:p.Gln494*		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q494*	ENST00000373631.3	37	c.1480	CCDS6852.2	9	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891873	0.72524	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	.	.	.	4.94	3.82	0.43975	.	0.621973	0.13372	N	0.392815	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	14.1388	0.65306	0.0:0.9139:0.0:0.0861	.	.	.	.	X	494;494;162	.	ENSP00000353092:Q494X	Q	+	1	0	CRB2	125172633	1.000000	0.71417	0.718000	0.30602	0.521000	0.34408	5.436000	0.66538	2.297000	0.77311	0.448000	0.29417	CAG	CRB2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.597	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB2	HGNC	protein_coding	OTTHUMT00000053990.3	C	NM_173689		126132812	+1	no_errors	ENST00000373631	ensembl	human	known	70_37	nonsense	SNP	0.786	T
CREB1	1385	genome.wustl.edu	37	2	208462088	208462088	+	3'UTR	SNP	G	G	A	rs552416399		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:208462088G>A	ENST00000432329.2	+	0	1583				CREB1_ENST00000353267.3_3'UTR|CREB1_ENST00000374397.4_3'UTR|CREB1_ENST00000430624.1_3'UTR|CREB1_ENST00000451164.1_3'UTR|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1						activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	TGGGAGAAATGAGGAAAAGAA	0.383			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																			Dom	yes		2	2q34	1385	cAMP responsive element binding protein 1		M	0																																										SO:0001624	3_prime_UTR_variant	1385			M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.*306G>A	2.37:g.208462088G>A			P21934|Q6V963|Q9UMA7	RNA	SNP	-	NULL	ENST00000432329.2	37	NULL	CCDS2375.1	2																																																																																			CREB1	-	-		0.383	CREB1-001	KNOWN	basic|CCDS	protein_coding	CREB1	HGNC	protein_coding	OTTHUMT00000256467.3	G	NM_134442		208462088	+1	no_errors	ENST00000494983	ensembl	human	known	70_37	rna	SNP	1.000	A
CRHR1	1394	genome.wustl.edu	37	17	43713847	43713847	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:43713847C>T	ENST00000293493.7	+	2	396				RP11-105N13.4_ENST00000587305.1_RNA|CRHR1_ENST00000339069.5_Intron|CRHR1-IT1_ENST00000455565.1_RNA	NM_001256299.1	NP_001243228.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1						activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GTGGCCACATCAGCTAGCCTC	0.502																																					Ovarian(110;57 1568 10207 38216 49865)												0																																										SO:0001627	intron_variant	147081			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000293493.7:c.-493+6323C>T	17.37:g.43713847C>T			B4DIE9|Q13008|Q4QRJ1|Q9UK64	RNA	SNP	-	NULL	ENST00000293493.7	37	NULL	CCDS58556.1	17																																																																																			CRHR1-IT1	-	-		0.502	CRHR1-201	KNOWN	basic|CCDS	protein_coding	CRHR1-IT1	HGNC	protein_coding		C			43713847	+1	no_errors	ENST00000455565	ensembl	human	known	70_37	rna	SNP	0.104	T
CROT	54677	genome.wustl.edu	37	7	87022372	87022372	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:87022372C>G	ENST00000331536.3	+	17	1892	c.1707C>G	c.(1705-1707)atC>atG	p.I569M	CROT_ENST00000442291.1_Missense_Mutation_p.I569M|CROT_ENST00000419147.2_Missense_Mutation_p.I597M	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	569					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TCTACCATATCAGAGATGACA	0.383																																																	0													184.0	182.0	183.0					7																	87022372		2203	4300	6503	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1707C>G	7.37:g.87022372C>G	ENSP00000331981:p.Ile569Met		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.I569M	ENST00000331536.3	37	c.1707	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859275	0.51376	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90955	-2.76;-2.76;-2.76	6.17	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.93906	0.8050	M	0.82056	2.57	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93103	0.6510	10	0.56958	D	0.05	-6.8135	5.786	0.18333	0.2471:0.5754:0.0:0.1775	.	597;569	E7EQF2;Q9UKG9	.;OCTC_HUMAN	M	597;569;569	ENSP00000413575:I597M;ENSP00000331981:I569M;ENSP00000411983:I569M	ENSP00000331981:I569M	I	+	3	3	CROT	86860308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.270000	0.33086	1.616000	0.50265	0.655000	0.94253	ATC	CROT	-	pfam_Carn_acyl_trans		0.383	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	C	NM_021151		87022372	+1	no_errors	ENST00000331536	ensembl	human	known	70_37	missense	SNP	1.000	G
CSMD1	64478	genome.wustl.edu	37	8	2836248	2836248	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:2836248C>G	ENST00000520002.1	-	56	9010	c.8455G>C	c.(8455-8457)Gag>Cag	p.E2819Q	CSMD1_ENST00000400186.3_Missense_Mutation_p.E2761Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2761Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2760Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2819Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2818Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2819	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTCCATACTCAAAACTCTCA	0.448																																																	0													81.0	74.0	76.0					8																	2836248		1879	4113	5992	SO:0001583	missense	64478					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.8455G>C	8.37:g.2836248C>G	ENSP00000430733:p.Glu2819Gln		Q0H0J5|Q96QU9|Q96RM4	Missense_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.E2819Q	ENST00000520002.1	37	c.8455		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.47|11.47	1.649705|1.649705	0.29336|0.29336	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.63913|.	-0.07;-0.07;-0.07;-0.07|.	5.08|5.08	1.76|1.76	0.24704|0.24704	Complement control module (2);Sushi/SCR/CCP (3);|.	0.184734|.	0.46442|.	D|.	0.000297|.	T|.	0.33469|.	0.0864|.	N|N	0.20483|0.20483	0.58|0.58	0.80722|0.80722	D|D	1|1	D;B;B|.	0.63880|.	0.993;0.019;0.409|.	P;B;B|.	0.60415|.	0.874;0.102;0.211|.	T|.	0.06320|.	-1.0833|.	10|.	0.13470|.	T|.	0.59|.	.|.	2.7111|2.7111	0.05175|0.05175	0.0:0.3047:0.2548:0.4404|0.0:0.3047:0.2548:0.4404	.|.	2819;2819;2760|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	Q|S	2761;2819;2680;2818;2760|2235	ENSP00000383047:E2761Q;ENSP00000430733:E2819Q;ENSP00000441462:E2818Q;ENSP00000446243:E2760Q|.	ENSP00000320445:E2680Q|.	E|X	-|-	1|2	0|2	CSMD1|CSMD1	2823655|2823655	1.000000|1.000000	0.71417|0.71417	0.651000|0.651000	0.29564|0.29564	0.390000|0.390000	0.30446|0.30446	3.735000|3.735000	0.55044|0.55044	0.514000|0.514000	0.28300|0.28300	0.563000|0.563000	0.77884|0.77884	GAG|TGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.448	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		2836248	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	G
CSTF3	1479	genome.wustl.edu	37	11	33163446	33163446	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:33163446G>C	ENST00000323959.4	-	2	253	c.114C>G	c.(112-114)ctC>ctG	p.L38L	CSTF3_ENST00000438862.2_Silent_p.L38L|CSTF3_ENST00000431742.2_Silent_p.L38L|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000524827.1_Silent_p.L70L	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	38					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CCTCTCGAATGAGAATGCTCC	0.398																																																	0													167.0	157.0	160.0					11																	33163446		2202	4298	6500	SO:0001819	synonymous_variant	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.114C>G	11.37:g.33163446G>C			A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Silent	SNP	pfam_Suf,smart_HAT	p.L38	ENST00000323959.4	37	c.114	CCDS7883.1	11																																																																																			CSTF3	-	NULL		0.398	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	G	NM_001326		33163446	-1	no_errors	ENST00000323959	ensembl	human	known	70_37	silent	SNP	1.000	C
CST6	1474	genome.wustl.edu	37	11	65780823	65780823	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:65780823C>T	ENST00000312134.2	+	3	606	c.402C>T	c.(400-402)ccC>ccT	p.P134P		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	134					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TTGTGGTTCCCTGGCAGAACT	0.587																																																	0													201.0	156.0	172.0					11																	65780823		2201	4296	6497	SO:0001819	synonymous_variant	1474			U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.402C>T	11.37:g.65780823C>T			Q540N7	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.P134	ENST00000312134.2	37	c.402	CCDS8126.1	11																																																																																			CST6	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.587	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST6	HGNC	protein_coding	OTTHUMT00000391348.1	C	NM_001323		65780823	+1	no_errors	ENST00000312134	ensembl	human	known	70_37	silent	SNP	0.998	T
CTTNBP2	83992	genome.wustl.edu	37	7	117432046	117432046	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:117432046G>A	ENST00000160373.3	-	4	1295	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	402	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCGTTACTGGGAAGTGGGGGT	0.527																																																	0													191.0	165.0	174.0					7																	117432046		2203	4300	6503	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1204C>T	7.37:g.117432046G>A	ENSP00000160373:p.Pro402Ser		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P402S	ENST00000160373.3	37	c.1204	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.654751	0.00779	.	.	ENSG00000077063	ENST00000160373	T	0.69685	-0.42	4.78	4.78	0.61160	.	0.086759	0.49305	D	0.000148	T	0.57242	0.2040	M	0.63169	1.94	0.40521	D	0.980831	B	0.32693	0.38	B	0.25759	0.063	T	0.54748	-0.8247	10	0.12766	T	0.61	-0.7988	12.2467	0.54574	0.09:0.0:0.91:0.0	.	402	Q8WZ74	CTTB2_HUMAN	S	402	ENSP00000160373:P402S	ENSP00000160373:P402S	P	-	1	0	CTTNBP2	117219282	1.000000	0.71417	0.174000	0.22961	0.004000	0.04260	3.761000	0.55242	2.633000	0.89246	0.650000	0.86243	CCC	CTTNBP2	-	NULL		0.527	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	G	NM_033427		117432046	-1	no_errors	ENST00000160373	ensembl	human	known	70_37	missense	SNP	0.752	A
CUBN	8029	genome.wustl.edu	37	10	17126293	17126293	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:17126293C>T	ENST00000377833.4	-	17	2343	c.2278G>A	c.(2278-2280)Gac>Aac	p.D760N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	760	CUB 3. {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)	TGAGAACTGTCACTCTGGCAT	0.433																																																	0													163.0	152.0	155.0					10																	17126293		2203	4300	6503	SO:0001583	missense	8029			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.2278G>A	10.37:g.17126293C>T	ENSP00000367064:p.Asp760Asn		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.D760N	ENST00000377833.4	37	c.2278	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	0.877	-0.730147	0.03135	.	.	ENSG00000107611	ENST00000377833	T	0.17528	2.27	5.69	2.65	0.31530	CUB (5);	0.695284	0.12543	N	0.459701	T	0.07954	0.0199	N	0.04746	-0.17	0.40098	D	0.976333	B	0.11235	0.004	B	0.13407	0.009	T	0.20042	-1.0287	10	0.11485	T	0.65	.	10.6695	0.45749	0.0:0.7477:0.1202:0.132	.	760	O60494	CUBN_HUMAN	N	760	ENSP00000367064:D760N	ENSP00000367064:D760N	D	-	1	0	CUBN	17166299	0.037000	0.19845	0.033000	0.17914	0.025000	0.11179	0.553000	0.23391	0.763000	0.33175	0.655000	0.94253	GAC	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		17126293	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	0.277	T
CUL1	8454	genome.wustl.edu	37	7	148457536	148457536	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:148457536G>C	ENST00000325222.4	+	7	1016	c.737G>C	c.(736-738)aGa>aCa	p.R246T	CUL1_ENST00000409469.1_Missense_Mutation_p.R246T|CUL1_ENST00000602748.1_Missense_Mutation_p.R246T	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	246					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTTTATACCAGAGAGAGTACT	0.348																																																	0													123.0	140.0	134.0					7																	148457536		2203	4300	6503	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.737G>C	7.37:g.148457536G>C	ENSP00000326804:p.Arg246Thr		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R246T	ENST00000325222.4	37	c.737	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947998	0.34377	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.73363	-0.74;-0.74	4.84	4.84	0.62591	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	L	0.35723	1.085	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.60120	-0.7325	10	0.13470	T	0.59	-1.8663	17.2933	0.87163	0.0:0.0:1.0:0.0	.	246	Q13616	CUL1_HUMAN	T	246;246;204;173	ENSP00000387160:R246T;ENSP00000326804:R246T	ENSP00000326804:R246T	R	+	2	0	CUL1	148088469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.993000	0.93524	2.377000	0.81083	0.585000	0.79938	AGA	CUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.348	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148457536	+1	no_errors	ENST00000325222	ensembl	human	known	70_37	missense	SNP	1.000	C
CUL3	8452	genome.wustl.edu	37	2	225365091	225365091	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:225365091C>T	ENST00000264414.4	-	11	1937	c.1599G>A	c.(1597-1599)gaG>gaA	p.E533E	CUL3_ENST00000344951.4_Silent_p.E467E|CUL3_ENST00000409777.1_Silent_p.E509E|CUL3_ENST00000409096.1_Silent_p.E509E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	533					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCTGAATATCTCAAAAGCAT	0.403																																																	0													195.0	178.0	183.0					2																	225365091		2203	4300	6503	SO:0001819	synonymous_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1599G>A	2.37:g.225365091C>T			A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E533	ENST00000264414.4	37	c.1599	CCDS2462.1	2																																																																																			CUL3	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.403	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	C			225365091	-1	no_errors	ENST00000264414	ensembl	human	known	70_37	silent	SNP	1.000	T
ZMYND15	84225	genome.wustl.edu	37	17	4642687	4642687	+	5'Flank	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:4642687G>C	ENST00000433935.1	+	0	0				ZMYND15_ENST00000269289.6_5'Flank|ZMYND15_ENST00000592813.1_5'Flank|CXCL16_ENST00000574412.1_Missense_Mutation_p.S2C|ZMYND15_ENST00000573751.2_5'Flank|CXCL16_ENST00000293778.6_Missense_Mutation_p.S2C	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15						negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTGACTCCCAGACATGCTCCG	0.711																																																	0													22.0	27.0	25.0					17																	4642687		2203	4299	6502	SO:0001631	upstream_gene_variant	58191			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760		17.37:g.4642687G>C	Exception_encountered		B4DXY5|I3L296	Missense_Mutation	SNP	NULL	p.S2C	ENST00000433935.1	37	c.5	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	G	8.145	0.786076	0.16189	.	.	ENSG00000161921	ENST00000293778	T	0.34859	1.34	2.47	1.45	0.22620	.	.	.	.	.	T	0.31670	0.0804	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22452	-1.0216	6	0.40728	T	0.16	2.7632	7.0966	0.25313	0.0:0.2825:0.7175:0.0	.	.	.	.	C	2	ENSP00000293778:S2C	ENSP00000293778:S2C	S	-	2	0	CXCL16	4589436	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.386000	0.07370	0.575000	0.29434	-0.315000	0.08773	TCT	CXCL16	-	NULL		0.711	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL16	HGNC	protein_coding	OTTHUMT00000439580.1	G	NM_032265		4642687	-1	no_errors	ENST00000293778	ensembl	human	known	70_37	missense	SNP	0.000	C
CXCR2P1	3580	genome.wustl.edu	37	2	218924813	218924813	+	RNA	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:218924813G>T	ENST00000439871.1	-	0	1567					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		AGAGTGCCATGAGCTCAAGGG	0.438																																																	0																																												3580			M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218924813G>T				RNA	SNP	-	NULL	ENST00000439871.1	37	NULL		2																																																																																			CXCR2P1	-	-		0.438	CXCR2P1-002	KNOWN	basic	processed_transcript	CXCR2P1	HGNC	pseudogene	OTTHUMT00000338985.1	G	NR_002712		218924813	-1	no_errors	ENST00000439871	ensembl	human	known	70_37	rna	SNP	0.002	T
CYBB	1536	genome.wustl.edu	37	X	37642818	37642818	+	Nonsense_Mutation	SNP	C	C	T	rs137854588		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:37642818C>T	ENST00000378588.4	+	3	284	c.217C>T	c.(217-219)Cga>Tga	p.R73*	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Nonsense_Mutation_p.R41*|CYBB_ENST00000536160.1_5'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	73	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GCCAGTCTGTCGAAATCTGCT	0.498																																																	0			GRCh37	CM910097	CYBB	M	rs137854588						96.0	77.0	83.0					X																	37642818		2202	4300	6502	SO:0001587	stop_gained	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.217C>T	X.37:g.37642818C>T	ENSP00000367851:p.Arg73*		A8K138|Q2PP16	Nonsense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.R73*	ENST00000378588.4	37	c.217	CCDS14242.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.742388	0.96873	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	.	.	.	5.16	3.29	0.37713	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3613	0.55205	0.3045:0.6955:0.0:0.0	.	.	.	.	X	73;41	.	ENSP00000367851:R73X	R	+	1	2	CYBB	37527762	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.650000	0.46665	0.934000	0.37316	0.415000	0.27848	CGA	CYBB	-	pfam_Fe3_Rdtase_TM_dom		0.498	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	C			37642818	+1	no_errors	ENST00000378588	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CYHR1	50626	genome.wustl.edu	37	8	145690218	145690218	+	Missense_Mutation	SNP	G	G	C	rs200023926|rs370100015		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:145690218G>C	ENST00000438911.2	-	1	200	c.67C>G	c.(67-69)Ctg>Gtg	p.L23V	KIFC2_ENST00000301331.5_5'Flank|CYHR1_ENST00000530374.1_5'Flank|CYHR1_ENST00000424149.2_Missense_Mutation_p.L23V|CTD-2517M22.16_ENST00000525461.1_RNA|KIFC2_ENST00000301332.2_5'Flank|CYHR1_ENST00000403000.2_Missense_Mutation_p.L23V|CYHR1_ENST00000306145.5_Missense_Mutation_p.L23V	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	23						cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCTGCGTGCAGAGACACCACT	0.632																																																	0													39.0	40.0	39.0					8																	145690218		2201	4298	6499	SO:0001583	missense	50626			AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"""cysteine and histidine rich 1"""			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.67C>G	8.37:g.145690218G>C	ENSP00000387426:p.Leu23Val		B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Missense_Mutation	SNP	superfamily_TRAF-like,pfscan_Znf_TRAF	p.L23V	ENST00000438911.2	37	c.67	CCDS47943.1	8	.	.	.	.	.	.	.	.	.	.	g	19.28	3.798062	0.70567	.	.	ENSG00000187954	ENST00000438911;ENST00000526887;ENST00000403000;ENST00000424149;ENST00000306145;ENST00000533764;ENST00000530637	T;T;T;T;T;T;T	0.75260	1.04;-0.92;1.04;1.04;1.04;1.04;1.04	4.44	4.44	0.53790	.	0.000000	0.44483	U	0.000455	T	0.79969	0.4538	L	0.39898	1.24	0.24361	N	0.994877	D;P	0.67145	0.996;0.88	D;P	0.79108	0.992;0.899	T	0.72100	-0.4392	10	0.87932	D	0	-2.8771	12.9268	0.58264	0.0:0.0:1.0:0.0	.	23;23	Q6ZMK1-3;Q6ZMK1	.;CYHR1_HUMAN	V	23	ENSP00000387426:L23V;ENSP00000434470:L23V;ENSP00000385962:L23V;ENSP00000414647:L23V;ENSP00000304826:L23V;ENSP00000432902:L23V;ENSP00000434642:L23V	ENSP00000304826:L23V	L	-	1	2	CYHR1	145661026	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.096000	0.41738	2.190000	0.69967	0.556000	0.70494	CTG	CYHR1	-	NULL		0.632	CYHR1-001	KNOWN	basic|CCDS	protein_coding	CYHR1	HGNC	protein_coding	OTTHUMT00000382438.1	G	NM_032687		145690218	-1	no_errors	ENST00000438911	ensembl	human	known	70_37	missense	SNP	1.000	C
CYP2E1	1571	genome.wustl.edu	37	10	135352373	135352373	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:135352373C>G	ENST00000463117.2	+	11	1659	c.1387C>G	c.(1387-1389)Ctc>Gtc	p.L463V	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.L463V			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	463					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTGAAGCCTCTCGTTGACCC	0.468									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													233.0	189.0	204.0					10																	135352373		2203	4300	6503	SO:0001583	missense	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1387C>G	10.37:g.135352373C>G	ENSP00000440689:p.Leu463Val		Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L463V	ENST00000463117.2	37	c.1387	CCDS7686.1	10	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186581	0.21870	.	.	ENSG00000130649	ENST00000463117;ENST00000252945	T;T	0.69175	-0.38;-0.38	5.1	2.0	0.26442	.	0.455963	0.23270	N	0.050039	T	0.56262	0.1973	N	0.03983	-0.305	0.09310	N	1	D	0.63046	0.992	D	0.72338	0.977	T	0.49925	-0.8887	10	0.25106	T	0.35	.	8.8678	0.35298	0.0:0.6346:0.2826:0.0828	.	463	P05181	CP2E1_HUMAN	V	463	ENSP00000440689:L463V;ENSP00000252945:L463V	ENSP00000252945:L463V	L	+	1	0	CYP2E1	135202363	0.000000	0.05858	0.054000	0.19295	0.218000	0.24690	-0.045000	0.12003	0.829000	0.34733	0.561000	0.74099	CTC	CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.468	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	C	NM_000773		135352373	+1	no_errors	ENST00000252945	ensembl	human	known	70_37	missense	SNP	0.230	G
CYP2F1	1572	genome.wustl.edu	37	19	41627918	41627918	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:41627918C>T	ENST00000331105.2	+	6	774	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	234					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACCAACGCATCTTCCAGAACT	0.602																																																	0													62.0	64.0	63.0					19																	41627918		2202	4299	6501	SO:0001819	synonymous_variant	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.702C>T	19.37:g.41627918C>T			A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.I234	ENST00000331105.2	37	c.702	CCDS12572.1	19																																																																																			CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.602	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	C			41627918	+1	no_errors	ENST00000331105	ensembl	human	known	70_37	silent	SNP	0.195	T
CYP2F1	1572	genome.wustl.edu	37	19	41627930	41627930	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:41627930C>T	ENST00000331105.2	+	6	786	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	238					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TCCAGAACTTCAAGTGCCTGA	0.597																																																	0													55.0	55.0	55.0					19																	41627930		2202	4299	6501	SO:0001819	synonymous_variant	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.714C>T	19.37:g.41627930C>T			A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F238	ENST00000331105.2	37	c.714	CCDS12572.1	19																																																																																			CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.597	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	C			41627930	+1	no_errors	ENST00000331105	ensembl	human	known	70_37	silent	SNP	0.000	T
CYP4B1	1580	genome.wustl.edu	37	1	47278271	47278271	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:47278271C>T	ENST00000271153.4	+	4	507	c.471C>T	c.(469-471)ttC>ttT	p.F157F	CYP4B1_ENST00000371919.4_Silent_p.F142F|CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371923.4_Silent_p.F157F			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	157					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TGGCCGTGTTCACTGAGTCTA	0.577																																																	0													164.0	136.0	146.0					1																	47278271		2203	4300	6503	SO:0001819	synonymous_variant	1580			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.471C>T	1.37:g.47278271C>T			Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F157	ENST00000271153.4	37	c.471	CCDS542.1	1																																																																																			CYP4B1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.577	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	HGNC	protein_coding	OTTHUMT00000021911.1	C	NM_000779		47278271	+1	no_errors	ENST00000371923	ensembl	human	known	70_37	silent	SNP	0.000	T
CYTH2	9266	genome.wustl.edu	37	19	48981704	48981704	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:48981704G>C	ENST00000452733.2	+	11	1443	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	CTC-273B12.8_ENST00000599877.1_lincRNA|CYTH2_ENST00000427476.1_Missense_Mutation_p.E324Q			Q99418	CYH2_HUMAN	cytohesin 2	324	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAACTGCTTTGAACTTTACAT	0.587																																																	0													94.0	91.0	92.0					19																	48981704		2203	4300	6503	SO:0001583	missense	9266			X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.967G>C	19.37:g.48981704G>C	ENSP00000408236:p.Glu323Gln		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.E324Q	ENST00000452733.2	37	c.970	CCDS12722.1	19	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893100	0.91889	.	.	ENSG00000105443	ENST00000452733;ENST00000427476	T;T	0.75589	-0.95;-0.95	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	M	0.68728	2.09	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85855	0.1406	10	0.72032	D	0.01	.	15.356	0.74428	0.0:0.0:1.0:0.0	.	323	Q99418-2	.	Q	323;324	ENSP00000408236:E323Q;ENSP00000391648:E324Q	ENSP00000391648:E324Q	E	+	1	0	CYTH2	53673516	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	9.648000	0.98483	2.553000	0.86117	0.655000	0.94253	GAA	CYTH2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.587	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYTH2	HGNC	protein_coding	OTTHUMT00000317060.1	G	NM_004228		48981704	+1	no_errors	ENST00000427476	ensembl	human	known	70_37	missense	SNP	1.000	C
DAAM2	23500	genome.wustl.edu	37	6	39847006	39847006	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:39847006C>T	ENST00000398904.2	+	14	1780	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	DAAM2_ENST00000274867.4_Missense_Mutation_p.S533F|DAAM2_ENST00000538976.1_Missense_Mutation_p.S533F|RP11-61I13.3_ENST00000607675.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	533	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACCTTGTCTTCCTCAATGACA	0.612																																																	0													26.0	29.0	28.0					6																	39847006		1771	3858	5629	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1598C>T	6.37:g.39847006C>T	ENSP00000381876:p.Ser533Phe		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.S533F	ENST00000398904.2	37	c.1598	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868856	0.51588	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.26810	1.71;1.71;1.71	4.15	4.15	0.48705	.	0.445732	0.20754	N	0.086287	T	0.10895	0.0266	L	0.29908	0.895	0.80722	D	1	B;B	0.32467	0.372;0.255	B;B	0.27170	0.077;0.035	T	0.08617	-1.0713	10	0.59425	D	0.04	.	16.1828	0.81921	0.0:1.0:0.0:0.0	.	533;533	G5EA45;Q86T65	.;DAAM2_HUMAN	F	533	ENSP00000274867:S533F;ENSP00000381876:S533F;ENSP00000437808:S533F	ENSP00000274867:S533F	S	+	2	0	DAAM2	39954984	0.994000	0.37717	0.997000	0.53966	0.740000	0.42216	3.203000	0.51075	2.125000	0.65367	0.305000	0.20034	TCC	DAAM2	-	NULL		0.612	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	C			39847006	+1	no_errors	ENST00000274867	ensembl	human	known	70_37	missense	SNP	0.950	T
DAAM2	23500	genome.wustl.edu	37	6	39856471	39856471	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:39856471G>A	ENST00000398904.2	+	17	2259	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.E693K|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.E693K|RP11-61I13.3_ENST00000607675.1_RNA|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	693	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCTTTCTAACGAGGAGATCCG	0.547																																																	0													99.0	101.0	101.0					6																	39856471		2016	4170	6186	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2077G>A	6.37:g.39856471G>A	ENSP00000381876:p.Glu693Lys		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E693K	ENST00000398904.2	37	c.2077	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.585281	0.96578	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.18657	2.2;2.2;2.2	5.59	5.59	0.84812	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.186921	0.45867	D	0.000332	T	0.26011	0.0634	M	0.76938	2.355	0.80722	D	1	B;P	0.47910	0.048;0.902	B;P	0.45946	0.005;0.498	T	0.04481	-1.0948	10	0.52906	T	0.07	.	18.3612	0.90375	0.0:0.0:1.0:0.0	.	693;693	G5EA45;Q86T65	.;DAAM2_HUMAN	K	693	ENSP00000274867:E693K;ENSP00000381876:E693K;ENSP00000437808:E693K	ENSP00000274867:E693K	E	+	1	0	DAAM2	39964449	1.000000	0.71417	0.986000	0.45419	0.977000	0.68977	9.548000	0.98103	2.635000	0.89317	0.655000	0.94253	GAG	DAAM2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.547	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	G			39856471	+1	no_errors	ENST00000274867	ensembl	human	known	70_37	missense	SNP	1.000	A
DACH2	117154	genome.wustl.edu	37	X	85404062	85404062	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:85404062C>G	ENST00000373125.4	+	1	438	c.438C>G	c.(436-438)ctC>ctG	p.L146L	DACH2_ENST00000373131.1_Silent_p.L146L	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	146	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GCTGCAAACTCATCACCAGGA	0.557																																																	0													48.0	49.0	49.0					X																	85404062		2203	4300	6503	SO:0001819	synonymous_variant	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.438C>G	X.37:g.85404062C>G			B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.L146	ENST00000373125.4	37	c.438	CCDS14455.1	X																																																																																			DACH2	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put		0.557	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	C	NM_053281		85404062	+1	no_errors	ENST00000373125	ensembl	human	known	70_37	silent	SNP	1.000	G
DAP3	7818	genome.wustl.edu	37	1	155701230	155701230	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:155701230C>T	ENST00000368336.5	+	10	1027				DAP3_ENST00000471642.2_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Intron|DAP3_ENST00000535183.1_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3						apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ATACCTCACACATTTCAGAAA	0.328																																																	0													102.0	98.0	99.0					1																	155701230		2203	4300	6503	SO:0001627	intron_variant	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.903+24C>T	1.37:g.155701230C>T			B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	RNA	SNP	-	NULL	ENST00000368336.5	37	NULL	CCDS1120.1	1																																																																																			DAP3	-	-		0.328	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	C	NM_004632		155701230	+1	no_errors	ENST00000497433	ensembl	human	known	70_37	rna	SNP	0.000	T
DBNDD1	79007	genome.wustl.edu	37	16	90075276	90075276	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:90075276C>T	ENST00000002501.6	-	3	366	c.235G>A	c.(235-237)Gag>Aag	p.E79K	DBNDD1_ENST00000304733.3_Missense_Mutation_p.E99K|DBNDD1_ENST00000568838.1_Missense_Mutation_p.E199K|DBNDD1_ENST00000392973.3_Missense_Mutation_p.E85K	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	79						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCGGTGAGCTCAGTGAGGTCC	0.632																																																	0													33.0	37.0	35.0					16																	90075276		2009	4159	6168	SO:0001583	missense	79007			AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.235G>A	16.37:g.90075276C>T	ENSP00000002501:p.Glu79Lys		B4DQS3|Q69YT2|Q9BW25	Missense_Mutation	SNP	pfam_Dysbindin	p.E199K	ENST00000002501.6	37	c.595	CCDS42223.1	16	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434905	0.83885	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	T;T	0.45276	0.9;0.9	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.68622	-0.5360	9	.	.	.	-34.2443	18.8051	0.92034	0.0:1.0:0.0:0.0	.	79;99	Q9H9R9;Q9H9R9-2	DBND1_HUMAN;.	K	99;79;199	ENSP00000306407:E99K;ENSP00000002501:E79K	.	E	-	1	0	DBNDD1	88602777	1.000000	0.71417	0.964000	0.40570	0.191000	0.23601	7.436000	0.80404	2.462000	0.83206	0.313000	0.20887	GAG	DBNDD1	-	pfam_Dysbindin		0.632	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBNDD1	HGNC	protein_coding	OTTHUMT00000272872.1	C	NM_024043		90075276	-1	no_errors	ENST00000568838	ensembl	human	known	70_37	missense	SNP	1.000	T
DDO	8528	genome.wustl.edu	37	6	110714274	110714274	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:110714274G>A	ENST00000368924.3	-	5	829	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	DDO_ENST00000368923.3_Silent_p.L213L	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	244					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.L272M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TCCGGGGACAGATTCCAGTCC	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											138.0	147.0	144.0					6																	110714274		2203	4300	6503	SO:0001819	synonymous_variant	8528			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.814C>T	6.37:g.110714274G>A			A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	pfam_FAD-dep_OxRdtase	p.L272	ENST00000368924.3	37	c.814	CCDS5082.1	6																																																																																			DDO	-	pfam_FAD-dep_OxRdtase		0.522	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDO	HGNC	protein_coding	OTTHUMT00000041796.1	G			110714274	-1	no_errors	ENST00000368924	ensembl	human	known	70_37	silent	SNP	0.825	A
DDX23	9416	genome.wustl.edu	37	12	49224420	49224420	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:49224420G>A	ENST00000308025.3	-	17	2374	c.2295C>T	c.(2293-2295)atC>atT	p.I765I		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	765	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGAGGAAGGTGATGGCCACCC	0.572																																																	0													119.0	102.0	108.0					12																	49224420		2203	4300	6503	SO:0001819	synonymous_variant	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.2295C>T	12.37:g.49224420G>A			B2R600|B4DH15|O43188	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.I765	ENST00000308025.3	37	c.2295	CCDS8770.1	12																																																																																			DDX23	-	pfscan_Helicase_C		0.572	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	G	NM_004818		49224420	-1	no_errors	ENST00000308025	ensembl	human	known	70_37	silent	SNP	1.000	A
DDX26B	203522	genome.wustl.edu	37	X	134713952	134713952	+	Missense_Mutation	SNP	G	G	C	rs527897696		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:134713952G>C	ENST00000370752.4	+	15	2582	c.2248G>C	c.(2248-2250)Gat>Cat	p.D750H	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	750										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCTCCGTAGATGACCAAAA	0.428																																																	0													91.0	78.0	82.0					X																	134713952		2203	4300	6503	SO:0001583	missense	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2248G>C	X.37:g.134713952G>C	ENSP00000359788:p.Asp750His		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.D750H	ENST00000370752.4	37	c.2248	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	G	3.049	-0.195814	0.06259	.	.	ENSG00000165359	ENST00000370752	T	0.32023	1.47	5.51	3.65	0.41850	.	0.719592	0.14714	N	0.302746	T	0.26340	0.0643	L	0.45137	1.4	0.25501	N	0.98755	B;B	0.32101	0.356;0.0	B;B	0.32624	0.149;0.002	T	0.12528	-1.0544	10	0.38643	T	0.18	0.0096	10.2436	0.43328	0.0791:0.1327:0.7883:0.0	.	750;750	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	H	750	ENSP00000359788:D750H	ENSP00000359788:D750H	D	+	1	0	DDX26B	134541618	0.994000	0.37717	0.028000	0.17463	0.002000	0.02628	2.406000	0.44557	1.226000	0.43582	0.600000	0.82982	GAT	DDX26B	-	NULL		0.428	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	G	NM_182540		134713952	+1	no_errors	ENST00000370752	ensembl	human	known	70_37	missense	SNP	0.818	C
DDX28	55794	genome.wustl.edu	37	16	68057070	68057070	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:68057070G>C	ENST00000332395.5	-	1	700	c.36C>G	c.(34-36)ctC>ctG	p.L12L	DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000565263.1_5'UTR|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	12						mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		ACCGAGTCACGAGGGAAAAGA	0.677																																																	0													17.0	18.0	17.0					16																	68057070		2135	4170	6305	SO:0001819	synonymous_variant	55794			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.36C>G	16.37:g.68057070G>C				Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L12	ENST00000332395.5	37	c.36	CCDS10858.1	16																																																																																			DDX28	-	NULL		0.677	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	HGNC	protein_coding	OTTHUMT00000268883.1	G	NM_018380		68057070	-1	no_errors	ENST00000332395	ensembl	human	known	70_37	silent	SNP	0.000	C
DDX41	51428	genome.wustl.edu	37	5	176942307	176942307	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:176942307C>G	ENST00000507955.1	-	7	1095				DDX41_ENST00000506965.1_Intron	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41						apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ggtactttctcagagccccaa	0.463																																																	0													88.0	73.0	78.0					5																	176942307		2203	4300	6503	SO:0001627	intron_variant	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.572-48G>C	5.37:g.176942307C>G			B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Nonstop_Mutation	SNP	NULL	p.*202S	ENST00000507955.1	37	c.605	CCDS4427.1	5																																																																																			DDX41	-	NULL		0.463	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	C	NM_016222		176942307	-1	no_errors	ENST00000509576	ensembl	human	known	70_37	nonstop	SNP	0.000	G
DGAT2L6	347516	genome.wustl.edu	37	X	69420191	69420191	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:69420191C>G	ENST00000333026.3	+	4	454	c.354C>G	c.(352-354)atC>atG	p.I118M		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	118					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GTGTCTTCATCAACTTTGCCA	0.463																																																	0													191.0	140.0	157.0					X																	69420191		2203	4300	6503	SO:0001583	missense	347516			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.354C>G	X.37:g.69420191C>G	ENSP00000328036:p.Ile118Met		Q6IEE2	Missense_Mutation	SNP	pfam_DAGAT	p.I118M	ENST00000333026.3	37	c.354	CCDS14397.1	X	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267872	0.59540	.	.	ENSG00000184210	ENST00000333026	D	0.94497	-3.44	5.35	2.64	0.31445	.	0.153864	0.44902	D	0.000415	D	0.93403	0.7896	L	0.49640	1.575	0.39382	D	0.966269	P	0.48834	0.916	P	0.54270	0.747	D	0.90045	0.4145	10	0.38643	T	0.18	-6.4929	6.6869	0.23150	0.0:0.614:0.0:0.386	.	118	Q6ZPD8	DG2L6_HUMAN	M	118	ENSP00000328036:I118M	ENSP00000328036:I118M	I	+	3	3	DGAT2L6	69336916	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.284000	0.33249	0.242000	0.21303	0.600000	0.82982	ATC	DGAT2L6	-	pfam_DAGAT		0.463	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2L6	HGNC	protein_coding	OTTHUMT00000057067.1	C	NM_198512		69420191	+1	no_errors	ENST00000333026	ensembl	human	known	70_37	missense	SNP	1.000	G
DGCR14	8220	genome.wustl.edu	37	22	19121936	19121936	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:19121936C>T	ENST00000252137.6	-	10	1247	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	402					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTCCTGCTCACAAGGCGCTGT	0.667																																																	0													62.0	58.0	60.0					22																	19121936		2203	4300	6503	SO:0001583	missense	8220			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1204G>A	22.37:g.19121936C>T	ENSP00000252137:p.Val402Met		Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.V402M	ENST00000252137.6	37	c.1204	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083681	0.76642	.	.	ENSG00000100056	ENST00000252137	T	0.24151	1.87	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.19910	-1.0291	10	0.37606	T	0.19	-21.3465	16.5948	0.84792	0.0:1.0:0.0:0.0	.	402	Q96DF8	DGC14_HUMAN	M	402	ENSP00000252137:V402M	ENSP00000252137:V402M	V	-	1	0	DGCR14	17501936	1.000000	0.71417	0.974000	0.42286	0.670000	0.39368	7.320000	0.79064	2.241000	0.73720	0.484000	0.47621	GTG	DGCR14	-	NULL		0.667	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	C			19121936	-1	no_errors	ENST00000252137	ensembl	human	known	70_37	missense	SNP	0.999	T
DGCR14	8220	genome.wustl.edu	37	22	19122626	19122626	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:19122626C>T	ENST00000252137.6	-	9	1141	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	366					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGGCCCGGTTCTTGGCAGCGG	0.667																																																	0													119.0	100.0	106.0					22																	19122626		2203	4300	6503	SO:0001819	synonymous_variant	8220			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1098G>A	22.37:g.19122626C>T			Q49AH7|Q9BTZ4	Silent	SNP	pfam_Nuclear_protein_DGCR14	p.K366	ENST00000252137.6	37	c.1098	CCDS13756.1	22																																																																																			DGCR14	-	pfam_Nuclear_protein_DGCR14		0.667	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	C			19122626	-1	no_errors	ENST00000252137	ensembl	human	known	70_37	silent	SNP	1.000	T
DGCR14	8220	genome.wustl.edu	37	22	19122634	19122634	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:19122634C>T	ENST00000252137.6	-	9	1133	c.1090G>A	c.(1090-1092)Gct>Act	p.A364T		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	364					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TTCTTGGCAGCGGCCTCGTTG	0.662																																																	0													111.0	93.0	99.0					22																	19122634		2203	4300	6503	SO:0001583	missense	8220			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1090G>A	22.37:g.19122634C>T	ENSP00000252137:p.Ala364Thr		Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.A364T	ENST00000252137.6	37	c.1090	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779648	0.90195	.	.	ENSG00000100056	ENST00000252137	T	0.50001	0.76	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58934	-0.7548	10	0.27082	T	0.32	-14.3191	19.4356	0.94792	0.0:1.0:0.0:0.0	.	364	Q96DF8	DGC14_HUMAN	T	364	ENSP00000252137:A364T	ENSP00000252137:A364T	A	-	1	0	DGCR14	17502634	1.000000	0.71417	0.680000	0.29994	0.977000	0.68977	5.759000	0.68785	2.692000	0.91855	0.655000	0.94253	GCT	DGCR14	-	pfam_Nuclear_protein_DGCR14		0.662	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	C			19122634	-1	no_errors	ENST00000252137	ensembl	human	known	70_37	missense	SNP	0.999	T
DGKD	8527	genome.wustl.edu	37	2	234294806	234294806	+	Intron	DEL	T	T	-			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:234294806delT	ENST00000264057.2	+	2	168				DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_5'Flank	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGGTTTTGTCTTTTTTTTTTT	0.408																																																	0																																										SO:0001627	intron_variant	8527			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.157-2097T>-	2.37:g.234294806delT			Q14158|Q6PK55|Q8NG53	RNA	DEL	-	NULL	ENST00000264057.2	37	NULL	CCDS2504.1	2																																																																																			DGKD	-	-		0.408	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	T	NM_003648		234294806	+1	no_errors	ENST00000489613	ensembl	human	putative	70_37	rna	DEL	0.000	-
DGUOK	1716	genome.wustl.edu	37	2	74173878	74173878	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:74173878G>A	ENST00000264093.4	+	3	373	c.288G>A	c.(286-288)ctG>ctA	p.L96L	DGUOK_ENST00000462685.1_3'UTR|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000348222.1_Silent_p.L96L|DGUOK_ENST00000356837.6_Silent_p.L74L	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	96					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	GAAACTTGCTGGATATGATGT	0.478																																																	0													81.0	73.0	76.0					2																	74173878		2203	4300	6503	SO:0001819	synonymous_variant	1716			U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.288G>A	2.37:g.74173878G>A			P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	NULL	p.G59R	ENST00000264093.4	37	c.175	CCDS1931.1	2																																																																																			DGUOK	-	NULL		0.478	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGUOK	HGNC	protein_coding	OTTHUMT00000252050.1	G			74173878	+1	no_errors	ENST00000418996	ensembl	human	known	70_37	missense	SNP	0.998	A
DHCR24	1718	genome.wustl.edu	37	1	55352682	55352682	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:55352682G>C	ENST00000371269.3	-	1	209	c.111C>G	c.(109-111)ctC>ctG	p.L37L	DHCR24_ENST00000535035.1_5'Flank|RP11-67L3.4_ENST00000455380.1_RNA|RP11-67L3.4_ENST00000443284.1_RNA|RP11-67L3.5_ENST00000415336.1_RNA|RP11-67L3.4_ENST00000436033.1_RNA|RP11-67L3.4_ENST00000433690.1_RNA	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	37					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCAGGAGGAAGAGGCACACGA	0.647																																					Pancreas(39;516 1021 24601 30715 32780)												0													52.0	51.0	51.0					1																	55352682		2203	4300	6503	SO:0001819	synonymous_variant	1718			AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.111C>G	1.37:g.55352682G>C			B7Z817|D3DQ51|Q9HBA8	Silent	SNP	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	p.L37	ENST00000371269.3	37	c.111	CCDS600.1	1																																																																																			DHCR24	-	superfamily_FAD-bd_2		0.647	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR24	HGNC	protein_coding	OTTHUMT00000027680.1	G	NM_014762		55352682	-1	no_errors	ENST00000371269	ensembl	human	known	70_37	silent	SNP	1.000	C
DHPS	1725	genome.wustl.edu	37	19	12792434	12792434	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:12792434G>C	ENST00000210060.7	-	1	282	c.147C>G	c.(145-147)ttC>ttG	p.F49L	DHPS_ENST00000351660.5_Missense_Mutation_p.F49L|DHPS_ENST00000599481.1_5'Flank|DHPS_ENST00000594424.1_5'Flank|CTD-2192J16.26_ENST00000593554.1_lincRNA	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						CGGTGGTGCCGAAGGCCTCCA	0.632																																																	0													59.0	60.0	60.0					19																	12792434		2203	4300	6503	SO:0001583	missense	1725			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.147C>G	19.37:g.12792434G>C	ENSP00000210060:p.Phe49Leu		A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	p.F49L	ENST00000210060.7	37	c.147	CCDS12276.1	19	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163283	0.38217	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.42900	0.96;0.96	5.53	3.38	0.38709	.	0.343803	0.32015	N	0.006708	T	0.28863	0.0716	L	0.33339	1.005	0.38094	D	0.937041	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.18871	0.023;0.002;0.002	T	0.10359	-1.0633	10	0.19590	T	0.45	-11.7203	9.2865	0.37760	0.0813:0.1556:0.7631:0.0	.	49;49;49	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	L	49	ENSP00000210060:F49L;ENSP00000221303:F49L	ENSP00000210060:F49L	F	-	3	2	DHPS	12653434	0.995000	0.38212	0.598000	0.28837	0.266000	0.26442	2.501000	0.45389	0.691000	0.31592	0.313000	0.20887	TTC	DHPS	-	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase		0.632	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHPS	HGNC	protein_coding	OTTHUMT00000462708.1	G	NM_001930		12792434	-1	no_errors	ENST00000210060	ensembl	human	known	70_37	missense	SNP	0.838	C
DHX29	54505	genome.wustl.edu	37	5	54581210	54581210	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:54581210C>T	ENST00000251636.5	-	10	1415	c.1267G>A	c.(1267-1269)Gta>Ata	p.V423I	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	423						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GGGCATACTACCAGGACATCA	0.383																																																	0													72.0	64.0	67.0					5																	54581210		2203	4300	6503	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1267G>A	5.37:g.54581210C>T	ENSP00000251636:p.Val423Ile		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V423I	ENST00000251636.5	37	c.1267	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429116	0.25726	.	.	ENSG00000067248	ENST00000251636	T	0.03330	3.97	5.46	4.59	0.56863	.	0.299751	0.37012	N	0.002288	T	0.02047	0.0064	N	0.14661	0.345	0.27562	N	0.950145	B	0.34015	0.435	B	0.24974	0.057	T	0.45396	-0.9264	10	0.28530	T	0.3	.	6.7539	0.23501	0.1442:0.7049:0.0:0.1508	.	423	Q7Z478	DHX29_HUMAN	I	423	ENSP00000251636:V423I	ENSP00000251636:V423I	V	-	1	0	DHX29	54616967	0.993000	0.37304	0.917000	0.36280	0.541000	0.35023	2.018000	0.40991	1.450000	0.47717	0.655000	0.94253	GTA	DHX29	-	NULL		0.383	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	C	NM_019030		54581210	-1	no_errors	ENST00000251636	ensembl	human	known	70_37	missense	SNP	0.967	T
DHX30	22907	genome.wustl.edu	37	3	47889784	47889784	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:47889784G>C	ENST00000445061.1	+	15	2808	c.2401G>C	c.(2401-2403)Gag>Cag	p.E801Q	DHX30_ENST00000348968.4_Missense_Mutation_p.E773Q|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.E829Q|DHX30_ENST00000446256.2_Missense_Mutation_p.E762Q	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	801	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGCCGGCTGGAGAAAATGGT	0.607																																																	0													40.0	46.0	44.0					3																	47889784		2203	4300	6503	SO:0001583	missense	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2401G>C	3.37:g.47889784G>C	ENSP00000405620:p.Glu801Gln		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E801Q	ENST00000445061.1	37	c.2401	CCDS2759.1	3	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352839	0.41700	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.04234	3.67;3.67;3.67;3.67	5.72	5.72	0.89469	Helicase, C-terminal (1);	0.165435	0.52532	D	0.000075	T	0.05273	0.0140	L	0.37850	1.14	0.48901	D	0.99972	B;B	0.22346	0.068;0.024	B;B	0.21917	0.036;0.037	T	0.44982	-0.9292	10	0.26408	T	0.33	.	12.21	0.54373	0.0772:0.0:0.9228:0.0	.	801;762	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	Q	762;801;773;829	ENSP00000392601:E762Q;ENSP00000405620:E801Q;ENSP00000343442:E773Q;ENSP00000394682:E829Q	ENSP00000343442:E773Q	E	+	1	0	DHX30	47864788	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	7.982000	0.88131	2.687000	0.91594	0.655000	0.94253	GAG	DHX30	-	pfscan_Helicase_C		0.607	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	G	NM_138615		47889784	+1	no_errors	ENST00000445061	ensembl	human	known	70_37	missense	SNP	1.000	C
DKK3	27122	genome.wustl.edu	37	11	11989992	11989992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:11989992G>A	ENST00000396505.2	-	5	716	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	DKK3_ENST00000525493.1_Nonsense_Mutation_p.Q160*|DKK3_ENST00000450094.2_Nonsense_Mutation_p.Q132*|DKK3_ENST00000326932.4_Nonsense_Mutation_p.Q160*|DKK3_ENST00000527132.1_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	160	DKK-type Cys-1.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CTGGCAAACTGGCAGTACATG	0.627																																																	0													88.0	75.0	80.0					11																	11989992		2201	4294	6495	SO:0001587	stop_gained	27122			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.478C>T	11.37:g.11989992G>A	ENSP00000379762:p.Gln160*		A8K1I2|D3DQW1|Q9ULB7	Nonsense_Mutation	SNP	pfam_Dickkopf_N	p.Q160*	ENST00000396505.2	37	c.478	CCDS7808.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.512855	0.96402	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914;ENST00000533813;ENST00000534511;ENST00000529338	.	.	.	5.34	5.34	0.76211	.	0.279936	0.36893	N	0.002351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.4731	7.7736	0.29023	0.0855:0.1653:0.7492:0.0	.	.	.	.	X	160;160;103;160;132;4;160;132;132	.	ENSP00000314730:Q4X	Q	-	1	0	DKK3	11946568	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.757000	0.47557	2.492000	0.84095	0.655000	0.94253	CAG	DKK3	-	pfam_Dickkopf_N		0.627	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DKK3	HGNC	protein_coding	OTTHUMT00000385863.1	G	NM_013253		11989992	-1	no_errors	ENST00000326932	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DLG1	1739	genome.wustl.edu	37	3	196807888	196807888	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:196807888G>A	ENST00000419354.1	-	18	2291				DLG1_ENST00000422288.1_Intron|DLG1_ENST00000450955.1_Intron|DLG1_ENST00000392382.2_Intron|DLG1_ENST00000357674.4_Intron|DLG1_ENST00000346964.2_Intron|DLG1_ENST00000448528.2_Intron|DLG1_ENST00000452595.1_Intron|DLG1_ENST00000443183.1_Intron|DLG1_ENST00000314062.3_Intron			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)						actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GCTCAAACAGGAATTACAAAA	0.328																																																	0													85.0	82.0	83.0					3																	196807888		2201	4294	6495	SO:0001627	intron_variant	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2004+33C>T	3.37:g.196807888G>A			A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	RNA	SNP	-	NULL	ENST00000419354.1	37	NULL	CCDS43194.1	3																																																																																			DLG1	-	-		0.328	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	G	NM_004087		196807888	-1	no_errors	ENST00000493937	ensembl	human	putative	70_37	rna	SNP	0.000	A
DLG2	1740	genome.wustl.edu	37	11	83877955	83877956	+	Intron	INS	-	-	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:83877955_83877956insT	ENST00000532653.1	-	4	561				DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000531015.1_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)						nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGCCGAATACATTTTTTTTCTT	0.376																																																	0																																										SO:0001627	intron_variant	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.259-3401->A	11.37:g.83877963_83877963dupT			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	RNA	INS	-	NULL	ENST00000532653.1	37	NULL		11																																																																																			DLG2	-	-		0.376	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	NM_001364		83877956	-1	no_errors	ENST00000524941	ensembl	human	known	70_37	rna	INS	0.000:0.000	T
DLST	1743	genome.wustl.edu	37	14	75348641	75348641	+	5'UTR	SNP	C	C	T	rs376399767		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:75348641C>T	ENST00000334220.4	+	0	46				DLST_ENST00000334212.6_5'UTR|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)						cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CGCCCGCCCTCGGCTCCTCCG	0.706																																																	0													16.0	12.0	13.0					14																	75348641		2173	4256	6429	SO:0001623	5_prime_UTR_variant	1743				CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.-16C>T	14.37:g.75348641C>T			B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	RNA	SNP	-	NULL	ENST00000334220.4	37	NULL	CCDS9833.1	14																																																																																			DLST	-	-		0.706	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLST	HGNC	protein_coding	OTTHUMT00000413637.1	C			75348641	+1	no_errors	ENST00000555190	ensembl	human	known	70_37	rna	SNP	0.936	T
DLX4	1748	genome.wustl.edu	37	17	48050454	48050454	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48050454C>T	ENST00000240306.3	+	2	596	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	DLX4_ENST00000411890.2_Silent_p.L29L|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	101					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GAAGCCGCGGCTGTCCCCGGA	0.632																																																	0													36.0	45.0	42.0					17																	48050454		2203	4300	6503	SO:0001819	synonymous_variant	1748				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.301C>T	17.37:g.48050454C>T			D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.L101	ENST00000240306.3	37	c.301	CCDS11555.1	17																																																																																			DLX4	-	NULL		0.632	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	C			48050454	+1	no_errors	ENST00000240306	ensembl	human	known	70_37	silent	SNP	0.343	T
DMD	1756	genome.wustl.edu	37	X	33229516	33229516	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:33229516G>C	ENST00000357033.4	-	0	120				DMD_ENST00000288447.4_Intron	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAAAAACAATGAGAAACCAAC	0.363																																																	0													28.0	20.0	23.0					X																	33229516		692	1582	2274	SO:0001623	5_prime_UTR_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.-87C>G	X.37:g.33229516G>C			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	RNA	SNP	-	NULL	ENST00000357033.4	37	NULL	CCDS14233.1	X																																																																																			DMD	-	-		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		33229516	-1	no_errors	ENST00000463609	ensembl	human	known	70_37	rna	SNP	0.707	C
DNAH10	196385	genome.wustl.edu	37	12	124272480	124272480	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:124272480C>T	ENST00000409039.3	+	10	1393	c.1368C>T	c.(1366-1368)gaC>gaT	p.D456D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	456	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGAGTTTGACCGGAAGCGGC	0.592																																																	0													54.0	44.0	47.0					12																	124272480		2203	4300	6503	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1368C>T	12.37:g.124272480C>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.D456	ENST00000409039.3	37	c.1368	CCDS9255.2	12																																																																																			DNAH10	-	pfam_Dynein_heavy_dom-1		0.592	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124272480	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	silent	SNP	0.146	T
DNAH11	8701	genome.wustl.edu	37	7	21901552	21901552	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:21901552G>C	ENST00000409508.3	+	69	11315	c.11284G>C	c.(11284-11286)Gag>Cag	p.E3762Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.E3769Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3769					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATCCTGATGGAGAGCATCAC	0.517									Kartagener syndrome																																								0													70.0	72.0	72.0					7																	21901552		2053	4220	6273	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11284G>C	7.37:g.21901552G>C	ENSP00000475939:p.Glu3762Gln		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3769Q	ENST00000409508.3	37	c.11305		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.78|17.78	3.474637|3.474637	0.63737|0.63737	.|.	.|.	ENSG00000105877|ENSG00000105877	ENST00000328843|ENST00000421290	T|.	0.56941|.	0.43|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.171189|.	0.56097|.	D|.	0.000035|.	T|T	0.76271|0.76271	0.3964|0.3964	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.71674|.	0.998|.	P|.	0.61800|.	0.894|.	T|T	0.74228|0.74228	-0.3733|-0.3733	9|4	0.66056|.	D|.	0.02|.	.|.	19.5455|19.5455	0.95295|0.95295	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3769|.	Q96DT5|.	DYH11_HUMAN|.	Q|A	3769|156	ENSP00000330671:E3769Q|.	ENSP00000330671:E3769Q|.	E|G	+|+	1|2	0|0	DNAH11|DNAH11	21868077|21868077	1.000000|1.000000	0.71417|0.71417	0.376000|0.376000	0.26042|0.26042	0.016000|0.016000	0.09150|0.09150	6.518000|6.518000	0.73764|0.73764	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAG|GGA	DNAH11	-	NULL		0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21901552	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH14	127602	genome.wustl.edu	37	1	225393772	225393772	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:225393772C>G	ENST00000445597.2	+	27	4796	c.4796C>G	c.(4795-4797)gCa>gGa	p.A1599G	DNAH14_ENST00000430092.1_Missense_Mutation_p.A2004G|DNAH14_ENST00000439375.2_Missense_Mutation_p.A2004G			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1599					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						TTGTGCCTAGCAAACAGTGAG	0.423																																																	0													97.0	85.0	88.0					1																	225393772		692	1591	2283	SO:0001583	missense	127602			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.4796C>G	1.37:g.225393772C>G	ENSP00000409472:p.Ala1599Gly		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.A2004G	ENST00000445597.2	37	c.6011		1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226430	0.79576	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	D;D;D	0.88586	-2.4;-2.4;-2.4	5.44	4.51	0.55191	.	.	.	.	.	D	0.90055	0.6894	M	0.87827	2.91	0.80722	D	1	B	0.31413	0.322	B	0.28849	0.095	D	0.89590	0.3827	9	0.72032	D	0.01	.	14.9125	0.70770	0.0:0.8554:0.1446:0.0	.	2004	Q0VDD8-4	.	G	1599;2004;2004	ENSP00000409472:A1599G;ENSP00000414402:A2004G;ENSP00000392061:A2004G	ENSP00000414402:A2004G	A	+	2	0	DNAH14	223460395	0.991000	0.36638	0.998000	0.56505	0.991000	0.79684	3.017000	0.49615	1.255000	0.44051	0.590000	0.80494	GCA	DNAH14	-	smart_AAA+_ATPase		0.423	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	C	XM_059166		225393772	+1	no_errors	ENST00000430092	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH14	127602	genome.wustl.edu	37	1	225394691	225394691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:225394691G>T	ENST00000445597.2	+	28	4927	c.4927G>T	c.(4927-4929)Gaa>Taa	p.E1643*	DNAH14_ENST00000430092.1_Nonsense_Mutation_p.E2048*|DNAH14_ENST00000439375.2_Nonsense_Mutation_p.E2048*			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1643					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						TCTGGGATGGGAACCTTATGT	0.308																																																	0													61.0	53.0	55.0					1																	225394691		692	1591	2283	SO:0001587	stop_gained	127602			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.4927G>T	1.37:g.225394691G>T	ENSP00000409472:p.Glu1643*		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.E2048*	ENST00000445597.2	37	c.6142		1	.	.	.	.	.	.	.	.	.	.	G	44	11.014076	0.99503	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	.	.	.	5.59	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	6.5548	0.22454	0.1584:0.1514:0.6902:0.0	.	.	.	.	X	1643;2048;2048	.	ENSP00000414402:E2048X	E	+	1	0	DNAH14	223461314	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.621000	0.24418	2.621000	0.88768	0.523000	0.50628	GAA	DNAH14	-	NULL		0.308	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	G	XM_059166		225394691	+1	no_errors	ENST00000430092	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DNAH14	127602	genome.wustl.edu	37	1	225394807	225394807	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:225394807G>A	ENST00000445597.2	+	28	5043	c.5043G>A	c.(5041-5043)agG>agA	p.R1681R	DNAH14_ENST00000430092.1_Silent_p.R2086R|DNAH14_ENST00000439375.2_Silent_p.R2086R			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1681					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						AATTTATAAGGAATCGTCAGA	0.358																																																	0													102.0	98.0	99.0					1																	225394807		692	1591	2283	SO:0001819	synonymous_variant	127602			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.5043G>A	1.37:g.225394807G>A			A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.R2086	ENST00000445597.2	37	c.6258		1																																																																																			DNAH14	-	NULL		0.358	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	G	XM_059166		225394807	+1	no_errors	ENST00000430092	ensembl	human	known	70_37	silent	SNP	0.554	A
DNAH14	127602	genome.wustl.edu	37	1	225394916	225394916	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:225394916G>C	ENST00000445597.2	+	28	5152	c.5152G>C	c.(5152-5154)Gaa>Caa	p.E1718Q	DNAH14_ENST00000430092.1_Missense_Mutation_p.E2123Q|DNAH14_ENST00000439375.2_Missense_Mutation_p.E2123Q			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1718					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						TGGAGGATTTGAACAAAGTGA	0.333																																																	0													66.0	66.0	66.0					1																	225394916		692	1591	2283	SO:0001583	missense	127602			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.5152G>C	1.37:g.225394916G>C	ENSP00000409472:p.Glu1718Gln		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.E2123Q	ENST00000445597.2	37	c.6367		1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117492	0.08881	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	D;D;D	0.94613	-3.47;-3.47;-3.47	5.54	3.63	0.41609	.	.	.	.	.	D	0.88566	0.6471	L	0.38838	1.175	0.09310	N	0.999994	B	0.32160	0.358	B	0.29353	0.101	T	0.76239	-0.3032	9	0.16420	T	0.52	.	7.2348	0.26064	0.1592:0.1476:0.6932:0.0	.	2123	Q0VDD8-4	.	Q	1718;2123;2123	ENSP00000409472:E1718Q;ENSP00000414402:E2123Q;ENSP00000392061:E2123Q	ENSP00000414402:E2123Q	E	+	1	0	DNAH14	223461539	0.130000	0.22417	0.005000	0.12908	0.085000	0.17905	2.219000	0.42899	0.670000	0.31165	0.523000	0.50628	GAA	DNAH14	-	NULL		0.333	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	G	XM_059166		225394916	+1	no_errors	ENST00000430092	ensembl	human	known	70_37	missense	SNP	0.058	C
DNAH17	8632	genome.wustl.edu	37	17	76430271	76430271	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:76430271C>G	ENST00000585328.1	-	75	12173	c.12049G>C	c.(12049-12051)Gag>Cag	p.E4017Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.E4016Q|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4016	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACTTGAACTCCATCTCCTTG	0.592																																																	0													122.0	105.0	111.0					17																	76430271		2203	4300	6503	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12049G>C	17.37:g.76430271C>G	ENSP00000465516:p.Glu4017Gln		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.E4016Q	ENST00000585328.1	37	c.12046		17	.	.	.	.	.	.	.	.	.	.	C	31	5.093890	0.94149	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.10960	2.82	5.29	5.29	0.74685	.	0.206903	0.33419	N	0.004937	T	0.35219	0.0924	M	0.72353	2.195	0.50813	D	0.999893	P	0.49185	0.92	D	0.70487	0.969	T	0.03887	-1.0995	10	0.87932	D	0	.	18.9675	0.92702	0.0:1.0:0.0:0.0	.	4017	E7EUM8	.	Q	4017;4016	ENSP00000374490:E4016Q	ENSP00000300671:E4017Q	E	-	1	0	DNAH17	73941866	1.000000	0.71417	0.966000	0.40874	0.961000	0.63080	7.673000	0.83973	2.497000	0.84241	0.555000	0.69702	GAG	DNAH17	-	pfam_Dynein_heavy_dom		0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	C	NM_173628		76430271	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH3	55567	genome.wustl.edu	37	16	21063145	21063145	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:21063145G>A	ENST00000261383.3	-	29	4083	c.4084C>T	c.(4084-4086)Ctg>Ttg	p.L1362L	DNAH3_ENST00000415178.1_Silent_p.L1362L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1362	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAATCATTCAGATCGGAGACC	0.517																																																	0													136.0	129.0	131.0					16																	21063145		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4084C>T	16.37:g.21063145G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.L1362	ENST00000261383.3	37	c.4084	CCDS10594.1	16																																																																																			DNAH3	-	NULL		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21063145	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.983	A
DNAH6	1768	genome.wustl.edu	37	2	84851722	84851722	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:84851722G>C	ENST00000237449.6	+	27	4339	c.4331G>C	c.(4330-4332)aGa>aCa	p.R1444T	DNAH6_ENST00000398278.2_Missense_Mutation_p.R1444T|DNAH6_ENST00000389394.3_Missense_Mutation_p.R1444T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1444	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GCATGCCCAAGATTGGTTATT	0.388																																																	0													181.0	146.0	157.0					2																	84851722		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.4331G>C	2.37:g.84851722G>C	ENSP00000237449:p.Arg1444Thr		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R1444T	ENST00000237449.6	37	c.4331	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698280	0.68386	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.14640	2.49;2.49;2.49	5.51	4.64	0.57946	.	.	.	.	.	T	0.47911	0.1471	H	0.94808	3.585	0.35017	D	0.757427	D	0.89917	1.0	D	0.85130	0.997	T	0.70676	-0.4806	9	0.54805	T	0.06	.	13.3258	0.60459	0.0775:0.0:0.9225:0.0	.	1444	Q9C0G6	DYH6_HUMAN	T	1444	ENSP00000374045:R1444T;ENSP00000381326:R1444T;ENSP00000237449:R1444T	ENSP00000237449:R1444T	R	+	2	0	DNAH6	84705233	1.000000	0.71417	0.967000	0.41034	0.999000	0.98932	9.619000	0.98369	1.324000	0.45282	0.655000	0.94253	AGA	DNAH6	-	NULL		0.388	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84851722	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH6	1768	genome.wustl.edu	37	2	84934134	84934134	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:84934134G>C	ENST00000237449.6	+	52	8850	c.8842G>C	c.(8842-8844)Gaa>Caa	p.E2948Q	DNAH6_ENST00000389394.3_Missense_Mutation_p.E2948Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2948	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAATGAAAAAGAAAGCCTGGG	0.368																																																	0													87.0	70.0	75.0					2																	84934134		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.8842G>C	2.37:g.84934134G>C	ENSP00000237449:p.Glu2948Gln		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E2948Q	ENST00000237449.6	37	c.8842	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	8.745	0.919793	0.17982	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.74106	-0.81;-0.81	5.73	5.73	0.89815	Dynein heavy chain, coiled coil stalk (1);	0.121662	0.36972	N	0.002306	T	0.60405	0.2266	N	0.13098	0.295	0.80722	D	1	B	0.25105	0.118	B	0.25987	0.065	T	0.56208	-0.8017	10	0.14252	T	0.57	.	18.6734	0.91519	0.0:0.0:1.0:0.0	.	2948	Q9C0G6	DYH6_HUMAN	Q	2948	ENSP00000374045:E2948Q;ENSP00000237449:E2948Q	ENSP00000237449:E2948Q	E	+	1	0	DNAH6	84787645	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.737000	0.68606	2.706000	0.92434	0.563000	0.77884	GAA	DNAH6	-	NULL		0.368	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84934134	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAJB7	150353	genome.wustl.edu	37	22	41257347	41257347	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:41257347C>G	ENST00000307221.4	-	1	783	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	218							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						AATGTCAACTCTCCATTATCT	0.338																																																	0													94.0	98.0	97.0					22																	41257347		2203	4300	6503	SO:0001583	missense	150353			AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.652G>C	22.37:g.41257347C>G	ENSP00000307197:p.Glu218Gln		Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E218Q	ENST00000307221.4	37	c.652	CCDS14008.1	22	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.682389	0.00745	.	.	ENSG00000172404	ENST00000307221	T	0.46819	0.86	4.63	0.074	0.14393	.	0.242826	0.27447	N	0.019328	T	0.24236	0.0587	L	0.28014	0.82	0.09310	N	1	B	0.22003	0.063	B	0.25884	0.064	T	0.27297	-1.0078	10	0.02654	T	1	.	5.3071	0.15809	0.0:0.4981:0.3149:0.187	.	218	Q7Z6W7	DNJB7_HUMAN	Q	218	ENSP00000307197:E218Q	ENSP00000307197:E218Q	E	-	1	0	DNAJB7	39587293	0.013000	0.17824	0.000000	0.03702	0.156000	0.22039	0.673000	0.25203	0.128000	0.18479	-0.229000	0.12294	GAG	DNAJB7	-	NULL		0.338	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB7	HGNC	protein_coding	OTTHUMT00000321765.1	C	NM_145174		41257347	-1	no_errors	ENST00000307221	ensembl	human	known	70_37	missense	SNP	0.000	G
DNAJC13	23317	genome.wustl.edu	37	3	132211367	132211367	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:132211367C>G	ENST00000260818.6	+	33	3981	c.3733C>G	c.(3733-3735)Cca>Gca	p.P1245A		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1245					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						AATCAACTATCCACAACTCGA	0.403																																																	0													181.0	197.0	191.0					3																	132211367		2203	4299	6502	SO:0001583	missense	23317			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.3733C>G	3.37:g.132211367C>G	ENSP00000260818:p.Pro1245Ala		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.P1245A	ENST00000260818.6	37	c.3733	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889399	0.91889	.	.	ENSG00000138246	ENST00000260818	T	0.21543	2.0	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	M	0.73372	2.23	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.43180	-0.9407	10	0.62326	D	0.03	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	1245	O75165	DJC13_HUMAN	A	1245	ENSP00000260818:P1245A	ENSP00000260818:P1245A	P	+	1	0	DNAJC13	133694057	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	CCA	DNAJC13	-	superfamily_ARM-type_fold		0.403	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	C	NM_015268		132211367	+1	no_errors	ENST00000260818	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAJC14	85406	genome.wustl.edu	37	12	56222284	56222284	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56222284G>A	ENST00000357606.3	-	3	448	c.159C>T	c.(157-159)ctC>ctT	p.L53L	DNAJC14_ENST00000317269.3_Silent_p.L53L|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Silent_p.L53L|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	53					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGTGCTCTGTGAGGCAGCGGG	0.592																																																	0													169.0	147.0	155.0					12																	56222284		2203	4300	6503	SO:0001819	synonymous_variant	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.159C>T	12.37:g.56222284G>A			A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Silent	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L53	ENST00000357606.3	37	c.159	CCDS8894.1	12																																																																																			DNAJC14	-	NULL		0.592	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	G	NM_032364		56222284	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	silent	SNP	0.986	A
DNAJC22	79962	genome.wustl.edu	37	12	49743276	49743276	+	Silent	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:49743276C>A	ENST00000549441.2	+	3	1825	c.621C>A	c.(619-621)acC>acA	p.T207T	DNAJC22_ENST00000395069.3_Silent_p.T207T			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	207						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						CAGCTGCCACCCTCAGCTATG	0.557																																																	0													138.0	132.0	134.0					12																	49743276		2203	4300	6503	SO:0001819	synonymous_variant	79962			AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.621C>A	12.37:g.49743276C>A			B3KP54	Silent	SNP	pfam_DnaJ_N,pfam_TM2,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.T207	ENST00000549441.2	37	c.621	CCDS8785.1	12																																																																																			DNAJC22	-	NULL		0.557	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC22	HGNC	protein_coding	OTTHUMT00000404302.2	C	NM_024902		49743276	+1	no_errors	ENST00000395069	ensembl	human	known	70_37	silent	SNP	0.216	A
DNAJC14	85406	genome.wustl.edu	37	12	56222339	56222339	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56222339G>A	ENST00000357606.3	-	3	393	c.104C>T	c.(103-105)tCa>tTa	p.S35L	DNAJC14_ENST00000317269.3_Missense_Mutation_p.S35L|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Missense_Mutation_p.S35L|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	35					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S35*(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCCTGAGAATGAAGGTATTTC	0.587																																																	1	Substitution - Nonsense(1)	breast(1)											127.0	114.0	119.0					12																	56222339		2203	4300	6503	SO:0001583	missense	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.104C>T	12.37:g.56222339G>A	ENSP00000350223:p.Ser35Leu		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.S35L	ENST00000357606.3	37	c.104	CCDS8894.1	12	.	.	.	.	.	.	.	.	.	.	G	9.518	1.107441	0.20714	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445;ENST00000546957	T;T;T	0.38077	1.16;1.16;1.16	5.84	4.03	0.46877	.	0.416475	0.18257	N	0.146747	T	0.24314	0.0589	N	0.24115	0.695	0.30553	N	0.765269	B;B	0.27823	0.19;0.041	B;B	0.24155	0.051;0.025	T	0.19160	-1.0314	10	0.87932	D	0	-1.0634	9.432	0.38615	0.1633:0.0:0.8367:0.0	.	35;35	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	L	35	ENSP00000350223:S35L;ENSP00000316240:S35L;ENSP00000317500:S35L	ENSP00000316240:S35L	S	-	2	0	DNAJC14	54508606	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	1.992000	0.40737	0.945000	0.37605	-0.133000	0.14855	TCA	DNAJC14	-	NULL		0.587	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	G	NM_032364		56222339	-1	no_errors	ENST00000317269	ensembl	human	known	70_37	missense	SNP	1.000	A
DNALI1	7802	genome.wustl.edu	37	1	38027339	38027339	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:38027339G>C	ENST00000497858.1	+	0	1201				DNALI1_ENST00000541606.1_Intron|DNALI1_ENST00000296218.7_Intron			O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1						cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAGGAAAGTGAGTGGGGTTT	0.552											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													153.0	91.0	112.0					1																	38027339		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7802			AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000497858.1:c.*1198G>C	1.37:g.38027339G>C		875	A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	RNA	SNP	-	NULL	ENST00000497858.1	37	NULL		1																																																																																			DNALI1	-	-		0.552	DNALI1-002	KNOWN	basic	processed_transcript	DNALI1	HGNC	protein_coding	OTTHUMT00000012160.1	G	NM_003462		38027339	+1	no_errors	ENST00000497858	ensembl	human	known	70_37	rna	SNP	1.000	C
DOCK11	139818	genome.wustl.edu	37	X	117718726	117718726	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:117718726C>G	ENST00000276202.7	+	15	1687	c.1624C>G	c.(1624-1626)Ctt>Gtt	p.L542V	DOCK11_ENST00000276204.6_Missense_Mutation_p.L542V	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	542					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCAAGGCTCTCTTGATCTGGA	0.318																																																	0													72.0	71.0	72.0					X																	117718726		2203	4299	6502	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1624C>G	X.37:g.117718726C>G	ENSP00000276202:p.Leu542Val		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L542V	ENST00000276202.7	37	c.1624	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	C	9.217	1.032465	0.19590	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.02140	4.43;4.43	5.24	3.47	0.39725	.	0.000000	0.64402	D	0.000001	T	0.06325	0.0163	L	0.61036	1.89	0.46701	D	0.999161	P;D	0.60575	0.942;0.988	P;P	0.54401	0.541;0.751	T	0.30794	-0.9966	10	0.38643	T	0.18	-6.5124	10.6885	0.45856	0.0:0.8647:0.0:0.1353	.	542;542	A6NIW2;Q5JSL3	.;DOC11_HUMAN	V	542	ENSP00000276204:L542V;ENSP00000276202:L542V	ENSP00000276202:L542V	L	+	1	0	DOCK11	117602754	0.553000	0.26513	0.987000	0.45799	0.641000	0.38312	1.073000	0.30691	0.425000	0.26087	0.513000	0.50165	CTT	DOCK11	-	NULL		0.318	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	C	NM_144658		117718726	+1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	0.909	G
DOPEY2	9980	genome.wustl.edu	37	21	37617942	37617942	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:37617942G>A	ENST00000399151.3	+	19	3749	c.3664G>A	c.(3664-3666)Gag>Aag	p.E1222K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1222					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGGCCGTCGAGGCCTTGTT	0.612																																																	0													62.0	55.0	58.0					21																	37617942		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3664G>A	21.37:g.37617942G>A	ENSP00000382104:p.Glu1222Lys		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.E1222K	ENST00000399151.3	37	c.3664	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676983	0.68042	.	.	ENSG00000142197	ENST00000399151	T	0.66460	-0.21	4.76	3.86	0.44501	.	0.104242	0.64402	D	0.000004	T	0.73233	0.3561	M	0.70595	2.14	0.46749	D	0.999184	D;D	0.61697	0.99;0.982	P;P	0.50970	0.655;0.453	T	0.77595	-0.2529	10	0.62326	D	0.03	.	15.0143	0.71573	0.0:0.2692:0.7308:0.0	.	1222;1222	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	1222	ENSP00000382104:E1222K	ENSP00000382104:E1222K	E	+	1	0	DOPEY2	36539812	1.000000	0.71417	0.809000	0.32408	0.995000	0.86356	5.199000	0.65152	1.122000	0.41944	0.655000	0.94253	GAG	DOPEY2	-	NULL		0.612	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37617942	+1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.991	A
DST	667	genome.wustl.edu	37	6	56368830	56368830	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:56368830G>A	ENST00000361203.3	-	73	18578	c.18571C>T	c.(18571-18573)Ctc>Ttc	p.L6191F	DST_ENST00000370754.5_Missense_Mutation_p.L6480F|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.L4214F|DST_ENST00000370788.2_Missense_Mutation_p.L4105F|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.L5976F|DST_ENST00000244364.6_Missense_Mutation_p.L3888F|DST_ENST00000370769.4_Missense_Mutation_p.L6302F			Q03001	DYST_HUMAN	dystonin	6191					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)			ACAGTTTCGAGATCTGTTCCA	0.418																																																	0													111.0	103.0	106.0					6																	56368830		1891	4113	6004	SO:0001583	missense	667			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.18571C>T	6.37:g.56368830G>A	ENSP00000354508:p.Leu6191Phe		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.L6480F	ENST00000361203.3	37	c.19438		6	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299444	0.60195	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.35	4.47	0.54385	.	0.000000	0.44483	D	0.000451	T	0.63954	0.2555	M	0.71581	2.175	0.33259	D	0.559440	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.974	T	0.68150	-0.5485	9	0.44086	T	0.13	.	10.8926	0.47004	0.1465:0.0:0.8535:0.0	.	4214;6302;6480;6300;3888	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	F	3888;6480;6302;4214;5976;4105;6191	ENSP00000244364:L3888F;ENSP00000359790:L6480F;ENSP00000359805:L6302F;ENSP00000400883:L4214F;ENSP00000393645:L5976F;ENSP00000359824:L4105F;ENSP00000354508:L6191F	ENSP00000244364:L3888F	L	-	1	0	DST	56476789	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.086000	0.57664	1.359000	0.45940	0.650000	0.86243	CTC	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56368830	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	A
DVL1	1855	genome.wustl.edu	37	1	1273752	1273752	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:1273752C>T	ENST00000378888.5	-	13	1688	c.1404G>A	c.(1402-1404)cgG>cgA	p.R468R	DVL1_ENST00000378891.5_Silent_p.R443R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	468	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGCGTACTTCCGGGCCTCCC	0.652																																																	0													41.0	38.0	39.0					1																	1273752		2201	4295	6496	SO:0001819	synonymous_variant	1855			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1404G>A	1.37:g.1273752C>T			Q5TA33|Q5TA35	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam	p.R468	ENST00000378888.5	37	c.1404		1																																																																																			DVL1	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.652	DVL1-004	KNOWN	basic|appris_principal	protein_coding	DVL1	HGNC	protein_coding	OTTHUMT00000008490.1	C	NM_004421		1273752	-1	no_errors	ENST00000378888	ensembl	human	known	70_37	silent	SNP	0.681	T
E2F5	1875	genome.wustl.edu	37	8	86127137	86127137	+	IGR	SNP	G	G	A	rs373760171	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:86127137G>A	ENST00000416274.2	+	0	1728				C8orf59_ENST00000431163.2_Intron|C8orf59_ENST00000518091.1_Intron|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000421308.2_Intron|C8orf59_ENST00000458398.2_Intron|C8orf59_ENST00000417663.2_Intron|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000524353.1_Intron	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|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)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						AAAAGCAAATGATTTCTGCTT	0.333													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		16438	0.0		0.0	False		,,,				2504	0.0																0								G	,,,	3,3617		0,3,1807	40.0	39.0	40.0		,,,	-4.5	0.0	8		40	0,8126		0,0,4063	no	intron,intron,intron,intron	C8orf59	NM_001099670.1,NM_001099671.1,NM_001099672.1,NM_001099673.1	,,,	0,3,5870	AA,AG,GG		0.0,0.0829,0.0255	,,,	,,,	86127137	3,11743	1810	4063	5873	SO:0001628	intergenic_variant	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86127137G>A			E9PBN9|Q16601|Q92756	RNA	SNP	-	NULL	ENST00000416274.2	37	NULL	CCDS47885.1	8																																																																																			E2F5	-	-		0.333	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	E2F5	HGNC	protein_coding	OTTHUMT00000380274.1	G	NM_001951		86127137	+1	no_errors	ENST00000519128	ensembl	human	known	70_37	rna	SNP	0.000	A
ECT2	1894	genome.wustl.edu	37	3	172486809	172486809	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:172486809C>G	ENST00000392692.3	+	13	1480	c.1304C>G	c.(1303-1305)tCt>tGt	p.S435C	ECT2_ENST00000441497.2_Missense_Mutation_p.S404C|ECT2_ENST00000540509.1_Missense_Mutation_p.S435C|SNORA72_ENST00000363485.1_RNA|ECT2_ENST00000232458.5_Missense_Mutation_p.S404C|ECT2_ENST00000427830.1_Missense_Mutation_p.S404C|ECT2_ENST00000417960.1_Missense_Mutation_p.S403C	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	435					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ACCCCAAAGTCTTGTACTAAG	0.353																																																	0													103.0	102.0	103.0					3																	172486809		2203	4300	6503	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1304C>G	3.37:g.172486809C>G	ENSP00000376457:p.Ser435Cys		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.S404C	ENST00000392692.3	37	c.1211	CCDS58860.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.55|17.55	3.417060|3.417060	0.62511|0.62511	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000444250|ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	.|T;T;T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95;0.95;0.95	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Dbl homology (DH) domain (5);	.|0.158424	.|0.44902	.|D	.|0.000412	T|T	0.44705|0.44705	0.1306|0.1306	N|N	0.19112|0.19112	0.55|0.55	0.44562|0.44562	D|D	0.997521|0.997521	.|D;D;D;D	.|0.62365	.|0.987;0.978;0.978;0.991	.|P;P;P;P	.|0.61328	.|0.886;0.887;0.887;0.818	T|T	0.40739|0.40739	-0.9547|-0.9547	5|10	.|0.52906	.|T	.|0.07	-18.9154|-18.9154	12.2153|12.2153	0.54402|0.54402	0.0:0.9217:0.0:0.0783|0.0:0.9217:0.0:0.0783	.|.	.|435;435;404;403	.|Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	.|ECT2_HUMAN;.;.;.	V|C	78|404;435;404;403;404;435	.|ENSP00000232458:S404C;ENSP00000376457:S435C;ENSP00000401910:S404C;ENSP00000415876:S403C;ENSP00000412259:S404C;ENSP00000443160:S435C	.|ENSP00000232458:S404C	L|S	+|+	1|2	0|0	ECT2|ECT2	173969503|173969503	.|.	.|.	0.996000|0.996000	0.52242|0.52242	0.803000|0.803000	0.45373|0.45373	.|.	.|.	2.513000|2.513000	0.84729|0.84729	0.655000|0.655000	0.94253|0.94253	CTT|TCT	ECT2	-	superfamily_DH-domain		0.353	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2	C	NM_018098		172486809	+1	no_errors	ENST00000427830	ensembl	human	known	70_37	missense	SNP	1.000	G
EDEM2	55741	genome.wustl.edu	37	20	33734979	33734979	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:33734979G>A	ENST00000374492.3	-	1	188	c.83C>T	c.(82-84)tCc>tTc	p.S28F	EDEM2_ENST00000374491.3_Missense_Mutation_p.S28F|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000540582.1_Intron|EDEM2_ENST00000541621.1_5'Flank	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	28					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATCTGGCGCGGAGCCGTCGGG	0.647																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0													20.0	20.0	20.0					20																	33734979		2193	4295	6488	SO:0001583	missense	55741			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.83C>T	20.37:g.33734979G>A	ENSP00000363616:p.Ser28Phe		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.S28F	ENST00000374492.3	37	c.83	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	g	20.4	3.979649	0.74360	.	.	ENSG00000088298	ENST00000374491;ENST00000374492	T;T	0.59224	0.28;0.31	5.94	5.94	0.96194	.	0.298510	0.33691	N	0.004644	T	0.38719	0.1051	N	0.08118	0	0.80722	D	1	B;B	0.24963	0.115;0.07	B;B	0.29598	0.104;0.021	T	0.29027	-1.0025	10	0.13470	T	0.59	-16.4244	15.871	0.79119	0.0:0.0:1.0:0.0	.	28;28	Q9BV94-2;Q9BV94	.;EDEM2_HUMAN	F	28	ENSP00000363615:S28F;ENSP00000363616:S28F	ENSP00000363615:S28F	S	-	2	0	EDEM2	33198640	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.268000	0.51585	2.817000	0.96982	0.643000	0.83706	TCC	EDEM2	-	superfamily_Glyco_hydro_47		0.647	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	G	NM_018217		33734979	-1	no_errors	ENST00000374492	ensembl	human	known	70_37	missense	SNP	1.000	A
EDN1	1906	genome.wustl.edu	37	6	12294300	12294300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:12294300G>A	ENST00000379375.5	+	3	627	c.360G>A	c.(358-360)tgG>tgA	p.W120*		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	120	Endothelin-like.				artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AGAAGTGCTGGAATTTTTGCC	0.453																																																	0													89.0	80.0	83.0					6																	12294300		2203	4300	6503	SO:0001587	stop_gained	1906			S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.360G>A	6.37:g.12294300G>A	ENSP00000368683:p.Trp120*		Q96DA1	Nonsense_Mutation	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.W120*	ENST00000379375.5	37	c.360	CCDS4522.1	6	.	.	.	.	.	.	.	.	.	.	G	38	7.158995	0.98103	.	.	ENSG00000078401	ENST00000379375	.	.	.	5.86	5.86	0.93980	.	0.519299	0.21563	N	0.072527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-15.6786	16.4326	0.83859	0.0:0.1311:0.8689:0.0	.	.	.	.	X	120	.	ENSP00000368683:W120X	W	+	3	0	EDN1	12402286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.055000	0.64282	2.775000	0.95449	0.655000	0.94253	TGG	EDN1	-	smart_Endothln-like_toxin		0.453	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDN1	HGNC	protein_coding	OTTHUMT00000039872.1	G	NM_001955		12294300	+1	no_errors	ENST00000379375	ensembl	human	known	70_37	nonsense	SNP	1.000	A
EDNRA	1909	genome.wustl.edu	37	4	148463720	148463720	+	Missense_Mutation	SNP	C	C	G	rs199902852		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:148463720C>G	ENST00000324300.5	+	8	1749	c.1234C>G	c.(1234-1236)Caa>Gaa	p.Q412E	EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000506066.1_Missense_Mutation_p.Q303E|EDNRA_ENST00000511804.1_Missense_Mutation_p.Q187E|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000358556.4_Missense_Mutation_p.Q303E	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	412					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GAACCACGATCAAAACAACCA	0.517																																																	0													189.0	185.0	186.0					4																	148463720		2203	4300	6503	SO:0001583	missense	1909			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.1234C>G	4.37:g.148463720C>G	ENSP00000315011:p.Gln412Glu		B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn	p.Q412E	ENST00000324300.5	37	c.1234	CCDS3769.1	4	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112053	0.37242	.	.	ENSG00000151617	ENST00000358556;ENST00000324300;ENST00000511804;ENST00000506066	T;T;T;T	0.73789	0.44;-0.78;0.82;0.44	5.27	4.43	0.53597	.	0.114707	0.64402	D	0.000011	T	0.60779	0.2295	L	0.38175	1.15	0.80722	D	1	P;B	0.38597	0.639;0.0	B;B	0.34301	0.179;0.0	T	0.57447	-0.7810	10	0.27082	T	0.32	-11.0068	10.589	0.45298	0.1327:0.7961:0.0:0.0712	.	303;412	P25101-4;P25101	.;EDNRA_HUMAN	E	303;412;187;303	ENSP00000351359:Q303E;ENSP00000315011:Q412E;ENSP00000425354:Q187E;ENSP00000425281:Q303E	ENSP00000315011:Q412E	Q	+	1	0	EDNRA	148683170	1.000000	0.71417	0.838000	0.33150	0.942000	0.58702	5.368000	0.66133	1.201000	0.43203	0.591000	0.81541	CAA	EDNRA	-	prints_ETA_rcpt		0.517	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	C			148463720	+1	no_errors	ENST00000324300	ensembl	human	known	70_37	missense	SNP	1.000	G
EFNA1	1942	genome.wustl.edu	37	1	155100407	155100407	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:155100407C>G	ENST00000368407.3	+	0	472				EFNA1_ENST00000368406.2_5'UTR|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1						activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGAACCCAGACCCATAGGAGA	0.701																																																	0													18.0	22.0	21.0					1																	155100407		2197	4296	6493	SO:0001623	5_prime_UTR_variant	1942				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.-47C>G	1.37:g.155100407C>G			D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	RNA	SNP	-	NULL	ENST00000368407.3	37	NULL	CCDS1091.1	1																																																																																			EFNA1	-	-		0.701	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA1	HGNC	protein_coding	OTTHUMT00000085428.1	C	NM_004428		155100407	+1	no_errors	ENST00000469878	ensembl	human	known	70_37	rna	SNP	0.002	G
EHMT2	10919	genome.wustl.edu	37	6	31850709	31850709	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:31850709C>G	ENST00000375537.4	-	24	3078	c.3072G>C	c.(3070-3072)tgG>tgC	p.W1024C	EHMT2_ENST00000480912.1_5'UTR|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375530.4_Missense_Mutation_p.W990C|EHMT2_ENST00000375528.4_Missense_Mutation_p.W1047C|EHMT2_ENST00000395728.3_Missense_Mutation_p.W1081C	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1024	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGCAGTTTCTCCAGCATGAGC	0.587																																																	0													75.0	74.0	74.0					6																	31850709		1511	2709	4220	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3072G>C	6.37:g.31850709C>G	ENSP00000364687:p.Trp1024Cys		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.W1081C	ENST00000375537.4	37	c.3243	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871348	0.51695	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	4.24	4.24	0.50183	Pre-SET domain (2);	0.226724	0.39759	N	0.001268	D	0.90198	0.6936	L	0.42245	1.32	0.58432	D	0.999992	D;D;D;D	0.89917	0.993;0.998;1.0;1.0	P;D;D;D	0.73380	0.635;0.945;0.98;0.98	D	0.91191	0.4984	10	0.59425	D	0.04	.	15.5858	0.76482	0.0:1.0:0.0:0.0	.	1047;990;1024;845	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	C	1081;1047;990;1024;845	ENSP00000379078:W1081C;ENSP00000364678:W1047C;ENSP00000364680:W990C;ENSP00000364687:W1024C	ENSP00000364678:W1047C	W	-	3	0	EHMT2	31958688	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	1.921000	0.40035	2.201000	0.70794	0.561000	0.74099	TGG	EHMT2	-	pfam_Pre-SET_dom,pfscan_Pre-SET_dom		0.587	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	C	NM_006709		31850709	-1	no_errors	ENST00000395728	ensembl	human	known	70_37	missense	SNP	1.000	G
EIF2AK3	9451	genome.wustl.edu	37	2	88861854	88861854	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:88861854G>C	ENST00000303236.3	-	15	3341	c.3040C>G	c.(3040-3042)Cta>Gta	p.L1014V	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.L863V|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1014	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						AATTCAAATAGAATCAGGCCT	0.343																																					GBM(138;671 1851 16235 39058 45249)												0													59.0	62.0	61.0					2																	88861854		2203	4299	6502	SO:0001583	missense	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3040C>G	2.37:g.88861854G>C	ENSP00000307235:p.Leu1014Val		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L1014V	ENST00000303236.3	37	c.3040	CCDS33241.1	2	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355431	0.61293	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.28255	1.62;1.62;1.62	5.35	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.48059	0.1479	L	0.60904	1.88	0.51012	D	0.999903	D	0.76494	0.999	D	0.85130	0.997	T	0.46624	-0.9178	10	0.62326	D	0.03	-12.4135	8.9038	0.35510	0.2248:0.0:0.7752:0.0	.	1014	Q9NZJ5	E2AK3_HUMAN	V	863;1014;863;893	ENSP00000408325:L863V;ENSP00000307235:L1014V;ENSP00000412076:L893V	ENSP00000307235:L1014V	L	-	1	2	EIF2AK3	88642969	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.933000	0.63484	1.411000	0.46957	-0.373000	0.07131	CTA	EIF2AK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.343	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	HGNC	protein_coding	OTTHUMT00000338233.2	G	NM_004836		88861854	-1	no_errors	ENST00000303236	ensembl	human	known	70_37	missense	SNP	1.000	C
EIF3L	51386	genome.wustl.edu	37	22	38259338	38259338	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:38259338G>A	ENST00000412331.2	+	7	1147	c.565G>A	c.(565-567)Gag>Aag	p.E189K	EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.E91K	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TATTATCGATGAGTTCATCTA	0.448																																																	0													128.0	113.0	118.0					22																	38259338		2203	4300	6503	SO:0001583	missense	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.565G>A	22.37:g.38259338G>A	ENSP00000416892:p.Glu189Lys			Missense_Mutation	SNP	pfam_TIF3_suL	p.E232K	ENST00000412331.2	37	c.694	CCDS13960.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.693409	0.96793	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000262832;ENST00000406934	T;T	0.75367	-0.93;-0.93	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92664	0.6144	10	0.87932	D	0	-29.9791	18.6572	0.91458	0.0:0.0:1.0:0.0	.	91;189;232	B0QY90;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	K	189;232;156;91	ENSP00000416892:E189K;ENSP00000384634:E91K	ENSP00000262832:E156K	E	+	1	0	EIF3L	36589284	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.270000	0.95690	2.469000	0.83416	0.467000	0.42956	GAG	EIF3L	-	pfam_TIF3_suL		0.448	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3L	HGNC	protein_coding	OTTHUMT00000319551.2	G	NM_016091		38259338	+1	no_errors	ENST00000425539	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF5B	9669	genome.wustl.edu	37	2	99999378	99999378	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:99999378C>T	ENST00000289371.6	+	14	2467	c.2265C>T	c.(2263-2265)ctC>ctT	p.L755L		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	755	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGTTGCACTCAATAAGGTAT	0.323																																					Colon(162;2388 2567 2705 3444)												0													97.0	87.0	90.0					2																	99999378		1820	4073	5893	SO:0001819	synonymous_variant	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2265C>T	2.37:g.99999378C>T			O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.L755	ENST00000289371.6	37	c.2265	CCDS42721.1	2																																																																																			EIF5B	-	pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom		0.323	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	C	NM_015904		99999378	+1	no_errors	ENST00000289371	ensembl	human	known	70_37	silent	SNP	0.954	T
ELL	8178	genome.wustl.edu	37	19	18557273	18557273	+	Missense_Mutation	SNP	G	G	A	rs543271718	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:18557273G>A	ENST00000262809.4	-	10	1621	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	ELL_ENST00000596124.3_Missense_Mutation_p.S384F|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	517					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTCCGAAGAGGAGATGGCTGC	0.632			T	MLL	AL								g|||	4	0.000798722	0.0	0.0	5008	,	,		18838	0.0		0.0	False		,,,				2504	0.0041							Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													56.0	52.0	53.0					19																	18557273		2203	4299	6502	SO:0001583	missense	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1550C>T	19.37:g.18557273G>A	ENSP00000262809:p.Ser517Phe			Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.S517F	ENST00000262809.4	37	c.1550	CCDS12380.1	19	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472698	0.43942	.	.	ENSG00000105656	ENST00000262809	T	0.22743	1.94	4.62	2.44	0.29823	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.368724	0.28088	N	0.016650	T	0.30510	0.0767	L	0.55481	1.735	0.44702	D	0.997694	P;P	0.40731	0.599;0.728	B;P	0.52267	0.355;0.694	T	0.02326	-1.1176	10	0.56958	D	0.05	-35.1696	8.9436	0.35745	0.1866:0.0:0.8134:0.0	.	461;517	Q59HG4;P55199	.;ELL_HUMAN	F	517	ENSP00000262809:S517F	ENSP00000262809:S517F	S	-	2	0	ELL	18418273	1.000000	0.71417	0.197000	0.23402	0.669000	0.39330	1.690000	0.37711	0.518000	0.28383	0.543000	0.68304	TCC	ELL	-	pfam_Occludin_RNApol2_elong_fac_ELL		0.632	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	G	NM_006532		18557273	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	missense	SNP	0.967	A
EMP1	2012	genome.wustl.edu	37	12	13366640	13366640	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:13366640C>G	ENST00000256951.5	+	4	400	c.201C>G	c.(199-201)ttC>ttG	p.F67L	EMP1_ENST00000544053.1_5'UTR|EMP1_ENST00000431267.2_5'UTR|EMP1_ENST00000396301.3_Missense_Mutation_p.F67L|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	67					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGCAGGCCTTCATGATTCTCT	0.532																																																	0													337.0	287.0	304.0					12																	13366640		2203	4300	6503	SO:0001583	missense	2012			U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.201C>G	12.37:g.13366640C>G	ENSP00000256951:p.Phe67Leu		B2R5N1|B4DRR1|O00681|Q13481|Q13834	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1	p.F67L	ENST00000256951.5	37	c.201	CCDS8660.1	12	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626643	0.28978	.	.	ENSG00000134531	ENST00000256951;ENST00000538364;ENST00000396301	D;D;D	0.86297	-2.1;-2.1;-2.1	5.96	4.11	0.48088	.	0.276969	0.46758	D	0.000267	T	0.81394	0.4813	L	0.35593	1.075	0.80722	D	1	D;P	0.52996	0.957;0.775	B;P	0.46718	0.426;0.525	T	0.77480	-0.2572	10	0.10902	T	0.67	-1.2587	12.4748	0.55807	0.0:0.8115:0.0:0.1885	.	67;67	B4DRR1;P54849	.;EMP1_HUMAN	L	67	ENSP00000256951:F67L;ENSP00000441223:F67L;ENSP00000379595:F67L	ENSP00000256951:F67L	F	+	3	2	EMP1	13257907	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.482000	0.45224	1.501000	0.48654	0.655000	0.94253	TTC	EMP1	-	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20		0.532	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP1	HGNC	protein_coding	OTTHUMT00000401019.1	C	NM_001423		13366640	+1	no_errors	ENST00000256951	ensembl	human	known	70_37	missense	SNP	1.000	G
EMP1	2012	genome.wustl.edu	37	12	13366700	13366700	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:13366700C>G	ENST00000256951.5	+	4	460	c.261C>G	c.(259-261)ttC>ttG	p.F87L	EMP1_ENST00000544053.1_Missense_Mutation_p.F20L|EMP1_ENST00000431267.2_Missense_Mutation_p.F20L|EMP1_ENST00000396301.3_Missense_Mutation_p.F87L|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	87					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCCAGCTCTTCACCATGGAGA	0.502																																																	0													230.0	203.0	212.0					12																	13366700		2203	4300	6503	SO:0001583	missense	2012			U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.261C>G	12.37:g.13366700C>G	ENSP00000256951:p.Phe87Leu		B2R5N1|B4DRR1|O00681|Q13481|Q13834	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1	p.F87L	ENST00000256951.5	37	c.261	CCDS8660.1	12	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455776	0.84209	.	.	ENSG00000134531	ENST00000256951;ENST00000431267;ENST00000544053;ENST00000538364;ENST00000396301	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.93726	0.7995	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92957	0.6385	10	0.39692	T	0.17	-33.4748	10.1854	0.42995	0.0:0.794:0.0:0.206	.	87;87	B4DRR1;P54849	.;EMP1_HUMAN	L	87;20;20;87;87	ENSP00000256951:F87L;ENSP00000410755:F20L;ENSP00000445497:F20L;ENSP00000441223:F87L;ENSP00000379595:F87L	ENSP00000256951:F87L	F	+	3	2	EMP1	13257967	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.570000	0.45981	1.530000	0.49136	0.655000	0.94253	TTC	EMP1	-	pfam_PMP22/EMP/MP20/Claudin		0.502	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP1	HGNC	protein_coding	OTTHUMT00000401019.1	C	NM_001423		13366700	+1	no_errors	ENST00000256951	ensembl	human	known	70_37	missense	SNP	1.000	G
EMP1	2012	genome.wustl.edu	37	12	13366732	13366732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:13366732C>G	ENST00000256951.5	+	4	492	c.293C>G	c.(292-294)tCa>tGa	p.S98*	EMP1_ENST00000544053.1_Nonsense_Mutation_p.S31*|EMP1_ENST00000431267.2_Nonsense_Mutation_p.S31*|EMP1_ENST00000396301.3_Nonsense_Mutation_p.S98*|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	98					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TTCTTCCTCTCAGGGGCCACC	0.493																																																	0													154.0	144.0	147.0					12																	13366732		2203	4300	6503	SO:0001587	stop_gained	2012			U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.293C>G	12.37:g.13366732C>G	ENSP00000256951:p.Ser98*		B2R5N1|B4DRR1|O00681|Q13481|Q13834	Nonsense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1	p.S98*	ENST00000256951.5	37	c.293	CCDS8660.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.173633	0.97348	.	.	ENSG00000134531	ENST00000256951;ENST00000431267;ENST00000544053;ENST00000538364;ENST00000396301	.	.	.	5.66	5.66	0.87406	.	0.225191	0.44688	D	0.000423	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.7565	20.1156	0.97930	0.0:1.0:0.0:0.0	.	.	.	.	X	98;31;31;98;98	.	ENSP00000256951:S98X	S	+	2	0	EMP1	13257999	1.000000	0.71417	0.954000	0.39281	0.957000	0.61999	5.075000	0.64407	2.824000	0.97209	0.655000	0.94253	TCA	EMP1	-	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20		0.493	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP1	HGNC	protein_coding	OTTHUMT00000401019.1	C	NM_001423		13366732	+1	no_errors	ENST00000256951	ensembl	human	known	70_37	nonsense	SNP	1.000	G
ENPP1	5167	genome.wustl.edu	37	6	132172328	132172328	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:132172328G>A	ENST00000360971.2	+	4	497	c.477G>A	c.(475-477)ttG>ttA	p.L159L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	159	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGAAAAGGTTGACCAGAAGCC	0.443																																					Colon(104;336 1535 5856 11019 33782)												0													157.0	148.0	151.0					6																	132172328		2203	4300	6503	SO:0001819	synonymous_variant	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.477G>A	6.37:g.132172328G>A			Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.L159	ENST00000360971.2	37	c.477	CCDS5150.2	6																																																																																			ENPP1	-	pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom		0.443	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	G			132172328	+1	no_errors	ENST00000360971	ensembl	human	known	70_37	silent	SNP	0.124	A
LOC388282	388282	genome.wustl.edu	37	16	57850193	57850193	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:57850193G>A	ENST00000564282.1	+	4	652	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CTD-2600O9.1_ENST00000335616.2_Missense_Mutation_p.E38K	NM_001278081.1	NP_001265010.1																					CCAGAAGCCTGAGGAAGTAAG	0.557																																																	0																																										SO:0001583	missense	0																														ENST00000564282.1:c.112G>A	16.37:g.57850193G>A	ENSP00000457453:p.Glu38Lys			Missense_Mutation	SNP	NULL	p.E38K	ENST00000564282.1	37	c.112		16	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849462	0.32699	.	.	ENSG00000187185	ENST00000335616	.	.	.	4.09	-0.353	0.12594	.	.	.	.	.	T	0.30070	0.0753	.	.	.	0.09310	N	0.999992	B	0.14012	0.009	B	0.12837	0.008	T	0.29518	-1.0009	7	0.87932	D	0	.	6.4564	0.21932	0.481:0.0:0.519:0.0	.	38	Q86VG7	.	K	38	.	ENSP00000334077:E38K	E	+	1	0	AC092118.1	56407694	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.127000	0.03251	-0.119000	0.11830	-0.145000	0.13849	GAG	CTD-2600O9.1	-	NULL		0.557	CTD-2600O9.1-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000187185	Clone_based_vega_gene	protein_coding	OTTHUMT00000433167.1	G			57850193	+1	no_errors	ENST00000335616	ensembl	human	known	70_37	missense	SNP	0.000	A
KRT18P54	100418792	genome.wustl.edu	37	4	136292796	136292796	+	RNA	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:136292796C>G	ENST00000385114.2	-	0	40																											CTGTGGTGCTCTCTTCAATCT	0.532																																																	0																																												0																															4.37:g.136292796C>G				RNA	SNP	-	NULL	ENST00000385114.2	37	NULL		4																																																																																			AC108867.1	-	-		0.532	AC108867.1-201	NOVEL	basic	miRNA	ENSG00000207849	Clone_based_ensembl_gene	miRNA		C			136292796	-1	no_errors	ENST00000385114	ensembl	human	novel	70_37	rna	SNP	0.949	G
XXyac-YM21GA2.7	0	genome.wustl.edu	37	9	90473998	90473998	+	RNA	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:90473998G>A	ENST00000399186.2	-	0	316																											CGCCTGGCTGGAAAAGAAGGC	0.622																																																	0																																												0																															9.37:g.90473998G>A				RNA	SNP	-	NULL	ENST00000399186.2	37	NULL		9																																																																																			XXyac-YM21GA2.7	-	-		0.622	XXyac-YM21GA2.7-001	KNOWN	basic	antisense	ENSG00000214888	Clone_based_vega_gene	antisense	OTTHUMT00000397578.1	G			90473998	-1	no_errors	ENST00000399186	ensembl	human	known	70_37	rna	SNP	0.003	A
CBY1	25776	genome.wustl.edu	37	22	39064205	39064205	+	Intron	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:39064205G>C	ENST00000216029.3	+	2	212				RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)						cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					TCtctgaatggaaagtgtggt	0.517																																																	0																																										SO:0001627	intron_variant	0			BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"""chibby CTNNB1-mediated transcription inhibitor"""	607757	"""chromosome 22 open reading frame 2"", ""PKD2 interactor, golgi and endoplasmic reticulum associated 1"""	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.78+68G>C	22.37:g.39064205G>C			B2R4S2|Q66GT6|Q9UIK9	RNA	SNP	-	NULL	ENST00000216029.3	37	NULL	CCDS13974.1	22																																																																																			RP3-508I15.9	-	-		0.517	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228274	Clone_based_vega_gene	protein_coding	OTTHUMT00000320832.1	G	NM_015373		39064205	-1	no_errors	ENST00000422408	ensembl	human	known	70_37	rna	SNP	0.002	C
KMT2E	55904	genome.wustl.edu	37	7	104653477	104653477	+	5'Flank	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:104653477C>T	ENST00000311117.3	+	0	0				KMT2E-AS1_ENST00000453677.1_RNA|KMT2E-AS1_ENST00000585013.1_RNA|KMT2E_ENST00000257745.4_5'Flank|LINC01004_ENST00000450686.1_RNA|KMT2E_ENST00000334914.7_5'Flank|KMT2E_ENST00000476671.1_5'Flank|KMT2E_ENST00000334877.4_5'Flank|LINC01004_ENST00000445184.1_RNA	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CGATCACCATCGTCACTTCTC	0.612																																																	0																																										SO:0001631	upstream_gene_variant	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403		7.37:g.104653477C>T	Exception_encountered		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	RNA	SNP	-	NULL	ENST00000311117.3	37	NULL	CCDS34723.1	7																																																																																			RP11-325F22.3	-	-		0.612	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228393	Clone_based_vega_gene	protein_coding	OTTHUMT00000348697.1	C			104653477	-1	no_errors	ENST00000450686	ensembl	human	known	70_37	rna	SNP	0.893	T
RP13-329D4.3	0	genome.wustl.edu	37	20	26114720	26114720	+	lincRNA	SNP	G	G	A	rs537939706		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:26114720G>A	ENST00000416563.1	-	0	114																											gtcgagctgcggtctccatct	0.612																																																	0																																												0																															20.37:g.26114720G>A				RNA	SNP	-	NULL	ENST00000416563.1	37	NULL		20																																																																																			RP13-329D4.3	-	-		0.612	RP13-329D4.3-001	KNOWN	basic	lincRNA	ENSG00000230440	Clone_based_vega_gene	lincRNA	OTTHUMT00000078482.1	G			26114720	-1	no_errors	ENST00000416563	ensembl	human	known	70_37	rna	SNP	0.002	A
KRT8P47	644743	genome.wustl.edu	37	1	44569468	44569468	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:44569468C>G	ENST00000434244.1	+	0	1465																											GGGAAGCCCTCTGGCCTTTGA	0.612																																																	0																																												0																															1.37:g.44569468C>G				RNA	SNP	-	NULL	ENST00000434244.1	37	NULL		1																																																																																			RP5-1198O20.4	-	-		0.612	RP5-1198O20.4-001	KNOWN	basic	lincRNA	ENSG00000230615	Clone_based_vega_gene	lincRNA	OTTHUMT00000022875.2	C			44569468	+1	no_errors	ENST00000434244	ensembl	human	known	70_37	rna	SNP	1.000	G
RP11-88H9.2	0	genome.wustl.edu	37	1	112539048	112539048	+	lincRNA	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:112539048G>C	ENST00000438293.1	+	0	652																											CTTTCTGGCAGAATGTCAATC	0.463																																																	0																																												0																															1.37:g.112539048G>C				Splice_Site	SNP	-	NULL	ENST00000438293.1	37	c.NULL		1																																																																																			RP11-88H9.1	-	-		0.463	RP11-88H9.2-003	KNOWN	basic|exp_conf	lincRNA	ENSG00000231437	Clone_based_vega_gene	lincRNA	OTTHUMT00000470314.1	G			112539048	+1	no_errors	ENST00000438293	ensembl	human	putative	70_37	splice_site	SNP	0.545	C
TSSK1B	83942	genome.wustl.edu	37	5	112770617	112770617	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:112770617C>G	ENST00000390666.3	-	0	111				MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B						multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCATTTACATCCTGGATAGAG	0.587																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.-81G>C	5.37:g.112770617C>G			B2R8D9	RNA	SNP	-	NULL	ENST00000390666.3	37	NULL	CCDS4112.1	5																																																																																			CTD-2201G3.1	-	-		0.587	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232633	Clone_based_vega_gene	protein_coding	OTTHUMT00000250774.2	C	NM_032028		112770617	+1	no_errors	ENST00000383058	ensembl	human	known	70_37	rna	SNP	0.997	G
ZCCHC24	219654	genome.wustl.edu	37	10	81142152	81142152	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:81142152C>G	ENST00000372336.3	-	0	4861				RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TATACAGATTCTCCAGGAATA	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.*3949G>C	10.37:g.81142152C>G			Q5U5T9|Q8TAG0	RNA	SNP	-	NULL	ENST00000372336.3	37	NULL	CCDS7359.1	10																																																																																			RP11-342M3.5	-	-		0.502	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000235426	Clone_based_vega_gene	protein_coding	OTTHUMT00000048947.1	C	NM_153367		81142152	+1	no_errors	ENST00000438554	ensembl	human	known	70_37	rna	SNP	0.979	G
ZCCHC24	219654	genome.wustl.edu	37	10	81142232	81142232	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:81142232C>T	ENST00000372336.3	-	0	4781				RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						ACGCACCTTCCGAGCTGGGCC	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.*3869G>A	10.37:g.81142232C>T			Q5U5T9|Q8TAG0	RNA	SNP	-	NULL	ENST00000372336.3	37	NULL	CCDS7359.1	10																																																																																			RP11-342M3.5	-	-		0.587	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000235426	Clone_based_vega_gene	protein_coding	OTTHUMT00000048947.1	C	NM_153367		81142232	+1	no_errors	ENST00000438554	ensembl	human	known	70_37	rna	SNP	0.001	T
BX088651.1	0	genome.wustl.edu	37	9	44403103	44403103	+	5'Flank	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:44403103C>T	ENST00000540551.1	-	0	0				RP11-475I24.3_ENST00000435586.1_lincRNA																							TTCCCATACGCGAATGGCAGG	0.468																																																	0																																										SO:0001631	upstream_gene_variant	0																															9.37:g.44403103C>T	Exception_encountered			RNA	SNP	-	NULL	ENST00000540551.1	37	NULL		9																																																																																			RP11-475I24.3	-	-		0.468	BX088651.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000237357	Clone_based_vega_gene	protein_coding		C			44403103	+1	no_errors	ENST00000425309	ensembl	human	known	70_37	rna	SNP	0.185	T
TFAP2E	339488	genome.wustl.edu	37	1	36043012	36043012	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:36043012G>A	ENST00000373235.3	+	3	770				RP4-728D4.2_ENST00000444348.1_RNA	NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CGGCCCTTCCGACGGCACGAG	0.667																																																	0																																										SO:0001627	intron_variant	0			BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.562+2411G>A	1.37:g.36043012G>A				RNA	SNP	-	NULL	ENST00000373235.3	37	NULL	CCDS393.2	1																																																																																			RP4-728D4.2	-	-		0.667	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000239636	Clone_based_vega_gene	protein_coding	OTTHUMT00000012732.1	G	NM_178548		36043012	-1	no_errors	ENST00000444348	ensembl	human	known	70_37	rna	SNP	0.005	A
ZNF785	146540	genome.wustl.edu	37	16	30594797	30594797	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:30594797C>T	ENST00000395216.2	-	3	494				RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Intron	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						ATCAGAAACTCATCCCTGGAT	0.463																																																	0													45.0	52.0	50.0					16																	30594797		2191	4292	6483	SO:0001627	intron_variant	0			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.335-33G>A	16.37:g.30594797C>T			O75701|Q8IW91|Q8WV14|Q96MN0	RNA	SNP	-	NULL	ENST00000395216.2	37	NULL	CCDS10685.1	16																																																																																			AC002310.7	-	-		0.463	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000239791	Clone_based_vega_gene	protein_coding	OTTHUMT00000255529.2	C	NM_152458		30594797	+1	no_errors	ENST00000492040	ensembl	human	known	70_37	rna	SNP	0.001	T
SMURF1	57154	genome.wustl.edu	37	7	98633342	98633342	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:98633342G>A	ENST00000361125.1	-	17	2207				AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Intron|AC004893.11_ENST00000360902.1_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1						BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			ATGATCAGCTGAGGAGGTGCA	0.512																																																	0													49.0	48.0	49.0					7																	98633342		2203	4300	6503	SO:0001627	intron_variant	0			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1888-3C>T	7.37:g.98633342G>A			A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	RNA	SNP	-	NULL	ENST00000361125.1	37	NULL	CCDS34690.1	7																																																																																			AC004893.11	-	-		0.512	SMURF1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000242687	Clone_based_vega_gene	protein_coding	OTTHUMT00000335001.2	G	NM_020429		98633342	+1	no_errors	ENST00000360902	ensembl	human	known	70_37	rna	SNP	0.998	A
MTHFD2P1	100287639	genome.wustl.edu	37	3	95374279	95374279	+	RNA	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:95374279C>G	ENST00000494840.1	-	0	1582					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		CAACCACATTCTTCCCTAGGG	0.473																																																	0																																												0					3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374279C>G				RNA	SNP	-	NULL	ENST00000494840.1	37	NULL		3																																																																																			RP11-219E24.1	-	-		0.473	MTHFD2P1-002	KNOWN	basic	processed_transcript	ENSG00000244681	Clone_based_vega_gene	pseudogene	OTTHUMT00000352943.1	C			95374279	-1	no_errors	ENST00000494840	ensembl	human	known	70_37	rna	SNP	1.000	G
ATG101	60673	genome.wustl.edu	37	12	52470998	52470998	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:52470998C>G	ENST00000336854.4	+	0	1159				OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN							autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TCTGGGAGCTCCTTGATGGCT	0.582																																																	0													38.0	39.0	39.0					12																	52470998		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0																														ENST00000336854.4:c.*24C>G	12.37:g.52470998C>G			Q9HAE2|Q9HBN1	RNA	SNP	-	NULL	ENST00000336854.4	37	NULL	CCDS8820.1	12																																																																																			RP11-1100L3.7	-	-		0.582	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257663	Clone_based_vega_gene	protein_coding	OTTHUMT00000405063.1	C			52470998	-1	no_errors	ENST00000550301	ensembl	human	putative	70_37	rna	SNP	0.010	G
AP1G2	8906	genome.wustl.edu	37	14	24034779	24034779	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:24034779C>T	ENST00000308724.5	-	6	1497				AP1G2_ENST00000556277.1_Intron|AP1G2_ENST00000397120.3_Intron|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TATGCCCTCTCTGATCCAGGG	0.547																																																	0													46.0	40.0	42.0					14																	24034779		2203	4300	6503	SO:0001627	intron_variant	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.741+35G>A	14.37:g.24034779C>T			D3DS51|O75504	RNA	SNP	-	NULL	ENST00000308724.5	37	NULL	CCDS9602.1	14																																																																																			RP11-66N24.3	-	-		0.547	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258727	Clone_based_vega_gene	protein_coding	OTTHUMT00000071812.4	C	NM_003917		24034779	+1	no_errors	ENST00000555968	ensembl	human	known	70_37	rna	SNP	0.000	T
ABHD12B	145447	genome.wustl.edu	37	14	51353299	51353299	+	Intron	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:51353299C>A	ENST00000337334.2	+	8	677				ABHD12B_ENST00000353130.1_Intron|ABHD12B_ENST00000554241.1_Intron|ABHD12B_ENST00000395752.1_Intron|PYGL_ENST00000532462.1_Intron	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B								hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					atcagatgctcaTACCAGAAG	0.373																																																	0													159.0	131.0	140.0					14																	51353299		692	1591	2283	SO:0001627	intron_variant	0			BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.663-66C>A	14.37:g.51353299C>A			Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	RNA	SNP	-	NULL	ENST00000337334.2	37	NULL	CCDS55916.1	14																																																																																			RP11-218E20.6	-	-		0.373	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000258398	Clone_based_vega_gene	protein_coding	OTTHUMT00000411030.1	C			51353299	-1	no_errors	ENST00000554141	ensembl	human	known	70_37	rna	SNP	0.004	A
DNM1P47	100216544	genome.wustl.edu	37	15	102294483	102294483	+	RNA	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:102294483G>T	ENST00000561463.1	+	0	2529									DNM1 pseudogene 47																		AGACTCGCGTGGGAAGAAGAA	0.587																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294483G>T				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	G	NG_009149		102294483	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	0.578	T
RP11-77K12.5	0	genome.wustl.edu	37	16	75538661	75538661	+	RNA	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:75538661C>T	ENST00000571737.1	-	0	360																											TAACTGGGATCCCGGGACAGG	0.547																																																	0																																												0																															16.37:g.75538661C>T				RNA	SNP	-	NULL	ENST00000571737.1	37	NULL		16																																																																																			RP11-77K12.5	-	-		0.547	RP11-77K12.5-002	KNOWN	basic	processed_transcript	ENSG00000262583	Clone_based_vega_gene	pseudogene	OTTHUMT00000439454.1	C			75538661	-1	no_errors	ENST00000571737	ensembl	human	known	70_37	rna	SNP	0.990	T
EEF1GP5	642357	genome.wustl.edu	37	X	114938152	114938152	+	RNA	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:114938152C>T	ENST00000580961.1	+	0	21																											GCAATCTCATCACTGGAATGT	0.488																																																	0																																												0																															X.37:g.114938152C>T				RNA	SNP	-	NULL	ENST00000580961.1	37	NULL		X																																																																																			AC005000.2	-	-		0.488	AC005000.2-201	NOVEL	basic	miRNA	ENSG00000264759	Clone_based_ensembl_gene	miRNA		C			114938152	+1	no_errors	ENST00000580961	ensembl	human	novel	70_37	rna	SNP	1.000	T
KRT18P52	100418769	genome.wustl.edu	37	2	32048104	32048104	+	RNA	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:32048104C>T	ENST00000580521.1	-	0	71																											GCTCCAACCTCGGTGGACTGT	0.517																																																	0																																												0																															2.37:g.32048104C>T				RNA	SNP	-	NULL	ENST00000580521.1	37	NULL		2																																																																																			AL121652.3	-	-		0.517	AL121652.3-201	NOVEL	basic	miRNA	ENSG00000265267	Clone_based_ensembl_gene	miRNA		C			32048104	-1	no_errors	ENST00000580521	ensembl	human	novel	70_37	rna	SNP	0.000	T
AL359987.1	0	genome.wustl.edu	37	6	93354509	93354509	+	RNA	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:93354509C>A	ENST00000583000.1	+	0	51																											GCAGCGCCATCCACCTTCTGT	0.547											OREG0017571	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												0																															6.37:g.93354509C>A		1297		RNA	SNP	-	NULL	ENST00000583000.1	37	NULL		6																																																																																			AL359987.1	-	-		0.547	AL359987.1-201	NOVEL	basic	miRNA	ENSG00000265419	Clone_based_ensembl_gene	miRNA		C			93354509	+1	no_errors	ENST00000583000	ensembl	human	novel	70_37	rna	SNP	0.224	A
AC015849.16	0	genome.wustl.edu	37	17	34233433	34233433	+	lincRNA	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:34233433G>A	ENST00000587132.1	-	0	4594																											GTTGGAGGCTGAACTTCCTCA	0.458																																																	0																																												0																															17.37:g.34233433G>A				RNA	SNP	-	NULL	ENST00000587132.1	37	NULL		17																																																																																			AC015849.16	-	-		0.458	AC015849.16-001	KNOWN	basic	lincRNA	ENSG00000266999	Clone_based_vega_gene	lincRNA	OTTHUMT00000449325.1	G			34233433	-1	no_errors	ENST00000587132	ensembl	human	known	70_37	rna	SNP	0.012	A
AL133373.1	0	genome.wustl.edu	37	14	92040885	92040885	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:92040885G>C	ENST00000596306.1	-	1	498	c.72C>G	c.(70-72)ctC>ctG	p.L24L																								CGGCCCCAGTGAGCAGAAGAG	0.597																																																	0													15.0	17.0	16.0					14																	92040885		1946	4145	6091	SO:0001819	synonymous_variant	0																														ENST00000596306.1:c.72C>G	14.37:g.92040885G>C				Silent	SNP	NULL	p.L24	ENST00000596306.1	37	c.72		14																																																																																			AL133373.1	-	NULL		0.597	AL133373.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268657	Clone_based_ensembl_gene	protein_coding		G			92040885	-1	no_errors	ENST00000596306	ensembl	human	known	70_37	silent	SNP	0.001	C
AL133373.1	0	genome.wustl.edu	37	14	92040948	92040948	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:92040948G>A	ENST00000596306.1	-	1	435	c.9C>T	c.(7-9)gtC>gtT	p.V3V																								CTAATTTAGGGACACTCATGG	0.562																																																	0													9.0	10.0	10.0					14																	92040948		1934	4124	6058	SO:0001819	synonymous_variant	0																														ENST00000596306.1:c.9C>T	14.37:g.92040948G>A				Silent	SNP	NULL	p.V3	ENST00000596306.1	37	c.9		14																																																																																			AL133373.1	-	NULL		0.562	AL133373.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268657	Clone_based_ensembl_gene	protein_coding		G			92040948	-1	no_errors	ENST00000596306	ensembl	human	known	70_37	silent	SNP	0.001	A
ENY2	56943	genome.wustl.edu	37	8	110346687	110346687	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:110346687C>G	ENST00000521688.1	+	0	135				ENY2_ENST00000520147.1_Intron|NUDCD1_ENST00000239690.4_5'Flank|ENY2_ENST00000521662.1_Intron|ENY2_ENST00000522407.1_3'UTR	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1			enhancer of yellow 2 homolog (Drosophila)											endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			GGACGGCCCTCGCCCGCGGTG	0.647																																																	0													42.0	48.0	46.0					8																	110346687		2017	4165	6182	SO:0001623	5_prime_UTR_variant	56943				CCDS43762.1, CCDS55270.1	8q23.1	2005-08-16			ENSG00000120533	ENSG00000120533			24449	protein-coding gene	gene with protein product						11438676	Standard	NM_020189		Approved	DC6, FLJ20480	uc003ynd.3	Q9NPA8	OTTHUMG00000164933	ENST00000521688.1:c.-11C>G	8.37:g.110346687C>G				RNA	SNP	-	NULL	ENST00000521688.1	37	NULL	CCDS43762.1	8																																																																																			ENY2	-	-		0.647	ENY2-001	KNOWN	basic|CCDS	protein_coding	ENY2	HGNC	protein_coding	OTTHUMT00000381003.1	C	NM_020189		110346687	+1	no_errors	ENST00000517756	ensembl	human	known	70_37	rna	SNP	1.000	G
EP400	57634	genome.wustl.edu	37	12	132530070	132530070	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:132530070G>A	ENST00000333577.4	+	39	7208	c.7099G>A	c.(7099-7101)Gag>Aag	p.E2367K	EP400_ENST00000389562.2_Missense_Mutation_p.E2330K|EP400_ENST00000389561.2_Missense_Mutation_p.E2331K|EP400_ENST00000332482.4_Missense_Mutation_p.E2294K|EP400_ENST00000330386.6_Missense_Mutation_p.E2250K			Q96L91	EP400_HUMAN	E1A binding protein p400	2367	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGACAACCCCGAGTGGCTCAT	0.572																																																	0													63.0	62.0	63.0					12																	132530070		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7099G>A	12.37:g.132530070G>A	ENSP00000333602:p.Glu2367Lys		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E2367K	ENST00000333577.4	37	c.7099		12	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019752	0.54576	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.61	5.61	0.85477	.	0.049177	0.85682	D	0.000000	T	0.58104	0.2099	M	0.84683	2.71	0.45227	D	0.998231	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.46825	0.528;0.528;0.528	T	0.67577	-0.5635	10	0.72032	D	0.01	.	19.6322	0.95713	0.0:0.0:1.0:0.0	.	2331;2250;2330	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	K	2367;2331;2330;2294;2250;2331	ENSP00000333602:E2367K;ENSP00000374212:E2331K;ENSP00000374213:E2330K;ENSP00000331737:E2294K;ENSP00000330620:E2250K	ENSP00000330620:E2250K	E	+	1	0	EP400	131096023	1.000000	0.71417	0.965000	0.40720	0.441000	0.31987	9.461000	0.97646	2.652000	0.90054	0.655000	0.94253	GAG	EP400	-	superfamily_Homeodomain-like,pfscan_Myb-like_dom		0.572	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		G	NM_015409		132530070	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	A
EPHA2	1969	genome.wustl.edu	37	1	16459997	16459997	+	Missense_Mutation	SNP	G	G	C	rs373953344		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:16459997G>C	ENST00000358432.5	-	10	1997	c.1843C>G	c.(1843-1845)Cgg>Ggg	p.R615G		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	615	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACCTTCTGCCGAGTGACACAG	0.607																																																	0													76.0	69.0	72.0					1																	16459997		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1843C>G	1.37:g.16459997G>C	ENSP00000351209:p.Arg615Gly		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R615G	ENST00000358432.5	37	c.1843	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797005	0.70567	.	.	ENSG00000142627	ENST00000358432	D	0.82619	-1.63	5.62	4.68	0.58851	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.243966	0.28983	N	0.013518	T	0.79707	0.4492	L	0.47190	1.495	0.41960	D	0.990701	P	0.43973	0.823	B	0.42827	0.399	T	0.80770	-0.1234	10	0.59425	D	0.04	.	12.1894	0.54261	0.0:0.0:0.6794:0.3206	.	615	P29317	EPHA2_HUMAN	G	615	ENSP00000351209:R615G	ENSP00000351209:R615G	R	-	1	2	EPHA2	16332584	0.983000	0.35010	0.926000	0.36857	0.995000	0.86356	2.881000	0.48538	1.316000	0.45131	0.655000	0.94253	CGG	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	G	NM_004431		16459997	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	0.926	C
EPHA8	2046	genome.wustl.edu	37	1	22920082	22920082	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:22920082C>G	ENST00000166244.3	+	7	1578	c.1506C>G	c.(1504-1506)ctC>ctG	p.L502L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	502	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTCCGGCCTCAAGCCGGGCA	0.682																																																	0													26.0	28.0	27.0					1																	22920082		2196	4297	6493	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1506C>G	1.37:g.22920082C>G			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L502	ENST00000166244.3	37	c.1506	CCDS225.1	1																																																																																			EPHA8	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.682	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	C	NM_020526		22920082	+1	no_errors	ENST00000166244	ensembl	human	known	70_37	silent	SNP	0.998	G
EPHB3	2049	genome.wustl.edu	37	3	184298864	184298864	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:184298864C>G	ENST00000330394.2	+	14	3095	c.2643C>G	c.(2641-2643)ctC>ctG	p.L881L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	881	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACCGGAACCTCAGGCCCAAAT	0.587																																																	0													77.0	84.0	81.0					3																	184298864		2203	4300	6503	SO:0001819	synonymous_variant	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2643C>G	3.37:g.184298864C>G			Q7Z740	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L881	ENST00000330394.2	37	c.2643	CCDS3268.1	3																																																																																			EPHB3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	C	NM_004443		184298864	+1	no_errors	ENST00000330394	ensembl	human	known	70_37	silent	SNP	1.000	G
EPHB4	2050	genome.wustl.edu	37	7	100401185	100401185	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100401185C>T	ENST00000358173.3	-	17	3330	c.2862G>A	c.(2860-2862)ctG>ctA	p.L954L	EPHB4_ENST00000360620.3_Silent_p.L902L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	954	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTGTCCCGCCAGAGTGACTC	0.617																																					GBM(200;2113 3072 25865 52728)												0													37.0	37.0	37.0					7																	100401185		2203	4300	6503	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2862G>A	7.37:g.100401185C>T			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L954	ENST00000358173.3	37	c.2862	CCDS5706.1	7																																																																																			EPHB4	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM		0.617	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	C	NM_004444		100401185	-1	no_errors	ENST00000358173	ensembl	human	known	70_37	silent	SNP	1.000	T
EPOR	2057	genome.wustl.edu	37	19	11491610	11491610	+	Silent	SNP	G	G	T	rs574109825		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:11491610G>T	ENST00000222139.6	-	6	881	c.777C>A	c.(775-777)ctC>ctA	p.L259L	EPOR_ENST00000592375.2_Silent_p.L259L	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	259					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GGATGACCACGAGGATGAGGG	0.682											OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63.0	43.0	50.0					19																	11491610		2081	4128	6209	SO:0001819	synonymous_variant	2057			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.777C>A	19.37:g.11491610G>T		672	B2RCG4|Q15443|Q2M205	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3	p.L259	ENST00000222139.6	37	c.777	CCDS12260.1	19																																																																																			EPOR	-	pirsf_Erythropoietin_rcpt		0.682	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPOR	HGNC	protein_coding	OTTHUMT00000458791.1	G			11491610	-1	no_errors	ENST00000222139	ensembl	human	known	70_37	silent	SNP	0.831	T
EPOR	2057	genome.wustl.edu	37	19	11492424	11492424	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:11492424G>A	ENST00000222139.6	-	4	633	c.529C>T	c.(529-531)Cac>Tac	p.H177Y	EPOR_ENST00000592375.2_Missense_Mutation_p.H177Y	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	177	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	TAGCGGATGTGAGACGTCATG	0.692											OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													23.0	20.0	21.0					19																	11492424		2203	4296	6499	SO:0001583	missense	2057			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.529C>T	19.37:g.11492424G>A	ENSP00000222139:p.His177Tyr	672	B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3	p.H177Y	ENST00000222139.6	37	c.529	CCDS12260.1	19	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915284	0.33815	.	.	ENSG00000187266	ENST00000222139	T	0.55760	0.5	4.9	1.33	0.21861	Fibronectin, type III (4);Long hematopoietin receptor, single chain, conserved site (1);Immunoglobulin-like fold (1);	0.392675	0.30036	N	0.010576	T	0.35566	0.0936	N	0.19112	0.55	0.09310	N	1	B	0.33777	0.425	P	0.46510	0.519	T	0.38478	-0.9659	10	0.06099	T	0.92	-31.0275	3.0413	0.06139	0.0995:0.1783:0.5381:0.1841	.	177	P19235	EPOR_HUMAN	Y	177	ENSP00000222139:H177Y	ENSP00000222139:H177Y	H	-	1	0	EPOR	11353424	0.929000	0.31497	0.021000	0.16686	0.183000	0.23260	2.003000	0.40844	1.045000	0.40225	0.305000	0.20034	CAC	EPOR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3		0.692	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPOR	HGNC	protein_coding	OTTHUMT00000458791.1	G			11492424	-1	no_errors	ENST00000222139	ensembl	human	known	70_37	missense	SNP	0.000	A
EPN1	29924	genome.wustl.edu	37	19	56203149	56203149	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:56203149C>T	ENST00000270460.6	+	7	1103	c.792C>T	c.(790-792)ttC>ttT	p.F264F	AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000085079.7_Silent_p.F239F|EPN1_ENST00000411543.2_Silent_p.F350F	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	264					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CTGACGTCTTCACGGCCCCAG	0.687																																																	0													58.0	66.0	63.0					19																	56203149		1970	4132	6102	SO:0001819	synonymous_variant	29924			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.792C>T	19.37:g.56203149C>T			Q86ST3|Q9HA18	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.F350	ENST00000270460.6	37	c.1050	CCDS46199.1	19																																																																																			EPN1	-	NULL		0.687	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	C	NM_013333		56203149	+1	no_errors	ENST00000411543	ensembl	human	known	70_37	silent	SNP	0.998	T
EPPK1	83481	genome.wustl.edu	37	8	144940827	144940827	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144940827C>T	ENST00000525985.1	-	2	6666	c.6595G>A	c.(6595-6597)Gac>Aac	p.D2199N				P58107	EPIPL_HUMAN	epiplakin 1	2199						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTTTCCAGGTCCTGGAGCATT	0.582																																																	0													201.0	210.0	207.0					8																	144940827		2036	4189	6225	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6595G>A	8.37:g.144940827C>T	ENSP00000436337:p.Asp2199Asn		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.D2199N	ENST00000525985.1	37	c.6595		8	.	.	.	.	.	.	.	.	.	.	C	9.792	1.178301	0.21787	.	.	ENSG00000227184	ENST00000525985	T	0.68181	-0.31	4.66	2.78	0.32641	.	.	.	.	.	T	0.62696	0.2449	M	0.62723	1.935	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.51450	-0.8704	9	0.28530	T	0.3	.	12.4602	0.55727	0.0:0.6761:0.3239:0.0	.	2199	E9PPU0	.	N	2199	ENSP00000436337:D2199N	ENSP00000436337:D2199N	D	-	1	0	EPPK1	145012815	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.267000	0.08619	0.526000	0.28541	0.585000	0.79938	GAC	EPPK1	-	NULL		0.582	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144940827	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.001	T
EPPK1	83481	genome.wustl.edu	37	8	144943471	144943471	+	Silent	SNP	G	G	A	rs369368390		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144943471G>A	ENST00000525985.1	-	2	4022	c.3951C>T	c.(3949-3951)ctC>ctT	p.L1317L				P58107	EPIPL_HUMAN	epiplakin 1	1317						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGCCTGCCCGAGCTGCTCAC	0.647																																																	0								A		2,3902		0,2,1950	52.0	60.0	57.0		3951	-2.6	0.0	8		57	0,8248		0,0,4124	no	coding-synonymous	EPPK1	NM_031308.1		0,2,6074	AA,AG,GG		0.0,0.0512,0.0165		1317/2420	144943471	2,12150	1952	4124	6076	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3951C>T	8.37:g.144943471G>A			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.L1317	ENST00000525985.1	37	c.3951		8																																																																																			EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144943471	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	silent	SNP	0.000	A
ERBB2IP	55914	genome.wustl.edu	37	5	65307894	65307894	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:65307894G>A	ENST00000284037.5	+	5	714	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E109K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E109K|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E109K|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.E109K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E109K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E109K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E109K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E109K|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E109K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	109					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GGAGTTTCCAGAAAATATAAA	0.289																																																	0													34.0	39.0	37.0					5																	65307894		2195	4276	6471	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.325G>A	5.37:g.65307894G>A	ENSP00000284037:p.Glu109Lys		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E109K	ENST00000284037.5	37	c.325	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.230835	0.95207	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.35789	1.84;1.84;1.84;1.84;1.84;1.84;1.29;1.84;1.84;1.84	5.74	5.74	0.90152	.	0.044020	0.85682	D	0.000000	T	0.46268	0.1384	N	0.12920	0.275	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.987;0.998;0.967;0.999;0.998;0.999;1.0;0.995	D;D;P;D;D;D;D;P	0.87578	0.971;0.948;0.874;0.998;0.951;0.996;0.971;0.889	T	0.52631	-0.8550	10	0.72032	D	0.01	.	18.7065	0.91640	0.0:0.0:1.0:0.0	.	109;109;109;109;109;109;109;109	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	K	109	ENSP00000284037:E109K;ENSP00000370330:E109K;ENSP00000397833:E109K;ENSP00000370326:E109K;ENSP00000370323:E109K;ENSP00000370322:E109K;ENSP00000370325:E109K;ENSP00000422766:E109K;ENSP00000426632:E109K;ENSP00000422015:E109K	ENSP00000284037:E109K	E	+	1	0	ERBB2IP	65343650	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.986000	0.88173	2.703000	0.92315	0.655000	0.94253	GAA	ERBB2IP	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.289	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	G	NM_018695		65307894	+1	no_errors	ENST00000284037	ensembl	human	known	70_37	missense	SNP	1.000	A
ERBB3	2065	genome.wustl.edu	37	12	56495457	56495457	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56495457C>T	ENST00000267101.3	+	28	4087	c.3647C>T	c.(3646-3648)tCc>tTc	p.S1216F	PA2G4_ENST00000552766.1_5'Flank|RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000450146.2_Missense_Mutation_p.S573F|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.S457F|ERBB3_ENST00000415288.2_Missense_Mutation_p.S1157F|ERBB3_ENST00000549832.1_Missense_Mutation_p.S336F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1216					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGGCCAAGTTCCCTTGAGGAG	0.532																																																	0													99.0	86.0	90.0					12																	56495457		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3647C>T	12.37:g.56495457C>T	ENSP00000267101:p.Ser1216Phe		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1216F	ENST00000267101.3	37	c.3647	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945582	0.53079	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.81415	-1.31;-1.27;-1.3;-1.49;-1.24	5.63	4.75	0.60458	.	0.000000	0.64402	D	0.000004	T	0.70465	0.3227	L	0.29908	0.895	0.58432	D	0.999995	B;B;B	0.13594	0.008;0.006;0.005	B;B;B	0.16289	0.015;0.008;0.006	T	0.66089	-0.6010	10	0.45353	T	0.12	.	11.7665	0.51933	0.0:0.9176:0.0:0.0824	.	1157;336;1216	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	F	1216;573;1157;339;457;336	ENSP00000267101:S1216F;ENSP00000399178:S573F;ENSP00000408340:S1157F;ENSP00000449129:S457F;ENSP00000448729:S336F	ENSP00000267101:S1216F	S	+	2	0	ERBB3	54781724	1.000000	0.71417	0.984000	0.44739	0.743000	0.42351	3.594000	0.54008	1.387000	0.46486	-0.136000	0.14681	TCC	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.532	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	C			56495457	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.999	T
ERBB3	2065	genome.wustl.edu	37	12	56495503	56495503	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56495503C>T	ENST00000267101.3	+	28	4133	c.3693C>T	c.(3691-3693)ctC>ctT	p.L1231L	PA2G4_ENST00000552766.1_5'Flank|RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000450146.2_Silent_p.L588L|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000553131.1_Silent_p.L472L|ERBB3_ENST00000415288.2_Silent_p.L1172L|ERBB3_ENST00000549832.1_Silent_p.L351L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1231					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGTCAGACCTCAGTGCCTCTC	0.532																																																	0													100.0	82.0	88.0					12																	56495503		2203	4300	6503	SO:0001819	synonymous_variant	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3693C>T	12.37:g.56495503C>T			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L1231	ENST00000267101.3	37	c.3693	CCDS31833.1	12																																																																																			ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.532	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	C			56495503	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	silent	SNP	1.000	T
ERBB3	2065	genome.wustl.edu	37	12	56495513	56495513	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56495513C>A	ENST00000267101.3	+	28	4143	c.3703C>A	c.(3703-3705)Ctg>Atg	p.L1235M	PA2G4_ENST00000552766.1_5'Flank|RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000450146.2_Missense_Mutation_p.L592M|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.L476M|ERBB3_ENST00000415288.2_Missense_Mutation_p.L1176M|ERBB3_ENST00000549832.1_Missense_Mutation_p.L355M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1235					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGTGCCTCTCTGGGCAGCAC	0.552																																																	0													98.0	80.0	86.0					12																	56495513		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3703C>A	12.37:g.56495513C>A	ENSP00000267101:p.Leu1235Met		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L1235M	ENST00000267101.3	37	c.3703	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125154	0.37533	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.80994	-1.27;-1.22;-1.26;-1.44;-1.2	5.63	4.56	0.56223	.	0.320123	0.23854	N	0.043910	T	0.80325	0.4602	N	0.19112	0.55	0.26494	N	0.974884	D;D;D	0.76494	0.997;0.999;0.995	D;D;P	0.66196	0.931;0.942;0.854	T	0.72293	-0.4336	10	0.49607	T	0.09	.	12.4028	0.55422	0.0:0.9064:0.0:0.0936	.	1176;355;1235	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	M	1235;592;1176;358;476;355	ENSP00000267101:L1235M;ENSP00000399178:L592M;ENSP00000408340:L1176M;ENSP00000449129:L476M;ENSP00000448729:L355M	ENSP00000267101:L1235M	L	+	1	2	ERBB3	54781780	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.340000	0.33896	2.650000	0.89964	0.655000	0.94253	CTG	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.552	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	C			56495513	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	1.000	A
ERC2	26059	genome.wustl.edu	37	3	55544664	55544664	+	3'UTR	SNP	G	G	C	rs570191681	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:55544664G>C	ENST00000288221.6	-	0	3809				ERC2_ENST00000486496.1_5'UTR	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACCTGGCCCAGAGGTGACTAC	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.*680C>G	3.37:g.55544664G>C			Q2T9F6|Q86TK4	RNA	SNP	-	NULL	ENST00000288221.6	37	NULL	CCDS46851.1	3																																																																																			ERC2	-	-		0.413	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	G	NM_015576		55544664	-1	no_errors	ENST00000469720	ensembl	human	known	70_37	rna	SNP	1.000	C
ERGIC3	51614	genome.wustl.edu	37	20	34136939	34136939	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:34136939G>A	ENST00000348547.2	+	7	762				ERGIC3_ENST00000279052.6_Intron|ERGIC3_ENST00000357394.4_Intron|ERGIC3_ENST00000447986.1_Missense_Mutation_p.M236I|ERGIC3_ENST00000482338.1_Intron	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3						vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ggttaaagatgatagcacgga	0.458																																																	0																																										SO:0001627	intron_variant	51614			AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"""serologically defined breast cancer antigen 84"", ""chromosome 20 open reading frame 47"""	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.685+321G>A	20.37:g.34136939G>A			Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Missense_Mutation	SNP	pfam_DUF1692	p.M236I	ENST00000348547.2	37	c.708	CCDS13257.1	20	.	.	.	.	.	.	.	.	.	.	g	4.932	0.173213	0.09391	.	.	ENSG00000125991	ENST00000447986	T	0.41758	0.99	1.68	-0.452	0.12205	.	.	.	.	.	T	0.24661	0.0598	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18272	-1.0342	8	0.37606	T	0.19	.	4.0288	0.09700	0.4314:0.0:0.5686:0.0	.	236	E9PFA8	.	I	236	ENSP00000392341:M236I	ENSP00000392341:M236I	M	+	3	0	ERGIC3	33600353	0.000000	0.05858	0.001000	0.08648	0.478000	0.33099	-0.804000	0.04535	-0.109000	0.12044	0.298000	0.19748	ATG	ERGIC3	-	pfam_DUF1692		0.458	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC3	HGNC	protein_coding	OTTHUMT00000078880.2	G	NM_015966		34136939	+1	no_errors	ENST00000447986	ensembl	human	known	70_37	missense	SNP	0.001	A
ESPL1	9700	genome.wustl.edu	37	12	53662644	53662644	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:53662644C>T	ENST00000257934.4	+	2	172				ESPL1_ENST00000552462.1_Intron	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)						apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGGGGTGCTGCCTGGCTCGGG	0.517																																					Colon(53;1069 1201 2587 5382)												0													31.0	30.0	31.0					12																	53662644		2203	4300	6503	SO:0001627	intron_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.81+13C>T	12.37:g.53662644C>T				Missense_Mutation	SNP	NULL	p.P32S	ENST00000257934.4	37	c.94	CCDS8852.1	12																																																																																			ESPL1	-	NULL		0.517	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	C	NM_012291		53662644	+1	no_errors	ENST00000552671	ensembl	human	known	70_37	missense	SNP	0.000	T
EXT1	2131	genome.wustl.edu	37	8	118825165	118825165	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:118825165G>A	ENST00000378204.2	-	8	2474	c.1668C>T	c.(1666-1668)atC>atT	p.I556I		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	556					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CGTCTGTGATGATGTTGTCGT	0.537			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													162.0	124.0	137.0					8																	118825165		2203	4300	6503	SO:0001819	synonymous_variant	2131	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1668C>T	8.37:g.118825165G>A			B2R7V2|Q9BVI9	Silent	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.I556	ENST00000378204.2	37	c.1668	CCDS6324.1	8																																																																																			EXT1	-	pfam_HexNAc_Trfase_a		0.537	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	G	NM_000127		118825165	-1	no_errors	ENST00000378204	ensembl	human	known	70_37	silent	SNP	0.084	A
EYS	346007	genome.wustl.edu	37	6	64498954	64498954	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:64498954C>T	ENST00000370621.3	-	38	8101	c.7575G>A	c.(7573-7575)ctG>ctA	p.L2525L	EYS_ENST00000370616.2_Silent_p.L2525L|EYS_ENST00000503581.1_Silent_p.L2525L|EYS_ENST00000486069.1_5'UTR			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2525	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						TCTTTACCTTCAGCCAGCCCT	0.498																																																	0													83.0	74.0	77.0					6																	64498954		692	1591	2283	SO:0001819	synonymous_variant	346007				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.7575G>A	6.37:g.64498954C>T			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L2525	ENST00000370621.3	37	c.7575		6																																																																																			EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.498	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		64498954	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	silent	SNP	0.999	T
EZH1	2145	genome.wustl.edu	37	17	40879727	40879727	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:40879727C>T	ENST00000428826.2	-	4	293	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	EZH1_ENST00000592743.1_Missense_Mutation_p.E58K|EZH1_ENST00000585893.1_Missense_Mutation_p.E58K|EZH1_ENST00000435174.1_5'UTR|EZH1_ENST00000415827.2_Missense_Mutation_p.E58K|EZH1_ENST00000590078.1_5'UTR			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	58					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTCCATTCTTCATTGAGGATC	0.378																																																	0													87.0	89.0	88.0					17																	40879727		2203	4300	6503	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.172G>A	17.37:g.40879727C>T	ENSP00000404658:p.Glu58Lys		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.E58K	ENST00000428826.2	37	c.172	CCDS32659.1	17	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858337	0.32791	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827	D;D	0.85556	-2.0;-2.0	4.58	4.58	0.56647	.	0.092240	0.64402	D	0.000001	T	0.80253	0.4589	L	0.47716	1.5	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.12156	0.004;0.007;0.007	T	0.74551	-0.3628	10	0.10636	T	0.68	.	17.5059	0.87745	0.0:1.0:0.0:0.0	.	58;64;58	Q92800-3;Q92800-2;Q92800	.;.;EZH1_HUMAN	K	61;58;58	ENSP00000404658:E58K;ENSP00000407869:E58K	ENSP00000264646:E61K	E	-	1	0	EZH1	38133253	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.089000	0.41672	2.530000	0.85305	0.544000	0.68410	GAA	EZH1	-	pfam_EZH2_WD-Binding		0.378	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	C	NM_001991		40879727	-1	no_errors	ENST00000428826	ensembl	human	known	70_37	missense	SNP	1.000	T
F12	2161	genome.wustl.edu	37	5	176832361	176832361	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:176832361G>A	ENST00000253496.3	-	5	408	c.360C>T	c.(358-360)ctC>ctT	p.L120L	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	120	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GTTGTGGACAGAGACAGTGGG	0.602									Hereditary Angioedema																																								0													76.0	69.0	71.0					5																	176832361		2203	4300	6503	SO:0001819	synonymous_variant	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.360C>T	5.37:g.176832361G>A			P78339	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.L120	ENST00000253496.3	37	c.360	CCDS34302.1	5																																																																																			F12	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom		0.602	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F12	HGNC	protein_coding	OTTHUMT00000373217.1	G			176832361	-1	no_errors	ENST00000253496	ensembl	human	known	70_37	silent	SNP	0.999	A
FABP1	2168	genome.wustl.edu	37	2	88427534	88427534	+	Start_Codon_SNP	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:88427534C>T	ENST00000295834.3	-	1	101	c.3G>A	c.(1-3)atG>atA	p.M1I	FABP1_ENST00000393750.3_Start_Codon_SNP_p.M1I|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	1					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CGGAGAAACTCATGGTGGCAA	0.537																																																	0													158.0	137.0	144.0					2																	88427534		2203	4300	6503	SO:0001582	initiator_codon_variant	2168			M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.3G>A	2.37:g.88427534C>T	ENSP00000295834:p.Met1Ile			Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.M1I	ENST00000295834.3	37	c.3	CCDS2001.1	2	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475879	0.63737	.	.	ENSG00000163586	ENST00000295834;ENST00000393750	T;T	0.16324	2.35;2.35	5.66	5.66	0.87406	Calycin (1);	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	.	.	.	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.921;0.998	T	0.43147	-0.9409	9	0.87932	D	0	.	18.3119	0.90203	0.0:1.0:0.0:0.0	.	1;1	A8MW49;P07148	.;FABPL_HUMAN	I	1	ENSP00000295834:M1I;ENSP00000377351:M1I	ENSP00000295834:M1I	M	-	3	0	FABP1	88208649	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	6.941000	0.75922	2.668000	0.90789	0.655000	0.94253	ATG	FABP1	-	NULL		0.537	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP1	HGNC	protein_coding	OTTHUMT00000252660.1	C	NM_001443	Missense_Mutation	88427534	-1	no_errors	ENST00000295834	ensembl	human	known	70_37	missense	SNP	1.000	T
FADS1	3992	genome.wustl.edu	37	11	61570319	61570319	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:61570319C>G	ENST00000350997.7	-	11	1640	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	FADS2_ENST00000574708.1_Intron|FADS1_ENST00000536991.1_Missense_Mutation_p.E161Q|FADS1_ENST00000542506.1_Missense_Mutation_p.E329Q|FADS1_ENST00000433932.1_Missense_Mutation_p.E329Q|FADS1_ENST00000460649.1_Missense_Mutation_p.E115Q	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	413					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GACTGGTACTCTATGCCATGC	0.552																																																	0													102.0	101.0	101.0					11																	61570319		2105	4231	6336	SO:0001583	missense	3992				CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1408G>C	11.37:g.61570319C>G	ENSP00000322229:p.Glu470Gln		A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5,prints_Cyt_B5	p.E470Q	ENST00000350997.7	37	c.1408	CCDS8011.2	11	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421054	0.25639	.	.	ENSG00000149485	ENST00000543488;ENST00000350997;ENST00000412725;ENST00000536991;ENST00000433932;ENST00000460649;ENST00000542506	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	4.88	-0.663	0.11410	Fatty acid desaturase, type 1 (1);	0.929306	0.08864	U	0.882560	T	0.10594	0.0259	N	0.17674	0.51	0.23282	N	0.997981	B	0.18013	0.025	B	0.24269	0.052	T	0.41858	-0.9485	10	0.25751	T	0.34	-40.2014	7.9471	0.29993	0.0:0.4863:0.3699:0.1437	.	413	O60427	FADS1_HUMAN	Q	345;470;329;161;329;115;329	ENSP00000322229:E470Q;ENSP00000439097:E161Q;ENSP00000405087:E329Q;ENSP00000445253:E115Q;ENSP00000441403:E329Q	ENSP00000322229:E470Q	E	-	1	0	FADS1	61326895	0.000000	0.05858	0.581000	0.28614	0.999000	0.98932	-0.266000	0.08631	-0.310000	0.08766	0.655000	0.94253	GAG	FADS1	-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase		0.552	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS1	HGNC	protein_coding	OTTHUMT00000347648.2	C	NM_013402		61570319	-1	no_errors	ENST00000350997	ensembl	human	known	70_37	missense	SNP	0.720	G
FAIM3	9214	genome.wustl.edu	37	1	207086294	207086294	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:207086294G>A	ENST00000367091.3	-	3	610	c.467C>T	c.(466-468)tCt>tTt	p.S156F	FAIM3_ENST00000442471.2_Missense_Mutation_p.S44F|FAIM3_ENST00000420007.2_Missense_Mutation_p.S156F|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	156					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GAATTTGGAAGAACTGGCATA	0.483											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													234.0	227.0	229.0					1																	207086294		2203	4300	6503	SO:0001583	missense	9214			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.467C>T	1.37:g.207086294G>A	ENSP00000356058:p.Ser156Phe	2164	A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub	p.S156F	ENST00000367091.3	37	c.467	CCDS1473.1	1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315365	0.60524	.	.	ENSG00000162894	ENST00000367091;ENST00000442471;ENST00000420007	T;T	0.27720	1.72;1.65	3.31	3.31	0.37934	.	0.669254	0.13157	N	0.409407	T	0.43100	0.1232	L	0.53249	1.67	0.09310	N	1	D;D;D	0.64830	0.987;0.994;0.991	P;P;P	0.57468	0.775;0.821;0.687	T	0.15896	-1.0421	10	0.72032	D	0.01	-1.1323	10.4117	0.44296	0.0:0.0:1.0:0.0	.	65;44;156	B7Z497;B7Z6Z0;O60667	.;.;FAIM3_HUMAN	F	156;44;156	ENSP00000356058:S156F;ENSP00000403356:S156F	ENSP00000356058:S156F	S	-	2	0	FAIM3	205152917	0.014000	0.17966	0.063000	0.19743	0.392000	0.30506	1.299000	0.33424	2.135000	0.66039	0.650000	0.86243	TCT	FAIM3	-	NULL		0.483	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM3	HGNC	protein_coding	OTTHUMT00000088677.1	G	NM_005449		207086294	-1	no_errors	ENST00000367091	ensembl	human	known	70_37	missense	SNP	0.085	A
FAM111B	374393	genome.wustl.edu	37	11	58891745	58891745	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:58891745G>A	ENST00000343597.3	+	4	366	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	FAM111B_ENST00000529618.1_Missense_Mutation_p.E29K|FAM111B_ENST00000411426.1_Missense_Mutation_p.E29K	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	59							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GCTTAAAAGTGAAGTCAACAA	0.368																																																	0													123.0	113.0	116.0					11																	58891745		2201	4295	6496	SO:0001583	missense	374393			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.175G>A	11.37:g.58891745G>A	ENSP00000341565:p.Glu59Lys		B4E2G2|Q6P661	Missense_Mutation	SNP	superfamily_Pept_cys/ser_Trypsin-like	p.E59K	ENST00000343597.3	37	c.175	CCDS7972.1	11	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662763	0.47572	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000534403;ENST00000343597	T;T;T	0.44482	0.96;0.96;0.92	3.31	1.39	0.22231	.	.	.	.	.	T	0.30759	0.0775	L	0.57536	1.79	0.09310	N	1	B	0.33266	0.404	B	0.24848	0.056	T	0.14924	-1.0455	9	0.21540	T	0.41	.	5.5614	0.17146	0.2662:0.0:0.7338:0.0	.	59	Q6SJ93	F111B_HUMAN	K	29;29;29;59	ENSP00000393855:E29K;ENSP00000432875:E29K;ENSP00000341565:E59K	ENSP00000341565:E59K	E	+	1	0	FAM111B	58648321	0.088000	0.21588	0.004000	0.12327	0.077000	0.17291	1.951000	0.40333	0.241000	0.21283	-0.150000	0.13652	GAA	FAM111B	-	NULL		0.368	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	HGNC	protein_coding	OTTHUMT00000393974.1	G	NM_198947		58891745	+1	no_errors	ENST00000343597	ensembl	human	known	70_37	missense	SNP	0.002	A
AMER1	139285	genome.wustl.edu	37	X	63412870	63412870	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:63412870C>T	ENST00000330258.3	-	2	569	c.297G>A	c.(295-297)ctG>ctA	p.L99L	AMER1_ENST00000403336.1_Silent_p.L99L|AMER1_ENST00000374869.3_Silent_p.L99L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	99					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.L99L(1)									CTGCTTCACTCAGGCCATCGT	0.542																																																	68	Whole gene deletion(67)|Substitution - coding silent(1)	kidney(65)|ovary(2)|large_intestine(1)											114.0	83.0	94.0					X																	63412870		2203	4300	6503	SO:0001819	synonymous_variant	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.297G>A	X.37:g.63412870C>T			A2IB86|Q8N885	Silent	SNP	pfam_Uncharacterised_FAM123	p.L99	ENST00000330258.3	37	c.297	CCDS14377.2	X																																																																																			FAM123B	-	pfam_Uncharacterised_FAM123		0.542	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	C	NM_152424		63412870	-1	no_errors	ENST00000330258	ensembl	human	known	70_37	silent	SNP	0.907	T
FAM151A	338094	genome.wustl.edu	37	1	55078239	55078239	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:55078239C>G	ENST00000302250.2	-	5	880	c.720G>C	c.(718-720)caG>caC	p.Q240H	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.Q240H	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	240						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGGTGACCCTCTGGGGCACTC	0.602																																																	0													106.0	95.0	99.0					1																	55078239		2203	4300	6503	SO:0001583	missense	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.720G>C	1.37:g.55078239C>G	ENSP00000306888:p.Gln240His		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	pfam_DUF2181	p.Q240H	ENST00000302250.2	37	c.720	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759204	0.49468	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.14266	2.52;2.52	4.34	3.42	0.39159	.	0.000000	0.64402	D	0.000004	T	0.35998	0.0951	M	0.83312	2.635	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.12372	-1.0550	10	0.62326	D	0.03	-24.5671	8.3929	0.32540	0.0:0.8147:0.0:0.1853	.	240	Q8WW52	F151A_HUMAN	H	240	ENSP00000306888:Q240H;ENSP00000360353:Q240H	ENSP00000294370:Q240H	Q	-	3	2	FAM151A	54850827	1.000000	0.71417	0.968000	0.41197	0.527000	0.34593	1.090000	0.30902	1.176000	0.42840	0.462000	0.41574	CAG	FAM151A	-	pfam_DUF2181		0.602	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	C	NM_176782		55078239	-1	no_errors	ENST00000302250	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM151B	167555	genome.wustl.edu	37	5	79809527	79809527	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:79809527C>G	ENST00000282226.4	+	3	411	c.256C>G	c.(256-258)Cta>Gta	p.L86V	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	86										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TGATAATACTCTACAGGAGTG	0.408																																																	0													99.0	91.0	94.0					5																	79809527		2203	4300	6503	SO:0001583	missense	167555				CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.256C>G	5.37:g.79809527C>G	ENSP00000282226:p.Leu86Val		A2RRE4	Missense_Mutation	SNP	pfam_DUF2181	p.L86V	ENST00000282226.4	37	c.256	CCDS4051.1	5	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308821	0.60305	.	.	ENSG00000152380	ENST00000282226	T	0.23552	1.9	6.04	0.487	0.16842	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	M	0.80028	2.48	0.48632	D	0.999683	D	0.89917	1.0	D	0.91635	0.999	T	0.34104	-0.9842	10	0.48119	T	0.1	-14.8375	9.9781	0.41797	0.0:0.5534:0.0:0.4466	.	86	Q6UXP7	F151B_HUMAN	V	86	ENSP00000282226:L86V	ENSP00000282226:L86V	L	+	1	2	FAM151B	79845283	0.393000	0.25237	0.059000	0.19551	0.820000	0.46376	0.952000	0.29149	-0.210000	0.10140	0.563000	0.77884	CTA	FAM151B	-	pfam_DUF2181		0.408	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151B	HGNC	protein_coding	OTTHUMT00000254072.1	C	NM_205548		79809527	+1	no_errors	ENST00000282226	ensembl	human	known	70_37	missense	SNP	0.808	G
FAM160A2	84067	genome.wustl.edu	37	11	6239851	6239851	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:6239851C>G	ENST00000449352.2	-	8	1677	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q	FAM160A2_ENST00000524416.1_Missense_Mutation_p.E472Q|FAM160A2_ENST00000265978.4_Missense_Mutation_p.E472Q			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	472					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGCATGCTCTGGACGAGGT	0.607																																																	0													121.0	106.0	111.0					11																	6239851		2201	4296	6497	SO:0001583	missense	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1414G>C	11.37:g.6239851C>G	ENSP00000416918:p.Glu472Gln		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.E472Q	ENST00000449352.2	37	c.1414	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750059	0.69533	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.16743	2.96;2.89;2.32	5.39	5.39	0.77823	.	0.096661	0.64402	D	0.000001	T	0.37348	0.1000	M	0.61703	1.905	0.45439	D	0.998412	D;D;D	0.71674	0.997;0.967;0.998	P;P;D	0.65684	0.854;0.622;0.937	T	0.01496	-1.1340	10	0.20519	T	0.43	-19.5313	18.3197	0.90234	0.0:1.0:0.0:0.0	.	472;472;472	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	Q	472;397;472;472	ENSP00000416918:E472Q;ENSP00000265978:E472Q;ENSP00000431773:E472Q	ENSP00000265978:E472Q	E	-	1	0	FAM160A2	6196427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.690000	0.68241	2.795000	0.96236	0.655000	0.94253	GAG	FAM160A2	-	NULL		0.607	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	C	NM_032127		6239851	-1	no_errors	ENST00000265978	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM178B	51252	genome.wustl.edu	37	2	97637691	97637691	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:97637691C>G	ENST00000417561.3	-	7	954	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	FAM178B_ENST00000490605.2_Missense_Mutation_p.E171Q|FAM178B_ENST00000327896.3_Missense_Mutation_p.E139Q			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	319										large_intestine(1)|ovary(1)	2						AACAGCTTCTCTGGCAAGGCC	0.647																																																	0													18.0	27.0	24.0					2																	97637691		691	1591	2282	SO:0001583	missense	51252			AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.955G>C	2.37:g.97637691C>G	ENSP00000413245:p.Glu319Gln		A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	NULL	p.E319Q	ENST00000417561.3	37	c.955		2	.	.	.	.	.	.	.	.	.	.	C	9.781	1.175389	0.21704	.	.	ENSG00000168754	ENST00000417561;ENST00000327896;ENST00000490605	T;T;T	0.60171	0.21;0.32;0.27	4.0	-1.33	0.09172	.	.	.	.	.	T	0.36908	0.0984	L	0.27053	0.805	0.09310	N	1	.	.	.	.	.	.	T	0.27872	-1.0061	7	0.35671	T	0.21	-0.7627	0.5708	0.00695	0.1752:0.2965:0.1722:0.3561	.	.	.	.	Q	319;139;171	ENSP00000413245:E319Q;ENSP00000333553:E139Q;ENSP00000429896:E171Q	ENSP00000333553:E139Q	E	-	1	0	FAM178B	97001418	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.234000	0.17930	-0.263000	0.09378	-0.157000	0.13467	GAG	FAM178B	-	NULL		0.647	FAM178B-202	KNOWN	basic	protein_coding	FAM178B	HGNC	protein_coding		C	NM_016490		97637691	-1	no_errors	ENST00000417561	ensembl	human	known	70_37	missense	SNP	0.000	G
FAM180A	389558	genome.wustl.edu	37	7	135418901	135418901	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:135418901G>C	ENST00000338588.3	-	3	609	c.344C>G	c.(343-345)cCt>cGt	p.P115R	FAM180A_ENST00000415751.1_Missense_Mutation_p.P115R|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	115						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GAGGATGCCAGGGTGGCTGGA	0.602																																																	0													137.0	119.0	125.0					7																	135418901		2203	4300	6503	SO:0001583	missense	389558			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.344C>G	7.37:g.135418901G>C	ENSP00000342336:p.Pro115Arg		B2RP85	Missense_Mutation	SNP	NULL	p.P115R	ENST00000338588.3	37	c.344	CCDS5841.1	7	.	.	.	.	.	.	.	.	.	.	G	1.205	-0.631410	0.03584	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.26518	1.73;1.73	5.65	3.53	0.40419	.	0.533387	0.21436	N	0.074561	T	0.14743	0.0356	L	0.31664	0.95	0.09310	N	1	B	0.30973	0.302	B	0.33042	0.157	T	0.21793	-1.0235	10	0.08837	T	0.75	-3.906	5.6642	0.17687	0.1839:0.0:0.6545:0.1616	.	115	Q6UWF9	F180A_HUMAN	R	115	ENSP00000342336:P115R;ENSP00000395467:P115R	ENSP00000342336:P115R	P	-	2	0	FAM180A	135069441	0.966000	0.33281	0.069000	0.20011	0.547000	0.35210	2.077000	0.41557	1.409000	0.46915	0.561000	0.74099	CCT	FAM180A	-	NULL		0.602	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM180A	HGNC	protein_coding	OTTHUMT00000340554.2	G	NM_205855		135418901	-1	no_errors	ENST00000338588	ensembl	human	known	70_37	missense	SNP	0.000	C
FAM184A	79632	genome.wustl.edu	37	6	119327698	119327698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:119327698G>A	ENST00000338891.7	-	7	2172	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	FAM184A_ENST00000521531.1_Nonsense_Mutation_p.Q577*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.Q457*|FAM184A_ENST00000522284.1_Nonsense_Mutation_p.Q457*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.Q457*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	577						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGGGAGTCCTGAAGACTAGCA	0.403																																																	0													119.0	113.0	115.0					6																	119327698		1867	4097	5964	SO:0001587	stop_gained	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1729C>T	6.37:g.119327698G>A	ENSP00000342604:p.Gln577*		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q577*	ENST00000338891.7	37	c.1729	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.600205	0.98381	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	.	.	.	5.55	5.55	0.83447	.	0.120329	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7765	14.3536	0.66722	0.0:0.0:0.8519:0.1481	.	.	.	.	X	577;457;457;577;457	.	ENSP00000342604:Q577X	Q	-	1	0	FAM184A	119369397	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.617000	0.67716	2.611000	0.88343	0.655000	0.94253	CAG	FAM184A	-	superfamily_Prefoldin		0.403	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	G	NM_024581		119327698	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FAM186A	121006	genome.wustl.edu	37	12	50757009	50757009	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:50757009C>G	ENST00000327337.5	-	2	330	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	FAM186A_ENST00000543111.1_Missense_Mutation_p.E111Q	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	111																	GCCATTTTCTCAAGAAAATTG	0.388																																					NSCLC(138;1796 1887 12511 19463 37884)												0													207.0	177.0	186.0					12																	50757009		692	1591	2283	SO:0001583	missense	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.331G>C	12.37:g.50757009C>G	ENSP00000329995:p.Glu111Gln			Missense_Mutation	SNP	NULL	p.E111Q	ENST00000327337.5	37	c.331	CCDS44878.1	12	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587295	0.46110	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.19250	2.16;2.16	4.12	4.12	0.48240	.	.	.	.	.	T	0.32346	0.0826	L	0.39147	1.195	0.30270	N	0.792321	D	0.71674	0.998	D	0.66351	0.943	T	0.11299	-1.0593	9	0.87932	D	0	.	8.022	0.30415	0.0:0.8897:0.0:0.1103	.	111	A6NE01	F186A_HUMAN	Q	111	ENSP00000441337:E111Q;ENSP00000329995:E111Q	ENSP00000329995:E111Q	E	-	1	0	FAM186A	49043276	0.876000	0.30132	0.114000	0.21550	0.015000	0.08874	2.317000	0.43770	2.323000	0.78572	0.549000	0.68633	GAG	FAM186A	-	NULL		0.388	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	C	XM_001718353		50757009	-1	no_errors	ENST00000327337	ensembl	human	known	70_37	missense	SNP	0.118	G
CCSER1	401145	genome.wustl.edu	37	4	91701592	91701592	+	Intron	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:91701592G>C	ENST00000509176.1	+	8	2298				CCSER1_ENST00000432775.2_Splice_Site|CCSER1_ENST00000504150.1_Splice_Site|CCSER1_ENST00000333691.8_Intron	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1																		TGTTTTTACAGACCACATACC	0.338																																																	0													51.0	48.0	49.0					4																	91701592		1819	4076	5895	SO:0001627	intron_variant	401145				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2011-35321G>C	4.37:g.91701592G>C			Q4W5M0|Q86V57	Splice_Site	SNP	-	e7-1	ENST00000509176.1	37	c.2011-1	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	G	3.546	-0.092690	0.07053	.	.	ENSG00000184305	ENST00000432775	.	.	.	2.52	0.734	0.18294	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5236	0.11971	0.3281:0.0:0.6719:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM190A	91920615	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.199000	0.17237	0.158000	0.19367	0.585000	0.79938	.	FAM190A	-	-		0.338	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190A	HGNC	protein_coding	OTTHUMT00000363109.3	G	NM_001145065		91701592	+1	no_errors	ENST00000432775	ensembl	human	known	70_37	splice_site	SNP	0.000	C
ERICH6	131831	genome.wustl.edu	37	3	150404129	150404129	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:150404129G>C	ENST00000295910.6	-	4	618	c.566C>G	c.(565-567)tCt>tGt	p.S189C	FAM194A_ENST00000491361.1_Missense_Mutation_p.S43C	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTCTCTTTAGAGGCTTTCTT	0.373																																																	0													133.0	128.0	130.0					3																	150404129		2203	4300	6503	SO:0001583	missense	131831																														ENST00000295910.6:c.566C>G	3.37:g.150404129G>C	ENSP00000295910:p.Ser189Cys			Missense_Mutation	SNP	NULL	p.S189C	ENST00000295910.6	37	c.566	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	G	7.360	0.624636	0.14193	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811;ENST00000474463	T;T;T	0.53423	2.57;2.4;0.62	3.23	0.0945	0.14481	.	3.213040	0.00887	N	0.002183	T	0.39682	0.1087	L	0.34521	1.04	0.09310	N	1	P	0.39624	0.681	B	0.41202	0.35	T	0.24404	-1.0161	10	0.56958	D	0.05	6.4136	3.4211	0.07393	0.1372:0.0:0.4156:0.4471	.	189	Q7L0X2	F194A_HUMAN	C	189;43;147;163	ENSP00000295910:S189C;ENSP00000419366:S43C;ENSP00000419304:S163C	ENSP00000295910:S189C	S	-	2	0	FAM194A	151886819	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.387000	0.20718	0.006000	0.14734	0.436000	0.28706	TCT	FAM194A	-	NULL		0.373	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	G			150404129	-1	no_errors	ENST00000295910	ensembl	human	known	70_37	missense	SNP	0.000	C
GGT1	2678	genome.wustl.edu	37	22	24984193	24984193	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:24984193C>G	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Missense_Mutation_p.K137N	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AGCTCTGGGTCTTCCTCTGGC	0.602																																																	0													74.0	84.0	81.0					22																	24984193		2098	4224	6322	SO:0001627	intron_variant	388886			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+4417C>G	22.37:g.24984193C>G			Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	NULL	p.K137N	ENST00000248923.4	37	c.411	CCDS42992.1	22	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244636	0.39697	.	.	ENSG00000178026	ENST00000318753	T	0.56275	0.47	3.68	0.371	0.16168	.	0.067787	0.56097	U	0.000029	T	0.56572	0.1994	M	0.71036	2.16	0.25012	N	0.991396	D	0.57257	0.979	P	0.52957	0.714	T	0.51888	-0.8648	10	0.72032	D	0.01	.	7.221	0.25988	0.0:0.6022:0.0:0.3978	.	137	Q2VPJ9	LRC6X_HUMAN	N	137	ENSP00000320520:K137N	ENSP00000320520:K137N	K	-	3	2	C22orf36	23314193	0.992000	0.36948	0.005000	0.12908	0.552000	0.35366	0.832000	0.27490	0.168000	0.19655	0.462000	0.41574	AAG	FAM211B	-	NULL		0.602	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM211B	HGNC	protein_coding	OTTHUMT00000319110.1	C	NM_013430		24984193	-1	no_errors	ENST00000318753	ensembl	human	known	70_37	missense	SNP	0.214	G
FAM217B	63939	genome.wustl.edu	37	20	58520067	58520067	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:58520067G>A	ENST00000358293.3	+	5	1484	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	FAM217B_ENST00000360816.3_Missense_Mutation_p.E357K	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	357																	GGGAAAGGCAGAGAGCTGTGG	0.413																																																	0													62.0	64.0	64.0					20																	58520067		2203	4300	6503	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1069G>A	20.37:g.58520067G>A	ENSP00000351040:p.Glu357Lys		B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.E357K	ENST00000358293.3	37	c.1069	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377042	0.61735	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.31510	1.49;1.49	5.35	2.89	0.33648	.	0.641674	0.14283	N	0.329408	T	0.18173	0.0436	N	0.14661	0.345	0.09310	N	1	B	0.21452	0.056	B	0.18871	0.023	T	0.18935	-1.0321	10	0.56958	D	0.05	-12.5287	8.8424	0.35151	0.8294:0.0:0.1706:0.0	.	357	Q9NTX9	CT177_HUMAN	K	357	ENSP00000351040:E357K;ENSP00000354056:E357K	ENSP00000351040:E357K	E	+	1	0	C20orf177	57953462	0.000000	0.05858	0.000000	0.03702	0.562000	0.35680	0.806000	0.27126	0.262000	0.21774	-0.218000	0.12543	GAG	FAM217B	-	NULL		0.413	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	G	NM_022106		58520067	+1	no_errors	ENST00000358293	ensembl	human	known	70_37	missense	SNP	0.002	A
FAM222B	55731	genome.wustl.edu	37	17	27086112	27086112	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:27086112C>G	ENST00000341217.5	-	3	1080	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Missense_Mutation_p.E289Q|FAM222B_ENST00000452648.3_Missense_Mutation_p.E289Q	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	289																	ATCTGGCCCTCACACACTGAG	0.597																																																	0													44.0	50.0	48.0					17																	27086112		2171	4273	6444	SO:0001583	missense	55731			AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.865G>C	17.37:g.27086112C>G	ENSP00000343115:p.Glu289Gln		Q9H6F3|Q9NVJ4|Q9NXN6	Missense_Mutation	SNP	NULL	p.E289Q	ENST00000341217.5	37	c.865	CCDS45637.1	17	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660761	0.29515	.	.	ENSG00000173065	ENST00000341217;ENST00000452648	T;T	0.35236	1.32;1.32	4.28	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	L	0.28556	0.865	0.58432	D	0.999996	P	0.46395	0.877	B	0.41646	0.362	T	0.02411	-1.1163	10	0.15499	T	0.54	-8.3822	11.5924	0.50953	0.0:0.9123:0.0:0.0877	.	289	Q8WU58	CQ063_HUMAN	Q	289	ENSP00000343115:E289Q;ENSP00000413645:E289Q	ENSP00000343115:E289Q	E	-	1	0	C17orf63	24110239	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.311000	0.78958	1.157000	0.42530	-0.140000	0.14226	GAG	FAM222B	-	NULL		0.597	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM222B	HGNC	protein_coding	OTTHUMT00000446703.1	C	NM_018182		27086112	-1	no_errors	ENST00000341217	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM86C2P	645332	genome.wustl.edu	37	11	67570507	67570507	+	IGR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:67570507G>C								FAM86C2P (5367 upstream) : RP11-119D9.1 (83459 downstream)																							CTCAGAATCTGATGAGTCTCT	0.478																																																	0																																										SO:0001628	intergenic_variant	645332																															11.37:g.67570507G>C				RNA	SNP	-	NULL		37	NULL		11																																																																																			FAM86C2P	-	-	0	0.478					FAM86C2P	HGNC			G			67570507	-1	no_errors	ENST00000525180	ensembl	human	known	70_37	rna	SNP	0.007	C
FAM86EP	348926	genome.wustl.edu	37	4	3944218	3944218	+	RNA	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:3944218G>A	ENST00000313946.8	-	0	2113									family with sequence similarity 86, member E, pseudogene																		GCTGGGTGCAGACTGTGCTCC	0.562																																																	0																																												348926					4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3944218G>A				RNA	SNP	-	NULL	ENST00000313946.8	37	NULL		4																																																																																			FAM86EP	-	-		0.562	FAM86EP-002	KNOWN	basic	processed_transcript	FAM86EP	HGNC	pseudogene	OTTHUMT00000357822.1	G			3944218	-1	no_errors	ENST00000313946	ensembl	human	known	70_37	rna	SNP	0.995	A
FAM91A1	157769	genome.wustl.edu	37	8	124824814	124824814	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:124824814C>T	ENST00000334705.7	+	24	2633	c.2387C>T	c.(2386-2388)tCa>tTa	p.S796L		NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	796										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AGTTTGCTTTCACAGTCATCG	0.388																																																	0													128.0	114.0	118.0					8																	124824814		1834	4079	5913	SO:0001583	missense	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.2387C>T	8.37:g.124824814C>T	ENSP00000335082:p.Ser796Leu		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.S796L	ENST00000334705.7	37	c.2387	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325518	0.24080	.	.	ENSG00000176853	ENST00000334705	T	0.30714	1.52	5.89	5.89	0.94794	.	0.211314	0.49916	D	0.000140	T	0.13713	0.0332	N	0.02225	-0.63	0.52099	D	0.999946	B	0.02656	0.0	B	0.08055	0.003	T	0.20371	-1.0277	10	0.21540	T	0.41	.	13.8763	0.63655	0.0:0.9219:0.0:0.0781	.	796	Q658Y4	F91A1_HUMAN	L	796	ENSP00000335082:S796L	ENSP00000335082:S796L	S	+	2	0	FAM91A1	124893995	1.000000	0.71417	0.999000	0.59377	0.782000	0.44232	4.680000	0.61656	2.793000	0.96121	0.655000	0.94253	TCA	FAM91A1	-	NULL		0.388	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	C	NM_144963		124824814	+1	no_errors	ENST00000334705	ensembl	human	known	70_37	missense	SNP	1.000	T
FASN	2194	genome.wustl.edu	37	17	80041246	80041246	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:80041246G>C	ENST00000306749.2	-	32	5615	c.5397C>G	c.(5395-5397)ttC>ttG	p.F1799L	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1799	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TCTCGTTGAAGAACGCATCCA	0.637																																					Colon(59;314 1043 11189 28578 32273)												0													70.0	69.0	70.0					17																	80041246		2202	4298	6500	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5397C>G	17.37:g.80041246G>C	ENSP00000304592:p.Phe1799Leu		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.F1799L	ENST00000306749.2	37	c.5397	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.838672	0.00573	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.28666	1.6	4.1	2.02	0.26589	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.363437	0.28527	N	0.015038	T	0.03608	0.0103	N	0.00043	-2.47	0.22305	N	0.999219	B	0.02656	0.0	B	0.01281	0.0	T	0.39165	-0.9627	10	0.02654	T	1	-21.1277	2.9559	0.05876	0.1675:0.1417:0.5451:0.1457	.	1799	P49327	FAS_HUMAN	L	1799;764	ENSP00000304592:F1799L	ENSP00000304592:F1799L	F	-	3	2	FASN	77634535	0.999000	0.42202	0.007000	0.13788	0.004000	0.04260	0.535000	0.23114	0.334000	0.23590	0.561000	0.74099	TTC	FASN	-	pfam_ADH_C,smart_PKS_ER		0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	G	NM_004104		80041246	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	missense	SNP	0.992	C
FAT2	2196	genome.wustl.edu	37	5	150946710	150946710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:150946710G>A	ENST00000261800.5	-	1	1795	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	595	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q595*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTAGGTTCTGAAGCTCATCC	0.413																																																	1	Substitution - Nonsense(1)	lung(1)											101.0	102.0	102.0					5																	150946710		2203	4300	6503	SO:0001587	stop_gained	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1783C>T	5.37:g.150946710G>A	ENSP00000261800:p.Gln595*		O75091|Q9NSR7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Q595*	ENST00000261800.5	37	c.1783	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.515761	0.98332	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.75	5.75	0.90469	.	0.207411	0.34110	N	0.004248	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.9392	0.97153	0.0:0.0:1.0:0.0	.	.	.	.	X	595	.	ENSP00000261800:Q595X	Q	-	1	0	FAT2	150926903	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.550000	0.60733	2.713000	0.92767	0.655000	0.94253	CAG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150946710	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FAT2	2196	genome.wustl.edu	37	5	150946976	150946976	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:150946976G>A	ENST00000261800.5	-	1	1529	c.1517C>T	c.(1516-1518)tCt>tTt	p.S506F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	506	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCAATAGAAAATGGCAA	0.483																																																	0													66.0	70.0	68.0					5																	150946976		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1517C>T	5.37:g.150946976G>A	ENSP00000261800:p.Ser506Phe		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S506F	ENST00000261800.5	37	c.1517	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	7.771	0.707467	0.15239	.	.	ENSG00000086570	ENST00000261800	T	0.54279	0.58	5.72	3.83	0.44106	Cadherin (4);Cadherin-like (1);	0.568970	0.17141	N	0.185443	T	0.57066	0.2028	M	0.63843	1.955	0.09310	N	1	D	0.54397	0.966	P	0.60541	0.876	T	0.48479	-0.9032	10	0.10111	T	0.7	.	4.7388	0.13003	0.0987:0.146:0.6053:0.15	.	506	Q9NYQ8	FAT2_HUMAN	F	506	ENSP00000261800:S506F	ENSP00000261800:S506F	S	-	2	0	FAT2	150927169	0.627000	0.27129	0.084000	0.20598	0.035000	0.12851	2.444000	0.44890	1.365000	0.46057	0.655000	0.94253	TCT	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150946976	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.004	A
FAT3	120114	genome.wustl.edu	37	11	92087928	92087928	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:92087928G>A	ENST00000298047.6	+	1	2667	c.2650G>A	c.(2650-2652)Gga>Aga	p.G884R	FAT3_ENST00000409404.2_Missense_Mutation_p.G884R|FAT3_ENST00000525166.1_Missense_Mutation_p.G734R|FAT3_ENST00000541502.1_Missense_Mutation_p.G884R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	884	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGCTCAACTGGAATCGTTTA	0.448										TCGA Ovarian(4;0.039)																																							0													106.0	101.0	103.0					11																	92087928		1932	4132	6064	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2650G>A	11.37:g.92087928G>A	ENSP00000298047:p.Gly884Arg		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G884R	ENST00000298047.6	37	c.2650		11	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764413	0.69878	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.59	5.59	0.84812	.	.	.	.	.	D	0.97794	0.9276	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99445	1.0939	9	0.87932	D	0	.	18.5873	0.91194	0.0:0.0:1.0:0.0	.	884	Q8TDW7-3	.	R	884;884;884;734	ENSP00000298047:G884R;ENSP00000387040:G884R;ENSP00000443786:G884R;ENSP00000432586:G734R	ENSP00000298047:G884R	G	+	1	0	FAT3	91727576	1.000000	0.71417	0.976000	0.42696	0.978000	0.69477	9.787000	0.99055	2.640000	0.89533	0.467000	0.42956	GGA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		G	NM_001008781		92087928	+1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	A
FAT3	120114	genome.wustl.edu	37	11	92532507	92532507	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:92532507G>T	ENST00000298047.6	+	9	6345	c.6328G>T	c.(6328-6330)Gac>Tac	p.D2110Y	FAT3_ENST00000409404.2_Missense_Mutation_p.D2110Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D1960Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2110	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAGCCATTGACAAAGATAA	0.433										TCGA Ovarian(4;0.039)																																							0													48.0	48.0	48.0					11																	92532507		1904	4125	6029	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6328G>T	11.37:g.92532507G>T	ENSP00000298047:p.Asp2110Tyr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D2110Y	ENST00000298047.6	37	c.6328		11	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663200	0.67700	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.75260	-0.92;-0.92;-0.92	5.9	5.9	0.94986	.	.	.	.	.	D	0.92718	0.7685	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94960	0.8107	9	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	2110	Q8TDW7-3	.	Y	2110;2110;1960	ENSP00000298047:D2110Y;ENSP00000387040:D2110Y;ENSP00000432586:D1960Y	ENSP00000298047:D2110Y	D	+	1	0	FAT3	92172155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.806000	0.96561	0.655000	0.94253	GAC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.433	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		G	NM_001008781		92532507	+1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	T
FAT4	79633	genome.wustl.edu	37	4	126411501	126411501	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:126411501C>T	ENST00000394329.3	+	17	13537	c.13524C>T	c.(13522-13524)atC>atT	p.I4508I	FAT4_ENST00000335110.5_Silent_p.I2749I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4508					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						TGCCTGCCATCGTGGGCAGCT	0.577																																																	0													68.0	68.0	68.0					4																	126411501		2203	4300	6503	SO:0001819	synonymous_variant	79633			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.13524C>T	4.37:g.126411501C>T			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I4508	ENST00000394329.3	37	c.13524	CCDS3732.3	4																																																																																			FAT4	-	NULL		0.577	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126411501	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.990	T
FBXL4	26235	genome.wustl.edu	37	6	99347235	99347235	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:99347235G>A	ENST00000369244.2	-	7	1654	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	FBXL4_ENST00000229971.1_Missense_Mutation_p.S409F	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	409					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATCACAGGAGGAGAGATTTAA	0.403																																																	0													157.0	141.0	146.0					6																	99347235		2203	4300	6503	SO:0001583	missense	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1226C>T	6.37:g.99347235G>A	ENSP00000358247:p.Ser409Phe		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.S409F	ENST00000369244.2	37	c.1226	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134527	0.77662	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.22743	1.94;1.94	5.3	5.3	0.74995	.	0.058042	0.64402	D	0.000001	T	0.26340	0.0643	M	0.85945	2.785	0.58432	D	0.999999	B;D	0.56521	0.252;0.976	B;P	0.47744	0.071;0.556	T	0.18713	-1.0328	10	0.87932	D	0	.	12.3228	0.54993	0.0776:0.0:0.9224:0.0	.	409;409	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	F	409	ENSP00000358247:S409F;ENSP00000229971:S409F	ENSP00000229971:S409F	S	-	2	0	FBXL4	99453956	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.690000	0.84178	2.480000	0.83734	0.563000	0.77884	TCC	FBXL4	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.403	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	G			99347235	-1	no_errors	ENST00000229971	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXO24	26261	genome.wustl.edu	37	7	100192016	100192016	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100192016G>T	ENST00000241071.6	+	6	1126	c.804G>T	c.(802-804)aaG>aaT	p.K268N	FBXO24_ENST00000360609.2_Missense_Mutation_p.K254N|FBXO24_ENST00000468962.1_Missense_Mutation_p.K256N|FBXO24_ENST00000427939.2_Missense_Mutation_p.K306N|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.K254N	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	268					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGGAAGGAAAGATCTACTCTT	0.537																																																	0													111.0	105.0	107.0					7																	100192016		2203	4300	6503	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.804G>T	7.37:g.100192016G>T	ENSP00000241071:p.Lys268Asn		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.K306N	ENST00000241071.6	37	c.918	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440091	0.63067	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.81330	-1.48;0.35;0.35;-1.48;-1.48	4.73	4.73	0.59995	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000003	T	0.77082	0.4078	N	0.08118	0	0.40610	D	0.981661	D;D;D;P	0.76494	0.999;0.999;0.999;0.763	D;D;D;P	0.80764	0.994;0.994;0.994;0.461	T	0.79577	-0.1746	10	0.66056	D	0.02	-17.5345	9.0883	0.36594	0.0987:0.0:0.9013:0.0	.	256;306;268;254	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	N	268;254;254;256;306	ENSP00000241071:K268N;ENSP00000353821:K254N;ENSP00000419602:K254N;ENSP00000420239:K256N;ENSP00000416558:K306N	ENSP00000241071:K268N	K	+	3	2	FBXO24	100029952	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.471000	0.35365	2.646000	0.89796	0.478000	0.44815	AAG	FBXO24	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.537	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	G			100192016	+1	no_errors	ENST00000427939	ensembl	human	known	70_37	missense	SNP	1.000	T
FCHSD2	9873	genome.wustl.edu	37	11	72554398	72554398	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:72554398C>T	ENST00000409418.4	-	16	1911				ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409314.1_Intron|FCHSD2_ENST00000458644.2_Intron|FCHSD2_ENST00000409263.1_Intron|FCHSD2_ENST00000311172.7_Intron|FCHSD2_ENST00000409853.1_Intron	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2											endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TGTGACAAAACAAGTTTACAC	0.413																																																	0													115.0	102.0	106.0					11																	72554398		2200	4293	6493	SO:0001627	intron_variant	9873			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1528-25G>A	11.37:g.72554398C>T			B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	RNA	SNP	-	NULL	ENST00000409418.4	37	NULL	CCDS8218.2	11																																																																																			FCHSD2	-	-		0.413	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	C	NM_014824		72554398	-1	no_errors	ENST00000474099	ensembl	human	putative	70_37	rna	SNP	0.003	T
FCRL1	115350	genome.wustl.edu	37	1	157773648	157773648	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:157773648C>T	ENST00000368176.3	-	3	373	c.306G>A	c.(304-306)caG>caA	p.Q102Q	FCRL1_ENST00000358292.3_Silent_p.Q102Q|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.Q102Q	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	102	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCACATTTATCTGGGATCTCC	0.527																																					GBM(54;482 1003 11223 30131 35730)												0													110.0	92.0	99.0					1																	157773648		2203	4300	6503	SO:0001819	synonymous_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.306G>A	1.37:g.157773648C>T			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q102	ENST00000368176.3	37	c.306	CCDS1170.1	1																																																																																			FCRL1	-	smart_Ig_sub,pfscan_Ig-like		0.527	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	C	NM_052938		157773648	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	silent	SNP	0.000	T
FDXACB1	91893	genome.wustl.edu	37	11	111749417	111749418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:111749417_111749418insC	ENST00000260257.4	-	2	238_239	c.191_192insG	c.(190-192)ggtfs	p.G64fs	ALG9_ENST00000524880.1_Frame_Shift_Ins_p.G64fs|FDXACB1_ENST00000542429.1_Intron|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000529270.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|C11orf1_ENST00000528125.1_5'Flank|C11orf1_ENST00000530214.1_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	64					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TGCAGTCCACACCGAAACGTAC	0.455											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	91893				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.192dupG	11.37:g.111749419_111749419dupC	ENSP00000260257:p.Gly64fs	1437	A0PJW7|B4DUU2	Frame_Shift_Ins	INS	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.V65fs	ENST00000260257.4	37	c.192_191	CCDS44729.1	11																																																																																			FDXACB1	-	pfam_DUF2431		0.455	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1	-	NM_138378		111749418	-1	no_errors	ENST00000260257	ensembl	human	known	70_37	frame_shift_ins	INS	0.942:0.953	C
FERMT3	83706	genome.wustl.edu	37	11	63986825	63986825	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:63986825C>T	ENST00000279227.5	+	7	984	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	FERMT3_ENST00000345728.5_Silent_p.L297L	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	297	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GTTTGCCGCCCTGCAGGTACC	0.667																																																	0													29.0	28.0	28.0					11																	63986825		2199	4294	6493	SO:0001819	synonymous_variant	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.889C>T	11.37:g.63986825C>T			Q8IUA1|Q8N207|Q9BT48	Silent	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L297	ENST00000279227.5	37	c.889	CCDS8060.1	11																																																																																			FERMT3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain		0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1	C	NM_031471		63986825	+1	no_errors	ENST00000279227	ensembl	human	known	70_37	silent	SNP	1.000	T
FGF3	2248	genome.wustl.edu	37	11	69631089	69631089	+	Splice_Site	SNP	G	G	A	rs143593259	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:69631089G>A	ENST00000334134.2	-	2	413	c.323C>T	c.(322-324)tCg>tTg	p.S108L		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	108					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TGGACTCACCGAAGCATAGAG	0.602													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16772	0.0		0.0	False		,,,				2504	0.0																0								G	LEU/SER	1,4399	2.1+/-5.4	0,1,2199	148.0	121.0	130.0		323	4.8	1.0	11	dbSNP_134	130	0,8588		0,0,4294	no	missense-near-splice	FGF3	NM_005247.2	145	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	108/240	69631089	1,12987	2200	4294	6494	SO:0001630	splice_region_variant	2248				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.324+1C>T	11.37:g.69631089G>A			Q0VG69	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.S108L	ENST00000334134.2	37	c.323	CCDS8195.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.387734	0.95988	2.27E-4	0.0	ENSG00000186895	ENST00000334134	D	0.83419	-1.72	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.90410	0.6998	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90409	0.4408	9	.	.	.	.	17.9426	0.89030	0.0:0.0:1.0:0.0	.	108	P11487	FGF3_HUMAN	L	108	ENSP00000334122:S108L	.	S	-	2	0	FGF3	69340026	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	9.263000	0.95617	2.231000	0.72958	0.555000	0.69702	TCG	FGF3	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF		0.602	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	HGNC	protein_coding	OTTHUMT00000396835.1	G	NM_005247	Missense_Mutation	69631089	-1	no_errors	ENST00000334134	ensembl	human	known	70_37	missense	SNP	1.000	A
FDXACB1	91893	genome.wustl.edu	37	11	111749420	111749420	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:111749420G>A	ENST00000260257.4	-	2	236	c.189C>T	c.(187-189)ttC>ttT	p.F63F	ALG9_ENST00000524880.1_Silent_p.F63F|FDXACB1_ENST00000542429.1_Intron|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000529270.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|C11orf1_ENST00000528125.1_5'Flank|C11orf1_ENST00000530214.1_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	63					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						AGTCCACACCGAAACGTACAT	0.458											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35.0	34.0	35.0					11																	111749420		1922	4123	6045	SO:0001819	synonymous_variant	91893				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.189C>T	11.37:g.111749420G>A		1437	A0PJW7|B4DUU2	Silent	SNP	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.F63	ENST00000260257.4	37	c.189	CCDS44729.1	11																																																																																			FDXACB1	-	pfam_DUF2431		0.458	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1	G	NM_138378		111749420	-1	no_errors	ENST00000260257	ensembl	human	known	70_37	silent	SNP	0.940	A
FLAD1	80308	genome.wustl.edu	37	1	154961004	154961004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:154961004G>T	ENST00000292180.3	+	2	1118	c.796G>T	c.(796-798)Gag>Tag	p.E266*	FLAD1_ENST00000368433.1_Nonsense_Mutation_p.E266*|FLAD1_ENST00000315144.10_Nonsense_Mutation_p.E169*|FLAD1_ENST00000405236.2_Nonsense_Mutation_p.E167*|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368431.3_Nonsense_Mutation_p.E167*|FLAD1_ENST00000368432.1_Nonsense_Mutation_p.E169*|FLAD1_ENST00000295530.2_5'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	266					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCGGGTGCTGGAGGGGATGAA	0.552																																																	0													38.0	37.0	38.0					1																	154961004		2203	4300	6503	SO:0001587	stop_gained	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.796G>T	1.37:g.154961004G>T	ENSP00000292180:p.Glu266*		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Nonsense_Mutation	SNP	pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd	p.E266*	ENST00000292180.3	37	c.796	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.558280	0.96514	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	.	.	.	6.04	4.16	0.48862	.	0.384541	0.29438	N	0.012153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-17.7876	7.7937	0.29135	0.1368:0.0:0.7331:0.1301	.	.	.	.	X	266;169;169;167;266;167	.	ENSP00000292180:E266X	E	+	1	0	FLAD1	153227628	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	4.355000	0.59424	1.573000	0.49748	-0.258000	0.10820	GAG	FLAD1	-	pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd		0.552	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	G	NM_025207		154961004	+1	no_errors	ENST00000292180	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FLG2	388698	genome.wustl.edu	37	1	152328793	152328793	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:152328793G>C	ENST00000388718.5	-	3	1541	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	490	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S490F(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGACTGACC	0.527																																																	1	Substitution - Missense(1)	urinary_tract(1)											223.0	222.0	223.0					1																	152328793		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1469C>G	1.37:g.152328793G>C	ENSP00000373370:p.Ser490Cys		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S490C	ENST00000388718.5	37	c.1469	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353148	0.61293	.	.	ENSG00000143520	ENST00000388718	T	0.23552	1.9	4.47	4.47	0.54385	.	.	.	.	.	T	0.31358	0.0794	L	0.56769	1.78	0.27237	N	0.959246	D	0.89917	1.0	D	0.70716	0.97	T	0.06391	-1.0829	9	0.59425	D	0.04	.	9.8348	0.40963	0.0:0.0:0.7954:0.2045	.	490	Q5D862	FILA2_HUMAN	C	490	ENSP00000373370:S490C	ENSP00000373370:S490C	S	-	2	0	FLG2	150595417	0.055000	0.20627	0.924000	0.36721	0.741000	0.42261	2.668000	0.46816	2.324000	0.78689	0.655000	0.94253	TCT	FLG2	-	NULL		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	G	NM_001014342		152328793	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.893	C
FLAD1	80308	genome.wustl.edu	37	1	154961012	154961012	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:154961012G>A	ENST00000292180.3	+	2	1126	c.804G>A	c.(802-804)atG>atA	p.M268I	FLAD1_ENST00000368433.1_Missense_Mutation_p.M268I|FLAD1_ENST00000315144.10_Missense_Mutation_p.M171I|FLAD1_ENST00000405236.2_Missense_Mutation_p.M169I|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368431.3_Missense_Mutation_p.M169I|FLAD1_ENST00000368432.1_Missense_Mutation_p.M171I|FLAD1_ENST00000295530.2_Start_Codon_SNP_p.M1I	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	268					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.M268I(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGAGGGGATGAAGGGACTAT	0.567																																																	1	Substitution - Missense(1)	lung(1)											41.0	39.0	40.0					1																	154961012		2203	4300	6503	SO:0001583	missense	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.804G>A	1.37:g.154961012G>A	ENSP00000292180:p.Met268Ile		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd	p.M268I	ENST00000292180.3	37	c.804	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429260	0.25726	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236;ENST00000295530	T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.51	0.306	0.15806	Molybdopterin binding (3);	0.079225	0.52532	D	0.000073	T	0.13243	0.0321	N	0.00811	-1.165	0.09310	N	1	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.01281	0.0;0.0;0.0	T	0.34378	-0.9831	10	0.38643	T	0.18	-8.8862	3.253	0.06822	0.2592:0.1065:0.5251:0.1092	.	1;268;169	Q5T191;Q8NFF5;Q8NFF5-4	.;FAD1_HUMAN;.	I	268;171;171;169;268;169;1	ENSP00000357418:M268I;ENSP00000317296:M171I;ENSP00000357417:M171I;ENSP00000357416:M169I;ENSP00000292180:M268I;ENSP00000384323:M169I	ENSP00000292180:M268I	M	+	3	0	FLAD1	153227636	0.000000	0.05858	0.788000	0.31933	0.788000	0.44548	-0.831000	0.04405	0.140000	0.18849	-0.258000	0.10820	ATG	FLAD1	-	pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd		0.567	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	G	NM_025207		154961012	+1	no_errors	ENST00000292180	ensembl	human	known	70_37	missense	SNP	0.069	A
ZNF473	25888	genome.wustl.edu	37	19	50553883	50553883	+	IGR	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:50553883C>A	ENST00000595661.1	+	0	4828				CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.1_ENST00000527209.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CTATTCCTCTCGGTGGCCTAA	0.612																																																	0																																										SO:0001628	intergenic_variant	400710			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7			19.37:g.50553883C>A			A8K8T7|Q9ULS9|Q9Y4Q7	RNA	SNP	-	NULL	ENST00000595661.1	37	NULL	CCDS33077.1	19																																																																																			CTD-2126E3.1	-	-		0.612	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FLJ26850	Clone_based_vega_gene	protein_coding	OTTHUMT00000464833.1	C	XM_046390		50553883	+1	no_errors	ENST00000527209	ensembl	human	known	70_37	rna	SNP	0.000	A
FLT1	2321	genome.wustl.edu	37	13	28919631	28919631	+	Missense_Mutation	SNP	G	G	A	rs200840674		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:28919631G>A	ENST00000282397.4	-	16	2557	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	769					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAGAGAGTCGCAGCCACACA	0.393																																																	0								G	VAL/ALA	0,4406		0,0,2203	62.0	61.0	61.0		2306	5.5	0.8	13		61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FLT1	NM_002019.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	769/1339	28919631	1,13005	2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2306C>T	13.37:g.28919631G>A	ENSP00000282397:p.Ala769Val		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.A769V	ENST00000282397.4	37	c.2306	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.404122	0.96051	0.0	1.16E-4	ENSG00000102755	ENST00000282397	T	0.77098	-1.07	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86135	0.1577	10	0.31617	T	0.26	.	19.4283	0.94754	0.0:0.0:1.0:0.0	.	769	P17948	VGFR1_HUMAN	V	769	ENSP00000282397:A769V	ENSP00000282397:A769V	A	-	2	0	FLT1	27817631	1.000000	0.71417	0.845000	0.33349	0.912000	0.54170	9.832000	0.99423	2.590000	0.87494	0.555000	0.69702	GCG	FLT1	-	NULL		0.393	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	G			28919631	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	missense	SNP	1.000	A
FNBP1	23048	genome.wustl.edu	37	9	132687391	132687391	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:132687391G>C	ENST00000446176.2	-	9	1021	c.835C>G	c.(835-837)Cct>Gct	p.P279A	FNBP1_ENST00000420781.1_Missense_Mutation_p.P279A|FNBP1_ENST00000355681.3_Missense_Mutation_p.P279A|FNBP1_ENST00000478129.1_5'UTR	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	279	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		ATGTCTCCAGGAGGCTCAAAC	0.403			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													134.0	125.0	128.0					9																	132687391		1870	4107	5977	SO:0001583	missense	23048			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.835C>G	9.37:g.132687391G>C	ENSP00000413625:p.Pro279Ala		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.P279A	ENST00000446176.2	37	c.835	CCDS48040.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630608	0.87660	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.58940	0.3;0.3;0.3	5.34	5.34	0.76211	.	0.100949	0.64402	D	0.000002	T	0.76622	0.4013	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;0.993;0.996;0.998;0.996;1.0	D;D;P;P;D;P;D	0.77004	0.982;0.989;0.828;0.683;0.989;0.888;0.985	T	0.78051	-0.2355	10	0.59425	D	0.04	-20.7765	18.4048	0.90532	0.0:0.0:1.0:0.0	.	279;279;279;279;240;279;279	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.;.;.;.;.;.;FNBP1_HUMAN	A	279	ENSP00000413625:P279A;ENSP00000407548:P279A;ENSP00000347907:P279A	ENSP00000347907:P279A	P	-	1	0	FNBP1	131727212	1.000000	0.71417	0.834000	0.33040	0.986000	0.74619	9.278000	0.95766	2.655000	0.90218	0.462000	0.41574	CCT	FNBP1	-	NULL		0.403	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	G			132687391	-1	no_errors	ENST00000372416	ensembl	human	known	70_37	missense	SNP	1.000	C
FOXO4	4303	genome.wustl.edu	37	X	70320631	70320631	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:70320631G>A	ENST00000374259.3	+	2	883	c.551G>A	c.(550-552)gGa>gAa	p.G184E	FOXO4_ENST00000341558.3_Missense_Mutation_p.G129E	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	184					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AACCCTGAGGGAGGCAAGAGC	0.612											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													30.0	31.0	31.0					X																	70320631		2039	4180	6219	SO:0001583	missense	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.551G>A	X.37:g.70320631G>A	ENSP00000363377:p.Gly184Glu	1121	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G184E	ENST00000374259.3	37	c.551	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	g	16.94	3.260076	0.59321	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95238	-3.65;-3.65	4.97	4.1	0.47936	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.193174	0.44902	N	0.000411	D	0.95149	0.8428	L	0.44542	1.39	0.80722	D	1	B;B;D	0.61080	0.332;0.249;0.989	B;B;D	0.71870	0.346;0.135;0.975	D	0.94452	0.7668	10	0.51188	T	0.08	-37.5392	11.7958	0.52100	0.0868:0.0:0.9132:0.0	.	184;129;184	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	E	184;129	ENSP00000363377:G184E;ENSP00000342209:G129E	ENSP00000342209:G129E	G	+	2	0	FOXO4	70237356	1.000000	0.71417	0.997000	0.53966	0.671000	0.39405	9.175000	0.94831	1.090000	0.41315	-0.221000	0.12465	GGA	FOXO4	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.612	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	HGNC	protein_coding	OTTHUMT00000057115.1	G	NM_005938		70320631	+1	no_errors	ENST00000374259	ensembl	human	known	70_37	missense	SNP	0.999	A
FOXRED2	80020	genome.wustl.edu	37	22	36892146	36892146	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36892146C>T	ENST00000397224.4	-	7	1585	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	FOXRED2_ENST00000397223.4_Missense_Mutation_p.E498K|FOXRED2_ENST00000366463.3_Missense_Mutation_p.E50K|FOXRED2_ENST00000216187.6_Missense_Mutation_p.E498K	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	498					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCCATATTCCATGTTGATG	0.537																																																	0													104.0	105.0	105.0					22																	36892146		2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1492G>A	22.37:g.36892146C>T	ENSP00000380401:p.Glu498Lys		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.E498K	ENST00000397224.4	37	c.1492	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487444	0.84854	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.54675	2.08;2.08;0.56;2.08	5.3	5.3	0.74995	.	0.050943	0.85682	D	0.000000	T	0.62344	0.2420	M	0.80847	2.515	0.54753	D	0.999989	P	0.51791	0.948	P	0.44772	0.46	T	0.70004	-0.4991	10	0.56958	D	0.05	-30.9368	19.0171	0.92899	0.0:1.0:0.0:0.0	.	498	Q8IWF2	FXRD2_HUMAN	K	498;498;50;498	ENSP00000380401:E498K;ENSP00000216187:E498K;ENSP00000382543:E50K;ENSP00000380400:E498K	ENSP00000216187:E498K	E	-	1	0	FOXRED2	35222092	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.562000	0.67346	2.491000	0.84063	0.650000	0.86243	GAA	FOXRED2	-	NULL		0.537	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	C	NM_024955		36892146	-1	no_errors	ENST00000216187	ensembl	human	known	70_37	missense	SNP	1.000	T
FPR2	2358	genome.wustl.edu	37	19	52272802	52272802	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:52272802C>T	ENST00000598776.1	+	2	1663	c.891C>T	c.(889-891)ctC>ctT	p.L297L	FPR2_ENST00000598953.1_Silent_p.L297L|FPR2_ENST00000340023.6_Silent_p.L297L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	297					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACAGCTGCCTCAACCCCATGC	0.542																																																	0													121.0	112.0	115.0					19																	52272802		2203	4300	6503	SO:0001819	synonymous_variant	2358			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.891C>T	19.37:g.52272802C>T			A8K3E2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt	p.L297	ENST00000598776.1	37	c.891	CCDS12840.1	19																																																																																			FPR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	C	NM_001005738		52272802	+1	no_errors	ENST00000340023	ensembl	human	known	70_37	silent	SNP	1.000	T
FRAS1	80144	genome.wustl.edu	37	4	79420976	79420976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:79420976C>T	ENST00000264895.6	+	61	9657	c.9217C>T	c.(9217-9219)Cag>Tag	p.Q3073*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3069	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGAGGGGATCAGAACAGGAC	0.562																																																	0													128.0	127.0	127.0					4																	79420976		1987	4176	6163	SO:0001587	stop_gained	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9217C>T	4.37:g.79420976C>T	ENSP00000264895:p.Gln3073*		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.Q3073*	ENST00000264895.6	37	c.9217	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.132166|10.132166	0.99343|0.99343	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.223032|.	0.38837|.	N|.	0.001545|.	.|T	.|0.77025	.|0.4070	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74103	.|-0.3773	.|4	0.06365|.	T|.	0.9|.	.|.	20.2983|20.2983	0.98569|0.98569	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	3073|1301	.|.	ENSP00000264895:Q3073X|.	Q|S	+|+	1|2	0|0	FRAS1|FRAS1	79640000|79640000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	5.920000|5.920000	0.70017|0.70017	2.802000|2.802000	0.96397|0.96397	0.655000|0.655000	0.94253|0.94253	CAG|TCA	FRAS1	-	pfam_Calx_beta,smart_Calx_beta		0.562	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		C			79420976	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FREM2	341640	genome.wustl.edu	37	13	39357288	39357288	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:39357288G>C	ENST00000280481.7	+	5	5939	c.5723G>C	c.(5722-5724)gGa>gCa	p.G1908A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1908	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAGGAGCGGAGATGTGAGC	0.433																																																	0													196.0	180.0	185.0					13																	39357288		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5723G>C	13.37:g.39357288G>C	ENSP00000280481:p.Gly1908Ala		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.G1908A	ENST00000280481.7	37	c.5723	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039035	0.75617	.	.	ENSG00000150893	ENST00000280481	T	0.37752	1.18	5.84	5.84	0.93424	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75288	-0.3370	10	0.87932	D	0	.	20.1336	0.98010	0.0:0.0:1.0:0.0	.	1908	Q5SZK8	FREM2_HUMAN	A	1908	ENSP00000280481:G1908A	ENSP00000280481:G1908A	G	+	2	0	FREM2	38255288	1.000000	0.71417	0.901000	0.35422	0.187000	0.23431	9.860000	0.99555	2.751000	0.94390	0.514000	0.50259	GGA	FREM2	-	pfam_Calx_beta,smart_Calx_beta		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	G	NM_207361		39357288	+1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	1.000	C
FRMD4B	23150	genome.wustl.edu	37	3	69265484	69265484	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:69265484G>C	ENST00000398540.3	-	11	889	c.806C>G	c.(805-807)cCt>cGt	p.P269R	FRMD4B_ENST00000542259.1_Missense_Mutation_p.P215R	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	269	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		AAGCCACCAAGGAAGTCCTTG	0.388																																																	0													77.0	68.0	71.0					3																	69265484		1865	4114	5979	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.806C>G	3.37:g.69265484G>C	ENSP00000381549:p.Pro269Arg		Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.P269R	ENST00000398540.3	37	c.806	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887782	0.72410	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000493880	D;D;D	0.81821	-1.54;-1.54;-1.54	5.44	4.57	0.56435	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88206	0.6374	M	0.72894	2.215	0.58432	D	0.999997	D;P	0.76494	0.999;0.938	D;P	0.87578	0.998;0.864	D	0.88941	0.3380	10	0.66056	D	0.02	-13.1221	13.1318	0.59387	0.0786:0.0:0.9214:0.0	.	113;269	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	R	269;215;160	ENSP00000381549:P269R;ENSP00000437658:P215R;ENSP00000418962:P160R	ENSP00000381549:P269R	P	-	2	0	FRMD4B	69348174	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.002000	0.93572	1.290000	0.44636	0.573000	0.79308	CCT	FRMD4B	-	pfam_FERM_PH-like_C,pfscan_FERM_domain		0.388	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	G			69265484	-1	no_errors	ENST00000398540	ensembl	human	known	70_37	missense	SNP	1.000	C
FRMPD2	143162	genome.wustl.edu	37	10	49459636	49459636	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:49459636C>G	ENST00000374201.3	-	2	426	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E33Q|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E40Q	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	42	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGGAGCTGCTCAGCGGCCAGG	0.572																																																	0													79.0	69.0	73.0					10																	49459636		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.124G>C	10.37:g.49459636C>G	ENSP00000363317:p.Glu42Gln		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.E42Q	ENST00000374201.3	37	c.124	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444041	0.43429	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.28895	1.59;1.59;1.59	5.39	4.46	0.54185	KIND (2);	.	.	.	.	T	0.56337	0.1978	M	0.79926	2.475	0.22562	N	0.998984	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.74348	0.943;0.983;0.929	T	0.50491	-0.8822	9	0.66056	D	0.02	.	11.98	0.53115	0.0:0.8254:0.1746:0.0	.	40;42;33	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	Q	42;40;33	ENSP00000363317:E42Q;ENSP00000307079:E40Q;ENSP00000384339:E33Q	ENSP00000307079:E40Q	E	-	1	0	FRMPD2	49129642	0.037000	0.19845	0.574000	0.28523	0.202000	0.24057	0.600000	0.24104	1.245000	0.43885	0.563000	0.77884	GAG	FRMPD2	-	smart_KIND		0.572	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	C	NM_152428		49459636	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	missense	SNP	0.454	G
FRY	10129	genome.wustl.edu	37	13	32776588	32776588	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:32776588C>G	ENST00000380250.3	+	31	4438	c.3942C>G	c.(3940-3942)ctC>ctG	p.L1314L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1314						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCCACCCCTCTACAGCGTGT	0.498																																																	0													82.0	83.0	83.0					13																	32776588		1997	4166	6163	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3942C>G	13.37:g.32776588C>G			Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.L1314	ENST00000380250.3	37	c.3942	CCDS41875.1	13																																																																																			FRY	-	NULL		0.498	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	C	NM_023037		32776588	+1	no_errors	ENST00000380250	ensembl	human	known	70_37	silent	SNP	1.000	G
FRY	10129	genome.wustl.edu	37	13	32785125	32785125	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:32785125C>T	ENST00000380250.3	+	34	5041	c.4545C>T	c.(4543-4545)ccC>ccT	p.P1515P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1515						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACAACCCGCCCTTCTACCGCT	0.562																																																	0													65.0	69.0	68.0					13																	32785125		1957	4152	6109	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4545C>T	13.37:g.32785125C>T			Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.P1515	ENST00000380250.3	37	c.4545	CCDS41875.1	13																																																																																			FRY	-	NULL		0.562	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	C	NM_023037		32785125	+1	no_errors	ENST00000380250	ensembl	human	known	70_37	silent	SNP	0.942	T
FSCB	84075	genome.wustl.edu	37	14	44975541	44975541	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:44975541G>A	ENST00000340446.4	-	1	941	c.650C>T	c.(649-651)tCa>tTa	p.S217L	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	217						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGAGTAAATGAAGTTCTGCT	0.393																																																	0													115.0	117.0	117.0					14																	44975541		2203	4300	6503	SO:0001583	missense	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.650C>T	14.37:g.44975541G>A	ENSP00000344579:p.Ser217Leu		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.S217L	ENST00000340446.4	37	c.650	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	G	4.547	0.101649	0.08731	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.26660	1.72	4.24	1.09	0.20402	.	.	.	.	.	T	0.14485	0.0350	N	0.22421	0.69	0.09310	N	1	P	0.39157	0.662	B	0.38655	0.278	T	0.16958	-1.0385	9	0.24483	T	0.36	-0.8246	5.0808	0.14655	0.1965:0.0:0.6369:0.1666	.	217	Q5H9T9	FSCB_HUMAN	L	217	ENSP00000344579:S217L	ENSP00000344579:S217L	S	-	2	0	FSCB	44045291	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.105000	0.15333	0.515000	0.28320	0.655000	0.94253	TCA	FSCB	-	NULL		0.393	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	G	NM_032135		44975541	-1	no_errors	ENST00000340446	ensembl	human	known	70_37	missense	SNP	0.001	A
FUBP3	8939	genome.wustl.edu	37	9	133472045	133472045	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:133472045C>T	ENST00000319725.9	+	2	265					NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3						positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		caccatgccTCCTAGTACGTT	0.468																																																	0																																										SO:0001627	intron_variant	8939			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.190+1070C>T	9.37:g.133472045C>T			A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.P3S	ENST00000319725.9	37	c.7	CCDS43893.1	9	.	.	.	.	.	.	.	.	.	.	C	5.326	0.245480	0.10077	.	.	ENSG00000107164	ENST00000372376	.	.	.	0.807	-0.181	0.13291	.	.	.	.	.	T	0.25121	0.0610	.	.	.	0.09310	N	1	B	0.33345	0.409	B	0.35114	0.196	T	0.25710	-1.0124	7	0.66056	D	0.02	.	3.1833	0.06592	0.0:0.6671:0.0:0.3329	.	3	Q96I24-2	.	S	3	.	ENSP00000361451:P3S	P	+	1	0	FUBP3	132461866	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.249000	0.18216	-0.094000	0.12374	-0.384000	0.06662	CCT	FUBP3	-	NULL		0.468	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1	C			133472045	+1	no_errors	ENST00000372376	ensembl	human	known	70_37	missense	SNP	0.003	T
FZD7	8324	genome.wustl.edu	37	2	202901050	202901050	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:202901050C>G	ENST00000286201.1	+	1	1741	c.1680C>G	c.(1678-1680)ttC>ttG	p.F560L	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	560					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGCGCCGCTTCTACCACAGAC	0.607																																																	0													38.0	41.0	40.0					2																	202901050		2201	4296	6497	SO:0001583	missense	8324			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1680C>G	2.37:g.202901050C>G	ENSP00000286201:p.Phe560Leu		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F560L	ENST00000286201.1	37	c.1680	CCDS2351.1	2	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954669	0.53293	.	.	ENSG00000155760	ENST00000286201	T	0.81247	-1.47	5.83	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.85864	0.5796	M	0.66939	2.045	0.58432	D	0.999994	D	0.65815	0.995	D	0.70227	0.968	D	0.83512	0.0081	10	0.27082	T	0.32	.	10.8233	0.46617	0.0:0.7778:0.0:0.2222	.	560	O75084	FZD7_HUMAN	L	560	ENSP00000286201:F560L	ENSP00000286201:F560L	F	+	3	2	FZD7	202609295	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.316000	0.33620	1.473000	0.48159	0.655000	0.94253	TTC	FZD7	-	pfam_Frizzled		0.607	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD7	HGNC	protein_coding	OTTHUMT00000256314.1	C	NM_003507		202901050	+1	no_errors	ENST00000286201	ensembl	human	known	70_37	missense	SNP	1.000	G
GABBR2	9568	genome.wustl.edu	37	9	101061587	101061587	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:101061587C>G	ENST00000259455.2	-	17	2920	c.2461G>C	c.(2461-2463)Gaa>Caa	p.E821Q		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	821					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GTGGTCTTTTCTGGTGTGTCC	0.527																																																	0													447.0	371.0	397.0					9																	101061587		2203	4300	6503	SO:0001583	missense	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2461G>C	9.37:g.101061587C>G	ENSP00000259455:p.Glu821Gln		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3	p.E821Q	ENST00000259455.2	37	c.2461	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.260159	0.95368	.	.	ENSG00000136928	ENST00000259455	T	0.79141	-1.24	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.81513	0.4838	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.82721	-0.0317	10	0.54805	T	0.06	.	17.4853	0.87685	0.0:1.0:0.0:0.0	.	821	O75899	GABR2_HUMAN	Q	821	ENSP00000259455:E821Q	ENSP00000259455:E821Q	E	-	1	0	GABBR2	100101408	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.794000	0.85869	2.723000	0.93209	0.655000	0.94253	GAA	GABBR2	-	NULL		0.527	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	C			101061587	-1	no_errors	ENST00000259455	ensembl	human	known	70_37	missense	SNP	1.000	G
GALNT4	8693	genome.wustl.edu	37	12	89917392	89917392	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:89917392C>T	ENST00000529983.2	-	1	1191	c.935G>A	c.(934-936)gGa>gAa	p.G312E	POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.G309E|POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.G140E|POC1B-GALNT4_ENST00000547474.1_3'UTR	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	312	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AGCAAACAGTCCTCCAGCCAT	0.473																																																	0													132.0	131.0	131.0					12																	89917392		1968	4158	6126	SO:0001583	missense	8693			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.935G>A	12.37:g.89917392C>T	ENSP00000436604:p.Gly312Glu		B2R775|B4DMX6|O00208	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G312E	ENST00000529983.2	37	c.935	CCDS53817.1	12	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712589	0.89112	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;D;T	0.90844	0.04;-2.74;0.04	5.85	5.85	0.93711	Glycosyl transferase, family 2 (1);	.	.	.	.	D	0.97259	0.9104	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98068	1.0397	9	0.87932	D	0	.	19.1613	0.93533	0.0:1.0:0.0:0.0	.	309;312	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	E	309;140;312	ENSP00000447852:G309E;ENSP00000389686:G140E;ENSP00000436604:G312E	ENSP00000436604:G312E	G	-	2	0	GALNT4;RP11-1109F11.4	88441523	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	7.760000	0.85248	2.768000	0.95171	0.655000	0.94253	GGA	GALNT4	-	pfam_Glyco_trans_2		0.473	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT4	HGNC	protein_coding	OTTHUMT00000388973.2	C	NM_003774		89917392	-1	no_errors	ENST00000529983	ensembl	human	known	70_37	missense	SNP	1.000	T
GBP7	388646	genome.wustl.edu	37	1	89637576	89637576	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:89637576C>G	ENST00000294671.2	-	2	181	c.43G>C	c.(43-45)Gag>Cag	p.E15Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	15	GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTAGTGTTCTCAGTGAGGCAC	0.493																																																	0													138.0	135.0	136.0					1																	89637576		2203	4300	6503	SO:0001583	missense	388646			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.43G>C	1.37:g.89637576C>G	ENSP00000294671:p.Glu15Gln			Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.E15Q	ENST00000294671.2	37	c.43	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.505980	0.26949	.	.	ENSG00000213512	ENST00000294671	T	0.62498	0.02	3.81	-1.8	0.07907	.	0.200733	0.40144	N	0.001177	T	0.39886	0.1095	M	0.92459	3.31	0.09310	N	1	P	0.41848	0.763	B	0.35312	0.2	T	0.48502	-0.9030	10	0.56958	D	0.05	.	1.4368	0.02345	0.1473:0.4343:0.1439:0.2746	.	15	Q8N8V2	GBP7_HUMAN	Q	15	ENSP00000294671:E15Q	ENSP00000294671:E15Q	E	-	1	0	GBP7	89410164	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.121000	0.10643	-0.694000	0.05113	0.563000	0.77884	GAG	GBP7	-	NULL		0.493	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	C	NM_207398		89637576	-1	no_errors	ENST00000294671	ensembl	human	known	70_37	missense	SNP	0.001	G
GBP1P1	400759	genome.wustl.edu	37	1	89889986	89889986	+	RNA	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:89889986G>C	ENST00000513638.1	+	0	727					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		AAGAGCAAGAGAGGACCCTCG	0.473																																																	0																																												400759					1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89889986G>C				RNA	SNP	-	NULL	ENST00000513638.1	37	NULL		1																																																																																			GBP1P1	-	-		0.473	GBP1P1-002	KNOWN	basic	processed_transcript	GBP1P1	HGNC	pseudogene	OTTHUMT00000360073.1	G	NR_003133		89889986	+1	no_errors	ENST00000513638	ensembl	human	known	70_37	rna	SNP	0.049	C
GCC2	9648	genome.wustl.edu	37	2	109109215	109109215	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:109109215C>T	ENST00000309863.6	+	19	5130	c.4416C>T	c.(4414-4416)ctC>ctT	p.L1472L		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1472					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGCACAGCTCTTCCAGCTTA	0.403																																																	0													97.0	95.0	96.0					2																	109109215		2203	4300	6503	SO:0001819	synonymous_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4416C>T	2.37:g.109109215C>T			A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.L1472	ENST00000309863.6	37	c.4416	CCDS33268.1	2																																																																																			GCC2	-	NULL		0.403	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	C	NM_014635		109109215	+1	no_errors	ENST00000309863	ensembl	human	known	70_37	silent	SNP	1.000	T
GCH1	2643	genome.wustl.edu	37	14	55313836	55313836	+	Silent	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:55313836G>T	ENST00000491895.2	-	4	710	c.522C>A	c.(520-522)atC>atA	p.I174I	GCH1_ENST00000543643.2_Silent_p.I174I|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000395514.1_Silent_p.I174I|GCH1_ENST00000536224.2_Silent_p.I174I	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	174					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(2)|lung(7)|skin(2)	11						TTCTACTATAGATTTCTACAA	0.244																																					Pancreas(198;1245 2204 4807 21567 38372)												0													17.0	19.0	19.0					14																	55313836		2169	4277	6446	SO:0001819	synonymous_variant	2643			U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"""dopa-responsive dystonia"""	600225	"""dystonia 14"""	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.522C>A	14.37:g.55313836G>T			Q6FHY7|Q9Y4I8	Silent	SNP	pfam_GTP_CycHdrlase_I/CN_OxRdtase,tigrfam_GTP_CycHdrlase_I	p.I174	ENST00000491895.2	37	c.522	CCDS9720.1	14																																																																																			GCH1	-	pfam_GTP_CycHdrlase_I/CN_OxRdtase,tigrfam_GTP_CycHdrlase_I		0.244	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	GCH1	HGNC	protein_coding	OTTHUMT00000276895.3	G			55313836	-1	no_errors	ENST00000395514	ensembl	human	known	70_37	silent	SNP	1.000	T
GDF9	2661	genome.wustl.edu	37	5	132200008	132200008	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:132200008C>T	ENST00000378673.2	-	2	1084	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	UQCRQ_ENST00000378667.1_5'Flank|UQCRQ_ENST00000378665.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.R73Q|GDF9_ENST00000464378.1_Intron|UQCRQ_ENST00000378670.3_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	73					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGACCCACCTCGCCCAACAGA	0.498																																																	0													107.0	114.0	112.0					5																	132200008		2203	4300	6503	SO:0001583	missense	2661				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.218G>A	5.37:g.132200008C>T	ENSP00000367942:p.Arg73Gln		Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.R73Q	ENST00000378673.2	37	c.218	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	C	5.353	0.250425	0.10130	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.59224	0.28;0.28	5.72	-5.13	0.02884	.	0.866782	0.10567	N	0.659540	T	0.26011	0.0634	N	0.04820	-0.15	0.09310	N	1	B	0.16603	0.018	B	0.06405	0.002	T	0.27226	-1.0080	10	0.12430	T	0.62	.	7.2264	0.26018	0.0:0.3465:0.305:0.3485	.	73	O60383	GDF9_HUMAN	Q	73	ENSP00000367942:R73Q;ENSP00000296875:R73Q	ENSP00000296875:R73Q	R	-	2	0	GDF9	132227907	0.000000	0.05858	0.004000	0.12327	0.284000	0.27059	-0.761000	0.04751	-1.090000	0.03069	-0.844000	0.03045	CGA	GDF9	-	NULL		0.498	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	C	NM_005260		132200008	-1	no_errors	ENST00000296875	ensembl	human	known	70_37	missense	SNP	0.000	T
GFPT1	2673	genome.wustl.edu	37	2	69575310	69575310	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:69575310G>A	ENST00000357308.4	-	11	1180	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	GFPT1_ENST00000361060.5_Silent_p.I316I	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	334	Isomerase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CACCCTTCATGATCTGCTGGA	0.413																																																	0													167.0	155.0	159.0					2																	69575310		2203	4300	6503	SO:0001819	synonymous_variant	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1002C>T	2.37:g.69575310G>A			Q53QE6|Q9BXF8	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.I334	ENST00000357308.4	37	c.1002	CCDS58713.1	2																																																																																			GFPT1	-	tigrfam_GlmS_trans		0.413	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		G			69575310	-1	no_errors	ENST00000357308	ensembl	human	known	70_37	silent	SNP	1.000	A
GFPT2	9945	genome.wustl.edu	37	5	179743390	179743390	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:179743390C>G	ENST00000253778.8	-	13	1393	c.1224G>C	c.(1222-1224)agG>agC	p.R408S	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	408	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CAGGTGTGTTCCTGTCCAGAA	0.507																																																	0													89.0	90.0	90.0					5																	179743390		2075	4224	6299	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1224G>C	5.37:g.179743390C>G	ENSP00000253778:p.Arg408Ser		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.R408S	ENST00000253778.8	37	c.1224	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830663	0.71258	.	.	ENSG00000131459	ENST00000253778	T	0.63096	-0.02	5.89	2.81	0.32909	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72855	-0.4166	9	.	.	.	-33.0671	9.3235	0.37980	0.0:0.6393:0.0:0.3607	.	408	O94808	GFPT2_HUMAN	S	408	ENSP00000253778:R408S	.	R	-	3	2	GFPT2	179675996	0.983000	0.35010	1.000000	0.80357	0.992000	0.81027	0.148000	0.16224	0.845000	0.35118	-0.254000	0.11334	AGG	GFPT2	-	pfam_SIS,tigrfam_GlmS_trans		0.507	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	C	NM_005110		179743390	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	missense	SNP	1.000	G
GFRA3	2676	genome.wustl.edu	37	5	137600194	137600194	+	Silent	SNP	G	G	C	rs536166264		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:137600194G>C	ENST00000274721.3	-	2	381	c.135C>G	c.(133-135)ctC>ctG	p.L45L	GFRA3_ENST00000378362.3_Silent_p.L45L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	45					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCTGGCCTGGAGACAGCTGT	0.557																																																	0													71.0	66.0	68.0					5																	137600194		2203	4300	6503	SO:0001819	synonymous_variant	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.135C>G	5.37:g.137600194G>C			B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.L45	ENST00000274721.3	37	c.135	CCDS4201.1	5																																																																																			GFRA3	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt_A3		0.557	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	G	NM_001496		137600194	-1	no_errors	ENST00000274721	ensembl	human	known	70_37	silent	SNP	0.996	C
GFPT2	9945	genome.wustl.edu	37	5	179743416	179743416	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:179743416C>T	ENST00000253778.8	-	13	1367	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	400	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTAGCAAGTTCAACCATCACA	0.502																																																	0													97.0	95.0	95.0					5																	179743416		2056	4217	6273	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1198G>A	5.37:g.179743416C>T	ENSP00000253778:p.Glu400Lys		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.E400K	ENST00000253778.8	37	c.1198	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.826037	0.96996	.	.	ENSG00000131459	ENST00000253778	T	0.65732	-0.17	5.89	5.89	0.94794	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	D	0.85923	0.5810	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.88861	0.3326	9	.	.	.	-27.1074	20.2566	0.98424	0.0:1.0:0.0:0.0	.	400	O94808	GFPT2_HUMAN	K	400	ENSP00000253778:E400K	.	E	-	1	0	GFPT2	179676022	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.669000	0.83911	2.793000	0.96121	0.561000	0.74099	GAA	GFPT2	-	pfam_SIS,tigrfam_GlmS_trans		0.502	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	C	NM_005110		179743416	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	missense	SNP	1.000	T
GGCX	2677	genome.wustl.edu	37	2	85777799	85777799	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:85777799G>C	ENST00000233838.4	-	14	2043	c.1963C>G	c.(1963-1965)Ctg>Gtg	p.L655V	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Missense_Mutation_p.L598V	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	655					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GTCTGAACCAGAGGTGTTGGC	0.532																																																	0													117.0	126.0	123.0					2																	85777799		2203	4300	6503	SO:0001583	missense	2677				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1963C>G	2.37:g.85777799G>C	ENSP00000233838:p.Leu655Val		B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM	p.L655V	ENST00000233838.4	37	c.1963	CCDS1978.1	2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121160	0.37436	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	T;T	0.28454	1.61;1.61	5.48	3.68	0.42216	.	0.148380	0.46145	D	0.000302	T	0.22859	0.0552	N	0.16307	0.4	0.34647	D	0.721288	B;D;B	0.53312	0.059;0.959;0.431	B;P;B	0.47744	0.026;0.556;0.065	T	0.24835	-1.0149	10	0.31617	T	0.26	-11.4427	10.2591	0.43416	0.1621:0.0:0.8379:0.0	.	598;471;655	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	V	655;598	ENSP00000233838:L655V;ENSP00000408045:L598V	ENSP00000233838:L655V	L	-	1	2	GGCX	85631310	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.520000	0.35899	0.791000	0.33826	-0.150000	0.13652	CTG	GGCX	-	NULL		0.532	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	G	NM_000821		85777799	-1	no_errors	ENST00000233838	ensembl	human	known	70_37	missense	SNP	1.000	C
GIGYF1	64599	genome.wustl.edu	37	7	100284359	100284359	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100284359C>G	ENST00000275732.5	-	7	1816	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	203	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					tcctgttcctccCGTAGGGAG	0.697																																																	0													27.0	29.0	29.0					7																	100284359		2202	4298	6500	SO:0001583	missense	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.607G>C	7.37:g.100284359C>G	ENSP00000275732:p.Glu203Gln		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.E203Q	ENST00000275732.5	37	c.607	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	17.18	3.324101	0.60634	.	.	ENSG00000146830	ENST00000275732	D	0.84223	-1.82	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.87795	0.6267	L	0.55990	1.75	0.51767	D	0.999938	D	0.60575	0.988	P	0.57204	0.815	D	0.85445	0.1157	10	0.27082	T	0.32	-35.8036	15.7405	0.77891	0.0:1.0:0.0:0.0	.	203	O75420	PERQ1_HUMAN	Q	203	ENSP00000275732:E203Q	ENSP00000275732:E203Q	E	-	1	0	GIGYF1	100122295	0.998000	0.40836	0.973000	0.42090	0.139000	0.21198	4.082000	0.57635	2.571000	0.86741	0.563000	0.77884	GAG	GIGYF1	-	NULL		0.697	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	C	NM_022574		100284359	-1	no_errors	ENST00000275732	ensembl	human	known	70_37	missense	SNP	0.997	G
GINS2	51659	genome.wustl.edu	37	16	85711821	85711821	+	Missense_Mutation	SNP	G	G	T	rs145377561	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:85711821G>T	ENST00000253462.3	-	5	655	c.555C>A	c.(553-555)ttC>ttA	p.F185L		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	185					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						CCTTTCTCTAGAAGTCCTGAG	0.547																																																	0								G	LEU/PHE	0,4396		0,0,2198	86.0	85.0	85.0		555	-0.4	1.0	16	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	no	missense	GINS2	NM_016095.2	22	0,2,6496	TT,TG,GG		0.0233,0.0,0.0154	benign	185/186	85711821	2,12994	2198	4300	6498	SO:0001583	missense	51659			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.555C>A	16.37:g.85711821G>T	ENSP00000253462:p.Phe185Leu		D3DUM5|Q6IAG9	Missense_Mutation	SNP	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	p.F185L	ENST00000253462.3	37	c.555	CCDS10953.1	16	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528740	0.44969	0.0	2.33E-4	ENSG00000131153	ENST00000253462	.	.	.	5.18	-0.385	0.12470	.	0.115041	0.64402	N	0.000010	T	0.20047	0.0482	N	0.12182	0.205	0.29413	N	0.861078	B	0.02656	0.0	B	0.01281	0.0	T	0.08411	-1.0723	9	0.42905	T	0.14	.	6.7441	0.23453	0.2558:0.2217:0.5225:0.0	.	185	Q9Y248	PSF2_HUMAN	L	185	.	ENSP00000253462:F185L	F	-	3	2	GINS2	84269322	1.000000	0.71417	0.993000	0.49108	0.804000	0.45430	1.665000	0.37449	0.021000	0.15133	0.655000	0.94253	TTC	GINS2	-	NULL		0.547	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS2	HGNC	protein_coding	OTTHUMT00000269098.1	G	NM_016095		85711821	-1	no_errors	ENST00000253462	ensembl	human	known	70_37	missense	SNP	0.997	T
GJA9	81025	genome.wustl.edu	37	1	39340261	39340261	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:39340261G>C	ENST00000360786.3	-	1	1762	c.1510C>G	c.(1510-1512)Ctc>Gtc	p.L504V	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.L504V|GJA9_ENST00000454994.2_Intron|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	504					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTACCAATGAGATTGTTCGTT	0.463																																																	0													82.0	82.0	82.0					1																	39340261		2203	4300	6503	SO:0001583	missense	81025			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1510C>G	1.37:g.39340261G>C	ENSP00000354020:p.Leu504Val		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.L504V	ENST00000360786.3	37	c.1510	CCDS432.1	1	.	.	.	.	.	.	.	.	.	.	G	6.374	0.437146	0.12104	.	.	ENSG00000131233	ENST00000357771;ENST00000360786	D;D	0.97328	-4.34;-4.34	4.02	-4.42	0.03579	.	2.212140	0.02124	U	0.055889	D	0.89808	0.6822	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	D	0.83921	0.0301	10	0.21540	T	0.41	.	1.1985	0.01880	0.226:0.381:0.1714:0.2217	.	504	P57773	CXA9_HUMAN	V	504	ENSP00000350415:L504V;ENSP00000354020:L504V	ENSP00000350415:L504V	L	-	1	0	GJA9	39112848	0.191000	0.23288	0.000000	0.03702	0.155000	0.21991	0.472000	0.22116	-0.669000	0.05289	-0.251000	0.11542	CTC	GJA9	-	NULL		0.463	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	HGNC	protein_coding	OTTHUMT00000001205.1	G	NM_030772		39340261	-1	no_errors	ENST00000357771	ensembl	human	known	70_37	missense	SNP	0.203	C
GJA9	81025	genome.wustl.edu	37	1	39340415	39340415	+	Silent	SNP	G	G	C	rs550315317		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:39340415G>C	ENST00000360786.3	-	1	1608	c.1356C>G	c.(1354-1356)gtC>gtG	p.V452V	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Silent_p.V452V|GJA9_ENST00000454994.2_Intron|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	452					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GAAGGGTTCTGACTGTGCCCT	0.512																																																	0													128.0	125.0	126.0					1																	39340415		2203	4300	6503	SO:0001819	synonymous_variant	81025			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1356C>G	1.37:g.39340415G>C			B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.V452	ENST00000360786.3	37	c.1356	CCDS432.1	1																																																																																			GJA9	-	NULL		0.512	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	HGNC	protein_coding	OTTHUMT00000001205.1	G	NM_030772		39340415	-1	no_errors	ENST00000357771	ensembl	human	known	70_37	silent	SNP	0.001	C
GK5	256356	genome.wustl.edu	37	3	141884578	141884578	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:141884578C>G	ENST00000392993.2	-	16	1627	c.1476G>C	c.(1474-1476)ctG>ctC	p.L492L		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	492					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CACTTTGTCTCAGTTTCTTTA	0.358																																																	0													153.0	137.0	142.0					3																	141884578		2203	4300	6503	SO:0001819	synonymous_variant	256356			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.1476G>C	3.37:g.141884578C>G			B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Silent	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.L492	ENST00000392993.2	37	c.1476	CCDS33871.1	3																																																																																			GK5	-	NULL		0.358	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	C	NM_001039547		141884578	-1	no_errors	ENST00000392993	ensembl	human	known	70_37	silent	SNP	1.000	G
GLB1L	79411	genome.wustl.edu	37	2	220102371	220102371	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:220102371C>A	ENST00000295759.7	-	16	1865	c.1552G>T	c.(1552-1554)Gtg>Ttg	p.V518L	GLB1L_ENST00000392089.2_Missense_Mutation_p.V518L|GLB1L_ENST00000409640.1_Missense_Mutation_p.V428L|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.V428L			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	518					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCACTTCACAAGGTTATCA	0.453																																																	0													85.0	89.0	87.0					2																	220102371		2203	4300	6503	SO:0001583	missense	79411				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1552G>T	2.37:g.220102371C>A	ENSP00000295759:p.Val518Leu		Q96DR0	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.V518L	ENST00000295759.7	37	c.1552	CCDS2437.1	2	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352439	0.41700	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.09	2.03	0.26663	Galactose-binding domain-like (1);	0.210840	0.47093	D	0.000257	T	0.81884	0.4917	N	0.14661	0.345	0.45704	D	0.998616	B;B	0.24533	0.105;0.05	B;B	0.23574	0.047;0.018	T	0.71663	-0.4525	10	0.21014	T	0.42	-4.9821	9.2983	0.37829	0.0:0.6943:0.0:0.3057	.	428;518	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	L	518;428;518;428	ENSP00000295759:V518L;ENSP00000386354:V428L;ENSP00000375939:V518L;ENSP00000348628:V428L	ENSP00000295759:V518L	V	-	1	0	GLB1L	219810615	0.854000	0.29725	0.979000	0.43373	0.984000	0.73092	0.268000	0.18571	0.674000	0.31244	0.655000	0.94253	GTG	GLB1L	-	superfamily_Galactose-bd-like		0.453	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L	HGNC	protein_coding	OTTHUMT00000256822.2	C	NM_024506		220102371	-1	no_errors	ENST00000295759	ensembl	human	known	70_37	missense	SNP	0.961	A
GLI3	2737	genome.wustl.edu	37	7	42011988	42011988	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:42011988G>A	ENST00000395925.3	-	13	2135	c.2051C>T	c.(2050-2052)tCa>tTa	p.S684L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	684					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTCCCGCTTTGAGGTAGTGTT	0.562									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													143.0	147.0	146.0					7																	42011988		2203	4300	6503	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2051C>T	7.37:g.42011988G>A	ENSP00000379258:p.Ser684Leu		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S684L	ENST00000395925.3	37	c.2051	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383922	0.82792	.	.	ENSG00000106571	ENST00000395925	T	0.15017	2.46	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	M	0.72479	2.2	0.80722	D	1	B	0.29301	0.241	B	0.35607	0.206	T	0.01998	-1.1232	10	0.38643	T	0.18	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	684	P10071	GLI3_HUMAN	L	684	ENSP00000379258:S684L	ENSP00000379258:S684L	S	-	2	0	GLI3	41978513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.912000	0.87465	2.804000	0.96469	0.655000	0.94253	TCA	GLI3	-	NULL		0.562	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	G	NM_000168		42011988	-1	no_errors	ENST00000395925	ensembl	human	known	70_37	missense	SNP	1.000	A
GLIS3	169792	genome.wustl.edu	37	9	3829394	3829394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:3829394C>A	ENST00000324333.10	-	9	2300	c.2107G>T	c.(2107-2109)Gag>Tag	p.E703*	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Nonsense_Mutation_p.E858*	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	703					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGCAGTCCTCAAACGAAGGC	0.542																																																	0													112.0	94.0	100.0					9																	3829394		2203	4300	6503	SO:0001587	stop_gained	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2107G>T	9.37:g.3829394C>A	ENSP00000325494:p.Glu703*		B1AL19|Q1PHK5	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E858*	ENST00000324333.10	37	c.2572	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	c	46	12.333613	0.99658	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	.	.	.	5.93	5.93	0.95920	.	0.000000	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.9313	0.97120	0.0:1.0:0.0:0.0	.	.	.	.	X	703;858	.	ENSP00000325494:E703X	E	-	1	0	GLIS3	3819394	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.581000	0.67471	2.814000	0.96858	0.563000	0.77884	GAG	GLIS3	-	NULL		0.542	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	C	NM_152629		3829394	-1	no_errors	ENST00000381971	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GLUL	2752	genome.wustl.edu	37	1	182353749	182353749	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:182353749C>T	ENST00000331872.6	-	7	1453	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.E305K|GLUL_ENST00000311223.5_Missense_Mutation_p.E305K|GLUL_ENST00000417584.2_Missense_Mutation_p.E305K	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	305					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TTGGAGGTTTCATGGAATCCA	0.532																																																	0													114.0	103.0	107.0					1																	182353749		2203	4300	6503	SO:0001583	missense	2752			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.913G>A	1.37:g.182353749C>T	ENSP00000356537:p.Glu305Lys		Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.E305K	ENST00000331872.6	37	c.913	CCDS1344.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279187	0.80692	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.34	4.43	0.53597	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.093973	0.64402	D	0.000001	D	0.92499	0.7618	H	0.98370	4.215	0.80722	D	1	B	0.21905	0.062	B	0.28465	0.09	D	0.91231	0.5014	10	0.72032	D	0.01	-22.555	12.4747	0.55807	0.0:0.9173:0.0:0.0826	.	305	P15104	GLNA_HUMAN	K	305	ENSP00000356537:E305K;ENSP00000307900:E305K;ENSP00000398320:E305K;ENSP00000344958:E305K	ENSP00000307900:E305K	E	-	1	0	GLUL	180620372	1.000000	0.71417	0.947000	0.38551	0.983000	0.72400	5.574000	0.67424	1.232000	0.43678	0.563000	0.77884	GAA	GLUL	-	pfam_Gln_synth_cat_dom		0.532	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	HGNC	protein_coding	OTTHUMT00000091043.1	C	NM_002065		182353749	-1	no_errors	ENST00000311223	ensembl	human	known	70_37	missense	SNP	1.000	T
GNAT2	2780	genome.wustl.edu	37	1	110148947	110148947	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:110148947G>C	ENST00000351050.3	-	5	759	c.573C>G	c.(571-573)gtC>gtG	p.V191V		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	191					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCAAGTCTTTGACGGAAAACT	0.483																																																	0													144.0	131.0	135.0					1																	110148947		2203	4300	6503	SO:0001819	synonymous_variant	2780			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.573C>G	1.37:g.110148947G>C				Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.V191	ENST00000351050.3	37	c.573	CCDS803.1	1																																																																																			GNAT2	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I		0.483	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT2	HGNC	protein_coding	OTTHUMT00000032181.1	G	NM_005272		110148947	-1	no_errors	ENST00000351050	ensembl	human	known	70_37	silent	SNP	1.000	C
GLUL	2752	genome.wustl.edu	37	1	182359958	182359958	+	5'UTR	SNP	C	C	T	rs140356059|rs376704415	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:182359958C>T	ENST00000339526.4	-	0	969				GLUL_ENST00000491322.1_5'Flank|GLUL_ENST00000331872.6_Intron|GLUL_ENST00000311223.5_5'UTR|GLUL_ENST00000417584.2_Intron			P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TTGCTTTCTTCGTGGACTTGC	0.552																																																	0																																										SO:0001623	5_prime_UTR_variant	2752			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000339526.4:c.-340G>A	1.37:g.182359958C>T			Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	RNA	SNP	-	NULL	ENST00000339526.4	37	NULL	CCDS1344.1	1																																																																																			GLUL	-	-		0.552	GLUL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	HGNC	protein_coding	OTTHUMT00000091044.1	C	NM_002065		182359958	-1	no_errors	ENST00000480604	ensembl	human	known	70_37	rna	SNP	0.000	T
GNL1	2794	genome.wustl.edu	37	6	30522370	30522370	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30522370G>A	ENST00000376621.3	-	5	1552	c.582C>T	c.(580-582)atC>atT	p.I194I	PRR3_ENST00000376560.3_5'Flank|PRR3_ENST00000376557.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	194	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGATATCAGTGATAAGCAGGA	0.502																																																	0													108.0	111.0	110.0					6																	30522370		1511	2709	4220	SO:0001819	synonymous_variant	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.582C>T	6.37:g.30522370G>A			B0S838|Q96CT5	Silent	SNP	pfam_GTP_binding_domain	p.I194	ENST00000376621.3	37	c.582	CCDS4680.1	6																																																																																			GNL1	-	NULL		0.502	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	HGNC	protein_coding	OTTHUMT00000076241.2	G			30522370	-1	no_errors	ENST00000376621	ensembl	human	known	70_37	silent	SNP	1.000	A
TTC41P	253724	genome.wustl.edu	37	12	104255045	104255045	+	IGR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:104255045G>A								RP11-650K20.3 (16603 upstream) : RP11-642P15.1 (52759 downstream)																							TTCCAGCAACGAACCTGAAAA	0.333																																																	0																																										SO:0001628	intergenic_variant	253724																															12.37:g.104255045G>A				RNA	SNP	-	NULL		37	NULL		12																																																																																			RP11-642P15.1	-	-	0	0.333					GNN	Clone_based_vega_gene			G			104255045	-1	no_errors	ENST00000548527	ensembl	human	known	70_37	rna	SNP	0.000	A
GOLGB1	2804	genome.wustl.edu	37	3	121409879	121409879	+	Missense_Mutation	SNP	C	C	G	rs377678243		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:121409879C>G	ENST00000340645.5	-	14	8442	c.8317G>C	c.(8317-8319)Gaa>Caa	p.E2773Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2778Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2773					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGTCCCTGTTCTTTCAACTGT	0.408																																																	0													143.0	131.0	135.0					3																	121409879		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8317G>C	3.37:g.121409879C>G	ENSP00000341848:p.Glu2773Gln		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E2773Q	ENST00000340645.5	37	c.8317	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	3.974	-0.007825	0.07773	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.17854	2.25;2.25	5.3	5.3	0.74995	.	0.185899	0.37623	N	0.002002	T	0.36248	0.0960	M	0.65975	2.015	0.42123	D	0.991435	B;D;B	0.63880	0.0;0.993;0.0	B;P;B	0.58266	0.002;0.836;0.001	T	0.02829	-1.1105	10	0.49607	T	0.09	.	16.4994	0.84253	0.0:1.0:0.0:0.0	.	2778;2778;2773	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Q	2773;2778	ENSP00000341848:E2773Q;ENSP00000377275:E2778Q	ENSP00000341848:E2773Q	E	-	1	0	GOLGB1	122892569	1.000000	0.71417	0.953000	0.39169	0.113000	0.19764	2.458000	0.45014	2.756000	0.94617	0.655000	0.94253	GAA	GOLGB1	-	NULL		0.408	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121409879	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.999	G
GOLGB1	2804	genome.wustl.edu	37	3	121445852	121445852	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:121445852C>G	ENST00000340645.5	-	5	564	c.439G>C	c.(439-441)Gaa>Caa	p.E147Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E147Q|GOLGB1_ENST00000472829.1_5'Flank	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	147					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTATCTTTTCTATTTCCATC	0.373																																																	0													203.0	176.0	185.0					3																	121445852		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.439G>C	3.37:g.121445852C>G	ENSP00000341848:p.Glu147Gln		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E147Q	ENST00000340645.5	37	c.439	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.27|10.27	1.304827|1.304827	0.23736|0.23736	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25912|.	2.4;2.34;1.77|.	5.47|5.47	4.59|4.59	0.56863|0.56863	.|.	0.229512|.	0.30667|.	N|.	0.009128|.	T|.	0.51500|.	0.1678|.	L|L	0.56769|0.56769	1.78|1.78	0.26941|0.26941	N|N	0.966259|0.966259	P;D;P;D;P|.	0.60160|.	0.933;0.987;0.933;0.987;0.933|.	P;P;P;P;P|.	0.57468|.	0.623;0.821;0.623;0.821;0.623|.	T|.	0.44982|.	-0.9292|.	10|.	0.24483|.	T|.	0.36|.	.|.	10.512|10.512	0.44868|0.44868	0.0:0.91:0.0:0.09|0.0:0.91:0.0:0.09	.|.	108;147;147;147;147|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	Q|Y	147;147;147;34|92	ENSP00000341848:E147Q;ENSP00000377275:E147Q;ENSP00000418231:E147Q|.	ENSP00000341848:E147Q|.	E|X	-|-	1|3	0|2	GOLGB1|GOLGB1	122928542|122928542	0.884000|0.884000	0.30299|0.30299	0.790000|0.790000	0.31976|0.31976	0.067000|0.067000	0.16453|0.16453	2.175000|2.175000	0.42491|0.42491	1.442000|1.442000	0.47568|0.47568	0.650000|0.650000	0.86243|0.86243	GAA|TAG	GOLGB1	-	NULL		0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121445852	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.873	G
GPKOW	27238	genome.wustl.edu	37	X	48976168	48976168	+	Splice_Site	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:48976168C>A	ENST00000156109.5	-	4	535		c.e4-1			NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs							nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCTCTGGCACCTACAGGTTCA	0.612																																																	0													37.0	31.0	33.0					X																	48976168		2202	4300	6502	SO:0001630	splice_region_variant	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.457-1G>T	X.37:g.48976168C>A			Q59EK5|Q9BQA8	Splice_Site	SNP	-	e4-1	ENST00000156109.5	37	c.457-1	CCDS35251.1	X	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253169	0.22965	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.43632	D	0.996021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2941	0.49267	0.1828:0.8172:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPKOW	48863112	0.996000	0.38824	0.087000	0.20705	0.023000	0.10783	1.527000	0.35975	2.229000	0.72834	0.509000	0.49947	.	GPKOW	-	-		0.612	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	HGNC	protein_coding	OTTHUMT00000056535.2	C	NM_015698	Intron	48976168	-1	no_errors	ENST00000156109	ensembl	human	known	70_37	splice_site	SNP	0.130	A
GPR107	57720	genome.wustl.edu	37	9	132897326	132897326	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:132897326G>A	ENST00000372406.1	+	20	2236	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	GPR107_ENST00000372410.3_Missense_Mutation_p.E548K|GPR107_ENST00000347136.6_Missense_Mutation_p.E529K	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	577						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TGGGGTGATGGAAAGTATGAA	0.522																																																	0													111.0	96.0	101.0					9																	132897326		2203	4300	6503	SO:0001583	missense	57720			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1729G>A	9.37:g.132897326G>A	ENSP00000361483:p.Glu577Lys		A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	pfam_TM_rcpt_euk,pfam_Rhodopsin-like_GPCR_TM_domain	p.E577K	ENST00000372406.1	37	c.1729	CCDS48041.1	9	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129974	0.77549	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	T;T;T	0.26810	1.75;1.71;1.74	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.51770	0.1694	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.997;0.996;0.994	T	0.52094	-0.8621	10	0.52906	T	0.07	-28.9538	15.7863	0.78306	0.0:0.0:1.0:0.0	.	548;577;529	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	K	577;529;548	ENSP00000361483:E577K;ENSP00000336988:E529K;ENSP00000361487:E548K	ENSP00000336988:E529K	E	+	1	0	GPR107	131937147	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	5.322000	0.65852	2.493000	0.84123	0.462000	0.41574	GAA	GPR107	-	NULL		0.522	GPR107-003	NOVEL	basic|CCDS	protein_coding	GPR107	HGNC	protein_coding	OTTHUMT00000054643.2	G			132897326	+1	no_errors	ENST00000372406	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR112	139378	genome.wustl.edu	37	X	135405122	135405122	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:135405122G>C	ENST00000394143.1	+	5	547	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.E23Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E86Q|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	86					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(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTGGGCAGAGAAGACATAGA	0.448																																																	0													145.0	133.0	137.0					X																	135405122		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.256G>C	X.37:g.135405122G>C	ENSP00000377699:p.Glu86Gln		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E86Q	ENST00000394143.1	37	c.256	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878036	0.51801	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.62498	3.26;3.26;0.02	5.51	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.64000	0.2559	N	0.24115	0.695	0.09310	N	0.999999	D	0.89917	1.0	D	0.72982	0.979	T	0.53718	-0.8399	9	0.72032	D	0.01	.	7.0551	0.25095	0.0957:0.1712:0.7332:0.0	.	86	Q8IZF6	GP112_HUMAN	Q	86;86;23	ENSP00000377699:E86Q;ENSP00000359686:E86Q;ENSP00000287534:E23Q	ENSP00000287534:E23Q	E	+	1	0	GPR112	135232788	0.101000	0.21875	0.998000	0.56505	0.768000	0.43524	0.759000	0.26461	2.292000	0.77174	0.513000	0.50165	GAA	GPR112	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	G			135405122	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.842	C
C5AR2	27202	genome.wustl.edu	37	19	47844929	47844929	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:47844929C>T	ENST00000595464.1	+	2	1091	c.873C>T	c.(871-873)ttC>ttT	p.F291F	C5AR2_ENST00000257267.2_Silent_p.F291F|C5AR2_ENST00000600626.1_Silent_p.F291F	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	291					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										CCATGCTCTTCCTGTATTTTG	0.652																																																	0													60.0	57.0	58.0					19																	47844929		2203	4300	6503	SO:0001819	synonymous_variant	27202			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.873C>T	19.37:g.47844929C>T			B2RA09	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt	p.F291	ENST00000595464.1	37	c.873	CCDS12699.1	19																																																																																			GPR77	-	pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.652	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR77	HGNC	protein_coding	OTTHUMT00000466926.1	C	NM_018485		47844929	+1	no_errors	ENST00000257267	ensembl	human	known	70_37	silent	SNP	1.000	T
GPR97	222487	genome.wustl.edu	37	16	57712222	57712222	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:57712222C>T	ENST00000333493.4	+	4	647	c.486C>T	c.(484-486)ctC>ctT	p.L162L	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L42L|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	162					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGGGACTCTCTTCAAGGTGA	0.572																																																	0													100.0	89.0	93.0					16																	57712222		2198	4300	6498	SO:0001819	synonymous_variant	222487			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.486C>T	16.37:g.57712222C>T			Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L162	ENST00000333493.4	37	c.486	CCDS10786.1	16																																																																																			GPR97	-	NULL		0.572	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	HGNC	protein_coding	OTTHUMT00000257333.2	C	NM_170776		57712222	+1	no_errors	ENST00000333493	ensembl	human	known	70_37	silent	SNP	0.584	T
GRAMD1A	57655	genome.wustl.edu	37	19	35501052	35501052	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:35501052G>A	ENST00000317991.5	+	5	574	c.382G>A	c.(382-384)Gag>Aag	p.E128K	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.E121K|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.E215K|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.E128K|GRAMD1A_ENST00000504615.2_5'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	128	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTACCTCTCTGAGAACTGGAT	0.662																																																	0													95.0	98.0	97.0					19																	35501052		1938	4137	6075	SO:0001583	missense	57655			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.382G>A	19.37:g.35501052G>A	ENSP00000441032:p.Glu128Lys		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E128K	ENST00000317991.5	37	c.382	CCDS42546.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.689916	0.96784	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	D;D	0.87571	-2.27;-2.27	5.38	5.38	0.77491	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.92870	0.7732	M	0.70595	2.14	0.80722	D	1	P;D;P;P	0.76494	0.676;0.999;0.917;0.672	P;D;P;B	0.83275	0.805;0.996;0.868;0.336	D	0.93115	0.6520	10	0.72032	D	0.01	.	16.6817	0.85294	0.0:0.0:1.0:0.0	.	128;128;121;215	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	K	215;128;121	ENSP00000441032:E128K;ENSP00000439267:E121K	ENSP00000441032:E128K	E	+	1	0	GRAMD1A	40192892	1.000000	0.71417	0.967000	0.41034	0.912000	0.54170	9.462000	0.97649	2.793000	0.96121	0.655000	0.94253	GAG	GRAMD1A	-	pfam_GRAM,smart_GRAM		0.662	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	GRAMD1A	HGNC	protein_coding	OTTHUMT00000461557.1	G	NM_020895		35501052	+1	no_errors	ENST00000317991	ensembl	human	known	70_37	missense	SNP	1.000	A
GRID1	2894	genome.wustl.edu	37	10	87484394	87484394	+	Missense_Mutation	SNP	C	C	G	rs201971845		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:87484394C>G	ENST00000327946.7	-	11	1658	c.1573G>C	c.(1573-1575)Gag>Cag	p.E525Q	GRID1_ENST00000536331.1_Missense_Mutation_p.E96Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	525					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTCTCCCTCTCTGGGGTGATG	0.512										Multiple Myeloma(13;0.14)																																							0													66.0	63.0	64.0					10																	87484394		2203	4300	6503	SO:0001583	missense	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1573G>C	10.37:g.87484394C>G	ENSP00000330148:p.Glu525Gln		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E525Q	ENST00000327946.7	37	c.1573	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953982	0.73902	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.38560	1.13;1.13	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.62397	-0.6863	10	0.48119	T	0.1	.	19.0851	0.93200	0.0:1.0:0.0:0.0	.	525	Q9ULK0	GRID1_HUMAN	Q	525;96	ENSP00000330148:E525Q;ENSP00000444455:E96Q	ENSP00000330148:E525Q	E	-	1	0	GRID1	87474374	1.000000	0.71417	0.982000	0.44146	0.685000	0.39939	7.818000	0.86416	2.741000	0.93983	0.650000	0.86243	GAG	GRID1	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.512	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	C	XM_043613		87484394	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	missense	SNP	1.000	G
GRIN2C	2905	genome.wustl.edu	37	17	72843459	72843459	+	Silent	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:72843459G>T	ENST00000293190.5	-	9	2135	c.1989C>A	c.(1987-1989)ctC>ctA	p.L663L	GRIN2C_ENST00000347612.4_Silent_p.L663L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	663					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTTGTCACTGAGGCCCGACA	0.622																																																	0													93.0	85.0	87.0					17																	72843459		2203	4300	6503	SO:0001819	synonymous_variant	2905				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1989C>A	17.37:g.72843459G>T			B2RTT1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L663	ENST00000293190.5	37	c.1989	CCDS32724.1	17																																																																																			GRIN2C	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.622	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	G			72843459	-1	no_errors	ENST00000293190	ensembl	human	known	70_37	silent	SNP	1.000	T
GRIP1	23426	genome.wustl.edu	37	12	66800072	66800072	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:66800072C>T	ENST00000398016.3	-	15	1887	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	GRIP1_ENST00000359742.4_Missense_Mutation_p.D659N|GRIP1_ENST00000542021.1_5'UTR|GRIP1_ENST00000286445.7_Missense_Mutation_p.D659N	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCTGAATTATCTTCATCTTTG	0.393																																																	0													126.0	115.0	118.0					12																	66800072		1896	4127	6023	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1819G>A	12.37:g.66800072C>T	ENSP00000381098:p.Asp607Asn		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D659N	ENST00000398016.3	37	c.1975	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657889	0.88154	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.01;2.07;2.09	5.48	5.48	0.80851	PDZ/DHR/GLGF (1);	0.044111	0.85682	D	0.000000	T	0.47488	0.1448	M	0.68317	2.08	0.58432	D	0.999999	P;P;P;D	0.71674	0.934;0.925;0.875;0.998	P;P;P;D	0.85130	0.887;0.802;0.863;0.997	T	0.23476	-1.0187	9	.	.	.	-16.8167	19.7268	0.96166	0.0:1.0:0.0:0.0	.	607;659;607;659	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	N	607;659;659;607;551;499	ENSP00000381098:D607N;ENSP00000352780:D659N;ENSP00000286445:D659N;ENSP00000446047:D607N;ENSP00000446024:D551N;ENSP00000446011:D499N	.	D	-	1	0	GRIP1	65086339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.074000	0.71253	2.739000	0.93911	0.491000	0.48974	GAT	GRIP1	-	superfamily_PDZ		0.393	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66800072	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	T
GRM6	2916	genome.wustl.edu	37	5	178413374	178413374	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:178413374G>C	ENST00000517717.1	-	9	1919	c.1881C>G	c.(1879-1881)ctC>ctG	p.L627L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.L627L			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	627					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCCGGTGAGGAGGACGTAGC	0.667																																																	0													54.0	48.0	50.0					5																	178413374		2203	4300	6503	SO:0001819	synonymous_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1881C>G	5.37:g.178413374G>C				Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.L627	ENST00000517717.1	37	c.1881	CCDS4442.1	5																																																																																			GRM6	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.667	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	G			178413374	-1	no_errors	ENST00000231188	ensembl	human	known	70_37	silent	SNP	0.892	C
GRPR	2925	genome.wustl.edu	37	X	16142202	16142202	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:16142202C>T	ENST00000380289.2	+	1	524	c.126C>T	c.(124-126)gtC>gtT	p.V42V		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	42					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCCTCTATGTCATCCCTGCAG	0.493											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													206.0	184.0	192.0					X																	16142202		2203	4300	6503	SO:0001819	synonymous_variant	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.126C>T	X.37:g.16142202C>T		708	B2R910	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.V42	ENST00000380289.2	37	c.126	CCDS14174.1	X																																																																																			GRPR	-	prints_GPCR_Rhodpsn		0.493	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	C	NM_005314		16142202	+1	no_errors	ENST00000380289	ensembl	human	known	70_37	silent	SNP	1.000	T
GRXCR1	389207	genome.wustl.edu	37	4	43032426	43032426	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:43032426C>T	ENST00000399770.2	+	4	742	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	248					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CTTTGGCTTTCTTCCATGCTC	0.478																																																	0													140.0	133.0	136.0					4																	43032426		1972	4155	6127	SO:0001583	missense	389207				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.742C>T	4.37:g.43032426C>T	ENSP00000382670:p.Leu248Phe			Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.L248F	ENST00000399770.2	37	c.742	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653049	0.29336	.	.	ENSG00000215203	ENST00000399770	T	0.24908	1.83	5.53	4.67	0.58626	.	0.204109	0.33057	U	0.005325	T	0.27134	0.0665	L	0.52905	1.665	0.41553	D	0.98858	B	0.29085	0.232	B	0.25759	0.063	T	0.07693	-1.0759	10	0.87932	D	0	-4.4715	14.6786	0.69001	0.1464:0.8536:0.0:0.0	.	248	A8MXD5	GRCR1_HUMAN	F	248	ENSP00000382670:L248F	ENSP00000382670:L248F	L	+	1	0	GRXCR1	42727183	1.000000	0.71417	0.957000	0.39632	0.291000	0.27294	1.510000	0.35790	1.301000	0.44836	0.579000	0.79373	CTT	GRXCR1	-	superfamily_HSP_DnaJ_Cys-rich_dom		0.478	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	C	NM_001080476		43032426	+1	no_errors	ENST00000399770	ensembl	human	known	70_37	missense	SNP	1.000	T
GSDMC	56169	genome.wustl.edu	37	8	130762759	130762759	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:130762759G>A	ENST00000276708.4	-	11	1882	c.1001C>T	c.(1000-1002)tCa>tTa	p.S334L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	334						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACATCCTTTGAGAGCTGAGC	0.498																																																	0													135.0	120.0	125.0					8																	130762759		2203	4300	6503	SO:0001583	missense	56169			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1001C>T	8.37:g.130762759G>A	ENSP00000276708:p.Ser334Leu		Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.S334L	ENST00000276708.4	37	c.1001	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248251	0.59103	.	.	ENSG00000147697	ENST00000276708	T	0.26373	1.74	5.35	4.48	0.54585	.	0.396062	0.20847	N	0.084595	T	0.44350	0.1289	M	0.64567	1.98	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.26121	-1.0112	10	0.66056	D	0.02	.	9.938	0.41563	0.0916:0.0:0.9084:0.0	.	334	Q9BYG8	GSDMC_HUMAN	L	334	ENSP00000276708:S334L	ENSP00000276708:S334L	S	-	2	0	GSDMC	130831941	0.027000	0.19231	0.005000	0.12908	0.010000	0.07245	2.536000	0.45693	1.494000	0.48533	0.591000	0.81541	TCA	GSDMC	-	pfam_Gasdermin		0.498	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	G			130762759	-1	no_errors	ENST00000276708	ensembl	human	known	70_37	missense	SNP	0.004	A
GSTA2	2939	genome.wustl.edu	37	6	52619832	52619832	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:52619832C>G	ENST00000493422.1	-	4	336	c.181G>C	c.(181-183)Gat>Cat	p.D61H		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	61	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.D61H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	TTCATCCCATCAATCTCAACC	0.423																																																	1	Substitution - Missense(1)	breast(1)											125.0	124.0	125.0					6																	52619832		2203	4298	6501	SO:0001583	missense	2939			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.181G>C	6.37:g.52619832C>G	ENSP00000420168:p.Asp61His		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.D61H	ENST00000493422.1	37	c.181	CCDS4944.1	6	.	.	.	.	.	.	.	.	.	.	c	18.33	3.601363	0.66445	.	.	ENSG00000244067	ENST00000493422	T	0.18960	2.18	3.64	3.64	0.41730	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.171957	0.49305	D	0.000156	T	0.60248	0.2254	H	0.99634	4.67	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.79652	-0.1714	10	0.72032	D	0.01	.	14.173	0.65522	0.0:1.0:0.0:0.0	.	61	P09210	GSTA2_HUMAN	H	61	ENSP00000420168:D61H	ENSP00000420168:D61H	D	-	1	0	GSTA2	52727791	1.000000	0.71417	0.997000	0.53966	0.826000	0.46750	5.277000	0.65586	1.600000	0.50102	0.306000	0.20318	GAT	GSTA2	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.423	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA2	HGNC	protein_coding	OTTHUMT00000043589.1	C	NM_000846		52619832	-1	no_errors	ENST00000493422	ensembl	human	known	70_37	missense	SNP	1.000	G
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72657426	72657426	+	RNA	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:72657426G>C	ENST00000425256.1	-	0	2485									GTF2I repeat domain containing 2 pseudogene 1																		aacatggaaagaatctttgcg	0.468																																																	0																																												401375			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657426G>C				RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-		0.468	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	G	NR_002164		72657426	-1	no_errors	ENST00000425256	ensembl	human	known	70_37	rna	SNP	0.611	C
GUSBP2	387036	genome.wustl.edu	37	6	26892977	26892977	+	RNA	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:26892977C>T	ENST00000463434.1	-	0	15									glucuronidase, beta pseudogene 2																		TAGGAAGCTTCAGGACTACAC	0.413																																																	0																																												387036					6p21	2011-06-09	2011-06-09	2011-06-09	ENSG00000241549	ENSG00000241549			18792	pseudogene	pseudogene			"""spinal muscular atrophy candidate gene 3-like 2"", ""glucuronidase, beta-like 1"""	SMAC3L2, GUSBL1			Standard	NR_003504		Approved	bA239L20.5, bA239L20.1, SMA3-L, bGLU-Lp, SMAC3L	uc003nim.2		OTTHUMG00000014462		6.37:g.26892977C>T				RNA	SNP	-	NULL	ENST00000463434.1	37	NULL		6																																																																																			GUSBP2	-	-		0.413	GUSBP2-003	KNOWN	basic	processed_transcript	GUSBP2	HGNC	pseudogene	OTTHUMT00000314060.1	C			26892977	-1	no_errors	ENST00000463434	ensembl	human	known	70_37	rna	SNP	0.001	T
GYS1	2997	genome.wustl.edu	37	19	49472556	49472556	+	Missense_Mutation	SNP	C	C	G	rs546920953		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:49472556C>G	ENST00000323798.3	-	16	2399	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	GYS1_ENST00000544287.1_Missense_Mutation_p.E368Q|GYS1_ENST00000541188.1_Missense_Mutation_p.E655Q|GYS1_ENST00000263276.6_Missense_Mutation_p.E671Q	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	735					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TAGTTACGCTCCTCGCCCAGG	0.667																																																	0													15.0	16.0	15.0					19																	49472556		2192	4286	6478	SO:0001583	missense	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.2203G>C	19.37:g.49472556C>G	ENSP00000317904:p.Glu735Gln		Q9BTT9	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.E735Q	ENST00000323798.3	37	c.2203	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522840	0.64747	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.76060	-0.25;-0.56;-0.14;-0.99	5.34	5.34	0.76211	.	0.355880	0.31936	N	0.006833	T	0.67664	0.2917	N	0.19112	0.55	0.80722	D	1	D;D;D	0.58268	0.982;0.982;0.982	P;B;P	0.46825	0.528;0.431;0.528	T	0.73760	-0.3881	10	0.87932	D	0	-23.2883	16.9034	0.86119	0.0:1.0:0.0:0.0	.	655;671;735	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	Q	735;671;655;368	ENSP00000317904:E735Q;ENSP00000263276:E671Q;ENSP00000437922:E655Q;ENSP00000444004:E368Q	ENSP00000263276:E671Q	E	-	1	0	GYS1	54164368	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.461000	0.60115	2.660000	0.90430	0.462000	0.41574	GAG	GYS1	-	NULL		0.667	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	C	NM_002103		49472556	-1	no_errors	ENST00000323798	ensembl	human	known	70_37	missense	SNP	1.000	G
H3F3B	3021	genome.wustl.edu	37	17	73774739	73774739	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:73774739C>T	ENST00000254810.4	-	4	480	c.348G>A	c.(346-348)aaG>aaA	p.K116K	H3F3B_ENST00000589599.1_Silent_p.K116K|H3F3B_ENST00000586607.1_Silent_p.K116K|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000587560.1_Silent_p.K116K|H3F3B_ENST00000592643.1_Missense_Mutation_p.R92K	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	116					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGTGACTCTCTTAGCGTGGA	0.507																																																	0													126.0	121.0	123.0					17																	73774739		2203	4300	6503	SO:0001819	synonymous_variant	3021			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.348G>A	17.37:g.73774739C>T			P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	superfamily_Histone-fold,prints_Histone_H3	p.R92K	ENST00000254810.4	37	c.275	CCDS11729.1	17																																																																																			H3F3B	-	NULL		0.507	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1	C	NM_005324		73774739	-1	no_errors	ENST00000592643	ensembl	human	putative	70_37	missense	SNP	1.000	T
HCK	3055	genome.wustl.edu	37	20	30659515	30659515	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:30659515C>G	ENST00000520553.1	+	2	296	c.50C>G	c.(49-51)tCa>tGa	p.S17*	HCK_ENST00000534862.1_Nonsense_Mutation_p.S18*|HCK_ENST00000538448.1_Nonsense_Mutation_p.S17*|HCK_ENST00000518730.1_Nonsense_Mutation_p.S17*|HCK_ENST00000375862.2_Nonsense_Mutation_p.S38*|HCK_ENST00000375852.2_Nonsense_Mutation_p.S38*	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	38					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	AATACATTCTCAAAAACTGAA	0.577																																																	0													120.0	99.0	106.0					20																	30659515		2203	4300	6503	SO:0001587	stop_gained	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.50C>G	20.37:g.30659515C>G	ENSP00000429848:p.Ser17*		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.S38*	ENST00000520553.1	37	c.113	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990972	0.74703	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	.	.	.	4.28	2.28	0.28536	.	0.505196	0.16161	N	0.226763	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	5.1956	0.15236	0.0:0.6726:0.2137:0.1137	.	.	.	.	X	18;17;38;17;17;38	.	ENSP00000365012:S38X	S	+	2	0	HCK	30123176	0.005000	0.15991	0.769000	0.31535	0.216000	0.24613	1.150000	0.31639	1.120000	0.41904	0.305000	0.20034	TCA	HCK	-	NULL		0.577	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	HGNC	protein_coding	OTTHUMT00000375751.1	C			30659515	+1	no_errors	ENST00000375852	ensembl	human	known	70_37	nonsense	SNP	0.709	G
HECTD4	283450	genome.wustl.edu	37	12	112608139	112608139	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:112608139C>T	ENST00000430131.2	-	68	11929	c.10784G>A	c.(10783-10785)gGa>gAa	p.G3595E	HECTD4_ENST00000377560.5_Missense_Mutation_p.G3845E|HECTD4_ENST00000550722.1_Missense_Mutation_p.G3871E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3595					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AACCCCACCTCCCACAATTTC	0.552																																																	0													52.0	54.0	53.0					12																	112608139		1992	4179	6171	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10784G>A	12.37:g.112608139C>T	ENSP00000404379:p.Gly3595Glu		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.G3845E	ENST00000430131.2	37	c.11534		12	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005461	0.93287	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.45668	0.89;0.9;0.89	5.98	5.98	0.97165	.	.	.	.	.	T	0.48589	0.1508	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.57510	-0.7799	9	0.54805	T	0.06	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	3595	Q9Y4D8	K0614_HUMAN	E	3845;3595;3871	ENSP00000366783:G3845E;ENSP00000404379:G3595E;ENSP00000449784:G3871E	ENSP00000366783:G3845E	G	-	2	0	C12orf51	111092522	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.456000	0.80751	2.837000	0.97791	0.591000	0.81541	GGA	HECTD4	-	NULL		0.552	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		C	NM_173813		112608139	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	1.000	T
HECW2	57520	genome.wustl.edu	37	2	197183690	197183690	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:197183690C>G	ENST00000260983.3	-	9	2106	c.1924G>C	c.(1924-1926)Gac>Cac	p.D642H	HECW2_ENST00000409111.1_Missense_Mutation_p.D286H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	642					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAGGAGCTGTCAGCGCATTCC	0.582																																																	0													99.0	77.0	84.0					2																	197183690		2203	4300	6503	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1924G>C	2.37:g.197183690C>G	ENSP00000260983:p.Asp642His		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.D642H	ENST00000260983.3	37	c.1924	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828395	0.50845	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.38077	1.16;1.23	5.19	4.29	0.51040	.	0.506759	0.21774	N	0.069314	T	0.23926	0.0579	N	0.19112	0.55	0.34451	D	0.700714	B	0.09022	0.002	B	0.10450	0.005	T	0.22836	-1.0205	10	0.72032	D	0.01	.	9.2826	0.37737	0.0:0.7777:0.1467:0.0756	.	642	Q9P2P5	HECW2_HUMAN	H	286;642	ENSP00000386775:D286H;ENSP00000260983:D642H	ENSP00000260983:D642H	D	-	1	0	HECW2	196891935	0.977000	0.34250	0.866000	0.34008	0.819000	0.46315	2.336000	0.43938	1.375000	0.46248	0.561000	0.74099	GAC	HECW2	-	NULL		0.582	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	C	NM_020760		197183690	-1	no_errors	ENST00000260983	ensembl	human	known	70_37	missense	SNP	0.935	G
HERC6	55008	genome.wustl.edu	37	4	89361087	89361087	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:89361087G>C	ENST00000264346.7	+	21	2676	c.2617G>C	c.(2617-2619)Gag>Cag	p.E873Q	HERC6_ENST00000380265.5_Missense_Mutation_p.E837Q	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	873	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGCAGTTTATGAGGAATTTCA	0.318																																																	0													41.0	39.0	40.0					4																	89361087		1847	4115	5962	SO:0001583	missense	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2617G>C	4.37:g.89361087G>C	ENSP00000264346:p.Glu873Gln		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E873Q	ENST00000264346.7	37	c.2617	CCDS47098.1	4	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672803	0.67928	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.48522	0.81;0.81	4.76	3.0	0.34707	HECT (4);	0.301586	0.26883	N	0.022019	T	0.61073	0.2318	M	0.69523	2.12	0.80722	D	1	D;D	0.64830	0.992;0.994	P;D	0.63793	0.866;0.918	T	0.59643	-0.7416	10	0.46703	T	0.11	.	9.3975	0.38412	0.0813:0.1455:0.7731:0.0	.	837;873	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	Q	837;873	ENSP00000369617:E837Q;ENSP00000264346:E873Q	ENSP00000264346:E873Q	E	+	1	0	HERC6	89580110	0.962000	0.33011	0.995000	0.50966	0.987000	0.75469	0.452000	0.21795	0.709000	0.31976	0.585000	0.79938	GAG	HERC6	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.318	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	G			89361087	+1	no_errors	ENST00000264346	ensembl	human	known	70_37	missense	SNP	1.000	C
HEXB	3074	genome.wustl.edu	37	5	74009455	74009455	+	Missense_Mutation	SNP	G	G	T	rs550315046		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:74009455G>T	ENST00000261416.7	+	7	1013	c.896G>T	c.(895-897)gGa>gTa	p.G299V	HEXB_ENST00000511181.1_Missense_Mutation_p.G74V	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	299					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		CTATCTTGGGGAAAAGGTAAG	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17186	0.0		0.0	False		,,,				2504	0.0				Melanoma(66;841 1270 13391 18706 27225)												0													108.0	106.0	107.0					5																	74009455		2203	4300	6503	SO:0001583	missense	3074			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.896G>T	5.37:g.74009455G>T	ENSP00000261416:p.Gly299Val			Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub	p.G299V	ENST00000261416.7	37	c.896	CCDS4022.1	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392466	0.83011	.	.	ENSG00000049860	ENST00000511181;ENST00000261416	D;D	0.94966	-3.57;-3.57	5.59	5.59	0.84812	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98014	1.0367	10	0.87932	D	0	-21.3603	19.5902	0.95508	0.0:0.0:1.0:0.0	.	299	P07686	HEXB_HUMAN	V	74;299	ENSP00000426285:G74V;ENSP00000261416:G299V	ENSP00000261416:G299V	G	+	2	0	HEXB	74045211	1.000000	0.71417	0.997000	0.53966	0.679000	0.39708	9.869000	0.99810	2.629000	0.89072	0.555000	0.69702	GGA	HEXB	-	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF		0.388	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXB	HGNC	protein_coding	OTTHUMT00000219859.6	G	NM_000521		74009455	+1	no_errors	ENST00000261416	ensembl	human	known	70_37	missense	SNP	1.000	T
HFM1	164045	genome.wustl.edu	37	1	91784910	91784910	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:91784910C>G	ENST00000370425.3	-	24	2718	c.2620G>C	c.(2620-2622)Gat>Cat	p.D874H	HFM1_ENST00000370424.3_Missense_Mutation_p.D553H|HFM1_ENST00000294696.5_Missense_Mutation_p.D106H|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	874	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.D874N(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAAGCAAAATCTTGTATGGGA	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											113.0	108.0	109.0					1																	91784910		2203	4300	6503	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2620G>C	1.37:g.91784910C>G	ENSP00000359454:p.Asp874His		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D874H	ENST00000370425.3	37	c.2620	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.554967|4.554967	0.86231|0.86231	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.61040|.	0.14;0.14;0.14|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Sec63 domain (2);|.	0.052941|.	0.85682|.	D|.	0.000000|.	T|T	0.71736|0.71736	0.3375|0.3375	M|M	0.76727|0.76727	2.345|2.345	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.987;0.997;0.998|.	T|T	0.71935|0.71935	-0.4442|-0.4442	10|5	0.72032|.	D|.	0.01|.	.|.	18.6527|18.6527	0.91437|0.91437	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	553;129;874|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	H|N	874;106;553;558|129	ENSP00000359454:D874H;ENSP00000294696:D106H;ENSP00000359453:D553H|.	ENSP00000294696:D106H|.	D|K	-|-	1|3	0|2	HFM1|HFM1	91557498|91557498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.776000|7.776000	0.85560|0.85560	2.467000|2.467000	0.83353|0.83353	0.650000|0.650000	0.86243|0.86243	GAT|AAG	HFM1	-	pfam_Sec63-dom,smart_Sec63-dom		0.353	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	C	NM_001017975		91784910	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	1.000	G
HINT1	3094	genome.wustl.edu	37	5	130495251	130495251	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:130495251C>G	ENST00000304043.5	-	3	549	c.270G>C	c.(268-270)ctG>ctC	p.L90L	HINT1_ENST00000506207.1_5'UTR	NM_005340.6	NP_005331.1	P49773	HINT1_HUMAN	histidine triad nucleotide binding protein 1	90	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|purine ribonucleotide catabolic process (GO:0009154)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|protein kinase C binding (GO:0005080)			endometrium(1)|large_intestine(1)|lung(3)	5		all_cancers(142;0.0452)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Adenosine monophosphate(DB00131)	AACCCTTATTCAGGCCCAGAT	0.433																																																	0													160.0	124.0	136.0					5																	130495251		2203	4300	6503	SO:0001819	synonymous_variant	3094			BC007090	CCDS4147.1	5q31.2	2010-03-30	2001-11-28	2002-03-08	ENSG00000169567	ENSG00000169567			4912	protein-coding gene	gene with protein product		601314	"""histidine triad nucleotide-binding protein"""	PRKCNH1, HINT		8812426	Standard	NM_005340		Approved	PKCI-1	uc003kve.4	P49773	OTTHUMG00000128995	ENST00000304043.5:c.270G>C	5.37:g.130495251C>G			Q9H5W8	Silent	SNP	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT,prints_Histidine_triad_HIT	p.L90	ENST00000304043.5	37	c.270	CCDS4147.1	5																																																																																			HINT1	-	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT		0.433	HINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINT1	HGNC	protein_coding	OTTHUMT00000250984.1	C	NM_005340		130495251	-1	no_errors	ENST00000304043	ensembl	human	known	70_37	silent	SNP	0.315	G
HIP1	3092	genome.wustl.edu	37	7	75171284	75171284	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:75171284G>C	ENST00000336926.6	-	29	2932	c.2906C>G	c.(2905-2907)tCa>tGa	p.S969*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.S918*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	969	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGTCATGCTTGAGAAGTCCAT	0.488			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													188.0	168.0	175.0					7																	75171284		2203	4300	6503	SO:0001587	stop_gained	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2906C>G	7.37:g.75171284G>C	ENSP00000336747:p.Ser969*		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Nonsense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.S969*	ENST00000336926.6	37	c.2906	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.585923	0.98875	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.4854	16.973	0.86305	0.0:0.0:1.0:0.0	.	.	.	.	X	969;918	.	ENSP00000336747:S969X	S	-	2	0	HIP1	75009220	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	8.918000	0.92759	2.334000	0.79466	0.563000	0.77884	TCA	HIP1	-	pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ		0.488	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	G	NM_005338		75171284	-1	no_errors	ENST00000336926	ensembl	human	known	70_37	nonsense	SNP	1.000	C
HIST1H3C	8352	genome.wustl.edu	37	6	26045930	26045930	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:26045930G>C	ENST00000540144.1	+	1	292	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGAGGCTTGTGAGGCCTACCT	0.577																																																	0													62.0	57.0	59.0					6																	26045930		2203	4300	6503	SO:0001583	missense	8352			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.292G>C	6.37:g.26045930G>C	ENSP00000439493:p.Glu98Gln		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E98Q	ENST00000540144.1	37	c.292	CCDS4576.1	6	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033097	0.54896	.	.	ENSG00000196532	ENST00000540144	T	0.78481	-1.18	4.38	4.38	0.52667	.	.	.	.	.	D	0.83585	0.5286	.	.	.	0.43467	D	0.995675	.	.	.	.	.	.	D	0.86112	0.1563	6	0.87932	D	0	.	16.8064	0.85706	0.0:0.0:1.0:0.0	.	.	.	.	Q	98	ENSP00000439493:E98Q	ENSP00000439493:E98Q	E	+	1	0	HIST1H3C	26153909	1.000000	0.71417	0.985000	0.45067	0.409000	0.31022	7.646000	0.83445	2.378000	0.81104	0.491000	0.48974	GAG	HIST1H3C	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.577	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3C	HGNC	protein_coding	OTTHUMT00000040078.1	G	NM_003531		26045930	+1	no_errors	ENST00000540144	ensembl	human	known	70_37	missense	SNP	1.000	C
HIST1H1E	3008	genome.wustl.edu	37	6	26156771	26156771	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:26156771C>T	ENST00000304218.3	+	1	213	c.153C>T	c.(151-153)tcC>tcT	p.S51S	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	51	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TTGCCGCCTCCAAGGAGCGCA	0.612																																																	0													24.0	28.0	27.0					6																	26156771		2203	4300	6503	SO:0001819	synonymous_variant	3008			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.153C>T	6.37:g.26156771C>T			Q4VB25	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.S51	ENST00000304218.3	37	c.153	CCDS4586.1	6																																																																																			HIST1H1E	-	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5		0.612	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1	C	NM_005321		26156771	+1	no_errors	ENST00000304218	ensembl	human	known	70_37	silent	SNP	1.000	T
HLA-A	3105	genome.wustl.edu	37	6	29912835	29912835	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:29912835G>C	ENST00000396634.1	+	8	1353		c.e8-1		HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTTCTCACAGATAGAAAAGG	0.502									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													91.0	104.0	99.0					6																	29912835		1510	2708	4218	SO:0001630	splice_region_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.1013-1G>C	6.37:g.29912835G>C			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	-	e6-1	ENST00000396634.1	37	c.1031-1	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	g	7.918	0.738027	0.15574	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809	.	.	.	3.4	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.49582	D	0.999804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4963	0.44778	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30020814	0.021000	0.18746	0.009000	0.14445	0.016000	0.09150	1.233000	0.32648	1.908000	0.55244	0.485000	0.47835	.	HLA-A	-	-		0.502	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116	Intron	29912835	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	splice_site	SNP	0.013	C
HLA-B	3106	genome.wustl.edu	37	6	31323241	31323241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:31323241G>A	ENST00000412585.2	-	4	776	c.748C>T	c.(748-750)Cag>Tag	p.Q250*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	250	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													112.0	98.0	102.0					6																	31323241		2203	4300	6503	SO:0001587	stop_gained	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.748C>T	6.37:g.31323241G>A	ENSP00000399168:p.Gln250*		Q29764	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.Q250*	ENST00000412585.2	37	c.748	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	12.13	1.844719	0.32606	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	.	.	.	3.16	3.16	0.36331	.	0.000000	0.39834	U	0.001254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2525	0.54605	0.0:0.0:1.0:0.0	.	.	.	.	X	250;129;129	.	ENSP00000399168:Q250X	Q	-	1	0	HLA-B	31431220	0.998000	0.40836	0.983000	0.44433	0.035000	0.12851	3.446000	0.52928	1.804000	0.52760	0.442000	0.29010	CAG	HLA-B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	G	NM_005514		31323241	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	nonsense	SNP	0.967	A
HLA-E	3133	genome.wustl.edu	37	6	30458199	30458199	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30458199G>A	ENST00000376630.4	+	3	582	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	173	Alpha-2.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TGATGCCTCTGAGGCGGAGCA	0.582																																																	0													64.0	62.0	62.0					6																	30458199		1510	2709	4219	SO:0001583	missense	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.517G>A	6.37:g.30458199G>A	ENSP00000365817:p.Glu173Lys		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E173K	ENST00000376630.4	37	c.517	CCDS34379.1	6	.	.	.	.	.	.	.	.	.	.	.	13.01	2.108214	0.37242	.	.	ENSG00000204592	ENST00000376630	T	0.00010	9.44	1.67	0.729	0.18266	.	6.075450	0.01049	U	0.004421	T	0.00073	0.0002	M	0.75777	2.31	0.09310	N	1	D;D	0.76494	0.994;0.999	P;D	0.79784	0.807;0.993	T	0.50406	-0.8832	10	0.16420	T	0.52	.	5.0777	0.14640	0.0:0.0:0.6512:0.3488	.	214;173	E7ENN9;Q6DU44	.;.	K	173	ENSP00000365817:E173K	ENSP00000365817:E173K	E	+	1	0	HLA-E	30566178	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.395000	0.07287	0.238000	0.21222	-0.521000	0.04368	GAG	HLA-E	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.582	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-E	HGNC	protein_coding	OTTHUMT00000076282.2	G	NM_005516		30458199	+1	no_errors	ENST00000376630	ensembl	human	known	70_37	missense	SNP	0.002	A
HLA-DQB1	3119	genome.wustl.edu	37	6	32629155	32629155	+	Silent	SNP	C	C	A	rs1130431	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:32629155C>A	ENST00000399084.1	-	5	919	c.741G>T	c.(739-741)ctG>ctT	p.L247L	HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000399079.3_Intron|HLA-DQB1_ENST00000374943.4_Silent_p.L247L|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000460185.1_5'Flank|HLA-DQB1_ENST00000434651.2_Silent_p.L247L			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	247					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	TGATAAGGCCCAGCCCAAGGA	0.562									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				.|||	1368	0.273163	0.2821	0.196	5008	,	,		12357	0.3254		0.2485	False		,,,				2504	0.2873				Esophageal Squamous(151;720 1825 15000 40336 43415)												0								C		1110,2826		383,344,1241	34.0	30.0	31.0		741	-1.8	0.1	6	dbSNP_130	31	1989,5829		704,581,2624	no	coding-synonymous	HLA-DQB1	NM_002123.4		1087,925,3865	AA,AC,CC		25.4413,28.2012,26.3655		247/262	32629155	3099,8655	1968	3909	5877	SO:0001819	synonymous_variant	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.741G>T	6.37:g.32629155C>A			A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.L247	ENST00000399084.1	37	c.741	CCDS43451.1	6																																																																																			HLA-DQB1	-	NULL		0.562	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HLA-DQB1	HGNC	protein_coding	OTTHUMT00000276127.1	C	NM_002123		32629155	-1	no_errors	ENST00000374943	ensembl	human	known	70_37	silent	SNP	0.219	A
HLX	3142	genome.wustl.edu	37	1	221055497	221055497	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:221055497C>T	ENST00000366903.6	+	3	2273				HLX_ENST00000549319.1_Missense_Mutation_p.S41F|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox						cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGCTCCCGTTCTGCGGCAGGT	0.582																																																	0													36.0	31.0	33.0					1																	221055497		2202	4288	6490	SO:0001627	intron_variant	3142			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.773-9C>T	1.37:g.221055497C>T			B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeodomain	p.S41F	ENST00000366903.6	37	c.122	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309374	0.40895	.	.	ENSG00000136630	ENST00000549319	D	0.91631	-2.88	5.47	-3.95	0.04118	.	.	.	.	.	D	0.90017	0.6883	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.83686	0.0174	6	0.66056	D	0.02	.	8.7324	0.34507	0.0:0.2499:0.1202:0.63	.	.	.	.	F	41	ENSP00000449882:S41F	ENSP00000449882:S41F	S	+	2	0	HLX	219122120	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.132000	0.03235	-1.276000	0.02414	-1.080000	0.02220	TCT	HLX	-	NULL		0.582	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	C	NM_021958		221055497	+1	no_errors	ENST00000549319	ensembl	human	putative	70_37	missense	SNP	0.000	T
HMMR	3161	genome.wustl.edu	37	5	162909670	162909670	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:162909670G>A	ENST00000358715.3	+	13	1441	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	HMMR_ENST00000353866.3_Missense_Mutation_p.E454K|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.E470K|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Missense_Mutation_p.E383K			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	469					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AACAGCCAGTGAGATAGAAGA	0.358																																																	0													60.0	62.0	61.0					5																	162909670		2203	4300	6503	SO:0001583	missense	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1405G>A	5.37:g.162909670G>A	ENSP00000351554:p.Glu469Lys		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	NULL	p.E470K	ENST00000358715.3	37	c.1408	CCDS4362.1	5	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546191	0.86022	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95	5.54	5.54	0.83059	.	0.276499	0.40728	N	0.001034	T	0.31231	0.0790	M	0.71581	2.175	0.43852	D	0.996449	D;D;D;D	0.65815	0.993;0.995;0.989;0.995	P;P;D;D	0.64144	0.84;0.894;0.91;0.922	T	0.00235	-1.1892	10	0.52906	T	0.07	-22.2482	16.7937	0.85596	0.0:0.0:1.0:0.0	.	383;470;454;469	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	K	355;454;470;446;383;469	ENSP00000400527:E355K;ENSP00000185942:E454K;ENSP00000377492:E470K;ENSP00000402673:E383K;ENSP00000351554:E469K	ENSP00000185942:E454K	E	+	1	0	HMMR	162842248	1.000000	0.71417	0.923000	0.36655	0.569000	0.35902	2.872000	0.48467	2.880000	0.98712	0.650000	0.86243	GAG	HMMR	-	NULL		0.358	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	G	NM_012484		162909670	+1	no_errors	ENST00000393915	ensembl	human	known	70_37	missense	SNP	0.881	A
HNF1B	6928	genome.wustl.edu	37	17	36104746	36104746	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:36104746C>G	ENST00000225893.4	-	1	491	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	HNF1B_ENST00000561193.1_Missense_Mutation_p.E44Q|RP11-115K3.1_ENST00000558143.1_RNA|HNF1B_ENST00000427275.2_Missense_Mutation_p.E44Q|HNF1B_ENST00000560016.1_Missense_Mutation_p.E44Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	44					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|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)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGCAGCGTCTCCAGCTTCACC	0.667																																					Colon(71;102 1179 9001 27917 43397)												0													47.0	51.0	50.0					17																	36104746		2203	4300	6503	SO:0001583	missense	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.130G>C	17.37:g.36104746C>G	ENSP00000225893:p.Glu44Gln		B4DKM3|E0YMJ9	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain	p.E44Q	ENST00000225893.4	37	c.130	CCDS11324.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140141	0.77775	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593	D;D	0.98493	-4.96;-4.96	5.07	4.1	0.47936	Hepatocyte nuclear factor 1, N-terminal (1);	0.095583	0.64402	D	0.000001	D	0.97464	0.9170	L	0.39397	1.21	0.51767	D	0.999934	D;P	0.54397	0.966;0.944	P;P	0.61592	0.891;0.724	D	0.95870	0.8890	10	0.19147	T	0.46	-1.7788	12.4565	0.55708	0.0:0.92:0.0:0.08	.	44;44	E0YMJ6;P35680	.;HNF1B_HUMAN	Q	44	ENSP00000225893:E44Q;ENSP00000412212:E44Q	ENSP00000225893:E44Q	E	-	1	0	HNF1B	33178859	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.402000	0.79972	1.354000	0.45846	0.561000	0.74099	GAG	HNF1B	-	pfam_HNF-1_N		0.667	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	HGNC	protein_coding	OTTHUMT00000256807.3	C	NM_000458		36104746	-1	no_errors	ENST00000225893	ensembl	human	known	70_37	missense	SNP	1.000	G
HNRNPR	10236	genome.wustl.edu	37	1	23636896	23636896	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:23636896G>A	ENST00000374612.1	-	0	2076				HNRNPR_ENST00000374616.3_3'UTR|HNRNPR_ENST00000606561.1_3'UTR|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000426846.2_3'UTR|HNRNPR_ENST00000302271.6_3'UTR|HNRNPR_ENST00000478691.1_3'UTR|HNRNPR_ENST00000427764.2_3'UTR	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GAAGAATGTAGATCTAGAGCC	0.353																																																	0													105.0	108.0	107.0					1																	23636896		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.*51C>T	1.37:g.23636896G>A			Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	RNA	SNP	-	NULL	ENST00000374612.1	37	NULL	CCDS232.1	1																																																																																			HNRNPR	-	-		0.353	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	G	NM_005826		23636896	-1	no_errors	ENST00000476660	ensembl	human	known	70_37	rna	SNP	1.000	A
HOXA2	3199	genome.wustl.edu	37	7	27141772	27141772	+	Silent	SNP	G	G	A	rs570261651		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:27141772G>A	ENST00000222718.5	-	1	658	c.348C>T	c.(346-348)gcC>gcT	p.A116A	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	116					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						cggcggtggcggcggcggcgg	0.706																																																	0													4.0	5.0	5.0					7																	27141772		1489	3147	4636	SO:0001819	synonymous_variant	3199				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.348C>T	7.37:g.27141772G>A			A1L4K3|B2RMW3	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.A116	ENST00000222718.5	37	c.348	CCDS5403.1	7																																																																																			HOXA2	-	NULL		0.706	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA2	HGNC	protein_coding	OTTHUMT00000358508.2	G			27141772	-1	no_errors	ENST00000222718	ensembl	human	known	70_37	silent	SNP	0.943	A
HOXA6	3203	genome.wustl.edu	37	7	27185519	27185519	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:27185519G>A	ENST00000222728.3	-	2	484	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'UTR	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	154					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CGGCGCCCATGGCTCCCATAC	0.657																																																	0													74.0	67.0	70.0					7																	27185519		2203	4300	6503	SO:0001583	missense	3203				CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.460C>T	7.37:g.27185519G>A	ENSP00000222728:p.His154Tyr		A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.H154Y	ENST00000222728.3	37	c.460	CCDS5407.1	7	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247356	0.59103	.	.	ENSG00000106006	ENST00000222728	D	0.95656	-3.77	5.6	5.6	0.85130	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.258207	0.38663	N	0.001610	D	0.93710	0.7990	M	0.67397	2.05	0.40241	D	0.977951	P	0.49185	0.92	B	0.34242	0.178	D	0.94878	0.8036	10	0.72032	D	0.01	.	19.2167	0.93781	0.0:0.0:1.0:0.0	.	154	P31267	HXA6_HUMAN	Y	154	ENSP00000222728:H154Y	ENSP00000222728:H154Y	H	-	1	0	HOXA6	27152044	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.884000	0.56175	2.627000	0.88993	0.561000	0.74099	CAT	HOXA6	-	superfamily_Homeodomain-like,pfscan_Homeodomain		0.657	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA6	HGNC	protein_coding	OTTHUMT00000358697.1	G			27185519	-1	no_errors	ENST00000222728	ensembl	human	known	70_37	missense	SNP	1.000	A
HPS5	11234	genome.wustl.edu	37	11	18309092	18309092	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:18309092C>T	ENST00000349215.3	-	18	2984	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	HPS5_ENST00000438420.2_Missense_Mutation_p.E789K|HPS5_ENST00000537258.1_5'Flank|HPS5_ENST00000396253.3_Missense_Mutation_p.E789K|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	903					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CGCTGATCTTCAGGCCTTGAT	0.413									Hermansky-Pudlak syndrome																																								0													85.0	83.0	84.0					11																	18309092		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2707G>A	11.37:g.18309092C>T	ENSP00000265967:p.Glu903Lys		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.E903K	ENST00000349215.3	37	c.2707	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019072	0.93462	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000544218	T;T;T	0.57907	0.37;0.37;0.38	4.95	4.95	0.65309	.	0.159280	0.56097	D	0.000032	T	0.68869	0.3048	M	0.63843	1.955	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	T	0.71155	-0.4675	10	0.59425	D	0.04	.	18.3641	0.90385	0.0:1.0:0.0:0.0	.	903	Q9UPZ3	HPS5_HUMAN	K	789;789;903;89	ENSP00000379552:E789K;ENSP00000399590:E789K;ENSP00000265967:E903K	ENSP00000265967:E903K	E	-	1	0	HPS5	18265668	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.325000	0.72901	2.574000	0.86865	0.563000	0.77884	GAA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.413	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	C	NM_181507		18309092	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	1.000	T
HRC	3270	genome.wustl.edu	37	19	49656892	49656892	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:49656892C>T	ENST00000252825.4	-	1	1789	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	HRC_ENST00000595625.1_Missense_Mutation_p.E535K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	535					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcctcttcttcctcctcctGG	0.597																																					Melanoma(37;75 1097 24567 25669 30645)												0													63.0	37.0	46.0					19																	49656892		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1603G>A	19.37:g.49656892C>T	ENSP00000252825:p.Glu535Lys		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.E535K	ENST00000252825.4	37	c.1603	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420223	0.25552	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.47869	0.83	3.29	3.29	0.37713	.	.	.	.	.	T	0.40448	0.1117	L	0.43923	1.385	0.22017	N	0.999419	P	0.51057	0.941	B	0.42916	0.402	T	0.17258	-1.0375	9	0.34782	T	0.22	.	10.7552	0.46232	0.0:1.0:0.0:0.0	.	535	P23327	SRCH_HUMAN	K	535;234	ENSP00000252825:E535K	ENSP00000252825:E535K	E	-	1	0	HRC	54348704	0.274000	0.24191	0.975000	0.42487	0.212000	0.24457	0.900000	0.28431	1.799000	0.52666	0.462000	0.41574	GAA	HRC	-	NULL		0.597	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49656892	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.657	T
HSD17B13	345275	genome.wustl.edu	37	4	88231402	88231402	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:88231402G>A	ENST00000328546.4	-	6	869	c.805C>T	c.(805-807)Cta>Tta	p.L269L	HSD17B13_ENST00000302219.6_Silent_p.L233L	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	269						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TACTTCTGTAGTCTCAGAAAG	0.333																																																	0													116.0	116.0	116.0					4																	88231402		2202	4300	6502	SO:0001819	synonymous_variant	345275				CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.805C>T	4.37:g.88231402G>A			A8K9R9|Q2M1L5|Q86W22|Q86W23	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L269	ENST00000328546.4	37	c.805	CCDS3618.1	4																																																																																			HSD17B13	-	NULL		0.333	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B13	HGNC	protein_coding	OTTHUMT00000253052.1	G	NM_178135		88231402	-1	no_errors	ENST00000328546	ensembl	human	known	70_37	silent	SNP	0.000	A
HSPA4	3308	genome.wustl.edu	37	5	132409732	132409732	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:132409732G>A	ENST00000304858.2	+	6	866	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	193					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCCTTAGAAGAGAAACCAAG	0.313																																					Colon(114;1299 1588 6063 12302 48757)												0													75.0	73.0	74.0					5																	132409732		2203	4298	6501	SO:0001583	missense	3308			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.577G>A	5.37:g.132409732G>A	ENSP00000302961:p.Glu193Lys		O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E193K	ENST00000304858.2	37	c.577	CCDS4166.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.584549	0.96578	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.01359	4.98	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	M	0.79258	2.445	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.00577	-1.1662	10	0.51188	T	0.08	-21.267	20.0529	0.97634	0.0:0.0:1.0:0.0	.	193	P34932	HSP74_HUMAN	K	193	ENSP00000302961:E193K	ENSP00000302961:E193K	E	+	1	0	HSPA4	132437631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.363000	0.97131	2.814000	0.96858	0.591000	0.81541	GAG	HSPA4	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.313	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4	HGNC	protein_coding	OTTHUMT00000251011.1	G	NM_002154, NM_198431		132409732	+1	no_errors	ENST00000304858	ensembl	human	known	70_37	missense	SNP	1.000	A
HSPG2	3339	genome.wustl.edu	37	1	22174210	22174210	+	Missense_Mutation	SNP	C	C	T	rs549490616		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:22174210C>T	ENST00000374695.3	-	61	8076	c.7997G>A	c.(7996-7998)cGt>cAt	p.R2666H	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2666	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R2666H(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCTGCCCCCACGCTTGTACCA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		18896	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	prostate(1)											44.0	41.0	42.0					1																	22174210		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7997G>A	1.37:g.22174210C>T	ENSP00000363827:p.Arg2666His		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.R2666H	ENST00000374695.3	37	c.7997	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369057	0.82463	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.15372	2.43;2.43	5.13	5.13	0.70059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32533	N	0.005964	T	0.40862	0.1134	M	0.73372	2.23	0.36951	D	0.892877	D;D	0.89917	0.992;1.0	D;D	0.77557	0.91;0.99	T	0.39781	-0.9597	10	0.34782	T	0.22	.	16.1066	0.81225	0.0:1.0:0.0:0.0	.	606;2666	Q59EG0;P98160	.;PGBM_HUMAN	H	2666;81	ENSP00000363827:R2666H;ENSP00000396310:R81H	ENSP00000363827:R2666H	R	-	2	0	HSPG2	22046797	0.938000	0.31826	1.000000	0.80357	0.950000	0.60333	1.817000	0.39002	2.389000	0.81357	0.655000	0.94253	CGT	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22174210	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	1.000	T
HSPG2	3339	genome.wustl.edu	37	1	22201113	22201113	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:22201113C>T	ENST00000374695.3	-	27	3603	c.3524G>A	c.(3523-3525)tGc>tAc	p.C1175Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1175	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACTTACCTGGCAGGCACCTGT	0.642																																																	0													31.0	31.0	31.0					1																	22201113		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3524G>A	1.37:g.22201113C>T	ENSP00000363827:p.Cys1175Tyr		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.C1175Y	ENST00000374695.3	37	c.3524	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101135	0.56183	.	.	ENSG00000142798	ENST00000374695	D	0.94330	-3.4	4.92	4.92	0.64577	EGF-like, laminin (4);	0.000000	0.41396	D	0.000893	D	0.98024	0.9349	H	0.98256	4.185	0.80722	D	1	D	0.67145	0.996	D	0.83275	0.996	D	0.99552	1.0966	10	0.87932	D	0	.	15.606	0.76672	0.0:1.0:0.0:0.0	.	1175	P98160	PGBM_HUMAN	Y	1175	ENSP00000363827:C1175Y	ENSP00000363827:C1175Y	C	-	2	0	HSPG2	22073700	1.000000	0.71417	0.999000	0.59377	0.221000	0.24807	7.273000	0.78527	2.273000	0.75805	0.400000	0.26472	TGC	HSPG2	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22201113	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	1.000	T
HSPG2	3339	genome.wustl.edu	37	1	22201525	22201525	+	Intron	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:22201525G>C	ENST00000374695.3	-	26	3382					NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	gcgtgaataggagtgctggct	0.642																																																	0													25.0	21.0	22.0					1																	22201525		2189	4286	6475	SO:0001627	intron_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3303-30C>G	1.37:g.22201525G>C			Q16287|Q5SZI3|Q9H3V5	RNA	SNP	-	NULL	ENST00000374695.3	37	NULL	CCDS30625.1	1																																																																																			HSPG2	-	-		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22201525	-1	no_errors	ENST00000498495	ensembl	human	known	70_37	rna	SNP	0.004	C
HSPB11	51668	genome.wustl.edu	37	1	54387427	54387427	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:54387427G>C	ENST00000194214.5	-	6	721	c.332C>G	c.(331-333)tCc>tGc	p.S111C	HSPB11_ENST00000489675.1_5'UTR|HSPB11_ENST00000371378.2_Intron	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	111					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						GTAAGTAGCGGAGCCATCATG	0.378																																																	0													103.0	94.0	97.0					1																	54387427		1876	4117	5993	SO:0001583	missense	51668			AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.332C>G	1.37:g.54387427G>C	ENSP00000194214:p.Ser111Cys		A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like	p.S111C	ENST00000194214.5	37	c.332	CCDS41341.1	1	.	.	.	.	.	.	.	.	.	.	G	3.699	-0.061897	0.07317	.	.	ENSG00000081870	ENST00000194214;ENST00000371378	T;T	0.81247	-1.47;-1.47	5.46	1.77	0.24775	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.744864	0.12988	N	0.422717	T	0.71804	0.3383	N	0.24115	0.695	0.09310	N	0.999999	B	0.33448	0.412	B	0.39617	0.305	T	0.60403	-0.7270	10	0.42905	T	0.14	-21.0273	11.5509	0.50721	0.0:0.0:0.5408:0.4592	.	111	Q9Y547	HSB11_HUMAN	C	111	ENSP00000194214:S111C;ENSP00000360429:S111C	ENSP00000194214:S111C	S	-	2	0	HSPB11	54160015	0.089000	0.21612	0.063000	0.19743	0.055000	0.15305	0.340000	0.19892	0.048000	0.15891	-0.274000	0.10170	TCC	HSPB11	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like		0.378	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB11	HGNC	protein_coding	OTTHUMT00000023114.1	G	NM_016126		54387427	-1	no_errors	ENST00000194214	ensembl	human	known	70_37	missense	SNP	0.088	C
HTR3D	200909	genome.wustl.edu	37	3	183756393	183756393	+	Silent	SNP	C	C	T	rs267599708		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:183756393C>T	ENST00000382489.3	+	7	1116	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	HTR3D_ENST00000334128.2_Silent_p.L197L|HTR3D_ENST00000453435.1_Silent_p.L151L|HTR3D_ENST00000428798.2_Silent_p.L322L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	372					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	GCCCGGGTCTCACCCCCACCC	0.642																																																	0													24.0	28.0	27.0					3																	183756393		2202	4299	6501	SO:0001819	synonymous_variant	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1116C>T	3.37:g.183756393C>T			C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.L372	ENST00000382489.3	37	c.1116	CCDS54685.1	3																																																																																			HTR3D	-	superfamily_Neurotrans-gated_channel_TM		0.642	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	C	NM_182537		183756393	+1	no_errors	ENST00000382489	ensembl	human	known	70_37	silent	SNP	0.004	T
HYOU1	10525	genome.wustl.edu	37	11	118920534	118920534	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:118920534C>G	ENST00000404233.3	-	15	1805	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	HYOU1_ENST00000529972.1_Missense_Mutation_p.E561Q|HYOU1_ENST00000525859.1_Missense_Mutation_p.E561Q|HYOU1_ENST00000543287.1_Missense_Mutation_p.E474Q	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	561					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACCAGTGTCTCAAATACAGAC	0.433																																																	0													268.0	245.0	253.0					11																	118920534		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1681G>C	11.37:g.118920534C>G	ENSP00000384144:p.Glu561Gln		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E561Q	ENST00000404233.3	37	c.1681	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649429	0.87958	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.02812	5.45;5.45;5.45;4.15;5.45	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.18087	0.0434	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.00121	-1.2029	10	0.72032	D	0.01	-34.6025	17.918	0.88958	0.0:1.0:0.0:0.0	.	552;605;561;561	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	Q	561;552;561;561;410;561;604;474;561	ENSP00000384144:E561Q;ENSP00000437313:E561Q;ENSP00000433397:E561Q;ENSP00000442727:E474Q;ENSP00000431874:E561Q	ENSP00000278752:E552Q	E	-	1	0	HYOU1	118425744	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.507000	0.73717	2.693000	0.91896	0.655000	0.94253	GAG	HYOU1	-	pfam_Hsp_70_fam		0.433	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	C	NM_006389		118920534	-1	no_errors	ENST00000404233	ensembl	human	known	70_37	missense	SNP	1.000	G
HYOU1	10525	genome.wustl.edu	37	11	118924883	118924883	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:118924883C>T	ENST00000404233.3	-	8	868	c.744G>A	c.(742-744)gtG>gtA	p.V248V	HYOU1_ENST00000529972.1_Silent_p.V248V|HYOU1_ENST00000525859.1_Silent_p.V248V|HYOU1_ENST00000543287.1_Silent_p.V161V	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	248					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCTTAGTCTTCACCATCTGGT	0.517																																																	0													83.0	71.0	75.0					11																	118924883		2200	4295	6495	SO:0001819	synonymous_variant	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.744G>A	11.37:g.118924883C>T			A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.V248	ENST00000404233.3	37	c.744	CCDS8408.1	11																																																																																			HYOU1	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.517	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	C	NM_006389		118924883	-1	no_errors	ENST00000404233	ensembl	human	known	70_37	silent	SNP	1.000	T
IDE	3416	genome.wustl.edu	37	10	94264597	94264597	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:94264597C>G	ENST00000265986.6	-	11	1440	c.1384G>C	c.(1384-1386)Gac>Cac	p.D462H		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	462					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TCTATTAAGTCAGGTCTAAAT	0.308																																																	0													53.0	52.0	52.0					10																	94264597		2203	4299	6502	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1384G>C	10.37:g.94264597C>G	ENSP00000265986:p.Asp462His		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.D462H	ENST00000265986.6	37	c.1384	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643799	0.87859	.	.	ENSG00000119912	ENST00000265986	T	0.33216	1.42	5.04	5.04	0.67666	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.63488	-0.6626	10	0.72032	D	0.01	-17.4179	18.7333	0.91744	0.0:1.0:0.0:0.0	.	462	P14735	IDE_HUMAN	H	462	ENSP00000265986:D462H	ENSP00000265986:D462H	D	-	1	0	IDE	94254577	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	5.437000	0.66544	2.505000	0.84491	0.460000	0.39030	GAC	IDE	-	superfamily_Metalloenz_metal-bd		0.308	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	C	NM_004969		94264597	-1	no_errors	ENST00000265986	ensembl	human	known	70_37	missense	SNP	1.000	G
IDI2	91734	genome.wustl.edu	37	10	1065765	1065765	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:1065765C>G	ENST00000277517.1	-	5	440	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|GTPBP4_ENST00000360803.4_3'UTR|IDI2-AS1_ENST00000420381.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	126	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		ACAATGTCCTCTGGAGAAATC	0.353																																																	0													106.0	95.0	99.0					10																	1065765		2203	4300	6503	SO:0001583	missense	91734			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.376G>C	10.37:g.1065765C>G	ENSP00000277517:p.Glu126Gln			Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.E126Q	ENST00000277517.1	37	c.376	CCDS7055.1	10	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236412	0.39498	.	.	ENSG00000148377	ENST00000277517	T	0.08984	3.03	3.55	-1.34	0.09143	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.301257	0.34531	N	0.003888	T	0.06142	0.0159	L	0.41573	1.285	0.09310	N	1	P	0.46277	0.875	B	0.41412	0.356	T	0.27536	-1.0071	10	0.59425	D	0.04	-8.5091	4.7838	0.13215	0.0:0.5201:0.1956:0.2843	.	126	Q9BXS1	IDI2_HUMAN	Q	126	ENSP00000277517:E126Q	ENSP00000277517:E126Q	E	-	1	0	IDI2	1055765	0.367000	0.25023	0.000000	0.03702	0.541000	0.35023	0.912000	0.28597	-0.405000	0.07599	0.185000	0.17295	GAG	IDI2	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1		0.353	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI2	HGNC	protein_coding	OTTHUMT00000046411.1	C	NM_033261		1065765	-1	no_errors	ENST00000277517	ensembl	human	known	70_37	missense	SNP	0.021	G
IDI1	3422	genome.wustl.edu	37	10	1087432	1087432	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:1087432C>G	ENST00000381344.3	-	5	716	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI1_ENST00000491735.1_5'UTR	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	127	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TAATTAATTTCTTCTGGAGGA	0.318																																																	0													33.0	32.0	32.0					10																	1087432		2198	4297	6495	SO:0001583	missense	3422			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.550G>C	10.37:g.1087432C>G	ENSP00000370748:p.Glu184Gln		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.E184Q	ENST00000381344.3	37	c.550	CCDS7056.1	10	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516333	0.64634	.	.	ENSG00000067064	ENST00000381344	T	0.07800	3.16	5.73	5.73	0.89815	.	0.129496	0.64402	D	0.000001	T	0.14743	0.0356	L	0.28115	0.83	0.80722	D	1	D	0.62365	0.991	P	0.54238	0.746	T	0.01480	-1.1344	10	0.37606	T	0.19	-2.7229	20.27	0.98469	0.0:1.0:0.0:0.0	.	184	Q13907-2	.	Q	184	ENSP00000370748:E184Q	ENSP00000370748:E184Q	E	-	1	0	IDI1	1077432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.104000	0.77024	2.854000	0.98071	0.655000	0.94253	GAA	IDI1	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1		0.318	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI1	HGNC	protein_coding	OTTHUMT00000046409.2	C	NM_004508		1087432	-1	no_errors	ENST00000381344	ensembl	human	known	70_37	missense	SNP	1.000	G
IDE	3416	genome.wustl.edu	37	10	94269864	94269864	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:94269864G>T	ENST00000265986.6	-	6	896	c.840C>A	c.(838-840)aaC>aaA	p.N280K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	280					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GAACATTTTTGTTCTCTACTT	0.318																																																	0													131.0	137.0	135.0					10																	94269864		2203	4299	6502	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.840C>A	10.37:g.94269864G>T	ENSP00000265986:p.Asn280Lys		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.N280K	ENST00000265986.6	37	c.840	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025889	0.75390	.	.	ENSG00000119912	ENST00000265986	T	0.33654	1.4	5.6	3.56	0.40772	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	M	0.83384	2.64	0.80722	D	1	D	0.67145	0.996	P	0.60886	0.88	T	0.57063	-0.7875	10	0.54805	T	0.06	-18.4264	9.8383	0.40982	0.2152:0.0:0.7848:0.0	.	280	P14735	IDE_HUMAN	K	280	ENSP00000265986:N280K	ENSP00000265986:N280K	N	-	3	2	IDE	94259844	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.993000	0.49425	0.535000	0.28714	0.563000	0.77884	AAC	IDE	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.318	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	G	NM_004969		94269864	-1	no_errors	ENST00000265986	ensembl	human	known	70_37	missense	SNP	1.000	T
IFI16	3428	genome.wustl.edu	37	1	159002419	159002419	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:159002419G>A	ENST00000295809.7	+	7	1522	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	IFI16_ENST00000359709.3_Missense_Mutation_p.E367K|IFI16_ENST00000368131.4_Missense_Mutation_p.E423K|IFI16_ENST00000368132.3_Missense_Mutation_p.E423K|IFI16_ENST00000448393.2_Missense_Mutation_p.E423K|IFI16_ENST00000430894.2_Missense_Mutation_p.E371K|IFI16_ENST00000340979.6_Missense_Mutation_p.E423K			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	423					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AACCTTCCCTGAGAGCCATCT	0.517																																																	0													139.0	129.0	132.0					1																	159002419		2203	4300	6503	SO:0001583	missense	3428			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1267G>A	1.37:g.159002419G>A	ENSP00000295809:p.Glu423Lys		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.E423K	ENST00000295809.7	37	c.1267		1	.	.	.	.	.	.	.	.	.	.	G	8.151	0.787447	0.16258	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.06218	3.34;3.33;3.45;3.45;3.47	2.15	-1.09	0.09904	.	.	.	.	.	T	0.01835	0.0058	L	0.39898	1.24	0.09310	N	1	B;B;P	0.46220	0.053;0.065;0.874	B;B;B	0.44163	0.021;0.04;0.443	T	0.39522	-0.9610	9	0.38643	T	0.18	.	2.8264	0.05486	0.327:0.2472:0.4258:0.0	.	371;423;423	E7EPR3;Q16666-3;Q16666-2	.;.;.	K	423;423;423;423;371	ENSP00000295809:E423K;ENSP00000342741:E423K;ENSP00000357113:E423K;ENSP00000357114:E423K;ENSP00000394935:E371K	ENSP00000295809:E423K	E	+	1	0	IFI16	157269043	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.780000	0.04654	-0.285000	0.09089	-0.502000	0.04539	GAG	IFI16	-	NULL		0.517	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	G	NM_005531		159002419	+1	no_errors	ENST00000295809	ensembl	human	known	70_37	missense	SNP	0.000	A
IFT81	28981	genome.wustl.edu	37	12	110630459	110630459	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:110630459C>T	ENST00000242591.5	+	14	2011	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	IFT81_ENST00000552912.1_Missense_Mutation_p.S502L	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	502					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						GAAAAGAAGTCAGCTCTTGCC	0.269																																																	0													83.0	80.0	81.0					12																	110630459		1794	4060	5854	SO:0001583	missense	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1505C>T	12.37:g.110630459C>T	ENSP00000242591:p.Ser502Leu		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.S502L	ENST00000242591.5	37	c.1505	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000858	0.93227	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.14022	2.54;2.54	5.93	5.93	0.95920	.	0.117165	0.64402	D	0.000011	T	0.24084	0.0583	M	0.68317	2.08	0.80722	D	1	P	0.35944	0.529	B	0.39840	0.311	T	0.00561	-1.1670	10	0.40728	T	0.16	-9.6333	20.3368	0.98748	0.0:1.0:0.0:0.0	.	502	Q8WYA0	IFT81_HUMAN	L	502	ENSP00000449718:S502L;ENSP00000242591:S502L	ENSP00000242591:S502L	S	+	2	0	IFT81	109114842	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.169000	0.77578	2.805000	0.96524	0.655000	0.94253	TCA	IFT81	-	NULL		0.269	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	C	NM_014055		110630459	+1	no_errors	ENST00000242591	ensembl	human	known	70_37	missense	SNP	1.000	T
IGF2BP3	10643	genome.wustl.edu	37	7	23387308	23387308	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:23387308C>T	ENST00000258729.3	-	7	1085	c.729G>A	c.(727-729)tcG>tcA	p.S243S		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	243	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GGATAGTAATCGACTTCTCAG	0.453																																																	0													107.0	98.0	101.0					7																	23387308		2203	4300	6503	SO:0001819	synonymous_variant	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.729G>A	7.37:g.23387308C>T			A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.S243	ENST00000258729.3	37	c.729	CCDS5382.1	7																																																																																			IGF2BP3	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.453	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	HGNC	protein_coding	OTTHUMT00000250243.2	C	NM_006547		23387308	-1	no_errors	ENST00000258729	ensembl	human	known	70_37	silent	SNP	0.031	T
IGSF10	285313	genome.wustl.edu	37	3	151155959	151155959	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:151155959C>T	ENST00000282466.3	-	6	6389	c.6390G>A	c.(6388-6390)atG>atA	p.M2130I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2130	Ig-like C2-type 7.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGGACCTTCATTTCATCTT	0.443																																																	0													85.0	77.0	80.0					3																	151155959		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6390G>A	3.37:g.151155959C>T	ENSP00000282466:p.Met2130Ile		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.M2130I	ENST00000282466.3	37	c.6390	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658486	0.67586	.	.	ENSG00000152580	ENST00000282466	T	0.66280	-0.2	5.86	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000017	T	0.66346	0.2780	N	0.20357	0.565	0.58432	D	0.999997	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.995	T	0.65109	-0.6248	10	0.27082	T	0.32	.	16.1192	0.81329	0.1347:0.8653:0.0:0.0	.	2130;157	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	I	2130	ENSP00000282466:M2130I	ENSP00000282466:M2130I	M	-	3	0	IGSF10	152638649	1.000000	0.71417	0.998000	0.56505	0.688000	0.40055	7.440000	0.80464	1.419000	0.47118	0.655000	0.94253	ATG	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.443	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151155959	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	1.000	T
IGSF9	57549	genome.wustl.edu	37	1	159899721	159899721	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:159899721G>A	ENST00000368094.1	-	16	2306	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.F687F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	703	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTCGCTGACGAAGCTGCCCG	0.672																																																	0													29.0	28.0	29.0					1																	159899721		2190	4295	6485	SO:0001819	synonymous_variant	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2109C>T	1.37:g.159899721G>A				Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F703	ENST00000368094.1	37	c.2109	CCDS44254.1	1																																																																																			IGSF9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.672	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	G	NM_020789		159899721	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	silent	SNP	0.926	A
IGSF9B	22997	genome.wustl.edu	37	11	133790132	133790132	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:133790132G>A	ENST00000321016.8	-	18	3718	c.3488C>T	c.(3487-3489)aCa>aTa	p.T1163I	IGSF9B_ENST00000533871.2_Missense_Mutation_p.T1163I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1163	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CAGGCCAAATGTGCTGGGGCC	0.682																																																	0													30.0	35.0	33.0					11																	133790132		1909	4106	6015	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3488C>T	11.37:g.133790132G>A	ENSP00000317980:p.Thr1163Ile		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T1163I	ENST00000321016.8	37	c.3488		11	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997453	0.54147	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.71222	-0.23;-0.55	5.08	5.08	0.68730	.	0.303959	0.23654	N	0.045894	T	0.54191	0.1843	N	0.19112	0.55	0.36945	D	0.892581	P	0.41313	0.745	B	0.31614	0.133	T	0.68296	-0.5446	10	0.72032	D	0.01	.	16.2371	0.82381	0.0:0.0:1.0:0.0	.	1163	Q9UPX0	TUTLB_HUMAN	I	1163;1005	ENSP00000317980:T1163I;ENSP00000436552:T1005I	ENSP00000317980:T1163I	T	-	2	0	IGSF9B	133295342	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	7.175000	0.77632	2.358000	0.79984	0.455000	0.32223	ACA	IGSF9B	-	NULL		0.682	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		G	XM_290502		133790132	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	missense	SNP	1.000	A
IKBIP	121457	genome.wustl.edu	37	12	99020541	99020541	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:99020541C>G	ENST00000342502.2	-	2	709				IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.E101Q	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCAGTAGACTCAAGCTGCATT	0.388																																																	0													71.0	69.0	70.0					12																	99020541		2203	4299	6502	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7532G>C	12.37:g.99020541C>G			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.E101Q	ENST00000342502.2	37	c.301	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152572	0.38021	.	.	ENSG00000166130	ENST00000299157	T	0.53206	0.63	5.82	5.82	0.92795	.	0.686003	0.15243	N	0.272774	T	0.46541	0.1398	.	.	.	0.80722	D	1	P	0.50617	0.937	P	0.46850	0.529	T	0.17684	-1.0361	9	0.27082	T	0.32	-13.8107	13.3203	0.60428	0.0:0.928:0.0:0.072	.	101	Q70UQ0-4	.	Q	101	ENSP00000299157:E101Q	ENSP00000299157:E101Q	E	-	1	0	IKBIP	97544672	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.915000	0.63355	2.748000	0.94277	0.655000	0.94253	GAG	IKBIP	-	NULL		0.388	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99020541	-1	no_errors	ENST00000299157	ensembl	human	known	70_37	missense	SNP	1.000	G
IL12B	3593	genome.wustl.edu	37	5	158750066	158750066	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:158750066C>G	ENST00000231228.2	-	3	815	c.360G>C	c.(358-360)caG>caC	p.Q120H		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	120					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATTACCTTTCTGGTCCTTTA	0.393																																																	0													62.0	65.0	64.0					5																	158750066		2203	4300	6503	SO:0001583	missense	3593			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.360G>C	5.37:g.158750066C>G	ENSP00000231228:p.Gln120His			Missense_Mutation	SNP	pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,pirsf_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_IL_12_beta	p.Q120H	ENST00000231228.2	37	c.360	CCDS4346.1	5	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454492	0.26161	.	.	ENSG00000113302	ENST00000231228	T	0.18174	2.23	5.33	4.45	0.53987	Fibronectin, type III (1);	0.959802	0.08768	N	0.896740	T	0.19208	0.0461	M	0.72118	2.19	0.31997	N	0.603912	P	0.48589	0.912	B	0.38500	0.275	T	0.07252	-1.0782	10	0.15952	T	0.53	-4.9137	10.2963	0.43627	0.0:0.9061:0.0:0.0939	.	120	P29460	IL12B_HUMAN	H	120	ENSP00000231228:Q120H	ENSP00000231228:Q120H	Q	-	3	2	IL12B	158682644	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.583000	0.23849	2.490000	0.84030	0.655000	0.94253	CAG	IL12B	-	superfamily_Fibronectin_type3,pirsf_IL_12_beta		0.393	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12B	HGNC	protein_coding	OTTHUMT00000252652.2	C	NM_002187		158750066	-1	no_errors	ENST00000231228	ensembl	human	known	70_37	missense	SNP	1.000	G
IL17A	3605	genome.wustl.edu	37	6	52053995	52053995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:52053995G>T	ENST00000340057.1	+	3	418	c.373G>T	c.(373-375)Gag>Tag	p.E125*		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	125					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.E125*(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCTGCGCAGGGAGCCTCCACA	0.597																																																	1	Substitution - Nonsense(1)	lung(1)											94.0	82.0	86.0					6																	52053995		2203	4300	6503	SO:0001587	stop_gained	3605			U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.373G>T	6.37:g.52053995G>T	ENSP00000344192:p.Glu125*		Q5T2P0	Nonsense_Mutation	SNP	pfam_Interleukin-17,prints_Interleukin-17_chordata	p.E125*	ENST00000340057.1	37	c.373	CCDS4937.1	6	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619880	0.66787	.	.	ENSG00000112115	ENST00000340057	.	.	.	5.46	4.58	0.56647	.	0.213843	0.43579	D	0.000556	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-14.8508	16.2887	0.82737	0.0:0.1327:0.8673:0.0	.	.	.	.	X	125	.	ENSP00000344192:E125X	E	+	1	0	IL17A	52161954	1.000000	0.71417	0.027000	0.17364	0.438000	0.31896	2.366000	0.44204	1.287000	0.44583	0.609000	0.83330	GAG	IL17A	-	pfam_Interleukin-17		0.597	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17A	HGNC	protein_coding	OTTHUMT00000040892.1	G	NM_002190		52053995	+1	no_errors	ENST00000340057	ensembl	human	known	70_37	nonsense	SNP	0.365	T
IL27RA	9466	genome.wustl.edu	37	19	14160003	14160003	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:14160003G>A	ENST00000263379.2	+	10	1404	c.1279G>A	c.(1279-1281)Gat>Aat	p.D427N		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	427	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GCGACTCCAAGATGCCCCTCC	0.647											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(164;1849 1896 4443 37792 47834)												0													45.0	47.0	47.0					19																	14160003		2203	4300	6503	SO:0001583	missense	9466			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1279G>A	19.37:g.14160003G>A	ENSP00000263379:p.Asp427Asn	693	A0N0L1|O60624	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D427N	ENST00000263379.2	37	c.1279	CCDS12303.1	19	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901910	0.33535	.	.	ENSG00000104998	ENST00000263379	T	0.52983	0.64	4.38	3.31	0.37934	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000481	T	0.26340	0.0643	L	0.29908	0.895	0.32558	N	0.531441	P	0.37330	0.59	B	0.30251	0.113	T	0.23619	-1.0183	10	0.12430	T	0.62	-25.4419	8.4493	0.32860	0.111:0.0:0.889:0.0	.	427	Q6UWB1	I27RA_HUMAN	N	427	ENSP00000263379:D427N	ENSP00000263379:D427N	D	+	1	0	IL27RA	14021003	0.987000	0.35691	0.923000	0.36655	0.584000	0.36387	2.134000	0.42102	2.270000	0.75569	0.448000	0.29417	GAT	IL27RA	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	G	NM_004843		14160003	+1	no_errors	ENST00000263379	ensembl	human	known	70_37	missense	SNP	0.673	A
ILF2	3608	genome.wustl.edu	37	1	153634542	153634542	+	3'UTR	SNP	T	T	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:153634542T>C	ENST00000361891.4	-	0	1628				ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2						immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAGTTTTTCTTAGAAAAAAAA	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	3608			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.*330A>G	1.37:g.153634542T>C			A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	RNA	SNP	-	NULL	ENST00000361891.4	37	NULL	CCDS1050.1	1																																																																																			ILF2	-	-		0.323	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF2	HGNC	protein_coding	OTTHUMT00000090040.1	T	NM_004515		153634542	-1	no_errors	ENST00000480213	ensembl	human	known	70_37	rna	SNP	1.000	C
INMT	11185	genome.wustl.edu	37	7	30795311	30795311	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:30795311C>T	ENST00000013222.5	+	3	652	c.636C>T	c.(634-636)tcC>tcT	p.S212S	INMT_ENST00000409539.1_Silent_p.S211S|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	212					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GTGAATTTTCCTGCGTGGCCC	0.592																																																	0													102.0	93.0	96.0					7																	30795311		2203	4300	6503	SO:0001819	synonymous_variant	11185				CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.636C>T	7.37:g.30795311C>T			B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.S212	ENST00000013222.5	37	c.636	CCDS5430.1	7																																																																																			INMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans		0.592	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INMT	HGNC	protein_coding	OTTHUMT00000214993.3	C	NM_006774		30795311	+1	no_errors	ENST00000013222	ensembl	human	known	70_37	silent	SNP	0.426	T
INPP5D	3635	genome.wustl.edu	37	2	233944076	233944076	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:233944076C>T	ENST00000359570.5	+	2	166	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	INPP5D_ENST00000538935.1_Silent_p.L56L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	56	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)		TTACAGAATTCTGCCCAATGA	0.398																																					NSCLC(82;1215 1426 16163 20348 41018)												0													85.0	82.0	83.0					2																	233944076		1857	4104	5961	SO:0001819	synonymous_variant	3635			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.166C>T	2.37:g.233944076C>T			O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.L56	ENST00000359570.5	37	c.166		2																																																																																			INPP5D	-	pfam_SH2,smart_SH2,pfscan_SH2		0.398	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		C	NM_001017915		233944076	+1	no_errors	ENST00000359570	ensembl	human	known	70_37	silent	SNP	0.995	T
INPP5E	56623	genome.wustl.edu	37	9	139325521	139325521	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:139325521G>A	ENST00000371712.3	-	8	2000	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AAACTTGTATGATGGGAGGAA	0.617																																																	0													227.0	148.0	175.0					9																	139325521		2203	4300	6503	SO:0001583	missense	56623			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1598C>T	9.37:g.139325521G>A	ENSP00000360777:p.Ser533Leu		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.S533L	ENST00000371712.3	37	c.1598	CCDS7000.1	9	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614708	0.66672	.	.	ENSG00000148384	ENST00000371712	D	0.96522	-4.04	5.04	5.04	0.67666	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.069600	0.56097	D	0.000030	D	0.98232	0.9415	M	0.85462	2.755	0.53688	D	0.999975	D;D	0.89917	0.981;1.0	P;D	0.85130	0.813;0.997	D	0.99278	1.0895	10	0.87932	D	0	-20.5946	17.7267	0.88367	0.0:0.0:1.0:0.0	.	499;533	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	L	533	ENSP00000360777:S533L	ENSP00000360777:S533L	S	-	2	0	INPP5E	138445342	1.000000	0.71417	0.057000	0.19452	0.052000	0.14988	9.191000	0.94940	2.503000	0.84419	0.650000	0.86243	TCA	INPP5E	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.617	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5E	HGNC	protein_coding	OTTHUMT00000055058.1	G	NM_019892		139325521	-1	no_errors	ENST00000371712	ensembl	human	known	70_37	missense	SNP	0.938	A
INTS7	25896	genome.wustl.edu	37	1	212190329	212190329	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:212190329C>T	ENST00000366994.3	-	4	512	c.408G>A	c.(406-408)agG>agA	p.R136R	INTS7_ENST00000366993.3_Silent_p.R136R|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.R136R|INTS7_ENST00000440600.2_Silent_p.R87R	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	136					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GAGCATTCTTCCTCTCAGGAA	0.393																																																	0													170.0	171.0	171.0					1																	212190329		2203	4300	6503	SO:0001819	synonymous_variant	25896			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.408G>A	1.37:g.212190329C>T			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	superfamily_ARM-type_fold	p.R136	ENST00000366994.3	37	c.408	CCDS1501.1	1																																																																																			INTS7	-	superfamily_ARM-type_fold		0.393	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	C	NM_015434		212190329	-1	no_errors	ENST00000366994	ensembl	human	known	70_37	silent	SNP	1.000	T
INVS	27130	genome.wustl.edu	37	9	103054935	103054935	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:103054935G>A	ENST00000262457.2	+	14	2581	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K	INVS_ENST00000541287.1_Missense_Mutation_p.R703K|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	799					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CAAGAGCTCAGAGGAGGAAGG	0.632																																																	0													57.0	58.0	57.0					9																	103054935		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2396G>A	9.37:g.103054935G>A	ENSP00000262457:p.Arg799Lys		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.R799K	ENST00000262457.2	37	c.2396	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274565	0.23307	.	.	ENSG00000119509	ENST00000262457;ENST00000541287	T;T	0.38560	1.13;1.13	5.65	-0.91	0.10511	.	0.447134	0.26289	N	0.025227	T	0.19248	0.0462	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32824	-0.9892	10	0.02654	T	1	.	10.4738	0.44652	0.3287:0.0:0.6713:0.0	.	703;799	F5GZH2;Q9Y283	.;INVS_HUMAN	K	799;703	ENSP00000262457:R799K;ENSP00000444454:R703K	ENSP00000262457:R799K	R	+	2	0	INVS	102094756	0.995000	0.38212	0.867000	0.34043	0.994000	0.84299	0.408000	0.21065	-0.309000	0.08779	-0.269000	0.10298	AGA	INVS	-	NULL		0.632	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	G	NM_014425		103054935	+1	no_errors	ENST00000262457	ensembl	human	known	70_37	missense	SNP	0.745	A
IRF1	3659	genome.wustl.edu	37	5	131823709	131823709	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:131823709C>G	ENST00000245414.4	-	3	354	c.96G>C	c.(94-96)atG>atC	p.M32I	IRF1_ENST00000405885.2_Missense_Mutation_p.M32I|IRF1_ENST00000463784.1_Intron	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	32					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCTGGAAGATCATCTCCTCCT	0.547																																																	0													101.0	78.0	86.0					5																	131823709		2202	4300	6502	SO:0001583	missense	3659				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.96G>C	5.37:g.131823709C>G	ENSP00000245414:p.Met32Ile		Q96GG7	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.M32I	ENST00000245414.4	37	c.96	CCDS4155.1	5	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565189	0.86439	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	5.35	4.48	0.54585	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.076408	0.85682	D	0.000000	D	0.97436	0.9161	L	0.34521	1.04	0.53688	D	0.999974	P;P	0.41393	0.734;0.748	B;P	0.61275	0.297;0.886	D	0.97746	1.0211	10	0.56958	D	0.05	-17.7267	13.8496	0.63487	0.0:0.9264:0.0:0.0736	.	32;32	Q5FBX3;P10914	.;IRF1_HUMAN	I	32	ENSP00000245414:M32I;ENSP00000384406:M32I;ENSP00000405655:M32I;ENSP00000396318:M32I	ENSP00000245414:M32I	M	-	3	0	IRF1	131851608	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.214000	0.51161	1.263000	0.44181	0.655000	0.94253	ATG	IRF1	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2		0.547	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	HGNC	protein_coding	OTTHUMT00000132340.1	C	NM_002198		131823709	-1	no_errors	ENST00000245414	ensembl	human	known	70_37	missense	SNP	1.000	G
IRF6	3664	genome.wustl.edu	37	1	209961873	209961873	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:209961873G>C	ENST00000367021.3	-	9	1468	c.1296C>G	c.(1294-1296)atC>atG	p.I432M	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Missense_Mutation_p.I337M	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	432					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GCTGAGCAACGATGTTATCCT	0.557										HNSCC(57;0.16)																																							0													98.0	88.0	92.0					1																	209961873		2203	4300	6503	SO:0001583	missense	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1296C>G	1.37:g.209961873G>C	ENSP00000355988:p.Ile432Met		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.I432M	ENST00000367021.3	37	c.1296	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	G	1.648	-0.514796	0.04200	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.94793	-3.52;-3.52	5.45	-7.4	0.01397	SMAD domain-like (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.87521	0.6198	L	0.31207	0.915	0.38798	D	0.955138	B	0.33919	0.432	B	0.35353	0.201	T	0.73011	-0.4117	10	0.14656	T	0.56	.	17.2449	0.87025	0.7072:0.0:0.2928:0.0	.	432	O14896	IRF6_HUMAN	M	432;337	ENSP00000355988:I432M;ENSP00000440532:I337M	ENSP00000355988:I432M	I	-	3	3	IRF6	208028496	0.001000	0.12720	0.334000	0.25495	0.991000	0.79684	-1.777000	0.01780	-1.700000	0.01414	-0.355000	0.07637	ATC	IRF6	-	superfamily_SMAD_FHA_domain		0.557	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	HGNC	protein_coding	OTTHUMT00000088827.1	G	NM_006147		209961873	-1	no_errors	ENST00000367021	ensembl	human	known	70_37	missense	SNP	0.134	C
ITGAD	3681	genome.wustl.edu	37	16	31424553	31424553	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:31424553C>G	ENST00000389202.2	+	16	2031	c.1982C>G	c.(1981-1983)tCa>tGa	p.S661*		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	661					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGAAAAGCTCACTGGACCAG	0.607																																																	0													88.0	82.0	84.0					16																	31424553		2197	4300	6497	SO:0001587	stop_gained	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1982C>G	16.37:g.31424553C>G	ENSP00000373854:p.Ser661*		Q15575|Q15576	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S661*	ENST00000389202.2	37	c.1982	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429761	0.83776	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	.	.	.	5.24	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.8945	0.41309	0.0:0.9049:0.0:0.0951	.	.	.	.	X	677;661	.	ENSP00000373854:S661X	S	+	2	0	ITGAD	31332054	0.009000	0.17119	0.035000	0.18076	0.190000	0.23558	2.527000	0.45615	1.215000	0.43411	0.604000	0.83254	TCA	ITGAD	-	pfam_Integrin_alpha-2		0.607	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	C	NM_005353		31424553	+1	no_errors	ENST00000389202	ensembl	human	known	70_37	nonsense	SNP	0.006	G
JAK3	3718	genome.wustl.edu	37	19	17953301	17953301	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:17953301C>T	ENST00000527670.1	-	5	714	c.685G>A	c.(685-687)Gca>Aca	p.A229T	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.A229T|JAK3_ENST00000458235.1_Missense_Mutation_p.A229T			P52333	JAK3_HUMAN	Janus kinase 3	229	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGCCGGTCTGCCTGGCAGGCG	0.706		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													20.0	17.0	18.0					19																	17953301		2188	4283	6471	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.685G>A	19.37:g.17953301C>T	ENSP00000432511:p.Ala229Thr		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A229T	ENST00000527670.1	37	c.685	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151922	0.57151	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.58940	0.3;0.3;0.3	4.41	4.41	0.53225	Band 4.1 domain (1);FERM domain (1);	0.233904	0.34700	N	0.003760	T	0.47078	0.1426	L	0.51422	1.61	0.34425	D	0.697902	B;B;B	0.31548	0.328;0.2;0.222	B;B;B	0.28385	0.079;0.089;0.086	T	0.59500	-0.7443	10	0.39692	T	0.17	-11.5407	8.423	0.32712	0.0:0.8914:0.0:0.1086	.	229;229;229	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	T	229	ENSP00000391676:A229T;ENSP00000432511:A229T;ENSP00000436421:A229T	ENSP00000413248:A229T	A	-	1	0	JAK3	17814301	0.929000	0.31497	0.963000	0.40424	0.856000	0.48823	1.682000	0.37628	2.025000	0.59659	0.430000	0.28490	GCA	JAK3	-	superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain		0.706	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	C	NM_000215		17953301	-1	no_errors	ENST00000458235	ensembl	human	known	70_37	missense	SNP	0.983	T
JARID2	3720	genome.wustl.edu	37	6	15452293	15452293	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:15452293C>T	ENST00000341776.2	+	4	624	c.380C>T	c.(379-381)aCa>aTa	p.T127I	JARID2_ENST00000541660.1_Missense_Mutation_p.T89I|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	127					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTCCCAGCACAACTCCAGTA	0.433																																																	0													93.0	89.0	90.0					6																	15452293		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.380C>T	6.37:g.15452293C>T	ENSP00000341280:p.Thr127Ile		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.T127I	ENST00000341776.2	37	c.380	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310562	0.81358	.	.	ENSG00000008083	ENST00000341776;ENST00000541660	T;T	0.55052	0.54;1.34	5.4	5.4	0.78164	.	0.050119	0.85682	D	0.000000	T	0.56558	0.1993	L	0.34521	1.04	0.80722	D	1	D;P	0.89917	1.0;0.872	D;B	0.74674	0.984;0.323	T	0.57213	-0.7850	10	0.46703	T	0.11	-6.8882	19.1821	0.93628	0.0:1.0:0.0:0.0	.	89;127	F5H590;Q92833	.;JARD2_HUMAN	I	127;89	ENSP00000341280:T127I;ENSP00000444623:T89I	ENSP00000341280:T127I	T	+	2	0	JARID2	15560272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.455000	0.60075	2.513000	0.84729	0.655000	0.94253	ACA	JARID2	-	NULL		0.433	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	C	NM_004973		15452293	+1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	1.000	T
JMY	133746	genome.wustl.edu	37	5	78610183	78610183	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:78610183C>T	ENST00000396137.4	+	9	2630	c.2168C>T	c.(2167-2169)tCt>tTt	p.S723F	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	723					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CATTGTGACTCTTTACCAAGT	0.463																																																	0													78.0	80.0	79.0					5																	78610183		2027	4212	6239	SO:0001583	missense	133746			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2168C>T	5.37:g.78610183C>T	ENSP00000379441:p.Ser723Phe		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	pfscan_WH2_dom	p.S723F	ENST00000396137.4	37	c.2168	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695842	0.30052	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.74209	-0.82	4.36	3.47	0.39725	.	0.853589	0.10159	N	0.708585	T	0.77791	0.4183	L	0.57536	1.79	0.09310	N	1	P	0.45212	0.853	P	0.51777	0.679	T	0.64778	-0.6327	10	0.62326	D	0.03	.	8.0119	0.30357	0.0:0.7523:0.1621:0.0856	.	723	Q8N9B5	JMY_HUMAN	F	723	ENSP00000379441:S723F	ENSP00000282259:S723F	S	+	2	0	JMY	78645939	0.336000	0.24757	0.003000	0.11579	0.160000	0.22226	2.828000	0.48120	0.807000	0.34208	0.585000	0.79938	TCT	JMY	-	NULL		0.463	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	C	NM_152405		78610183	+1	no_errors	ENST00000396137	ensembl	human	known	70_37	missense	SNP	0.005	T
JPH1	56704	genome.wustl.edu	37	8	75227566	75227566	+	Silent	SNP	A	A	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:75227566A>T	ENST00000342232.4	-	2	709	c.669T>A	c.(667-669)ctT>ctA	p.L223L		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	223					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGGACTTGCGAAGTTTCATGC	0.592																																																	0													68.0	74.0	72.0					8																	75227566		2203	4300	6503	SO:0001819	synonymous_variant	56704			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.669T>A	8.37:g.75227566A>T			B2RTZ0	Silent	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.L223	ENST00000342232.4	37	c.669	CCDS6217.1	8																																																																																			JPH1	-	pirsf_Junctophilin		0.592	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	HGNC	protein_coding	OTTHUMT00000379102.1	A			75227566	-1	no_errors	ENST00000342232	ensembl	human	known	70_37	silent	SNP	0.152	T
KCNA4	3739	genome.wustl.edu	37	11	30034993	30034993	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:30034993G>T	ENST00000328224.6	-	0	466				KCNA4_ENST00000526518.1_5'UTR	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4						potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	AAATCATGCAGAAGAAGCACT	0.398																																																	0																																												3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459			11.37:g.30034993G>T				RNA	SNP	-	NULL	ENST00000328224.6	37	NULL	CCDS41629.1	11																																																																																			KCNA4	-	-		0.398	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	G	NM_002233		30034993	-1	no_errors	ENST00000526518	ensembl	human	putative	70_37	rna	SNP	1.000	T
KCNIP2	30819	genome.wustl.edu	37	10	103587399	103587399	+	Intron	SNP	C	C	G	rs536763907		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:103587399C>G	ENST00000356640.2	-	9	1041				KCNIP2_ENST00000461105.1_Intron|KCNIP2_ENST00000348850.5_Intron|KCNIP2_ENST00000358038.3_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_Intron|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000370046.1_Intron	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2						clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		ATTACTAAATCAGGCCTGAGT	0.478																																																	0													111.0	91.0	98.0					10																	103587399		2203	4300	6503	SO:0001627	intron_variant	30819				CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.765+46G>C	10.37:g.103587399C>G			A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Nonstop_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.*185S	ENST00000356640.2	37	c.554	CCDS7522.1	10	.	.	.	.	.	.	.	.	.	.	C	7.648	0.682380	0.14907	.	.	ENSG00000120049	ENST00000239117	.	.	.	4.77	-0.941	0.10402	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9289	0.03323	0.1281:0.2323:0.3783:0.2612	.	.	.	.	S	185	.	.	X	-	2	2	KCNIP2	103577389	0.000000	0.05858	0.009000	0.14445	0.463000	0.32649	-1.351000	0.02622	-0.245000	0.09625	0.561000	0.74099	TGA	KCNIP2	-	NULL		0.478	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	KCNIP2	HGNC	protein_coding	OTTHUMT00000049973.1	C			103587399	-1	no_errors	ENST00000239117	ensembl	human	known	70_37	nonstop	SNP	0.000	G
KCNIP3	30818	genome.wustl.edu	37	2	96048139	96048139	+	Missense_Mutation	SNP	C	C	G	rs371878238		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:96048139C>G	ENST00000295225.5	+	7	705	c.570C>G	c.(568-570)atC>atG	p.I190M	KCNIP3_ENST00000360990.3_Missense_Mutation_p.I168M|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Missense_Mutation_p.I164M	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	190	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGCTGGCCATCATGAAGTCCA	0.662																																																	0													27.0	26.0	26.0					2																	96048139		2202	4300	6502	SO:0001583	missense	30818			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.570C>G	2.37:g.96048139C>G	ENSP00000295225:p.Ile190Met		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.I190M	ENST00000295225.5	37	c.570	CCDS2013.1	2	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309190	0.60414	.	.	ENSG00000115041	ENST00000295225;ENST00000360990;ENST00000468529	T;T;T	0.71934	-0.61;-0.61;-0.61	5.22	3.42	0.39159	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	L	0.58302	1.8	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.75789	-0.3194	10	0.87932	D	0	.	5.1883	0.15195	0.1633:0.663:0.0:0.1737	.	164;190	Q9Y2W7-3;Q9Y2W7	.;CSEN_HUMAN	M	190;168;164	ENSP00000295225:I190M;ENSP00000354261:I168M;ENSP00000417499:I164M	ENSP00000295225:I190M	I	+	3	3	KCNIP3	95411866	0.846000	0.29590	1.000000	0.80357	0.997000	0.91878	-0.018000	0.12568	0.710000	0.31997	0.561000	0.74099	ATC	KCNIP3	-	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.662	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	KCNIP3	HGNC	protein_coding	OTTHUMT00000252770.1	C	NM_013434		96048139	+1	no_errors	ENST00000295225	ensembl	human	known	70_37	missense	SNP	1.000	G
KCNK13	56659	genome.wustl.edu	37	14	90650517	90650517	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:90650517G>C	ENST00000282146.4	+	2	838	c.397G>C	c.(397-399)Gtt>Ctt	p.V133L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	133					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTACGGCCTTGTTGGGTGTTC	0.502																																																	0													113.0	120.0	118.0					14																	90650517		2203	4300	6503	SO:0001583	missense	56659			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.397G>C	14.37:g.90650517G>C	ENSP00000282146:p.Val133Leu		B5TJL8|Q96E79	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.V133L	ENST00000282146.4	37	c.397	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	G	2.539	-0.306727	0.05458	.	.	ENSG00000152315	ENST00000282146	T	0.28454	1.61	5.31	-7.78	0.01223	Ion transport 2 (1);	0.660459	0.12487	N	0.464632	T	0.10937	0.0267	N	0.13299	0.325	0.24613	N	0.993713	B	0.02656	0.0	B	0.04013	0.001	T	0.32079	-0.9920	10	0.09338	T	0.73	.	7.0159	0.24887	0.4508:0.208:0.3412:0.0	.	133	Q9HB14	KCNKD_HUMAN	L	133	ENSP00000282146:V133L	ENSP00000282146:V133L	V	+	1	0	KCNK13	89720270	0.601000	0.26907	0.481000	0.27354	0.227000	0.25037	0.313000	0.19415	-1.868000	0.01142	-0.889000	0.02933	GTT	KCNK13	-	pfam_Ion_trans_2,prints_2pore_dom_K_chnl		0.502	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1	G	NM_022054		90650517	+1	no_errors	ENST00000282146	ensembl	human	known	70_37	missense	SNP	0.411	C
KDM1A	23028	genome.wustl.edu	37	1	23399797	23399797	+	Silent	SNP	C	C	T	rs369674278		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:23399797C>T	ENST00000356634.3	+	13	1712	c.1563C>T	c.(1561-1563)ctC>ctT	p.L521L	KDM1A_ENST00000542151.1_Silent_p.L545L|KDM1A_ENST00000400181.4_Silent_p.L545L|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	521	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ATGTATATCTCTCATCAAGAG	0.393																																																	0								C	,	0,4406		0,0,2203	135.0	137.0	136.0		1635,1563	-4.7	0.5	1		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KDM1A	NM_001009999.2,NM_015013.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	545/877,521/853	23399797	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23028			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1563C>T	1.37:g.23399797C>T			A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	p.L545	ENST00000356634.3	37	c.1635	CCDS30627.1	1																																																																																			KDM1A	-	pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease		0.393	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KDM1A	HGNC	protein_coding	OTTHUMT00000008880.3	C	NM_015013		23399797	+1	no_errors	ENST00000542151	ensembl	human	known	70_37	silent	SNP	0.988	T
KDM2A	22992	genome.wustl.edu	37	11	67024771	67024771	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:67024771G>A	ENST00000529006.2	+	0	6180				KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A						histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TTGGTCAGCAGAAAAGGGAGC	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.*2245G>A	11.37:g.67024771G>A			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	RNA	SNP	-	NULL	ENST00000529006.2	37	NULL	CCDS44657.1	11																																																																																			KDM2A	-	-		0.433	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		67024771	+1	no_errors	ENST00000524657	ensembl	human	known	70_37	rna	SNP	0.199	A
KDM4C	23081	genome.wustl.edu	37	9	7011800	7011800	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:7011800C>T	ENST00000381309.3	+	13	2454	c.1889C>T	c.(1888-1890)gCt>gTt	p.A630V	KDM4C_ENST00000428870.2_Missense_Mutation_p.A317V|KDM4C_ENST00000536108.1_Missense_Mutation_p.A449V|KDM4C_ENST00000535193.1_Missense_Mutation_p.A652V|KDM4C_ENST00000381306.3_Missense_Mutation_p.A630V|KDM4C_ENST00000543771.1_Missense_Mutation_p.A630V|KDM4C_ENST00000442236.2_Missense_Mutation_p.A375V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	630					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						AACTTCGCAGCTGAGCAAGAG	0.512																																																	0													95.0	86.0	89.0					9																	7011800		2203	4300	6503	SO:0001583	missense	23081			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.1889C>T	9.37:g.7011800C>T	ENSP00000370710:p.Ala630Val		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.A630V	ENST00000381309.3	37	c.1889	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164061	0.57476	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.76	3.91	0.45181	.	0.109669	0.64402	D	0.000009	T	0.71333	0.3327	M	0.84082	2.675	0.51012	D	0.999903	B;P;D;D;D	0.89917	0.349;0.48;1.0;1.0;1.0	B;B;D;D;D	0.81914	0.086;0.115;0.995;0.981;0.988	T	0.73461	-0.3975	10	0.46703	T	0.11	-13.2061	11.1613	0.48518	0.0:0.8019:0.1295:0.0686	.	375;630;652;630;630	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	V	652;630;630;630;375;449;317	ENSP00000442382:A652V;ENSP00000445427:A630V;ENSP00000370710:A630V;ENSP00000370707:A630V;ENSP00000409353:A375V;ENSP00000440656:A449V;ENSP00000405739:A317V	ENSP00000370707:A630V	A	+	2	0	KDM4C	7001800	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	5.656000	0.67988	1.420000	0.47138	0.655000	0.94253	GCT	KDM4C	-	NULL		0.512	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	C	NM_015061		7011800	+1	no_errors	ENST00000381309	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA0319L	79932	genome.wustl.edu	37	1	35920058	35920058	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:35920058G>C	ENST00000325722.3	-	11	1919	c.1685C>G	c.(1684-1686)tCt>tGt	p.S562C	KIAA0319L_ENST00000373266.4_5'UTR|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	562	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCATCGCAGAGAGCTGTAA	0.453																																																	0													159.0	126.0	137.0					1																	35920058		2203	4300	6503	SO:0001583	missense	79932			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1685C>G	1.37:g.35920058G>C	ENSP00000318406:p.Ser562Cys		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.S562C	ENST00000325722.3	37	c.1685	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887523	0.72410	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579	T;T;T	0.14766	2.48;2.48;2.48	5.95	5.95	0.96441	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (3);	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.98	T	0.59925	-0.7362	10	0.87932	D	0	-13.5	19.3813	0.94536	0.0:0.0:1.0:0.0	.	562;562	Q8IZA0-2;Q8IZA0	.;K319L_HUMAN	C	562	ENSP00000318406:S562C;ENSP00000395883:S562C;ENSP00000407576:S562C	ENSP00000318406:S562C	S	-	2	0	KIAA0319L	35692645	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	9.807000	0.99171	2.824000	0.97209	0.655000	0.94253	TCT	KIAA0319L	-	superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom		0.453	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	G	NM_024874		35920058	-1	no_errors	ENST00000325722	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA0754	643314	genome.wustl.edu	37	1	39877348	39877348	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:39877348G>C	ENST00000530275.1	+	1	1198	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	335										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTTGAACTTGAAAAGGAGTG	0.438											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													119.0	115.0	116.0					1																	39877348		1911	4132	6043	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1003G>C	1.37:g.39877348G>C	ENSP00000431179:p.Glu335Gln	889	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.E335Q	ENST00000530275.1	37	c.1003		1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773147	0.90108	.	.	ENSG00000255103	ENST00000530275	D	0.86497	-2.13	5.14	5.14	0.70334	.	.	.	.	.	D	0.90133	0.6917	L	0.27053	0.805	0.28447	N	0.916506	D	0.89917	1.0	D	0.87578	0.998	D	0.85948	0.1462	9	0.87932	D	0	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	335	O94854	K0754_HUMAN	Q	335	ENSP00000431179:E335Q	ENSP00000431179:E335Q	E	+	1	0	RP4-562N20.1	39649935	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.617000	0.83032	2.398000	0.81561	0.655000	0.94253	GAA	KIAA0754	-	NULL		0.438	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	G	NM_015038		39877348	+1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	1.000	C
CEP162	22832	genome.wustl.edu	37	6	84871559	84871559	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:84871559C>G	ENST00000403245.3	-	20	2696	c.2582G>C	c.(2581-2583)aGa>aCa	p.R861T	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R785T	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CCACTGTAATCTTTTTTGCAG	0.328																																																	0													125.0	116.0	119.0					6																	84871559		2202	4299	6501	SO:0001583	missense	22832																														ENST00000403245.3:c.2582G>C	6.37:g.84871559C>G	ENSP00000385215:p.Arg861Thr			Missense_Mutation	SNP	NULL	p.R861T	ENST00000403245.3	37	c.2582	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594153	0.66219	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.32272	1.46;1.46	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.45955	0.1368	M	0.76574	2.34	0.41522	D	0.9884	D	0.89917	1.0	D	0.74023	0.982	T	0.45963	-0.9225	10	0.62326	D	0.03	-19.6725	12.5927	0.56451	0.0:0.9235:0.0:0.0765	.	861	Q5TB80	QN1_HUMAN	T	785;861	ENSP00000257766:R785T;ENSP00000385215:R861T	ENSP00000257766:R785T	R	-	2	0	KIAA1009	84928278	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	2.180000	0.42537	2.628000	0.89032	0.655000	0.94253	AGA	KIAA1009	-	NULL		0.328	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84871559	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA1107	23285	genome.wustl.edu	37	1	92647526	92647526	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:92647526C>T	ENST00000370378.4	+	8	3070	c.2972C>T	c.(2971-2973)tCt>tTt	p.S991F	KIAA1107_ENST00000409154.4_Missense_Mutation_p.S1046F	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	1046										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						CGTGAATTTTCTGCAACTAAA	0.373																																																	0													49.0	44.0	45.0					1																	92647526		692	1591	2283	SO:0001583	missense	23285			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.2972C>T	1.37:g.92647526C>T	ENSP00000359404:p.Ser991Phe		O14767|Q8N3X7	Missense_Mutation	SNP	NULL	p.S1046F	ENST00000370378.4	37	c.3137	CCDS44172.1	1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012634	0.54468	.	.	ENSG00000069712	ENST00000409154;ENST00000370378	T;T	0.06142	3.35;3.34	5.79	3.9	0.45041	.	0.424015	0.26446	N	0.024328	T	0.04407	0.0121	L	0.27053	0.805	0.31196	N	0.700401	D	0.56035	0.974	P	0.51135	0.66	T	0.09907	-1.0653	10	0.66056	D	0.02	.	16.2169	0.82237	0.0:0.7326:0.2674:0.0	.	991	E9PEZ5	.	F	1046;991	ENSP00000386957:S1046F;ENSP00000359404:S991F	ENSP00000359404:S991F	S	+	2	0	KIAA1107	92420114	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	4.167000	0.58209	0.770000	0.33336	0.655000	0.94253	TCT	KIAA1107	-	NULL		0.373	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	C	XM_034086		92647526	+1	no_errors	ENST00000409154	ensembl	human	known	70_37	missense	SNP	0.993	T
KIAA1244	57221	genome.wustl.edu	37	6	138608232	138608232	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:138608232C>T	ENST00000251691.4	+	17	2973	c.2807C>T	c.(2806-2808)tCa>tTa	p.S936L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AACTGCGCCTCAGCCCTTGCC	0.512																																																	0													65.0	54.0	58.0					6																	138608232		2203	4298	6501	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2807C>T	6.37:g.138608232C>T	ENSP00000251691:p.Ser936Leu			Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.S936L	ENST00000251691.4	37	c.2807	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701546	0.88924	.	.	ENSG00000112379	ENST00000251691	T	0.19394	2.15	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.02411	-1.1163	10	0.41790	T	0.15	-21.9521	17.8535	0.88755	0.0:1.0:0.0:0.0	.	936	Q5TH69	BIG3_HUMAN	L	936	ENSP00000251691:S936L	ENSP00000251691:S936L	S	+	2	0	KIAA1244	138649925	1.000000	0.71417	0.902000	0.35471	0.896000	0.52359	7.307000	0.78920	2.448000	0.82819	0.655000	0.94253	TCA	KIAA1244	-	superfamily_ARM-type_fold		0.512	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	C	NM_020340		138608232	+1	no_errors	ENST00000251691	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA1324	57535	genome.wustl.edu	37	1	109731732	109731732	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:109731732G>A	ENST00000369939.3	+	10	1447	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	KIAA1324_ENST00000529753.1_Missense_Mutation_p.E335K|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	422					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGTGGGATTTGAATACAAATG	0.522																																																	0													112.0	97.0	102.0					1																	109731732		2203	4300	6503	SO:0001583	missense	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1264G>A	1.37:g.109731732G>A	ENSP00000358955:p.Glu422Lys		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.E422K	ENST00000369939.3	37	c.1264	CCDS794.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.575933	0.96553	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.54479	0.57;0.57;0.57	5.12	5.12	0.69794	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.996;0.987;0.987	T	0.64744	-0.6335	10	0.42905	T	0.14	-15.9179	17.4771	0.87662	0.0:0.0:1.0:0.0	.	422;335;422;422	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	K	422;372;335	ENSP00000358955:E422K;ENSP00000393964:E372K;ENSP00000434595:E335K	ENSP00000358955:E422K	E	+	1	0	KIAA1324	109533255	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.625000	0.98406	2.669000	0.90835	0.561000	0.74099	GAA	KIAA1324	-	superfamily_Growth_fac_rcpt		0.522	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2	G	NM_020775		109731732	+1	no_errors	ENST00000369939	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1551	55196	genome.wustl.edu	37	12	32138266	32138266	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:32138266G>C	ENST00000312561.4	+	4	4791	c.4377G>C	c.(4375-4377)ctG>ctC	p.L1459L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1459				L -> P (in Ref. 3; BAA91734). {ECO:0000305}.													AAGAAGCTCTGAGTAATAAAG	0.378																																																	0													61.0	67.0	65.0					12																	32138266		2203	4299	6502	SO:0001819	synonymous_variant	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4377G>C	12.37:g.32138266G>C			B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	NULL	p.L1459	ENST00000312561.4	37	c.4377	CCDS8725.2	12																																																																																			KIAA1551	-	NULL		0.378	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	G	NM_018169		32138266	+1	no_errors	ENST00000312561	ensembl	human	known	70_37	silent	SNP	0.000	C
KIAA1683	80726	genome.wustl.edu	37	19	18377934	18377934	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:18377934C>T	ENST00000600328.3	-	3	609	c.416G>A	c.(415-417)cGc>cAc	p.R139H	KIAA1683_ENST00000392413.4_Missense_Mutation_p.R139H|KIAA1683_ENST00000600359.3_Missense_Mutation_p.R93H			Q9H0B3	K1683_HUMAN	KIAA1683	139						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGTTGAAGCGCCGCCAGGC	0.597																																																	0													58.0	57.0	58.0					19																	18377934		2203	4300	6503	SO:0001583	missense	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.416G>A	19.37:g.18377934C>T	ENSP00000470780:p.Arg139His		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R139H	ENST00000600328.3	37	c.416	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361358	0.41801	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422;ENST00000411671	T;T;T	0.73047	-0.71;-0.71;-0.71	3.53	2.44	0.29823	.	0.000000	0.34932	N	0.003576	T	0.71617	0.3361	L	0.34521	1.04	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.912	T	0.58183	-0.7681	10	0.62326	D	0.03	-26.8838	6.9982	0.24795	0.0:0.8653:0.0:0.1347	.	139;139	E9PDE0;Q9H0B3	.;K1683_HUMAN	H	139;139;93;138;139	ENSP00000376213:R139H;ENSP00000352774:R139H;ENSP00000404501:R93H	ENSP00000351198:R138H	R	-	2	0	KIAA1683	18238934	0.521000	0.26258	0.971000	0.41717	0.076000	0.17211	0.600000	0.24104	1.821000	0.53095	0.313000	0.20887	CGC	KIAA1683	-	NULL		0.597	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	C			18377934	-1	no_errors	ENST00000392413	ensembl	human	known	70_37	missense	SNP	0.145	T
KIAA2026	158358	genome.wustl.edu	37	9	5923119	5923119	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:5923119C>G	ENST00000399933.3	-	8	2876	c.2877G>C	c.(2875-2877)gaG>gaC	p.E959D	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E929D	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	959										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAACTGTTGTCTCATTTGTGC	0.388																																																	0													199.0	188.0	192.0					9																	5923119		1937	4156	6093	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2877G>C	9.37:g.5923119C>G	ENSP00000382815:p.Glu959Asp		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.E959D	ENST00000399933.3	37	c.2877		9	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677455	0.29783	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.27	0.699	0.18093	.	0.000000	0.64402	D	0.000010	T	0.26557	0.0649	L	0.32530	0.975	0.24950	N	0.991791	B	0.24576	0.106	B	0.26770	0.073	T	0.12863	-1.0531	9	0.40728	T	0.16	-8.4048	4.8451	0.13510	0.1339:0.5046:0.0:0.3615	.	959	Q5HYC2	K2026_HUMAN	D	959;929	.	ENSP00000370870:E929D	E	-	3	2	KIAA2026	5913119	0.004000	0.15560	0.552000	0.28243	0.784000	0.44337	-0.042000	0.12063	-0.164000	0.10927	0.313000	0.20887	GAG	KIAA2026	-	NULL		0.388	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	C	NM_001017969		5923119	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	missense	SNP	0.851	G
KIF1A	547	genome.wustl.edu	37	2	241689949	241689949	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:241689949C>G	ENST00000320389.7	-	26	2729	c.2571G>C	c.(2569-2571)ctG>ctC	p.L857L	KIF1A_ENST00000498729.2_Silent_p.L958L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	857					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCAGGTTGCTCAGGTACACGA	0.657																																																	0													54.0	61.0	58.0					2																	241689949		2141	4253	6394	SO:0001819	synonymous_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2571G>C	2.37:g.241689949C>G			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	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.L958	ENST00000320389.7	37	c.2874	CCDS46561.1	2																																																																																			KIF1A	-	NULL		0.657	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	C	NM_138483		241689949	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	silent	SNP	1.000	G
KIF1C	10749	genome.wustl.edu	37	17	4925560	4925560	+	Silent	SNP	C	C	T	rs369357478		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:4925560C>T	ENST00000320785.5	+	22	2541	c.2184C>T	c.(2182-2184)atC>atT	p.I728I	KIF1C_ENST00000573815.1_3'UTR|AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	728					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TTTATCAGATCCCCCAGCGAC	0.657																																					Melanoma(96;1023 1447 10250 19259 33730)												0													27.0	29.0	28.0					17																	4925560		2203	4300	6503	SO:0001819	synonymous_variant	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2184C>T	17.37:g.4925560C>T			D3DTL6|O75186|Q5U618	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I728	ENST00000320785.5	37	c.2184	CCDS11065.1	17																																																																																			KIF1C	-	NULL		0.657	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	C			4925560	+1	no_errors	ENST00000320785	ensembl	human	known	70_37	silent	SNP	1.000	T
KIF21A	55605	genome.wustl.edu	37	12	39716558	39716559	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:39716558_39716559TC>AG	ENST00000361418.5	-	27	3597_3598	c.3582_3583GA>CT	c.(3580-3585)gaGAtt>gaCTtt	p.1194_1195EI>DF	KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000395670.3_Missense_Mutation_p.1194_1195EI>DF|KIF21A_ENST00000544797.2_Missense_Mutation_p.1174_1175EI>DF|KIF21A_ENST00000541463.2_Missense_Mutation_p.1158_1159EI>DF|KIF21A_ENST00000361961.3_Missense_Mutation_p.1181_1182EI>DF			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1194					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCATTCCAATCTCTTGCCCTT	0.49																																																	0																																										SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3582_3583delinsAG	12.37:g.39716558_39716559delinsAG	ENSP00000354878:p.E1194_I1195delinsDF		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.I1195F|p.E1194D	ENST00000361418.5	37	c.3583|c.3582	CCDS53776.1	12																																																																																			KIF21A	-	NULL		0.490	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	T|C	NM_017641		39716558|39716559	-1	no_errors	ENST00000395670	ensembl	human	known	70_37	missense	SNP	0.904|0.910	A|G
KIF3A	11127	genome.wustl.edu	37	5	132044647	132044647	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:132044647C>T	ENST00000378746.4	-	9	1447				KIF3A_ENST00000378735.1_Intron|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.D418N	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A						anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATGTGGAGTCTGAACTACTG	0.423																																																	0																																										SO:0001627	intron_variant	11127			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1228+2003G>A	5.37:g.132044647C>T			A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D418N	ENST00000378746.4	37	c.1252	CCDS34235.1	5	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285143	0.59867	.	.	ENSG00000131437	ENST00000541316;ENST00000403231	T	0.72167	-0.63	5.98	4.09	0.47781	.	.	.	.	.	T	0.62319	0.2418	.	.	.	0.28670	N	0.905651	P;P	0.41232	0.743;0.743	B;B	0.37267	0.245;0.245	T	0.57441	-0.7811	8	0.36615	T	0.2	.	15.2696	0.73689	0.2554:0.7446:0.0:0.0	.	418;417	E9PES4;Q2UVF2	.;.	N	418	ENSP00000385808:D418N	ENSP00000385808:D418N	D	-	1	0	KIF3A	132072546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.832000	0.55783	1.473000	0.48159	0.563000	0.77884	GAC	KIF3A	-	NULL		0.423	KIF3A-001	KNOWN	basic|CCDS	protein_coding	KIF3A	HGNC	protein_coding	OTTHUMT00000132788.3	C	NM_007054		132044647	-1	no_errors	ENST00000403231	ensembl	human	novel	70_37	missense	SNP	1.000	T
KIF6	221458	genome.wustl.edu	37	6	39563909	39563909	+	Missense_Mutation	SNP	C	C	T	rs537999500		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:39563909C>T	ENST00000287152.7	-	7	861	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	KIF6_ENST00000373216.3_Missense_Mutation_p.R256Q|KIF6_ENST00000538893.1_Missense_Mutation_p.R256Q|KIF6_ENST00000373213.4_Missense_Mutation_p.R95Q|KIF6_ENST00000373215.3_Missense_Mutation_p.R256Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	256	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTTTGCAACTCGCTCTGAACC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		14067	0.0		0.0	False		,,,				2504	0.001																0													120.0	109.0	113.0					6																	39563909		2203	4300	6503	SO:0001583	missense	221458			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.767G>A	6.37:g.39563909C>T	ENSP00000287152:p.Arg256Gln		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R256Q	ENST00000287152.7	37	c.767	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.508622|5.508622	0.96386|0.96386	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000458470|ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893;ENST00000441975;ENST00000373211	.|T;T;T;T;T;T	.|0.79033	.|-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Kinesin, motor domain (5);	.|.	.|.	.|.	.|.	D|D	0.92815|0.92815	0.7715|0.7715	H|H	0.98466|0.98466	4.24|4.24	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.995;0.998;0.998;0.996	D|D	0.94848|0.94848	0.8011|0.8011	5|9	.|0.87932	.|D	.|0	.|.	18.2312|18.2312	0.89936|0.89936	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|256;256;256;256	.|E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.|.;.;.;KIF6_HUMAN	K|Q	148|256;256;95;256;256;43;47	.|ENSP00000287152:R256Q;ENSP00000362312:R256Q;ENSP00000362309:R95Q;ENSP00000362311:R256Q;ENSP00000441435:R256Q;ENSP00000404856:R43Q	.|ENSP00000287152:R256Q	E|R	-|-	1|2	0|0	KIF6|KIF6	39671887|39671887	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.869000|0.869000	0.49853|0.49853	7.729000|7.729000	0.84864|0.84864	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GAG|CGA	KIF6	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.468	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	C	NM_145027		39563909	-1	no_errors	ENST00000287152	ensembl	human	known	70_37	missense	SNP	1.000	T
KLHDC3	116138	genome.wustl.edu	37	6	42986399	42986399	+	Silent	SNP	T	T	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:42986399T>C	ENST00000326974.4	+	7	957	c.762T>C	c.(760-762)ttT>ttC	p.F254F	RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000244670.8_Silent_p.F120F|KLHDC3_ENST00000332245.8_Silent_p.F195F	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	254					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTACATCTTTGGTGGTTATA	0.488																																																	0													225.0	229.0	228.0					6																	42986399		2203	4300	6503	SO:0001819	synonymous_variant	116138			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.762T>C	6.37:g.42986399T>C			A8K2W9	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1	p.F254	ENST00000326974.4	37	c.762	CCDS4880.1	6																																																																																			KLHDC3	-	pfam_Kelch_1		0.488	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	HGNC	protein_coding	OTTHUMT00000040570.1	T	NM_057161		42986399	+1	no_errors	ENST00000326974	ensembl	human	known	70_37	silent	SNP	1.000	C
KLHL4	56062	genome.wustl.edu	37	X	86873003	86873003	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:86873003C>G	ENST00000373119.4	+	4	941	c.796C>G	c.(796-798)Cag>Gag	p.Q266E	KLHL4_ENST00000373114.4_Missense_Mutation_p.Q266E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	266						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCAGCTGACTCAGGTCATTGA	0.418																																																	0													98.0	80.0	86.0					X																	86873003		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.796C>G	X.37:g.86873003C>G	ENSP00000362211:p.Gln266Glu		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.Q266E	ENST00000373119.4	37	c.796	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410367	0.25465	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.66099	-0.19;-0.19	4.74	4.74	0.60224	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.207411	0.41712	D	0.000832	T	0.36413	0.0966	N	0.03983	-0.305	0.53005	D	0.999967	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.007	T	0.33599	-0.9862	10	0.06494	T	0.89	.	15.9642	0.79952	0.0:1.0:0.0:0.0	.	266;266	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	E	266	ENSP00000362211:Q266E;ENSP00000362206:Q266E	ENSP00000362206:Q266E	Q	+	1	0	KLHL4	86759659	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.460000	0.66691	1.960000	0.56953	0.502000	0.49764	CAG	KLHL4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.418	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	C			86873003	+1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	G
KNTC1	9735	genome.wustl.edu	37	12	123069534	123069534	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:123069534G>T	ENST00000333479.7	+	36	3708	c.3531G>T	c.(3529-3531)atG>atT	p.M1177I	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1177					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAATCCTCATGAAAGTAAGTT	0.378																																																	0													68.0	64.0	66.0					12																	123069534		1832	4094	5926	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3531G>T	12.37:g.123069534G>T	ENSP00000328236:p.Met1177Ile		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.M1177I	ENST00000333479.7	37	c.3531	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	7.911	0.736448	0.15574	.	.	ENSG00000184445	ENST00000333479	T	0.14022	2.54	5.91	2.77	0.32553	.	0.344763	0.33772	N	0.004564	T	0.09024	0.0223	L	0.36672	1.1	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.20009	-1.0288	10	0.20519	T	0.43	-6.1184	5.2058	0.15289	0.4991:0.0:0.5009:0.0	.	1177	P50748	KNTC1_HUMAN	I	1177	ENSP00000328236:M1177I	ENSP00000328236:M1177I	M	+	3	0	KNTC1	121635487	1.000000	0.71417	0.940000	0.37924	0.008000	0.06430	0.841000	0.27613	0.846000	0.35142	-0.140000	0.14226	ATG	KNTC1	-	NULL		0.378	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123069534	+1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	1.000	T
KRBA1	84626	genome.wustl.edu	37	7	149430667	149430667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:149430667G>A	ENST00000485033.2	+	15	2441	c.2441G>A	c.(2440-2442)tGg>tAg	p.W814*	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Nonsense_Mutation_p.W814*|KRBA1_ENST00000255992.10_Nonsense_Mutation_p.W874*			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	875										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCCCTACTGGAGGCAGAAG	0.647																																																	0													15.0	18.0	17.0					7																	149430667		2058	4189	6247	SO:0001587	stop_gained	84626			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2441G>A	7.37:g.149430667G>A	ENSP00000420112:p.Trp814*		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Nonsense_Mutation	SNP	NULL	p.W874*	ENST00000485033.2	37	c.2621		7	.	.	.	.	.	.	.	.	.	.	G	38	7.030348	0.98013	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	.	.	.	5.39	5.39	0.77823	.	0.613737	0.13753	N	0.365129	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.0334	14.6513	0.68800	0.0:0.0:1.0:0.0	.	.	.	.	X	874;814;814	.	ENSP00000255992:W874X	W	+	2	0	KRBA1	149061600	1.000000	0.71417	0.998000	0.56505	0.767000	0.43475	2.866000	0.48420	2.531000	0.85337	0.467000	0.42956	TGG	KRBA1	-	NULL		0.647	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	G	NM_032534		149430667	+1	no_errors	ENST00000255992	ensembl	human	known	70_37	nonsense	SNP	0.985	A
KRT20	54474	genome.wustl.edu	37	17	39041320	39041320	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:39041320C>T	ENST00000167588.3	-	1	159	c.118G>A	c.(118-120)Gga>Aga	p.G40R		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	40	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CCCCGGCCTCCAGCACCCCCA	0.602																																																	0													58.0	56.0	57.0					17																	39041320		2203	4300	6503	SO:0001583	missense	54474			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.118G>A	17.37:g.39041320C>T	ENSP00000167588:p.Gly40Arg		B2R6W7	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.G40R	ENST00000167588.3	37	c.118	CCDS11379.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541811	0.85917	.	.	ENSG00000171431	ENST00000167588	D	0.85411	-1.98	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000014	D	0.92586	0.7645	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90420	0.4416	10	0.25751	T	0.34	.	18.2119	0.89873	0.0:1.0:0.0:0.0	.	40	P35900	K1C20_HUMAN	R	40	ENSP00000167588:G40R	ENSP00000167588:G40R	G	-	1	0	KRT20	36294846	1.000000	0.71417	0.998000	0.56505	0.326000	0.28443	7.515000	0.81761	2.737000	0.93849	0.655000	0.94253	GGA	KRT20	-	NULL		0.602	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	HGNC	protein_coding	OTTHUMT00000257202.2	C			39041320	-1	no_errors	ENST00000167588	ensembl	human	known	70_37	missense	SNP	1.000	T
KRT32	3882	genome.wustl.edu	37	17	39623157	39623157	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:39623157G>C	ENST00000225899.3	-	1	524	c.421C>G	c.(421-423)Cct>Gct	p.P141A	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	141	Linker 1.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TGGTAGTCAGGAGTCATGGTG	0.592																																																	0													92.0	83.0	86.0					17																	39623157		2203	4300	6503	SO:0001583	missense	3882			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.421C>G	17.37:g.39623157G>C	ENSP00000225899:p.Pro141Ala			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.P141A	ENST00000225899.3	37	c.421	CCDS11393.1	17	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180349	0.38511	.	.	ENSG00000108759	ENST00000225899	D	0.88277	-2.36	5.23	4.26	0.50523	Filament (1);	0.000000	0.39083	N	0.001479	D	0.89598	0.6761	M	0.63428	1.95	0.19575	N	0.999969	P	0.35456	0.502	B	0.44044	0.439	D	0.83710	0.0187	10	0.54805	T	0.06	.	13.1782	0.59639	0.0772:0.0:0.9228:0.0	.	141	Q14532	K1H2_HUMAN	A	141	ENSP00000225899:P141A	ENSP00000225899:P141A	P	-	1	0	KRT32	36876683	0.001000	0.12720	0.220000	0.23810	0.500000	0.33767	0.679000	0.25291	1.337000	0.45525	0.462000	0.41574	CCT	KRT32	-	pfam_F		0.592	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT32	HGNC	protein_coding	OTTHUMT00000257293.1	G	NM_002278		39623157	-1	no_errors	ENST00000225899	ensembl	human	known	70_37	missense	SNP	0.232	C
KRT86	3892	genome.wustl.edu	37	12	52695763	52695763	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:52695763G>C	ENST00000423955.2	+	3	241	c.63G>C	c.(61-63)cgG>cgC	p.R21R	KRT86_ENST00000293525.5_Silent_p.R21R|KRT86_ENST00000544024.1_Silent_p.R21R			O43790	KRT86_HUMAN	keratin 86	21	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGCCCCGGCCCGGCCGCT	0.667																																																	0													31.0	37.0	35.0					12																	52695763		2130	4257	6387	SO:0001819	synonymous_variant	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.63G>C	12.37:g.52695763G>C			P78387	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R21	ENST00000423955.2	37	c.63	CCDS41785.1	12																																																																																			KRT86	-	NULL		0.667	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Uniprot_genename	protein_coding	OTTHUMT00000404911.1	G	NM_002284		52695763	+1	no_errors	ENST00000293525	ensembl	human	known	70_37	silent	SNP	0.902	C
KRTAP10-4	386672	genome.wustl.edu	37	21	45994648	45994648	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:45994648C>G	ENST00000400374.3	+	1	1043	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	338	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCTTCCTCTTCATGCTGCCAG	0.652																																																	0													112.0	123.0	120.0					21																	45994648		2203	4300	6503	SO:0001587	stop_gained	386672			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.1013C>G	21.37:g.45994648C>G	ENSP00000383225:p.Ser338*		Q08AS0	Nonsense_Mutation	SNP	NULL	p.S338*	ENST00000400374.3	37	c.1013	CCDS42957.1	21	.	.	.	.	.	.	.	.	.	.	c	10.26	1.301993	0.23736	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	.	.	.	3.4	0.357	0.16079	.	.	.	.	.	.	.	.	.	.	.	0.32351	N	0.558521	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	2.1761	0.03863	0.1827:0.4849:0.2105:0.1218	.	.	.	.	X	338;134	.	ENSP00000333987:S134X	S	+	2	0	KRTAP10-4	44819076	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.800000	0.04555	-0.209000	0.10156	-0.143000	0.13931	TCA	KRTAP10-4	-	NULL		0.652	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-4	HGNC	protein_coding	OTTHUMT00000128045.1	C	NM_198687		45994648	+1	no_errors	ENST00000400374	ensembl	human	known	70_37	nonsense	SNP	0.000	G
LARP1	23367	genome.wustl.edu	37	5	154191164	154191164	+	Silent	SNP	C	C	T	rs557318389		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:154191164C>T	ENST00000336314.4	+	18	2838	c.2814C>T	c.(2812-2814)ctC>ctT	p.L938L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1015					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGAATACCTCGGCAAATTCC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		22066	0.001		0.0	False		,,,				2504	0.0																0													100.0	101.0	101.0					5																	154191164		2203	4300	6503	SO:0001819	synonymous_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2814C>T	5.37:g.154191164C>T			O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.L938	ENST00000336314.4	37	c.2814	CCDS4328.1	5																																																																																			LARP1	-	NULL		0.448	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	C	NM_033551		154191164	+1	no_errors	ENST00000336314	ensembl	human	known	70_37	silent	SNP	1.000	T
LCT	3938	genome.wustl.edu	37	2	136547286	136547286	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:136547286C>T	ENST00000264162.2	-	16	5428	c.5418G>A	c.(5416-5418)gaG>gaA	p.E1806E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1806	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GACCAAATCTCTCTGAAAAGC	0.507																																																	0													135.0	133.0	134.0					2																	136547286		2203	4300	6503	SO:0001819	synonymous_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5418G>A	2.37:g.136547286C>T			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E1806	ENST00000264162.2	37	c.5418	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	C	NM_002299		136547286	-1	no_errors	ENST00000264162	ensembl	human	known	70_37	silent	SNP	0.998	T
LENG9	94059	genome.wustl.edu	37	19	54974291	54974291	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:54974291G>A	ENST00000333834.4	-	1	603	c.485C>T	c.(484-486)tCg>tTg	p.S162L		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	162							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)	p.S140W(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GTCGGTGCGCGAGGCGCGGTC	0.751																																																	1	Substitution - Missense(1)	cervix(1)											8.0	10.0	9.0					19																	54974291		2071	4140	6211	SO:0001583	missense	94059			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.485C>T	19.37:g.54974291G>A	ENSP00000331647:p.Ser162Leu		B2VAM3	Missense_Mutation	SNP	superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH	p.S162L	ENST00000333834.4	37	c.485	CCDS12895.2	19	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206339	0.58343	.	.	ENSG00000182909	ENST00000333834	T	0.35236	1.32	3.59	3.59	0.41128	.	0.594650	0.16160	U	0.226804	T	0.52885	0.1762	M	0.78456	2.415	0.42584	D	0.993229	D	0.69078	0.997	P	0.54590	0.756	T	0.61691	-0.7011	10	0.72032	D	0.01	-21.2461	13.0983	0.59206	0.0:0.0:1.0:0.0	.	162	Q96B70	LENG9_HUMAN	L	162	ENSP00000331647:S162L	ENSP00000331647:S162L	S	-	2	0	LENG9	59666103	1.000000	0.71417	0.976000	0.42696	0.103000	0.19146	3.568000	0.53820	1.743000	0.51761	0.305000	0.20034	TCG	LENG9	-	NULL		0.751	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG9	HGNC	protein_coding	OTTHUMT00000140806.3	G	NM_198988		54974291	-1	no_errors	ENST00000333834	ensembl	human	known	70_37	missense	SNP	1.000	A
LEPR	3953	genome.wustl.edu	37	1	66036294	66036294	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:66036294C>G	ENST00000349533.6	+	4	364	c.179C>G	c.(178-180)tCg>tGg	p.S60W	LEPR_ENST00000371060.3_Missense_Mutation_p.S60W|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000371059.3_Missense_Mutation_p.S60W|LEPR_ENST00000344610.8_Missense_Mutation_p.S60W|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.S60W	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACTTCAAATTCGAATGGACAT	0.383																																																	0													123.0	121.0	122.0					1																	66036294		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.179C>G	1.37:g.66036294C>G	ENSP00000330393:p.Ser60Trp		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S60W	ENST00000349533.6	37	c.179	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934824	0.34189	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55588	0.53;0.54;0.53;0.51;0.53	5.41	-3.54	0.04653	.	2.060570	0.01789	N	0.032190	T	0.32704	0.0838	N	0.19112	0.55	0.09310	N	0.999998	D;D;D;D	0.67145	0.972;0.97;0.982;0.996	P;B;P;P	0.60415	0.662;0.404;0.723;0.874	T	0.24870	-1.0148	10	0.62326	D	0.03	3.2094	5.8506	0.18691	0.0:0.3276:0.3199:0.3525	.	60;60;60;60	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	W	60	ENSP00000340884:S60W;ENSP00000330393:S60W;ENSP00000360099:S60W;ENSP00000360098:S60W;ENSP00000360097:S60W	ENSP00000340884:S60W	S	+	2	0	LEPR	65808882	0.000000	0.05858	0.000000	0.03702	0.609000	0.37215	-0.592000	0.05747	-0.574000	0.05990	-0.501000	0.04562	TCG	LEPR	-	NULL		0.383	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	C	NM_002303		66036294	+1	no_errors	ENST00000349533	ensembl	human	known	70_37	missense	SNP	0.000	G
LGALS3BP	3959	genome.wustl.edu	37	17	76969269	76969269	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:76969269C>T	ENST00000262776.3	-	5	720	c.412G>A	c.(412-414)Gag>Aag	p.E138K	LGALS3BP_ENST00000585407.1_Missense_Mutation_p.E138K|LGALS3BP_ENST00000591778.1_Intron	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	138					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCGAGAGCTCCCTGGAGAGG	0.652																																					GBM(89;1105 1755 18102 21513)												0													11.0	12.0	11.0					17																	76969269		2196	4299	6495	SO:0001583	missense	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.412G>A	17.37:g.76969269C>T	ENSP00000262776:p.Glu138Lys		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.E138K	ENST00000262776.3	37	c.412	CCDS11759.1	17	.	.	.	.	.	.	.	.	.	.	C	1.750	-0.489570	0.04352	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.21543	2.0	2.9	1.93	0.25924	BTB/POZ fold (2);	0.000000	0.34245	N	0.004132	T	0.12646	0.0307	L	0.39898	1.24	0.09310	N	0.999991	B	0.12013	0.005	B	0.12156	0.007	T	0.30679	-0.9970	10	0.10111	T	0.7	.	5.8289	0.18568	0.0:0.8513:0.0:0.1487	.	138	Q08380	LG3BP_HUMAN	K	138;126	ENSP00000262776:E138K	ENSP00000262776:E138K	E	-	1	0	LGALS3BP	74480864	0.006000	0.16342	0.204000	0.23530	0.057000	0.15508	1.010000	0.29898	0.809000	0.34255	0.561000	0.74099	GAG	LGALS3BP	-	superfamily_BTB/POZ_fold		0.652	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	HGNC	protein_coding	OTTHUMT00000437785.3	C	NM_005567		76969269	-1	no_errors	ENST00000262776	ensembl	human	known	70_37	missense	SNP	0.245	T
LGR4	55366	genome.wustl.edu	37	11	27395587	27395587	+	Silent	SNP	C	C	T	rs149138714	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:27395587C>T	ENST00000379214.4	-	14	1631	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	LGR4_ENST00000389858.4_Silent_p.L372L	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	396					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGTTTCTACTCAGATCTCTGC	0.343																																																	0													207.0	210.0	209.0					11																	27395587		2202	4298	6500	SO:0001819	synonymous_variant	55366			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1188G>A	11.37:g.27395587C>T			A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.L396	ENST00000379214.4	37	c.1188	CCDS31449.1	11																																																																																			LGR4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.343	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR4	HGNC	protein_coding	OTTHUMT00000257467.1	C	NM_018490		27395587	-1	no_errors	ENST00000379214	ensembl	human	known	70_37	silent	SNP	1.000	T
LILRB2	10288	genome.wustl.edu	37	19	54783860	54783860	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:54783860G>C	ENST00000391749.4	-	4	412	c.141C>G	c.(139-141)ctC>ctG	p.L47L	LILRB2_ENST00000314446.5_Silent_p.L47L|LILRB2_ENST00000391746.1_Silent_p.L47L|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000391748.1_Silent_p.L47L|LILRB2_ENST00000471216.1_5'UTR|MIR4752_ENST00000579672.1_RNA	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	47	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGACAACTGAGGGTGACGG	0.532																																																	0													152.0	154.0	153.0					19																	54783860		2203	4300	6503	SO:0001819	synonymous_variant	10288			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.141C>G	19.37:g.54783860G>C			A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L47	ENST00000391749.4	37	c.141	CCDS12886.1	19																																																																																			LILRB2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.532	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	HGNC	protein_coding	OTTHUMT00000139510.1	G			54783860	-1	no_errors	ENST00000391749	ensembl	human	known	70_37	silent	SNP	0.038	C
LIMD1	8994	genome.wustl.edu	37	3	45715872	45715872	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:45715872G>C	ENST00000273317.4	+	7	1883	c.1862G>C	c.(1861-1863)aGa>aCa	p.R621T		NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	621	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Necessary for nuclear localization.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		TCCATGGACAGAGACTACCAC	0.562																																																	0													99.0	87.0	91.0					3																	45715872		2203	4300	6503	SO:0001583	missense	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1862G>C	3.37:g.45715872G>C	ENSP00000273317:p.Arg621Thr		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R621T	ENST00000273317.4	37	c.1862	CCDS2729.1	3	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651738	0.67472	.	.	ENSG00000144791	ENST00000273317	D	0.87491	-2.26	5.71	4.65	0.58169	Zinc finger, LIM-type (4);	0.114106	0.64402	D	0.000013	D	0.91036	0.7180	M	0.88031	2.925	0.40839	D	0.983653	D	0.56035	0.974	P	0.55508	0.777	D	0.90409	0.4408	10	0.42905	T	0.14	.	6.5998	0.22695	0.2503:0.0:0.7497:0.0	.	621	Q9UGP4	LIMD1_HUMAN	T	621	ENSP00000273317:R621T	ENSP00000273317:R621T	R	+	2	0	LIMD1	45690876	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.615000	0.54167	2.709000	0.92574	0.655000	0.94253	AGA	LIMD1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.562	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	G	NM_014240		45715872	+1	no_errors	ENST00000273317	ensembl	human	known	70_37	missense	SNP	1.000	C
LIMK1	3984	genome.wustl.edu	37	7	73500115	73500115	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:73500115G>A	ENST00000336180.2	+	2	144	c.93G>A	c.(91-93)agG>agA	p.R31R	LIMK1_ENST00000418310.1_Silent_p.R61R	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	31	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GCGGCCAGAGGATCTATGATG	0.612																																																	0													77.0	53.0	61.0					7																	73500115		2186	4276	6462	SO:0001819	synonymous_variant	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.93G>A	7.37:g.73500115G>A			B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R31	ENST00000336180.2	37	c.93	CCDS5563.1	7																																																																																			LIMK1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.612	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	G	NM_002314		73500115	+1	no_errors	ENST00000336180	ensembl	human	known	70_37	silent	SNP	0.998	A
LINC00471	151477	genome.wustl.edu	37	2	232373658	232373658	+	RNA	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:232373658C>T	ENST00000313064.2	-	0	760					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471																		TGACTAGGGTCAGGTAGAAAG	0.443																																																	0																																												151477			BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232373658C>T				RNA	SNP	-	NULL	ENST00000313064.2	37	NULL		2																																																																																			LINC00471	-	-		0.443	LINC00471-001	KNOWN	basic	processed_transcript	LINC00471	HGNC	processed_transcript	OTTHUMT00000256963.2	C	NM_173513		232373658	-1	no_errors	ENST00000313064	ensembl	human	known	70_37	rna	SNP	0.001	T
COMMD9	29099	genome.wustl.edu	37	11	36293275	36293275	+	IGR	SNP	C	C	T	rs7107490	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:36293275C>T	ENST00000263401.5	-	0	1745				LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000533308.1_5'Flank	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9											kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				ATTTTCTCATCTTCTTCCCAA	0.507																																																	0													85.0	75.0	78.0					11																	36293275		2202	4298	6500	SO:0001628	intergenic_variant	399879			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333		11.37:g.36293275C>T			E9PAN2|Q96FI2|Q9H0R0	RNA	SNP	-	NULL	ENST00000263401.5	37	NULL	CCDS7900.1	11	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609615	0.28623	.	.	ENSG00000196559	ENST00000355500	.	.	.	1.82	-0.109	0.13584	.	.	.	.	.	T	0.36991	0.0987	.	.	.	.	.	.	.	.	.	.	.	.	T	0.46707	-0.9172	4	0.87932	D	0	.	3.0987	0.06318	0.0:0.5294:0.2883:0.1823	.	.	.	.	N	28	.	ENSP00000347687:D28N	D	-	1	0	C11orf55	36249851	0.000000	0.05858	0.000000	0.03702	0.281000	0.26958	-1.686000	0.01929	-0.025000	0.13918	-0.380000	0.06706	GAT	LINC00610	-	-		0.507	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINC00610	HGNC	protein_coding	OTTHUMT00000389196.1	C	NM_014186		36293275	-1	no_errors	ENST00000355500	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00665	100506930	genome.wustl.edu	37	19	36821288	36821288	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:36821288C>G	ENST00000591372.1	-	0	309				AC092296.1_ENST00000410798.1_RNA					long intergenic non-protein coding RNA 665																		gtggcactcccccctacaagc	0.602																																																	0																																												100506930			AI282277, BC041949, BU071001		19q13.12	2012-10-12			ENSG00000232677	ENSG00000232677		"""Long non-coding RNAs"""	44323	non-coding RNA	RNA, long non-coding							Standard	NR_038278		Approved		uc002odu.2		OTTHUMG00000048145		19.37:g.36821288C>G				RNA	SNP	-	NULL	ENST00000591372.1	37	NULL		19																																																																																			LINC00665	-	-		0.602	LINC00665-003	KNOWN	basic	lincRNA	LINC00665	HGNC	lincRNA	OTTHUMT00000109550.2	C	NR_038278		36821288	-1	no_errors	ENST00000412740	ensembl	human	known	70_37	rna	SNP	0.220	G
LIPG	9388	genome.wustl.edu	37	18	47093845	47093845	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:47093845C>G	ENST00000261292.4	+	3	591	c.313C>G	c.(313-315)Ctc>Gtc	p.L105V	LIPG_ENST00000577628.1_Missense_Mutation_p.L141V|LIPG_ENST00000580036.1_Missense_Mutation_p.L105V|LIPG_ENST00000427224.2_Missense_Mutation_p.L105V	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	105					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCTGCACAAACTCGTGTCAGC	0.448																																					Pancreas(126;280 1778 12814 26243 34948)												0													80.0	69.0	73.0					18																	47093845		2203	4300	6503	SO:0001583	missense	9388			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.313C>G	18.37:g.47093845C>G	ENSP00000261292:p.Leu105Val		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep	p.L105V	ENST00000261292.4	37	c.313	CCDS11938.1	18	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994377	0.54041	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.91843	-2.92;-2.92	5.13	5.13	0.70059	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93936	0.8059	L	0.55990	1.75	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.93749	0.7057	10	0.87932	D	0	-21.6868	9.0858	0.36581	0.0:0.831:0.0:0.169	.	105;105;105	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	V	105	ENSP00000261292:L105V;ENSP00000387978:L105V	ENSP00000261292:L105V	L	+	1	0	LIPG	45347843	1.000000	0.71417	0.990000	0.47175	0.287000	0.27160	2.178000	0.42519	2.396000	0.81511	0.561000	0.74099	CTC	LIPG	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipo_Lipase		0.448	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPG	HGNC	protein_coding	OTTHUMT00000447546.1	C	NM_006033		47093845	+1	no_errors	ENST00000261292	ensembl	human	known	70_37	missense	SNP	1.000	G
LIX1	167410	genome.wustl.edu	37	5	96443085	96443085	+	Silent	SNP	C	C	T	rs373855407		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:96443085C>T	ENST00000274382.4	-	3	661	c.366G>A	c.(364-366)caG>caA	p.Q122Q	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	122										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		CTACTGCTTCCTGAACACTTT	0.512																																																	0								C		0,4406		0,0,2203	106.0	100.0	102.0		366	3.2	1.0	5		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LIX1	NM_153234.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		122/283	96443085	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	167410				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.366G>A	5.37:g.96443085C>T			A8K4R9|Q8N7I2	Silent	SNP	NULL	p.Q122	ENST00000274382.4	37	c.366	CCDS4088.1	5																																																																																			LIX1	-	NULL		0.512	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1	HGNC	protein_coding	OTTHUMT00000250625.1	C	NM_153234		96443085	-1	no_errors	ENST00000274382	ensembl	human	known	70_37	silent	SNP	1.000	T
LLGL2	3993	genome.wustl.edu	37	17	73559502	73559502	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:73559502G>A	ENST00000392550.3	+	8	901	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	LLGL2_ENST00000577200.1_Missense_Mutation_p.E262K|LLGL2_ENST00000375227.4_Missense_Mutation_p.E262K|LLGL2_ENST00000578363.1_Missense_Mutation_p.E262K|LLGL2_ENST00000167462.5_Missense_Mutation_p.E262K	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	262					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGTGTCCAGCGAAGCCCAGCA	0.657																																																	0													40.0	40.0	40.0					17																	73559502		2202	4298	6500	SO:0001583	missense	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.784G>A	17.37:g.73559502G>A	ENSP00000376333:p.Glu262Lys		Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.E262K	ENST00000392550.3	37	c.784	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601326	0.28534	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.30714	1.58;1.58;1.52	5.56	3.55	0.40652	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.412070	0.30003	N	0.010649	T	0.27063	0.0663	L	0.54323	1.7	0.34918	D	0.748123	B;B;B;B;B	0.16396	0.01;0.017;0.012;0.003;0.005	B;B;B;B;B	0.13407	0.003;0.007;0.009;0.001;0.005	T	0.25572	-1.0128	10	0.19147	T	0.46	-0.3829	11.2935	0.49265	0.0686:0.1274:0.8039:0.0	.	251;251;262;262;262	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	K	262;262;262;251	ENSP00000167462:E262K;ENSP00000376333:E262K;ENSP00000364375:E262K	ENSP00000167462:E262K	E	+	1	0	LLGL2	71071097	0.988000	0.35896	0.020000	0.16555	0.226000	0.24999	3.051000	0.49885	0.696000	0.31696	0.561000	0.74099	GAA	LLGL2	-	superfamily_WD40_repeat_dom		0.657	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	G	NM_004524		73559502	+1	no_errors	ENST00000392550	ensembl	human	known	70_37	missense	SNP	0.725	A
LMCD1	29995	genome.wustl.edu	37	3	8590398	8590398	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:8590398G>C	ENST00000157600.3	+	4	764	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	LMCD1_ENST00000454244.1_Missense_Mutation_p.E105Q|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Missense_Mutation_p.E66Q|LMCD1_ENST00000535732.1_Missense_Mutation_p.E178Q	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	178	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TTTGGAGAATGAGTTGAAACT	0.592																																																	0													119.0	127.0	124.0					3																	8590398		2203	4300	6503	SO:0001583	missense	29995			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.532G>C	3.37:g.8590398G>C	ENSP00000157600:p.Glu178Gln		B4DG80	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E178Q	ENST00000157600.3	37	c.532	CCDS33688.1	3	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883244	0.72410	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732;ENST00000454244;ENST00000397386;ENST00000426878	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	5.75	5.75	0.90469	PET domain (2);	0.000000	0.64402	D	0.000001	D	0.95294	0.8473	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.95038	0.8175	10	0.52906	T	0.07	-40.4453	18.5236	0.90963	0.0:0.0:1.0:0.0	.	178;66;178	F5GX84;B4DEY6;Q9NZU5	.;.;LMCD1_HUMAN	Q	178;184;178;105;66;135	ENSP00000157600:E178Q;ENSP00000400555:E184Q;ENSP00000441100:E178Q;ENSP00000396515:E105Q;ENSP00000380542:E66Q;ENSP00000411222:E135Q	ENSP00000157600:E178Q	E	+	1	0	LMCD1	8565398	1.000000	0.71417	0.917000	0.36280	0.185000	0.23345	8.673000	0.91186	2.716000	0.92895	0.655000	0.94253	GAG	LMCD1	-	pfam_PET_domain		0.592	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMCD1	HGNC	protein_coding	OTTHUMT00000337854.1	G	NM_014583		8590398	+1	no_errors	ENST00000157600	ensembl	human	known	70_37	missense	SNP	1.000	C
LMNB2	84823	genome.wustl.edu	37	19	2434313	2434313	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:2434313G>A	ENST00000582871.1	-	7	1208	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Silent_p.L394L	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	374	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCTCCAGGAGCTTCCGGT	0.682																																																	0													52.0	40.0	44.0					19																	2434313		2203	4299	6502	SO:0001819	synonymous_variant	84823			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1122C>T	19.37:g.2434313G>A			O75292|Q14734|Q96DF6	Silent	SNP	pfam_F,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.L394	ENST00000582871.1	37	c.1182		19																																																																																			LMNB2	-	pfam_F		0.682	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		G	NM_032737		2434313	-1	no_errors	ENST00000325327	ensembl	human	known	70_37	silent	SNP	0.876	A
NINJ2	4815	genome.wustl.edu	37	12	752874	752874	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:752874C>T	ENST00000305108.4	-	1	452				RP11-218M22.1_ENST00000543884.1_RNA|RP11-218M22.1_ENST00000537514.1_RNA|RP11-218M22.1_ENST00000318291.4_RNA|NINJ2_ENST00000433832.2_5'Flank|NINJ2_ENST00000542920.1_5'Flank|NINJ2_ENST00000537416.1_5'Flank	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2						nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246)	integral component of plasma membrane (GO:0005887)				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			AGTCTGCCATCAGCCAAGAGG	0.552																																																	0																																										SO:0001627	intron_variant	100049716			AF205633	CCDS8505.1, CCDS73418.1	12p13	2008-08-05			ENSG00000171840	ENSG00000171840			7825	protein-coding gene	gene with protein product		607297				10627596	Standard	XM_005253689		Approved		uc001qil.3	Q9NZG7	OTTHUMG00000090311	ENST00000305108.4:c.171+19619G>A	12.37:g.752874C>T				RNA	SNP	-	NULL	ENST00000305108.4	37	NULL	CCDS8505.1	12																																																																																			RP11-218M22.1	-	-		0.552	NINJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100049716	Clone_based_vega_gene	protein_coding	OTTHUMT00000206673.2	C	NM_016533		752874	+1	no_errors	ENST00000318291	ensembl	human	known	70_37	rna	SNP	0.001	T
LINC00894	100272228	genome.wustl.edu	37	X	149114055	149114055	+	RNA	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:149114055C>T	ENST00000449111.1	+	0	969				LINC00894_ENST00000452864.1_RNA|LINC00894_ENST00000425602.1_RNA|LINC00894_ENST00000444489.1_RNA|LINC00894_ENST00000450989.1_RNA|LINC00894_ENST00000432696.1_RNA					long intergenic non-protein coding RNA 894																		TCGAGGGTGTCATCGCTTTCC	0.632																																																	0																																												100272228					Xq28	2013-05-17			ENSG00000235703	ENSG00000235703		"""Long non-coding RNAs"""	48579	non-coding RNA	RNA, long non-coding							Standard	NR_027456		Approved				OTTHUMG00000022638		X.37:g.149114055C>T				RNA	SNP	-	NULL	ENST00000449111.1	37	NULL		X																																																																																			RP13-507I23.1	-	-		0.632	LINC00894-001	KNOWN	basic	antisense	LOC100272228	Clone_based_vega_gene	antisense	OTTHUMT00000058733.2	C			149114055	+1	no_errors	ENST00000450989	ensembl	human	known	70_37	rna	SNP	0.000	T
LDLRAD4	753	genome.wustl.edu	37	18	13423629	13423629	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:13423629C>G	ENST00000359446.5	+	3	508				LDLRAD4-AS1_ENST00000588672.1_RNA|LDLRAD4_ENST00000361205.4_Intron|LDLRAD4_ENST00000399848.3_Intron	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4						negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										ATTTGTGCTTCTAGCTGCTGA	0.507																																																	0																																										SO:0001627	intron_variant	100288122			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.41-14614C>G	18.37:g.13423629C>G			B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	RNA	SNP	-	NULL	ENST00000359446.5	37	NULL	CCDS32793.1	18																																																																																			RP11-691H4.1	-	-		0.507	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100288122	Clone_based_vega_gene	protein_coding	OTTHUMT00000458326.1	C	NM_181481		13423629	-1	no_errors	ENST00000588672	ensembl	human	known	70_37	rna	SNP	0.002	G
LOC105374250	105374250	genome.wustl.edu	37	3	184144484	184144484	+	Silent	SNP	T	T	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:184144484T>C	ENST00000419960.1	+	2	161	c.147T>C	c.(145-147)ccT>ccC	p.P49P	EIF2B5_ENST00000444495.1_Intron|RP11-433C9.2_ENST00000478780.1_3'UTR																							TGGACCTCCCTGGAGACCAAA	0.577																																																	0																																										SO:0001819	synonymous_variant	100508383																														ENST00000419960.1:c.147T>C	3.37:g.184144484T>C				Silent	SNP	NULL	p.P49	ENST00000419960.1	37	c.147		3																																																																																			RP11-433C9.2	-	NULL		0.577	RP11-433C9.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC100508383	Clone_based_vega_gene	protein_coding	OTTHUMT00000345502.2	T			184144484	+1	no_errors	ENST00000419960	ensembl	human	putative	70_37	silent	SNP	0.000	C
RP11-585F1.10	0	genome.wustl.edu	37	8	142257	142257	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:142257G>T	ENST00000523795.2	-	2	213	c.184C>A	c.(184-186)Cca>Aca	p.P62T																								TTGAATCCTGGATGCTTTATT	0.289																																																	0																																										SO:0001583	missense	101060626																														ENST00000523795.2:c.184C>A	8.37:g.142257G>T	ENSP00000431198:p.Pro62Thr			Missense_Mutation	SNP	NULL	p.P62T	ENST00000523795.2	37	c.184		8	.	.	.	.	.	.	.	.	.	.	.	4.577	0.107117	0.08780	.	.	ENSG00000250210	ENST00000523795	.	.	.	0.51	0.51	0.16983	.	.	.	.	.	T	0.55800	0.1943	.	.	.	.	.	.	.	.	.	.	.	.	T	0.66578	-0.5888	3	0.87932	D	0	.	.	.	.	.	.	.	.	T	62	.	ENSP00000431198:P62T	P	-	1	0	RP11-585F1.10	132257	0.001000	0.12720	0.031000	0.17742	0.050000	0.14768	0.389000	0.20751	0.557000	0.29117	0.175000	0.17021	CCA	RP11-585F1.10	-	NULL		0.289	RP11-585F1.10-001	KNOWN	basic|appris_principal	protein_coding	LOC101060626	Clone_based_vega_gene	protein_coding	OTTHUMT00000384562.1	G			142257	-1	no_errors	ENST00000523795	ensembl	human	known	70_37	missense	SNP	0.046	T
LOC284788	284788	genome.wustl.edu	37	20	22381413	22381413	+	lincRNA	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:22381413G>T	ENST00000377121.1	-	0	1241					NR_027089.1																						GATGCACACAGAGGTGCGTTT	0.453																																																	0																																												284788																															20.37:g.22381413G>T				RNA	SNP	-	NULL	ENST00000377121.1	37	NULL		20																																																																																			RP5-1004I9.1	-	-		0.453	RP5-1004I9.1-001	KNOWN	basic	lincRNA	LOC284788	Clone_based_vega_gene	lincRNA	OTTHUMT00000078288.2	G			22381413	-1	no_errors	ENST00000377121	ensembl	human	known	70_37	rna	SNP	0.000	T
GOLGA2P9	440518	genome.wustl.edu	37	19	22782543	22782543	+	RNA	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:22782543G>C	ENST00000600260.1	+	0	424				AC011467.1_ENST00000408863.1_RNA|RN7SL860P_ENST00000473738.2_RNA	NR_033899.1																						AGTGTATTATGAATCGGTTAC	0.557																																																	0																																												440518																															19.37:g.22782543G>C				RNA	SNP	-	NULL	ENST00000600260.1	37	NULL		19																																																																																			CTC-457E21.3	-	-		0.557	CTC-457E21.3-001	KNOWN	basic	processed_transcript	LOC440518	Clone_based_vega_gene	pseudogene	OTTHUMT00000464572.1	G			22782543	+1	no_errors	ENST00000600260	ensembl	human	known	70_37	rna	SNP	0.006	C
LOC101929232	101929232	genome.wustl.edu	37	15	29061903	29061903	+	IGR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:29061903C>G								RP11-578F21.12 (8459 upstream) : GOLGA6L7P (28203 downstream)																							AACAAGGTCTCACATCAGGAA	0.264																																																	0																																										SO:0001628	intergenic_variant	646278																															15.37:g.29061903C>G				RNA	SNP	-	NULL		37	NULL		15																																																																																			RP11-578F21.12	-	-	0	0.264					LOC646278	Clone_based_vega_gene			C			29061903	+1	no_errors	ENST00000563202	ensembl	human	putative	70_37	rna	SNP	1.000	G
LPCAT3	10162	genome.wustl.edu	37	12	7086371	7086371	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:7086371G>A	ENST00000261407.4	-	12	1486	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	467					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAGGCAATATGAATAGTAGGC	0.403																																																	0													86.0	88.0	87.0					12																	7086371		2203	4300	6503	SO:0001819	synonymous_variant	10162			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1401C>T	12.37:g.7086371G>A			B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Silent	SNP	pfam_MBOAT_fam	p.F467	ENST00000261407.4	37	c.1401	CCDS8572.1	12																																																																																			LPCAT3	-	NULL		0.403	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT3	HGNC	protein_coding	OTTHUMT00000401812.1	G	NM_005768		7086371	-1	no_errors	ENST00000261407	ensembl	human	known	70_37	silent	SNP	0.038	A
LPGAT1	9926	genome.wustl.edu	37	1	211966659	211966659	+	Intron	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:211966659G>C	ENST00000366997.4	-	3	465				LPGAT1_ENST00000366996.1_Intron|RN7SL344P_ENST00000485522.2_RNA	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		CGAAAGTTTAGAACTAAGTTT	0.219																																																	0																																										SO:0001627	intron_variant	9926			D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.239-127C>G	1.37:g.211966659G>C			Q53YL2	RNA	SNP	-	NULL	ENST00000366997.4	37	NULL	CCDS31018.1	1																																																																																			LPGAT1	-	-		0.219	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPGAT1	HGNC	protein_coding	OTTHUMT00000090150.1	G	NM_014873		211966659	-1	no_errors	ENST00000498690	ensembl	human	putative	70_37	rna	SNP	0.001	C
LPHN1	22859	genome.wustl.edu	37	19	14266174	14266174	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:14266174C>T	ENST00000340736.6	-	19	3603	c.3306G>A	c.(3304-3306)aaG>aaA	p.K1102K	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.K1097K|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1102					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCTCACCTTCTTCTGTAAGG	0.592																																																	0													141.0	135.0	137.0					19																	14266174		2203	4300	6503	SO:0001819	synonymous_variant	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3306G>A	19.37:g.14266174C>T			Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.K1102	ENST00000340736.6	37	c.3306	CCDS32928.1	19																																																																																			LPHN1	-	prints_GPCR_2_latrophilin		0.592	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	C	NM_014921		14266174	-1	no_errors	ENST00000340736	ensembl	human	known	70_37	silent	SNP	1.000	T
LPHN2	23266	genome.wustl.edu	37	1	82372833	82372833	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:82372833G>A	ENST00000370728.1	+	6	850	c.205G>A	c.(205-207)Gac>Aac	p.D69N	LPHN2_ENST00000370721.1_Missense_Mutation_p.D69N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D69N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D69N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D69N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D69N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D69N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D69N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D69N|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.D69N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D69N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D69N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D69N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D69N			O95490	LPHN2_HUMAN	latrophilin 2	69	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCGGACGGATGACAAGATTTG	0.443																																																	0													173.0	158.0	163.0					1																	82372833		2203	4300	6503	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.205G>A	1.37:g.82372833G>A	ENSP00000359763:p.Asp69Asn		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D69N	ENST00000370728.1	37	c.205		1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000535	0.93227	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.1	4.19	0.49359	.	0.054132	0.64402	N	0.000001	T	0.13543	0.0328	N	0.13327	0.33	0.58432	D	0.999999	P;P;D;P	0.56287	0.773;0.856;0.975;0.824	P;P;D;D	0.65684	0.679;0.538;0.937;0.916	T	0.10474	-1.0628	10	0.49607	T	0.09	.	13.5144	0.61533	0.0756:0.0:0.9244:0.0	.	69;69;69;69	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	N	69	ENSP00000359756:D69N;ENSP00000359763:D69N;ENSP00000359765:D69N;ENSP00000359762:D69N;ENSP00000359760:D69N;ENSP00000359758:D69N;ENSP00000353006:D69N;ENSP00000359750:D69N;ENSP00000359748:D69N;ENSP00000322270:D69N;ENSP00000359752:D69N;ENSP00000378344:D69N;ENSP00000271029:D69N;ENSP00000337306:D69N	ENSP00000271029:D69N	D	+	1	0	LPHN2	82145421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.695000	0.98691	1.276000	0.44395	0.557000	0.71058	GAC	LPHN2	-	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom		0.443	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	G	NM_012302		82372833	+1	no_errors	ENST00000370717	ensembl	human	known	70_37	missense	SNP	1.000	A
LRP2	4036	genome.wustl.edu	37	2	170097642	170097642	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:170097642C>T	ENST00000263816.3	-	25	4186	c.3901G>A	c.(3901-3903)Gat>Aat	p.D1301N	LRP2_ENST00000443831.1_Missense_Mutation_p.D1164N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1301	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"""	TCCTTCTCATCACTCATATCC	0.512																																																	0													208.0	156.0	173.0					2																	170097642		2203	4300	6503	SO:0001583	missense	4036				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.3901G>A	2.37:g.170097642C>T	ENSP00000263816:p.Asp1301Asn		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_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D1301N	ENST00000263816.3	37	c.3901	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.398494	0.96030	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.99214	-5.57;-5.57	5.92	5.92	0.95590	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97317	0.9941	10	0.59425	D	0.04	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	1164;1301	E9PC35;P98164	.;LRP2_HUMAN	N	1301;1164	ENSP00000263816:D1301N;ENSP00000409813:D1164N	ENSP00000263816:D1301N	D	-	1	0	LRP2	169805888	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.770000	0.85390	2.801000	0.96364	0.650000	0.86243	GAT	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170097642	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC23	10233	genome.wustl.edu	37	12	7022060	7022060	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:7022060G>A	ENST00000007969.8	+	7	1145	c.925G>A	c.(925-927)Gag>Aag	p.E309K	ENO2_ENST00000229277.1_5'Flank|ENO2_ENST00000541477.1_5'Flank|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Intron|ENO2_ENST00000535366.1_5'Flank|ENO2_ENST00000545045.2_5'Flank|ENO2_ENST00000538763.1_5'Flank|LRRC23_ENST00000443597.2_Missense_Mutation_p.E309K|ENO2_ENST00000544774.1_5'Flank|LRRC23_ENST00000436789.1_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	309	LRRCT.									NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						ATTCTATGAGGAGGAGGAACG	0.567																																																	0													149.0	147.0	148.0					12																	7022060		2203	4300	6503	SO:0001583	missense	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.925G>A	12.37:g.7022060G>A	ENSP00000007969:p.Glu309Lys		A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	pfam_Leu-rich_rpt	p.E309K	ENST00000007969.8	37	c.925	CCDS8569.1	12	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417312	0.42918	.	.	ENSG00000010626	ENST00000007969;ENST00000443597	T;T	0.53640	0.61;0.61	5.27	5.27	0.74061	.	.	.	.	.	T	0.40979	0.1139	L	0.52364	1.645	0.80722	D	1	P;P	0.39282	0.666;0.666	B;B	0.32149	0.141;0.141	T	0.35001	-0.9806	9	0.35671	T	0.21	-19.4508	16.3056	0.82846	0.0:0.1321:0.8679:0.0	.	309;309	A8K8K2;Q53EV4	.;LRC23_HUMAN	K	309	ENSP00000007969:E309K;ENSP00000390932:E309K	ENSP00000007969:E309K	E	+	1	0	LRRC23	6892321	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	1.710000	0.37920	2.597000	0.87782	0.555000	0.69702	GAG	LRRC23	-	NULL		0.567	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC23	HGNC	protein_coding	OTTHUMT00000345214.1	G	NM_006992		7022060	+1	no_errors	ENST00000007969	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC25	126364	genome.wustl.edu	37	19	18507683	18507683	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:18507683C>T	ENST00000339007.3	-	1	744	c.91G>A	c.(91-93)Gat>Aat	p.D31N	LRRC25_ENST00000595840.1_Missense_Mutation_p.D31N	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	31						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						CAGTCCACATCCGCGGAGGAC	0.627																																																	0													62.0	48.0	53.0					19																	18507683		2203	4300	6503	SO:0001583	missense	126364			AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.91G>A	19.37:g.18507683C>T	ENSP00000340983:p.Asp31Asn		Q6IQ00|Q8N9A5	Missense_Mutation	SNP	NULL	p.D31N	ENST00000339007.3	37	c.91	CCDS12377.1	19	.	.	.	.	.	.	.	.	.	.	C	2.363	-0.346058	0.05208	.	.	ENSG00000175489	ENST00000339007	T	0.33438	1.41	3.68	-7.37	0.01412	.	3.056560	0.01060	N	0.004639	T	0.12135	0.0295	N	0.20685	0.6	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.34153	-0.9840	10	0.02654	T	1	0.234	0.4858	0.00555	0.2428:0.1422:0.2411:0.3739	.	31	Q8N386	LRC25_HUMAN	N	31	ENSP00000340983:D31N	ENSP00000340983:D31N	D	-	1	0	LRRC25	18368683	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.677000	0.01944	-1.679000	0.01452	0.491000	0.48974	GAT	LRRC25	-	NULL		0.627	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC25	HGNC	protein_coding	OTTHUMT00000466342.1	C	NM_145256		18507683	-1	no_errors	ENST00000339007	ensembl	human	known	70_37	missense	SNP	0.000	T
LRRC34	151827	genome.wustl.edu	37	3	169514687	169514687	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:169514687C>T	ENST00000316515.7	-	7	895	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	LRRC34_ENST00000522830.1_Splice_Site_p.E191K|LRRC34_ENST00000446859.1_Splice_Site_p.E252K|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000524327.1_5'UTR|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522526.2_Splice_Site_p.E220K	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	207										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTAGACTCTTCCTAAAAGTGG	0.294																																																	0													80.0	78.0	78.0					3																	169514687		2203	4300	6503	SO:0001630	splice_region_variant	151827			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.619-1G>A	3.37:g.169514687C>T			B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E252K	ENST00000316515.7	37	c.754		3	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937135	0.92458	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526;ENST00000528597	T;T;T;T;T	0.75260	0.57;0.63;0.57;0.63;-0.92	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.87168	0.6110	M	0.77486	2.375	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.952;1.0;1.0;1.0	D;P;D;D;D	0.83275	0.965;0.683;0.983;0.987;0.996	D	0.86408	0.1746	10	0.49607	T	0.09	-24.6827	20.0349	0.97554	0.0:1.0:0.0:0.0	.	239;191;191;252;207	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	K	252;207;191;220;1	ENSP00000414635:E252K;ENSP00000326150:E207K;ENSP00000429593:E191K;ENSP00000429278:E220K;ENSP00000436883:E1K	ENSP00000326150:E207K	E	-	1	0	LRRC34	170997381	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	6.143000	0.71756	2.744000	0.94065	0.650000	0.86243	GAA	LRRC34	-	NULL		0.294	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding		C	NM_153353	Missense_Mutation	169514687	-1	no_errors	ENST00000446859	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC41	10489	genome.wustl.edu	37	1	46746968	46746968	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:46746968C>T	ENST00000343304.6	-	5	1870	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	529					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGAACAGGTCACTGAGATGC	0.612																																																	0													77.0	63.0	68.0					1																	46746968		2203	4300	6503	SO:0001583	missense	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1585G>A	1.37:g.46746968C>T	ENSP00000343298:p.Asp529Asn		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D529N	ENST00000343304.6	37	c.1585	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.141762	0.94560	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.51817	0.69	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	L	0.27053	0.805	0.46499	D	0.999072	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.57142	-0.7862	10	0.39692	T	0.17	-14.3396	19.2258	0.93817	0.0:1.0:0.0:0.0	.	529;529	Q15345-3;Q15345	.;LRC41_HUMAN	N	529;507	ENSP00000343298:D529N	ENSP00000343298:D529N	D	-	1	0	LRRC41	46519555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.098000	0.64548	2.548000	0.85928	0.557000	0.71058	GAC	LRRC41	-	NULL		0.612	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	C	NM_006369		46746968	-1	no_errors	ENST00000343304	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC49	54839	genome.wustl.edu	37	15	71211448	71211448	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:71211448G>C	ENST00000260382.5	+	7	887	c.627G>C	c.(625-627)agG>agC	p.R209S	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.R199S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.R214S|LRRC49_ENST00000443425.2_Missense_Mutation_p.R165S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	209						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATCTTGCCAGGAACTTTTTAA	0.328																																																	0													119.0	123.0	122.0					15																	71211448		2199	4297	6496	SO:0001583	missense	54839				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.627G>C	15.37:g.71211448G>C	ENSP00000260382:p.Arg209Ser		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R209S	ENST00000260382.5	37	c.627	CCDS32282.1	15	.	.	.	.	.	.	.	.	.	.	G	9.009	0.982031	0.18812	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.53423	0.62;0.62;0.62	5.48	-1.45	0.08828	.	0.049579	0.85682	D	0.000000	T	0.25644	0.0624	N	0.11651	0.15	0.39108	D	0.961421	B;B;B;B;B	0.30870	0.225;0.298;0.202;0.256;0.257	B;B;B;B;B	0.39379	0.095;0.181;0.074;0.298;0.065	T	0.03829	-1.1000	10	0.21540	T	0.41	-19.7807	6.2328	0.20744	0.4279:0.1283:0.4439:0.0	.	214;181;165;209;199	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	S	199;209;165;181	ENSP00000439600:R199S;ENSP00000260382:R209S;ENSP00000414065:R165S	ENSP00000260382:R209S	R	+	3	2	LRRC49	68998502	1.000000	0.71417	0.993000	0.49108	0.187000	0.23431	0.466000	0.22019	-0.102000	0.12197	-1.000000	0.02509	AGG	LRRC49	-	smart_Leu-rich_rpt_typical-subtyp		0.328	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	HGNC	protein_coding	OTTHUMT00000417209.3	G	NM_017691		71211448	+1	no_errors	ENST00000260382	ensembl	human	known	70_37	missense	SNP	0.981	C
LRRC4B	94030	genome.wustl.edu	37	19	51022460	51022460	+	Silent	SNP	G	G	A	rs138901834		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:51022460G>A	ENST00000599957.1	-	3	707	c.510C>T	c.(508-510)atC>atT	p.I170I	LRRC4B_ENST00000389201.3_Silent_p.I170I			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	170					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I170I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGATGCTCTCGATGGGGTTGT	0.652																																																	1	Substitution - coding silent(1)	skin(1)											59.0	64.0	62.0					19																	51022460		2203	4300	6503	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.510C>T	19.37:g.51022460G>A			Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I170	ENST00000599957.1	37	c.510	CCDS42595.1	19																																																																																			LRRC4B	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	G	NM_001080457		51022460	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	silent	SNP	1.000	A
LRRC8C	84230	genome.wustl.edu	37	1	90152110	90152110	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:90152110G>C	ENST00000370454.4	+	2	333	c.78G>C	c.(76-78)gtG>gtC	p.V26V	LRRC8C_ENST00000479252.1_3'UTR|RP11-302M6.4_ENST00000370453.5_Silent_p.V26V	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	26					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)		GGTGGGATGTGTTTACCGATT	0.512																																																	0													167.0	150.0	156.0					1																	90152110		2203	4300	6503	SO:0001819	synonymous_variant	84230				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.78G>C	1.37:g.90152110G>C			B3KXS9|Q29RV6|Q9H075	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V26	ENST00000370454.4	37	c.78	CCDS725.1	1																																																																																			LRRC8C	-	pfam_LRR_protein-8_N		0.512	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	HGNC	protein_coding	OTTHUMT00000028435.2	G	NM_032270		90152110	+1	no_errors	ENST00000370454	ensembl	human	known	70_37	silent	SNP	1.000	C
LRTM2	654429	genome.wustl.edu	37	12	1940449	1940449	+	Missense_Mutation	SNP	C	C	T	rs527284344		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:1940449C>T	ENST00000543818.1	+	4	1258	c.416C>T	c.(415-417)tCg>tTg	p.S139L	LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.S139L|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.S139L|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652																																																	0													45.0	51.0	49.0					12																	1940449		2203	4300	6503	SO:0001583	missense	654429			AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.416C>T	12.37:g.1940449C>T	ENSP00000446278:p.Ser139Leu		A7E2U6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S139L	ENST00000543818.1	37	c.416	CCDS31726.1	12	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.334890	0.01287	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.31510	1.49;1.49;1.49	5.25	1.24	0.21308	.	0.910058	0.09609	N	0.779217	T	0.05686	0.0149	N	0.00205	-1.85	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36696	-0.9737	10	0.02654	T	1	.	5.421	0.16400	0.0:0.5651:0.1339:0.301	.	139	Q8N967	LRTM2_HUMAN	L	139	ENSP00000446278:S139L;ENSP00000299194:S139L;ENSP00000444737:S139L	ENSP00000299194:S139L	S	+	2	0	LRTM2	1810710	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	1.097000	0.30988	-0.041000	0.13558	0.561000	0.74099	TCG	LRTM2	-	NULL		0.652	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	C			1940449	+1	no_errors	ENST00000299194	ensembl	human	known	70_37	missense	SNP	0.000	T
ANAPC15	25906	genome.wustl.edu	37	11	71819761	71819761	+	IGR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:71819761G>A	ENST00000227618.4	-	0	886				LRTOMT_ENST00000419228.1_Silent_p.L182L|LRTOMT_ENST00000439209.1_3'UTR|ANAPC15_ENST00000502597.2_Intron|LRTOMT_ENST00000307198.7_Silent_p.L222L|ANAPC15_ENST00000543050.1_Intron|ANAPC15_ENST00000543015.1_5'Flank|LRTOMT_ENST00000435085.1_Silent_p.L222L	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15						mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											GATGTTACCTGAGGGACCTGC	0.642																																																	0													53.0	51.0	51.0					11																	71819761		692	1591	2283	SO:0001628	intergenic_variant	220074			AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"""Anaphase promoting complex subunits"""	24531	protein-coding gene	gene with protein product		614717	"""chromosome 11 open reading frame 51"""	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865		11.37:g.71819761G>A			G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	pfam_O-MeTrfase_3	p.L222	ENST00000227618.4	37	c.666	CCDS8210.1	11																																																																																			LRTOMT	-	pfam_O-MeTrfase_3		0.642	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRTOMT	HGNC	protein_coding	OTTHUMT00000396695.1	G	NM_014042		71819761	+1	no_errors	ENST00000307198	ensembl	human	known	70_37	silent	SNP	0.990	A
LUC7L3	51747	genome.wustl.edu	37	17	48828531	48828531	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48828531C>G	ENST00000505658.1	+	0	1997				LUC7L3_ENST00000240304.1_Intron|LUC7L3_ENST00000503798.1_3'UTR|LUC7L3_ENST00000393227.2_3'UTR			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)						mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAGGATGTTTCTAGTTTTTTG	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	51747				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.*509C>G	17.37:g.48828531C>G			B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	RNA	SNP	-	NULL	ENST00000505658.1	37	NULL	CCDS11573.1	17																																																																																			LUC7L3	-	-		0.343	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L3	HGNC	protein_coding	OTTHUMT00000368205.2	C	NM_016424		48828531	+1	no_errors	ENST00000503798	ensembl	human	putative	70_37	rna	SNP	1.000	G
LYST	1130	genome.wustl.edu	37	1	235964185	235964185	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:235964185G>C	ENST00000389794.3	-	9	4099	c.3925C>G	c.(3925-3927)Ctg>Gtg	p.L1309V	LYST_ENST00000536965.1_Missense_Mutation_p.L1309V|LYST_ENST00000389793.2_Missense_Mutation_p.L1309V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1309					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCATGAGCAGAAAAACATTC	0.313																																																	0													39.0	39.0	39.0					1																	235964185		2203	4299	6502	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3925C>G	1.37:g.235964185G>C	ENSP00000374444:p.Leu1309Val		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1309V	ENST00000389794.3	37	c.3925	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942597	0.34283	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.61980	0.06;0.06;1.15	6.16	4.1	0.47936	.	0.069978	0.56097	D	0.000021	T	0.62841	0.2461	L	0.48362	1.52	0.36449	D	0.865941	D;B	0.76494	0.999;0.034	D;B	0.85130	0.997;0.038	T	0.68372	-0.5426	10	0.02654	T	1	.	4.7415	0.13015	0.2224:0.2474:0.5302:0.0	.	1309;1309	Q99698-3;Q99698	.;LYST_HUMAN	V	1309	ENSP00000374444:L1309V;ENSP00000374443:L1309V;ENSP00000438315:L1309V	ENSP00000374443:L1309V	L	-	1	2	LYST	234030808	0.301000	0.24444	0.998000	0.56505	0.994000	0.84299	0.556000	0.23438	1.612000	0.50221	0.650000	0.86243	CTG	LYST	-	superfamily_ARM-type_fold		0.313	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235964185	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	missense	SNP	0.995	C
MACF1	23499	genome.wustl.edu	37	1	39751356	39751356	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:39751356C>G	ENST00000372915.3	+	13	1536	c.1449C>G	c.(1447-1449)ctC>ctG	p.L483L	MACF1_ENST00000361689.2_Silent_p.L483L|MACF1_ENST00000539005.1_Silent_p.L483L|MACF1_ENST00000567887.1_Silent_p.L515L|MACF1_ENST00000545844.1_Silent_p.L483L|MACF1_ENST00000564288.1_Silent_p.L478L|MACF1_ENST00000317713.7_Silent_p.L483L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	483					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGAAGGTCTCATCAGGCAGC	0.488																																																	0													106.0	94.0	98.0					1																	39751356		2203	4300	6503	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1449C>G	1.37:g.39751356C>G			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L483	ENST00000372915.3	37	c.1449		1																																																																																			MACF1	-	NULL		0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	C	NM_033044		39751356	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	silent	SNP	0.996	G
LYST	1130	genome.wustl.edu	37	1	235964366	235964366	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:235964366G>A	ENST00000389794.3	-	9	3918	c.3744C>T	c.(3742-3744)ttC>ttT	p.F1248F	LYST_ENST00000536965.1_Silent_p.F1248F|LYST_ENST00000389793.2_Silent_p.F1248F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1248					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGATGCACTGAAACCTTCTG	0.343																																																	0													94.0	98.0	97.0					1																	235964366		2203	4300	6503	SO:0001819	synonymous_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3744C>T	1.37:g.235964366G>A			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1248	ENST00000389794.3	37	c.3744	CCDS31062.1	1																																																																																			LYST	-	superfamily_ARM-type_fold		0.343	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235964366	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	silent	SNP	0.000	A
MAGED1	9500	genome.wustl.edu	37	X	51639896	51639896	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:51639896C>G	ENST00000375722.1	+	4	1397	c.1145C>G	c.(1144-1146)aCt>aGt	p.T382S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.T382S|MAGED1_ENST00000375695.2_Missense_Mutation_p.T438S|MAGED1_ENST00000326587.7_Missense_Mutation_p.T382S			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	382	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GGATGGCAGACTCCACCTGGA	0.637										Multiple Myeloma(10;0.10)																																							0													26.0	23.0	24.0					X																	51639896		2200	4300	6500	SO:0001583	missense	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1145C>G	X.37:g.51639896C>G	ENSP00000364874:p.Thr382Ser		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.T438S	ENST00000375722.1	37	c.1313	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	C	0.856	-0.737030	0.03111	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	3.84	2.94	0.34122	.	0.699234	0.11811	N	0.527175	T	0.18383	0.0441	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.18935	-1.0321	10	0.07813	T	0.8	.	10.5793	0.45246	0.0:0.7983:0.2016:0.0	.	438;382	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	S	382;382;382;438	ENSP00000364927:T382S;ENSP00000364874:T382S;ENSP00000325333:T382S;ENSP00000364847:T438S	ENSP00000325333:T382S	T	+	2	0	MAGED1	51656636	0.006000	0.16342	0.828000	0.32881	0.665000	0.39181	0.145000	0.16157	0.702000	0.31825	0.284000	0.19432	ACT	MAGED1	-	NULL		0.637	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	C	NM_001005332		51639896	+1	no_errors	ENST00000375695	ensembl	human	known	70_37	missense	SNP	0.001	G
MAGED1	9500	genome.wustl.edu	37	X	51644958	51644958	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:51644958C>T	ENST00000375722.1	+	12	2521	c.2269C>T	c.(2269-2271)Cct>Tct	p.P757S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.P757S|MAGED1_ENST00000375695.2_Missense_Mutation_p.P813S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P757S			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	757					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATTATTGGTCCTGGTGGTAC	0.522										Multiple Myeloma(10;0.10)																																							0													85.0	75.0	79.0					X																	51644958		2203	4300	6503	SO:0001583	missense	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2269C>T	X.37:g.51644958C>T	ENSP00000364874:p.Pro757Ser		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P813S	ENST00000375722.1	37	c.2437	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	C	4.427	0.079018	0.08533	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.03860	3.86;3.86;3.86;3.78	4.07	3.21	0.36854	.	0.158994	0.30193	N	0.010183	T	0.02193	0.0068	N	0.08118	0	0.30027	N	0.813778	B;B	0.21753	0.06;0.006	B;B	0.20767	0.031;0.004	T	0.39921	-0.9590	10	0.09843	T	0.71	.	6.7713	0.23594	0.0:0.8711:0.0:0.1289	.	813;757	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	S	757;757;757;813	ENSP00000364927:P757S;ENSP00000364874:P757S;ENSP00000325333:P757S;ENSP00000364847:P813S	ENSP00000325333:P757S	P	+	1	0	MAGED1	51661698	0.967000	0.33354	0.840000	0.33206	0.024000	0.10985	1.520000	0.35899	1.064000	0.40671	0.600000	0.82982	CCT	MAGED1	-	NULL		0.522	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	C	NM_001005332		51644958	+1	no_errors	ENST00000375695	ensembl	human	known	70_37	missense	SNP	0.774	T
MAGEC1	9947	genome.wustl.edu	37	X	140994539	140994539	+	Missense_Mutation	SNP	C	C	G	rs140353352	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:140994539C>G	ENST00000285879.4	+	4	1635	c.1349C>G	c.(1348-1350)tCt>tGt	p.S450C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	450										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGCTCCTCTTTCTCCTAC	0.458										HNSCC(15;0.026)																																							0								C	CYS/SER	2,3825		0,2,1629,565	96.0	105.0	102.0		1349	0.1	0.0	X	dbSNP_134	102	0,6718		0,0,2428,1862	yes	missense	MAGEC1	NM_005462.4	112	0,2,4057,2427	GG,GC,CC,C		0.0,0.0523,0.019	probably-damaging	450/1143	140994539	2,10543	2196	4290	6486	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1349C>G	X.37:g.140994539C>G	ENSP00000285879:p.Ser450Cys		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S450C	ENST00000285879.4	37	c.1349	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	4.868	0.161341	0.09287	5.23E-4	0.0	ENSG00000155495	ENST00000285879	T	0.04015	3.73	0.131	0.131	0.14755	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.09310	N	0.999998	D	0.63046	0.992	P	0.60117	0.869	T	0.41840	-0.9486	9	0.66056	D	0.02	.	5.9545	0.19265	0.0:0.9994:0.0:6.0E-4	.	450	O60732	MAGC1_HUMAN	C	450	ENSP00000285879:S450C	ENSP00000285879:S450C	S	+	2	0	MAGEC1	140822205	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.736000	0.04882	0.157000	0.19338	0.158000	0.16466	TCT	MAGEC1	-	NULL		0.458	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140994539	+1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.031	G
MAMDC2	256691	genome.wustl.edu	37	9	72741174	72741174	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:72741174C>G	ENST00000377182.4	+	6	1360	c.743C>G	c.(742-744)tCa>tGa	p.S248*	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	248	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGCTGCCTGTCATTTTATTAC	0.532																																																	0													76.0	68.0	71.0					9																	72741174		2203	4300	6503	SO:0001587	stop_gained	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.743C>G	9.37:g.72741174C>G	ENSP00000366387:p.Ser248*		Q5VW47|Q8WX43|Q96BM4	Nonsense_Mutation	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.S248*	ENST00000377182.4	37	c.743	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	C	43	10.282871	0.99375	.	.	ENSG00000165072	ENST00000377182	.	.	.	6.03	5.13	0.70059	.	0.214002	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-5.4859	15.5888	0.76510	0.0:0.9342:0.0:0.0658	.	.	.	.	X	248	.	ENSP00000366387:S248X	S	+	2	0	MAMDC2	71930994	0.934000	0.31675	0.885000	0.34714	0.948000	0.59901	1.836000	0.39191	1.568000	0.49683	0.555000	0.69702	TCA	MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.532	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	C	NM_153267		72741174	+1	no_errors	ENST00000377182	ensembl	human	known	70_37	nonsense	SNP	0.993	G
MAN1B1	11253	genome.wustl.edu	37	9	139998618	139998618	+	Intron	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:139998618C>A	ENST00000371589.4	+	9	1327				MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Intron	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1						cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		aaacactgttcaggtttttct	0.458																																																	0																																										SO:0001627	intron_variant	11253			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1255-1959C>A	9.37:g.139998618C>A			Q5VSG3|Q9BRS9|Q9Y5K7	RNA	SNP	-	NULL	ENST00000371589.4	37	NULL	CCDS7029.1	9																																																																																			MAN1B1	-	-		0.458	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1B1	HGNC	protein_coding	OTTHUMT00000055294.2	C	NM_016219		139998618	+1	no_errors	ENST00000540391	ensembl	human	known	70_37	rna	SNP	0.621	A
MAP1B	4131	genome.wustl.edu	37	5	71490611	71490611	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:71490611C>A	ENST00000296755.7	+	5	1727	c.1429C>A	c.(1429-1431)Cca>Aca	p.P477T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	477					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGTGTGGCATCCAGCAAACCC	0.448																																					Melanoma(17;367 822 11631 31730 47712)												0													84.0	85.0	85.0					5																	71490611		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1429C>A	5.37:g.71490611C>A	ENSP00000296755:p.Pro477Thr		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.P477T	ENST00000296755.7	37	c.1429	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854389	0.71719	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.03889	3.77;3.77;3.77	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000015	T	0.26882	0.0658	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.00998	-1.1486	10	0.87932	D	0	-9.9487	19.6914	0.96002	0.0:1.0:0.0:0.0	.	351;477	A2BDK6;P46821	.;MAP1B_HUMAN	T	477;494;351	ENSP00000296755:P477T;ENSP00000423444:P494T;ENSP00000423416:P351T	ENSP00000296755:P477T	P	+	1	0	MAP1B	71526367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	CCA	MAP1B	-	NULL		0.448	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71490611	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	1.000	A
MAP1B	4131	genome.wustl.edu	37	5	71490899	71490899	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:71490899C>G	ENST00000296755.7	+	5	2015	c.1717C>G	c.(1717-1719)Cac>Gac	p.H573D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	573					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAAGTGAATCACGTGGAAAA	0.438																																					Melanoma(17;367 822 11631 31730 47712)												0													52.0	53.0	53.0					5																	71490899		2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1717C>G	5.37:g.71490899C>G	ENSP00000296755:p.His573Asp		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.H573D	ENST00000296755.7	37	c.1717	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	0.921	-0.715954	0.03206	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.03663	3.85;3.85;3.85	5.41	5.41	0.78517	.	0.510888	0.17754	N	0.163128	T	0.04318	0.0119	L	0.29908	0.895	0.32169	N	0.581851	B;B	0.19583	0.037;0.016	B;B	0.14578	0.011;0.004	T	0.26608	-1.0098	10	0.12766	T	0.61	-1.3341	19.2047	0.93724	0.0:1.0:0.0:0.0	.	447;573	A2BDK6;P46821	.;MAP1B_HUMAN	D	573;590;447	ENSP00000296755:H573D;ENSP00000423444:H590D;ENSP00000423416:H447D	ENSP00000296755:H573D	H	+	1	0	MAP1B	71526655	0.584000	0.26766	0.196000	0.23383	0.598000	0.36846	2.819000	0.48049	2.535000	0.85469	0.563000	0.77884	CAC	MAP1B	-	NULL		0.438	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71490899	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	0.749	G
MAP1B	4131	genome.wustl.edu	37	5	71491642	71491642	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:71491642C>T	ENST00000296755.7	+	5	2758	c.2460C>T	c.(2458-2460)gcC>gcT	p.A820A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	820					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTGGCCCTGCCAAAGAACTCG	0.547																																					Melanoma(17;367 822 11631 31730 47712)												0													52.0	54.0	53.0					5																	71491642		2202	4300	6502	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2460C>T	5.37:g.71491642C>T			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.A820	ENST00000296755.7	37	c.2460	CCDS4012.1	5																																																																																			MAP1B	-	NULL		0.547	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71491642	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	silent	SNP	0.941	T
MAP3K2	10746	genome.wustl.edu	37	2	128088060	128088060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:128088060G>A	ENST00000409947.1	-	6	568	c.286C>T	c.(286-288)Caa>Taa	p.Q96*	MAP3K2_ENST00000344908.5_Nonsense_Mutation_p.Q96*			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	96	OPR.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	AAGTCATCTTGAGTAGTTAAT	0.378																																																	0													70.0	63.0	65.0					2																	128088060		1878	4118	5996	SO:0001587	stop_gained	10746			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.286C>T	2.37:g.128088060G>A	ENSP00000387246:p.Gln96*		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q96*	ENST00000409947.1	37	c.286	CCDS46404.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.635050	0.98403	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000343463:Q96X	Q	-	1	0	MAP3K2	127804530	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	9.012000	0.93624	2.890000	0.99128	0.585000	0.79938	CAA	MAP3K2	-	pfam_OPR_PB1,smart_OPR_PB1		0.378	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1	G	NM_006609		128088060	-1	no_errors	ENST00000344908	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MAP3K5	4217	genome.wustl.edu	37	6	136923055	136923055	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:136923055G>C	ENST00000359015.4	-	20	3102	c.2742C>G	c.(2740-2742)ttC>ttG	p.F914L	MAP3K5_ENST00000355845.4_Missense_Mutation_p.F161L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	914	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATTTCAGTATGAATGCCTTGG	0.403																																																	0													117.0	103.0	108.0					6																	136923055		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2742C>G	6.37:g.136923055G>C	ENSP00000351908:p.Phe914Leu		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F914L	ENST00000359015.4	37	c.2742	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350413	0.82132	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.59224	0.28;0.28	5.35	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	N	0.17345	0.48	0.54753	D	0.999986	D;D	0.67145	0.994;0.996	D;D	0.76575	0.953;0.988	T	0.59402	-0.7461	10	0.72032	D	0.01	.	10.4259	0.44378	0.1507:0.0:0.8493:0.0	.	994;914	Q59GL6;Q99683	.;M3K5_HUMAN	L	914;161;994	ENSP00000351908:F914L;ENSP00000348104:F161L	ENSP00000348104:F161L	F	-	3	2	MAP3K5	136964748	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	4.603000	0.61105	1.369000	0.46134	0.557000	0.71058	TTC	MAP3K5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.403	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	G			136923055	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	C
MAP4K1	11184	genome.wustl.edu	37	19	39086603	39086603	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:39086603C>G	ENST00000591517.1	-	27	2183	c.2155G>C	c.(2155-2157)Gat>Cat	p.D719H	MAP4K1_ENST00000396857.2_Missense_Mutation_p.D719H|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D715H|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	719	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCACCATATCTTCCTCTACC	0.597																																																	0													176.0	191.0	186.0					19																	39086603		2033	4178	6211	SO:0001583	missense	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.2155G>C	19.37:g.39086603C>G	ENSP00000465039:p.Asp719His			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D719H	ENST00000591517.1	37	c.2155	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679386	0.68042	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.06218	3.33	4.88	4.88	0.63580	Citron-like (3);	0.134298	0.48767	D	0.000165	T	0.22627	0.0546	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00153	-1.1982	10	0.87932	D	0	.	9.0959	0.36638	0.0:0.9028:0.0:0.0972	.	719;719	Q92918-2;Q92918	.;M4K1_HUMAN	H	719	ENSP00000380066:D719H	ENSP00000221409:D719H	D	-	1	0	MAP4K1	43778443	0.994000	0.37717	1.000000	0.80357	0.950000	0.60333	2.686000	0.46968	2.557000	0.86248	0.555000	0.69702	GAT	MAP4K1	-	pfam_Citron,smart_Citron		0.597	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	C	NM_001042600		39086603	-1	no_errors	ENST00000591517	ensembl	human	known	70_37	missense	SNP	0.996	G
MAP4K2	5871	genome.wustl.edu	37	11	64567650	64567650	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:64567650G>A	ENST00000294066.2	-	12	937	c.846C>T	c.(844-846)ctC>ctT	p.L282L	MAP4K2_ENST00000377350.3_Silent_p.L282L|MAP4K2_ENST00000468062.1_5'Flank	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	282					activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GCAGCTGTGTGAGGAGGGCCC	0.627																																																	0													29.0	33.0	31.0					11																	64567650		2201	4297	6498	SO:0001819	synonymous_variant	5871			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.846C>T	11.37:g.64567650G>A			Q86VU3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L282	ENST00000294066.2	37	c.846	CCDS8082.1	11																																																																																			MAP4K2	-	superfamily_Kinase-like_dom		0.627	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	G	NM_004579		64567650	-1	no_errors	ENST00000294066	ensembl	human	known	70_37	silent	SNP	0.996	A
MAP7D3	79649	genome.wustl.edu	37	X	135323395	135323395	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:135323395C>A	ENST00000316077.9	-	5	679	c.459G>T	c.(457-459)agG>agT	p.R153S	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R135S|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R153S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	153					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CAGCAAGTCTCCTCCGTTCCA	0.323																																																	0													59.0	53.0	55.0					X																	135323395		1842	4096	5938	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.459G>T	X.37:g.135323395C>A	ENSP00000318086:p.Arg153Ser		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	pfam_E-MAP-115	p.R135S	ENST00000316077.9	37	c.405	CCDS44004.1	X	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.239538	0.01493	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.01918	4.56;4.56;4.56;4.56	5.15	1.47	0.22746	.	.	.	.	.	T	0.01287	0.0042	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.22346	0.041;0.02;0.023;0.068	B;B;B;B	0.14023	0.004;0.005;0.004;0.01	T	0.49194	-0.8965	9	0.07813	T	0.8	-7.4892	5.8191	0.18518	0.2928:0.1369:0.5704:0.0	.	135;153;153;153	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	S	153;153;135;153	ENSP00000359695:R153S;ENSP00000318086:R153S;ENSP00000359697:R135S;ENSP00000359694:R153S	ENSP00000318086:R153S	R	-	3	2	MAP7D3	135151061	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	1.880000	0.39628	-0.132000	0.11557	-0.381000	0.06696	AGG	MAP7D3	-	NULL		0.323	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	HGNC	protein_coding	OTTHUMT00000058487.2	C			135323395	-1	no_errors	ENST00000370663	ensembl	human	known	70_37	missense	SNP	0.009	A
MAPK15	225689	genome.wustl.edu	37	8	144801298	144801299	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144801298_144801299GC>TT	ENST00000338033.4	+	6	672_673	c.553_554GC>TT	c.(553-555)GCa>TTa	p.A185L	RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395107.4_Missense_Mutation_p.A202L|MAPK15_ENST00000395108.2_Missense_Mutation_p.A185L	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGGTACCGAGCACCGGAGGTG	0.683																																																	0																																										SO:0001583	missense	225689			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	Exception_encountered	8.37:g.144801298_144801299delinsTT	ENSP00000337691:p.Ala185Leu		Q2TCF9|Q8N362	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A185S|p.A185V	ENST00000338033.4	37	c.553|c.554	CCDS6409.2	8																																																																																			MAPK15	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.683	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	HGNC	protein_coding	OTTHUMT00000300348.1	G|C	NM_139021		144801298|144801299	+1	no_errors	ENST00000338033	ensembl	human	known	70_37	missense	SNP	1.000	T
MARS	4141	genome.wustl.edu	37	12	57906742	57906742	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:57906742C>T	ENST00000262027.5	+	15	2096	c.1962C>T	c.(1960-1962)atC>atT	p.I654I	MARS_ENST00000315473.5_Silent_p.I420I|RNU6-594P_ENST00000517056.1_RNA|RN7SL312P_ENST00000582079.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	654					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCAACTTCATCAACAGGTAGG	0.522																																																	0													89.0	85.0	87.0					12																	57906742		2203	4300	6503	SO:0001819	synonymous_variant	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1962C>T	12.37:g.57906742C>T			B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.I654	ENST00000262027.5	37	c.1962	CCDS8942.1	12																																																																																			MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth		0.522	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	C	NM_004990		57906742	+1	no_errors	ENST00000262027	ensembl	human	known	70_37	silent	SNP	1.000	T
MASP2	10747	genome.wustl.edu	37	1	11107058	11107058	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:11107058C>T	ENST00000400897.3	-	2	139	c.124G>A	c.(124-126)Gac>Aac	p.D42N	MASP2_ENST00000400898.3_Missense_Mutation_p.D42N	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	42	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CGCTCCTGGTCATTGGCATAC	0.667																																					GBM(35;611 746 20780 22741 36496)												0													20.0	26.0	24.0					1																	11107058		2159	4218	6377	SO:0001583	missense	10747			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.124G>A	1.37:g.11107058C>T	ENSP00000383690:p.Asp42Asn		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D42N	ENST00000400897.3	37	c.124	CCDS123.1	1	.	.	.	.	.	.	.	.	.	.	C	7.463	0.645107	0.14451	.	.	ENSG00000009724	ENST00000400897;ENST00000400898	T;T	0.24538	1.85;1.85	5.02	-3.81	0.04294	CUB (5);	0.835071	0.10507	N	0.666699	T	0.07007	0.0178	N	0.01188	-0.97	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.38001	-0.9681	10	0.23891	T	0.37	.	7.24	0.26092	0.0:0.3196:0.4138:0.2667	.	42;42	O00187-2;O00187	.;MASP2_HUMAN	N	42	ENSP00000383690:D42N;ENSP00000383691:D42N	ENSP00000383690:D42N	D	-	1	0	MASP2	11029645	0.003000	0.15002	0.000000	0.03702	0.041000	0.13682	-0.524000	0.06222	-0.497000	0.06641	0.655000	0.94253	GAC	MASP2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.667	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP2	HGNC	protein_coding	OTTHUMT00000006072.1	C	NM_006610		11107058	-1	no_errors	ENST00000400897	ensembl	human	known	70_37	missense	SNP	0.268	T
MAST1	22983	genome.wustl.edu	37	19	12958772	12958772	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:12958772C>G	ENST00000251472.4	+	7	714	c.675C>G	c.(673-675)atC>atG	p.I225M	MAST1_ENST00000591495.1_Missense_Mutation_p.I221M	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACCAGATCATCGAGCTGGCCC	0.592																																																	0													61.0	47.0	52.0					19																	12958772		2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.675C>G	19.37:g.12958772C>G	ENSP00000251472:p.Ile225Met			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.I225M	ENST00000251472.4	37	c.675	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614949	0.66672	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.34275	1.37	5.02	1.42	0.22433	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.363360	0.28504	N	0.015115	T	0.35480	0.0933	L	0.61387	1.9	0.31488	N	0.666311	B;B	0.29886	0.26;0.148	B;B	0.39876	0.312;0.161	T	0.42932	-0.9422	10	0.66056	D	0.02	-7.9358	3.3129	0.07022	0.2933:0.4714:0.1438:0.0916	.	225;225	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	M	225	ENSP00000251472:I225M	ENSP00000251472:I225M	I	+	3	3	MAST1	12819772	0.063000	0.20901	1.000000	0.80357	0.995000	0.86356	-0.578000	0.05841	0.602000	0.29896	0.491000	0.48974	ATC	MAST1	-	pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom		0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	C	NM_014975		12958772	+1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	1.000	G
MC3R	4159	genome.wustl.edu	37	20	54824520	54824520	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:54824520C>T	ENST00000243911.2	+	1	733	c.621C>T	c.(619-621)taC>taT	p.Y207Y		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	207					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GCACCCTCTACGTGCACATGT	0.577																																																	0													185.0	147.0	160.0					20																	54824520		2203	4300	6503	SO:0001819	synonymous_variant	4159				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.621C>T	20.37:g.54824520C>T			Q4KN27|Q9H517	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.Y207	ENST00000243911.2	37	c.621	CCDS13449.2	20																																																																																			MC3R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.577	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC3R	HGNC	protein_coding	OTTHUMT00000079786.2	C			54824520	+1	no_errors	ENST00000243911	ensembl	human	known	70_37	silent	SNP	1.000	T
MDC1	9656	genome.wustl.edu	37	6	30681690	30681690	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30681690G>C	ENST00000376406.3	-	3	1054	c.407C>G	c.(406-408)tCt>tGt	p.S136C	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S136C|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	136	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AAAGGGCAGAGAGACATCCAG	0.562								Other conserved DNA damage response genes																																									0													70.0	76.0	74.0					6																	30681690		1511	2709	4220	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.407C>G	6.37:g.30681690G>C	ENSP00000365588:p.Ser136Cys		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.S136C	ENST00000376406.3	37	c.407	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116173	0.37339	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104;ENST00000435797;ENST00000452213;ENST00000416571	T;T	0.03035	4.15;4.07	5.68	4.8	0.61643	SMAD/FHA domain (1);	0.407023	0.18286	N	0.145882	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	P;P;P	0.49447	0.924;0.785;0.906	P;B;B	0.46452	0.517;0.42;0.319	T	0.48917	-0.8992	10	0.54805	T	0.06	-5.2312	12.6173	0.56584	0.0:0.1665:0.8335:0.0	.	136;8;136	Q14676-2;B4DYH4;Q14676	.;.;MDC1_HUMAN	C	136;136;136;8;136;136;136	ENSP00000365588:S136C;ENSP00000365587:S136C	ENSP00000365587:S136C	S	-	2	0	MDC1	30789669	0.019000	0.18553	0.003000	0.11579	0.107000	0.19398	1.640000	0.37186	1.373000	0.46208	0.650000	0.86243	TCT	MDC1	-	superfamily_SMAD_FHA_domain		0.562	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30681690	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	missense	SNP	0.013	C
MDH1	4190	genome.wustl.edu	37	2	63833082	63833082	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:63833082delG	ENST00000233114.8	+	8	1234	c.799delG	c.(799-801)gtgfs	p.V267fs	MDH1_ENST00000544381.1_Frame_Shift_Del_p.V178fs|MDH1_ENST00000394423.1_Frame_Shift_Del_p.V267fs|MDH1_ENST00000409908.1_Frame_Shift_Del_p.V102fs|MDH1_ENST00000409476.1_Frame_Shift_Del_p.V143fs|MDH1_ENST00000539945.1_Frame_Shift_Del_p.V285fs	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	267					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						GGGAGAGTTTGTGTCCATGGG	0.378																																																	0													379.0	348.0	359.0					2																	63833082		2203	4300	6503	SO:0001589	frameshift_variant	4190				CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.799delG	2.37:g.63833082delG	ENSP00000233114:p.Val267fs		B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Frame_Shift_Del	DEL	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2	p.V285fs	ENST00000233114.8	37	c.853	CCDS1874.1	2																																																																																			MDH1	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2		0.378	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH1	HGNC	protein_coding	OTTHUMT00000251687.1	G			63833082	+1	no_errors	ENST00000539945	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
MDN1	23195	genome.wustl.edu	37	6	90354840	90354840	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:90354840C>T	ENST00000369393.3	-	101	16611	c.16496G>A	c.(16495-16497)cGa>cAa	p.R5499Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R5499Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5499	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAAAGGCCTCGCCCATCAGA	0.443																																																	0													80.0	89.0	86.0					6																	90354840		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16496G>A	6.37:g.90354840C>T	ENSP00000358400:p.Arg5499Gln		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R5499Q	ENST00000369393.3	37	c.16496	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115014	0.77210	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.21734	1.99;1.99	5.84	5.84	0.93424	von Willebrand factor, type A (2);	0.000000	0.64402	D	0.000002	T	0.42177	0.1191	M	0.74647	2.275	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	T	0.10245	-1.0638	10	0.44086	T	0.13	.	20.1579	0.98126	0.0:1.0:0.0:0.0	.	5499	Q9NU22	MDN1_HUMAN	Q	5499	ENSP00000358400:R5499Q;ENSP00000413970:R5499Q	ENSP00000358400:R5499Q	R	-	2	0	MDN1	90411561	1.000000	0.71417	0.858000	0.33744	0.981000	0.71138	7.352000	0.79404	2.767000	0.95098	0.555000	0.69702	CGA	MDN1	-	smart_VWF_A,pirsf_Midasin,pfscan_VWF_A		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90354840	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	0.996	T
MDP1	145553	genome.wustl.edu	37	14	24684984	24684984	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:24684984G>A	ENST00000288087.7	-	2	168	c.57C>T	c.(55-57)ttC>ttT	p.F19F	CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Intron|NEDD8-MDP1_ENST00000604306.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|MDP1_ENST00000396833.2_Silent_p.F19F|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_5'Flank|TM9SF1_ENST00000556387.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000609024.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	19						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						TGTCGACCCAGAAAGGCCAGA	0.597											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													162.0	159.0	160.0					14																	24684984		2203	4300	6503	SO:0001819	synonymous_variant	145553			BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.57C>T	14.37:g.24684984G>A		773	Q86Y84|Q8NAD9	Silent	SNP	pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC	p.F19	ENST00000288087.7	37	c.57	CCDS9620.1	14																																																																																			MDP1	-	pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC		0.597	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MDP1	HGNC	protein_coding	OTTHUMT00000257367.1	G	NM_138476		24684984	-1	no_errors	ENST00000288087	ensembl	human	known	70_37	silent	SNP	1.000	A
MED1	5469	genome.wustl.edu	37	17	37566171	37566171	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:37566171C>T	ENST00000300651.6	-	17	2526	c.2303G>A	c.(2302-2304)cGa>cAa	p.R768Q	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACTGGATAGTCGGACCATCCT	0.502										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													140.0	131.0	134.0					17																	37566171		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2303G>A	17.37:g.37566171C>T	ENSP00000300651:p.Arg768Gln		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.R768Q	ENST00000300651.6	37	c.2303	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617724	0.66787	.	.	ENSG00000125686	ENST00000300651	T	0.57752	0.38	5.9	4.93	0.64822	.	.	.	.	.	T	0.41858	0.1177	L	0.27053	0.805	0.54753	D	0.999982	D	0.52996	0.957	B	0.40864	0.342	T	0.38067	-0.9678	9	0.42905	T	0.14	-0.7914	16.6078	0.84835	0.1311:0.8689:0.0:0.0	.	768	Q15648	MED1_HUMAN	Q	768	ENSP00000300651:R768Q	ENSP00000300651:R768Q	R	-	2	0	MED1	34819697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	1.489000	0.48450	0.561000	0.74099	CGA	MED1	-	NULL		0.502	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	C	NM_004774		37566171	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	T
MED1	5469	genome.wustl.edu	37	17	37566301	37566301	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:37566301C>T	ENST00000300651.6	-	17	2396	c.2173G>A	c.(2173-2175)Gat>Aat	p.D725N	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATGTTGACATCAAAGATAGGG	0.478										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													146.0	135.0	139.0					17																	37566301		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2173G>A	17.37:g.37566301C>T	ENSP00000300651:p.Asp725Asn		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.D725N	ENST00000300651.6	37	c.2173	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947506	0.73672	.	.	ENSG00000125686	ENST00000300651	T	0.58358	0.34	5.8	5.8	0.92144	.	.	.	.	.	T	0.63686	0.2532	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64799	-0.6322	9	0.56958	D	0.05	-10.3008	20.0505	0.97625	0.0:1.0:0.0:0.0	.	725	Q15648	MED1_HUMAN	N	725	ENSP00000300651:D725N	ENSP00000300651:D725N	D	-	1	0	MED1	34819827	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.594000	0.82698	2.739000	0.93911	0.561000	0.74099	GAT	MED1	-	NULL		0.478	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	C	NM_004774		37566301	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	T
MED1	5469	genome.wustl.edu	37	17	37566664	37566664	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:37566664G>C	ENST00000300651.6	-	17	2033	c.1810C>G	c.(1810-1812)Ctt>Gtt	p.L604V	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AAACTGGTAAGAATTGGGTTC	0.542										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													127.0	116.0	120.0					17																	37566664		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.1810C>G	17.37:g.37566664G>C	ENSP00000300651:p.Leu604Val		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.L604V	ENST00000300651.6	37	c.1810	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430920	0.43122	.	.	ENSG00000125686	ENST00000300651	T	0.66815	-0.23	5.46	5.46	0.80206	.	.	.	.	.	T	0.72827	0.3509	N	0.24115	0.695	0.54753	D	0.999987	D	0.63880	0.993	D	0.70016	0.967	T	0.74830	-0.3531	9	0.51188	T	0.08	-9.2164	19.3101	0.94184	0.0:0.0:1.0:0.0	.	604	Q15648	MED1_HUMAN	V	604	ENSP00000300651:L604V	ENSP00000300651:L604V	L	-	1	0	MED1	34820190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.592000	0.67543	2.560000	0.86352	0.561000	0.74099	CTT	MED1	-	NULL		0.542	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	G	NM_004774		37566664	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	C
MED1	5469	genome.wustl.edu	37	17	37566950	37566950	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:37566950C>A	ENST00000394287.3	-	17	1729	c.1524G>T	c.(1522-1524)atG>atT	p.M508I	MED1_ENST00000300651.6_Missense_Mutation_p.M508I			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAATAGCCCTCATCGTCACAG	0.438										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													79.0	73.0	75.0					17																	37566950		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1524G>T	17.37:g.37566950C>A	ENSP00000377828:p.Met508Ile		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.M508I	ENST00000394287.3	37	c.1524		17	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143123	0.57044	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T;T	0.51325	0.71;0.71	5.8	5.8	0.92144	.	.	.	.	.	T	0.66963	0.2843	L	0.57536	1.79	0.80722	D	1	D;D	0.67145	0.969;0.996	D;D	0.75484	0.914;0.986	T	0.62029	-0.6940	9	0.38643	T	0.18	-9.7254	20.0505	0.97625	0.0:1.0:0.0:0.0	.	508;508	Q15648;Q15648-3	MED1_HUMAN;.	I	508	ENSP00000377828:M508I;ENSP00000300651:M508I	ENSP00000300651:M508I	M	-	3	0	MED1	34820476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.739000	0.93911	0.561000	0.74099	ATG	MED1	-	NULL		0.438	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	C	NM_004774		37566950	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	A
MED14	9282	genome.wustl.edu	37	X	40541888	40541888	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:40541888C>G	ENST00000324817.1	-	18	2450	c.2332G>C	c.(2332-2334)Gag>Cag	p.E778Q	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	778	Interaction with SREBF1.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACACACACTCATATAATCGT	0.363																																																	0													81.0	56.0	64.0					X																	40541888		2201	4296	6497	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2332G>C	X.37:g.40541888C>G	ENSP00000323720:p.Glu778Gln		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.E778Q	ENST00000324817.1	37	c.2332	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294410	0.40594	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.76	5.76	0.90799	.	0.092861	0.64402	D	0.000001	T	0.39600	0.1084	N	0.08118	0	0.52099	D	0.999947	B	0.06786	0.001	B	0.04013	0.001	T	0.24905	-1.0147	9	0.17369	T	0.5	.	18.9488	0.92632	0.0:1.0:0.0:0.0	.	778	O60244	MED14_HUMAN	Q	778	.	ENSP00000323720:E778Q	E	-	1	0	MED14	40426832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.919000	0.70005	2.423000	0.82170	0.600000	0.82982	GAG	MED14	-	NULL		0.363	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	C	NM_004229		40541888	-1	no_errors	ENST00000324817	ensembl	human	known	70_37	missense	SNP	1.000	G
MED12	9968	genome.wustl.edu	37	X	70341573	70341573	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:70341573C>G	ENST00000374080.3	+	7	1040	c.1008C>G	c.(1006-1008)ccC>ccG	p.P336P	MED12_ENST00000333646.6_Silent_p.P336P|MED12_ENST00000374102.1_Silent_p.P336P			Q93074	MED12_HUMAN	mediator complex subunit 12	336					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTCCTCAGCCCCCAACTAGCA	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													92.0	98.0	96.0					X																	70341573		2126	4218	6344	SO:0001819	synonymous_variant	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1008C>G	X.37:g.70341573C>G			O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.P336	ENST00000374080.3	37	c.1008	CCDS43970.1	X																																																																																			MED12	-	pfam_Mediator_Med12_LCEWAV		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70341573	+1	no_errors	ENST00000333646	ensembl	human	known	70_37	silent	SNP	0.819	G
MEF2A	4205	genome.wustl.edu	37	15	100230473	100230473	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:100230473C>T	ENST00000557785.1	+	8	1047	c.698C>T	c.(697-699)tCt>tTt	p.S233F	MEF2A_ENST00000338042.6_Missense_Mutation_p.S233F|MEF2A_ENST00000449277.2_Missense_Mutation_p.S165F|MEF2A_ENST00000558812.1_Missense_Mutation_p.S165F|MEF2A_ENST00000453228.2_Missense_Mutation_p.S233F|MEF2A_ENST00000557942.1_Missense_Mutation_p.S233F|MEF2A_ENST00000354410.5_Missense_Mutation_p.S235F	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	235					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TCAAGAGCTTCTCCAAATTTG	0.393																																																	0													40.0	37.0	38.0					15																	100230473		1804	4076	5880	SO:0001583	missense	4205				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.698C>T	15.37:g.100230473C>T	ENSP00000453441:p.Ser233Phe		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.S233F	ENST00000557785.1	37	c.698	CCDS53978.1	15	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810669	0.90707	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.65916	-0.18;-0.16;-0.18;0.35	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	M	0.76838	2.35	0.49582	D	0.999809	D;D;D;D;D;D	0.89917	0.998;0.999;0.997;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.997;0.996;0.988;0.998;0.999;0.996	T	0.82398	-0.0477	10	0.87932	D	0	-22.6897	19.8623	0.96787	0.0:1.0:0.0:0.0	.	235;165;154;233;235;233	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	F	233;235;233;165	ENSP00000404110:S233F;ENSP00000346389:S235F;ENSP00000337202:S233F;ENSP00000399460:S165F	ENSP00000337202:S233F	S	+	2	0	MEF2A	98047996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.769000	0.95229	0.650000	0.86243	TCT	MEF2A	-	NULL		0.393	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MEF2A	HGNC	protein_coding	OTTHUMT00000415985.1	C			100230473	+1	no_errors	ENST00000338042	ensembl	human	known	70_37	missense	SNP	1.000	T
MEI1	150365	genome.wustl.edu	37	22	42159295	42159295	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:42159295C>G	ENST00000401548.3	+	19	2278	c.2238C>G	c.(2236-2238)atC>atG	p.I746M	MEI1_ENST00000540880.1_Missense_Mutation_p.I64M|MEI1_ENST00000540833.1_Missense_Mutation_p.I486M|MEI1_ENST00000400107.1_Missense_Mutation_p.I114M|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCTTGCAATCTGCCAGGACA	0.527											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													115.0	106.0	109.0					22																	42159295		1967	4166	6133	SO:0001583	missense	150365			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2238C>G	22.37:g.42159295C>G	ENSP00000384115:p.Ile746Met	906		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I746M	ENST00000401548.3	37	c.2238	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410154	0.25465	.	.	ENSG00000167077	ENST00000401548;ENST00000540833;ENST00000400107;ENST00000540880	T;T;T;T	0.71817	-0.6;0.88;-0.17;1.17	5.67	-0.415	0.12355	.	0.561932	0.17790	N	0.161915	T	0.50752	0.1634	N	0.22421	0.69	0.45528	D	0.998484	B;P;B	0.37636	0.015;0.603;0.015	B;B;B	0.37267	0.013;0.245;0.013	T	0.42447	-0.9451	10	0.72032	D	0.01	-2.5478	5.7683	0.18239	0.0:0.5059:0.2683:0.2258	.	114;114;746	Q5TIA1-3;Q5TIA1-2;Q5TIA1	.;.;MEI1_HUMAN	M	746;486;114;64	ENSP00000384115:I746M;ENSP00000444225:I486M;ENSP00000382978:I114M;ENSP00000437436:I64M	ENSP00000382978:I114M	I	+	3	3	MEI1	40489241	0.772000	0.28567	0.216000	0.23742	0.433000	0.31745	0.582000	0.23834	0.059000	0.16252	-0.150000	0.13652	ATC	MEI1	-	superfamily_ARM-type_fold		0.527	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	C	NM_152513		42159295	+1	no_errors	ENST00000401548	ensembl	human	known	70_37	missense	SNP	0.259	G
MEPE	56955	genome.wustl.edu	37	4	88766903	88766903	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:88766903C>T	ENST00000424957.3	+	4	956	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	MEPE_ENST00000540395.1_Missense_Mutation_p.H182Y|MEPE_ENST00000395102.4_Missense_Mutation_p.H326Y|MEPE_ENST00000361056.3_Missense_Mutation_p.H295Y|MEPE_ENST00000560249.1_Missense_Mutation_p.H182Y|MEPE_ENST00000497649.2_Missense_Mutation_p.H271Y|MEPE_ENST00000508016.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	295					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGAGAGTACTCATCTTGACAC	0.433																																																	0													57.0	57.0	57.0					4																	88766903		2203	4300	6503	SO:0001583	missense	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.883C>T	4.37:g.88766903C>T	ENSP00000416984:p.His295Tyr		A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	pfam_Osteoregulin	p.H295Y	ENST00000424957.3	37	c.883	CCDS3625.1	4	.	.	.	.	.	.	.	.	.	.	C	9.756	1.168693	0.21621	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.18	-8.24	0.01029	.	2.128630	0.01810	N	0.033395	T	0.24509	0.0594	N	0.19112	0.55	0.09310	N	1	B	0.32010	0.351	B	0.24394	0.053	T	0.27400	-1.0075	10	0.66056	D	0.02	0.3519	9.4584	0.38769	0.1776:0.2548:0.5676:0.0	.	295	Q9NQ76	MEPE_HUMAN	Y	295;326;271;182;295	ENSP00000416984:H295Y;ENSP00000378534:H326Y;ENSP00000422747:H271Y;ENSP00000443491:H182Y;ENSP00000354341:H295Y	ENSP00000354341:H295Y	H	+	1	0	MEPE	88985927	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.339000	0.00506	-2.156000	0.00790	-0.976000	0.02587	CAT	MEPE	-	NULL		0.433	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	C			88766903	+1	no_errors	ENST00000361056	ensembl	human	known	70_37	missense	SNP	0.000	T
CHRNE	1145	genome.wustl.edu	37	17	4799783	4799783	+	IGR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:4799783G>A	ENST00000293780.4	-	0	2455				MINK1_ENST00000355280.6_Silent_p.E1225E|MINK1_ENST00000453408.3_Silent_p.E1205E|MINK1_ENST00000347992.7_Silent_p.E1196E|C17orf107_ENST00000521575.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	ACGGCATGGAGATGCTGCTGT	0.592																																																	0													145.0	153.0	150.0					17																	4799783		2186	4268	6454	SO:0001628	intergenic_variant	50488			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4799783G>A			D3DTK6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E1225	ENST00000293780.4	37	c.3675	CCDS11058.1	17																																																																																			MINK1	-	pfam_Citron,smart_Citron		0.592	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000207560.3	G			4799783	+1	no_errors	ENST00000355280	ensembl	human	known	70_37	silent	SNP	1.000	A
MIR3142	100422938	genome.wustl.edu	37	5	159901453	159901453	+	RNA	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:159901453C>G	ENST00000582487.1	+	0	45					NR_036095.1				microRNA 3142																		GCTGAATCTTCAGAAAGGCCT	0.443																																																	0																																												100422938					5	2011-09-12				ENSG00000265237		"""ncRNAs / Micro RNAs"""	38297	non-coding RNA	RNA, micro							Standard	NR_036095		Approved	hsa-mir-3142	uc021yhd.1				5.37:g.159901453C>G				RNA	SNP	-	NULL	ENST00000582487.1	37	NULL		5																																																																																			MIR3142	-	-		0.443	MIR3142-201	KNOWN	basic	miRNA	MIR3142	HGNC	miRNA		C	NR_036095		159901453	+1	no_errors	ENST00000582487	ensembl	human	known	70_37	rna	SNP	0.698	G
CHRM2	1129	genome.wustl.edu	37	7	136588013	136588013	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:136588013G>A	ENST00000445907.2	+	2	482				hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Intron|CHRM2_ENST00000402486.3_Intron|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Intron|hsa-mir-490_ENST00000608269.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Intron|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Intron|hsa-mir-490_ENST00000598184.1_RNA|MIR490_ENST00000384865.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCATGCTGTTGAGCTGTTCAC	0.468																																																	0													136.0	126.0	129.0					7																	136588013		1568	3582	5150	SO:0001627	intron_variant	574443				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.-47+33848G>A	7.37:g.136588013G>A			Q4VBK6|Q9P1X9	RNA	SNP	-	NULL	ENST00000445907.2	37	NULL	CCDS5843.1	7																																																																																			MIR490	-	-		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR490	HGNC	protein_coding	OTTHUMT00000341010.1	G			136588013	+1	no_errors	ENST00000384865	ensembl	human	known	70_37	rna	SNP	1.000	A
MKI67	4288	genome.wustl.edu	37	10	129905148	129905148	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:129905148G>C	ENST00000368654.3	-	13	5331	c.4956C>G	c.(4954-4956)ctC>ctG	p.L1652L	MKI67_ENST00000368653.3_Silent_p.L1292L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1652	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATGTCTGTGTGAGCTTGCCAA	0.502																																																	0													223.0	218.0	219.0					10																	129905148		2203	4300	6503	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4956C>G	10.37:g.129905148G>C			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.L1652	ENST00000368654.3	37	c.4956	CCDS7659.1	10																																																																																			MKI67	-	pfam_K167R		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	G	NM_002417		129905148	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	silent	SNP	0.000	C
MKRN2	23609	genome.wustl.edu	37	3	12623441	12623441	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:12623441G>T	ENST00000170447.7	+	7	1240	c.1103G>T	c.(1102-1104)gGc>gTc	p.G368V	MKRN2_ENST00000411987.1_Missense_Mutation_p.G325V|MKRN2_ENST00000448482.1_Missense_Mutation_p.G366V	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	368					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AGTTCTCAAGGCACTGTGAGG	0.532																																																	0													148.0	152.0	151.0					3																	12623441		2203	4300	6503	SO:0001583	missense	23609				CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.1103G>T	3.37:g.12623441G>T	ENSP00000170447:p.Gly368Val		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.G368V	ENST00000170447.7	37	c.1103	CCDS33702.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105874	0.77096	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.26957	2.62;1.7;1.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.66101	-0.6007	10	0.72032	D	0.01	.	18.1565	0.89693	0.0:0.0:1.0:0.0	.	325;366;368	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	V	368;325;366	ENSP00000170447:G368V;ENSP00000396340:G325V;ENSP00000397983:G366V	ENSP00000170447:G368V	G	+	2	0	MKRN2	12598441	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	7.299000	0.78831	2.713000	0.92767	0.655000	0.94253	GGC	MKRN2	-	NULL		0.532	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN2	HGNC	protein_coding	OTTHUMT00000339679.1	G	NM_014160		12623441	+1	no_errors	ENST00000170447	ensembl	human	known	70_37	missense	SNP	1.000	T
MLLT4	4301	genome.wustl.edu	37	6	168227370	168227370	+	5'Flank	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:168227370C>T	ENST00000447894.2	+	0	0				MLLT4_ENST00000351017.4_5'Flank|MLLT4_ENST00000400822.3_5'Flank|MLLT4_ENST00000344191.4_5'Flank|MLLT4-AS1_ENST00000359760.5_RNA|MLLT4_ENST00000392112.1_5'Flank|MLLT4_ENST00000366806.2_5'Flank|MLLT4_ENST00000392108.3_5'Flank			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCGGTACCGCCGGTTGGGACC	0.701			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0																																										SO:0001631	upstream_gene_variant	653483			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031		6.37:g.168227370C>T	Exception_encountered		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	RNA	SNP	-	NULL	ENST00000447894.2	37	NULL		6																																																																																			MLLT4-AS1	-	-		0.701	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4-AS1	HGNC	protein_coding	OTTHUMT00000372077.1	C	NM_005936		168227370	-1	no_errors	ENST00000359760	ensembl	human	known	70_37	rna	SNP	0.949	T
MMP19	4327	genome.wustl.edu	37	12	56234954	56234954	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56234954C>T	ENST00000322569.4	-	3	331	c.240G>A	c.(238-240)atG>atA	p.M80I	MMP19_ENST00000409200.3_Missense_Mutation_p.M80I|MMP19_ENST00000548629.1_Missense_Mutation_p.M80I|MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000394182.1_5'Flank	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	80					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GAGGCTGCCTCATGCGGGCCC	0.547																																																	0													83.0	84.0	84.0					12																	56234954		2203	4300	6503	SO:0001583	missense	4327			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.240G>A	12.37:g.56234954C>T	ENSP00000313437:p.Met80Ile		B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.M80I	ENST00000322569.4	37	c.240	CCDS8895.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.336952	0.95758	.	.	ENSG00000123342	ENST00000322569;ENST00000548629;ENST00000409200	T;T;T	0.44482	0.92;0.92;0.92	5.8	5.8	0.92144	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	T	0.72194	-0.4364	10	0.66056	D	0.02	.	18.8323	0.92145	0.0:1.0:0.0:0.0	.	80;80	B4E030;Q99542	.;MMP19_HUMAN	I	80	ENSP00000313437:M80I;ENSP00000446979:M80I;ENSP00000386625:M80I	ENSP00000313437:M80I	M	-	3	0	MMP19	54521221	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.860000	0.75473	2.755000	0.94549	0.655000	0.94253	ATG	MMP19	-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.547	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	HGNC	protein_coding	OTTHUMT00000408023.1	C	NM_002429		56234954	-1	no_errors	ENST00000322569	ensembl	human	known	70_37	missense	SNP	1.000	T
MMP2	4313	genome.wustl.edu	37	16	55527078	55527078	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:55527078C>G	ENST00000219070.4	+	9	1854	c.1345C>G	c.(1345-1347)Cct>Gct	p.P449A	MMP2_ENST00000570308.1_Missense_Mutation_p.P373A|MMP2_ENST00000437642.2_Missense_Mutation_p.P399A|MMP2_ENST00000543485.1_Missense_Mutation_p.P373A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	449	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AGGGGCCTCTCCTGACATTGA	0.602																																																	0													66.0	62.0	64.0					16																	55527078		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1345C>G	16.37:g.55527078C>G	ENSP00000219070:p.Pro449Ala		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.P449A	ENST00000219070.4	37	c.1345	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505359	0.26949	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.19669	2.25;2.13;2.17	5.55	3.44	0.39384	Metallopeptidase, catalytic domain (1);	0.701022	0.13581	N	0.377325	T	0.21718	0.0523	L	0.50919	1.6	0.32591	N	0.527155	B;B	0.10296	0.0;0.003	B;B	0.04013	0.0;0.001	T	0.14090	-1.0485	10	0.40728	T	0.16	.	13.2458	0.60022	0.3809:0.6191:0.0:0.0	.	399;449	E9PE45;P08253	.;MMP2_HUMAN	A	449;373;399	ENSP00000219070:P449A;ENSP00000444143:P373A;ENSP00000394237:P399A	ENSP00000219070:P449A	P	+	1	0	MMP2	54084579	0.058000	0.20735	0.476000	0.27291	0.668000	0.39293	0.634000	0.24614	1.331000	0.45412	0.563000	0.77884	CCT	MMP2	-	NULL		0.602	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	C			55527078	+1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	0.367	G
MOB3C	148932	genome.wustl.edu	37	1	47078756	47078756	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:47078756C>T	ENST00000319928.3	-	2	468	c.238G>A	c.(238-240)Gag>Aag	p.E80K	MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.E132K|MOB3C_ENST00000371940.1_Missense_Mutation_p.E103K|MKNK1_ENST00000545730.1_Intron	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	80							metal ion binding (GO:0046872)										CTGCAGCGCTCCGCCATAGTG	0.662																																																	0													81.0	61.0	68.0					1																	47078756		2203	4300	6503	SO:0001583	missense	148932			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.238G>A	1.37:g.47078756C>T	ENSP00000315113:p.Glu80Lys		D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.E132K	ENST00000319928.3	37	c.394	CCDS540.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509545	0.85282	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.82181	0.4981	M	0.90705	3.14	0.80722	D	1	P	0.42337	0.776	P	0.52189	0.692	D	0.85869	0.1415	9	0.87932	D	0	-38.9417	17.8765	0.88826	0.0:1.0:0.0:0.0	.	80	Q70IA8	MOB3C_HUMAN	K	80;132;103	.	ENSP00000271139:E132K	E	-	1	0	MOBKL2C	46851343	1.000000	0.71417	0.902000	0.35471	0.296000	0.27459	7.805000	0.86005	2.467000	0.83353	0.563000	0.77884	GAG	MOB3C	-	pfam_Mob1_phocein,superfamily_Mob1_phocein		0.662	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3C	HGNC	protein_coding		C	NM_145279		47078756	-1	no_errors	ENST00000271139	ensembl	human	known	70_37	missense	SNP	1.000	T
MOCS1	4337	genome.wustl.edu	37	6	39874294	39874294	+	Missense_Mutation	SNP	G	G	A	rs111379764		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:39874294G>A	ENST00000340692.5	-	11	1753	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	MOCS1_ENST00000425303.2_Missense_Mutation_p.R584W|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373195.3_Missense_Mutation_p.R481W|MOCS1_ENST00000308559.7_Missense_Mutation_p.R568W|MOCS1_ENST00000373186.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	584	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GTGGGGCCCCGAGCCCGGCAA	0.647																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0								G	,	1,4405	2.1+/-5.4	0,1,2202	50.0	53.0	52.0		,	3.5	1.0	6	dbSNP_132	52	0,8598		0,0,4299	no	utr-3,utr-3	MOCS1	NM_001075098.3,NM_005943.5	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	,	39874294	1,13003	2203	4299	6502	SO:0001583	missense	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1750C>T	6.37:g.39874294G>A	ENSP00000344794:p.Arg584Trp		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.R584W	ENST00000340692.5	37	c.1750		6	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559364	0.27827	2.27E-4	0.0	ENSG00000124615	ENST00000308559;ENST00000373195;ENST00000340692;ENST00000425303	T;T;T;T	0.31510	1.49;1.49;1.5;1.5	5.28	3.48	0.39840	Molybdopterin cofactor biosynthesis C (MoaC) domain (3);	0.262291	0.32736	N	0.005705	T	0.08582	0.0213	.	.	.	0.25713	N	0.985465	B;B;B	0.17465	0.022;0.012;0.017	B;B;B	0.12156	0.004;0.007;0.004	T	0.15780	-1.0425	9	0.54805	T	0.06	-12.3865	5.7022	0.17889	0.2223:0.0:0.6391:0.1386	.	568;584;584	Q9NZB8-2;Q9NZB8;Q9NZB8-8	.;MOCS1_HUMAN;.	W	568;481;584;584	ENSP00000309843:R568W;ENSP00000362291:R481W;ENSP00000344794:R584W;ENSP00000416478:R584W	ENSP00000309843:R568W	R	-	1	2	MOCS1	39982272	0.979000	0.34478	0.967000	0.41034	0.907000	0.53573	1.800000	0.38833	1.222000	0.43521	0.462000	0.41574	CGG	MOCS1	-	pfam_Mopterin_CF_biosynth-C_dom,superfamily_Mopterin_CF_biosynth-C_dom,tigrfam_Mo_CF_biosynth-C		0.647	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	G	NM_005943		39874294	-1	no_errors	ENST00000340692	ensembl	human	known	70_37	missense	SNP	0.306	A
MORC1	27136	genome.wustl.edu	37	3	108751580	108751580	+	Missense_Mutation	SNP	G	G	T	rs115832406		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:108751580G>T	ENST00000483760.1	-	16	1595	c.1552C>A	c.(1552-1554)Cgc>Agc	p.R518S	MORC1_ENST00000232603.5_Missense_Mutation_p.R518S					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTCCAAGCGGTTGGGATTA	0.279																																																	0													50.0	52.0	51.0					3																	108751580		2200	4295	6495	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1552C>A	3.37:g.108751580G>T	ENSP00000417282:p.Arg518Ser			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.R518S	ENST00000483760.1	37	c.1552		3	.	.	.	.	.	.	.	.	.	.	G	4.332	0.061047	0.08339	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05258	3.47;3.48	4.73	3.82	0.43975	Zinc finger, CW-type (2);	1.638180	0.03538	N	0.223535	T	0.03220	0.0094	N	0.00873	-1.125	0.09310	N	0.999996	B;B	0.19073	0.033;0.003	B;B	0.23716	0.048;0.006	T	0.33701	-0.9858	10	0.38643	T	0.18	2.5965	9.6869	0.40105	0.0:0.0:0.784:0.216	.	518;518	E7ERX1;Q86VD1	.;MORC1_HUMAN	S	518	ENSP00000232603:R518S;ENSP00000417282:R518S	ENSP00000232603:R518S	R	-	1	0	MORC1	110234270	0.447000	0.25673	0.324000	0.25361	0.985000	0.73830	0.697000	0.25556	1.132000	0.42129	0.655000	0.94253	CGC	MORC1	-	pfam_Znf_CW,pfscan_Znf_CW		0.279	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	G			108751580	-1	no_errors	ENST00000232603	ensembl	human	known	70_37	missense	SNP	0.579	T
MOV10L1	54456	genome.wustl.edu	37	22	50599221	50599221	+	Silent	SNP	G	G	A	rs376489254		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:50599221G>A	ENST00000262794.5	+	25	3512	c.3429G>A	c.(3427-3429)ctG>ctA	p.L1143L	MOV10L1_ENST00000395852.1_Silent_p.L270L|MOV10L1_ENST00000545383.1_Silent_p.L1143L|MOV10L1_ENST00000395858.3_Intron|MOV10L1_ENST00000540615.1_Silent_p.L1123L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1143					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AAGCTTTGCTGATAGTGCTGG	0.463																																																	0								G	,,,	0,4406		0,0,2203	117.0	120.0	119.0		,3369,810,3429	4.7	1.0	22		119	1,8599		0,1,4299	no	intron,coding-synonymous,coding-synonymous,coding-synonymous	MOV10L1	NM_001164104.1,NM_001164105.1,NM_001164106.1,NM_018995.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	,1123/1166,270/339,1143/1212	50599221	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3429G>A	22.37:g.50599221G>A			A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	superfamily_NA-bd_OB-fold-like	p.L1143	ENST00000262794.5	37	c.3429	CCDS14084.1	22																																																																																			MOV10L1	-	NULL		0.463	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50599221	+1	no_errors	ENST00000262794	ensembl	human	known	70_37	silent	SNP	1.000	A
MPDZ	8777	genome.wustl.edu	37	9	13223683	13223683	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:13223683G>A	ENST00000319217.7	-	5	667	c.420C>T	c.(418-420)ctC>ctT	p.L140L	MPDZ_ENST00000381015.4_Silent_p.L140L|MPDZ_ENST00000536827.1_Silent_p.L140L|MPDZ_ENST00000447879.1_Silent_p.L140L|MPDZ_ENST00000541718.1_Silent_p.L140L|MPDZ_ENST00000546205.1_Silent_p.L140L|MPDZ_ENST00000381022.2_Silent_p.L140L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	140	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)		GAGGTTTGAGGAGCTCAAAAA	0.458																																																	0													65.0	66.0	65.0					9																	13223683		1870	4098	5968	SO:0001819	synonymous_variant	8777			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.420C>T	9.37:g.13223683G>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.L140	ENST00000319217.7	37	c.420		9																																																																																			MPDZ	-	superfamily_PDZ,pfscan_PDZ		0.458	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	G	NM_003829		13223683	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	silent	SNP	1.000	A
MPZ	4359	genome.wustl.edu	37	1	161277055	161277055	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:161277055G>A	ENST00000533357.1	-	2	293	c.227C>T	c.(226-228)gCc>gTc	p.A76V	MPZ_ENST00000360451.6_Missense_Mutation_p.A86V|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000526189.1_5'Flank|MPZ_ENST00000336559.4_Missense_Mutation_p.A76V	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	76	Ig-like V-type.				cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACCGAAATGGCATCTCTGCC	0.547																																																	0			GRCh37	CM994406	MPZ	M							47.0	43.0	44.0					1																	161277055		2203	4300	6503	SO:0001583	missense	4359			BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.227C>T	1.37:g.161277055G>A	ENSP00000432943:p.Ala76Val		Q16072|Q5VTH4|Q92677|Q9BR67	Missense_Mutation	SNP	pfam_Myelin-PO_C,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.A86V	ENST00000533357.1	37	c.257	CCDS1229.2	1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171047	0.57584	.	.	ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000336559	T;T;T	0.64803	-0.12;-0.12;-0.12	5.36	5.36	0.76844	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.144568	0.46145	D	0.000303	T	0.37839	0.1018	L	0.58101	1.795	0.39379	D	0.966225	B	0.30727	0.292	B	0.20577	0.03	T	0.38457	-0.9660	9	0.30078	T	0.28	-20.4588	10.0847	0.42410	0.0915:0.0:0.9085:0.0	.	76	P25189	MYP0_HUMAN	V	76;86;76	ENSP00000432943:A76V;ENSP00000353634:A86V;ENSP00000337777:A76V	ENSP00000337777:A76V	A	-	2	0	MPZ	159543679	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.354000	0.44098	2.507000	0.84556	0.462000	0.41574	GCC	MPZ	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0		0.547	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZ	HGNC	protein_coding	OTTHUMT00000082987.2	G	NM_000530		161277055	-1	no_errors	ENST00000360451	ensembl	human	known	70_37	missense	SNP	1.000	A
MRPL23	6150	genome.wustl.edu	37	11	2005759	2005759	+	IGR	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:2005759C>T	ENST00000397297.3	+	0	613				MRPL23-AS1_ENST00000419080.1_RNA			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23						translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCACTCCTCTCCAGGTGGAGC	0.672																																																	0																																										SO:0001628	intergenic_variant	100133545			AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476		11.37:g.2005759C>T			A8MT29|Q96Q71	RNA	SNP	-	NULL	ENST00000397297.3	37	NULL		11																																																																																			MRPL23-AS1	-	-		0.672	MRPL23-009	PUTATIVE	basic|exp_conf	protein_coding	MRPL23-AS1	HGNC	protein_coding	OTTHUMT00000314380.1	C	NM_021134		2005759	-1	no_errors	ENST00000419080	ensembl	human	known	70_37	rna	SNP	0.000	T
MRPL49	740	genome.wustl.edu	37	11	64889736	64889736	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:64889736G>A	ENST00000279242.2	+	0	0				FAU_ENST00000529259.1_5'Flank|FAU_ENST00000279259.3_5'Flank|MRPL49_ENST00000534078.1_5'Flank|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000527548.1_5'Flank|FAU_ENST00000529639.1_5'UTR|FAU_ENST00000531743.1_5'Flank|FAU_ENST00000525297.1_5'Flank|MRPL49_ENST00000524482.1_3'UTR|FAU_ENST00000434372.2_5'Flank|MRPL49_ENST00000526171.1_5'Flank	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						TCGCACCGGCGAACCTGCCTG	0.652																																																	0																																										SO:0001631	upstream_gene_variant	740				CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64889736G>A	Exception_encountered		B2R4G6	RNA	SNP	-	NULL	ENST00000279242.2	37	NULL	CCDS8096.1	11																																																																																			MRPL49	-	-		0.652	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL49	HGNC	protein_coding	OTTHUMT00000385293.1	G	NM_004927		64889736	+1	no_errors	ENST00000524482	ensembl	human	known	70_37	rna	SNP	0.684	A
MT-ND4L	4539	genome.wustl.edu	37	M	10591	10591	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrM:10591T>C	ENST00000361335.1	+	1	122	c.122T>C	c.(121-123)tTc>tCc	p.F41S	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank			P03901	NU4LM_HUMAN	mitochondrially encoded NADH dehydrogenase 4L	41					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(2)|kidney(2)	5						ACTATCGCTGTTCATTATAGC	0.438																																																	0																																										SO:0001583	missense	4539					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000212907	ENSG00000212907	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7460	protein-coding gene	gene with protein product	"""complex I ND4L subunit"", ""NADH-ubiquinone oxidoreductase chain 4L"""	516004	"""NADH dehydrogenase 4L"""	MTND4L			Standard			Approved	ND4L, NAD4L		P03901		ENST00000361335.1:c.122T>C	M.37:g.10591T>C	ENSP00000354728:p.Phe41Ser			Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_chain4L/K	p.F41S	ENST00000361335.1	37	c.122		MT																																																																																			MT-ND4L	-	pfam_NADH_UbQ_OxRdtase_chain4L/K		0.438	MT-ND4L-201	KNOWN	basic|appris_principal	protein_coding	MT-ND4L	HGNC	protein_coding		T	YP_003024034		10591	+1	no_errors	ENST00000361335	ensembl	human	known	70_37	missense	SNP	NULL	C
MTF1	4520	genome.wustl.edu	37	1	38289467	38289467	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:38289467G>C	ENST00000373036.4	-	8	1226	c.1086C>G	c.(1084-1086)ctC>ctG	p.L362L		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	362					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAATTGTGCTGAGGTCCTGGC	0.448																																																	0													144.0	120.0	128.0					1																	38289467		2203	4300	6503	SO:0001819	synonymous_variant	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1086C>G	1.37:g.38289467G>C			B2RAK6|Q96CB1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L362	ENST00000373036.4	37	c.1086	CCDS30676.1	1																																																																																			MTF1	-	NULL		0.448	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF1	HGNC	protein_coding	OTTHUMT00000012984.2	G	NM_005955		38289467	-1	no_errors	ENST00000373036	ensembl	human	known	70_37	silent	SNP	1.000	C
MTMR4	9110	genome.wustl.edu	37	17	56581221	56581221	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:56581221G>A	ENST00000323456.5	-	15	1819	c.1695C>T	c.(1693-1695)ctC>ctT	p.L565L	MTMR4_ENST00000579925.1_Silent_p.L508L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	565	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCTGTCCAGAGGTGCAGGG	0.507																																																	0													134.0	133.0	134.0					17																	56581221		2203	4300	6503	SO:0001819	synonymous_variant	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1695C>T	17.37:g.56581221G>A			D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.L565	ENST00000323456.5	37	c.1695	CCDS11608.1	17																																																																																			MTMR4	-	NULL		0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	G	NM_004687		56581221	-1	no_errors	ENST00000323456	ensembl	human	known	70_37	silent	SNP	1.000	A
MTNR1B	4544	genome.wustl.edu	37	11	92714991	92714991	+	Missense_Mutation	SNP	C	C	T	rs138675484		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:92714991C>T	ENST00000257068.2	+	2	608	c.602C>T	c.(601-603)aCg>aTg	p.T201M		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	201					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ACCCAGTACACGGCGGCAGTG	0.612																																																	0													64.0	61.0	62.0					11																	92714991		2201	4298	6499	SO:0001583	missense	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.602C>T	11.37:g.92714991C>T	ENSP00000257068:p.Thr201Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt	p.T201M	ENST00000257068.2	37	c.602	CCDS8290.1	11	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236246	0.39498	.	.	ENSG00000134640	ENST00000257068	T	0.38240	1.15	4.21	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.053655	0.64402	D	0.000001	T	0.64494	0.2603	M	0.88377	2.95	0.58432	D	0.999993	D	0.89917	1.0	D	0.77557	0.99	T	0.72924	-0.4144	10	0.62326	D	0.03	-13.581	14.3818	0.66916	0.0:0.8511:0.1489:0.0	.	201	P49286	MTR1B_HUMAN	M	201	ENSP00000257068:T201M	ENSP00000257068:T201M	T	+	2	0	MTNR1B	92354639	1.000000	0.71417	0.316000	0.25252	0.001000	0.01503	5.339000	0.65953	1.101000	0.41535	0.491000	0.48974	ACG	MTNR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn		0.612	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1B	HGNC	protein_coding	OTTHUMT00000394323.1	C			92714991	+1	no_errors	ENST00000257068	ensembl	human	known	70_37	missense	SNP	0.998	T
MUC16	94025	genome.wustl.edu	37	19	9076110	9076110	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:9076110G>A	ENST00000397910.4	-	3	11539	c.11336C>T	c.(11335-11337)tCt>tTt	p.S3779F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3780	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCCCTATAGAGAAGGGCAA	0.527																																																	0													151.0	147.0	148.0					19																	9076110		2049	4206	6255	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11336C>T	19.37:g.9076110G>A	ENSP00000381008:p.Ser3779Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S3779F	ENST00000397910.4	37	c.11336	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.294	-0.361836	0.05103	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.93	0.801	0.18679	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.27166	0.17	B	0.25140	0.058	T	0.40776	-0.9545	8	0.87932	D	0	.	4.0161	0.09644	0.246:0.0:0.754:0.0	.	3779	B5ME49	.	F	3779	ENSP00000381008:S3779F	ENSP00000381008:S3779F	S	-	2	0	MUC16	8937110	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	0.729000	0.26028	0.313000	0.23062	0.313000	0.20887	TCT	MUC16	-	NULL		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9076110	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.001	A
MUC2	4583	genome.wustl.edu	37	11	1104215	1104215	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:1104215C>T	ENST00000441003.2	+	49	8433	c.8406C>T	c.(8404-8406)ggC>ggT	p.G2802G		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5164					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCCCCACCGGCACCTCCCGCC	0.706																																																	0													17.0	21.0	19.0					11																	1104215		1886	4107	5993	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8406C>T	11.37:g.1104215C>T			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G2802	ENST00000441003.2	37	c.8406		11																																																																																			MUC2	-	NULL		0.706	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	C	NM_002457		1104215	+1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	0.000	T
MUC4	4585	genome.wustl.edu	37	3	195509858	195509858	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:195509858G>C	ENST00000463781.3	-	2	9052	c.8593C>G	c.(8593-8595)Ctt>Gtt	p.L2865V	MUC4_ENST00000475231.1_Missense_Mutation_p.L2865V|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGAGAGGTGGCG	0.597																																																	0													36.0	28.0	30.0					3																	195509858		673	1572	2245	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8593C>G	3.37:g.195509858G>C	ENSP00000417498:p.Leu2865Val		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L2865V	ENST00000463781.3	37	c.8593	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	4.912	0.169505	0.09339	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34275	1.43;1.37	.	.	.	.	.	.	.	.	T	0.34366	0.0895	N	0.19112	0.55	0.09310	N	0.999997	P	0.52842	0.956	D	0.65010	0.931	T	0.17018	-1.0383	7	.	.	.	.	3.8637	0.09007	0.0:0.0:0.3759:0.6241	.	2737	E7ESK3	.	V	2865	ENSP00000417498:L2865V;ENSP00000420243:L2865V	.	L	-	1	0	MUC4	196994637	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.120000	0.03273	-0.000000	0.14550	0.000000	0.15137	CTT	MUC4	-	NULL		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195509858	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.867	C
MUC4	4585	genome.wustl.edu	37	3	195511679	195511679	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:195511679G>A	ENST00000463781.3	-	2	7231	c.6772C>T	c.(6772-6774)Cct>Tct	p.P2258S	MUC4_ENST00000475231.1_Missense_Mutation_p.P2258S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCGGTGACAGGAAGAGGGGTG	0.572																																																	0													30.0	29.0	30.0					3																	195511679		686	1584	2270	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6772C>T	3.37:g.195511679G>A	ENSP00000417498:p.Pro2258Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P2258S	ENST00000463781.3	37	c.6772	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	6.168	0.399191	0.11696	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30981	1.55;1.51	.	.	.	.	.	.	.	.	T	0.24736	0.0600	N	0.19112	0.55	0.09310	N	1	P	0.48350	0.909	P	0.50440	0.641	T	0.12837	-1.0532	6	.	.	.	.	.	.	.	.	2258	E7ESK3	.	S	2258	ENSP00000417498:P2258S;ENSP00000420243:P2258S	.	P	-	1	0	MUC4	196996074	0.053000	0.20554	0.005000	0.12908	0.101000	0.19017	0.136000	0.15974	0.488000	0.27723	0.064000	0.15345	CCT	MUC4	-	NULL		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195511679	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.009	A
MUC4	4585	genome.wustl.edu	37	3	195511990	195511990	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:195511990G>C	ENST00000463781.3	-	2	6920	c.6461C>G	c.(6460-6462)tCc>tGc	p.S2154C	MUC4_ENST00000475231.1_Missense_Mutation_p.S2154C|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACCTGTGGATACTGAGGA	0.567																																																	0													15.0	11.0	12.0					3																	195511990		671	1531	2202	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6461C>G	3.37:g.195511990G>C	ENSP00000417498:p.Ser2154Cys		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S2154C	ENST00000463781.3	37	c.6461	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	6.766	0.510258	0.12883	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.40225	1.22;1.04	.	.	.	.	.	.	.	.	T	0.31734	0.0806	N	0.19112	0.55	0.19945	N	0.999946	P	0.50156	0.932	P	0.49477	0.612	T	0.12528	-1.0544	7	.	.	.	.	6.7067	0.23254	2.0E-4:0.0:0.9998:0.0	.	2154	E7ESK3	.	C	2154	ENSP00000417498:S2154C;ENSP00000420243:S2154C	.	S	-	2	0	MUC4	196996385	0.005000	0.15991	0.029000	0.17559	0.097000	0.18754	1.174000	0.31932	0.488000	0.27723	0.064000	0.15345	TCC	MUC4	-	NULL		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195511990	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.986	C
MXRA5	25878	genome.wustl.edu	37	X	3239578	3239578	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:3239578G>C	ENST00000217939.6	-	5	4302	c.4148C>G	c.(4147-4149)tCa>tGa	p.S1383*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1383						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCCGTCCTTGAGGGATTCCA	0.507																																																	0													34.0	33.0	33.0					X																	3239578		2203	4299	6502	SO:0001587	stop_gained	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4148C>G	X.37:g.3239578G>C	ENSP00000217939:p.Ser1383*		Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S1383*	ENST00000217939.6	37	c.4148	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	40	8.003241	0.98605	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	2.85	-0.575	0.11734	.	2.128780	0.02909	U	0.136475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	3.7442	0.08541	0.249:0.0:0.5637:0.1873	.	.	.	.	X	1383	.	ENSP00000217939:S1383X	S	-	2	0	MXRA5	3249578	0.001000	0.12720	0.001000	0.08648	0.094000	0.18550	0.186000	0.16978	-0.116000	0.11893	0.384000	0.25694	TCA	MXRA5	-	NULL		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3239578	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	nonsense	SNP	0.001	C
MYH14	79784	genome.wustl.edu	37	19	50758564	50758564	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:50758564C>T	ENST00000596571.1	+	15	1921				MYH14_ENST00000262269.8_Missense_Mutation_p.S678F|MYH14_ENST00000376970.2_Missense_Mutation_p.S670F|MYH14_ENST00000601313.1_Missense_Mutation_p.S678F|MYH14_ENST00000598205.1_Intron|MYH14_ENST00000440075.2_Missense_Mutation_p.S678F|MYH14_ENST00000425460.1_Intron			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle						actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCTGCTATTTCTCCGCCAGGG	0.607																																																	0													62.0	58.0	59.0					19																	50758564		692	1591	2283	SO:0001627	intron_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1922-1992C>T	19.37:g.50758564C>T			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S678F	ENST00000596571.1	37	c.2033	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	1.746	-0.490389	0.04322	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000262269	D;D;D	0.87179	-2.21;-2.22;-2.21	3.96	1.76	0.24704	.	.	.	.	.	T	0.80571	0.4648	L	0.52126	1.63	0.09310	N	1	B	0.21753	0.06	B	0.21360	0.034	T	0.66344	-0.5947	9	0.33141	T	0.24	.	4.88	0.13674	0.2086:0.6813:0.0:0.1101	.	678	Q7Z406-2	.	F	678;670;678	ENSP00000406273:S678F;ENSP00000366169:S670F;ENSP00000262269:S678F	ENSP00000262269:S678F	S	+	2	0	MYH14	55450376	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.132000	0.31418	0.609000	0.30018	-0.143000	0.13931	TCT	MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	C	NM_024729		50758564	+1	no_errors	ENST00000262269	ensembl	human	known	70_37	missense	SNP	0.000	T
MYH9	4627	genome.wustl.edu	37	22	36691588	36691588	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36691588C>A	ENST00000216181.5	-	26	3678	c.3448G>T	c.(3448-3450)Gac>Tac	p.D1150Y		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1150					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCAGCGTGTCCTCCAACTCT	0.602			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													87.0	74.0	78.0					22																	36691588		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3448G>T	22.37:g.36691588C>A	ENSP00000216181:p.Asp1150Tyr		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1150Y	ENST00000216181.5	37	c.3448	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349126	0.82132	.	.	ENSG00000100345	ENST00000216181	D	0.85629	-2.01	4.56	4.56	0.56223	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.93743	0.8000	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95183	0.8301	10	0.87932	D	0	.	17.6926	0.88272	0.0:1.0:0.0:0.0	.	1150	P35579	MYH9_HUMAN	Y	1150	ENSP00000216181:D1150Y	ENSP00000216181:D1150Y	D	-	1	0	MYH9	35021534	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.776000	0.85560	2.261000	0.74972	0.561000	0.74099	GAC	MYH9	-	pfam_Myosin_tail		0.602	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36691588	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	A
MYH9	4627	genome.wustl.edu	37	22	36691764	36691764	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36691764C>T	ENST00000216181.5	-	26	3503		c.e26-1			NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCTTCCACTCTGCCAAAGCG	0.542			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													27.0	26.0	27.0					22																	36691764		2203	4299	6502	SO:0001630	splice_region_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3273-1G>A	22.37:g.36691764C>T			A8K6E4|O60805|Q60FE2|Q86T83	Splice_Site	SNP	-	e25-1	ENST00000216181.5	37	c.3273-1	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787642	0.70337	.	.	ENSG00000100345	ENST00000216181	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0348	0.89296	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH9	35021710	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.776000	0.85560	2.339000	0.79563	0.561000	0.74099	.	MYH9	-	-		0.542	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473	Intron	36691764	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	splice_site	SNP	1.000	T
MYH9	4627	genome.wustl.edu	37	22	36696217	36696217	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36696217C>G	ENST00000216181.5	-	23	3162	c.2932G>C	c.(2932-2934)Gag>Cag	p.E978Q		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	978					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATCTGCTCCTCCTCCAGCTTT	0.652			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													94.0	84.0	87.0					22																	36696217		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2932G>C	22.37:g.36696217C>G	ENSP00000216181:p.Glu978Gln		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E978Q	ENST00000216181.5	37	c.2932	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	32	5.150979	0.94645	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.76709	-1.04	5.63	5.63	0.86233	.	0.104963	0.64402	D	0.000006	D	0.85349	0.5676	M	0.91872	3.25	0.80722	D	1	P	0.48407	0.91	B	0.44044	0.439	D	0.88989	0.3413	10	0.87932	D	0	.	19.6824	0.95969	0.0:1.0:0.0:0.0	.	978	P35579	MYH9_HUMAN	Q	842;978	ENSP00000216181:E978Q	ENSP00000216181:E978Q	E	-	1	0	MYH9	35026163	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.781000	0.85668	2.665000	0.90641	0.655000	0.94253	GAG	MYH9	-	superfamily_Prefoldin		0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36696217	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH9	4627	genome.wustl.edu	37	22	36744962	36744962	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36744962G>C	ENST00000216181.5	-	2	550	c.320C>G	c.(319-321)tCa>tGa	p.S107*	MYH9_ENST00000401701.1_Nonsense_Mutation_p.S107*	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	107	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GATGAGCCCTGAGTAGTAACG	0.632			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													107.0	86.0	93.0					22																	36744962		2203	4300	6503	SO:0001587	stop_gained	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.320C>G	22.37:g.36744962G>C	ENSP00000216181:p.Ser107*		A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S107*	ENST00000216181.5	37	c.320	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907673	0.92107	.	.	ENSG00000100345	ENST00000216181;ENST00000401701	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6697	0.91506	0.0:0.0:1.0:0.0	.	.	.	.	X	107	.	ENSP00000216181:S107X	S	-	2	0	MYH9	35074908	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.421000	0.82119	0.563000	0.77884	TCA	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.632	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36744962	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	nonsense	SNP	1.000	C
MYH9	4627	genome.wustl.edu	37	22	36745184	36745184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:36745184C>T	ENST00000216181.5	-	2	328	c.98G>A	c.(97-99)tGg>tAg	p.W33*	MYH9_ENST00000401701.1_Nonsense_Mutation_p.W33*	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	33					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGAAGGCACCCATACCAGCTT	0.557			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													77.0	69.0	71.0					22																	36745184		2203	4300	6503	SO:0001587	stop_gained	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.98G>A	22.37:g.36745184C>T	ENSP00000216181:p.Trp33*		A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.W33*	ENST00000216181.5	37	c.98	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.415300	0.96092	.	.	ENSG00000100345	ENST00000216181;ENST00000401701;ENST00000456729	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9944	0.92806	0.0:1.0:0.0:0.0	.	.	.	.	X	33	.	ENSP00000216181:W33X	W	-	2	0	MYH9	35075130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.491000	0.84063	0.563000	0.77884	TGG	MYH9	-	pfam_Myosin_N,superfamily_Myosin_S1_N		0.557	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36745184	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MYNN	55892	genome.wustl.edu	37	3	169492152	169492152	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:169492152C>G	ENST00000349841.5	+	2	732	c.69C>G	c.(67-69)ctC>ctG	p.L23L	MYNN_ENST00000544106.1_Silent_p.L23L|RP11-816J6.3_ENST00000602879.1_RNA|MYNN_ENST00000356716.4_Silent_p.L23L|MYNN_ENST00000392733.1_Silent_p.L23L|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CAGGTTTTCTCTGTGACTGTA	0.428																																																	0													202.0	191.0	195.0					3																	169492152		2203	4300	6503	SO:0001819	synonymous_variant	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.69C>G	3.37:g.169492152C>G			B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L23	ENST00000349841.5	37	c.69	CCDS3207.1	3																																																																																			MYNN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold		0.428	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	C	NM_018657		169492152	+1	no_errors	ENST00000349841	ensembl	human	known	70_37	silent	SNP	0.994	G
MYO10	4651	genome.wustl.edu	37	5	16711116	16711116	+	Missense_Mutation	SNP	C	C	G	rs376331087		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:16711116C>G	ENST00000513610.1	-	21	2524	c.2070G>C	c.(2068-2070)atG>atC	p.M690I	MYO10_ENST00000274203.9_Missense_Mutation_p.M47I|MYO10_ENST00000515803.1_Missense_Mutation_p.M29I|MYO10_ENST00000427430.2_Missense_Mutation_p.M47I|MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000505695.1_Missense_Mutation_p.M29I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	690	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCAGATTCCTCATCAGCACTT	0.532																																																	0													47.0	48.0	48.0					5																	16711116		2048	4201	6249	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2070G>C	5.37:g.16711116C>G	ENSP00000421280:p.Met690Ile		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.M690I	ENST00000513610.1	37	c.2070	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805141	0.31961	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430;ENST00000513882	T;D;D;D;D;T	0.95035	-0.53;-3.59;-3.59;-3.59;-3.59;-0.53	5.26	5.26	0.73747	Myosin head, motor domain (2);	.	.	.	.	D	0.91348	0.7271	L	0.39692	1.235	0.58432	D	0.999998	B;B	0.24317	0.101;0.001	B;B	0.21917	0.037;0.005	D	0.88033	0.2776	9	0.18276	T	0.48	.	18.8714	0.92317	0.0:1.0:0.0:0.0	.	331;690	Q69YP8;Q9HD67	.;MYO10_HUMAN	I	690;29;47;29;47;701	ENSP00000421280:M690I;ENSP00000425051:M29I;ENSP00000274203:M47I;ENSP00000421170:M29I;ENSP00000391106:M47I;ENSP00000421309:M701I	ENSP00000274203:M47I	M	-	3	0	MYO10	16764116	1.000000	0.71417	0.930000	0.37139	0.759000	0.43091	5.920000	0.70017	2.447000	0.82792	0.462000	0.41574	ATG	MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.532	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	C	NM_012334		16711116	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	missense	SNP	1.000	G
MYO15B	80022	genome.wustl.edu	37	17	73585671	73585671	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:73585671G>C	ENST00000578382.2	+	0	1533					NR_003587.2		Q96JP2	MY15B_HUMAN	myosin XVB pseudogene							cytoplasm (GO:0005737)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)										GGGGTATGCCGAGGGCTTCCC	0.697																																																	0																																										SO:0001624	3_prime_UTR_variant	80022					17q25.1	2014-07-16			ENSG00000266714	ENSG00000266714		"""Myosins / Myosin superfamily : Class XV"""	14083	pseudogene	pseudogene						11294886	Standard	NR_003587		Approved	MYO15BP	uc002jon.1	Q96JP2	OTTHUMG00000179794	ENST00000578382.2:c.*1530G>C	17.37:g.73585671G>C				RNA	SNP	-	NULL	ENST00000578382.2	37	NULL		17																																																																																			MYO15B	-	-		0.697	MYO15B-001	KNOWN	sequence_error|basic	processed_transcript	MYO15B	Uniprot_genename	protein_coding	OTTHUMT00000448172.2	G	NR_003587		73585671	+1	no_errors	ENST00000578382	ensembl	human	known	70_37	rna	SNP	0.000	C
MYO1F	4542	genome.wustl.edu	37	19	8616752	8616752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:8616752C>A	ENST00000338257.8	-	8	910	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	215	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GAGGCCCCTTCCAGCAGCTGG	0.597																																																	0													119.0	126.0	123.0					19																	8616752		2111	4219	6330	SO:0001587	stop_gained	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.643G>T	19.37:g.8616752C>A	ENSP00000344871:p.Glu215*		Q8WWN7	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.E215*	ENST00000338257.8	37	c.643	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.753695	0.96890	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	.	.	.	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4299	0.55569	0.0:0.8302:0.1698:0.0	.	.	.	.	X	260;215	.	ENSP00000304899:E260X	E	-	1	0	MYO1F	8522752	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	4.556000	0.60775	1.958000	0.56883	0.460000	0.39030	GAA	MYO1F	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.597	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	C			8616752	-1	no_errors	ENST00000338257	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MYT1L	23040	genome.wustl.edu	37	2	1820502	1820502	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:1820502C>G	ENST00000399161.2	-	22	3828				MYT1L_ENST00000428368.2_Intron|MYT1L_ENST00000407844.1_Intron|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCGCTTCTTTCAAGGCCACTG	0.597																																																	0																																										SO:0001627	intron_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3081-7563G>C	2.37:g.1820502C>G			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	RNA	SNP	-	NULL	ENST00000399161.2	37	NULL		2																																																																																			MYT1L	-	-		0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1820502	-1	no_errors	ENST00000471668	ensembl	human	known	70_37	rna	SNP	0.001	G
MYT1L	23040	genome.wustl.edu	37	2	1895843	1895843	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:1895843A>G	ENST00000399161.2	-	15	2996	c.2249T>C	c.(2248-2250)cTg>cCg	p.L750P	MYT1L_ENST00000428368.2_Missense_Mutation_p.L748P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	750					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTGGTGCTCAGGTTCTGCGG	0.716																																																	0													12.0	21.0	18.0					2																	1895843		1713	3183	4896	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2249T>C	2.37:g.1895843A>G	ENSP00000382114:p.Leu750Pro		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.L750P	ENST00000399161.2	37	c.2249		2	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710016	0.89018	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.62105	0.05;0.05	4.93	4.93	0.64822	Myelin transcription factor 1 (1);	0.238696	0.39083	N	0.001465	T	0.79323	0.4426	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.952	T	0.82874	-0.0241	10	0.87932	D	0	-21.6021	14.5772	0.68258	1.0:0.0:0.0:0.0	.	750;748	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	P	750;696;748	ENSP00000382114:L750P;ENSP00000396103:L748P	ENSP00000295067:L696P	L	-	2	0	MYT1L	1874850	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.173000	0.94815	1.863000	0.54032	0.383000	0.25322	CTG	MYT1L	-	pfam_Myelin_TF		0.716	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	A	NM_015025		1895843	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	missense	SNP	1.000	G
NAA15	80155	genome.wustl.edu	37	4	140272765	140272765	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:140272765G>C	ENST00000296543.5	+	9	1337	c.1014G>C	c.(1012-1014)aaG>aaC	p.K338N	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Splice_Site_p.K338N	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	338					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACAAAGAAAAGGTAAAGTGAA	0.333																																																	0													78.0	77.0	77.0					4																	140272765		1824	4074	5898	SO:0001630	splice_region_variant	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1014+1G>C	4.37:g.140272765G>C			D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K338N	ENST00000296543.5	37	c.1014	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099560	0.76983	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.69435	-0.4;-0.4	5.93	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	M	0.87456	2.885	0.80722	D	1	D	0.64830	0.994	D	0.67382	0.951	D	0.86144	0.1583	10	0.62326	D	0.03	-16.2219	15.2962	0.73910	0.0671:0.0:0.9329:0.0	.	338	Q9BXJ9	NAA15_HUMAN	N	338;212;338	ENSP00000296543:K338N;ENSP00000381920:K338N	ENSP00000296543:K338N	K	+	3	2	NAA15	140492215	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	9.359000	0.97115	1.517000	0.48917	-0.300000	0.09419	AAG	NAA15	-	pirsf_NatA_aux_su		0.333	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175	Missense_Mutation	140272765	+1	no_errors	ENST00000296543	ensembl	human	known	70_37	missense	SNP	1.000	C
NAA15	80155	genome.wustl.edu	37	4	140297522	140297522	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:140297522G>A	ENST00000296543.5	+	16	2274	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	NAA15_ENST00000398947.1_Missense_Mutation_p.E651K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	651	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTGTTAGGTTGAAACTCCATT	0.269																																																	0													71.0	67.0	69.0					4																	140297522		1792	4058	5850	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1951G>A	4.37:g.140297522G>A	ENSP00000296543:p.Glu651Lys		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E651K	ENST00000296543.5	37	c.1951	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.231739	0.95207	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.43688	0.94;0.94	5.63	5.63	0.86233	.	0.052470	0.64402	D	0.000001	T	0.47002	0.1422	L	0.35249	1.045	0.80722	D	1	B	0.26577	0.153	B	0.43536	0.423	T	0.31251	-0.9950	10	0.21014	T	0.42	-17.8006	19.6818	0.95967	0.0:0.0:1.0:0.0	.	651	Q9BXJ9	NAA15_HUMAN	K	651;525;651	ENSP00000296543:E651K;ENSP00000381920:E651K	ENSP00000296543:E651K	E	+	1	0	NAA15	140516972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.641000	0.89580	0.591000	0.81541	GAA	NAA15	-	pfam_NatA_aux_su,pirsf_NatA_aux_su		0.269	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140297522	+1	no_errors	ENST00000296543	ensembl	human	known	70_37	missense	SNP	1.000	A
NAA15	80155	genome.wustl.edu	37	4	140297537	140297537	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:140297537G>A	ENST00000296543.5	+	16	2289	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	NAA15_ENST00000398947.1_Missense_Mutation_p.E656K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	656	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.E656*(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCCATTGGAAGAAGCTATTAA	0.294																																																	1	Substitution - Nonsense(1)	large_intestine(1)											85.0	80.0	81.0					4																	140297537		1797	4064	5861	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1966G>A	4.37:g.140297537G>A	ENSP00000296543:p.Glu656Lys		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E656K	ENST00000296543.5	37	c.1966	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006771	0.74932	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.51071	0.72;0.72	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.59247	-0.7490	10	0.28530	T	0.3	-17.8006	19.6622	0.95877	0.0:0.0:1.0:0.0	.	656	Q9BXJ9	NAA15_HUMAN	K	656;530;656	ENSP00000296543:E656K;ENSP00000381920:E656K	ENSP00000296543:E656K	E	+	1	0	NAA15	140516987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.637000	0.89404	0.585000	0.79938	GAA	NAA15	-	pfam_NatA_aux_su,pirsf_NatA_aux_su		0.294	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140297537	+1	no_errors	ENST00000296543	ensembl	human	known	70_37	missense	SNP	1.000	A
NAA50	80218	genome.wustl.edu	37	3	113440729	113440729	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:113440729C>G	ENST00000240922.3	-	5	712	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	NAA50_ENST00000467022.1_5'Flank|NAA50_ENST00000493454.1_Missense_Mutation_p.E56Q|NAA50_ENST00000493900.1_Missense_Mutation_p.E129Q|NAA50_ENST00000497255.1_Intron|NAA50_ENST00000497525.1_Missense_Mutation_p.E56Q|NAA50_ENST00000477813.1_Missense_Mutation_p.E90Q	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	130	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				histone H4 acetylation (GO:0043967)|mitotic sister chromatid cohesion, centromeric (GO:0071962)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)|peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0052858)			large_intestine(2)|lung(2)|skin(1)	5						TCAATAATCTCAAAGCCAAAC	0.388																																																	0													108.0	106.0	107.0					3																	113440729		2203	4300	6503	SO:0001583	missense	80218			AK023256	CCDS2975.1	3q13.31	2010-05-07	2010-01-14	2010-01-14	ENSG00000121579	ENSG00000121579	2.3.1.-	"""N(alpha)-acetyltransferase subunits"""	29533	protein-coding gene	gene with protein product		610834	"""Mak3 homolog (S. cerevisiae)"", ""N-acetyltransferase 13"", ""N-acetyltransferase 13 (GCN5-related)"""	MAK3, NAT13		16507339, 17502424, 19660095	Standard	NM_025146		Approved	FLJ13194, NAT5, San	uc003ean.2	Q9GZZ1	OTTHUMG00000159294	ENST00000240922.3:c.388G>C	3.37:g.113440729C>G	ENSP00000240922:p.Glu130Gln		D3DN74|Q68DQ1	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.E130Q	ENST00000240922.3	37	c.388	CCDS2975.1	3	.	.	.	.	.	.	.	.	.	.	.	13.65	2.300704	0.40694	.	.	ENSG00000121579	ENST00000240922;ENST00000313396;ENST00000477813;ENST00000497525;ENST00000493454;ENST00000493900	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.71	4.82	0.62117	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.046260	0.85682	D	0.000000	T	0.27454	0.0674	L	0.52364	1.645	0.58432	D	0.999999	B	0.02656	0.0	B	0.11329	0.006	T	0.03025	-1.1081	10	0.48119	T	0.1	-20.7401	15.8599	0.79014	0.1367:0.8633:0.0:0.0	.	130	Q9GZZ1	NAA50_HUMAN	Q	130;42;90;56;56;129	ENSP00000240922:E130Q;ENSP00000417110:E90Q;ENSP00000417488:E56Q;ENSP00000418473:E56Q;ENSP00000417837:E129Q	ENSP00000240922:E130Q	E	-	1	0	NAA50	114923419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.759000	0.68785	1.374000	0.46228	0.655000	0.94253	GAG	NAA50	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.388	NAA50-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA50	HGNC	protein_coding	OTTHUMT00000354446.2	C	NM_025146		113440729	-1	no_errors	ENST00000240922	ensembl	human	known	70_37	missense	SNP	1.000	G
NAALADL1	10004	genome.wustl.edu	37	11	64812806	64812806	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:64812806G>C	ENST00000358658.3	-	18	2187	c.2160C>G	c.(2158-2160)ctC>ctG	p.L720L	NAALADL1_ENST00000355721.3_Silent_p.L679L|NAALADL1_ENST00000356632.3_Silent_p.L685L|NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000340252.4_Silent_p.L771L|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000526799.1_Silent_p.L67L	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	720						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCACAATGCTGAGCTGTCTCT	0.617																																																	0													34.0	32.0	33.0					11																	64812806		2200	4296	6496	SO:0001819	synonymous_variant	10004			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.2160C>G	11.37:g.64812806G>C			C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.L720	ENST00000358658.3	37	c.2160	CCDS31604.1	11																																																																																			NAALADL1	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom		0.617	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL1	HGNC	protein_coding	OTTHUMT00000385162.1	G	NM_005468		64812806	-1	no_errors	ENST00000358658	ensembl	human	known	70_37	silent	SNP	1.000	C
NADK	65220	genome.wustl.edu	37	1	1688672	1688672	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:1688672C>G	ENST00000341426.5	-	4	562	c.341G>C	c.(340-342)aGa>aCa	p.R114T	NADK_ENST00000342348.5_Missense_Mutation_p.R82T|NADK_ENST00000378625.1_Missense_Mutation_p.R218T|NADK_ENST00000341991.3_Missense_Mutation_p.R114T|NADK_ENST00000344463.4_Missense_Mutation_p.R218T|NADK_ENST00000492768.1_5'UTR	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	114					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCTGGCATCTCTCATCTTCTT	0.607																																																	0													96.0	96.0	96.0					1																	1688672		2203	4300	6503	SO:0001583	missense	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.341G>C	1.37:g.1688672C>G	ENSP00000341679:p.Arg114Thr		A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	p.R218T	ENST00000341426.5	37	c.653	CCDS30565.1	1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507260	0.44558	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.49720	0.95;0.95;0.77;0.77;0.95;0.95	5.74	3.74	0.42951	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.059738	0.64402	D	0.000004	T	0.56572	0.1994	M	0.86651	2.83	0.37577	D	0.919675	P;P;P	0.46859	0.696;0.885;0.741	B;P;B	0.46585	0.373;0.521;0.405	T	0.63488	-0.6626	10	0.45353	T	0.12	-25.4528	9.3625	0.38203	0.0:0.7731:0.1411:0.0858	.	82;218;114	F5GXR5;Q5QPS4;O95544	.;.;NADK_HUMAN	T	114;114;218;218;82;82	ENSP00000341679:R114T;ENSP00000344340:R114T;ENSP00000367890:R218T;ENSP00000340925:R218T;ENSP00000339727:R82T;ENSP00000383713:R82T	ENSP00000341679:R114T	R	-	2	0	NADK	1678532	0.985000	0.35326	0.086000	0.20670	0.015000	0.08874	3.010000	0.49559	0.656000	0.30886	0.561000	0.74099	AGA	NADK	-	NULL		0.607	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	HGNC	protein_coding	OTTHUMT00000002769.1	C	NM_023018		1688672	-1	no_errors	ENST00000344463	ensembl	human	known	70_37	missense	SNP	0.906	G
NAF1	92345	genome.wustl.edu	37	4	164085493	164085493	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:164085493G>A	ENST00000274054.2	-	2	609	c.416C>T	c.(415-417)tCa>tTa	p.S139L	NAF1_ENST00000422287.2_Missense_Mutation_p.S139L	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	139	Ser-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				agacgacgatgaggaagatga	0.343																																																	0													70.0	72.0	71.0					4																	164085493		2202	4300	6502	SO:0001583	missense	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.416C>T	4.37:g.164085493G>A	ENSP00000274054:p.Ser139Leu		D3DP28|E9PAZ2	Missense_Mutation	SNP	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel	p.S139L	ENST00000274054.2	37	c.416	CCDS3803.1	4	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693088	0.48202	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.47177	1.27;0.85	4.42	4.42	0.53409	.	0.168657	0.39687	N	0.001290	T	0.40886	0.1135	N	0.08118	0	0.40078	D	0.976092	P;P	0.51653	0.947;0.909	P;P	0.55965	0.788;0.587	T	0.39396	-0.9616	10	0.35671	T	0.21	-8.7233	13.2352	0.59965	0.0:0.0:1.0:0.0	.	139;139	E9PAZ2;Q96HR8	.;NAF1_HUMAN	L	139	ENSP00000408963:S139L;ENSP00000274054:S139L	ENSP00000274054:S139L	S	-	2	0	NAF1	164304943	0.996000	0.38824	0.503000	0.27626	0.109000	0.19521	3.130000	0.50508	2.395000	0.81488	0.467000	0.42956	TCA	NAF1	-	NULL		0.343	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAF1	HGNC	protein_coding	OTTHUMT00000364684.2	G	NM_138386		164085493	-1	no_errors	ENST00000274054	ensembl	human	known	70_37	missense	SNP	0.996	A
NAGLU	4669	genome.wustl.edu	37	17	40690485	40690485	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:40690485C>G	ENST00000225927.2	+	3	761	c.660C>G	c.(658-660)atC>atG	p.I220M	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	220					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTGGCACATCAAGCAGCTTT	0.587																																																	0			GRCh37	CD023526	NAGLU	D							60.0	67.0	65.0					17																	40690485		2203	4300	6503	SO:0001583	missense	4669				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.660C>G	17.37:g.40690485C>G	ENSP00000225927:p.Ile220Met			Missense_Mutation	SNP	pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF	p.I220M	ENST00000225927.2	37	c.660	CCDS11427.1	17	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428921	0.25726	.	.	ENSG00000108784	ENST00000225927	D	0.97888	-4.59	5.42	3.08	0.35506	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.208574	0.41938	D	0.000791	D	0.93187	0.7830	N	0.22421	0.69	0.24182	N	0.995585	B	0.26775	0.159	B	0.27262	0.078	D	0.87485	0.2423	10	0.46703	T	0.11	-21.2764	7.4921	0.27469	0.0:0.6807:0.1434:0.1759	.	220	P54802	ANAG_HUMAN	M	220	ENSP00000225927:I220M	ENSP00000225927:I220M	I	+	3	3	NAGLU	37944011	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	0.612000	0.24283	1.280000	0.44463	0.555000	0.69702	ATC	NAGLU	-	pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF		0.587	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGLU	HGNC	protein_coding	OTTHUMT00000450385.1	C	NM_000263		40690485	+1	no_errors	ENST00000225927	ensembl	human	known	70_37	missense	SNP	1.000	G
NAGS	162417	genome.wustl.edu	37	17	42082117	42082117	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:42082117G>A	ENST00000293404.3	+	1	204	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	29	Amino-acid kinase domain (AAK).				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGGGCGCCCGAAGGCTGAGC	0.761																																																	0													8.0	11.0	10.0					17																	42082117		1761	3732	5493	SO:0001583	missense	162417			AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.86G>A	17.37:g.42082117G>A	ENSP00000293404:p.Arg29Gln		B2RAZ9|Q8IWR4	Missense_Mutation	SNP	pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom	p.R29Q	ENST00000293404.3	37	c.86	CCDS11473.1	17	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023896	0.75390	.	.	ENSG00000161653	ENST00000293404	D	0.97016	-4.21	4.48	3.48	0.39840	.	0.090154	0.42548	D	0.000700	D	0.90310	0.6969	L	0.29908	0.895	0.28206	N	0.927153	P	0.50443	0.935	B	0.36608	0.229	D	0.86279	0.1666	10	0.48119	T	0.1	-20.5077	8.6247	0.33881	0.109:0.0:0.891:0.0	.	29	Q8N159	NAGS_HUMAN	Q	29	ENSP00000293404:R29Q	ENSP00000293404:R29Q	R	+	2	0	NAGS	39437643	0.607000	0.26958	0.846000	0.33378	0.078000	0.17371	1.043000	0.30316	2.298000	0.77334	0.455000	0.32223	CGA	NAGS	-	pirsf_GlcNAc_Synth_met		0.761	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGS	HGNC	protein_coding	OTTHUMT00000457660.1	G	NM_153006		42082117	+1	no_errors	ENST00000293404	ensembl	human	known	70_37	missense	SNP	0.593	A
NAIP	4671	genome.wustl.edu	37	5	70308577	70308577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:70308577G>A	ENST00000517649.1	-	4	456	c.166C>T	c.(166-168)Caa>Taa	p.Q56*	NAIP_ENST00000194097.4_Nonsense_Mutation_p.Q56*|NAIP_ENST00000508426.2_Nonsense_Mutation_p.Q56*|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	56					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTGCGCATTTGAGAGTTGTAG	0.483																																																	0													190.0	171.0	177.0					5																	70308577		2202	4296	6498	SO:0001587	stop_gained	4671			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.166C>T	5.37:g.70308577G>A	ENSP00000428657:p.Gln56*		B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Nonsense_Mutation	SNP	pfam_BIR,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR	p.Q56*	ENST00000517649.1	37	c.166	CCDS4009.1	5	.	.	.	.	.	.	.	.	.	.	g	11.86	1.763589	0.31228	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	.	.	.	3.06	1.05	0.20165	.	0.593381	0.12708	U	0.445797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	1.762	0.02994	0.1119:0.1692:0.3001:0.4188	.	.	.	.	X	56	.	ENSP00000443944:Q56X	Q	-	1	0	NAIP	70344333	0.000000	0.05858	0.003000	0.11579	0.080000	0.17528	0.048000	0.14078	0.234000	0.21139	0.430000	0.28490	CAA	NAIP	-	NULL		0.483	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIP	HGNC	protein_coding	OTTHUMT00000372649.6	G	NM_004536		70308577	-1	no_errors	ENST00000194097	ensembl	human	known	70_37	nonsense	SNP	0.002	A
NAP1L3	4675	genome.wustl.edu	37	X	92928474	92928474	+	5'UTR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:92928474G>A	ENST00000373079.3	-	0	93				FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3						nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ggccggcgctgaggtggcagc	0.726																																																	0																																										SO:0001623	5_prime_UTR_variant	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.-171C>T	X.37:g.92928474G>A			B2RCM0|O60788	RNA	SNP	-	NULL	ENST00000373079.3	37	NULL	CCDS14465.1	X																																																																																			NAP1L3	-	-		0.726	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	G	NM_004538		92928474	-1	no_errors	ENST00000475430	ensembl	human	known	70_37	rna	SNP	0.000	A
NAPB	63908	genome.wustl.edu	37	20	23375564	23375564	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:23375564C>G	ENST00000377026.4	-	5	500	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	NAPB_ENST00000432543.2_Missense_Mutation_p.E100Q|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_Missense_Mutation_p.E45Q	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	139					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CTTACCTTCTCAATGTCTACA	0.448																																																	0													164.0	127.0	139.0					20																	23375564		2203	4300	6503	SO:0001583	missense	63908			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.415G>C	20.37:g.23375564C>G	ENSP00000366225:p.Glu139Gln		B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	prints_NSF_attach	p.E139Q	ENST00000377026.4	37	c.415	CCDS13152.1	20	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986196	0.74589	.	.	ENSG00000125814	ENST00000377026;ENST00000398425;ENST00000432543;ENST00000431864	T;T;T	0.79033	-1.23;-1.23;-1.23	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.72624	2.21	0.80722	D	1	B;D;P;B	0.63880	0.439;0.993;0.694;0.439	B;D;B;B	0.68192	0.248;0.956;0.328;0.248	D	0.87045	0.2143	10	0.49607	T	0.09	-4.6096	18.2906	0.90129	0.0:1.0:0.0:0.0	.	100;45;143;139	B4DK44;Q4G0M0;B4DIV0;Q9H115	.;.;.;SNAB_HUMAN	Q	139;45;100;96	ENSP00000366225:E139Q;ENSP00000381459:E45Q;ENSP00000413600:E100Q	ENSP00000366225:E139Q	E	-	1	0	NAPB	23323564	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	7.702000	0.84576	2.565000	0.86533	0.555000	0.69702	GAG	NAPB	-	prints_NSF_attach		0.448	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPB	HGNC	protein_coding	OTTHUMT00000078317.2	C	NM_022080		23375564	-1	no_errors	ENST00000377026	ensembl	human	known	70_37	missense	SNP	1.000	G
NAPB	63908	genome.wustl.edu	37	20	23401954	23401954	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:23401954C>T	ENST00000377026.4	-	1	171	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	NAPB_ENST00000432543.2_Missense_Mutation_p.R29Q|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_5'UTR	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	29					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					AAACAGCCCTCGGAGGAAGGA	0.697																																																	0													47.0	33.0	37.0					20																	23401954		2183	4255	6438	SO:0001583	missense	63908			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.86G>A	20.37:g.23401954C>T	ENSP00000366225:p.Arg29Gln		B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	prints_NSF_attach	p.R29Q	ENST00000377026.4	37	c.86	CCDS13152.1	20	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244582	0.59103	.	.	ENSG00000125814	ENST00000377026;ENST00000432543	T;T	0.75938	-0.98;-0.98	4.72	4.72	0.59763	Tetratricopeptide-like helical (1);	0.276682	0.34777	N	0.003685	T	0.54919	0.1888	N	0.08118	0	0.80722	D	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.04013	0.001;0.001;0.0	T	0.51268	-0.8727	10	0.17832	T	0.49	-15.3436	16.4136	0.83727	0.0:1.0:0.0:0.0	.	29;29;29	B4DK44;B4DIV0;Q9H115	.;.;SNAB_HUMAN	Q	29	ENSP00000366225:R29Q;ENSP00000413600:R29Q	ENSP00000366225:R29Q	R	-	2	0	NAPB	23349954	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	4.395000	0.59678	2.446000	0.82766	0.563000	0.77884	CGA	NAPB	-	NULL		0.697	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPB	HGNC	protein_coding	OTTHUMT00000078317.2	C	NM_022080		23401954	-1	no_errors	ENST00000377026	ensembl	human	known	70_37	missense	SNP	1.000	T
NAT9	26151	genome.wustl.edu	37	17	72768120	72768120	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:72768120G>T	ENST00000357814.3	-	6	541	c.468C>A	c.(466-468)ttC>ttA	p.F156L	NAT9_ENST00000581136.1_Missense_Mutation_p.F151L|NAT9_ENST00000583757.1_Intron|NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000578822.1_Missense_Mutation_p.F161L|NAT9_ENST00000582524.1_Intron|NAT9_ENST00000582870.1_Missense_Mutation_p.F160L|NAT9_ENST00000583476.1_Intron|NAT9_ENST00000580632.1_Missense_Mutation_p.F156L|NAT9_ENST00000580301.1_Missense_Mutation_p.F155L	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	156	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GAAGTTTCTGGAACATCCGGA	0.527																																																	0													163.0	158.0	160.0					17																	72768120		2203	4300	6503	SO:0001583	missense	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.468C>A	17.37:g.72768120G>T	ENSP00000350467:p.Phe156Leu		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.F156L	ENST00000357814.3	37	c.468	CCDS11706.1	17	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479213	0.44044	.	.	ENSG00000109065	ENST00000357814	T	0.36520	1.25	5.09	3.06	0.35304	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.55792	-0.8085	10	0.66056	D	0.02	-17.8313	12.3453	0.55118	0.1461:0.0:0.8539:0.0	.	155;156	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	L	156	ENSP00000350467:F156L	ENSP00000350467:F156L	F	-	3	2	NAT9	70279715	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.382000	0.59594	1.286000	0.44565	0.561000	0.74099	TTC	NAT9	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase		0.527	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	G	NM_015654		72768120	-1	no_errors	ENST00000357814	ensembl	human	known	70_37	missense	SNP	1.000	T
NAV1	89796	genome.wustl.edu	37	1	201749586	201749586	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:201749586G>A	ENST00000367296.4	+	4	1684	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	NAV1_ENST00000295624.6_Missense_Mutation_p.D422N|NAV1_ENST00000367297.4_Missense_Mutation_p.D422N|NAV1_ENST00000367300.3_Missense_Mutation_p.D422N|NAV1_ENST00000367302.1_Missense_Mutation_p.D435N|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.D31N	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	422					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGACTCAGCGATGCCTCAGA	0.468																																																	0													132.0	119.0	123.0					1																	201749586		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1264G>A	1.37:g.201749586G>A	ENSP00000356265:p.Asp422Asn		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.D422N	ENST00000367296.4	37	c.1264	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	G	36	5.674637	0.96764	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	T;T;T;T;T;T	0.19250	2.16;2.41;2.42;2.43;2.16;2.39	5.42	5.42	0.78866	.	0.169991	0.49916	D	0.000123	T	0.49270	0.1547	M	0.76170	2.325	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.87578	0.998;0.776;0.998	T	0.46359	-0.9197	10	0.51188	T	0.08	-19.0269	18.8379	0.92169	0.0:0.0:1.0:0.0	.	31;422;422	Q8NEY1-5;Q8NEY1;Q8NEY1-3	.;NAV1_HUMAN;.	N	435;422;422;422;422;31	ENSP00000356271:D435N;ENSP00000356265:D422N;ENSP00000295624:D422N;ENSP00000356266:D422N;ENSP00000356269:D422N;ENSP00000356264:D31N	ENSP00000295624:D422N	D	+	1	0	NAV1	200016209	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.649000	0.98487	2.531000	0.85337	0.655000	0.94253	GAT	NAV1	-	NULL		0.468	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201749586	+1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	1.000	A
NAV3	89795	genome.wustl.edu	37	12	78334875	78334875	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:78334875G>A	ENST00000397909.2	+	3	549	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	NAV3_ENST00000536525.2_Missense_Mutation_p.E126K|NAV3_ENST00000228327.6_Missense_Mutation_p.E126K|NAV3_ENST00000266692.7_Missense_Mutation_p.E126K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	126	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGAAAAAGTTGAAGATATCAA	0.318										HNSCC(70;0.22)																																							0													76.0	75.0	75.0					12																	78334875		1810	4089	5899	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.376G>A	12.37:g.78334875G>A	ENSP00000381007:p.Glu126Lys		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E126K	ENST00000397909.2	37	c.376		12	.	.	.	.	.	.	.	.	.	.	G	33	5.209965	0.95069	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62	5.56	5.56	0.83823	Calponin homology domain (5);	0.000000	0.39210	U	0.001430	D	0.95468	0.8528	L	0.31420	0.93	0.80722	D	1	D;D	0.64830	0.994;0.993	D;D	0.80764	0.994;0.992	D	0.95431	0.8516	10	0.48119	T	0.1	-22.2587	19.5379	0.95262	0.0:0.0:1.0:0.0	.	126;126	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	K	126	ENSP00000446628:E126K;ENSP00000446132:E126K;ENSP00000381007:E126K;ENSP00000228327:E126K;ENSP00000266692:E126K	ENSP00000228327:E126K	E	+	1	0	NAV3	76859006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.584000	0.98220	2.621000	0.88768	0.551000	0.68910	GAA	NAV3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.318	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78334875	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	A
NBAS	51594	genome.wustl.edu	37	2	15555687	15555687	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:15555687G>A	ENST00000281513.5	-	25	2945	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	974					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q974*(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTGGAATGCTGAAATATCTTC	0.343																																																	1	Substitution - Nonsense(1)	lung(1)											56.0	62.0	60.0					2																	15555687		2203	4299	6502	SO:0001587	stop_gained	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2920C>T	2.37:g.15555687G>A	ENSP00000281513:p.Gln974*		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.Q974*	ENST00000281513.5	37	c.2920	CCDS1685.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.947927|9.947927	0.99302|0.99302	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000281513|ENST00000429842	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77638	.|0.4160	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73658	.|-0.3913	.|4	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	974|71	.|.	ENSP00000281513:Q974X|.	Q|S	-|-	1|2	0|0	NBAS|NBAS	15473138|15473138	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.231000|6.231000	0.72307|0.72307	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA	NBAS	-	pfam_Sec39		0.343	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	G	NM_015909		15555687	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NBEAL1	65065	genome.wustl.edu	37	2	204000956	204000956	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:204000956C>G	ENST00000449802.1	+	27	4616	c.4283C>G	c.(4282-4284)tCt>tGt	p.S1428C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1428										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATGACTTCTCTTTACTTGAA	0.363																																																	0													63.0	59.0	60.0					2																	204000956		1868	4103	5971	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4283C>G	2.37:g.204000956C>G	ENSP00000399903:p.Ser1428Cys		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1428C	ENST00000449802.1	37	c.4283	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108805	0.56398	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.58506	0.33	5.31	3.22	0.36961	.	0.245083	0.33327	U	0.005033	T	0.63850	0.2546	L	0.50333	1.59	0.53688	D	0.99997	D;D	0.71674	0.998;0.998	P;P	0.60173	0.87;0.87	T	0.65590	-0.6131	10	0.72032	D	0.01	.	9.5906	0.39543	0.0:0.8023:0.0:0.1977	.	1428;1417	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	C	1428	ENSP00000399903:S1428C	ENSP00000344985:S1428C	S	+	2	0	NBEAL1	203709201	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.162000	0.50755	1.130000	0.42092	0.655000	0.94253	TCT	NBEAL1	-	NULL		0.363	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			204000956	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	1.000	G
NBPF10	100132406	genome.wustl.edu	37	1	145326060	145326060	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:145326060G>A	ENST00000342960.5	+	30	3968	c.3933G>A	c.(3931-3933)caG>caA	p.Q1311Q	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	654						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACTCATGCCAGCCCTACAGAA	0.473																																																	0																																										SO:0001819	synonymous_variant	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3933G>A	1.37:g.145326060G>A			Q5RHC0|Q9NWN6	Silent	SNP	pfam_NBPF_dom	p.Q1311	ENST00000342960.5	37	c.3933	CCDS53355.1	1																																																																																			NBPF10	-	pfam_NBPF_dom		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	HGNC	protein_coding		G	NM_001039703		145326060	+1	no_errors	ENST00000342960	ensembl	human	known	70_37	silent	SNP	0.008	A
NCAN	1463	genome.wustl.edu	37	19	19327807	19327807	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:19327807G>C	ENST00000252575.6	+	2	144	c.45G>C	c.(43-45)caG>caC	p.Q15H		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	15					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TGATGCTGCAGATGCTGCTCT	0.577																																																	0													143.0	145.0	144.0					19																	19327807		2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.45G>C	19.37:g.19327807G>C	ENSP00000252575:p.Gln15His		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.Q15H	ENST00000252575.6	37	c.45	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	G	4.493	0.091451	0.08632	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.84146	-1.81	5.02	1.7	0.24286	.	0.766119	0.10733	N	0.640404	T	0.74809	0.3765	N	0.19112	0.55	0.09310	N	1	P	0.50943	0.94	P	0.46975	0.533	T	0.62520	-0.6837	10	0.15499	T	0.54	.	6.6967	0.23203	0.2958:0.0:0.7042:0.0	.	15	O14594	NCAN_HUMAN	H	29;15	ENSP00000252575:Q15H	ENSP00000252575:Q15H	Q	+	3	2	NCAN	19188807	0.001000	0.12720	0.005000	0.12908	0.072000	0.16883	0.473000	0.22132	0.629000	0.30376	0.650000	0.86243	CAG	NCAN	-	NULL		0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	G	NM_004386		19327807	+1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	0.012	C
NCOA6	23054	genome.wustl.edu	37	20	33338291	33338291	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:33338291C>G	ENST00000374796.2	-	10	4277	c.1707G>C	c.(1705-1707)caG>caC	p.Q569H	NCOA6_ENST00000359003.2_Missense_Mutation_p.Q569H			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	569	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACACCTGCATCTGGTTTTGAG	0.433																																																	0													41.0	43.0	43.0					20																	33338291		2203	4299	6502	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1707G>C	20.37:g.33338291C>G	ENSP00000363929:p.Gln569His		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.Q569H	ENST00000374796.2	37	c.1707	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689505	0.48097	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.36157	1.27;1.27	6.07	4.16	0.48862	.	0.000000	0.64402	D	0.000004	T	0.16727	0.0402	N	0.08118	0	0.42039	D	0.991064	P	0.35272	0.493	B	0.23275	0.045	T	0.06092	-1.0846	10	0.33141	T	0.24	-3.0597	12.7504	0.57306	0.0:0.8683:0.0:0.1317	.	569	Q14686	NCOA6_HUMAN	H	569	ENSP00000363929:Q569H;ENSP00000351894:Q569H	ENSP00000351894:Q569H	Q	-	3	2	NCOA6	32801952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.931000	0.40134	0.912000	0.36772	0.655000	0.94253	CAG	NCOA6	-	NULL		0.433	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	C	NM_014071		33338291	-1	no_errors	ENST00000359003	ensembl	human	known	70_37	missense	SNP	1.000	G
NDC80	10403	genome.wustl.edu	37	18	2585130	2585130	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:2585130G>A	ENST00000261597.4	+	7	780	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	200	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TGCCATGAAAGAAAGCTCACC	0.338																																																	0													100.0	97.0	98.0					18																	2585130		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.598G>A	18.37:g.2585130G>A	ENSP00000261597:p.Glu200Lys		Q6PJX2	Missense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.E200K	ENST00000261597.4	37	c.598	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093575	0.20471	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.64803	-0.12	5.2	4.32	0.51571	.	0.430422	0.29459	N	0.012081	T	0.51652	0.1687	L	0.42245	1.32	0.51482	D	0.99992	B	0.15473	0.013	B	0.12837	0.008	T	0.45483	-0.9258	10	0.10111	T	0.7	-9.317	14.6193	0.68572	0.0:0.145:0.8549:0.0	.	200	O14777	NDC80_HUMAN	K	200	ENSP00000261597:E200K	ENSP00000261597:E200K	E	+	1	0	NDC80	2575130	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.294000	0.51787	1.283000	0.44513	0.650000	0.86243	GAA	NDC80	-	pfam_Kinetochore_Ndc80		0.338	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	G	NM_006101		2585130	+1	no_errors	ENST00000261597	ensembl	human	known	70_37	missense	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152422319	152422319	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:152422319C>G	ENST00000172853.10	-	87	13216	c.13069G>C	c.(13069-13071)Gac>Cac	p.D4357H	NEB_ENST00000427231.2_Missense_Mutation_p.D6058H|NEB_ENST00000409198.1_Missense_Mutation_p.D4357H|NEB_ENST00000397345.3_Missense_Mutation_p.D6058H|NEB_ENST00000604864.1_Missense_Mutation_p.D6058H|NEB_ENST00000603639.1_Missense_Mutation_p.D6058H			P20929	NEBU_HUMAN	nebulin	4357					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACTCCAGGTCAGCTCTGTAG	0.473																																																	0													40.0	40.0	40.0					2																	152422319		1862	4108	5970	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13069G>C	2.37:g.152422319C>G	ENSP00000172853:p.Asp4357His		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.D6058H	ENST00000172853.10	37	c.18172		2	.	.	.	.	.	.	.	.	.	.	C	32	5.156918	0.94686	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	6.16	6.16	0.99307	.	0.044315	0.85682	D	0.000000	T	0.79997	0.4543	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82082	-0.0633	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	4357;788	P20929;Q14215	NEBU_HUMAN;.	H	4357;6058;6058;406;788;4357	ENSP00000386259:D4357H;ENSP00000380505:D6058H;ENSP00000416578:D6058H;ENSP00000410961:D788H;ENSP00000172853:D4357H	ENSP00000172853:D4357H	D	-	1	0	NEB	152130565	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAC	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.473	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152422319	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	G
NEK4	6787	genome.wustl.edu	37	3	52775485	52775485	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:52775485C>T	ENST00000233027.5	-	13	2237	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N	NEK4_ENST00000383721.4_Missense_Mutation_p.D633N|NEK4_ENST00000535191.1_Missense_Mutation_p.D590N	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	679					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CTTAACTCATCCTCAGACAGA	0.358																																																	0													131.0	123.0	125.0					3																	52775485		2203	4300	6503	SO:0001583	missense	6787			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2035G>A	3.37:g.52775485C>T	ENSP00000233027:p.Asp679Asn		A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D679N	ENST00000233027.5	37	c.2035	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.584127	0.96578	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.80123	2.29;2.29;-1.34;1.59	5.76	5.76	0.90799	.	0.177575	0.39834	N	0.001242	D	0.89072	0.6611	M	0.74258	2.255	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.995	D;D;P	0.67548	0.952;0.937;0.884	D	0.89552	0.3800	10	0.87932	D	0	.	17.2383	0.87006	0.0:1.0:0.0:0.0	.	590;633;679	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	N	679;590;633;590	ENSP00000233027:D679N;ENSP00000437703:D590N;ENSP00000373227:D633N;ENSP00000419666:D590N	ENSP00000233027:D679N	D	-	1	0	NEK4	52750525	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.103000	0.71492	2.882000	0.98803	0.655000	0.94253	GAT	NEK4	-	NULL		0.358	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	C	NM_003157		52775485	-1	no_errors	ENST00000233027	ensembl	human	known	70_37	missense	SNP	1.000	T
NELL2	4753	genome.wustl.edu	37	12	45105117	45105117	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:45105117G>A	ENST00000429094.2	-	11	1651	c.1147C>T	c.(1147-1149)Cat>Tat	p.H383Y	NELL2_ENST00000549027.1_Missense_Mutation_p.H382Y|NELL2_ENST00000452445.2_Missense_Mutation_p.H383Y|NELL2_ENST00000395487.2_Missense_Mutation_p.H382Y|NELL2_ENST00000333837.4_Missense_Mutation_p.H406Y|NELL2_ENST00000437801.2_Missense_Mutation_p.H433Y|NELL2_ENST00000551601.1_Missense_Mutation_p.H382Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	383						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTTATCTGATGAGACTCTGGA	0.383																																																	0													129.0	116.0	120.0					12																	45105117		2203	4300	6503	SO:0001583	missense	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1147C>T	12.37:g.45105117G>A	ENSP00000390680:p.His383Tyr		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.H433Y	ENST00000429094.2	37	c.1297	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358266	0.41801	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	D;T;T;T;D;D;D	0.84660	-1.5;-1.48;-1.18;-1.48;-1.5;-1.88;-1.55	5.79	4.91	0.64330	.	0.405934	0.29529	N	0.011881	T	0.76463	0.3991	L	0.36672	1.1	0.25518	N	0.987392	B;B;B;B;B;B	0.31435	0.167;0.323;0.205;0.0;0.13;0.158	B;B;B;B;B;B	0.31245	0.091;0.105;0.126;0.001;0.033;0.105	T	0.60905	-0.7170	10	0.02654	T	1	-3.2349	15.1199	0.72434	0.0676:0.0:0.9324:0.0	.	406;433;382;383;383;382	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	Y	382;383;382;383;382;406;433;382	ENSP00000378866:H382Y;ENSP00000390680:H383Y;ENSP00000449332:H382Y;ENSP00000394612:H383Y;ENSP00000447927:H382Y;ENSP00000327988:H406Y;ENSP00000416341:H433Y	ENSP00000327988:H406Y	H	-	1	0	NELL2	43391384	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	4.716000	0.61916	1.457000	0.47850	-0.119000	0.15052	CAT	NELL2	-	NULL		0.383	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	G	NM_006159		45105117	-1	no_errors	ENST00000437801	ensembl	human	known	70_37	missense	SNP	1.000	A
NELL2	4753	genome.wustl.edu	37	12	45209912	45209912	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:45209912G>A	ENST00000429094.2	-	3	696	c.192C>T	c.(190-192)ccC>ccT	p.P64P	NELL2_ENST00000548826.1_Silent_p.P64P|NELL2_ENST00000549027.1_Silent_p.P63P|NELL2_ENST00000452445.2_Silent_p.P64P|NELL2_ENST00000395487.2_Silent_p.P63P|NELL2_ENST00000333837.4_Silent_p.P87P|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Silent_p.P114P|NELL2_ENST00000551601.1_Silent_p.P63P	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	64	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTATGCTTCTGGGAGTATCTA	0.303																																																	0													83.0	91.0	88.0					12																	45209912		2203	4300	6503	SO:0001819	synonymous_variant	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.192C>T	12.37:g.45209912G>A			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.P114	ENST00000429094.2	37	c.342	CCDS8746.1	12																																																																																			NELL2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.303	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	G	NM_006159		45209912	-1	no_errors	ENST00000437801	ensembl	human	known	70_37	silent	SNP	1.000	A
NEMF	9147	genome.wustl.edu	37	14	50255978	50255978	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:50255978C>G	ENST00000298310.5	-	28	3230	c.2781G>C	c.(2779-2781)caG>caC	p.Q927H	NEMF_ENST00000545773.1_Missense_Mutation_p.Q885H|NEMF_ENST00000546046.1_Missense_Mutation_p.Q906H|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.Q127H			O60524	NEMF_HUMAN	nuclear export mediator factor	927					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTCTAGGTTTCTGGGGCTGTT	0.413																																																	0													194.0	194.0	194.0					14																	50255978		2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2781G>C	14.37:g.50255978C>G	ENSP00000298310:p.Gln927His		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.Q927H	ENST00000298310.5	37	c.2781	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941817	0.73557	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.48836	0.82;0.81;0.8;0.81	5.65	4.76	0.60689	.	0.198023	0.34932	N	0.003570	T	0.64080	0.2566	L	0.59436	1.845	0.58432	D	0.999998	D;D;D;P;D	0.89917	0.995;1.0;1.0;0.855;0.999	D;D;D;B;D	0.73380	0.912;0.964;0.964;0.365;0.98	T	0.66304	-0.5957	10	0.56958	D	0.05	-11.0171	14.3842	0.66931	0.0:0.9291:0.0:0.0709	.	906;902;885;927;127	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	H	927;885;127;906;699;885	ENSP00000298310:Q927H;ENSP00000438309:Q885H;ENSP00000441016:Q906H;ENSP00000452540:Q885H	ENSP00000298310:Q927H	Q	-	3	2	NEMF	49325728	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.161000	0.50747	1.376000	0.46267	0.557000	0.71058	CAG	NEMF	-	NULL		0.413	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50255978	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	missense	SNP	1.000	G
NEMF	9147	genome.wustl.edu	37	14	50256237	50256237	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:50256237C>T	ENST00000298310.5	-	27	3123	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	NEMF_ENST00000545773.1_Missense_Mutation_p.E850K|NEMF_ENST00000546046.1_Missense_Mutation_p.E871K|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.E92K			O60524	NEMF_HUMAN	nuclear export mediator factor	892					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ATGATAAGTTCACGGTCTTCT	0.348																																																	0													146.0	138.0	141.0					14																	50256237		2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2674G>A	14.37:g.50256237C>T	ENSP00000298310:p.Glu892Lys		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.E892K	ENST00000298310.5	37	c.2674	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209750	0.39003	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.47177	0.88;0.89;0.85;0.89	5.47	3.58	0.41010	.	0.115261	0.56097	D	0.000024	T	0.41351	0.1155	L	0.42632	1.34	0.58432	D	0.999999	P;P;P;P;P	0.47910	0.675;0.675;0.726;0.572;0.902	B;B;B;B;B	0.43301	0.23;0.23;0.294;0.147;0.415	T	0.13202	-1.0518	10	0.14252	T	0.57	-7.8407	15.6917	0.77461	0.0:0.7404:0.2596:0.0	.	871;867;850;892;92	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	K	892;850;92;871;664;850	ENSP00000298310:E892K;ENSP00000438309:E850K;ENSP00000441016:E871K;ENSP00000452540:E850K	ENSP00000298310:E892K	E	-	1	0	NEMF	49325987	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	3.488000	0.53229	0.614000	0.30107	0.460000	0.39030	GAA	NEMF	-	NULL		0.348	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50256237	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	missense	SNP	1.000	T
NEMF	9147	genome.wustl.edu	37	14	50256283	50256283	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:50256283C>T	ENST00000298310.5	-	27	3077	c.2628G>A	c.(2626-2628)atG>atA	p.M876I	NEMF_ENST00000545773.1_Missense_Mutation_p.M834I|NEMF_ENST00000546046.1_Missense_Mutation_p.M855I|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.M76I			O60524	NEMF_HUMAN	nuclear export mediator factor	876					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TCATTTTTTTCATTTTACTCT	0.294																																																	0													76.0	74.0	75.0					14																	50256283		2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2628G>A	14.37:g.50256283C>T	ENSP00000298310:p.Met876Ile		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.M876I	ENST00000298310.5	37	c.2628	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495951	0.44352	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.42131	0.99;0.99;0.98;0.99	5.47	3.56	0.40772	.	0.103096	0.64402	D	0.000003	T	0.38506	0.1043	L	0.58428	1.81	0.41332	D	0.987246	B;B;B;B;B	0.09022	0.001;0.0;0.001;0.001;0.002	B;B;B;B;B	0.11329	0.002;0.002;0.002;0.001;0.006	T	0.26155	-1.0111	10	0.30078	T	0.28	-11.1875	13.3685	0.60698	0.1231:0.7577:0.1192:0.0	.	855;851;834;876;76	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	I	876;834;76;855;648;834	ENSP00000298310:M876I;ENSP00000438309:M834I;ENSP00000441016:M855I;ENSP00000452540:M834I	ENSP00000298310:M876I	M	-	3	0	NEMF	49326033	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.702000	0.47102	2.566000	0.86566	0.460000	0.39030	ATG	NEMF	-	NULL		0.294	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	C	NM_004713		50256283	-1	no_errors	ENST00000298310	ensembl	human	known	70_37	missense	SNP	1.000	T
NEUROD4	58158	genome.wustl.edu	37	12	55420392	55420392	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:55420392G>C	ENST00000242994.3	+	2	547	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	57	Asp/Glu-rich (acidic).				amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TATTgaggaagaagaagaaga	0.483																																																	0													54.0	49.0	51.0					12																	55420392		2203	4300	6503	SO:0001583	missense	58158			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.169G>C	12.37:g.55420392G>C	ENSP00000242994:p.Glu57Gln		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom	p.E57Q	ENST00000242994.3	37	c.169	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082680	0.36758	.	.	ENSG00000123307	ENST00000242994	D	0.96168	-3.93	5.37	4.42	0.53409	.	0.297578	0.35739	N	0.003004	D	0.93657	0.7974	M	0.72118	2.19	0.43527	D	0.995804	B	0.26876	0.162	B	0.21360	0.034	D	0.91596	0.5291	10	0.38643	T	0.18	-10.6967	13.6002	0.62015	0.0:0.1568:0.8432:0.0	.	57	Q9HD90	NDF4_HUMAN	Q	57	ENSP00000242994:E57Q	ENSP00000242994:E57Q	E	+	1	0	NEUROD4	53706659	1.000000	0.71417	0.960000	0.40013	0.758000	0.43043	7.378000	0.79679	2.683000	0.91414	0.655000	0.94253	GAA	NEUROD4	-	pirsf_TF_bHLH_NeuroD		0.483	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	G			55420392	+1	no_errors	ENST00000242994	ensembl	human	known	70_37	missense	SNP	1.000	C
NFAT5	10725	genome.wustl.edu	37	16	69727884	69727884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:69727884C>T	ENST00000354436.2	+	12	4420	c.4102C>T	c.(4102-4104)Caa>Taa	p.Q1368*	NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q1292*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q1292*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q1386*|NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q1292*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q1385*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1368					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACCTAGTTCTCAAGAGCAGCA	0.473																																																	0													140.0	113.0	122.0					16																	69727884		2198	4300	6498	SO:0001587	stop_gained	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4102C>T	16.37:g.69727884C>T	ENSP00000346420:p.Gln1368*		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.Q1386*	ENST00000354436.2	37	c.4156	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	C	42	9.384360	0.99155	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	5.69	5.69	0.88448	.	0.152298	0.44097	D	0.000481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-1.9232	19.8016	0.96509	0.0:1.0:0.0:0.0	.	.	.	.	X	1386;1385;1292;1368;1292	.	ENSP00000338806:Q1292X	Q	+	1	0	NFAT5	68285385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.290000	0.51755	2.677000	0.91161	0.655000	0.94253	CAA	NFAT5	-	NULL		0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	C	NM_138714		69727884	+1	no_errors	ENST00000432919	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NFAT5	10725	genome.wustl.edu	37	16	69727915	69727915	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:69727915C>T	ENST00000354436.2	+	12	4451	c.4133C>T	c.(4132-4134)cCa>cTa	p.P1378L	NFAT5_ENST00000566899.1_Missense_Mutation_p.P1302L|NFAT5_ENST00000393742.2_Missense_Mutation_p.P1302L|NFAT5_ENST00000432919.1_Missense_Mutation_p.P1396L|NFAT5_ENST00000349945.1_Missense_Mutation_p.P1302L|NFAT5_ENST00000567239.1_Missense_Mutation_p.P1395L	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1378					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTTATCTCCAGCATCCATG	0.458																																																	0													140.0	115.0	124.0					16																	69727915		2198	4300	6498	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4133C>T	16.37:g.69727915C>T	ENSP00000346420:p.Pro1378Leu		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P1396L	ENST00000354436.2	37	c.4187	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493656	0.44352	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.69	5.69	0.88448	.	0.175287	0.51477	D	0.000090	T	0.38506	0.1043	L	0.38175	1.15	0.58432	D	0.999999	P;P;P	0.41313	0.546;0.745;0.745	B;B;B	0.37346	0.101;0.247;0.247	T	0.34329	-0.9833	10	0.72032	D	0.01	-3.6543	19.8016	0.96509	0.0:1.0:0.0:0.0	.	1395;1378;1396	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	L	1396;1395;1302;1378;1302	ENSP00000396538:P1396L;ENSP00000338806:P1302L;ENSP00000346420:P1378L;ENSP00000377343:P1302L	ENSP00000338806:P1302L	P	+	2	0	NFAT5	68285416	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.115000	0.57865	2.677000	0.91161	0.655000	0.94253	CCA	NFAT5	-	NULL		0.458	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	C	NM_138714		69727915	+1	no_errors	ENST00000432919	ensembl	human	known	70_37	missense	SNP	1.000	T
NFE2L2	4780	genome.wustl.edu	37	2	178098808	178098808	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:178098808C>A	ENST00000397062.3	-	2	791	c.237G>T	c.(235-237)gaG>gaT	p.E79D	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63D|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63D|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63D|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79_T80insE(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ATTCACCTGTCTCTTCATCTA	0.438			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	1	Insertion - In frame(1)	oesophagus(1)											146.0	144.0	145.0					2																	178098808		1902	4109	6011	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.237G>T	2.37:g.178098808C>A	ENSP00000380252:p.Glu79Asp		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E79D	ENST00000397062.3	37	c.237	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448379	0.43429	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.78	0.211	0.15236	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	M	0.87180	2.865	0.48901	D	0.999724	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	D;D;D;D	0.83275	0.991;0.978;0.996;0.991	T	0.62215	-0.6901	10	0.72032	D	0.01	.	12.0286	0.53386	0.0:0.6053:0.0:0.3947	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	D	63;79;63;63;63;63;63	ENSP00000380253:E63D;ENSP00000380252:E79D;ENSP00000411575:E63D;ENSP00000391590:E63D;ENSP00000400073:E63D;ENSP00000412191:E63D;ENSP00000410015:E63D	ENSP00000380252:E79D	E	-	3	2	NFE2L2	177807054	0.908000	0.30866	0.998000	0.56505	0.997000	0.91878	-0.008000	0.12788	0.086000	0.17137	0.563000	0.77884	GAG	NFE2L2	-	NULL		0.438	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098808	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	0.987	A
NGRN	51335	genome.wustl.edu	37	15	90814635	90814635	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:90814635C>T	ENST00000379095.3	+	3	499	c.491C>T	c.(490-492)cCt>cTt	p.P164L	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	164					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAGCTGCTCCCTGCAGGCCAC	0.517																																																	0													42.0	46.0	45.0					15																	90814635		2199	4298	6497	SO:0001583	missense	51335			AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.491C>T	15.37:g.90814635C>T	ENSP00000368389:p.Pro164Leu		B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP	pfam_Neugrin-related	p.P164L	ENST00000379095.3	37	c.491	CCDS32329.1	15	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340112	0.41398	.	.	ENSG00000182768	ENST00000379095	T	0.32988	1.43	4.17	1.04	0.20106	.	1.691440	0.03527	U	0.221956	T	0.24314	0.0589	L	0.38175	1.15	0.34059	D	0.657027	B	0.30563	0.285	B	0.28916	0.096	T	0.28839	-1.0031	10	0.17832	T	0.49	.	7.2838	0.26326	0.0:0.5565:0.3429:0.1005	.	164	Q9NPE2	NGRN_HUMAN	L	164	ENSP00000368389:P164L	ENSP00000368389:P164L	P	+	2	0	NGRN	88615639	0.695000	0.27747	0.905000	0.35620	0.277000	0.26821	1.425000	0.34859	0.450000	0.26774	0.557000	0.71058	CCT	NGRN	-	pfam_Neugrin-related		0.517	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NGRN	HGNC	protein_coding	OTTHUMT00000313418.1	C			90814635	+1	no_errors	ENST00000379095	ensembl	human	known	70_37	missense	SNP	0.576	T
NGRN	51335	genome.wustl.edu	37	15	90814647	90814647	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:90814647C>T	ENST00000379095.3	+	3	511	c.503C>T	c.(502-504)tCt>tTt	p.S168F	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	168					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V97fs*20(1)|p.V169fs*20(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GCAGGCCACTCTGTATCAGGC	0.512																																																	2	Deletion - Frameshift(2)	large_intestine(2)											45.0	49.0	47.0					15																	90814647		2199	4298	6497	SO:0001583	missense	51335			AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.503C>T	15.37:g.90814647C>T	ENSP00000368389:p.Ser168Phe		B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP	pfam_Neugrin-related	p.S168F	ENST00000379095.3	37	c.503	CCDS32329.1	15	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440085	0.43326	.	.	ENSG00000182768	ENST00000379095	T	0.35421	1.31	3.96	2.02	0.26589	.	0.818235	0.10572	U	0.659001	T	0.44664	0.1304	M	0.66939	2.045	0.09310	N	1	D	0.54397	0.966	P	0.55161	0.77	T	0.36261	-0.9755	10	0.72032	D	0.01	.	2.2451	0.04029	0.2044:0.4876:0.1977:0.1103	.	168	Q9NPE2	NGRN_HUMAN	F	168	ENSP00000368389:S168F	ENSP00000368389:S168F	S	+	2	0	NGRN	88615651	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.894000	0.28350	0.992000	0.38840	-0.310000	0.09108	TCT	NGRN	-	pfam_Neugrin-related		0.512	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NGRN	HGNC	protein_coding	OTTHUMT00000313418.1	C			90814647	+1	no_errors	ENST00000379095	ensembl	human	known	70_37	missense	SNP	0.000	T
NHS	4810	genome.wustl.edu	37	X	17744255	17744255	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:17744255G>A	ENST00000380060.3	+	6	2304	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	NHS_ENST00000398097.3_Missense_Mutation_p.E500K	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	677					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)					TCATGCCAATGAGGATGCCAG	0.517																																																	0													152.0	138.0	143.0					X																	17744255		2203	4300	6503	SO:0001583	missense	4810				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.1966G>A	X.37:g.17744255G>A	ENSP00000369400:p.Glu656Lys		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.E656K	ENST00000380060.3	37	c.1966	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	15.32	2.800047	0.50208	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.52295	0.67;0.68	6.03	6.03	0.97812	.	0.136701	0.64402	D	0.000003	T	0.54565	0.1866	M	0.68952	2.095	0.80722	D	1	P;P;P;P	0.48503	0.801;0.801;0.592;0.911	B;B;B;B	0.43867	0.434;0.434;0.254;0.355	T	0.60167	-0.7316	10	0.72032	D	0.01	-12.2062	19.4775	0.94995	0.0:0.0:1.0:0.0	.	677;498;500;656	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	K	656;500;498	ENSP00000369400:E656K;ENSP00000381170:E500K	ENSP00000369397:E498K	E	+	1	0	NHS	17654176	1.000000	0.71417	0.996000	0.52242	0.574000	0.36063	9.476000	0.97823	2.554000	0.86153	0.600000	0.82982	GAG	NHS	-	NULL		0.517	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	G	NM_198270		17744255	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	1.000	A
NIPBL	25836	genome.wustl.edu	37	5	36985280	36985280	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:36985280C>T	ENST00000282516.8	+	10	2497	c.1998C>T	c.(1996-1998)agC>agT	p.S666S	NIPBL_ENST00000448238.2_Silent_p.S666S|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	666					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAAACGAGAGCACCATAGTTG	0.343																																																	0													96.0	95.0	95.0					5																	36985280		2203	4300	6503	SO:0001819	synonymous_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1998C>T	5.37:g.36985280C>T			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	superfamily_ARM-type_fold	p.S666	ENST00000282516.8	37	c.1998	CCDS3920.1	5																																																																																			NIPBL	-	NULL		0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	C	NM_015384		36985280	+1	no_errors	ENST00000282516	ensembl	human	known	70_37	silent	SNP	0.657	T
NIM1K	167359	genome.wustl.edu	37	5	43277278	43277278	+	Missense_Mutation	SNP	G	G	A	rs534141752		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:43277278G>A	ENST00000512796.1	+	3	1911	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	NIM1_ENST00000326035.2_Missense_Mutation_p.E138K			Q8IY84	NIM1_HUMAN		138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E138K(1)									CCGCCTTTACGAAGTGGTGGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20242	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	breast(1)											101.0	97.0	98.0					5																	43277278		2203	4300	6503	SO:0001583	missense	167359																														ENST00000512796.1:c.412G>A	5.37:g.43277278G>A	ENSP00000420849:p.Glu138Lys		B3KVM1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E138K	ENST00000512796.1	37	c.412	CCDS3943.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.516068	0.96402	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.26223	1.75;1.75	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54344	-0.8308	10	0.72032	D	0.01	.	19.6629	0.95879	0.0:0.0:1.0:0.0	.	138	Q8IY84	NIM1_HUMAN	K	138	ENSP00000313572:E138K;ENSP00000420849:E138K	ENSP00000313572:E138K	E	+	1	0	AC114947.1	43313035	1.000000	0.71417	0.813000	0.32504	0.775000	0.43874	9.827000	0.99397	2.654000	0.90174	0.555000	0.69702	GAA	NIM1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.522	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NIM1	Uniprot_genename	protein_coding	OTTHUMT00000368017.1	G			43277278	+1	no_errors	ENST00000326035	ensembl	human	known	70_37	missense	SNP	1.000	A
NKPD1	284353	genome.wustl.edu	37	19	45657004	45657004	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:45657004C>T	ENST00000438936.2	-	3	236	c.25G>A	c.(25-27)Gag>Aag	p.E9K	NKPD1_ENST00000317951.4_Missense_Mutation_p.E231K|NKPD1_ENST00000589776.1_Missense_Mutation_p.E9K|NKPD1_ENST00000429338.1_Missense_Mutation_p.E9K			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	9	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TCCTCGCTCTCGCGCTGCGCG	0.731																																																	0													5.0	6.0	5.0					19																	45657004		1908	3905	5813	SO:0001583	missense	284353			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.25G>A	19.37:g.45657004C>T	ENSP00000401739:p.Glu9Lys		B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	pfam_KAP_NTPase	p.E231K	ENST00000438936.2	37	c.691		19	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038057	0.54896	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.52057	0.72;0.68;0.71	5.09	5.09	0.68999	.	0.191572	0.43579	D	0.000543	T	0.41236	0.1150	L	0.53249	1.67	0.25774	N	0.984808	B	0.31209	0.313	B	0.17433	0.018	T	0.40098	-0.9581	10	0.42905	T	0.14	-36.454	13.9701	0.64235	0.0:1.0:0.0:0.0	.	9	Q17RQ9	NKPD1_HUMAN	K	231;9;9	ENSP00000321976:E231K;ENSP00000401739:E9K;ENSP00000404706:E9K	ENSP00000321976:E231K	E	-	1	0	NKPD1	50348844	0.912000	0.30974	0.709000	0.30452	0.381000	0.30169	4.500000	0.60387	2.359000	0.80004	0.491000	0.48974	GAG	NKPD1	-	pfam_KAP_NTPase		0.731	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	C	NM_198478		45657004	-1	no_errors	ENST00000317951	ensembl	human	known	70_37	missense	SNP	0.434	T
NLRP2	55655	genome.wustl.edu	37	19	55497541	55497541	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:55497541G>C	ENST00000543010.1	+	8	2367	c.2224G>C	c.(2224-2226)Gat>Cat	p.D742H	NLRP2_ENST00000391721.4_Missense_Mutation_p.D718H|NLRP2_ENST00000263437.6_Missense_Mutation_p.D739H|NLRP2_ENST00000537859.1_Missense_Mutation_p.D720H|NLRP2_ENST00000427260.2_Missense_Mutation_p.D719H|NLRP2_ENST00000339757.7_Missense_Mutation_p.D720H|NLRP2_ENST00000538819.1_Missense_Mutation_p.D718H|NLRP2_ENST00000448584.2_Missense_Mutation_p.D742H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	742					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTCCCCAGCTGATGCTCATCG	0.453																																																	0													101.0	82.0	88.0					19																	55497541		2203	4300	6503	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2224G>C	19.37:g.55497541G>C	ENSP00000445135:p.Asp742His		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D742H	ENST00000543010.1	37	c.2224	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771127	0.31320	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	2.65	1.36	0.22044	.	0.874893	0.09330	N	0.817082	T	0.48241	0.1489	M	0.63843	1.955	0.09310	N	1	B;P;B;P;B	0.39847	0.245;0.691;0.409;0.544;0.409	B;B;B;B;B	0.40038	0.127;0.317;0.202;0.317;0.168	T	0.40496	-0.9560	10	0.48119	T	0.1	.	5.362	0.16093	0.1888:0.0:0.8112:0.0	.	719;720;739;718;742	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	H	742;718;720;742;720;719;718;739	ENSP00000445135:D742H;ENSP00000375601:D718H;ENSP00000344074:D720H;ENSP00000409370:D742H;ENSP00000440601:D720H;ENSP00000402474:D719H;ENSP00000441133:D718H;ENSP00000263437:D739H	ENSP00000263437:D739H	D	+	1	0	NLRP2	60189353	0.003000	0.15002	0.000000	0.03702	0.173000	0.22820	0.642000	0.24735	0.541000	0.28827	0.650000	0.86243	GAT	NLRP2	-	NULL		0.453	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	G	NM_017852		55497541	+1	no_errors	ENST00000448584	ensembl	human	known	70_37	missense	SNP	0.000	C
NME8	51314	genome.wustl.edu	37	7	37923939	37923939	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:37923939C>A	ENST00000199447.4	+	13	1401	c.1029C>A	c.(1027-1029)ttC>ttA	p.F343L	NME8_ENST00000440017.1_Missense_Mutation_p.F343L|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	343	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ATGAAGACTTCAAAATACTGG	0.279																																																	0													81.0	79.0	79.0					7																	37923939		2203	4296	6499	SO:0001583	missense	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1029C>A	7.37:g.37923939C>A	ENSP00000199447:p.Phe343Leu		Q9NZH1	Nonsense_Mutation	SNP	NULL	p.S47*	ENST00000199447.4	37	c.140	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342452	0.24339	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.52983	0.64;0.64	3.85	-2.39	0.06602	.	0.000000	0.52532	D	0.000065	T	0.56426	0.1984	L	0.60012	1.86	0.33880	D	0.636079	D	0.89917	1.0	D	0.97110	1.0	T	0.61515	-0.7047	10	0.42905	T	0.14	-24.5013	9.4027	0.38442	0.0:0.5149:0.0:0.4851	.	343	Q8N427	TXND3_HUMAN	L	343	ENSP00000199447:F343L;ENSP00000397063:F343L	ENSP00000199447:F343L	F	+	3	2	TXNDC3	37890464	0.893000	0.30496	0.950000	0.38849	0.383000	0.30230	0.400000	0.20932	-0.494000	0.06669	-0.237000	0.12165	TTC	NME8	-	NULL		0.279	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	C	NM_016616		37923939	+1	no_errors	ENST00000426106	ensembl	human	known	70_37	nonsense	SNP	0.991	A
NME9	347736	genome.wustl.edu	37	3	138037001	138037001	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:138037001G>C	ENST00000333911.3	-	4	283	c.256C>G	c.(256-258)Ctg>Gtg	p.L86V	NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Missense_Mutation_p.L64V|NME9_ENST00000341790.5_Intron|NME9_ENST00000536478.1_Missense_Mutation_p.L64V|NME9_ENST00000383180.2_Missense_Mutation_p.L64V			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	86	Thioredoxin.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GCATAAAACAGAAAGGTTGGC	0.418																																																	0													134.0	119.0	124.0					3																	138037001		2203	4300	6503	SO:0001583	missense	347736			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.256C>G	3.37:g.138037001G>C	ENSP00000335444:p.Leu86Val		Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.L86V	ENST00000333911.3	37	c.256		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.62|18.62	3.662990|3.662990	0.67700|0.67700	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000536478;ENST00000333911;ENST00000475751|ENST00000474690	T;T;T;T;T|.	0.16196|.	4.0;4.0;4.0;2.36;2.36|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Thioredoxin domain (1);Thioredoxin-like fold (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.53850|0.53850	0.1822|0.1822	N|N	0.26092|0.26092	0.79|0.79	0.36398|0.36398	D|D	0.862931|0.862931	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.80764|.	0.964;0.994|.	T|T	0.58645|0.58645	-0.7600|-0.7600	10|5	0.66056|.	D|.	0.02|.	-11.74|-11.74	15.9633|15.9633	0.79948|0.79948	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	86;64|.	Q86XW9;Q86XW9-2|.	TXND6_HUMAN;.|.	V|C	64;64;64;86;86|55	ENSP00000372667:L64V;ENSP00000321929:L64V;ENSP00000440143:L64V;ENSP00000335444:L86V;ENSP00000419147:L86V|.	ENSP00000321929:L64V|.	L|S	-|-	1|2	2|0	TXNDC6|TXNDC6	139519691|139519691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	7.074000|7.074000	0.76791|0.76791	2.357000|2.357000	0.79964|0.79964	0.491000|0.491000	0.48974|0.48974	CTG|TCT	NME9	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.418	NME9-003	KNOWN	basic|appris_principal	protein_coding	NME9	HGNC	protein_coding	OTTHUMT00000357583.1	G	NM_178130		138037001	-1	no_errors	ENST00000333911	ensembl	human	known	70_37	missense	SNP	1.000	C
NOD2	64127	genome.wustl.edu	37	16	50733855	50733855	+	Missense_Mutation	SNP	C	C	G	rs144368009		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:50733855C>G	ENST00000300589.2	+	2	635	c.530C>G	c.(529-531)cCg>cGg	p.P177R	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	177	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATCTTCACACCGTCCCAGAGG	0.542																																																	0													67.0	56.0	60.0					16																	50733855		2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.530C>G	16.37:g.50733855C>G	ENSP00000300589:p.Pro177Arg		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.P177R	ENST00000300589.2	37	c.530	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311967	0.40895	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.17691	2.26	5.29	5.29	0.74685	DEATH-like (2);Caspase Recruitment (2);	0.632714	0.14057	N	0.344312	T	0.13586	0.0329	L	0.27053	0.805	0.23126	N	0.998253	P	0.37038	0.579	B	0.32583	0.148	T	0.15292	-1.0442	10	0.52906	T	0.07	.	14.4314	0.67254	0.0:1.0:0.0:0.0	.	177	Q9HC29	NOD2_HUMAN	R	150;177	ENSP00000300589:P177R	ENSP00000300589:P177R	P	+	2	0	NOD2	49291356	0.717000	0.27966	0.111000	0.21465	0.299000	0.27559	4.021000	0.57196	2.471000	0.83476	0.591000	0.81541	CCG	NOD2	-	pfam_CARD,superfamily_DEATH-like,pfscan_CARD		0.542	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	C	NM_022162		50733855	+1	no_errors	ENST00000300589	ensembl	human	known	70_37	missense	SNP	0.295	G
NODAL	4838	genome.wustl.edu	37	10	72195205	72195205	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:72195205C>G	ENST00000287139.3	-	2	727	c.728G>C	c.(727-729)aGa>aCa	p.R243T	AC022532.1_ENST00000420338.2_Missense_Mutation_p.S51C	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	243					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CAGTTGACTTCTGTCTGGCAA	0.592																																																	0													110.0	97.0	101.0					10																	72195205		2203	4300	6503	SO:0001583	missense	4838			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.728G>C	10.37:g.72195205C>G	ENSP00000287139:p.Arg243Thr		Q2M3A5|Q8N4V3	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.R243T	ENST00000287139.3	37	c.728	CCDS7304.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.86|13.86	2.363620|2.363620	0.41902|0.41902	.|.	.|.	ENSG00000156574|ENSG00000197604	ENST00000287139;ENST00000414871|ENST00000420338	T;T|.	0.69806|.	-0.43;-0.43|.	5.58|5.58	3.61|3.61	0.41365|0.41365	Transforming growth factor-beta, C-terminal (1);|.	0.468202|.	0.25961|.	N|.	0.027186|.	T|T	0.46190|0.46190	0.1380|0.1380	L|L	0.32530|0.32530	0.975|0.975	0.35184|0.35184	D|D	0.772757|0.772757	B|.	0.24823|.	0.112|.	B|.	0.22386|.	0.039|.	T|T	0.59064|0.59064	-0.7524|-0.7524	10|6	0.20046|0.87932	T|D	0.44|0	.|.	5.9557|5.9557	0.19271|0.19271	0.1382:0.6496:0.1345:0.0778|0.1382:0.6496:0.1345:0.0778	.|.	243|.	Q96S42|.	NODAL_HUMAN|.	T|C	243;188|51	ENSP00000287139:R243T;ENSP00000394468:R188T|.	ENSP00000287139:R243T|ENSP00000411125:S51C	R|S	-|+	2|2	0|0	NODAL|AC022532.1	71865211|71865211	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	0.176000|0.176000	0.16782|0.16782	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	AGA|TCT	NODAL	-	NULL		0.592	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NODAL	HGNC	protein_coding	OTTHUMT00000048511.1	C	NM_018055		72195205	-1	no_errors	ENST00000287139	ensembl	human	known	70_37	missense	SNP	0.995	G
NOL12	79159	genome.wustl.edu	37	22	38087189	38087189	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:38087189C>T	ENST00000359114.4	+	6	558	c.488C>T	c.(487-489)tCc>tTc	p.S163F	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	163						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					AGGATCTCCTCCCTCACAGCA	0.572																																																	0													110.0	89.0	96.0					22																	38087189		2203	4300	6503	SO:0001583	missense	79159			Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.488C>T	22.37:g.38087189C>T	ENSP00000352021:p.Ser163Phe			Missense_Mutation	SNP	pfam_Nucleolar_protein_12	p.S163F	ENST00000359114.4	37	c.488	CCDS13955.1	22	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273480	0.40194	.	.	ENSG00000256872	ENST00000359114	D	0.84370	-1.84	6.11	3.99	0.46301	.	0.444700	0.28296	N	0.015861	D	0.84229	0.5426	L	0.61218	1.895	0.31807	N	0.627594	P	0.35033	0.481	B	0.39617	0.305	D	0.85718	0.1323	10	0.72032	D	0.01	-0.2251	11.8391	0.52344	0.1385:0.7287:0.1328:0.0	.	163	Q9UGY1	NOL12_HUMAN	F	163	ENSP00000352021:S163F	ENSP00000352021:S163F	S	+	2	0	Z83844.2	36417135	0.007000	0.16637	0.641000	0.29422	0.013000	0.08279	0.876000	0.28092	0.896000	0.36366	-0.122000	0.15005	TCC	NOL12	-	NULL		0.572	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL12	HGNC	protein_coding	OTTHUMT00000319476.1	C	NM_024313		38087189	+1	no_errors	ENST00000359114	ensembl	human	known	70_37	missense	SNP	0.856	T
NOL8	55035	genome.wustl.edu	37	9	95073484	95073484	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:95073484C>G	ENST00000545558.1	-	8	2908	c.2416G>C	c.(2416-2418)Gaa>Caa	p.E806Q	NOL8_ENST00000358855.4_Missense_Mutation_p.E738Q|NOL8_ENST00000535387.1_Intron|NOL8_ENST00000442668.2_Missense_Mutation_p.E806Q|NOL8_ENST00000542053.1_Missense_Mutation_p.E738Q					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCCTCTGTTTCACATTCACTG	0.463																																																	0													114.0	103.0	107.0					9																	95073484		1995	4173	6168	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000545558.1:c.2416G>C	9.37:g.95073484C>G	ENSP00000441140:p.Glu806Gln			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E806Q	ENST00000545558.1	37	c.2416	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355456	0.82243	.	.	ENSG00000198000	ENST00000442668;ENST00000358855;ENST00000545558;ENST00000542053;ENST00000432670	T;T;T;T;T	0.51574	1.98;1.98;1.98;1.98;0.7	5.15	5.15	0.70609	.	0.152989	0.56097	D	0.000025	T	0.67487	0.2898	M	0.77103	2.36	0.39518	D	0.96846	D;D	0.69078	0.997;0.994	P;P	0.61658	0.892;0.844	T	0.73886	-0.3841	10	0.72032	D	0.01	-20.2998	16.8732	0.86044	0.0:1.0:0.0:0.0	.	738;806	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	Q	806;738;806;738;806	ENSP00000401177:E806Q;ENSP00000351723:E738Q;ENSP00000441140:E806Q;ENSP00000440709:E738Q;ENSP00000414112:E806Q	ENSP00000351723:E738Q	E	-	1	0	NOL8	94113305	0.983000	0.35010	1.000000	0.80357	0.857000	0.48899	3.312000	0.51927	2.393000	0.81446	0.644000	0.83932	GAA	NOL8	-	NULL		0.463	NOL8-015	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000402684.1	C	NM_017948		95073484	-1	no_errors	ENST00000442668	ensembl	human	known	70_37	missense	SNP	0.999	G
NOL8	55035	genome.wustl.edu	37	9	95077640	95077640	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:95077640G>A	ENST00000535387.1	-	6	1266	c.1267C>T	c.(1267-1269)Cac>Tac	p.H423Y	NOL8_ENST00000545558.1_Missense_Mutation_p.H423Y|NOL8_ENST00000358855.4_Missense_Mutation_p.H355Y|NOL8_ENST00000442668.2_Missense_Mutation_p.H423Y|NOL8_ENST00000542053.1_Missense_Mutation_p.H355Y					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTAATACAGTGATCAGAAAGC	0.343																																																	0													28.0	25.0	26.0					9																	95077640		1820	4064	5884	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1267C>T	9.37:g.95077640G>A	ENSP00000441300:p.His423Tyr			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H423Y	ENST00000535387.1	37	c.1267	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	0	-2.651872	0.00109	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.17854	2.51;2.52;2.51;2.73;2.52;2.25	5.69	1.74	0.24563	.	1.524610	0.03303	N	0.189247	T	0.09992	0.0245	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29671	-1.0004	10	0.02654	T	1	0.1079	12.9916	0.58622	0.0661:0.5248:0.4091:0.0	.	423	Q76FK4	NOL8_HUMAN	Y	423;425;355;423;423;355;423	ENSP00000401177:H423Y;ENSP00000351723:H355Y;ENSP00000441140:H423Y;ENSP00000441300:H423Y;ENSP00000440709:H355Y;ENSP00000414112:H423Y	ENSP00000351723:H355Y	H	-	1	0	NOL8	94117461	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.106000	0.10890	0.049000	0.15920	-0.137000	0.14449	CAC	NOL8	-	NULL		0.343	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	G	NM_017948		95077640	-1	no_errors	ENST00000442668	ensembl	human	known	70_37	missense	SNP	0.000	A
NOL8	55035	genome.wustl.edu	37	9	95077645	95077645	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:95077645G>A	ENST00000535387.1	-	6	1261	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F	NOL8_ENST00000545558.1_Missense_Mutation_p.S421F|NOL8_ENST00000358855.4_Missense_Mutation_p.S353F|NOL8_ENST00000442668.2_Missense_Mutation_p.S421F|NOL8_ENST00000542053.1_Missense_Mutation_p.S353F					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ACAGTGATCAGAAAGCTCACA	0.328																																																	0													27.0	24.0	25.0					9																	95077645		1814	4061	5875	SO:0001583	missense	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1262C>T	9.37:g.95077645G>A	ENSP00000441300:p.Ser421Phe			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S421F	ENST00000535387.1	37	c.1262	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	8.559	0.877254	0.17395	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.20069	2.36;2.37;2.36;2.58;2.37;2.1	5.69	3.85	0.44370	.	0.848458	0.10890	N	0.622850	T	0.11537	0.0281	N	0.08118	0	0.20926	N	0.999826	B	0.24533	0.105	B	0.22880	0.042	T	0.26155	-1.0111	10	0.87932	D	0	-8.5155	7.1067	0.25368	0.1398:0.0:0.72:0.1401	.	421	Q76FK4	NOL8_HUMAN	F	421;423;353;421;421;353;421	ENSP00000401177:S421F;ENSP00000351723:S353F;ENSP00000441140:S421F;ENSP00000441300:S421F;ENSP00000440709:S353F;ENSP00000414112:S421F	ENSP00000351723:S353F	S	-	2	0	NOL8	94117466	0.023000	0.18921	0.106000	0.21319	0.161000	0.22273	1.075000	0.30716	0.740000	0.32651	0.655000	0.94253	TCT	NOL8	-	NULL		0.328	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	G	NM_017948		95077645	-1	no_errors	ENST00000442668	ensembl	human	known	70_37	missense	SNP	0.439	A
NOVA1	4857	genome.wustl.edu	37	14	26918136	26918136	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:26918136G>C	ENST00000539517.2	-	5	870	c.553C>G	c.(553-555)Ctg>Gtg	p.L185V	NOVA1_ENST00000267422.7_Missense_Mutation_p.L63V|NOVA1_ENST00000465357.2_Missense_Mutation_p.L161V	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	188	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CCTATTATCAGACCTGCTGTG	0.398																																																	0													100.0	101.0	101.0					14																	26918136		2203	4300	6503	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.553C>G	14.37:g.26918136G>C	ENSP00000438875:p.Leu185Val		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.L185V	ENST00000539517.2	37	c.553	CCDS32061.1	14	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583387	0.65992	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.67	5.67	0.87782	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.56097	D	0.000022	T	0.50292	0.1607	L	0.56280	1.765	0.80722	D	1	P;D;D	0.57257	0.935;0.979;0.974	P;D;D	0.71414	0.78;0.973;0.953	T	0.21484	-1.0244	10	0.14656	T	0.56	-3.2318	19.7504	0.96265	0.0:0.0:1.0:0.0	.	188;161;185	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	V	161;185;63;144;39;63;148	ENSP00000447391:L161V;ENSP00000438875:L185V;ENSP00000267422:L63V;ENSP00000408914:L144V;ENSP00000299472:L39V;ENSP00000449113:L63V;ENSP00000449185:L148V	ENSP00000267422:L63V	L	-	1	2	NOVA1	25987976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.687000	0.74552	2.673000	0.90976	0.563000	0.77884	CTG	NOVA1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.398	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000073261.3	G	NM_006491		26918136	-1	no_errors	ENST00000539517	ensembl	human	known	70_37	missense	SNP	1.000	C
NPBWR2	2832	genome.wustl.edu	37	20	62737876	62737876	+	Silent	SNP	C	C	T	rs368729956		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:62737876C>T	ENST00000369768.1	-	1	648	c.309G>A	c.(307-309)gcG>gcA	p.A103A		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	103					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GCAGGTGCTCCGCGATGTTGA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		21381	0.001		0.0	False		,,,				2504	0.0																0								C		1,4403	2.1+/-5.4	0,1,2201	43.0	37.0	39.0		309	-7.8	0.0	20		39	0,8598		0,0,4299	no	coding-synonymous	NPBWR2	NM_005286.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		103/334	62737876	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	2832			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.309G>A	20.37:g.62737876C>T			Q6NWQ6|Q9H4K3	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.A103	ENST00000369768.1	37	c.309	CCDS13557.1	20																																																																																			NPBWR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_NPY_rcpt		0.607	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR2	HGNC	protein_coding	OTTHUMT00000080300.1	C	NM_005286		62737876	-1	no_errors	ENST00000369768	ensembl	human	known	70_37	silent	SNP	0.431	T
NPC1L1	29881	genome.wustl.edu	37	7	44555783	44555783	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:44555783G>A	ENST00000289547.4	-	18	3669	c.3614C>T	c.(3613-3615)tCt>tTt	p.S1205F	NPC1L1_ENST00000381160.3_Missense_Mutation_p.S1178F|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S1132F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1205					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAACTCCACAGACATGCCCAC	0.602																																																	0													43.0	33.0	37.0					7																	44555783		2203	4300	6503	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3614C>T	7.37:g.44555783G>A	ENSP00000289547:p.Ser1205Phe		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.S1205F	ENST00000289547.4	37	c.3614	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631386	0.87660	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.91180	-2.8;-2.8;-2.8	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.90870	3.155	0.58432	D	0.999993	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	D	0.96997	0.9726	10	0.87932	D	0	-23.1564	17.0574	0.86537	0.0:0.0:1.0:0.0	.	1132;1178;1205	B7ZLE6;Q17RV5;D3DVK9	.;.;.	F	1205;1178;1132	ENSP00000289547:S1205F;ENSP00000370552:S1178F;ENSP00000438033:S1132F	ENSP00000289547:S1205F	S	-	2	0	NPC1L1	44522308	1.000000	0.71417	0.987000	0.45799	0.963000	0.63663	8.967000	0.93402	2.624000	0.88883	0.563000	0.77884	TCT	NPC1L1	-	pfam_Patched		0.602	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	G	NM_013389		44555783	-1	no_errors	ENST00000289547	ensembl	human	known	70_37	missense	SNP	1.000	A
NPIPB7	440350	genome.wustl.edu	37	16	28468242	28468242	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:28468242G>A	ENST00000452313.1	-	7	856	c.748C>T	c.(748-750)Cca>Tca	p.P250S	RP11-57A19.5_ENST00000602838.1_lincRNA			O75200	NPIB7_HUMAN	nuclear pore complex interacting protein family, member B7	250	Pro-rich.					extracellular region (GO:0005576)											TGTTGAGTTGGAGGAGGTGGC	0.502																																																	0																																										SO:0001583	missense	440350			BC156858, AC002425		16p11.2	2013-06-11	2013-06-11	2013-06-11	ENSG00000233232	ENSG00000233232			33832	other	unknown			"""nuclear pore complex interacting protein-like 1"""	NPIPL1			Standard	NG_023370		Approved	LOC440350	uc010vcq.2	O75200	OTTHUMG00000156915	ENST00000452313.1:c.748C>T	16.37:g.28468242G>A	ENSP00000405348:p.Pro250Ser		E7ERT9	Missense_Mutation	SNP	pfam_NPIP	p.P250S	ENST00000452313.1	37	c.748		16	.	.	.	.	.	.	.	.	.	.	N	8.831	0.939935	0.18281	.	.	ENSG00000233232	ENST00000452313	T	0.62639	0.01	.	.	.	.	.	.	.	.	T	0.73179	0.3554	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60047	-0.7339	6	0.59425	D	0.04	.	.	.	.	.	250	E7ERT9	.	S	250	ENSP00000405348:P250S	ENSP00000405348:P250S	P	-	1	0	NPIPL1	28375743	0.063000	0.20901	0.062000	0.19696	0.062000	0.15995	0.064000	0.14437	0.064000	0.16427	0.064000	0.15345	CCA	NPIPL1	-	pfam_NPIP		0.502	NPIPB7-001	NOVEL	basic|appris_principal	protein_coding	NPIPL1	HGNC	protein_coding	OTTHUMT00000346596.1	G	NG_023370		28468242	-1	no_errors	ENST00000452313	ensembl	human	novel	70_37	missense	SNP	0.062	A
NR3C1	2908	genome.wustl.edu	37	5	142779923	142779923	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:142779923G>C	ENST00000343796.2	-	2	1475	c.482C>G	c.(481-483)tCt>tGt	p.S161C	NR3C1_ENST00000415690.2_Missense_Mutation_p.S161C|NR3C1_ENST00000394464.2_Missense_Mutation_p.S161C|NR3C1_ENST00000231509.3_Missense_Mutation_p.S161C|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.S161C|NR3C1_ENST00000503201.1_Missense_Mutation_p.S161C|NR3C1_ENST00000424646.2_Missense_Mutation_p.S161C|NR3C1_ENST00000394466.2_Missense_Mutation_p.S161C	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	161	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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 transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	AGATACATCAGAGTGAGTTTT	0.478																																																	0													74.0	75.0	74.0					5																	142779923		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.482C>G	5.37:g.142779923G>C	ENSP00000343205:p.Ser161Cys		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.S161C	ENST00000343796.2	37	c.482	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	G	7.808	0.715024	0.15306	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;D;T;T;T;T	0.81821	-1.48;-1.48;-1.43;-1.54;-1.48;-1.48;-1.48;-1.48	5.64	3.33	0.38152	.	0.797816	0.11521	N	0.555695	T	0.71693	0.3370	N	0.13327	0.33	0.80722	D	1	P;B;B	0.46512	0.879;0.001;0.001	P;B;B	0.50109	0.631;0.004;0.007	T	0.65413	-0.6174	10	0.31617	T	0.26	.	8.6015	0.33747	0.0918:0.3891:0.5191:0.0	.	161;161;161	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	C	161	ENSP00000377977:S161C;ENSP00000343205:S161C;ENSP00000387672:S161C;ENSP00000405282:S161C;ENSP00000422518:S161C;ENSP00000377979:S161C;ENSP00000231509:S161C;ENSP00000427672:S161C	ENSP00000231509:S161C	S	-	2	0	NR3C1	142760116	0.353000	0.24904	0.878000	0.34440	0.558000	0.35554	2.869000	0.48444	2.658000	0.90341	0.655000	0.94253	TCT	NR3C1	-	pfam_Glcrtcd_rcpt		0.478	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	G			142779923	-1	no_errors	ENST00000231509	ensembl	human	known	70_37	missense	SNP	0.819	C
NR3C1	2908	genome.wustl.edu	37	5	142780157	142780157	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:142780157G>A	ENST00000343796.2	-	2	1241	c.248C>T	c.(247-249)tCa>tTa	p.S83L	NR3C1_ENST00000415690.2_Missense_Mutation_p.S83L|NR3C1_ENST00000394464.2_Missense_Mutation_p.S83L|NR3C1_ENST00000231509.3_Missense_Mutation_p.S83L|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.S83L|NR3C1_ENST00000503201.1_Missense_Mutation_p.S83L|NR3C1_ENST00000424646.2_Missense_Mutation_p.S83L|NR3C1_ENST00000394466.2_Missense_Mutation_p.S83L	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	83	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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 transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	CATTGAGAGTGAAACTGCTTT	0.488																																																	0													134.0	148.0	143.0					5																	142780157		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.248C>T	5.37:g.142780157G>A	ENSP00000343205:p.Ser83Leu		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.S83L	ENST00000343796.2	37	c.248	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755740	0.69648	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.84	4.84	0.62591	.	0.150314	0.46442	D	0.000296	T	0.70780	0.3263	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.75668	-0.3238	10	0.87932	D	0	.	18.3334	0.90279	0.0:0.0:1.0:0.0	.	83;83;83	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	L	83	ENSP00000377977:S83L;ENSP00000343205:S83L;ENSP00000387672:S83L;ENSP00000405282:S83L;ENSP00000422518:S83L;ENSP00000377979:S83L;ENSP00000231509:S83L;ENSP00000427672:S83L;ENSP00000424747:S83L;ENSP00000425313:S83L;ENSP00000420856:S83L;ENSP00000426478:S83L;ENSP00000425374:S83L	ENSP00000231509:S83L	S	-	2	0	NR3C1	142760350	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.360000	0.66086	2.400000	0.81607	0.561000	0.74099	TCA	NR3C1	-	pfam_Glcrtcd_rcpt,prints_Glcrtcd_rcpt		0.488	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	G			142780157	-1	no_errors	ENST00000231509	ensembl	human	known	70_37	missense	SNP	1.000	A
NR5A2	2494	genome.wustl.edu	37	1	200012937	200012937	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:200012937G>A	ENST00000367362.3	+	3	484	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	NR5A2_ENST00000544748.1_Missense_Mutation_p.E8K|NR5A2_ENST00000236914.3_Missense_Mutation_p.E34K	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	80					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E80K(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTCCTATGATGAAGATCTGGA	0.388																																					Melanoma(179;1138 2773 15678 26136)												1	Substitution - Missense(1)	cervix(1)											112.0	106.0	108.0					1																	200012937		2203	4300	6503	SO:0001583	missense	2494			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.238G>A	1.37:g.200012937G>A	ENSP00000356331:p.Glu80Lys		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E80K	ENST00000367362.3	37	c.238	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623953	0.87560	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.94330	-3.39;-3.4;-3.4	5.91	5.91	0.95273	Zinc finger, NHR/GATA-type (1);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	L	0.27053	0.805	0.80722	D	1	B;B	0.27068	0.006;0.167	B;B	0.29598	0.019;0.104	D	0.85025	0.0914	9	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	34;80	F1D8R9;O00482	.;NR5A2_HUMAN	K	80;34;8	ENSP00000356331:E80K;ENSP00000236914:E34K;ENSP00000439116:E8K	.	E	+	1	0	NR5A2	198279560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.343000	0.97047	2.814000	0.96858	0.650000	0.86243	GAA	NR5A2	-	pirsf_Steroidogenic_factor_1		0.388	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	G			200012937	+1	no_errors	ENST00000367362	ensembl	human	known	70_37	missense	SNP	1.000	A
NRP1	8829	genome.wustl.edu	37	10	33483586	33483586	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:33483586C>G	ENST00000265371.4	-	14	2450				NRP1_ENST00000374867.2_Intron|NRP1_ENST00000395995.1_Intron|NRP1_ENST00000374875.1_Intron			O14786	NRP1_HUMAN	neuropilin 1						angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCTCTTTTATCTTCTTGTCTT	0.388																																					Melanoma(104;886 1489 44640 45944 51153)												0																																										SO:0001627	intron_variant	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1925-2240G>C	10.37:g.33483586C>G			B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	RNA	SNP	-	NULL	ENST00000265371.4	37	NULL	CCDS7177.1	10																																																																																			NRP1	-	-		0.388	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	C			33483586	-1	no_errors	ENST00000466932	ensembl	human	known	70_37	rna	SNP	0.000	G
NRSN2	80023	genome.wustl.edu	37	20	334278	334278	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:334278G>A	ENST00000382291.3	+	4	854	c.614G>A	c.(613-615)tGa>tAa	p.*205*	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Silent_p.*205*|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	0						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				AGGGACTCCTGAGCTGCCCAC	0.577																																																	0													62.0	56.0	58.0					20																	334278		2203	4300	6503	SO:0001819	synonymous_variant	80023			AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.614G>A	20.37:g.334278G>A			A8K3B2|Q6FII5|Q9NUD3	Silent	SNP	NULL	p.*205	ENST00000382291.3	37	c.614	CCDS12996.1	20																																																																																			NRSN2	-	NULL		0.577	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN2	HGNC	protein_coding	OTTHUMT00000077446.1	G	NM_024958		334278	+1	no_errors	ENST00000382285	ensembl	human	known	70_37	silent	SNP	0.891	A
NSUN2	54888	genome.wustl.edu	37	5	6632822	6632822	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:6632822G>A	ENST00000264670.6	-	2	455	c.144C>T	c.(142-144)ttC>ttT	p.F48F	NSUN2_ENST00000506139.1_Silent_p.F48F|SRD5A1_ENST00000538824.1_5'Flank|SRD5A1_ENST00000274192.5_5'Flank|SRD5A1_ENST00000537411.1_5'Flank|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	48					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AGTAGTGCTCGAACAGCTTGT	0.617																																																	0													69.0	71.0	70.0					5																	6632822		2203	4300	6503	SO:0001819	synonymous_variant	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.144C>T	5.37:g.6632822G>A			A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1	p.F48	ENST00000264670.6	37	c.144	CCDS3869.1	5																																																																																			NSUN2	-	NULL		0.617	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NSUN2	HGNC	protein_coding	OTTHUMT00000206902.1	G	NM_017755		6632822	-1	no_errors	ENST00000264670	ensembl	human	known	70_37	silent	SNP	0.999	A
NT5C	30833	genome.wustl.edu	37	17	73127279	73127279	+	Missense_Mutation	SNP	G	G	A	rs146917283		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:73127279G>A	ENST00000245552.2	-	2	359	c.272C>T	c.(271-273)cCg>cTg	p.P91L	NT5C_ENST00000578337.1_Missense_Mutation_p.P5L|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000582160.1_Missense_Mutation_p.P5L|NT5C_ENST00000582170.1_Missense_Mutation_p.P91L	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	91					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	TCCTTACTCCGGTAGGTCGTT	0.657																																																	0													33.0	41.0	38.0					17																	73127279		2201	4299	6500	SO:0001583	missense	30833			AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"""5' nucleotidase, deoxy (pyrimidine), cytosolic type C"", ""uridine 5-prime monophosphate hydrolase 2"""	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.272C>T	17.37:g.73127279G>A	ENSP00000245552:p.Pro91Leu		Q96HS6|Q9NP82	Missense_Mutation	SNP	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom	p.P91L	ENST00000245552.2	37	c.272	CCDS11715.1	17	.	.	.	.	.	.	.	.	.	.	G	8.112	0.778925	0.16120	.	.	ENSG00000125458	ENST00000245552	T	0.42900	0.96	4.36	-5.59	0.02505	HAD-like domain (2);	1.295740	0.05017	N	0.472100	T	0.26666	0.0652	L	0.27053	0.805	0.09310	N	0.999998	P	0.34724	0.465	B	0.24848	0.056	T	0.29610	-1.0006	10	0.59425	D	0.04	.	11.9379	0.52884	0.1091:0.0:0.7037:0.1872	.	91	Q8TCD5	NT5C_HUMAN	L	91	ENSP00000245552:P91L	ENSP00000245552:P91L	P	-	2	0	NT5C	70638874	0.000000	0.05858	0.024000	0.17045	0.126000	0.20510	0.196000	0.17176	-1.199000	0.02666	-0.397000	0.06425	CCG	NT5C	-	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom		0.657	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C	HGNC	protein_coding	OTTHUMT00000445853.1	G			73127279	-1	no_errors	ENST00000245552	ensembl	human	known	70_37	missense	SNP	0.089	A
NT5C1A	84618	genome.wustl.edu	37	1	40125018	40125018	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:40125018C>G	ENST00000235628.1	-	6	881	c.882G>C	c.(880-882)aaG>aaC	p.K294N		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	294					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCGCAGGGTCTTGAGAGCCC	0.597																																																	0													52.0	62.0	59.0					1																	40125018		2203	4300	6503	SO:0001583	missense	84618			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.882G>C	1.37:g.40125018C>G	ENSP00000235628:p.Lys294Asn		Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	pfam_5-nucleotidase	p.K294N	ENST00000235628.1	37	c.882	CCDS440.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276366	0.80580	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	L	0.54908	1.71	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.66492	-0.5910	9	0.36615	T	0.2	-8.6224	12.5831	0.56401	0.0:0.9238:0.0:0.0762	.	294	Q9BXI3	5NT1A_HUMAN	N	294	.	ENSP00000235628:K294N	K	-	3	2	NT5C1A	39897605	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.074000	0.57577	2.624000	0.88883	0.655000	0.94253	AAG	NT5C1A	-	pfam_5-nucleotidase		0.597	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C1A	HGNC	protein_coding	OTTHUMT00000025626.1	C	NM_032526		40125018	-1	no_errors	ENST00000235628	ensembl	human	known	70_37	missense	SNP	1.000	G
NTN4	59277	genome.wustl.edu	37	12	96131685	96131685	+	Missense_Mutation	SNP	G	G	A	rs193920922		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:96131685G>A	ENST00000343702.4	-	3	1271	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.H275Y|NTN4_ENST00000344911.4_Missense_Mutation_p.H238Y|NTN4_ENST00000538383.1_Missense_Mutation_p.H238Y	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	275	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTGAAGCCATGAACAGGTATG	0.453																																																	0													115.0	100.0	105.0					12																	96131685		2203	4300	6503	SO:0001583	missense	59277			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.823C>T	12.37:g.96131685G>A	ENSP00000340998:p.His275Tyr		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.H275Y	ENST00000343702.4	37	c.823	CCDS9054.1	12	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593893	0.28445	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.36878	1.26;1.23;1.23;1.29	5.4	3.56	0.40772	EGF-like, laminin (3);	0.737320	0.13728	N	0.366869	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B;B	0.24882	0.005;0.113	B;B	0.22753	0.002;0.041	T	0.13282	-1.0515	10	0.66056	D	0.02	.	6.411	0.21690	0.0:0.5259:0.3152:0.1589	.	275;275	Q9HB63-2;Q9HB63	.;NET4_HUMAN	Y	275;238;238;275	ENSP00000340998:H275Y;ENSP00000339436:H238Y;ENSP00000444432:H238Y;ENSP00000447292:H275Y	ENSP00000340998:H275Y	H	-	1	0	NTN4	94655816	0.000000	0.05858	0.999000	0.59377	0.845000	0.48019	-0.117000	0.10708	1.258000	0.44101	-0.321000	0.08615	CAT	NTN4	-	pfam_EGF_laminin,smart_EGF_laminin		0.453	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1	G	NM_021229		96131685	-1	no_errors	ENST00000343702	ensembl	human	known	70_37	missense	SNP	0.004	A
NTN4	59277	genome.wustl.edu	37	12	96131749	96131749	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:96131749G>A	ENST00000343702.4	-	3	1207	c.759C>T	c.(757-759)atC>atT	p.I253I	NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Silent_p.I253I|NTN4_ENST00000344911.4_Silent_p.I216I|NTN4_ENST00000538383.1_Silent_p.I216I	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	253	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TGAAATCATAGATTGCATAGT	0.488																																																	0													159.0	123.0	136.0					12																	96131749		2203	4300	6503	SO:0001819	synonymous_variant	59277			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.759C>T	12.37:g.96131749G>A			B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.I253	ENST00000343702.4	37	c.759	CCDS9054.1	12																																																																																			NTN4	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.488	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1	G	NM_021229		96131749	-1	no_errors	ENST00000343702	ensembl	human	known	70_37	silent	SNP	1.000	A
NUP155	9631	genome.wustl.edu	37	5	37302895	37302895	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:37302895C>G	ENST00000231498.3	-	29	3636	c.3433G>C	c.(3433-3435)Gaa>Caa	p.E1145Q	NUP155_ENST00000513532.1_Missense_Mutation_p.E1081Q|NUP155_ENST00000381843.2_Missense_Mutation_p.E1086Q|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1145					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTTTTTCTTCTAATTCATGA	0.403																																																	0													136.0	141.0	139.0					5																	37302895		2203	4300	6503	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3433G>C	5.37:g.37302895C>G	ENSP00000231498:p.Glu1145Gln		Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.E1145Q	ENST00000231498.3	37	c.3433	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.112355	0.94339	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.80214	-1.35;-1.33;-1.31	5.62	5.62	0.85841	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.971	D	0.86476	0.1788	10	0.35671	T	0.21	.	19.6559	0.95842	0.0:1.0:0.0:0.0	.	1081;1145	E9PF10;O75694	.;NU155_HUMAN	Q	1145;1086;1107;1081	ENSP00000231498:E1145Q;ENSP00000371265:E1086Q;ENSP00000422019:E1081Q	ENSP00000231498:E1145Q	E	-	1	0	NUP155	37338652	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.487000	0.81328	2.652000	0.90054	0.591000	0.81541	GAA	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_C		0.403	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	C	NM_153485, NM_004298		37302895	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	missense	SNP	1.000	G
NUP160	23279	genome.wustl.edu	37	11	47819353	47819353	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:47819353G>C	ENST00000378460.2	-	27	3313	c.3267C>G	c.(3265-3267)atC>atG	p.I1089M	NUP160_ENST00000528071.1_Missense_Mutation_p.I975M|NUP160_ENST00000530326.1_Missense_Mutation_p.I975M	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1089					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGTGGCGATAGATGTGAAAGG	0.418																																																	0													155.0	134.0	141.0					11																	47819353		2201	4298	6499	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3267C>G	11.37:g.47819353G>C	ENSP00000367721:p.Ile1089Met		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.I1089M	ENST00000378460.2	37	c.3267	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301635	0.40694	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.55052	1.17;0.54;0.54	5.89	2.6	0.31112	.	0.229665	0.43579	D	0.000555	T	0.27866	0.0686	N	0.20574	0.59	0.80722	D	1	B	0.28971	0.229	B	0.24155	0.051	T	0.05852	-1.0860	10	0.28530	T	0.3	.	1.5003	0.02475	0.2911:0.1394:0.4279:0.1417	.	1089	Q12769	NU160_HUMAN	M	1089;975;975	ENSP00000367721:I1089M;ENSP00000433590:I975M;ENSP00000432367:I975M	ENSP00000367721:I1089M	I	-	3	3	NUP160	47775929	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	2.219000	0.42899	0.322000	0.23283	0.655000	0.94253	ATC	NUP160	-	NULL		0.418	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	G	NM_015231		47819353	-1	no_errors	ENST00000378460	ensembl	human	known	70_37	missense	SNP	1.000	C
NUP210L	91181	genome.wustl.edu	37	1	154076644	154076644	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:154076644G>A	ENST00000368559.3	-	13	1734	c.1663C>T	c.(1663-1665)Cat>Tat	p.H555Y	MIR5698_ENST00000577643.1_RNA|NUP210L_ENST00000271854.3_Missense_Mutation_p.H555Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	555					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACATCAGCATGAAATGGTAAC	0.368																																																	0													185.0	165.0	171.0					1																	154076644		1869	4109	5978	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1663C>T	1.37:g.154076644G>A	ENSP00000357547:p.His555Tyr		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.H555Y	ENST00000368559.3	37	c.1663	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368327	0.42003	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05513	3.43;3.43	4.83	4.83	0.62350	.	0.294893	0.29572	N	0.011765	T	0.02610	0.0079	L	0.36672	1.1	0.28115	N	0.930829	P;B	0.44521	0.837;0.167	B;B	0.35182	0.197;0.123	T	0.29243	-1.0018	10	0.56958	D	0.05	-24.5065	15.8712	0.79119	0.0:0.0:1.0:0.0	.	555;555	E7EP56;Q5VU65	.;P210L_HUMAN	Y	555	ENSP00000357547:H555Y;ENSP00000271854:H555Y	ENSP00000271854:H555Y	H	-	1	0	NUP210L	152343268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.249000	0.65427	2.508000	0.84585	0.650000	0.86243	CAT	NUP210L	-	NULL		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	G	NM_207308		154076644	-1	no_errors	ENST00000368559	ensembl	human	known	70_37	missense	SNP	1.000	A
NUP214	8021	genome.wustl.edu	37	9	134053762	134053762	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:134053762G>C	ENST00000359428.5	+	24	3528	c.3384G>C	c.(3382-3384)ttG>ttC	p.L1128F	NUP214_ENST00000411637.2_Missense_Mutation_p.L1118F|NUP214_ENST00000451030.1_Missense_Mutation_p.L1129F			P35658	NU214_HUMAN	nucleoporin 214kDa	1128	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGCAGGAATTGAAGAATAACC	0.448			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""						OREG0019558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													119.0	102.0	108.0					9																	134053762		2203	4300	6503	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3384G>C	9.37:g.134053762G>C	ENSP00000352400:p.Leu1128Phe	1607	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.L1129F	ENST00000359428.5	37	c.3387	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909420	0.72868	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.52526	0.66;0.66;0.67	5.92	5.92	0.95590	.	0.000000	0.35739	N	0.003017	T	0.45013	0.1321	N	0.08118	0	0.52099	D	0.999948	P;D;D;D	0.76494	0.947;0.999;0.997;0.997	P;D;D;D	0.68192	0.777;0.956;0.956;0.956	T	0.51568	-0.8689	10	0.72032	D	0.01	-16.1954	8.922	0.35617	0.0786:0.1616:0.7598:0.0	.	1117;722;1118;1128	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	F	1128;1118;1129;1117;722;557	ENSP00000352400:L1128F;ENSP00000396576:L1118F;ENSP00000405014:L1129F	ENSP00000352400:L1128F	L	+	3	2	NUP214	133043583	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	1.148000	0.31614	2.813000	0.96785	0.561000	0.74099	TTG	NUP214	-	NULL		0.448	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	G	NM_005085		134053762	+1	no_errors	ENST00000451030	ensembl	human	known	70_37	missense	SNP	1.000	C
NUP50	10762	genome.wustl.edu	37	22	45580467	45580467	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:45580467G>C	ENST00000347635.4	+	8	1804	c.1338G>C	c.(1336-1338)ttG>ttC	p.L446F	NUP50_ENST00000425733.2_Missense_Mutation_p.L196F|NUP50_ENST00000407019.2_Missense_Mutation_p.L418F|NUP50_ENST00000396096.2_Missense_Mutation_p.L418F	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	446	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCACCATGTTGATTCGGGTAA	0.453																																																	0													42.0	39.0	40.0					22																	45580467		2202	4281	6483	SO:0001583	missense	10762			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1338G>C	22.37:g.45580467G>C	ENSP00000345895:p.Leu446Phe		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.L446F	ENST00000347635.4	37	c.1338	CCDS14062.1	22	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092827	0.36952	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.61	-11.2	0.00127	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.64402	D	0.000001	T	0.63094	0.2482	M	0.92459	3.31	0.46298	D	0.998978	D	0.89917	1.0	D	0.97110	1.0	D	0.84491	0.0611	10	0.66056	D	0.02	-15.1632	15.4492	0.75259	0.1788:0.2355:0.5857:0.0	.	446	Q9UKX7	NUP50_HUMAN	F	446;418;196;418	ENSP00000345895:L446F;ENSP00000385555:L418F;ENSP00000406928:L196F;ENSP00000379403:L418F	ENSP00000345895:L446F	L	+	3	2	NUP50	43959131	0.007000	0.16637	0.005000	0.12908	0.088000	0.18126	-1.129000	0.03244	-2.033000	0.00925	-0.302000	0.09304	TTG	NUP50	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.453	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP50	HGNC	protein_coding	OTTHUMT00000321993.2	G			45580467	+1	no_errors	ENST00000347635	ensembl	human	known	70_37	missense	SNP	0.137	C
NUP50	10762	genome.wustl.edu	37	22	45580493	45580493	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:45580493C>T	ENST00000347635.4	+	8	1830	c.1364C>T	c.(1363-1365)gCa>gTa	p.A455V	NUP50_ENST00000425733.2_Missense_Mutation_p.A205V|NUP50_ENST00000407019.2_Missense_Mutation_p.A427V|NUP50_ENST00000396096.2_Missense_Mutation_p.A427V	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	455	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGCGAGGATGCAGACGAGTTG	0.468																																																	0													38.0	38.0	38.0					22																	45580493		2203	4297	6500	SO:0001583	missense	10762			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1364C>T	22.37:g.45580493C>T	ENSP00000345895:p.Ala455Val		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.A455V	ENST00000347635.4	37	c.1364	CCDS14062.1	22	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493252	0.84962	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.46	5.46	0.80206	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76841	-0.2810	10	0.37606	T	0.19	-27.8873	19.6891	0.95991	0.0:1.0:0.0:0.0	.	455	Q9UKX7	NUP50_HUMAN	V	455;427;205;427	ENSP00000345895:A455V;ENSP00000385555:A427V;ENSP00000406928:A205V;ENSP00000379403:A427V	ENSP00000345895:A455V	A	+	2	0	NUP50	43959157	1.000000	0.71417	0.233000	0.24025	0.393000	0.30537	7.552000	0.82192	2.706000	0.92434	0.655000	0.94253	GCA	NUP50	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.468	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP50	HGNC	protein_coding	OTTHUMT00000321993.2	C			45580493	+1	no_errors	ENST00000347635	ensembl	human	known	70_37	missense	SNP	1.000	T
NUP98	4928	genome.wustl.edu	37	11	3774579	3774579	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:3774579G>C	ENST00000324932.7	-	11	1654	c.1234C>G	c.(1234-1236)Ctt>Gtt	p.L412V	NUP98_ENST00000359171.4_Missense_Mutation_p.L412V|NUP98_ENST00000397007.4_Missense_Mutation_p.L429V|NUP98_ENST00000397004.4_Missense_Mutation_p.L412V|NUP98_ENST00000355260.3_Missense_Mutation_p.L412V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	429	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCAGTTCCAAGAGTCCCAGGT	0.413			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													89.0	85.0	86.0					11																	3774579		2201	4298	6499	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1234C>G	11.37:g.3774579G>C	ENSP00000316032:p.Leu412Val		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.L412V	ENST00000324932.7	37	c.1234	CCDS7746.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.76|17.76	3.469007|3.469007	0.63625|0.63625	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007|ENST00000527104	.|.	.|.	.|.	5.34|5.34	4.41|4.41	0.53225|0.53225	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.60676|0.60676	0.2287|0.2287	L|L	0.58810|0.58810	1.83|1.83	0.39497|0.39497	D|D	0.968134|0.968134	P;D;D;D|.	0.67145|.	0.94;0.958;0.99;0.996|.	P;P;P;P|.	0.62435|.	0.66;0.699;0.866;0.902|.	T|T	0.60490|0.60490	-0.7253|-0.7253	9|5	0.24483|.	T|.	0.36|.	.|.	8.591|8.591	0.33688|0.33688	0.0781:0.0:0.7717:0.1501|0.0781:0.0:0.7717:0.1501	.|.	429;412;412;412|.	P52948-3;P52948-4;P52948-2;P52948-5|.	.;.;.;.|.	V|C	412;412;412;412;429|31	.|.	ENSP00000316032:L412V|.	L|S	-|-	1|2	0|0	NUP98|NUP98	3731155|3731155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.602000|1.602000	0.36783|0.36783	1.215000|1.215000	0.43411|0.43411	0.655000|0.655000	0.94253|0.94253	CTT|TCT	NUP98	-	NULL		0.413	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	G	NM_016320		3774579	-1	no_errors	ENST00000324932	ensembl	human	known	70_37	missense	SNP	1.000	C
NUPL1	9818	genome.wustl.edu	37	13	25875932	25875932	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:25875932C>A	ENST00000381736.3	+	1	271	c.21C>A	c.(19-21)ttC>ttA	p.F7L	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Missense_Mutation_p.F7L|RP11-271M24.2_ENST00000568856.2_lincRNA|NUPL1_ENST00000381718.3_Missense_Mutation_p.F7L	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	7	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GGTTCTCCTTCGGGTCCGGGA	0.662																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0													34.0	34.0	34.0					13																	25875932		2202	4300	6502	SO:0001583	missense	9818			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.21C>A	13.37:g.25875932C>A	ENSP00000371155:p.Phe7Leu		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.F7L	ENST00000381736.3	37	c.21	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966780	0.34659	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747	T;T;T;T	0.65549	0.46;0.27;-0.16;0.21	4.4	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.68952	2.095	0.51767	D	0.999934	D;D;D	0.58268	0.982;0.982;0.982	D;D;D	0.67725	0.953;0.953;0.953	T	0.73388	-0.3998	10	0.87932	D	0	-7.6252	8.999	0.36069	0.0:0.8024:0.0:0.1976	.	7;7;7	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	L	7	ENSP00000371155:F7L;ENSP00000418555:F7L;ENSP00000371137:F7L;ENSP00000371166:F7L	ENSP00000318459:F7L	F	+	3	2	NUPL1	24773932	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	0.633000	0.24598	0.926000	0.37118	0.591000	0.81541	TTC	NUPL1	-	NULL		0.662	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	C			25875932	+1	no_errors	ENST00000381736	ensembl	human	known	70_37	missense	SNP	1.000	A
NWD1	284434	genome.wustl.edu	37	19	16860666	16860666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:16860666C>T	ENST00000552788.1	+	4	1213	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	NWD1_ENST00000339803.6_Nonsense_Mutation_p.Q270*|NWD1_ENST00000379808.3_Nonsense_Mutation_p.Q405*|NWD1_ENST00000523826.1_Nonsense_Mutation_p.Q199*|NWD1_ENST00000524140.2_Nonsense_Mutation_p.Q405*|NWD1_ENST00000549814.1_Nonsense_Mutation_p.Q405*			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	405	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCCCTGCCCAGGTTCTGGA	0.602																																																	0													47.0	49.0	48.0					19																	16860666		2203	4299	6502	SO:0001587	stop_gained	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1213C>T	19.37:g.16860666C>T	ENSP00000447224:p.Gln405*		C9J021|Q68CT3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q405*	ENST00000552788.1	37	c.1213		19	.	.	.	.	.	.	.	.	.	.	c	16.86	3.238788	0.58995	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	.	.	.	4.53	4.53	0.55603	.	0.400397	0.24925	N	0.034516	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-18.3681	15.0828	0.72127	0.0:1.0:0.0:0.0	.	.	.	.	X	270;405;405;405;199;405;270	.	ENSP00000340159:Q270X	Q	+	1	0	NWD1	16721666	0.994000	0.37717	0.829000	0.32907	0.038000	0.13279	3.263000	0.51546	2.231000	0.72958	0.639000	0.83563	CAG	NWD1	-	NULL		0.602	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	C	NM_001007525		16860666	+1	no_errors	ENST00000379808	ensembl	human	known	70_37	nonsense	SNP	0.617	T
OAS3	4940	genome.wustl.edu	37	12	113388505	113388505	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:113388505C>T	ENST00000228928.7	+	7	1561	c.1382C>T	c.(1381-1383)tCa>tTa	p.S461L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	461	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CAGGGGGGCTCATTTGGCCGG	0.602																																																	0													117.0	123.0	121.0					12																	113388505		1923	4137	6060	SO:0001583	missense	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1382C>T	12.37:g.113388505C>T	ENSP00000228928:p.Ser461Leu		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.S461L	ENST00000228928.7	37	c.1382	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573445	0.65765	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.36520	1.25	4.26	4.26	0.50523	2-5-oligoadenylate synthetase, N-terminal (1);2-5-oligoadenylate synthetase, conserved site (1);	.	.	.	.	T	0.61739	0.2371	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.68198	-0.5472	9	0.87932	D	0	.	12.0286	0.53386	0.0:1.0:0.0:0.0	.	461	Q9Y6K5	OAS3_HUMAN	L	461;460	ENSP00000228928:S461L	ENSP00000228928:S461L	S	+	2	0	OAS3	111872888	0.980000	0.34600	0.935000	0.37517	0.625000	0.37756	3.228000	0.51270	2.196000	0.70406	0.655000	0.94253	TCA	OAS3	-	pfscan_2-5-oligoadenylate_synth_N		0.602	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	C			113388505	+1	no_errors	ENST00000228928	ensembl	human	known	70_37	missense	SNP	0.184	T
OAZ2	4947	genome.wustl.edu	37	15	64981340	64981340	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:64981340C>G	ENST00000326005.6	-	5	614	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	OAZ2_ENST00000560258.2_Intron|OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560837.1_5'Flank			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	128					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	TTCATCTTCTCTTCAGCAAAC	0.517																																																	0													43.0	44.0	44.0					15																	64981340		2166	4277	6443	SO:0001583	missense	4947			AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.382G>C	15.37:g.64981340C>G	ENSP00000463013:p.Glu128Gln			Missense_Mutation	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.E128Q	ENST00000326005.6	37	c.382	CCDS58372.1	15	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738703	0.49045	.	.	ENSG00000180304	ENST00000326005;ENST00000403937	.	.	.	5.45	5.45	0.79879	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.91090	3.175	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	D	0.86610	0.1872	9	0.49607	T	0.09	.	19.2493	0.93917	0.0:1.0:0.0:0.0	.	128	O95190	OAZ2_HUMAN	Q	126	.	ENSP00000316264:E126Q	E	-	1	0	OAZ2	62768393	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	7.484000	0.81180	2.723000	0.93209	0.650000	0.86243	GAG	OAZ2	-	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase		0.517	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ2	HGNC	protein_coding	OTTHUMT00000418707.2	C	NM_002537		64981340	-1	no_errors	ENST00000326005	ensembl	human	known	70_37	missense	SNP	1.000	G
OCA2	4948	genome.wustl.edu	37	15	28202762	28202762	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:28202762G>T	ENST00000354638.3	-	16	1911	c.1756C>A	c.(1756-1758)Ctc>Atc	p.L586I	OCA2_ENST00000382996.2_Missense_Mutation_p.L586I|OCA2_ENST00000353809.5_Missense_Mutation_p.L562I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	586					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTCCGGGCGAGCAGGTGCTCC	0.657									Oculocutaneous Albinism																																								0													35.0	38.0	37.0					15																	28202762		2198	4289	6487	SO:0001583	missense	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1756C>A	15.37:g.28202762G>T	ENSP00000346659:p.Leu586Ile		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.L586I	ENST00000354638.3	37	c.1756	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237585	0.58886	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.91792	-2.91;-2.65;-2.9	5.8	4.89	0.63831	Divalent ion symporter (1);	0.000000	0.64402	D	0.000001	D	0.94298	0.8168	M	0.71206	2.165	0.45129	D	0.998148	P;D	0.56746	0.537;0.977	P;D	0.65323	0.493;0.934	D	0.93683	0.7000	10	0.52906	T	0.07	-14.3643	8.8022	0.34916	0.1686:0.0:0.8314:0.0	.	562;586	Q04671-2;Q04671	.;P_HUMAN	I	586;562;586	ENSP00000346659:L586I;ENSP00000261276:L562I;ENSP00000372457:L586I	ENSP00000261276:L562I	L	-	1	0	OCA2	25876357	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	4.786000	0.62425	1.459000	0.47892	0.591000	0.81541	CTC	OCA2	-	pfam_Cit_transptr-like_dom,tigrfam_Arsenical_pump_ArsB		0.657	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	G	NM_000275		28202762	-1	no_errors	ENST00000354638	ensembl	human	known	70_37	missense	SNP	1.000	T
OAZ2	4947	genome.wustl.edu	37	15	64981356	64981356	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:64981356C>T	ENST00000326005.6	-	5	598	c.366G>A	c.(364-366)ctG>ctA	p.L122L	OAZ2_ENST00000560258.2_Intron|OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560837.1_5'Flank			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	122					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	CAAACTCTAGCAGTGCTAACA	0.522																																																	0													40.0	41.0	41.0					15																	64981356		2141	4266	6407	SO:0001819	synonymous_variant	4947			AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.366G>A	15.37:g.64981356C>T				Silent	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.L122	ENST00000326005.6	37	c.366	CCDS58372.1	15																																																																																			OAZ2	-	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase		0.522	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ2	HGNC	protein_coding	OTTHUMT00000418707.2	C	NM_002537		64981356	-1	no_errors	ENST00000326005	ensembl	human	known	70_37	silent	SNP	1.000	T
OGDHL	55753	genome.wustl.edu	37	10	50953419	50953419	+	Missense_Mutation	SNP	C	C	T	rs376634466		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:50953419C>T	ENST00000374103.4	-	12	1685	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	OGDHL_ENST00000432695.1_Missense_Mutation_p.E325K|OGDHL_ENST00000419399.1_Missense_Mutation_p.E477K	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	534					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACTGTGCCCTCGGCAATCAGC	0.582																																																	0								C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	81.0	71.0	75.0		1429,973,1600	4.5	0.9	10		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	OGDHL	NM_001143996.1,NM_001143997.1,NM_018245.2	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	477/954,325/802,534/1011	50953419	1,13005	2203	4300	6503	SO:0001583	missense	55753			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1600G>A	10.37:g.50953419C>T	ENSP00000363216:p.Glu534Lys		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.E534K	ENST00000374103.4	37	c.1600	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040348	0.93630	0.0	1.16E-4	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95588	-3.75;-3.75;-3.75	5.4	4.48	0.54585	Dehydrogenase, E1 component (1);	0.103523	0.64402	D	0.000005	D	0.97458	0.9168	M	0.85630	2.765	0.80722	D	1	D;P;D	0.55605	0.965;0.917;0.972	P;P;P	0.60236	0.796;0.704;0.871	D	0.98130	1.0430	10	0.87932	D	0	.	16.2435	0.82429	0.0:0.8669:0.1331:0.0	.	477;325;534	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	K	534;477;325	ENSP00000363216:E534K;ENSP00000401356:E477K;ENSP00000390240:E325K	ENSP00000363216:E534K	E	-	1	0	OGDHL	50623425	1.000000	0.71417	0.883000	0.34634	0.682000	0.39822	4.876000	0.63079	1.381000	0.46364	0.650000	0.86243	GAG	OGDHL	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.582	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	C	NM_018245		50953419	-1	no_errors	ENST00000374103	ensembl	human	known	70_37	missense	SNP	1.000	T
OPRD1	4985	genome.wustl.edu	37	1	29185700	29185700	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:29185700C>G	ENST00000234961.2	+	2	704	c.462C>G	c.(460-462)gtC>gtG	p.V154V		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	154					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GCCACCCTGTCAAGGCCCTGG	0.567																																																	0													110.0	84.0	92.0					1																	29185700		2203	4300	6503	SO:0001819	synonymous_variant	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.462C>G	1.37:g.29185700C>G			B5B0B8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.V154	ENST00000234961.2	37	c.462	CCDS329.1	1																																																																																			OPRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor		0.567	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRD1	HGNC	protein_coding	OTTHUMT00000010330.1	C	NM_000911		29185700	+1	no_errors	ENST00000234961	ensembl	human	known	70_37	silent	SNP	1.000	G
OR10G7	390265	genome.wustl.edu	37	11	123909245	123909245	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:123909245G>A	ENST00000330487.5	-	1	472	c.464C>T	c.(463-465)tCt>tTt	p.S155F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S155F(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGGACAGCAGAGTGCAGAGA	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											138.0	135.0	136.0					11																	123909245		2200	4297	6497	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.464C>T	11.37:g.123909245G>A	ENSP00000329689:p.Ser155Phe		Q6IFE8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S155F	ENST00000330487.5	37	c.464	CCDS31705.1	11	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734653	0.48939	.	.	ENSG00000182634	ENST00000330487	T	0.44881	0.91	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.347872	0.20989	N	0.082077	T	0.64549	0.2608	M	0.87269	2.87	0.34183	D	0.671209	D	0.67145	0.996	D	0.76575	0.988	T	0.75789	-0.3194	10	0.87932	D	0	.	8.6875	0.34247	0.1098:0.0:0.8902:0.0	.	155	Q8NGN6	O10G7_HUMAN	F	155	ENSP00000329689:S155F	ENSP00000329689:S155F	S	-	2	0	OR10G7	123414455	0.003000	0.15002	1.000000	0.80357	0.825000	0.46686	1.272000	0.33109	1.826000	0.53198	0.455000	0.32223	TCT	OR10G7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.572	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	HGNC	protein_coding	OTTHUMT00000387271.1	G	NM_001004463		123909245	-1	no_errors	ENST00000330487	ensembl	human	known	70_37	missense	SNP	1.000	A
OR10J3	441911	genome.wustl.edu	37	1	159284332	159284332	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:159284332G>C	ENST00000332217.5	-	1	117	c.118C>G	c.(118-120)Ctc>Gtc	p.L40V		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGCCAGAGAGAGTCAGCAGG	0.463																																																	0													191.0	197.0	195.0					1																	159284332		2203	4300	6503	SO:0001583	missense	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.118C>G	1.37:g.159284332G>C	ENSP00000331789:p.Leu40Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L40V	ENST00000332217.5	37	c.118	CCDS30909.1	1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.154037	0.21371	.	.	ENSG00000196266	ENST00000332217	T	0.00512	6.89	5.12	0.556	0.17253	.	0.000000	0.24894	U	0.034746	T	0.00144	0.0004	L	0.39147	1.195	0.09310	N	1	B	0.27679	0.185	B	0.32342	0.144	T	0.41016	-0.9532	10	0.46703	T	0.11	.	5.5668	0.17175	0.2995:0.1611:0.5394:0.0	.	40	Q5JRS4	O10J3_HUMAN	V	40	ENSP00000331789:L40V	ENSP00000331789:L40V	L	-	1	0	OR10J3	157550956	0.000000	0.05858	0.998000	0.56505	0.849000	0.48306	-0.474000	0.06607	0.242000	0.21303	-0.378000	0.06908	CTC	OR10J3	-	prints_GPCR_Rhodpsn		0.463	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	G			159284332	-1	no_errors	ENST00000332217	ensembl	human	known	70_37	missense	SNP	0.062	C
OR13C2	392376	genome.wustl.edu	37	9	107366964	107366964	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:107366964G>A	ENST00000542196.1	-	1	987	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACTTGCTAAAGAACCTTCTGT	0.343																																																	0													168.0	168.0	168.0					9																	107366964		2201	4300	6501	SO:0001819	synonymous_variant	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.945C>T	9.37:g.107366964G>A			B9EGV8|Q6IF54	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F315	ENST00000542196.1	37	c.945	CCDS35092.1	9																																																																																			OR13C2	-	NULL		0.343	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	G	NM_001004481		107366964	-1	no_errors	ENST00000542196	ensembl	human	known	70_37	silent	SNP	0.000	A
OR13C2	392376	genome.wustl.edu	37	9	107367625	107367625	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:107367625G>A	ENST00000542196.1	-	1	326	c.284C>T	c.(283-285)tCt>tTt	p.S95F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCACAGCCAGAAAGGGAAAT	0.522																																																	0													102.0	98.0	99.0					9																	107367625		2203	4300	6503	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.284C>T	9.37:g.107367625G>A	ENSP00000438815:p.Ser95Phe		B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S95F	ENST00000542196.1	37	c.284	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	G	2.015	-0.426256	0.04701	.	.	ENSG00000257019	ENST00000542196	T	0.00382	7.61	3.53	0.507	0.16967	GPCR, rhodopsin-like superfamily (1);	0.765819	0.10678	U	0.646715	T	0.00328	0.0010	L	0.55481	1.735	0.09310	N	1	B	0.15719	0.014	B	0.17722	0.019	T	0.30149	-0.9988	10	0.44086	T	0.13	.	9.7021	0.40194	0.2933:0.0:0.7067:0.0	.	95	Q8NGS9	O13C2_HUMAN	F	95	ENSP00000438815:S95F	ENSP00000438815:S95F	S	-	2	0	OR13C2	106407446	0.000000	0.05858	0.002000	0.10522	0.506000	0.33950	-0.784000	0.04633	-0.058000	0.13177	-1.598000	0.00824	TCT	OR13C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.522	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	G	NM_001004481		107367625	-1	no_errors	ENST00000542196	ensembl	human	known	70_37	missense	SNP	0.000	A
OR2W3	343171	genome.wustl.edu	37	1	248058947	248058947	+	Missense_Mutation	SNP	G	G	T	rs200573092		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:248058947G>T	ENST00000360358.3	+	1	59	c.59G>T	c.(58-60)cGa>cTa	p.R20L	OR2W3_ENST00000537741.1_Missense_Mutation_p.R20L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R20Q(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTCTGACCGACCCCATCTG	0.512																																																	1	Substitution - Missense(1)	pancreas(1)											100.0	94.0	96.0					1																	248058947		2203	4300	6503	SO:0001583	missense	343171			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.59G>T	1.37:g.248058947G>T	ENSP00000353516:p.Arg20Leu		Q6IF06|Q8NG86	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R20L	ENST00000360358.3	37	c.59	CCDS31099.1	1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830283	0.32329	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.01076	5.37;5.37	5.29	-5.83	0.02325	.	0.654619	0.13888	N	0.355819	T	0.01061	0.0035	N	0.21373	0.66	0.09310	N	1	P	0.46784	0.884	P	0.45913	0.497	T	0.34925	-0.9809	10	0.59425	D	0.04	.	7.7002	0.28619	0.6371:0.0873:0.1869:0.0886	.	20	Q7Z3T1	OR2W3_HUMAN	L	20	ENSP00000445853:R20L;ENSP00000353516:R20L	ENSP00000353516:R20L	R	+	2	0	OR2W3	246125570	0.000000	0.05858	0.000000	0.03702	0.230000	0.25150	-5.545000	0.00114	-1.138000	0.02884	-0.208000	0.12717	CGA	OR2W3	-	NULL		0.512	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W3	HGNC	protein_coding	OTTHUMT00000096861.1	G	NM_001001957		248058947	+1	no_errors	ENST00000360358	ensembl	human	known	70_37	missense	SNP	0.000	T
OR4B1	119765	genome.wustl.edu	37	11	48238908	48238908	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:48238908T>C	ENST00000309562.2	+	1	565	c.547T>C	c.(547-549)Ttc>Ctc	p.F183L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAGCCTTTATTCAAGCTTGC	0.458																																																	0													156.0	146.0	149.0					11																	48238908		2201	4298	6499	SO:0001583	missense	119765			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.547T>C	11.37:g.48238908T>C	ENSP00000311605:p.Phe183Leu		Q6IF75|Q96R64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F183L	ENST00000309562.2	37	c.547	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	T	0.302	-0.972945	0.02215	.	.	ENSG00000175619	ENST00000309562	T	0.00010	9.4	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000026	T	0.00039	0.0001	N	0.00027	-2.655	0.29494	N	0.855428	B	0.19817	0.039	B	0.33690	0.168	T	0.28106	-1.0054	10	0.02654	T	1	.	8.2326	0.31608	0.0:0.0886:0.0:0.9114	.	183	Q8NGF8	OR4B1_HUMAN	L	183	ENSP00000311605:F183L	ENSP00000311605:F183L	F	+	1	0	OR4B1	48195484	0.000000	0.05858	0.996000	0.52242	0.298000	0.27526	-0.076000	0.11412	2.100000	0.63781	0.416000	0.27883	TTC	OR4B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.458	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	HGNC	protein_coding	OTTHUMT00000390554.1	T	NM_001005470		48238908	+1	no_errors	ENST00000309562	ensembl	human	known	70_37	missense	SNP	0.995	C
OR4M1	441670	genome.wustl.edu	37	14	20248702	20248702	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:20248702C>T	ENST00000315957.4	+	1	302	c.221C>T	c.(220-222)tCt>tTt	p.S74F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTGGTACTCTTCCATTACA	0.418																																																	0													286.0	306.0	299.0					14																	20248702		2203	4300	6503	SO:0001583	missense	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.221C>T	14.37:g.20248702C>T	ENSP00000319654:p.Ser74Phe		B9EH18|Q6IFA3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S74F	ENST00000315957.4	37	c.221	CCDS32021.1	14	.	.	.	.	.	.	.	.	.	.	.	16.47	3.132766	0.56828	.	.	ENSG00000176299	ENST00000315957	T	0.00840	5.63	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000272	T	0.08179	0.0204	H	0.95780	3.72	0.36793	D	0.884939	D	0.65815	0.995	D	0.63597	0.916	T	0.04607	-1.0939	10	0.87932	D	0	-16.9284	14.4139	0.67135	0.0:1.0:0.0:0.0	.	74	Q8NGD0	OR4M1_HUMAN	F	74	ENSP00000319654:S74F	ENSP00000319654:S74F	S	+	2	0	OR4M1	19318542	0.000000	0.05858	1.000000	0.80357	0.887000	0.51463	0.278000	0.18753	2.338000	0.79540	0.401000	0.26515	TCT	OR4M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.418	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	C			20248702	+1	no_errors	ENST00000315957	ensembl	human	known	70_37	missense	SNP	0.989	T
OR5H15	403274	genome.wustl.edu	37	3	97887764	97887764	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:97887764C>T	ENST00000356526.2	+	1	221	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCTTGGATATCATCCACAGTG	0.403																																																	0													71.0	73.0	72.0					3																	97887764		2202	4277	6479	SO:0001583	missense	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.221C>T	3.37:g.97887764C>T	ENSP00000373195:p.Ser74Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S74L	ENST00000356526.2	37	c.221	CCDS33799.1	3	.	.	.	.	.	.	.	.	.	.	-	11.79	1.743638	0.30865	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00832	5.64	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36815	N	0.002391	T	0.06142	0.0159	M	0.90814	3.15	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02064	-1.1220	10	0.87932	D	0	.	10.7066	0.45958	0.0:1.0:0.0:0.0	.	74	A6NDH6	O5H15_HUMAN	L	74	ENSP00000373195:S74L	ENSP00000373195:S74L	S	+	2	0	OR5H15	99370454	0.000000	0.05858	0.975000	0.42487	0.359000	0.29487	0.225000	0.17757	1.386000	0.46466	0.184000	0.17185	TCA	OR5H15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.403	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	C			97887764	+1	no_errors	ENST00000356526	ensembl	human	known	70_37	missense	SNP	0.124	T
OR5I1	10798	genome.wustl.edu	37	11	55703784	55703784	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:55703784G>C	ENST00000301532.3	-	1	92	c.93C>G	c.(91-93)ctC>ctG	p.L31L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	31					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCAGAAACATGAGGAACAGGA	0.398																																																	0													65.0	63.0	64.0					11																	55703784		2200	4295	6495	SO:0001819	synonymous_variant	10798			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.93C>G	11.37:g.55703784G>C			Q6IEU4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L31	ENST00000301532.3	37	c.93	CCDS7949.1	11																																																																																			OR5I1	-	prints_GPCR_Rhodpsn		0.398	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1	G	NM_006637		55703784	-1	no_errors	ENST00000301532	ensembl	human	known	70_37	silent	SNP	0.000	C
OR7E14P	10819	genome.wustl.edu	37	11	17073820	17073820	+	RNA	SNP	C	C	T	rs529490167		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:17073820C>T	ENST00000530490.1	+	0	612				AC116533.2_ENST00000583154.1_RNA					olfactory receptor, family 7, subfamily E, member 14 pseudogene																		ACATCGGTTTCACCTCCACCA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		22312	0.0		0.0	False		,,,				2504	0.001																0																																												10819			AF065856		11p15.1	2012-08-09			ENSG00000184669	ENSG00000184669		"""GPCR / Class A : Olfactory receptors"""	8385	pseudogene	pseudogene				OR7E151P		9787077	Standard	NR_045002		Approved	OR11-5	uc021qeh.1		OTTHUMG00000165955		11.37:g.17073820C>T				RNA	SNP	-	NULL	ENST00000530490.1	37	NULL		11																																																																																			OR7E14P	-	-		0.537	OR7E14P-002	KNOWN	basic	processed_transcript	OR7E14P	HGNC	pseudogene	OTTHUMT00000387319.1	C			17073820	+1	no_errors	ENST00000530490	ensembl	human	known	70_37	rna	SNP	0.000	T
OR5R1	219479	genome.wustl.edu	37	11	56185669	56185669	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:56185669G>C	ENST00000312253.1	-	1	39	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATTCCTTTCAGAATGAATACA	0.393																																																	0													85.0	95.0	92.0					11																	56185669		2201	4295	6496	SO:0001583	missense	219479			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.40C>G	11.37:g.56185669G>C	ENSP00000308595:p.Leu14Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L14V	ENST00000312253.1	37	c.40	CCDS31530.1	11	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582563	0.46006	.	.	ENSG00000174942	ENST00000312253	T	0.00563	6.58	5.6	4.68	0.58851	.	0.000000	0.29940	U	0.010803	T	0.03520	0.0101	H	0.95816	3.725	0.23834	N	0.996711	D	0.76494	0.999	D	0.87578	0.998	T	0.08785	-1.0705	10	0.87932	D	0	-16.6551	11.8412	0.52355	0.1405:0.0:0.8595:0.0	.	14	Q8NH85	OR5R1_HUMAN	V	14	ENSP00000308595:L14V	ENSP00000308595:L14V	L	-	1	2	OR5R1	55942245	0.964000	0.33143	0.959000	0.39883	0.262000	0.26303	1.666000	0.37460	2.649000	0.89929	0.297000	0.19635	CTG	OR5R1	-	NULL		0.393	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	HGNC	protein_coding	OTTHUMT00000334444.1	G	NM_001004744		56185669	-1	no_errors	ENST00000312253	ensembl	human	known	70_37	missense	SNP	0.969	C
OSBP2	23762	genome.wustl.edu	37	22	31283450	31283450	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:31283450G>T	ENST00000332585.6	+	4	1249	c.1145G>T	c.(1144-1146)aGt>aTt	p.S382I	OSBP2_ENST00000403222.3_Missense_Mutation_p.S217I|OSBP2_ENST00000407373.1_Missense_Mutation_p.S209I|OSBP2_ENST00000401475.1_Missense_Mutation_p.S16I|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000382310.3_Missense_Mutation_p.S382I|OSBP2_ENST00000437268.2_Missense_Mutation_p.S124I|OSBP2_ENST00000446658.2_Missense_Mutation_p.S382I	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	382					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GAGATACACAGTCGGAAATGG	0.617																																																	0													56.0	65.0	62.0					22																	31283450		2148	4256	6404	SO:0001583	missense	23762				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1145G>T	22.37:g.31283450G>T	ENSP00000332576:p.Ser382Ile		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S382I	ENST00000332585.6	37	c.1145	CCDS43002.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.952751|4.952751	0.92660|0.92660	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000445781;ENST00000401475;ENST00000424224;ENST00000437268;ENST00000452656|ENST00000454145;ENST00000453621;ENST00000431368	T;T;T;T;T;T;T|.	0.47528|.	0.84;0.84;1.4;1.3;1.4;0.87;0.87|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.041071|.	0.85682|.	D|.	0.000000|.	D|D	0.82559|0.82559	0.5063|0.5063	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.76494|.	0.999;0.992;0.997;0.997;0.999;0.997|.	D;P;D;D;D;D|.	0.71656|.	0.974;0.791;0.943;0.943;0.961;0.947|.	D|D	0.85583|0.85583	0.1241|0.1241	10|5	0.38643|.	T|.	0.18|.	-35.4361|-35.4361	17.058|17.058	0.86540|0.86540	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	124;382;217;209;382;382|.	F5H2A3;B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2|.	.;.;.;.;.;OSBP2_HUMAN|.	I|F	217;209;382;382;382;16;16;16;124;13|54	ENSP00000384213:S217I;ENSP00000385237:S209I;ENSP00000332576:S382I;ENSP00000371747:S382I;ENSP00000392080:S382I;ENSP00000385254:S16I;ENSP00000389200:S124I|.	ENSP00000332576:S382I|.	S|V	+|+	2|1	0|0	OSBP2|OSBP2	29613450|29613450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.488000|9.488000	0.97947|0.97947	2.357000|2.357000	0.79964|0.79964	0.563000|0.563000	0.77884|0.77884	AGT|GTC	OSBP2	-	superfamily_DNA-bd_dom_put		0.617	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBP2	HGNC	protein_coding	OTTHUMT00000321547.2	G	NM_030758		31283450	+1	no_errors	ENST00000332585	ensembl	human	known	70_37	missense	SNP	1.000	T
OSBPL11	114885	genome.wustl.edu	37	3	125257330	125257330	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:125257330C>T	ENST00000296220.5	-	11	2278	c.1989G>A	c.(1987-1989)gtG>gtA	p.V663V		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	663					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.V663V(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CCAGAGGTCTCACTCTTTTCT	0.428																																																	1	Substitution - coding silent(1)	lung(1)											319.0	275.0	290.0					3																	125257330		2203	4300	6503	SO:0001819	synonymous_variant	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1989G>A	3.37:g.125257330C>T			A8K9I7	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V663	ENST00000296220.5	37	c.1989	CCDS3033.1	3																																																																																			OSBPL11	-	pfam_Oxysterol-bd		0.428	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	C	NM_022776		125257330	-1	no_errors	ENST00000296220	ensembl	human	known	70_37	silent	SNP	0.557	T
OSBPL11	114885	genome.wustl.edu	37	3	125295085	125295085	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:125295085G>A	ENST00000296220.5	-	5	903	c.614C>T	c.(613-615)tCa>tTa	p.S205L		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	205					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTTGCTCAGTGATTGCAGTTT	0.353																																																	0													134.0	139.0	137.0					3																	125295085		2203	4300	6503	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.614C>T	3.37:g.125295085G>A	ENSP00000296220:p.Ser205Leu		A8K9I7	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S205L	ENST00000296220.5	37	c.614	CCDS3033.1	3	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077731	0.55753	.	.	ENSG00000144909	ENST00000296220	T	0.39787	1.06	5.06	5.06	0.68205	.	2.024510	0.02309	N	0.071910	T	0.45696	0.1355	L	0.44542	1.39	0.28330	N	0.921834	B	0.18741	0.03	B	0.18561	0.022	T	0.47114	-0.9142	10	0.22109	T	0.4	-5.6784	18.7026	0.91626	0.0:0.0:1.0:0.0	.	205	Q9BXB4	OSB11_HUMAN	L	205	ENSP00000296220:S205L	ENSP00000296220:S205L	S	-	2	0	OSBPL11	126777775	0.982000	0.34865	0.501000	0.27601	0.983000	0.72400	5.982000	0.70532	2.645000	0.89757	0.552000	0.68991	TCA	OSBPL11	-	NULL		0.353	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	G	NM_022776		125295085	-1	no_errors	ENST00000296220	ensembl	human	known	70_37	missense	SNP	0.483	A
OTC	5009	genome.wustl.edu	37	X	38211866	38211866	+	5'UTR	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:38211866C>A	ENST00000039007.4	+	0	69				TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase						ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GAACACATTTCTTAGTTTTTA	0.453																																																	0																																										SO:0001623	5_prime_UTR_variant	5009			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.-84C>A	X.37:g.38211866C>A			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	RNA	SNP	-	NULL	ENST00000039007.4	37	NULL	CCDS14247.1	X																																																																																			OTC	-	-		0.453	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTC	HGNC	protein_coding	OTTHUMT00000059006.2	C			38211866	+1	no_errors	ENST00000488812	ensembl	human	known	70_37	rna	SNP	0.005	A
OTOA	146183	genome.wustl.edu	37	16	21721247	21721247	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:21721247G>A	ENST00000286149.4	+	12	1186	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	OTOA_ENST00000388956.4_Silent_p.Q302Q|OTOA_ENST00000388957.3_Silent_p.Q57Q|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388958.3_Silent_p.Q381Q			Q7RTW8	OTOAN_HUMAN	otoancorin	395					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGGAGAACCAGACCCTCAATG	0.557																																																	0													80.0	80.0	80.0					16																	21721247		2199	4300	6499	SO:0001819	synonymous_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1185G>A	16.37:g.21721247G>A			A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	NULL	p.Q395	ENST00000286149.4	37	c.1185		16																																																																																			OTOA	-	NULL		0.557	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	G			21721247	+1	no_errors	ENST00000286149	ensembl	human	known	70_37	silent	SNP	1.000	A
PABPC1L	80336	genome.wustl.edu	37	20	43565406	43565406	+	Intron	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:43565406G>C	ENST00000217073.2	+	12	1645				PABPC1L_ENST00000537323.1_Intron|PABPC1L_ENST00000217075.2_Intron|PABPC1L_ENST00000372824.1_Intron|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000255136.3_Intron			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like						mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GGAGCAAGAAGAGGAGGGCTG	0.602																																																	0													15.0	17.0	16.0					20																	43565406		1567	3575	5142	SO:0001627	intron_variant	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1645+35G>C	20.37:g.43565406G>C			Q4VY17	RNA	SNP	-	NULL	ENST00000217073.2	37	NULL	CCDS42878.1	20																																																																																			PABPC1L	-	-		0.602	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	G			43565406	+1	no_errors	ENST00000465761	ensembl	human	known	70_37	rna	SNP	0.002	C
PACS1	55690	genome.wustl.edu	37	11	65984233	65984233	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:65984233C>T	ENST00000320580.4	+	7	998	c.965C>T	c.(964-966)tCt>tTt	p.S322F		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	322					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ACCTCAACCTCTGCCATCACA	0.522																																																	0													54.0	53.0	53.0					11																	65984233		2201	4295	6496	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.965C>T	11.37:g.65984233C>T	ENSP00000316454:p.Ser322Phe		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.S322F	ENST00000320580.4	37	c.965	CCDS8129.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143741	0.77888	.	.	ENSG00000175115	ENST00000320580	T	0.17691	2.26	4.9	4.9	0.64082	.	0.251366	0.41097	D	0.000945	T	0.25975	0.0633	N	0.19112	0.55	0.80722	D	1	P;D	0.64830	0.94;0.994	P;P	0.62298	0.641;0.9	T	0.04229	-1.0967	10	0.62326	D	0.03	-11.6397	17.0115	0.86407	0.0:1.0:0.0:0.0	.	322;322	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	F	322	ENSP00000316454:S322F	ENSP00000316454:S322F	S	+	2	0	PACS1	65740809	0.204000	0.23447	0.980000	0.43619	0.953000	0.61014	3.333000	0.52090	2.553000	0.86117	0.491000	0.48974	TCT	PACS1	-	NULL		0.522	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2	C	NM_018026		65984233	+1	no_errors	ENST00000320580	ensembl	human	known	70_37	missense	SNP	0.993	T
PADI3	51702	genome.wustl.edu	37	1	17601261	17601261	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:17601261C>T	ENST00000375460.3	+	11	1327	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	429					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGAGGATCCTCATTGGGGGCA	0.622											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													44.0	48.0	46.0					1																	17601261		2203	4299	6502	SO:0001819	synonymous_variant	51702			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1287C>T	1.37:g.17601261C>T		719	Q58EY7|Q70SX5	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L429	ENST00000375460.3	37	c.1287	CCDS179.1	1																																																																																			PADI3	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.622	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	C			17601261	+1	no_errors	ENST00000375460	ensembl	human	known	70_37	silent	SNP	1.000	T
PADI4	23569	genome.wustl.edu	37	1	17681089	17681089	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:17681089C>T	ENST00000375448.4	+	11	1243	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	406					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGACTGGACTCCTTTGGGAAC	0.552																																																	0													62.0	68.0	66.0					1																	17681089		2203	4300	6503	SO:0001583	missense	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1217C>T	1.37:g.17681089C>T	ENSP00000364597:p.Ser406Phe		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.S406F	ENST00000375448.4	37	c.1217	CCDS180.1	1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874570	0.72180	.	.	ENSG00000159339	ENST00000375448	T	0.30714	1.52	5.6	3.72	0.42706	Protein-arginine deiminase, C-terminal (1);	0.063428	0.64402	D	0.000003	T	0.41213	0.1149	M	0.91196	3.185	0.23765	N	0.9969	P	0.34462	0.454	B	0.34138	0.176	T	0.47394	-0.9121	10	0.87932	D	0	-21.635	8.6863	0.34240	0.0:0.6333:0.2893:0.0774	.	406	Q9UM07	PADI4_HUMAN	F	406	ENSP00000364597:S406F	ENSP00000364597:S406F	S	+	2	0	PADI4	17553676	1.000000	0.71417	0.840000	0.33206	0.769000	0.43574	7.246000	0.78247	0.726000	0.32339	0.561000	0.74099	TCC	PADI4	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.552	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	HGNC	protein_coding	OTTHUMT00000006799.1	C	NM_012387		17681089	+1	no_errors	ENST00000375448	ensembl	human	known	70_37	missense	SNP	0.998	T
PADI4	23569	genome.wustl.edu	37	1	17681157	17681157	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:17681157C>G	ENST00000375448.4	+	11	1311	c.1285C>G	c.(1285-1287)Ctc>Gtc	p.L429V	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	429					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGGCAGGATTCTCTTCGGGGA	0.592																																																	0													35.0	39.0	38.0					1																	17681157		2203	4300	6503	SO:0001583	missense	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1285C>G	1.37:g.17681157C>G	ENSP00000364597:p.Leu429Val		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L429V	ENST00000375448.4	37	c.1285	CCDS180.1	1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681107	0.47886	.	.	ENSG00000159339	ENST00000375448	T	0.34472	1.36	5.6	4.63	0.57726	Protein-arginine deiminase, C-terminal (1);	0.138463	0.49305	D	0.000157	T	0.47600	0.1454	L	0.56124	1.755	0.29730	N	0.837952	D	0.57899	0.981	P	0.56514	0.8	T	0.42816	-0.9429	10	0.39692	T	0.17	-42.5551	14.0238	0.64573	0.1517:0.8482:0.0:0.0	.	429	Q9UM07	PADI4_HUMAN	V	429	ENSP00000364597:L429V	ENSP00000364597:L429V	L	+	1	0	PADI4	17553744	1.000000	0.71417	0.996000	0.52242	0.340000	0.28889	2.826000	0.48104	2.645000	0.89757	0.561000	0.74099	CTC	PADI4	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.592	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	HGNC	protein_coding	OTTHUMT00000006799.1	C	NM_012387		17681157	+1	no_errors	ENST00000375448	ensembl	human	known	70_37	missense	SNP	1.000	G
PALMD	54873	genome.wustl.edu	37	1	100152712	100152712	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:100152712G>A	ENST00000263174.4	+	6	856	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	PALMD_ENST00000605497.1_Missense_Mutation_p.E161K	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	161					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GGAGATAAATGAAGAAAAAGA	0.323																																																	0													75.0	83.0	80.0					1																	100152712		2200	4297	6497	SO:0001583	missense	54873			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.481G>A	1.37:g.100152712G>A	ENSP00000263174:p.Glu161Lys		Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	pfam_Paralemmin	p.E161K	ENST00000263174.4	37	c.481	CCDS758.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732777	0.30684	.	.	ENSG00000099260	ENST00000263174	T	0.16457	2.34	5.63	4.71	0.59529	.	0.475856	0.22398	N	0.060591	T	0.03959	0.0111	N	0.21448	0.665	0.33210	D	0.553262	B;B	0.16802	0.006;0.019	B;B	0.17433	0.018;0.011	T	0.30736	-0.9968	10	0.10902	T	0.67	-15.4098	10.7246	0.46061	0.0712:0.1334:0.7954:0.0	.	161;81	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	K	161	ENSP00000263174:E161K	ENSP00000263174:E161K	E	+	1	0	PALMD	99925300	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.172000	0.42463	2.826000	0.97356	0.655000	0.94253	GAA	PALMD	-	pfam_Paralemmin		0.323	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALMD	HGNC	protein_coding	OTTHUMT00000029672.1	G	NM_017734		100152712	+1	no_errors	ENST00000263174	ensembl	human	known	70_37	missense	SNP	0.997	A
PAN2	9924	genome.wustl.edu	37	12	56718400	56718400	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56718400G>A	ENST00000425394.2	-	11	2069	c.1693C>T	c.(1693-1695)Cac>Tac	p.H565Y	PAN2_ENST00000548043.1_Missense_Mutation_p.H565Y|PAN2_ENST00000440411.3_Missense_Mutation_p.H565Y|PAN2_ENST00000257931.5_Missense_Mutation_p.H565Y	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TCCAACATGTGAAACAGGAAG	0.498																																																	0													82.0	76.0	78.0					12																	56718400		2203	4300	6503	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1693C>T	12.37:g.56718400G>A	ENSP00000401721:p.His565Tyr			Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19	p.H565Y	ENST00000425394.2	37	c.1693	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820231	0.71028	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.3	5.3	0.74995	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.16599	0.0399	M	0.76002	2.32	0.58432	D	0.999995	P;P;P	0.46706	0.724;0.724;0.883	B;B;P	0.49140	0.259;0.259;0.601	T	0.01776	-1.1276	10	0.26408	T	0.33	-18.748	18.1255	0.89584	0.0:0.0:1.0:0.0	.	565;565;565	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	Y	565	ENSP00000401721:H565Y;ENSP00000388231:H565Y;ENSP00000257931:H565Y;ENSP00000449861:H565Y	ENSP00000257931:H565Y	H	-	1	0	PAN2	55004667	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.969000	0.87988	2.650000	0.89964	0.557000	0.71058	CAC	PAN2	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.498	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	G	NM_014871		56718400	-1	no_errors	ENST00000425394	ensembl	human	known	70_37	missense	SNP	1.000	A
PARD3	56288	genome.wustl.edu	37	10	34805961	34805961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:34805961G>A	ENST00000374789.3	-	3	674	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	PARD3_ENST00000545693.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.Q117*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.Q117*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.Q117*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	117					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGGTAAGGCTGAAAGGCTGAG	0.473																																																	0													157.0	139.0	145.0					10																	34805961		2203	4300	6503	SO:0001587	stop_gained	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.349C>T	10.37:g.34805961G>A	ENSP00000363921:p.Gln117*		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q117*	ENST00000374789.3	37	c.349	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.467853	0.97590	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	.	.	.	5.93	5.93	0.95920	.	0.234684	0.45126	D	0.000388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000341844:Q117X	Q	-	1	0	PARD3	34845967	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	CAG	PARD3	-	pfam_DUF3534		0.473	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	G	NM_019619		34805961	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PARPBP	55010	genome.wustl.edu	37	12	102558365	102558366	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:102558365_102558366insA	ENST00000358383.5	+	5	690_691	c.645_646insA	c.(646-648)aaafs	p.K216fs	PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000543784.1_Frame_Shift_Ins_p.K102fs|PARPBP_ENST00000378128.3_Frame_Shift_Ins_p.K216fs|PARPBP_ENST00000541394.1_Frame_Shift_Ins_p.K293fs|PARPBP_ENST00000327680.2_Frame_Shift_Ins_p.K135fs|PARPBP_ENST00000392911.2_Frame_Shift_Ins_p.K135fs			Q9NWS1	PARI_HUMAN	PARP1 binding protein	216					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						CTGCTCGAGAGAAACAAATGTC	0.386																																																	0																																										SO:0001589	frameshift_variant	55010			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.648dupA	12.37:g.102558368_102558368dupA	ENSP00000351153:p.Lys216fs		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Frame_Shift_Ins	INS	NULL	p.Q216fs	ENST00000358383.5	37	c.645_646	CCDS9090.2	12																																																																																			PARPBP	-	NULL		0.386	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000397030.2	-	NM_017915		102558366	+1	no_errors	ENST00000358383	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
PATE3	100169851	genome.wustl.edu	37	11	125660381	125660381	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:125660381C>T	ENST00000445202.1	+	3	222	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001129883.3	NP_001123355.3	B3GLJ2	PATE3_HUMAN	prostate and testis expressed 3	61						extracellular region (GO:0005576)											AGGCAATACTCTCCAGATATC	0.378																																																	0													154.0	127.0	135.0					11																	125660381		692	1591	2283	SO:0001583	missense	100169851			EF426753	CCDS44764.1	11q24.2	2008-12-17			ENSG00000236027	ENSG00000236027		"""PATE family"""	35426	protein-coding gene	gene with protein product						18390568	Standard	NM_001129883		Approved	PATE-DJ, HEL-127	uc009zbs.3	B3GLJ2	OTTHUMG00000165857	ENST00000445202.1:c.181C>T	11.37:g.125660381C>T	ENSP00000395505:p.Leu61Phe		B5KFZ3	Missense_Mutation	SNP	NULL	p.L61F	ENST00000445202.1	37	c.181	CCDS44764.1	11	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997672	0.54147	.	.	ENSG00000236027	ENST00000445202	T	0.44083	0.93	4.19	3.28	0.37604	.	.	.	.	.	T	0.37812	0.1017	.	.	.	0.09310	N	1	P	0.44816	0.844	P	0.44772	0.46	T	0.13629	-1.0502	8	0.44086	T	0.13	.	8.1305	0.31024	0.0:0.8917:0.0:0.1083	.	61	B3GLJ2	PATE3_HUMAN	F	61	ENSP00000395505:L61F	ENSP00000395505:L61F	L	+	1	0	PATE3	125165591	0.005000	0.15991	0.008000	0.14137	0.254000	0.26022	1.350000	0.34010	1.376000	0.46267	0.561000	0.74099	CTC	PATE3	-	NULL		0.378	PATE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATE3	HGNC	protein_coding	OTTHUMT00000386731.1	C	NM_001129883		125660381	+1	no_errors	ENST00000445202	ensembl	human	known	70_37	missense	SNP	0.008	T
PCDHA8	56140	genome.wustl.edu	37	5	140222207	140222207	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:140222207C>T	ENST00000531613.1	+	1	1301	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S434L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.627																																																	0													57.0	58.0	58.0					5																	140222207		2194	4261	6455	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1301C>T	5.37:g.140222207C>T	ENSP00000434655:p.Ser434Leu		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S434L	ENST00000531613.1	37	c.1301	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017858	0.54576	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53423	0.62;0.62	3.72	3.72	0.42706	Cadherin (5);Cadherin-like (1);	0.823416	0.09813	U	0.752555	T	0.54743	0.1877	M	0.79258	2.445	0.09310	N	1	P;P	0.42827	0.791;0.568	B;B	0.40165	0.321;0.215	T	0.55192	-0.8179	10	0.72032	D	0.01	.	15.9202	0.79556	0.0:1.0:0.0:0.0	.	434;434	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	434	ENSP00000434655:S434L;ENSP00000367363:S434L	ENSP00000367363:S434L	S	+	2	0	PCDHA8	140202391	0.286000	0.24305	0.037000	0.18230	0.431000	0.31685	4.710000	0.61873	1.790000	0.52503	0.306000	0.20318	TCG	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.627	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	C	NM_018911		140222207	+1	no_errors	ENST00000531613	ensembl	human	known	70_37	missense	SNP	0.216	T
PCDHAC2	56134	genome.wustl.edu	37	5	140347080	140347080	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:140347080C>T	ENST00000289269.5	+	1	1261	c.729C>T	c.(727-729)atC>atT	p.I243I	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	243	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCACAGATCTCTGTGCGTG	0.622																																					Melanoma(190;638 2083 3390 11909 52360)												0													63.0	63.0	63.0					5																	140347080		2203	4300	6503	SO:0001819	synonymous_variant	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.729C>T	5.37:g.140347080C>T			Q2M3V1|Q9Y5F4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I243	ENST00000289269.5	37	c.729	CCDS4242.1	5																																																																																			PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.622	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	C	NM_018899		140347080	+1	no_errors	ENST00000289269	ensembl	human	known	70_37	silent	SNP	0.967	T
PCDHB11	56125	genome.wustl.edu	37	5	140580141	140580141	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:140580141C>T	ENST00000354757.3	+	1	794	c.794C>T	c.(793-795)tCa>tTa	p.S265L	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGATTGTCTCAGCTTGGGAT	0.398																																																	0													187.0	189.0	188.0					5																	140580141		2203	4300	6503	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.794C>T	5.37:g.140580141C>T	ENSP00000346802:p.Ser265Leu		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S265L	ENST00000354757.3	37	c.794	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	C	8.948	0.967502	0.18659	.	.	ENSG00000197479	ENST00000354757	T	0.01787	4.64	2.7	1.79	0.24919	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.03651	0.0104	M	0.65320	2	0.09310	N	0.999999	B	0.22851	0.076	B	0.37888	0.26	T	0.38650	-0.9651	9	0.48119	T	0.1	.	6.0384	0.19720	0.4971:0.3371:0.1658:0.0	.	265	Q9Y5F2	PCDBB_HUMAN	L	265	ENSP00000346802:S265L	ENSP00000346802:S265L	S	+	2	0	PCDHB11	140560325	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-1.129000	0.03244	0.431000	0.26258	0.467000	0.42956	TCA	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.398	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	C	NM_018931		140580141	+1	no_errors	ENST00000354757	ensembl	human	known	70_37	missense	SNP	0.001	T
PCDHGB1	56104	genome.wustl.edu	37	5	140731523	140731523	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:140731523G>A	ENST00000523390.1	+	1	1696	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	566	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGGCCTGATGGCTCCGC	0.682																																																	0													27.0	34.0	32.0					5																	140731523		2021	4177	6198	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1696G>A	5.37:g.140731523G>A	ENSP00000429273:p.Asp566Asn		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D566N	ENST00000523390.1	37	c.1696	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	17.13	3.311597	0.60414	.	.	ENSG00000254221	ENST00000523390	T	0.48201	0.82	5.39	5.39	0.77823	Cadherin-like (1);	.	.	.	.	T	0.49795	0.1578	N	0.10972	0.075	0.37216	D	0.905016	D;P	0.71674	0.998;0.866	D;P	0.69142	0.962;0.521	T	0.54234	-0.8324	9	0.25106	T	0.35	.	19.1142	0.93331	0.0:0.0:1.0:0.0	.	566;566	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	N	566	ENSP00000429273:D566N	ENSP00000429273:D566N	D	+	1	0	PCDHGB1	140711707	0.132000	0.22450	1.000000	0.80357	0.149000	0.21700	2.431000	0.44775	2.683000	0.91414	0.563000	0.77884	GAT	PCDHGB1	-	superfamily_Cadherin-like		0.682	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	G	NM_018922		140731523	+1	no_errors	ENST00000523390	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDHGA7	56108	genome.wustl.edu	37	5	140762733	140762733	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:140762733G>C	ENST00000518325.1	+	1	267	c.267G>C	c.(265-267)agG>agC	p.R89S	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGGGCAGGATAGACCGGG	0.562																																																	0													49.0	58.0	55.0					5																	140762733		2189	4295	6484	SO:0001583	missense	56108			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.267G>C	5.37:g.140762733G>C	ENSP00000430024:p.Arg89Ser		B2RN87|Q9Y5D0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R89S	ENST00000518325.1	37	c.267	CCDS54927.1	5	.	.	.	.	.	.	.	.	.	.	.	15.92	2.975244	0.53720	.	.	ENSG00000253537	ENST00000518325	T	0.35048	1.33	4.86	1.56	0.23342	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.66396	0.2785	H	0.98818	4.34	0.25513	N	0.987449	P;P	0.47910	0.698;0.902	P;B	0.53102	0.718;0.444	T	0.61436	-0.7063	9	0.87932	D	0	.	9.2375	0.37475	0.3534:0.0:0.6466:0.0	.	89;89	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	S	89	ENSP00000430024:R89S	ENSP00000430024:R89S	R	+	3	2	PCDHGA7	140742917	0.953000	0.32496	1.000000	0.80357	0.982000	0.71751	0.424000	0.21330	0.576000	0.29452	0.655000	0.94253	AGG	PCDHGA7	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.562	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA7	HGNC	protein_coding	OTTHUMT00000374744.1	G	NM_018920		140762733	+1	no_errors	ENST00000518325	ensembl	human	known	70_37	missense	SNP	0.981	C
PCF11	51585	genome.wustl.edu	37	11	82879939	82879939	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:82879939G>C	ENST00000298281.4	+	8	3014	c.2562G>C	c.(2560-2562)ctG>ctC	p.L854L		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	854	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCCCTGGTCTGAGGTTTGAGG	0.572																																																	0													73.0	74.0	73.0					11																	82879939		1919	4129	6048	SO:0001819	synonymous_variant	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2562G>C	11.37:g.82879939G>C			A6H8W7|O43671|Q6P0X8	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.L854	ENST00000298281.4	37	c.2562	CCDS44689.1	11																																																																																			PCF11	-	NULL		0.572	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	G	NM_015885		82879939	+1	no_errors	ENST00000298281	ensembl	human	known	70_37	silent	SNP	0.998	C
PCNT	5116	genome.wustl.edu	37	21	47860893	47860893	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr21:47860893G>A	ENST00000359568.5	+	43	9626	c.9519G>A	c.(9517-9519)atG>atA	p.M3173I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3173	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CACTCTCCATGATTGCCCATT	0.443																																																	0													94.0	92.0	93.0					21																	47860893		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9519G>A	21.37:g.47860893G>A	ENSP00000352572:p.Met3173Ile		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.M3173I	ENST00000359568.5	37	c.9519	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279033	0.80692	.	.	ENSG00000160299	ENST00000359568	T	0.01464	4.86	6.07	6.07	0.98685	Pericentrin/AKAP-450 centrosomal targeting domain (1);	0.000000	0.39083	N	0.001478	T	0.06005	0.0156	L	0.47716	1.5	0.33678	D	0.611758	D;D	0.64830	0.993;0.994	P;D	0.65010	0.886;0.931	T	0.07693	-1.0759	10	0.62326	D	0.03	.	10.7241	0.46057	0.0712:0.1337:0.795:0.0	.	2976;3173	O95613-2;O95613	.;PCNT_HUMAN	I	3173	ENSP00000352572:M3173I	ENSP00000352572:M3173I	M	+	3	0	PCNT	46685321	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.146000	0.31589	2.884000	0.98904	0.655000	0.94253	ATG	PCNT	-	pfam_PACT_domain		0.443	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47860893	+1	no_errors	ENST00000359568	ensembl	human	known	70_37	missense	SNP	1.000	A
PDGFRL	5157	genome.wustl.edu	37	8	17447122	17447122	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:17447122C>T	ENST00000541323.1	+	3	646	c.201C>T	c.(199-201)atC>atT	p.I67I	PDGFRL_ENST00000398074.3_Silent_p.I67I|PDGFRL_ENST00000251630.6_Silent_p.I67I	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	67	Ig-like C2-type 1.				G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CGCAGTCTATCATGATGCAAG	0.483																																																	0													116.0	110.0	112.0					8																	17447122		2203	4300	6503	SO:0001819	synonymous_variant	5157			D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.201C>T	8.37:g.17447122C>T			A8K085|Q6FH04	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I67	ENST00000541323.1	37	c.201	CCDS6003.1	8																																																																																			PDGFRL	-	pfscan_Ig-like		0.483	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRL	HGNC	protein_coding	OTTHUMT00000253366.3	C	NM_006207		17447122	+1	no_errors	ENST00000251630	ensembl	human	known	70_37	silent	SNP	0.994	T
PEAR1	375033	genome.wustl.edu	37	1	156884502	156884502	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:156884502C>G	ENST00000338302.3	+	24	3251	c.3026C>G	c.(3025-3027)tCa>tGa	p.S1009*	PEAR1_ENST00000292357.7_Nonsense_Mutation_p.S1009*			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	1009	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACTATGACTCACCCAAGAAC	0.607																																																	0													158.0	126.0	137.0					1																	156884502		2203	4300	6503	SO:0001587	stop_gained	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.3026C>G	1.37:g.156884502C>G	ENSP00000344465:p.Ser1009*		Q8TEK2	Nonsense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.S1009*	ENST00000338302.3	37	c.3026	CCDS30892.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.123431	0.99342	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	.	.	.	4.95	4.95	0.65309	.	0.000000	0.36628	N	0.002500	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7102	0.77620	0.0:1.0:0.0:0.0	.	.	.	.	X	1009	.	ENSP00000292357:S1009X	S	+	2	0	PEAR1	155151126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.267000	0.58877	2.553000	0.86117	0.591000	0.81541	TCA	PEAR1	-	NULL		0.607	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2	C	NM_001080471		156884502	+1	no_errors	ENST00000292357	ensembl	human	known	70_37	nonsense	SNP	0.994	G
PEX5L	51555	genome.wustl.edu	37	3	179576852	179576852	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:179576852C>G	ENST00000467460.1	-	8	1150	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	PEX5L_ENST00000476138.1_Missense_Mutation_p.E231Q|PEX5L_ENST00000263962.8_Missense_Mutation_p.E272Q|PEX5L_ENST00000472994.1_Missense_Mutation_p.E215Q|PEX5L_ENST00000392649.3_Missense_Mutation_p.E166Q|PEX5L_ENST00000465751.1_Missense_Mutation_p.E250Q|PEX5L_ENST00000464614.1_Missense_Mutation_p.E166Q|PEX5L_ENST00000468741.1_Missense_Mutation_p.E82Q|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.E239Q	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	274					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AAAGTTACCTCCACTGCTGCT	0.398																																																	0													141.0	140.0	140.0					3																	179576852		2203	4300	6503	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.820G>C	3.37:g.179576852C>G	ENSP00000419975:p.Glu274Gln		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E274Q	ENST00000467460.1	37	c.820	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947682	0.92593	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.43;-2.38;-2.39;-2.44;-2.45;-2.38;-2.45	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.93588	0.7953	L	0.58810	1.83	0.80722	D	1	D;D;B;D;D;D	0.89917	0.993;0.998;0.312;1.0;0.999;0.999	D;D;B;D;D;D	0.85130	0.968;0.986;0.103;0.997;0.996;0.994	D	0.93639	0.6963	10	0.72032	D	0.01	-25.3226	18.8213	0.92099	0.0:1.0:0.0:0.0	.	215;250;166;272;239;274	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	Q	274;272;239;272;166;82;231;162;215;166;250	ENSP00000419975:E274Q;ENSP00000263962:E272Q;ENSP00000418440:E239Q;ENSP00000376420:E166Q;ENSP00000418665:E82Q;ENSP00000420555:E231Q;ENSP00000418054:E215Q;ENSP00000417270:E166Q;ENSP00000419348:E250Q	ENSP00000263962:E272Q	E	-	1	0	PEX5L	181059546	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.397000	0.73239	2.754000	0.94517	0.558000	0.71614	GAG	PEX5L	-	NULL		0.398	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	C	NM_016559		179576852	-1	no_errors	ENST00000467460	ensembl	human	known	70_37	missense	SNP	1.000	G
PFKFB1	5207	genome.wustl.edu	37	X	54984742	54984742	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:54984742G>A	ENST00000375006.3	-	6	583	c.513C>T	c.(511-513)atC>atT	p.I171I	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.I106I	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	171	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TCCTTACCCTGATGTTTTCTG	0.408																																																	0													129.0	106.0	113.0					X																	54984742		2203	4300	6503	SO:0001819	synonymous_variant	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.513C>T	X.37:g.54984742G>A			B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.I171	ENST00000375006.3	37	c.513	CCDS14364.1	X																																																																																			PFKFB1	-	pfam_6Phosfructo_kin,pirsf_Bifunct_6PFK/fruc_bisP_Ptase		0.408	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB1	HGNC	protein_coding	OTTHUMT00000056847.1	G			54984742	-1	no_errors	ENST00000375006	ensembl	human	known	70_37	silent	SNP	0.997	A
PGAM2	5224	genome.wustl.edu	37	7	44104591	44104591	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:44104591C>T	ENST00000297283.3	-	2	492	c.435G>A	c.(433-435)ctG>ctA	p.L145L	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	145					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CCCCGGGCTTCAGGCCTGCGT	0.667																																																	0													32.0	33.0	33.0					7																	44104591		2202	4300	6502	SO:0001819	synonymous_variant	5224				CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.435G>A	7.37:g.44104591C>T				Silent	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.L145	ENST00000297283.3	37	c.435	CCDS34624.1	7																																																																																			PGAM2	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1		0.667	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM2	HGNC	protein_coding	OTTHUMT00000339614.1	C			44104591	-1	no_errors	ENST00000297283	ensembl	human	known	70_37	silent	SNP	1.000	T
PIGK	10026	genome.wustl.edu	37	1	77557973	77557973	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:77557973G>C	ENST00000370812.3	-	0	1297				PIGK_ENST00000445065.1_3'UTR|PIGK_ENST00000370813.5_3'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K						attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						ATTCATACAAGAGAAACACAT	0.244																																																	0																																										SO:0001624	3_prime_UTR_variant	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.*86C>G	1.37:g.77557973G>C			B2R7K3|B4E2M3|O14822|Q5TG77	RNA	SNP	-	NULL	ENST00000370812.3	37	NULL	CCDS674.1	1																																																																																			PIGK	-	-		0.244	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGK	HGNC	protein_coding	OTTHUMT00000026687.1	G	NM_005482		77557973	-1	no_errors	ENST00000487906	ensembl	human	known	70_37	rna	SNP	0.007	C
DNM3	26052	genome.wustl.edu	37	1	172366306	172366306	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:172366306C>G	ENST00000355305.5	+	20	2697				PIGC_ENST00000484368.1_5'UTR|DNM3_ENST00000367731.1_Intron|DNM3_ENST00000358155.4_Intron			Q9UQ16	DYN3_HUMAN	dynamin 3						endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTACTTACTTCTTAAAACAAC	0.368																																																	0																																										SO:0001627	intron_variant	5279			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2540+8357C>G	1.37:g.172366306C>G			A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	RNA	SNP	-	NULL	ENST00000355305.5	37	NULL		1																																																																																			PIGC	-	-		0.368	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	PIGC	HGNC	protein_coding	OTTHUMT00000084531.1	C	NM_015569		172366306	-1	no_errors	ENST00000484368	ensembl	human	known	70_37	rna	SNP	0.683	G
PIK3CA	5290	genome.wustl.edu	37	3	178916881	178916881	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:178916881T>C	ENST00000263967.3	+	2	425	c.268T>C	c.(268-270)Tgt>Cgt	p.C90R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	90	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				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)			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)	AAGACGACTTTGTGACCTTCG	0.373		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0													106.0	101.0	103.0					3																	178916881		1820	4076	5896	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.268T>C	3.37:g.178916881T>C	ENSP00000263967:p.Cys90Arg		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.C90R	ENST00000263967.3	37	c.268	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833445	0.71258	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.75367	-0.93;-0.93	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86301	0.5900	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87355	0.2340	9	.	.	.	-21.1026	15.4956	0.75646	0.0:0.0:0.0:1.0	.	90	P42336	PK3CA_HUMAN	R	90	ENSP00000263967:C90R;ENSP00000417479:C90R	.	C	+	1	0	PIK3CA	180399575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.059000	0.61396	0.454000	0.30748	TGT	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	T			178916881	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	C
PIK3R1	5295	genome.wustl.edu	37	5	67576382	67576382	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:67576382C>G	ENST00000521381.1	+	6	1277	c.661C>G	c.(661-663)Cag>Gag	p.Q221E	PIK3R1_ENST00000274335.5_Missense_Mutation_p.Q221E|PIK3R1_ENST00000521657.1_Missense_Mutation_p.Q221E|PIK3R1_ENST00000396611.1_Missense_Mutation_p.Q221E	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	221	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGAATATATTCAGCTATTGAA	0.353			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											119.0	136.0	130.0					5																	67576382		2203	4300	6503	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.661C>G	5.37:g.67576382C>G	ENSP00000428056:p.Gln221Glu		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.Q221E	ENST00000521381.1	37	c.661	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493716	0.26774	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.61	4.74	0.60224	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	N	0.21373	0.66	0.80722	D	1	B	0.27910	0.193	B	0.30029	0.11	T	0.04153	-1.0973	10	0.06236	T	0.91	-15.2429	13.924	0.63950	0.0:0.9272:0.0:0.0728	.	221	P27986	P85A_HUMAN	E	221;221;221;221;123	ENSP00000428056:Q221E;ENSP00000429277:Q221E;ENSP00000379855:Q221E;ENSP00000274335:Q221E;ENSP00000428566:Q123E	ENSP00000274335:Q221E	Q	+	1	0	PIK3R1	67612138	1.000000	0.71417	0.989000	0.46669	0.503000	0.33858	5.591000	0.67536	2.643000	0.89663	0.462000	0.41574	CAG	PIK3R1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.353	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	C	NM_181504		67576382	+1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	G
PIK3R3	8503	genome.wustl.edu	37	1	46546420	46546420	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:46546420G>A	ENST00000262741.5	-	2	798	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	PIK3R3_ENST00000540385.1_Missense_Mutation_p.L83F|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.L37F|PIK3R3_ENST00000372006.1_Missense_Mutation_p.L37F|PIK3R3_ENST00000354242.4_Missense_Mutation_p.L37F|PIK3R3_ENST00000423209.1_Missense_Mutation_p.L37F	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	37	Pro-rich.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TTTGGTGGAAGAGCTAGAAGA	0.393																																																	0													198.0	208.0	204.0					1																	46546420		2203	4300	6503	SO:0001583	missense	8503			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.109C>T	1.37:g.46546420G>A	ENSP00000262741:p.Leu37Phe		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.L83F	ENST00000262741.5	37	c.247	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400497	0.62177	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000540385;ENST00000423209;ENST00000425892	T;T;T;D;D;D;T	0.82803	-1.49;-1.49;-1.49;-1.65;-1.53;-1.65;0.81	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.91054	0.7185	M	0.76838	2.35	0.80722	D	1	D;P;B;P	0.89917	1.0;0.899;0.402;0.868	D;B;B;B	0.85130	0.997;0.436;0.165;0.312	D	0.91353	0.5106	10	0.52906	T	0.07	.	17.591	0.87997	0.0:0.0:1.0:0.0	.	83;70;37;37	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	F	37;37;37;37;83;37;37	ENSP00000361075:L37F;ENSP00000262741:L37F;ENSP00000412546:L37F;ENSP00000346188:L37F;ENSP00000439913:L83F;ENSP00000391431:L37F;ENSP00000416647:L37F	ENSP00000262741:L37F	L	-	1	0	PIK3R3	46319007	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.543000	0.82106	2.521000	0.84997	0.467000	0.42956	CTT	PIK3R3	-	NULL		0.393	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	G	NM_003629		46546420	-1	no_errors	ENST00000540385	ensembl	human	known	70_37	missense	SNP	1.000	A
PIKFYVE	200576	genome.wustl.edu	37	2	209138367	209138367	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:209138367C>G	ENST00000264380.4	+	3	390	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.Q78E|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.Q78E|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.Q78E	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	78					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						GACCAGCCCTCAGCTCCCTTC	0.502																																																	0													100.0	96.0	97.0					2																	209138367		2203	4300	6503	SO:0001583	missense	200576			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.232C>G	2.37:g.209138367C>G	ENSP00000264380:p.Gln78Glu		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.Q78E	ENST00000264380.4	37	c.232	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622194	0.66787	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000422495;ENST00000452564	T;T;T;T	0.64438	1.61;-0.1;-0.07;1.76	5.65	5.65	0.86999	.	0.146518	0.47455	D	0.000233	T	0.61110	0.2321	N	0.14661	0.345	0.24464	N	0.994424	B;P;P;P;P	0.49447	0.233;0.924;0.811;0.713;0.811	B;P;P;P;P	0.62298	0.066;0.9;0.764;0.585;0.764	T	0.52726	-0.8537	10	0.07813	T	0.8	-14.1471	18.2766	0.90085	0.0:1.0:0.0:0.0	.	78;78;78;78;78	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	E	78	ENSP00000264380:Q78E;ENSP00000384356:Q78E;ENSP00000414477:Q78E;ENSP00000405736:Q78E	ENSP00000264380:Q78E	Q	+	1	0	PIKFYVE	208846612	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	5.072000	0.64389	2.824000	0.97209	0.655000	0.94253	CAG	PIKFYVE	-	NULL		0.502	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	C	NM_015040		209138367	+1	no_errors	ENST00000264380	ensembl	human	known	70_37	missense	SNP	1.000	G
PIP4K2B	8396	genome.wustl.edu	37	17	36935684	36935684	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:36935684C>T	ENST00000269554.3	-	5	1086	c.606G>A	c.(604-606)agG>agA	p.R202R	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	202	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGAACACGTTCCTGGTAACCA	0.547																																																	0													179.0	132.0	148.0					17																	36935684		2203	4300	6503	SO:0001819	synonymous_variant	8396			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.606G>A	17.37:g.36935684C>T			Q5U0E8|Q8TBP2	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R202	ENST00000269554.3	37	c.606	CCDS11329.1	17																																																																																			PIP4K2B	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.547	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2B	HGNC	protein_coding	OTTHUMT00000256791.1	C	NM_003559		36935684	-1	no_errors	ENST00000269554	ensembl	human	known	70_37	silent	SNP	1.000	T
PIP5K1B	8395	genome.wustl.edu	37	9	71532470	71532470	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:71532470G>C	ENST00000265382.3	+	9	1083	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.E260Q	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	260	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TCAGGTGCTAGAAAGCTTCAA	0.443																																																	0													250.0	269.0	263.0					9																	71532470		2203	4300	6503	SO:0001583	missense	8395			U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.778G>C	9.37:g.71532470G>C	ENSP00000265382:p.Glu260Gln		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.E300Q	ENST00000265382.3	37	c.898	CCDS6624.1	9	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105336	0.56291	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.37235	1.21;1.21	5.96	5.96	0.96718	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	N	0.21282	0.65	0.58432	D	0.999999	B	0.33477	0.413	B	0.32393	0.145	T	0.03017	-1.1082	10	0.25106	T	0.35	-3.5952	20.422	0.99049	0.0:0.0:1.0:0.0	.	260	O14986	PI51B_HUMAN	Q	260;260;260;207	ENSP00000438082:E260Q;ENSP00000265382:E260Q	ENSP00000265382:E260Q	E	+	1	0	PIP5K1B	70722290	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.822000	0.86651	2.832000	0.97577	0.655000	0.94253	GAA	PIP5K1B	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.443	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP5K1B	HGNC	protein_coding	OTTHUMT00000052561.2	G	NM_003558		71532470	+1	no_errors	ENST00000478500	ensembl	human	known	70_37	missense	SNP	1.000	C
PKD1L2	114780	genome.wustl.edu	37	16	81208268	81208268	+	RNA	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:81208268G>A	ENST00000527937.1	-	0	716				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCCGCACGCAGACCCTGGGGC	0.597																																																	0																																												114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81208268G>A			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like	p.V201	ENST00000527937.1	37	c.603		16																																																																																			DKFZP686J19100	-	pfscan_REJ-like		0.597	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	PKD1L2	Uniprot_genename	polymorphic_pseudogene	OTTHUMT00000387978.1	G			81208268	-1	no_errors	ENST00000527937	ensembl	human	known	70_37	silent	SNP	0.057	A
PKHD1	5314	genome.wustl.edu	37	6	51613396	51613396	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:51613396G>T	ENST00000371117.3	-	58	9293	c.9018C>A	c.(9016-9018)ttC>ttA	p.F3006L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3006L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3006					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACACATTACTGAATTCAACAG	0.438																																																	0													80.0	82.0	81.0					6																	51613396		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9018C>A	6.37:g.51613396G>T	ENSP00000360158:p.Phe3006Leu		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.F3006L	ENST00000371117.3	37	c.9018	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	1.625	-0.520479	0.04171	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89415	-2.32;-2.51	5.67	3.9	0.45041	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.285656	0.35235	N	0.003358	T	0.65091	0.2658	N	0.13098	0.295	0.32464	N	0.543697	B;B;B	0.23316	0.025;0.003;0.083	B;B;B	0.25405	0.028;0.006;0.06	T	0.53933	-0.8368	10	0.34782	T	0.22	.	8.7561	0.34645	0.2283:0.0:0.7717:0.0	.	3006;3006;3006	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3006	ENSP00000360158:F3006L;ENSP00000341097:F3006L	ENSP00000341097:F3006L	F	-	3	2	PKHD1	51721355	1.000000	0.71417	0.437000	0.26809	0.002000	0.02628	2.385000	0.44371	0.750000	0.32877	-0.142000	0.14014	TTC	PKHD1	-	superfamily_Pectin_lyase_fold/virulence		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51613396	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.905	T
PLA2G4A	5321	genome.wustl.edu	37	1	186876127	186876127	+	Missense_Mutation	SNP	G	G	A	rs373613129		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:186876127G>A	ENST00000367466.3	+	6	561	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	137	Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AATGTCTCTTGAAGTTTGGTA	0.269																																																	0								G	LYS/GLU	1,4401	2.1+/-5.4	0,1,2200	74.0	75.0	75.0		409	5.6	1.0	1		75	0,8576		0,0,4288	no	missense	PLA2G4A	NM_024420.2	56	0,1,6488	AA,AG,GG		0.0,0.0227,0.0077	benign	137/750	186876127	1,12977	2201	4288	6489	SO:0001583	missense	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.409G>A	1.37:g.186876127G>A	ENSP00000356436:p.Glu137Lys		B1AKG4|Q29R80	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E137K	ENST00000367466.3	37	c.409	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855989	0.51376	2.27E-4	0.0	ENSG00000116711	ENST00000367466	T	0.63580	-0.05	5.63	5.63	0.86233	Lysophospholipase, catalytic domain (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.61218	1.895	0.80722	D	1	B	0.30763	0.294	B	0.20955	0.032	T	0.55379	-0.8150	10	0.27082	T	0.32	-25.6868	17.5287	0.87808	0.0:0.0:1.0:0.0	.	137	P47712	PA24A_HUMAN	K	137	ENSP00000356436:E137K	ENSP00000356436:E137K	E	+	1	0	PLA2G4A	185142750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.619000	0.67729	2.814000	0.96858	0.563000	0.77884	GAA	PLA2G4A	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_LysoPLipase_cat_dom		0.269	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	G	NM_024420		186876127	+1	no_errors	ENST00000367466	ensembl	human	known	70_37	missense	SNP	1.000	A
PLCB1	23236	genome.wustl.edu	37	20	8769323	8769323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:8769323G>T	ENST00000338037.6	+	29	3259	c.3232G>T	c.(3232-3234)Gag>Tag	p.E1078*	PLCB1_ENST00000378637.2_Nonsense_Mutation_p.E1078*|PLCB1_ENST00000378641.3_Nonsense_Mutation_p.E1078*	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1078					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAGAGGCAGGAGAAGATAAC	0.348																																																	0													71.0	68.0	69.0					20																	8769323		2203	4300	6503	SO:0001587	stop_gained	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3232G>T	20.37:g.8769323G>T	ENSP00000338185:p.Glu1078*		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Nonsense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E1078*	ENST00000338037.6	37	c.3232	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	45	11.505314	0.99569	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	.	.	.	5.28	5.28	0.74379	.	0.244350	0.40554	N	0.001070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.2739	0.90077	0.0:0.0:1.0:0.0	.	.	.	.	X	1078;1078;1078;998;998	.	ENSP00000338185:E1078X	E	+	1	0	PLCB1	8717323	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.160000	0.94734	2.640000	0.89533	0.563000	0.77884	GAG	PLCB1	-	pirsf_PLC-beta,pfam_PLC-beta_C		0.348	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	G			8769323	+1	no_errors	ENST00000338037	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PLEC	5339	genome.wustl.edu	37	8	144994196	144994196	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144994196C>G	ENST00000322810.4	-	32	10373	c.10204G>C	c.(10204-10206)Gag>Cag	p.E3402Q	PLEC_ENST00000527096.1_Missense_Mutation_p.E3288Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3265Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3265Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3233Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3251Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3269Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3292Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3243Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3402	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCCGCTGCTCCGCAGTGAAG	0.587																																																	0													57.0	65.0	62.0					8																	144994196		2172	4268	6440	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10204G>C	8.37:g.144994196C>G	ENSP00000323856:p.Glu3402Gln		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E3402Q	ENST00000322810.4	37	c.10204	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452028	0.26074	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78924	-1.18;-1.18;-1.22;-1.21;-1.2;-1.18;-1.18;-1.18;-1.18	4.76	4.76	0.60689	.	0.000000	0.64402	U	0.000006	D	0.83018	0.5163	M	0.66939	2.045	0.53688	D	0.999976	D;D;D;D;D;D;D;D	0.54397	0.963;0.963;0.963;0.966;0.963;0.963;0.963;0.963	P;P;P;P;P;P;P;P	0.52424	0.698;0.698;0.698;0.502;0.698;0.698;0.698;0.698	D	0.84991	0.0894	10	0.54805	T	0.06	.	17.7535	0.88442	0.0:1.0:0.0:0.0	.	3292;3251;3243;3402;3233;3265;3269;3265	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3265;3269;3265;3233;3402;3243;3251;3292;3288	ENSP00000344848:E3265Q;ENSP00000350277:E3269Q;ENSP00000346602:E3265Q;ENSP00000381756:E3233Q;ENSP00000323856:E3402Q;ENSP00000347044:E3243Q;ENSP00000348702:E3251Q;ENSP00000388180:E3292Q;ENSP00000434583:E3288Q	ENSP00000323856:E3402Q	E	-	1	0	PLEC	145066184	1.000000	0.71417	0.838000	0.33150	0.395000	0.30598	5.686000	0.68211	2.322000	0.78497	0.448000	0.29417	GAG	PLEC	-	NULL		0.587	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144994196	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	G
PLEC	5339	genome.wustl.edu	37	8	144996497	144996497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144996497C>A	ENST00000322810.4	-	32	8072	c.7903G>T	c.(7903-7905)Gaa>Taa	p.E2635*	PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2521*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2498*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2498*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2466*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2484*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2502*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2525*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2476*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2635	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGTCCTTTTCAGAGAGGAAG	0.617																																																	0													25.0	28.0	27.0					8																	144996497		2095	4208	6303	SO:0001587	stop_gained	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7903G>T	8.37:g.144996497C>A	ENSP00000323856:p.Glu2635*		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2635*	ENST00000322810.4	37	c.7903	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	c	47	13.596326	0.99752	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.38	4.38	0.52667	.	0.080901	0.46442	U	0.000288	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	16.7261	0.85422	0.0:1.0:0.0:0.0	.	.	.	.	X	2498;2502;2498;2466;2635;2476;2484;2525;2521	.	ENSP00000323856:E2635X	E	-	1	0	PLEC	145068485	1.000000	0.71417	0.931000	0.37212	0.162000	0.22319	7.497000	0.81536	2.289000	0.77006	0.443000	0.29094	GAA	PLEC	-	NULL		0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144996497	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	nonsense	SNP	0.998	A
PLEC	5339	genome.wustl.edu	37	8	144997454	144997454	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:144997454C>G	ENST00000322810.4	-	31	7223	c.7054G>C	c.(7054-7056)Gag>Cag	p.E2352Q	PLEC_ENST00000527096.1_Missense_Mutation_p.E2238Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2215Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2215Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2183Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2201Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2219Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2242Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2193Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2352	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCGTGGCCTCCGCCTTCAGC	0.667																																																	0													14.0	15.0	15.0					8																	144997454		2124	4225	6349	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7054G>C	8.37:g.144997454C>G	ENSP00000323856:p.Glu2352Gln		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2352Q	ENST00000322810.4	37	c.7054	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	8.157	0.788703	0.16258	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78364	-1.14;-1.14;-1.17;-1.17;-1.15;-1.14;-1.06;-1.14;-1.14	5.11	5.11	0.69529	.	0.000000	0.64402	U	0.000006	T	0.81019	0.4736	M	0.72894	2.215	0.50313	D	0.999864	P;P;P;P;P;P;P;P	0.51537	0.946;0.946;0.946;0.911;0.946;0.946;0.946;0.946	P;P;P;B;P;P;P;P	0.46253	0.509;0.509;0.509;0.311;0.509;0.509;0.509;0.509	D	0.83626	0.0142	10	0.54805	T	0.06	.	18.1196	0.89567	0.0:1.0:0.0:0.0	.	2242;2201;2193;2352;2183;2215;2219;2215	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2215;2219;2215;2183;2352;2193;2201;2242;2238	ENSP00000344848:E2215Q;ENSP00000350277:E2219Q;ENSP00000346602:E2215Q;ENSP00000381756:E2183Q;ENSP00000323856:E2352Q;ENSP00000347044:E2193Q;ENSP00000348702:E2201Q;ENSP00000388180:E2242Q;ENSP00000434583:E2238Q	ENSP00000323856:E2352Q	E	-	1	0	PLEC	145069442	1.000000	0.71417	0.713000	0.30519	0.229000	0.25112	4.695000	0.61767	2.372000	0.80975	0.549000	0.68633	GAG	PLEC	-	NULL		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144997454	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.998	G
PLEC	5339	genome.wustl.edu	37	8	145003949	145003949	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:145003949C>G	ENST00000322810.4	-	23	3368	c.3199G>C	c.(3199-3201)Gag>Cag	p.E1067Q	PLEC_ENST00000527096.1_Missense_Mutation_p.E953Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E930Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E930Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E898Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E916Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E934Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E957Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E908Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1067	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TAGTGCAGCTCCAGGCTGTGC	0.711																																																	0													10.0	13.0	12.0					8																	145003949		2053	4131	6184	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3199G>C	8.37:g.145003949C>G	ENSP00000323856:p.Glu1067Gln		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E1067Q	ENST00000322810.4	37	c.3199	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724995	0.30593	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77877	-1.1;-1.09;-1.13;-1.12;-1.11;-1.09;-1.09;-1.09;-1.09	4.79	4.79	0.61399	.	0.000000	0.64402	U	0.000015	T	0.66752	0.2821	N	0.17082	0.46	0.46564	D	0.999102	P;P;P;P;P;P;P;P	0.45715	0.865;0.865;0.865;0.787;0.865;0.865;0.865;0.865	B;B;B;B;B;B;B;B	0.42555	0.391;0.391;0.391;0.219;0.391;0.391;0.391;0.391	T	0.67522	-0.5649	10	0.28530	T	0.3	.	17.4376	0.87557	0.0:1.0:0.0:0.0	.	957;916;908;1067;898;930;934;930	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	930;934;930;898;1067;908;916;957;953	ENSP00000344848:E930Q;ENSP00000350277:E934Q;ENSP00000346602:E930Q;ENSP00000381756:E898Q;ENSP00000323856:E1067Q;ENSP00000347044:E908Q;ENSP00000348702:E916Q;ENSP00000388180:E957Q;ENSP00000434583:E953Q	ENSP00000323856:E1067Q	E	-	1	0	PLEC	145075937	0.996000	0.38824	1.000000	0.80357	0.513000	0.34164	1.573000	0.36472	2.198000	0.70561	0.551000	0.68910	GAG	PLEC	-	NULL		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		145003949	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	G
PLEKHA1	59338	genome.wustl.edu	37	10	124172455	124172455	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:124172455C>G	ENST00000368990.3	+	6	493	c.362C>G	c.(361-363)tCa>tGa	p.S121*	PLEKHA1_ENST00000368989.2_Nonsense_Mutation_p.S121*|PLEKHA1_ENST00000538022.1_Nonsense_Mutation_p.S121*|PLEKHA1_ENST00000433307.1_Nonsense_Mutation_p.S121*|PLEKHA1_ENST00000368988.1_Nonsense_Mutation_p.S121*|PLEKHA1_ENST00000494222.1_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	121					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGTCAGACTCACAGCCTAAT	0.383																																																	0													111.0	98.0	103.0					10																	124172455		2203	4300	6503	SO:0001587	stop_gained	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.362C>G	10.37:g.124172455C>G	ENSP00000357986:p.Ser121*		B3KQ55|D3DRE2|Q9BVK0	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S121*	ENST00000368990.3	37	c.362	CCDS7629.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.492317	0.97612	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	.	.	.	5.88	5.88	0.94601	.	0.374339	0.30999	N	0.008452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-7.477	20.2314	0.98350	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000357984:S121X	S	+	2	0	PLEKHA1	124162445	0.975000	0.34042	1.000000	0.80357	0.985000	0.73830	1.893000	0.39758	2.789000	0.95967	0.591000	0.81541	TCA	PLEKHA1	-	NULL		0.383	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	C	NM_001001974		124172455	+1	no_errors	ENST00000368990	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PLOD1	5351	genome.wustl.edu	37	1	12004636	12004636	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:12004636G>A	ENST00000196061.4	+	2	103				PLOD1_ENST00000376369.3_Missense_Mutation_p.R45K|PLOD1_ENST00000485046.1_Intron	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1						cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTGGGGAGAGACTTCACC	0.587																																																	0													19.0	17.0	18.0					1																	12004636		876	1991	2867	SO:0001627	intron_variant	5351			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.77-3397G>A	1.37:g.12004636G>A			B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R45K	ENST00000196061.4	37	c.134	CCDS142.1	1	.	.	.	.	.	.	.	.	.	.	G	7.443	0.641106	0.14386	.	.	ENSG00000083444	ENST00000449038;ENST00000376369	T;T	0.62639	2.58;0.01	3.91	0.971	0.19698	.	.	.	.	.	T	0.29652	0.0740	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.28713	-1.0035	8	0.02654	T	1	.	3.6463	0.08186	0.2374:0.2297:0.5329:0.0	.	45	B4DR87	.	K	45	ENSP00000414443:R45K;ENSP00000365548:R45K	ENSP00000365548:R45K	R	+	2	0	PLOD1	11927223	0.001000	0.12720	0.002000	0.10522	0.045000	0.14185	0.346000	0.19997	0.432000	0.26286	0.462000	0.41574	AGA	PLOD1	-	NULL		0.587	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	G	NM_000302		12004636	+1	no_errors	ENST00000376369	ensembl	human	known	70_37	missense	SNP	0.001	A
PLXNB1	5364	genome.wustl.edu	37	3	48459942	48459942	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:48459942C>T	ENST00000358536.4	-	14	3234	c.2965G>A	c.(2965-2967)Gag>Aag	p.E989K	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E989K|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E806K|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E806K	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	989					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCAGAGCCTCATAGCTGAGC	0.622																																																	0													21.0	26.0	24.0					3																	48459942		2187	4287	6474	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2965G>A	3.37:g.48459942C>T	ENSP00000351338:p.Glu989Lys		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,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.E989K	ENST00000358536.4	37	c.2965	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825077	0.50739	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	5.59	1.74	0.24563	.	0.633028	0.16348	N	0.218375	T	0.02848	0.0085	L	0.41492	1.28	0.58432	D	0.999994	B;B	0.11235	0.001;0.004	B;B	0.15052	0.001;0.012	T	0.47341	-0.9125	10	0.27785	T	0.31	.	0.7888	0.01053	0.163:0.3625:0.1586:0.316	.	989;806	O43157;O43157-2	PLXB1_HUMAN;.	K	989;806;989;806	ENSP00000296440:E989K;ENSP00000351242:E806K;ENSP00000351338:E989K;ENSP00000414199:E806K	ENSP00000296440:E989K	E	-	1	0	PLXNB1	48434946	0.000000	0.05858	0.989000	0.46669	0.921000	0.55340	-0.082000	0.11304	0.302000	0.22762	0.561000	0.74099	GAG	PLXNB1	-	NULL		0.622	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	C	NM_002673		48459942	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	missense	SNP	0.912	T
PMFBP1	83449	genome.wustl.edu	37	16	72159139	72159139	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:72159139C>G	ENST00000237353.10	-	16	2680	c.2419G>C	c.(2419-2421)Gag>Cag	p.E807Q	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E662Q|PMFBP1_ENST00000537792.1_5'Flank|PMFBP1_ENST00000537465.1_Missense_Mutation_p.E812Q	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	812						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCCTCACCTCCAGCTCACTC	0.507											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79.0	84.0	82.0					16																	72159139		2198	4300	6498	SO:0001583	missense	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2419G>C	16.37:g.72159139C>G	ENSP00000237353:p.Glu807Gln	1135	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.E812Q	ENST00000237353.10	37	c.2434	CCDS32483.1	16	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591905	0.46214	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.19532	2.14;2.14;2.14	5.5	5.5	0.81552	.	0.000000	0.47455	D	0.000227	T	0.44435	0.1293	M	0.70595	2.14	0.32807	D	0.500947	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.87578	0.996;0.998;0.991	T	0.51348	-0.8717	10	0.26408	T	0.33	-27.4417	14.9047	0.70709	0.0:1.0:0.0:0.0	.	812;807;812	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	Q	812;807;662	ENSP00000443817:E812Q;ENSP00000237353:E807Q;ENSP00000347854:E662Q	ENSP00000237353:E807Q	E	-	1	0	PMFBP1	70716640	0.991000	0.36638	0.964000	0.40570	0.195000	0.23768	3.737000	0.55060	2.585000	0.87301	0.555000	0.69702	GAG	PMFBP1	-	NULL		0.507	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	C	NM_031293		72159139	-1	no_errors	ENST00000537465	ensembl	human	known	70_37	missense	SNP	0.983	G
PMP22	5376	genome.wustl.edu	37	17	15142858	15142858	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:15142858G>C	ENST00000395938.2	-	4	443	c.249C>G	c.(247-249)ttC>ttG	p.F83L	PMP22_ENST00000494511.1_Missense_Mutation_p.L24V|snoU13_ENST00000458745.1_RNA|PMP22_ENST00000312280.3_Missense_Mutation_p.F83L|PMP22_ENST00000426385.3_Missense_Mutation_p.F83L|PMP22_ENST00000395936.1_Missense_Mutation_p.F83L	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	83					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		GTTGGCAGAAGAACAGGAACA	0.493																																																	0													128.0	99.0	109.0					17																	15142858		2203	4300	6503	SO:0001583	missense	5376			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.249C>G	17.37:g.15142858G>C	ENSP00000379269:p.Phe83Leu		Q8WV01	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22,prints_PMP22_EMP_MP20	p.F83L	ENST00000395938.2	37	c.249	CCDS11168.1	17	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979640	0.53827	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385;ENST00000395936	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.61	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.94558	0.8247	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.93812	0.7111	10	0.26408	T	0.33	-52.2418	14.2282	0.65873	0.0725:0.0:0.9275:0.0	.	83	Q01453	PMP22_HUMAN	L	83	ENSP00000379269:F83L;ENSP00000308937:F83L;ENSP00000409824:F83L;ENSP00000379268:F83L	ENSP00000308937:F83L	F	-	3	2	PMP22	15083583	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.515000	0.67049	1.500000	0.48636	0.655000	0.94253	TTC	PMP22	-	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22		0.493	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP22	HGNC	protein_coding	OTTHUMT00000130378.1	G	NM_000304		15142858	-1	no_errors	ENST00000312280	ensembl	human	known	70_37	missense	SNP	1.000	C
PMPCA	23203	genome.wustl.edu	37	9	139310756	139310756	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:139310756G>C	ENST00000371717.3	+	6	555	c.546G>C	c.(544-546)gaG>gaC	p.E182D	PMPCA_ENST00000371720.1_3'UTR|PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.E51D	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	182					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AAGAAGTCGAGATGACGCGGA	0.547																																																	0													107.0	97.0	100.0					9																	139310756		2203	4300	6503	SO:0001583	missense	23203			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.546G>C	9.37:g.139310756G>C	ENSP00000360782:p.Glu182Asp		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.E182D	ENST00000371717.3	37	c.546	CCDS35180.1	9	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818090	0.32145	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.35421	2.19;1.31	5.34	2.39	0.29439	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.050108	0.85682	N	0.000000	T	0.29914	0.0748	L	0.41027	1.25	0.58432	D	0.999997	B;B;B;B	0.26512	0.151;0.022;0.051;0.051	B;B;B;B	0.33690	0.168;0.06;0.077;0.077	T	0.08785	-1.0705	10	0.44086	T	0.13	.	8.4651	0.32951	0.148:0.1296:0.7224:0.0	.	51;182;182;182	B4DKL3;B4DRK5;Q5SXM9;Q10713	.;.;.;MPPA_HUMAN	D	182;51	ENSP00000360782:E182D;ENSP00000416702:E51D	ENSP00000360782:E182D	E	+	3	2	PMPCA	138430577	1.000000	0.71417	0.756000	0.31282	0.154000	0.21943	1.401000	0.34589	0.706000	0.31912	0.655000	0.94253	GAG	PMPCA	-	pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd		0.547	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	G	NM_015160		139310756	+1	no_errors	ENST00000371717	ensembl	human	known	70_37	missense	SNP	1.000	C
PMS2P3	5387	genome.wustl.edu	37	7	75157021	75157021	+	RNA	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:75157021G>A	ENST00000418756.1	-	0	432					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						TTCTGCTCCCGAGGGGCCCGG	0.731																																					NSCLC(70;602 1339 5301 18528 38453)												0													6.0	7.0	7.0					7																	75157021		855	1936	2791			5387			D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75157021G>A			A6NG70|Q3MJ29	RNA	SNP	-	NULL	ENST00000418756.1	37	NULL		7																																																																																			PMS2P3	-	-		0.731	PMS2P3-002	KNOWN	basic	processed_transcript	PMS2P3	HGNC	pseudogene	OTTHUMT00000342862.2	G	NR_028059		75157021	-1	no_errors	ENST00000394921	ensembl	human	known	70_37	rna	SNP	0.006	A
PNN	5411	genome.wustl.edu	37	14	39648436	39648436	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:39648436G>C	ENST00000216832.4	+	7	707	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	PNN_ENST00000553331.1_3'UTR|PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	214	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		ACAGAAAGTTGAGCTTGCGCA	0.418																																																	0													124.0	129.0	127.0					14																	39648436		2203	4300	6503	SO:0001583	missense	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.640G>C	14.37:g.39648436G>C	ENSP00000216832:p.Glu214Gln		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA	p.E214Q	ENST00000216832.4	37	c.640	CCDS9671.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.105486	0.94245	.	.	ENSG00000100941	ENST00000216832	T	0.38240	1.15	5.97	5.97	0.96955	Pinin/SDK/MemA protein (1);	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69483	-0.5133	10	0.62326	D	0.03	-11.9836	20.4238	0.99064	0.0:0.0:1.0:0.0	.	214	Q9H307	PININ_HUMAN	Q	214	ENSP00000216832:E214Q	ENSP00000216832:E214Q	E	+	1	0	PNN	38718187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.780000	0.85658	2.834000	0.97654	0.650000	0.86243	GAG	PNN	-	pfam_Pinin_SDK_MemA		0.418	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	HGNC	protein_coding	OTTHUMT00000276776.2	G	NM_002687		39648436	+1	no_errors	ENST00000216832	ensembl	human	known	70_37	missense	SNP	1.000	C
POLA2	23649	genome.wustl.edu	37	11	65064746	65064746	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:65064746C>G	ENST00000265465.3	+	0	2334				POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TCTGAGGCTTCTGTCCTCTGC	0.582																																																	0													51.0	55.0	54.0					11																	65064746		2201	4297	6498	SO:0001624	3_prime_UTR_variant	23649			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.*6C>G	11.37:g.65064746C>G			B4DNB4|Q9BPV3	RNA	SNP	-	NULL	ENST00000265465.3	37	NULL	CCDS8098.1	11																																																																																			POLA2	-	-		0.582	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	C	NM_002689		65064746	+1	no_errors	ENST00000534785	ensembl	human	known	70_37	rna	SNP	0.000	G
POM121L9P	29774	genome.wustl.edu	37	22	24656996	24656996	+	RNA	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:24656996C>G	ENST00000414583.2	+	0	2069					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CAAGCTGACTCCAGCCTTGGT	0.622																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24656996C>G				RNA	SNP	-	NULL	ENST00000414583.2	37	NULL		22																																																																																			POM121L9P	-	-		0.622	POM121L9P-001	KNOWN	basic	processed_transcript	POM121L9P	HGNC	pseudogene	OTTHUMT00000319991.1	C	NM_014549		24656996	+1	no_errors	ENST00000414583	ensembl	human	known	70_37	rna	SNP	0.008	G
POLR2F	5435	genome.wustl.edu	37	22	38349778	38349778	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:38349778G>A	ENST00000442738.2	+	0	109				POLR2F_ENST00000405557.1_De_novo_Start_OutOfFrame|C22orf23_ENST00000249079.2_5'Flank|POLR2F_ENST00000488684.1_De_novo_Start_OutOfFrame|POLR2F_ENST00000407936.1_De_novo_Start_OutOfFrame|POLR2F_ENST00000460648.1_De_novo_Start_OutOfFrame|C22orf23_ENST00000403026.1_5'Flank|RP5-1039K5.17_ENST00000609976.1_RNA|POLR2F_ENST00000470701.1_De_novo_Start_InFrame|C22orf23_ENST00000403305.1_5'Flank|POLR2F_ENST00000606538.1_De_novo_Start_OutOfFrame	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CAGCGGGGTCGCTGAGGCGAG	0.662																																																	0													42.0	34.0	37.0					22																	38349778		2203	4300	6503			5435				CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.-17G>A	22.37:g.38349778G>A			P41584|Q6IAY3	RNA	SNP	-	NULL	ENST00000442738.2	37	NULL	CCDS13963.1	22																																																																																			POLR2F	-	-		0.662	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2F	HGNC	protein_coding	OTTHUMT00000321570.1	G	NM_021974		38349778	+1	no_errors	ENST00000492213	ensembl	human	known	70_37	rna	SNP	0.000	A
POMT1	10585	genome.wustl.edu	37	9	134379625	134379625	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:134379625G>A	ENST00000372228.3	+	2	199	c.20G>A	c.(19-21)cGc>cAc	p.R7H	POMT1_ENST00000404875.2_Intron|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000354713.4_Missense_Mutation_p.R7H|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000423007.1_Missense_Mutation_p.R7H|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000402686.3_Missense_Mutation_p.R7H	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	7					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTTTTGAAGCGCCCTGTAGTG	0.592											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													173.0	146.0	155.0					9																	134379625		2203	4300	6503	SO:0001583	missense	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.20G>A	9.37:g.134379625G>A	ENSP00000361302:p.Arg7His	1610	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	p.R7H	ENST00000372228.3	37	c.20	CCDS6943.1	9	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378120	0.24944	.	.	ENSG00000130714	ENST00000423007;ENST00000372228;ENST00000402686;ENST00000354713;ENST00000418774	D;D;D;D;T	0.82984	-1.62;-1.62;-1.62;-1.67;-1.11	5.02	1.01	0.19927	.	0.979343	0.08396	N	0.952255	T	0.74543	0.3730	L	0.42245	1.32	0.21878	N	0.999491	B;B;B;B	0.16166	0.016;0.006;0.003;0.006	B;B;B;B	0.09377	0.002;0.002;0.001;0.004	T	0.58983	-0.7539	10	0.45353	T	0.12	-19.7855	5.2219	0.15373	0.4532:0.1446:0.4021:0.0	.	7;7;7;7	B4DTW4;B4DWD8;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	H	7	ENSP00000404119:R7H;ENSP00000361302:R7H;ENSP00000385797:R7H;ENSP00000346748:R7H;ENSP00000390737:R7H	ENSP00000346748:R7H	R	+	2	0	POMT1	133369446	0.504000	0.26123	0.411000	0.26484	0.401000	0.30781	0.894000	0.28350	-0.089000	0.12484	-0.140000	0.14226	CGC	POMT1	-	NULL		0.592	POMT1-001	KNOWN	basic|CCDS	protein_coding	POMT1	HGNC	protein_coding	OTTHUMT00000054737.1	G	NM_007171		134379625	+1	no_errors	ENST00000372228	ensembl	human	known	70_37	missense	SNP	0.182	A
POU2F2	5452	genome.wustl.edu	37	19	42595860	42595860	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:42595860C>G	ENST00000526816.2	-	14	1416				POU2F2_ENST00000389341.5_Intron|POU2F2_ENST00000560398.1_Intron|POU2F2_ENST00000533720.1_Intron|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000342301.4_Intron|POU2F2_ENST00000529067.1_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TGACCCCCATCAGCACCCCTC	0.632																																																	0																																										SO:0001627	intron_variant	5452				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1401-117G>C	19.37:g.42595860C>G			Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.D539H	ENST00000526816.2	37	c.1615	CCDS56095.1	19																																																																																			POU2F2	-	NULL		0.632	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	C			42595860	-1	no_errors	ENST00000560804	ensembl	human	putative	70_37	missense	SNP	0.069	G
PPID	5481	genome.wustl.edu	37	4	159631994	159631994	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:159631994C>G	ENST00000307720.3	-	8	1008	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	301	Interaction with HSP90AB1. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GGGTCTAGTTCAAGAGCCTAC	0.348																																																	0													114.0	123.0	120.0					4																	159631994		2202	4300	6502	SO:0001583	missense	5481				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.901G>C	4.37:g.159631994C>G	ENSP00000303754:p.Glu301Gln		B2R9V2	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E301Q	ENST00000307720.3	37	c.901	CCDS3801.1	4	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290779	0.40494	.	.	ENSG00000171497	ENST00000307720	T	0.60299	0.2	5.44	4.6	0.57074	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.379293	0.18688	N	0.133958	T	0.46870	0.1415	L	0.41027	1.25	0.43919	D	0.996565	B	0.25169	0.119	B	0.26517	0.07	T	0.39742	-0.9599	10	0.33141	T	0.24	-40.7041	9.2589	0.37601	0.0:0.7403:0.1226:0.1371	.	301	Q08752	PPID_HUMAN	Q	301	ENSP00000303754:E301Q	ENSP00000303754:E301Q	E	-	1	0	PPID	159851444	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.500000	0.45381	1.633000	0.50488	0.650000	0.86243	GAA	PPID	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.348	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPID	HGNC	protein_coding	OTTHUMT00000366436.1	C	NM_005038		159631994	-1	no_errors	ENST00000307720	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R10	5514	genome.wustl.edu	37	6	30571789	30571789	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30571789C>T	ENST00000376511.2	-	14	2056	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	502	Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCTCACCTCTCCTTGTTCAGG	0.542																																																	0													103.0	114.0	110.0					6																	30571789		2203	4300	6503	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1504G>A	6.37:g.30571789C>T	ENSP00000365694:p.Glu502Lys		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.E502K	ENST00000376511.2	37	c.1504	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912455	0.72983	.	.	ENSG00000204569	ENST00000376511	T	0.59224	0.28	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	L	0.53249	1.67	0.58432	D	0.999995	D	0.63880	0.993	D	0.72625	0.978	T	0.69785	-0.5051	10	0.72032	D	0.01	.	16.5979	0.84801	0.0:1.0:0.0:0.0	.	502	Q96QC0	PP1RA_HUMAN	K	502	ENSP00000365694:E502K	ENSP00000365694:E502K	E	-	1	0	PPP1R10	30679768	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.871000	0.75531	2.427000	0.82271	0.467000	0.42956	GAG	PPP1R10	-	NULL		0.542	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	C	NM_002714		30571789	-1	no_errors	ENST00000376511	ensembl	human	known	70_37	missense	SNP	1.000	T
PPP1R10	5514	genome.wustl.edu	37	6	30571825	30571825	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30571825C>G	ENST00000376511.2	-	14	2020	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	490	Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ATTCCCTTCTCCCGCTCAGCC	0.592																																																	0													100.0	111.0	107.0					6																	30571825		2203	4300	6503	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1468G>C	6.37:g.30571825C>G	ENSP00000365694:p.Glu490Gln		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.E490Q	ENST00000376511.2	37	c.1468	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466310	0.43839	.	.	ENSG00000204569	ENST00000376511	T	0.37584	1.19	4.71	4.71	0.59529	.	0.050925	0.85682	D	0.000000	T	0.36744	0.0978	M	0.62723	1.935	0.58432	D	0.999997	D	0.55172	0.97	P	0.49140	0.601	T	0.38457	-0.9660	10	0.87932	D	0	-22.7957	16.5979	0.84801	0.0:1.0:0.0:0.0	.	490	Q96QC0	PP1RA_HUMAN	Q	490	ENSP00000365694:E490Q	ENSP00000365694:E490Q	E	-	1	0	PPP1R10	30679804	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.871000	0.75531	2.427000	0.82271	0.467000	0.42956	GAG	PPP1R10	-	NULL		0.592	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	C	NM_002714		30571825	-1	no_errors	ENST00000376511	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R10	5514	genome.wustl.edu	37	6	30573986	30573986	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30573986C>T	ENST00000376511.2	-	9	1221	c.669G>A	c.(667-669)gtG>gtA	p.V223V		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	223	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CATTCTTCTTCACAGGCACCA	0.522																																																	0													119.0	104.0	109.0					6																	30573986		1511	2709	4220	SO:0001819	synonymous_variant	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.669G>A	6.37:g.30573986C>T			O00405	Silent	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.V223	ENST00000376511.2	37	c.669	CCDS4681.1	6																																																																																			PPP1R10	-	NULL		0.522	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	C	NM_002714		30573986	-1	no_errors	ENST00000376511	ensembl	human	known	70_37	silent	SNP	0.999	T
PPP1R10	5514	genome.wustl.edu	37	6	30576637	30576637	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:30576637C>G	ENST00000376511.2	-	5	801	c.249G>C	c.(247-249)aaG>aaC	p.K83N	PPP1R10_ENST00000484449.1_5'Flank	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	83	Interaction with TOX4. {ECO:0000250}.|TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGTTGGTTGTCTTTGAATACG	0.453																																																	0													151.0	144.0	147.0					6																	30576637		2203	4300	6503	SO:0001583	missense	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.249G>C	6.37:g.30576637C>G	ENSP00000365694:p.Lys83Asn		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.K83N	ENST00000376511.2	37	c.249	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	16.25	3.068999	0.55539	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.51817	0.69	6.17	6.17	0.99709	Transcription factor IIS, N-terminal (3);Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type (1);	0.046995	0.85682	D	0.000000	T	0.48909	0.1526	L	0.46157	1.445	0.44611	D	0.997589	D	0.71674	0.998	P	0.59761	0.863	T	0.45175	-0.9279	10	0.51188	T	0.08	-19.0413	13.5813	0.61905	0.0:0.9262:0.0:0.0738	.	83	Q96QC0	PP1RA_HUMAN	N	83	ENSP00000365694:K83N	ENSP00000365694:K83N	K	-	3	2	PPP1R10	30684616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.534000	0.36051	2.941000	0.99782	0.655000	0.94253	AAG	PPP1R10	-	superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub		0.453	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	C	NM_002714		30576637	-1	no_errors	ENST00000376511	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R12A	4659	genome.wustl.edu	37	12	80191034	80191034	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:80191034C>G	ENST00000450142.2	-	16	2499	c.2233G>C	c.(2233-2235)Gag>Cag	p.E745Q	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E745Q|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E658Q|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E745Q|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E689Q	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	745	Glu/Lys-rich.|Interaction with ROCK2.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GTTTCTGActccttcttttct	0.333																																																	0													239.0	204.0	215.0					12																	80191034		1847	4087	5934	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2233G>C	12.37:g.80191034C>G	ENSP00000389168:p.Glu745Gln		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E745Q	ENST00000450142.2	37	c.2233	CCDS44947.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.35|18.35	3.604025|3.604025	0.66445|0.66445	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330|ENST00000553081	T;T;T;T;T;T|.	0.47177|.	1.19;1.19;1.23;1.21;1.15;0.85|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.131590|.	0.49916|.	D|.	0.000130|.	T|T	0.70640|0.70640	0.3247|0.3247	L|L	0.50333|0.50333	1.59|1.59	0.50632|0.50632	D|D	0.999881|0.999881	P;D;P;P|.	0.54964|.	0.939;0.969;0.939;0.948|.	P;P;P;P|.	0.55824|.	0.528;0.785;0.662;0.614|.	T|T	0.66456|0.66456	-0.5919|-0.5919	10|5	0.21014|.	T|.	0.42|.	.|.	19.2166|19.2166	0.93781|0.93781	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	686;745;689;745|.	F8W8Q6;O14974-2;O14974-3;O14974|.	.;.;.;MYPT1_HUMAN|.	Q|S	745;745;745;689;686;745;745;658;689;686|336	ENSP00000261207:E745Q;ENSP00000389168:E745Q;ENSP00000416769:E745Q;ENSP00000449514:E658Q;ENSP00000446855:E689Q;ENSP00000446816:E686Q|.	ENSP00000261207:E745Q|.	E|R	-|-	1|3	0|2	PPP1R12A|PPP1R12A	78715165|78715165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.501000|5.501000	0.66950|0.66950	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GAG|AGG	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.333	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	C	NM_002480		80191034	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R3A	5506	genome.wustl.edu	37	7	113517963	113517963	+	Missense_Mutation	SNP	G	G	C	rs199888601		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:113517963G>C	ENST00000284601.3	-	4	3252	c.3184C>G	c.(3184-3186)Caa>Gaa	p.Q1062E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1062					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCGTTGCCTTGAGCTTGACTT	0.353																																																	0													158.0	157.0	157.0					7																	113517963		2203	4299	6502	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3184C>G	7.37:g.113517963G>C	ENSP00000284601:p.Gln1062Glu		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.Q1062E	ENST00000284601.3	37	c.3184	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	7.840	0.721756	0.15372	.	.	ENSG00000154415	ENST00000284601	T	0.17054	2.3	5.85	2.99	0.34606	.	0.860919	0.10269	N	0.694979	T	0.15219	0.0367	L	0.41824	1.3	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.22173	-1.0224	10	0.66056	D	0.02	-0.3068	8.2116	0.31486	0.1273:0.266:0.6067:0.0	.	1062	Q16821	PPR3A_HUMAN	E	1062	ENSP00000284601:Q1062E	ENSP00000284601:Q1062E	Q	-	1	0	PPP1R3A	113305199	0.036000	0.19791	0.881000	0.34555	0.906000	0.53458	0.733000	0.26087	0.751000	0.32900	0.650000	0.86243	CAA	PPP1R3A	-	NULL		0.353	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	G	NM_002711		113517963	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	missense	SNP	0.001	C
PPP1R9A	55607	genome.wustl.edu	37	7	94855369	94855369	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:94855369G>A	ENST00000433881.1	+	7	2519	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E663K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E663K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E663K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E663K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E685K			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	663	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCCTGAGAATGAGGACATGTT	0.463										HNSCC(28;0.073)																																							0													134.0	106.0	115.0					7																	94855369		2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1987G>A	7.37:g.94855369G>A	ENSP00000398870:p.Glu663Lys		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.E663K	ENST00000433881.1	37	c.1987	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305129	0.81247	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.21191	2.02;2.08;2.15;2.08;2.05;2.15	5.12	5.12	0.69794	.	0.049298	0.85682	D	0.000000	T	0.41488	0.1161	M	0.61703	1.905	0.54753	D	0.999984	P;P;P;P;D	0.54601	0.774;0.951;0.917;0.952;0.967	B;P;P;P;P	0.57548	0.345;0.823;0.713;0.452;0.546	T	0.19257	-1.0311	10	0.72032	D	0.01	.	19.1381	0.93436	0.0:0.0:1.0:0.0	.	663;663;685;663;663	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	685;663;663;663;663;663	ENSP00000405514:E685K;ENSP00000344524:E663K;ENSP00000411342:E663K;ENSP00000398870:E663K;ENSP00000289495:E663K;ENSP00000402893:E663K	ENSP00000289495:E663K	E	+	1	0	PPP1R9A	94693305	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	5.714000	0.68422	2.836000	0.97738	0.655000	0.94253	GAG	PPP1R9A	-	NULL		0.463	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	G	NM_001166160		94855369	+1	no_errors	ENST00000289495	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP1R3A	5506	genome.wustl.edu	37	7	113518481	113518481	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:113518481G>A	ENST00000284601.3	-	4	2734	c.2666C>T	c.(2665-2667)tCa>tTa	p.S889L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	889					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGTTTTCTTTGATAATTCTTG	0.368																																																	0													86.0	82.0	83.0					7																	113518481		2202	4299	6501	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2666C>T	7.37:g.113518481G>A	ENSP00000284601:p.Ser889Leu		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S889L	ENST00000284601.3	37	c.2666	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	6.287	0.421052	0.11928	.	.	ENSG00000154415	ENST00000284601	T	0.19394	2.15	5.81	5.81	0.92471	.	0.731815	0.12230	N	0.487536	T	0.27278	0.0669	M	0.67953	2.075	0.20196	N	0.999926	B	0.19073	0.033	B	0.13407	0.009	T	0.10613	-1.0622	10	0.87932	D	0	-1.7284	12.6665	0.56846	0.0:0.0:0.8245:0.1755	.	889	Q16821	PPR3A_HUMAN	L	889	ENSP00000284601:S889L	ENSP00000284601:S889L	S	-	2	0	PPP1R3A	113305717	0.867000	0.29959	0.989000	0.46669	0.138000	0.21146	1.224000	0.32539	2.730000	0.93505	0.650000	0.86243	TCA	PPP1R3A	-	NULL		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	G	NM_002711		113518481	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	missense	SNP	0.477	A
PPP2R2A	5520	genome.wustl.edu	37	8	26217714	26217714	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:26217714G>A	ENST00000380737.3	+	5	705	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.E136K	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	126					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GAAAATCAGTGAAAGGGACAA	0.313																																																	0													83.0	86.0	85.0					8																	26217714		2203	4299	6502	SO:0001583	missense	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.376G>A	8.37:g.26217714G>A	ENSP00000370113:p.Glu126Lys		B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.E126K	ENST00000380737.3	37	c.376	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.949061	0.97134	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.42900	0.97;0.96	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.70736	0.3258	M	0.88241	2.94	0.80722	D	1	P;P	0.51791	0.948;0.934	D;P	0.65573	0.936;0.835	T	0.76801	-0.2825	10	0.87932	D	0	-17.8353	19.0947	0.93246	0.0:0.0:1.0:0.0	.	136;126	B4E1T7;P63151	.;2ABA_HUMAN	K	126;136	ENSP00000370113:E126K;ENSP00000325074:E136K	ENSP00000325074:E136K	E	+	1	0	PPP2R2A	26273631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.623000	0.98386	2.593000	0.87608	0.585000	0.79938	GAA	PPP2R2A	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55		0.313	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	HGNC	protein_coding	OTTHUMT00000375954.2	G	NM_002717		26217714	+1	no_errors	ENST00000380737	ensembl	human	known	70_37	missense	SNP	1.000	A
PRDM4	11108	genome.wustl.edu	37	12	108128300	108128300	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:108128300C>G	ENST00000228437.5	-	12	2553		c.e12-1		RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4						cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CTGGCGTTCTCTAAGAGGAAC	0.403																																																	0													114.0	115.0	114.0					12																	108128300		2203	4300	6503	SO:0001630	splice_region_variant	11108			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2094-1G>C	12.37:g.108128300C>G			Q9UFA6	Splice_Site	SNP	-	e11-1	ENST00000228437.5	37	c.2094-1	CCDS9115.1	12	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698052	0.88830	.	.	ENSG00000110851	ENST00000228437	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5596	0.99324	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRDM4	106652430	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.868000	0.98415	0.555000	0.69702	.	PRDM4	-	-		0.403	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM4	HGNC	protein_coding	OTTHUMT00000406546.1	C	NM_012406	Intron	108128300	-1	no_errors	ENST00000228437	ensembl	human	known	70_37	splice_site	SNP	1.000	G
PREX2	80243	genome.wustl.edu	37	8	68995620	68995620	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:68995620G>A	ENST00000288368.4	+	18	2301	c.2024G>A	c.(2023-2025)aGa>aAa	p.R675K	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	675					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACAAAGCCAAGAGAGTAAGTT	0.323																																																	0													85.0	83.0	84.0					8																	68995620		2203	4300	6503	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2024G>A	8.37:g.68995620G>A	ENSP00000288368:p.Arg675Lys		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R675K	ENST00000288368.4	37	c.2024	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980881	0.18812	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.58940	0.3	5.77	5.77	0.91146	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	N	0.17474	0.49	0.80722	D	1	B;B;B	0.17852	0.024;0.004;0.007	B;B;B	0.18263	0.021;0.002;0.004	T	0.39881	-0.9592	10	0.02654	T	1	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	675;675;675	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	K	675	ENSP00000288368:R675K	ENSP00000288368:R675K	R	+	2	0	PREX2	69158174	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	9.374000	0.97172	2.885000	0.99019	0.655000	0.94253	AGA	PREX2	-	superfamily_PDZ		0.323	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	G	NM_025170		68995620	+1	no_errors	ENST00000288368	ensembl	human	known	70_37	missense	SNP	1.000	A
PRKAA2	5563	genome.wustl.edu	37	1	57161821	57161821	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:57161821C>G	ENST00000371244.4	+	6	843	c.777C>G	c.(775-777)atC>atG	p.I259M		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GAGCAACTATCAAAGACATAA	0.388																																																	0													138.0	139.0	139.0					1																	57161821		2203	4300	6503	SO:0001583	missense	5563			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.777C>G	1.37:g.57161821C>G	ENSP00000360290:p.Ile259Met		Q9H1E8|Q9UD43	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I259M	ENST00000371244.4	37	c.777	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554610	0.65425	.	.	ENSG00000162409	ENST00000371244	T	0.67698	-0.28	5.98	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	L	0.31752	0.955	0.80722	D	1	P	0.36495	0.556	P	0.50590	0.645	T	0.68671	-0.5347	10	0.59425	D	0.04	-14.2246	10.6125	0.45429	0.1329:0.799:0.0:0.0681	.	259	P54646	AAPK2_HUMAN	M	259	ENSP00000360290:I259M	ENSP00000360290:I259M	I	+	3	3	PRKAA2	56934409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.866000	0.48420	1.542000	0.49330	0.655000	0.94253	ATC	PRKAA2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.388	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	HGNC	protein_coding	OTTHUMT00000022753.2	C	NM_006252		57161821	+1	no_errors	ENST00000371244	ensembl	human	known	70_37	missense	SNP	1.000	G
PRKCE	5581	genome.wustl.edu	37	2	46378297	46378297	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:46378297G>A	ENST00000306156.3	+	13	2176	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	617	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CGACCTATTTGAGTCCATCCT	0.587																																																	0													81.0	76.0	78.0					2																	46378297		2061	4070	6131	SO:0001583	missense	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1849G>A	2.37:g.46378297G>A	ENSP00000306124:p.Glu617Lys		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E617K	ENST00000306156.3	37	c.1849	CCDS1824.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.837287	0.97009	.	.	ENSG00000171132	ENST00000306156	T	0.52754	0.65	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	N	0.20530	0.585	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.60078	-0.7333	10	0.62326	D	0.03	.	19.3311	0.94288	0.0:0.0:1.0:0.0	.	617	Q02156	KPCE_HUMAN	K	617	ENSP00000306124:E617K	ENSP00000306124:E617K	E	+	1	0	PRKCE	46231801	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.657000	0.98554	2.813000	0.96785	0.655000	0.94253	GAG	PRKCE	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom		0.587	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	G			46378297	+1	no_errors	ENST00000306156	ensembl	human	known	70_37	missense	SNP	1.000	A
PRKCZ	5590	genome.wustl.edu	37	1	2116133	2116133	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:2116133G>A	ENST00000400921.2	+	14	1821	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	C1orf86_ENST00000400919.3_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.D380N|PRKCZ_ENST00000479263.1_3'UTR|RP11-181G12.2_ENST00000333854.2_RNA|RP11-181G12.2_ENST00000444529.1_RNA|RP11-181G12.2_ENST00000536678.1_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	GACCCCAGACGATGAGTGAGT	0.652																																																	0													42.0	39.0	40.0					1																	2116133		2203	4299	6502	SO:0001583	missense	5590			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.1138G>A	1.37:g.2116133G>A	ENSP00000383712:p.Asp380Asn		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.D563N	ENST00000400921.2	37	c.1687	CCDS41229.1	1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058944	0.55325	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.47	5.47	0.80525	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	L	0.53780	1.695	0.80722	D	1	B;P;B;B	0.35575	0.313;0.51;0.313;0.313	B;B;B;B	0.27380	0.069;0.044;0.069;0.079	T	0.59679	-0.7409	10	0.44086	T	0.13	.	18.2868	0.90117	0.0:0.0:1.0:0.0	.	459;387;459;563	E9PCW2;B3KUN5;B7Z2J7;Q05513	.;.;.;KPCZ_HUMAN	N	563;380;459;380	ENSP00000367830:D563N;ENSP00000383712:D380N;ENSP00000426412:D459N;ENSP00000383711:D380N	ENSP00000367830:D563N	D	+	1	0	PRKCZ	2105993	1.000000	0.71417	0.662000	0.29724	0.165000	0.22458	9.090000	0.94144	2.556000	0.86216	0.491000	0.48974	GAT	PRKCZ	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_PKC_zeta		0.652	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	PRKCZ	HGNC	protein_coding	OTTHUMT00000098533.3	G	NM_002744		2116133	+1	no_errors	ENST00000378567	ensembl	human	known	70_37	missense	SNP	1.000	A
PRKD3	23683	genome.wustl.edu	37	2	37543598	37543598	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:37543598G>A	ENST00000379066.1	-	2	832	c.70C>T	c.(70-72)Cca>Tca	p.P24S	PRKD3_ENST00000234179.2_Missense_Mutation_p.P24S|PRKD3_ENST00000477132.1_5'Flank			O94806	KPCD3_HUMAN	protein kinase D3	24					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GAAGCAGCTGGAAGCACAGCA	0.473																																					Melanoma(80;621 1355 8613 11814 51767)												0													82.0	79.0	80.0					2																	37543598		2203	4300	6503	SO:0001583	missense	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.70C>T	2.37:g.37543598G>A	ENSP00000368356:p.Pro24Ser		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.P24S	ENST00000379066.1	37	c.70	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965140	0.53507	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.64438	-0.1;-0.1	5.67	4.76	0.60689	.	0.200372	0.44285	D	0.000468	T	0.59018	0.2163	L	0.61218	1.895	0.43199	D	0.995046	B;B	0.30634	0.288;0.084	B;B	0.33690	0.168;0.051	T	0.54234	-0.8324	10	0.13470	T	0.59	-11.4051	15.0832	0.72130	0.0:0.1403:0.8597:0.0	.	24;24	O94806-2;O94806	.;KPCD3_HUMAN	S	24	ENSP00000368356:P24S;ENSP00000234179:P24S	ENSP00000234179:P24S	P	-	1	0	PRKD3	37397102	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	3.509000	0.53386	2.665000	0.90641	0.591000	0.81541	CCA	PRKD3	-	NULL		0.473	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	HGNC	protein_coding	OTTHUMT00000218570.3	G	NM_005813		37543598	-1	no_errors	ENST00000234179	ensembl	human	known	70_37	missense	SNP	1.000	A
PRKDC	5591	genome.wustl.edu	37	8	48701765	48701765	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:48701765G>C	ENST00000314191.2	-	76	10758	c.10702C>G	c.(10702-10704)Caa>Gaa	p.Q3568E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q3568E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3569					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAAAATCTTGAATCACTCCT	0.294								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													66.0	61.0	63.0					8																	48701765		1797	4063	5860	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10702C>G	8.37:g.48701765G>C	ENSP00000313420:p.Gln3568Glu		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q3568E	ENST00000314191.2	37	c.10702		8	.	.	.	.	.	.	.	.	.	.	G	6.708	0.499300	0.12762	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02050	4.54;4.48	5.72	4.84	0.62591	.	0.114208	0.64402	D	0.000011	T	0.03178	0.0093	L	0.49640	1.575	0.45791	D	0.998678	B;B	0.14805	0.011;0.011	B;B	0.12837	0.008;0.007	T	0.38672	-0.9650	10	0.09590	T	0.72	.	15.8254	0.78703	0.0:0.136:0.864:0.0	.	3568;3569	E7EUY0;P78527	.;PRKDC_HUMAN	E	3568	ENSP00000313420:Q3568E;ENSP00000345182:Q3568E	ENSP00000313420:Q3568E	Q	-	1	0	PRKDC	48864318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.631000	0.54280	1.411000	0.46957	0.655000	0.94253	CAA	PRKDC	-	NULL		0.294	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48701765	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C
PRMT9	90826	genome.wustl.edu	37	4	148605133	148605133	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:148605133C>T	ENST00000322396.6	-	1	248	c.6G>A	c.(4-6)tcG>tcA	p.S2S	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		2						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GCCGCGAGTTCGACATGGCAG	0.597																																																	0													14.0	16.0	15.0					4																	148605133		2197	4277	6474	SO:0001819	synonymous_variant	90826																														ENST00000322396.6:c.6G>A	4.37:g.148605133C>T			A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S2	ENST00000322396.6	37	c.6	CCDS3771.1	4																																																																																			PRMT10	-	NULL		0.597	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	C			148605133	-1	no_errors	ENST00000322396	ensembl	human	known	70_37	silent	SNP	0.714	T
PRND	23627	genome.wustl.edu	37	20	4705251	4705251	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:4705251C>T	ENST00000305817.2	+	2	125	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	18					protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						TGCTGCTCTTCAGCCACCTCT	0.627																																																	0													61.0	56.0	58.0					20																	4705251		2203	4300	6503	SO:0001819	synonymous_variant	23627			AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.54C>T	20.37:g.4705251C>T			A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom	p.F18	ENST00000305817.2	37	c.54	CCDS13081.1	20																																																																																			PRND	-	pfam_Doppel		0.627	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRND	HGNC	protein_coding	OTTHUMT00000077827.2	C	NM_012409		4705251	+1	no_errors	ENST00000305817	ensembl	human	known	70_37	silent	SNP	0.000	T
PRPF8	10594	genome.wustl.edu	37	17	1554817	1554817	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:1554817G>C	ENST00000572621.1	-	40	6806	c.6541C>G	c.(6541-6543)Cag>Gag	p.Q2181E	PRPF8_ENST00000304992.6_Missense_Mutation_p.Q2181E|PRPF8_ENST00000575116.1_5'Flank|RILP_ENST00000301336.6_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2181	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCATTGGGCTGAGTGTGGATC	0.512																																																	0													122.0	113.0	116.0					17																	1554817		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6541C>G	17.37:g.1554817G>C	ENSP00000460348:p.Gln2181Glu		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.Q2181E	ENST00000572621.1	37	c.6541	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408968	0.83340	.	.	ENSG00000174231	ENST00000304992	T	0.62941	-0.01	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	H	0.94582	3.555	0.80722	D	1	D	0.53745	0.962	P	0.56088	0.791	D	0.86226	0.1634	10	0.49607	T	0.09	.	19.6035	0.95573	0.0:0.0:1.0:0.0	.	2181	Q6P2Q9	PRP8_HUMAN	E	2181	ENSP00000304350:Q2181E	ENSP00000304350:Q2181E	Q	-	1	0	PRPF8	1501567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.505000	0.97989	2.626000	0.88956	0.655000	0.94253	CAG	PRPF8	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1554817	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	missense	SNP	1.000	C
PRPF8	10594	genome.wustl.edu	37	17	1554945	1554945	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:1554945G>C	ENST00000572621.1	-	39	6772	c.6507C>G	c.(6505-6507)ctC>ctG	p.L2169L	PRPF8_ENST00000304992.6_Silent_p.L2169L|PRPF8_ENST00000575116.1_5'Flank|RILP_ENST00000301336.6_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2169	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCATTACCTTGAGGTACTCAT	0.577																																																	0													121.0	125.0	124.0					17																	1554945		2203	4300	6503	SO:0001819	synonymous_variant	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6507C>G	17.37:g.1554945G>C			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.L2169	ENST00000572621.1	37	c.6507	CCDS11010.1	17																																																																																			PRPF8	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.577	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1554945	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	silent	SNP	1.000	C
PRR21	643905	genome.wustl.edu	37	2	240982052	240982052	+	Silent	SNP	C	C	G	rs77588089		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:240982052C>G	ENST00000408934.1	-	1	347	c.348G>C	c.(346-348)tcG>tcC	p.S116S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	116	Pro-rich.							p.S116S(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GAGGCATGGACGAAGGGCCGT	0.627																																																	2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)											5.0	6.0	6.0					2																	240982052		1363	2884	4247	SO:0001819	synonymous_variant	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.348G>C	2.37:g.240982052C>G				Silent	SNP	NULL	p.S116	ENST00000408934.1	37	c.348	CCDS33417.1	2																																																																																			PRR21	-	NULL		0.627	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR21	HGNC	protein_coding		C	NM_001080835		240982052	-1	no_errors	ENST00000408934	ensembl	human	known	70_37	silent	SNP	0.000	G
PRR5L	79899	genome.wustl.edu	37	11	36476993	36476993	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:36476993C>G	ENST00000378867.3	+	9	1067				PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000530639.1_Intron|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000311599.5_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like						negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CAGCAGGGCTCCTGGTGAGTG	0.582																																																	0																																										SO:0001627	intron_variant	79899				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.712+4108C>G	11.37:g.36476993C>G			A4QN22|E9PKY1|Q96H46|Q9H7V4	RNA	SNP	-	NULL	ENST00000378867.3	37	NULL	CCDS31463.1	11																																																																																			PRR5L	-	-		0.582	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	C	NM_024841		36476993	+1	no_errors	ENST00000530627	ensembl	human	known	70_37	rna	SNP	0.032	G
PRRC2A	7916	genome.wustl.edu	37	6	31603372	31603372	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:31603372C>G	ENST00000376033.2	+	24	5621	c.5387C>G	c.(5386-5388)tCa>tGa	p.S1796*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.S1796*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1796	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ATTCCTGTATCACGAGACTGG	0.607																																																	0													62.0	72.0	68.0					6																	31603372		1511	2709	4220	SO:0001587	stop_gained	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5387C>G	6.37:g.31603372C>G	ENSP00000365201:p.Ser1796*		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Nonsense_Mutation	SNP	pfam_BAT2_N	p.S1796*	ENST00000376033.2	37	c.5387	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	C	45	12.029779	0.99629	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	.	.	.	5.4	4.51	0.55191	.	0.489229	0.19347	N	0.116481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.8642	13.3639	0.60671	0.0:0.8417:0.1583:0.0	.	.	.	.	X	1790;1779;1796;1796;1021	.	ENSP00000365175:S1796X	S	+	2	0	PRRC2A	31711351	0.704000	0.27836	0.707000	0.30419	0.395000	0.30598	2.196000	0.42686	1.476000	0.48215	0.561000	0.74099	TCA	PRRC2A	-	NULL		0.607	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	C	NM_080686		31603372	+1	no_errors	ENST00000376007	ensembl	human	known	70_37	nonsense	SNP	0.910	G
PRRT4	401399	genome.wustl.edu	37	7	127992694	127992694	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:127992694G>A	ENST00000446477.2	-	6	1229	c.916C>T	c.(916-918)Cct>Tct	p.P306S	PRRT4_ENST00000535159.1_Missense_Mutation_p.P306S|PRRT4_ENST00000435512.1_Missense_Mutation_p.P306S|PRRT4_ENST00000489835.2_Missense_Mutation_p.P306S	NM_001174164.1	NP_001167635.1	C9JH25	PRRT4_HUMAN	proline-rich transmembrane protein 4	306						integral component of membrane (GO:0016021)				endometrium(4)|prostate(1)	5						CTGGCGGGAGGAGAGAGGTCA	0.647																																																	0													154.0	188.0	178.0					7																	127992694		692	1591	2283	SO:0001583	missense	401399			BC063892	CCDS47698.1, CCDS47698.2, CCDS55160.1	7q32.1	2011-10-10			ENSG00000224940	ENSG00000224940		"""Proline-rich transmembrane proteins"""	37280	protein-coding gene	gene with protein product							Standard	NM_001114726		Approved		uc022aky.1	C9JH25	OTTHUMG00000157714	ENST00000446477.2:c.916C>T	7.37:g.127992694G>A	ENSP00000415026:p.Pro306Ser		A4D0Z9|C9JVW7	Missense_Mutation	SNP	NULL	p.P306S	ENST00000446477.2	37	c.916	CCDS55160.1	7	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.726407	0.00694	.	.	ENSG00000224940	ENST00000489835;ENST00000446477;ENST00000535159;ENST00000435512;ENST00000489517	.	.	.	4.06	-1.16	0.09678	.	.	.	.	.	T	0.15825	0.0381	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29640	-1.0005	8	0.07813	T	0.8	-12.2309	1.1851	0.01854	0.2738:0.1479:0.4266:0.1517	.	306	C9JH25	PRRT4_HUMAN	S	306	.	ENSP00000410779:P306S	P	-	1	0	PRRT4	127779930	0.646000	0.27295	0.038000	0.18304	0.151000	0.21798	1.643000	0.37217	-0.387000	0.07809	-1.547000	0.00903	CCT	PRRT4	-	NULL		0.647	PRRT4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT4	HGNC	protein_coding		G	NM_001114726		127992694	-1	no_errors	ENST00000446477	ensembl	human	known	70_37	missense	SNP	0.093	A
PRSS58	136541	genome.wustl.edu	37	7	141952378	141952378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:141952378G>A	ENST00000552471.1	-	4	809	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	PRSS58_ENST00000547058.2_Nonsense_Mutation_p.Q164*			Q8IYP2	PRS58_HUMAN	protease, serine, 58	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TCGCGACACTGAGGCTTGGAG	0.433																																																	0													160.0	147.0	151.0					7																	141952378		2203	4300	6503	SO:0001587	stop_gained	136541				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.490C>T	7.37:g.141952378G>A	ENSP00000446916:p.Gln164*		B3KVJ6|D3DXD2	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.Q164*	ENST00000552471.1	37	c.490	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123308	0.37436	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	.	.	.	4.4	-2.45	0.06481	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.2921	0.94103	0.0:0.2483:0.7517:0.0	.	.	.	.	X	164	.	ENSP00000307206:Q164X	Q	-	1	0	PRSS58	141598856	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.892000	0.04131	-0.482000	0.06782	-0.300000	0.09419	CAG	PRSS58	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.433	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	G	NM_001001317		141952378	-1	no_errors	ENST00000547058	ensembl	human	known	70_37	nonsense	SNP	0.000	A
PSMF1	9491	genome.wustl.edu	37	20	1146841	1146841	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:1146841G>C	ENST00000335877.6	+	0	2109				PSMF1_ENST00000333082.3_3'UTR|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000246015.4_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TGGCCCACCTGACCTTTGGTG	0.607																																																	0													29.0	25.0	26.0					20																	1146841		876	1991	2867	SO:0001624	3_prime_UTR_variant	9491			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.*1117G>C	20.37:g.1146841G>C			A0AVQ9|D3DVW3|Q9H4I1	RNA	SNP	-	NULL	ENST00000335877.6	37	NULL	CCDS13010.1	20																																																																																			PSMF1	-	-		0.607	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	HGNC	protein_coding	OTTHUMT00000077504.2	G	NM_178578		1146841	+1	no_errors	ENST00000484891	ensembl	human	known	70_37	rna	SNP	0.092	C
PTCH2	8643	genome.wustl.edu	37	1	45293982	45293982	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:45293982G>C	ENST00000372192.3	-	13	1825	c.1695C>G	c.(1693-1695)ctC>ctG	p.L565L	PTCH2_ENST00000447098.2_Silent_p.L565L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	565					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGAAGCAGCAGAGCACATCAA	0.627									Basal Cell Nevus syndrome																																								0													54.0	55.0	55.0					1																	45293982		2203	4300	6503	SO:0001819	synonymous_variant	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1695C>G	1.37:g.45293982G>C			O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L565	ENST00000372192.3	37	c.1695	CCDS516.1	1																																																																																			PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched		0.627	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	G	NM_003738		45293982	-1	no_errors	ENST00000372192	ensembl	human	known	70_37	silent	SNP	1.000	C
PTBP2	58155	genome.wustl.edu	37	1	97278931	97278931	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:97278931G>C	ENST00000426398.2	+	14	1609	c.1566G>C	c.(1564-1566)ctG>ctC	p.L522L	PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000394184.3_Silent_p.L539L|PTBP2_ENST00000370197.1_Silent_p.L528L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Silent_p.L523L|PTBP2_ENST00000370198.1_Silent_p.L527L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	522	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ACCATCATCTGAGAGTGTCTT	0.378																																																	0													63.0	70.0	68.0					1																	97278931		2203	4299	6502	SO:0001819	synonymous_variant	58155			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1566G>C	1.37:g.97278931G>C			Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L539	ENST00000426398.2	37	c.1617	CCDS754.1	1																																																																																			PTBP2	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.378	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1	G			97278931	+1	no_errors	ENST00000394184	ensembl	human	known	70_37	silent	SNP	1.000	C
PTCHD1	139411	genome.wustl.edu	37	X	23411482	23411482	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:23411482C>T	ENST00000379361.4	+	3	2707	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	616					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTGAGGAATTCCTTTCTGAAA	0.388																																																	0													75.0	77.0	76.0					X																	23411482		2203	4298	6501	SO:0001583	missense	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1847C>T	X.37:g.23411482C>T	ENSP00000368666:p.Ser616Phe		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.S616F	ENST00000379361.4	37	c.1847	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	C	9.978	1.227379	0.22542	.	.	ENSG00000165186	ENST00000379361	D	0.86297	-2.1	5.59	5.59	0.84812	.	0.435189	0.25025	N	0.033739	T	0.79890	0.4524	L	0.29908	0.895	0.30979	N	0.722658	B	0.15141	0.012	B	0.25759	0.063	T	0.69789	-0.5050	10	0.09084	T	0.74	.	14.1677	0.65488	0.0:0.8545:0.1455:0.0	.	616	Q96NR3	PTHD1_HUMAN	F	616	ENSP00000368666:S616F	ENSP00000368666:S616F	S	+	2	0	PTCHD1	23321403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.251000	0.43187	2.327000	0.79052	0.600000	0.82982	TCC	PTCHD1	-	pfam_Patched		0.388	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	C	NM_173495		23411482	+1	no_errors	ENST00000379361	ensembl	human	known	70_37	missense	SNP	1.000	T
PTGER4	5734	genome.wustl.edu	37	5	40681884	40681884	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:40681884C>T	ENST00000302472.3	+	2	1813	c.789C>T	c.(787-789)atC>atT	p.I263I		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	263					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCCGCCGCATCGCGGGCGCCG	0.721																																																	0													18.0	21.0	20.0					5																	40681884		2104	4036	6140	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.789C>T	5.37:g.40681884C>T			Q3MJ87	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.I263	ENST00000302472.3	37	c.789	CCDS3930.1	5																																																																																			PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.721	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40681884	+1	no_errors	ENST00000302472	ensembl	human	known	70_37	silent	SNP	0.845	T
PTPRC	5788	genome.wustl.edu	37	1	198718660	198718660	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:198718660C>G	ENST00000367376.2	+	28	3219	c.3048C>G	c.(3046-3048)atC>atG	p.I1016M	PTPRC_ENST00000348564.6_Missense_Mutation_p.I857M|PTPRC_ENST00000594404.1_Missense_Mutation_p.I855M|PTPRC_ENST00000352140.3_Missense_Mutation_p.I968M|PTPRC_ENST00000442510.2_Missense_Mutation_p.I1018M	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1016	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCAAATACATCAATGCATCTT	0.348																																																	0													94.0	88.0	90.0					1																	198718660		2203	4300	6503	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3048C>G	1.37:g.198718660C>G	ENSP00000356346:p.Ile1016Met		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.I1018M	ENST00000367376.2	37	c.3054		1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046222	0.55110	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.90844	-2.74	5.82	3.94	0.45596	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.49305	D	0.000155	D	0.96109	0.8732	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95232	0.8343	10	0.87932	D	0	.	8.6917	0.34271	0.0:0.6961:0.0:0.3039	.	857;968;1016	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	M	1018;968;1016;855	ENSP00000193532:I968M	ENSP00000306782:I855M	I	+	3	3	PTPRC	196985283	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	0.782000	0.26788	0.784000	0.33661	0.650000	0.86243	ATC	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.348	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		C			198718660	+1	no_errors	ENST00000442510	ensembl	human	known	70_37	missense	SNP	1.000	G
PUM2	23369	genome.wustl.edu	37	2	20458120	20458120	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:20458120C>G	ENST00000361078.2	-	15	2390	c.2368G>C	c.(2368-2370)Gat>Cat	p.D790H	PUM2_ENST00000403432.1_Missense_Mutation_p.D790H|PUM2_ENST00000338086.5_Missense_Mutation_p.D790H|PUM2_ENST00000319801.5_Missense_Mutation_p.D711H|PUM2_ENST00000536417.1_Missense_Mutation_p.D734H			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	790	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTTTTGATCCAGACTCCCA	0.388																																																	0													93.0	91.0	92.0					2																	20458120		2203	4300	6503	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2368G>C	2.37:g.20458120C>G	ENSP00000354370:p.Asp790His		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.D790H	ENST00000361078.2	37	c.2368		2	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041268	0.55003	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51	5.51	4.61	0.57282	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.30236	0.274;0.1;0.062;0.007	B;B;B;B	0.36418	0.214;0.224;0.04;0.026	T	0.04976	-1.0914	10	0.66056	D	0.02	-14.2281	15.8994	0.79362	0.1364:0.8636:0.0:0.0	.	734;711;790;790	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	H	790;790;711;602;790;734	ENSP00000338173:D790H;ENSP00000354370:D790H;ENSP00000326746:D711H;ENSP00000409905:D602H;ENSP00000385992:D790H;ENSP00000440093:D734H	ENSP00000326746:D711H	D	-	1	0	PUM2	20321601	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.760000	0.85248	1.408000	0.46895	0.655000	0.94253	GAT	PUM2	-	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt		0.388	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		C	NM_015317		20458120	-1	no_errors	ENST00000361078	ensembl	human	known	70_37	missense	SNP	1.000	G
PWWP2A	114825	genome.wustl.edu	37	5	159520795	159520795	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:159520795G>C	ENST00000307063.7	-	2	896	c.862C>G	c.(862-864)Cag>Gag	p.Q288E	PWWP2A_ENST00000523662.1_Missense_Mutation_p.Q288E|PWWP2A_ENST00000456329.3_Missense_Mutation_p.Q288E	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	288	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGGTGGCTGAGGTATTGAT	0.448																																																	0													178.0	168.0	171.0					5																	159520795		1878	4103	5981	SO:0001583	missense	114825				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.862C>G	5.37:g.159520795G>C	ENSP00000305151:p.Gln288Glu		G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	pfam_PWWP,smart_PWWP,pfscan_PWWP	p.Q288E	ENST00000307063.7	37	c.862	CCDS47332.1	5	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577873	0.65878	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.25749	1.78;1.78;1.78	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.61703	1.905	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.83275	0.985;0.996;0.994	T	0.43925	-0.9361	10	0.52906	T	0.07	-12.8192	19.3938	0.94596	0.0:0.0:1.0:0.0	.	288;288;288	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	E	288	ENSP00000390462:Q288E;ENSP00000428143:Q288E;ENSP00000305151:Q288E	ENSP00000305151:Q288E	Q	-	1	0	PWWP2A	159453373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.735000	0.98825	2.687000	0.91594	0.563000	0.77884	CAG	PWWP2A	-	NULL		0.448	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PWWP2A	HGNC	protein_coding	OTTHUMT00000374092.1	G			159520795	-1	no_errors	ENST00000307063	ensembl	human	known	70_37	missense	SNP	1.000	C
R3HCC1	203069	genome.wustl.edu	37	8	23148956	23148956	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:23148956G>C	ENST00000411463.1	+	6	1055	c.1055G>C	c.(1054-1056)gGa>gCa	p.G352A	R3HCC1_ENST00000265806.6_Missense_Mutation_p.G125A|R3HCC1_ENST00000518454.1_Missense_Mutation_p.G125A|R3HCC1_ENST00000522012.1_3'UTR			Q9Y3T6	R3HC1_HUMAN	R3H domain and coiled-coil containing 1	352							nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			central_nervous_system(1)|skin(2)	3						GAGCTGCCTGGAGAGAAGGAC	0.522																																																	0													124.0	112.0	116.0					8																	23148956		692	1591	2283	SO:0001583	missense	203069				CCDS47826.1	8p21.3	2012-05-23		2005-11-20	ENSG00000104679	ENSG00000104679			27329	protein-coding gene	gene with protein product						12477932	Standard	XM_005273427		Approved	DKFZp564N123	uc003xdf.3	Q9Y3T6	OTTHUMG00000163786	ENST00000411463.1:c.1055G>C	8.37:g.23148956G>C	ENSP00000397555:p.Gly352Ala		B7ZLI1	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.G352A	ENST00000411463.1	37	c.1055		8	.	.	.	.	.	.	.	.	.	.	G	7.276	0.608042	0.14002	.	.	ENSG00000104679	ENST00000518454;ENST00000265806;ENST00000411463;ENST00000519952;ENST00000520480	T;T;T;T;T	0.58358	2.07;2.07;2.07;0.34;2.07	5.78	3.95	0.45737	.	0.561546	0.19578	N	0.110930	T	0.43322	0.1242	M	0.62723	1.935	0.34084	D	0.659903	B	0.18610	0.029	B	0.17722	0.019	T	0.44817	-0.9303	10	0.18710	T	0.47	-7.4185	4.4919	0.11817	0.0822:0.1722:0.5917:0.1539	.	352	Q9Y3T6	R3HC1_HUMAN	A	125;125;352;125;47	ENSP00000430607:G125A;ENSP00000265806:G125A;ENSP00000397555:G352A;ENSP00000429417:G125A;ENSP00000430339:G47A	ENSP00000265806:G125A	G	+	2	0	R3HCC1	23204901	0.961000	0.32948	0.991000	0.47740	0.139000	0.21198	1.584000	0.36589	0.749000	0.32854	-0.309000	0.09137	GGA	R3HCC1	-	NULL		0.522	R3HCC1-201	KNOWN	basic|appris_principal	protein_coding	R3HCC1	HGNC	protein_coding		G	NM_001136108		23148956	+1	no_errors	ENST00000411463	ensembl	human	known	70_37	missense	SNP	0.982	C
RAB1B	81876	genome.wustl.edu	37	11	66039341	66039341	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:66039341G>A	ENST00000311481.6	+	2	234		c.e2+1		RAB1B_ENST00000527397.1_Splice_Site|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family						ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						GCGGTTTGCTGTGAGTAAGAA	0.552																																																	0													106.0	93.0	97.0					11																	66039341		2200	4295	6495	SO:0001630	splice_region_variant	81876			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.87+1G>A	11.37:g.66039341G>A			A8K7S1	Splice_Site	SNP	-	e2+1	ENST00000311481.6	37	c.87+1	CCDS31613.1	11	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353332	0.82132	.	.	ENSG00000174903	ENST00000311481;ENST00000527397;ENST00000314965;ENST00000394080	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0787	0.64907	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB1B	65795917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.466000	0.97665	2.194000	0.70268	0.555000	0.69702	.	RAB1B	-	-		0.552	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB1B	HGNC	protein_coding	OTTHUMT00000391886.2	G	NM_030981	Intron	66039341	+1	no_errors	ENST00000311481	ensembl	human	known	70_37	splice_site	SNP	1.000	A
RAB1B	81876	genome.wustl.edu	37	11	66039887	66039887	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:66039887C>T	ENST00000311481.6	+	4	382	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCA	0.582																																																	0													108.0	77.0	87.0					11																	66039887		2200	4295	6495	SO:0001583	missense	81876			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.235C>T	11.37:g.66039887C>T	ENSP00000310226:p.Arg79Trp		A8K7S1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R79W	ENST00000311481.6	37	c.235	CCDS31613.1	11	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820764	0.71028	.	.	ENSG00000174903	ENST00000311481;ENST00000314965;ENST00000394080	D	0.82526	-1.62	3.99	3.99	0.46301	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000008	D	0.92753	0.7696	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93326	0.6697	10	0.87932	D	0	.	8.942	0.35736	0.2217:0.7783:0.0:0.0	.	79	Q9H0U4	RAB1B_HUMAN	W	79	ENSP00000310226:R79W	ENSP00000310226:R79W	R	+	1	2	RAB1B	65796463	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.809000	0.27168	2.067000	0.61834	0.561000	0.74099	CGG	RAB1B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.582	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB1B	HGNC	protein_coding	OTTHUMT00000391886.2	C	NM_030981		66039887	+1	no_errors	ENST00000311481	ensembl	human	known	70_37	missense	SNP	1.000	T
RAB8A	4218	genome.wustl.edu	37	19	16222825	16222825	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:16222825C>G	ENST00000300935.3	+	1	387	c.114C>G	c.(112-114)atC>atG	p.I38M	RAB8A_ENST00000586682.1_Missense_Mutation_p.I38M|RAB8A_ENST00000588105.1_3'UTR	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	38					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CCACTTTTATCTCCACCATAG	0.647																																																	0													120.0	123.0	122.0					19																	16222825		2203	4300	6503	SO:0001583	missense	4218				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.114C>G	19.37:g.16222825C>G	ENSP00000300935:p.Ile38Met		B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I38M	ENST00000300935.3	37	c.114	CCDS12339.1	19	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925852	0.73213	.	.	ENSG00000167461	ENST00000300935	T	0.77750	-1.12	4.54	3.51	0.40186	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76586	0.4008	N	0.21142	0.635	0.58432	D	0.999999	D;P;D	0.63880	0.979;0.831;0.993	D;P;D	0.71656	0.925;0.658;0.974	T	0.77086	-0.2718	10	0.87932	D	0	.	7.548	0.27778	0.1674:0.7435:0.0:0.0891	.	38;38;33	B4DEK7;P61006;Q59EP4	.;RAB8A_HUMAN;.	M	38	ENSP00000300935:I38M	ENSP00000300935:I38M	I	+	3	3	RAB8A	16083825	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.184000	0.42575	2.516000	0.84829	0.491000	0.48974	ATC	RAB8A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.647	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8A	HGNC	protein_coding	OTTHUMT00000460186.1	C	NM_005370		16222825	+1	no_errors	ENST00000300935	ensembl	human	known	70_37	missense	SNP	1.000	G
RALGPS2	55103	genome.wustl.edu	37	1	178777210	178777210	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:178777210G>C	ENST00000367635.3	+	5	582	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	RALGPS2_ENST00000367634.2_Missense_Mutation_p.E82Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	82	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAATAAAAAAGAAAAATATAG	0.313																																																	0													50.0	54.0	52.0					1																	178777210		2201	4293	6494	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.244G>C	1.37:g.178777210G>C	ENSP00000356607:p.Glu82Gln		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.E82Q	ENST00000367635.3	37	c.244	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590920	0.86851	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.30448	1.53;1.53;1.53	5.49	5.49	0.81192	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.044822	0.85682	D	0.000000	T	0.50343	0.1610	L	0.49126	1.545	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.66351	0.887;0.943	T	0.48969	-0.8987	10	0.72032	D	0.01	.	18.1462	0.89656	0.0:0.0:1.0:0.0	.	82;82	B7Z7B1;Q86X27	.;RGPS2_HUMAN	Q	82;82;47	ENSP00000356607:E82Q;ENSP00000356606:E82Q;ENSP00000313613:E47Q	ENSP00000313613:E47Q	E	+	1	0	RALGPS2	177043833	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.924000	0.92827	2.593000	0.87608	0.655000	0.94253	GAA	RALGPS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.313	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	G	NM_152663		178777210	+1	no_errors	ENST00000367635	ensembl	human	known	70_37	missense	SNP	1.000	C
RANBP6	26953	genome.wustl.edu	37	9	6013147	6013147	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:6013147C>G	ENST00000259569.5	-	1	2471	c.2461G>C	c.(2461-2463)Gtg>Ctg	p.V821L	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	821					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TGTCTTTTCACCTGTCTCAAT	0.373																																																	0													124.0	127.0	126.0					9																	6013147		2203	4299	6502	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2461G>C	9.37:g.6013147C>G	ENSP00000259569:p.Val821Leu		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.V821L	ENST00000259569.5	37	c.2461	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	C	9.637	1.137839	0.21123	.	.	ENSG00000137040	ENST00000259569	T	0.09350	2.99	4.04	4.04	0.47022	Armadillo-like helical (1);Armadillo-type fold (1);	0.148901	0.46758	U	0.000266	T	0.05547	0.0146	N	0.03115	-0.41	0.41524	D	0.988416	B;B	0.11235	0.001;0.004	B;B	0.10450	0.003;0.005	T	0.40327	-0.9569	10	0.33141	T	0.24	-12.9091	14.5232	0.67867	0.0:1.0:0.0:0.0	.	409;821	B4DTX6;O60518	.;RNBP6_HUMAN	L	821	ENSP00000259569:V821L	ENSP00000259569:V821L	V	-	1	0	RANBP6	6003147	0.931000	0.31567	1.000000	0.80357	0.985000	0.73830	4.102000	0.57776	2.542000	0.85734	0.650000	0.86243	GTG	RANBP6	-	superfamily_ARM-type_fold		0.373	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	C	NM_012416		6013147	-1	no_errors	ENST00000259569	ensembl	human	known	70_37	missense	SNP	1.000	G
RASA4	10156	genome.wustl.edu	37	7	102246352	102246352	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:102246352C>A	ENST00000262940.7	-	5	448	c.381G>T	c.(379-381)tgG>tgT	p.W127C	RP11-514P8.6_ENST00000519541.1_3'UTR|AC105052.1_ENST00000411396.1_RNA|RASA4_ENST00000449970.2_Missense_Mutation_p.W127C|RASA4_ENST00000461209.1_Missense_Mutation_p.W55C|RASA4_ENST00000462172.1_Missense_Mutation_p.W55C	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN	RAS p21 protein activator 4	127					cellular response to calcium ion (GO:0071277)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			lung(1)|prostate(1)|urinary_tract(1)	3						GGGCCCCTGGCCACACTTCCA	0.692																																																	0													13.0	8.0	10.0					7																	102246352		2126	3892	6018	SO:0001583	missense	10156			AB011110	CCDS5725.1, CCDS47674.1	7q22-q31.1	2008-12-05			ENSG00000105808	ENSG00000105808			23181	protein-coding gene	gene with protein product		607943				11448776	Standard	NM_001079877		Approved	KIAA0538, CAPRI, GAPL	uc003vae.3	O43374	OTTHUMG00000150383	ENST00000262940.7:c.381G>T	7.37:g.102246352C>A	ENSP00000262940:p.Trp127Cys		O60286|Q14CQ4|Q86UW3|Q96QU0	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.W127C	ENST00000262940.7	37	c.381	CCDS5725.1	7	.	.	.	.	.	.	.	.	.	.	c	3.797	-0.042509	0.07452	.	.	ENSG00000105808	ENST00000262940;ENST00000461209;ENST00000449970;ENST00000541884;ENST00000462172;ENST00000522801;ENST00000520042	T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	2.66	2.66	0.31614	C2 calcium/lipid-binding domain, CaLB (2);	0.847994	0.10071	N	0.719720	T	0.59555	0.2202	N	0.08118	0	0.21147	N	0.999778	B;B	0.29571	0.249;0.05	B;B	0.34301	0.179;0.054	T	0.52381	-0.8583	10	0.39692	T	0.17	.	7.0707	0.25177	0.2695:0.7304:0.0:0.0	.	127;127	O43374-2;O43374	.;RASL2_HUMAN	C	127;55;127;55;55;108;55	ENSP00000262940:W127C;ENSP00000420352:W55C;ENSP00000412876:W127C;ENSP00000438250:W55C;ENSP00000417395:W55C;ENSP00000430418:W108C;ENSP00000428732:W55C	ENSP00000262940:W127C	W	-	3	0	RASA4	102033420	0.000000	0.05858	0.060000	0.19600	0.034000	0.12701	-0.742000	0.04850	1.846000	0.53633	0.518000	0.50308	TGG	RASA4	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.692	RASA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA4	HGNC	protein_coding	OTTHUMT00000317900.3	C	NM_006989		102246352	-1	no_errors	ENST00000262940	ensembl	human	known	70_37	missense	SNP	0.405	A
RASAL2	9462	genome.wustl.edu	37	1	178269208	178269208	+	Missense_Mutation	SNP	G	G	A	rs144830827		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:178269208G>A	ENST00000367649.3	+	3	764	c.412G>A	c.(412-414)Gag>Aag	p.E138K	RASAL2_ENST00000448150.3_Missense_Mutation_p.E120K			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.E120*(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGTCCCTTCCGAGGGTCAGTT	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Nonsense(1)	ovary(1)						G	LYS/GLU	0,4406		0,0,2203	70.0	73.0	72.0		412	5.6	1.0	1	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RASAL2	NM_170692.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	138/1281	178269208	1,13005	2203	4300	6503	SO:0001583	missense	9462			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.412G>A	1.37:g.178269208G>A	ENSP00000356621:p.Glu138Lys	1945	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E138K	ENST00000367649.3	37	c.412	CCDS1321.2	1	.	.	.	.	.	.	.	.	.	.	G	34	5.327211	0.95708	0.0	1.16E-4	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.28454	1.61;1.61	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.58101	1.795	0.54753	D	0.999988	D	0.65815	0.995	D	0.68192	0.956	T	0.51624	-0.8682	10	0.72032	D	0.01	.	18.7722	0.91896	0.0:0.0:1.0:0.0	.	138	F8W755	.	K	120;138	ENSP00000407768:E120K;ENSP00000356621:E138K	ENSP00000356621:E138K	E	+	1	0	RASAL2	176535831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.994000	0.76251	2.793000	0.96121	0.655000	0.94253	GAG	RASAL2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.473	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000352415.1	G	NM_170692		178269208	+1	no_errors	ENST00000367649	ensembl	human	known	70_37	missense	SNP	1.000	A
RBM14	10432	genome.wustl.edu	37	11	66384308	66384308	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:66384308C>T	ENST00000310137.4	+	1	256	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RNU4-39P_ENST00000362455.1_RNA|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000443702.1_Silent_p.F39F|RBM14_ENST00000409738.4_Silent_p.F39F|RBM14_ENST00000393979.3_Silent_p.F39F|RBM14-RBM4_ENST00000500635.2_Silent_p.F39F|RBM14_ENST00000409372.1_Silent_p.F39F|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14-RBM4_ENST00000412278.2_Silent_p.F39F|RBM4_ENST00000514361.3_Silent_p.F39F	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	39	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTTCGCCTTCGTGCACATGC	0.701																																																	0													30.0	32.0	31.0					11																	66384308		2200	4293	6493	SO:0001819	synonymous_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.117C>T	11.37:g.66384308C>T			B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F39	ENST00000310137.4	37	c.117	CCDS8147.1	11																																																																																			RBM14	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.701	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66384308	+1	no_errors	ENST00000310137	ensembl	human	known	70_37	silent	SNP	1.000	T
RBM14	10432	genome.wustl.edu	37	11	66384488	66384488	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:66384488C>T	ENST00000310137.4	+	1	436	c.297C>T	c.(295-297)ttC>ttT	p.F99F	RNU4-39P_ENST00000362455.1_RNA|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000443702.1_Silent_p.F99F|RBM14_ENST00000409738.4_Silent_p.F99F|RBM14_ENST00000393979.3_Silent_p.F99F|RBM14-RBM4_ENST00000500635.2_Silent_p.F99F|RBM14_ENST00000409372.1_Silent_p.F99F|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14-RBM4_ENST00000412278.2_Silent_p.F99F|RBM4_ENST00000514361.3_Silent_p.F99F	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	99	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCAGCCTCTTCGAGCGCCGCG	0.642																																																	0													51.0	60.0	57.0					11																	66384488		2140	4179	6319	SO:0001819	synonymous_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.297C>T	11.37:g.66384488C>T			B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F99	ENST00000310137.4	37	c.297	CCDS8147.1	11																																																																																			RBM14	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.642	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66384488	+1	no_errors	ENST00000310137	ensembl	human	known	70_37	silent	SNP	1.000	T
RBPJ	3516	genome.wustl.edu	37	4	26417194	26417194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:26417194C>T	ENST00000361572.6	+	4	486	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	RBPJ_ENST00000504907.1_Nonsense_Mutation_p.Q84*|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.Q85*|RBPJ_ENST00000342320.4_Nonsense_Mutation_p.Q84*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.Q83*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.Q63*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.Q84*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.Q98*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	98					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACAAGAGTCTCAACCGTGTGC	0.418																																																	0													148.0	154.0	152.0					4																	26417194		2203	4300	6503	SO:0001587	stop_gained	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.292C>T	4.37:g.26417194C>T	ENSP00000354528:p.Gln98*		B4DY22|Q5XKH9|Q6P1N3	Nonsense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT_TIG_rcpt,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.Q98*	ENST00000361572.6	37	c.292	CCDS3437.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.126293	0.94429	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-14.4308	19.4292	0.94758	0.0:1.0:0.0:0.0	.	.	.	.	X	84;121;84;98;83;98;98;85;84;63;84;63;84;63;84;84;84;63	.	ENSP00000345206:Q98X	Q	+	1	0	RBPJ	26026292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.414000	0.80117	2.664000	0.90586	0.650000	0.86243	CAA	RBPJ	-	pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.418	RBPJ-002	KNOWN	basic|CCDS	protein_coding	RBPJ	HGNC	protein_coding	OTTHUMT00000215046.2	C	NM_015874		26417194	+1	no_errors	ENST00000342295	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RC3H2	54542	genome.wustl.edu	37	9	125667492	125667492	+	5'UTR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:125667492G>A	ENST00000357244.2	-	0	70				RC3H2_ENST00000373665.2_5'UTR|RC3H2_ENST00000423239.2_5'UTR|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000335387.5_5'UTR	NM_001100588.1	NP_001094058.1	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2						B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAGCTCGGCGGAGGTTTCACG	0.756																																																	0																																										SO:0001623	5_prime_UTR_variant	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000357244.2:c.-171C>T	9.37:g.125667492G>A			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	RNA	SNP	-	NULL	ENST00000357244.2	37	NULL	CCDS43874.1	9																																																																																			RC3H2	-	-		0.756	RC3H2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding		G	NM_018835		125667492	-1	no_errors	ENST00000478216	ensembl	human	known	70_37	rna	SNP	1.000	A
RECQL	5965	genome.wustl.edu	37	12	21639444	21639444	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:21639444G>A	ENST00000444129.2	-	5	938	c.470C>T	c.(469-471)tCa>tTa	p.S157L	RECQL_ENST00000421138.2_Missense_Mutation_p.S157L	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	157	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CATGGTTGCTGAAATTCCTAA	0.308								Other identified genes with known or suspected DNA repair function																																									0													65.0	64.0	65.0					12																	21639444		2203	4298	6501	SO:0001583	missense	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.470C>T	12.37:g.21639444G>A	ENSP00000416739:p.Ser157Leu		A8K6G2	Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S157L	ENST00000444129.2	37	c.470	CCDS31756.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.071981	0.93950	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748	T;T;T;T	0.75821	-0.97;-0.97;-0.08;-0.08	5.91	5.91	0.95273	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.122244	0.56097	D	0.000021	T	0.77184	0.4093	L	0.39692	1.235	0.53688	D	0.999972	D	0.56968	0.978	P	0.52598	0.703	T	0.74016	-0.3800	10	0.34782	T	0.22	-5.5078	20.2985	0.98592	0.0:0.0:1.0:0.0	.	157	P46063	RECQ1_HUMAN	L	157	ENSP00000416739:S157L;ENSP00000395449:S157L;ENSP00000379400:S157L;ENSP00000318727:S157L	ENSP00000318727:S157L	S	-	2	0	RECQL	21530711	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.917000	0.92751	2.793000	0.96121	0.655000	0.94253	TCA	RECQL	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ		0.308	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	G	NM_002907		21639444	-1	no_errors	ENST00000421138	ensembl	human	known	70_37	missense	SNP	1.000	A
REEP2	51308	genome.wustl.edu	37	5	137780478	137780478	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:137780478G>C	ENST00000254901.5	+	5	461	c.339G>C	c.(337-339)aaG>aaC	p.K113N	REEP2_ENST00000378339.2_Missense_Mutation_p.K113N|REEP2_ENST00000506158.1_Missense_Mutation_p.K75N	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	113					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCGAGACAAGAGCTATGAGA	0.597																																																	0													81.0	69.0	73.0					5																	137780478		2203	4300	6503	SO:0001583	missense	51308			AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.339G>C	5.37:g.137780478G>C	ENSP00000254901:p.Lys113Asn		Q53EM8|Q9NYF2	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.K113N	ENST00000254901.5	37	c.339	CCDS4205.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.111621|4.111621	0.77210|0.77210	.|.	.|.	ENSG00000132563|ENSG00000132563	ENST00000378339;ENST00000254901;ENST00000506158|ENST00000512126	D;D;D|.	0.88201|.	-2.35;-2.35;-1.51|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.163069|.	0.51477|.	D|.	0.000095|.	T|T	0.71484|0.71484	0.3345|0.3345	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999997|0.999997	P;P|.	0.42649|.	0.786;0.786|.	P;P|.	0.47626|.	0.449;0.552|.	T|T	0.69079|0.69079	-0.5240|-0.5240	10|5	0.62326|.	D|.	0.03|.	-6.8915|-6.8915	17.4692|17.4692	0.87641|0.87641	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	113;113|.	A8K3D2;Q9BRK0|.	.;REEP2_HUMAN|.	N|T	113;113;75|151	ENSP00000367590:K113N;ENSP00000254901:K113N;ENSP00000422530:K75N|.	ENSP00000254901:K113N|.	K|R	+|+	3|2	2|0	REEP2|REEP2	137808377|137808377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.899000|2.899000	0.48679|0.48679	2.670000|2.670000	0.90874|0.90874	0.650000|0.650000	0.86243|0.86243	AAG|AGA	REEP2	-	NULL		0.597	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	REEP2	HGNC	protein_coding	OTTHUMT00000251284.1	G	NM_016606		137780478	+1	no_errors	ENST00000378339	ensembl	human	known	70_37	missense	SNP	1.000	C
RET	5979	genome.wustl.edu	37	10	43615040	43615040	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:43615040G>A	ENST00000355710.3	+	14	2686	c.2454G>A	c.(2452-2454)gaG>gaA	p.E818E	RET_ENST00000340058.5_Silent_p.E818E	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	818	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCCTCCGCGAGAGCCGCAAAG	0.706		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0													19.0	21.0	20.0					10																	43615040		2203	4298	6501	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2454G>A	10.37:g.43615040G>A			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E818	ENST00000355710.3	37	c.2454	CCDS7200.1	10																																																																																			RET	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom		0.706	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	G	NM_020975		43615040	+1	no_errors	ENST00000355710	ensembl	human	known	70_37	silent	SNP	1.000	A
RFC3	5983	genome.wustl.edu	37	13	34395290	34395290	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:34395290C>T	ENST00000380071.3	+	2	239	c.109C>T	c.(109-111)Cat>Tat	p.H37Y	RFC3_ENST00000434425.1_Missense_Mutation_p.H37Y	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	37					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TGACTTTCCTCATCTGTTAGT	0.378																																																	0													226.0	206.0	213.0					13																	34395290		2203	4300	6503	SO:0001583	missense	5983				CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.109C>T	13.37:g.34395290C>T	ENSP00000369411:p.His37Tyr		C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.H37Y	ENST00000380071.3	37	c.109	CCDS9352.1	13	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736104	0.89482	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.52057	0.68;0.68	5.31	5.31	0.75309	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80228	-0.1469	10	0.87932	D	0	-19.5386	17.9643	0.89096	0.0:1.0:0.0:0.0	.	37;37;37	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	Y	37	ENSP00000369411:H37Y;ENSP00000401001:H37Y	ENSP00000369411:H37Y	H	+	1	0	RFC3	33293290	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.465000	0.80898	2.494000	0.84150	0.650000	0.86243	CAT	RFC3	-	smart_AAA+_ATPase		0.378	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC3	HGNC	protein_coding	OTTHUMT00000044450.2	C	NM_002915		34395290	+1	no_errors	ENST00000380071	ensembl	human	known	70_37	missense	SNP	1.000	T
RGS4	5999	genome.wustl.edu	37	1	163046287	163046287	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:163046287C>T	ENST00000367909.6	+	0	2895				RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000421743.2_3'UTR|RGS4_ENST00000367908.4_3'UTR	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4						inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTATAATTGTCATGACTTTCA	0.338																																					Ovarian(76;1257 1738 3039 6086)												0																																										SO:0001624	3_prime_UTR_variant	5999			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.*1937C>T	1.37:g.163046287C>T			A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	RNA	SNP	-	NULL	ENST00000367909.6	37	NULL	CCDS1243.1	1																																																																																			RGS4	-	-		0.338	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	C	NM_005613		163046287	+1	no_errors	ENST00000491263	ensembl	human	known	70_37	rna	SNP	0.004	T
RGS9	8787	genome.wustl.edu	37	17	63204072	63204072	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:63204072C>G	ENST00000262406.9	+	16	1303	c.1236C>G	c.(1234-1236)atC>atG	p.I412M	RGS9_ENST00000449996.3_Missense_Mutation_p.I409M|RGS9_ENST00000443584.3_Missense_Mutation_p.I409M	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	412	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AATCTCCGATCTATAAGGACA	0.398																																																	0													111.0	96.0	100.0					17																	63204072		1843	4089	5932	SO:0001583	missense	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1236C>G	17.37:g.63204072C>G	ENSP00000262406:p.Ile412Met		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.I412M	ENST00000262406.9	37	c.1236	CCDS42373.1	17	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100957	0.20552	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.02032	4.49;4.49	5.34	4.3	0.51218	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.171803	0.52532	D	0.000067	T	0.03477	0.0100	N	0.05414	-0.055	0.38540	D	0.949202	P;D;D	0.56746	0.937;0.977;0.972	P;P;P	0.61722	0.743;0.893;0.828	T	0.68614	-0.5362	10	0.27785	T	0.31	.	13.7359	0.62817	0.2249:0.7751:0.0:0.0	.	412;412;409	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	M	412;409	ENSP00000262406:I412M;ENSP00000396329:I409M	ENSP00000262406:I412M	I	+	3	3	RGS9	60634534	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.105000	0.31086	2.646000	0.89796	0.655000	0.94253	ATC	RGS9	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.398	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS9	HGNC	protein_coding	OTTHUMT00000445885.1	C	NM_003835		63204072	+1	no_errors	ENST00000262406	ensembl	human	known	70_37	missense	SNP	1.000	G
RILPL1	353116	genome.wustl.edu	37	12	123983273	123983273	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:123983273C>G	ENST00000376874.4	-	4	854	c.619G>C	c.(619-621)Gac>Cac	p.D207H	RILPL1_ENST00000340724.6_Missense_Mutation_p.D55H	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	207					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TGCCGAAGGTCATGGTTGATC	0.582																																																	0													91.0	91.0	91.0					12																	123983273		2012	4186	6198	SO:0001583	missense	353116			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.619G>C	12.37:g.123983273C>G	ENSP00000366070:p.Asp207His		Q66K36|Q8N1M0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,pfam_RILP	p.D207H	ENST00000376874.4	37	c.619	CCDS45006.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.073245	0.94000	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.22743	1.94;1.94	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70935	0.971;0.953;0.961	T	0.53535	-0.8425	10	0.87932	D	0	-7.4116	19.184	0.93635	0.0:1.0:0.0:0.0	.	183;207;56	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	H	207;55	ENSP00000366070:D207H;ENSP00000345874:D55H	ENSP00000345874:D55H	D	-	1	0	RILPL1	122549226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.548000	0.82154	2.614000	0.88457	0.561000	0.74099	GAC	RILPL1	-	NULL		0.582	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RILPL1	HGNC	protein_coding	OTTHUMT00000400595.1	C	NM_178314		123983273	-1	no_errors	ENST00000376874	ensembl	human	known	70_37	missense	SNP	1.000	G
RLN1	6013	genome.wustl.edu	37	9	5335539	5335539	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:5335539G>C	ENST00000223862.1	-	2	396	c.270C>G	c.(268-270)ttC>ttG	p.F90L	RLN1_ENST00000223858.4_3'UTR|RLN1_ENST00000487557.2_5'UTR	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	90					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		AATTAGCAATGAATTCCAACA	0.383																																																	0													79.0	78.0	78.0					9																	5335539		2203	4300	6503	SO:0001583	missense	6013				CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"""Endogenous ligands"""	10026	protein-coding gene	gene with protein product	"""prorelaxin H1"""	179730	"""relaxin 1 (H1)"""				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.270C>G	9.37:g.5335539G>C	ENSP00000223862:p.Phe90Leu		Q99936|Q9UQJ1	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.F90L	ENST00000223862.1	37	c.270	CCDS6462.1	9	.	.	.	.	.	.	.	.	.	.	G	0.783	-0.761652	0.02996	.	.	ENSG00000107018	ENST00000223862	T	0.16743	2.32	2.62	1.65	0.23941	Insulin-like (3);	2.589200	0.01385	N	0.013063	T	0.13628	0.0330	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.19666	0.026	T	0.27938	-1.0059	10	0.11182	T	0.66	.	7.2146	0.25953	0.0:0.279:0.721:0.0	.	90	P04808	REL1_HUMAN	L	90	ENSP00000223862:F90L	ENSP00000223862:F90L	F	-	3	2	RLN1	5325539	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.124000	0.10595	0.651000	0.30788	0.388000	0.25769	TTC	RLN1	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like		0.383	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN1	HGNC	protein_coding	OTTHUMT00000051617.1	G			5335539	-1	no_errors	ENST00000223862	ensembl	human	known	70_37	missense	SNP	0.001	C
RLN3	117579	genome.wustl.edu	37	19	14141637	14141637	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:14141637G>T	ENST00000431365.2	+	2	363	c.306G>T	c.(304-306)agG>agT	p.R102S	CTB-55O6.4_ENST00000590528.1_RNA|IL27RA_ENST00000263379.2_5'Flank|RLN3_ENST00000585987.1_3'UTR	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	102						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5						CCTTTTACAGGGGGCGACCCA	0.622																																																	0													45.0	49.0	48.0					19																	14141637		2203	4300	6503	SO:0001583	missense	117579			AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"""Endogenous ligands"""	17135	protein-coding gene	gene with protein product	"""prorelaxin H3"""	606855	"""relaxin 3 (H3)"""				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.306G>T	19.37:g.14141637G>T	ENSP00000397415:p.Arg102Ser		Q6UXW5	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family	p.R102S	ENST00000431365.2	37	c.306	CCDS12302.1	19	.	.	.	.	.	.	.	.	.	.	G	5.202	0.222891	0.09863	.	.	ENSG00000171136	ENST00000431365	D	0.87650	-2.28	4.96	-6.37	0.01963	Insulin-like (3);	0.817793	0.11446	N	0.563281	T	0.71434	0.3339	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.60084	-0.7332	10	0.09084	T	0.74	-7.5761	2.78	0.05358	0.2084:0.3251:0.3557:0.1108	.	102	Q8WXF3	REL3_HUMAN	S	102	ENSP00000397415:R102S	ENSP00000397415:R102S	R	+	3	2	RLN3	14002637	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.918000	0.01574	-0.838000	0.04218	0.491000	0.48974	AGG	RLN3	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like		0.622	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN3	HGNC	protein_coding	OTTHUMT00000458529.1	G			14141637	+1	no_errors	ENST00000431365	ensembl	human	known	70_37	missense	SNP	0.000	T
RNASE13	440163	genome.wustl.edu	37	14	21502283	21502283	+	Silent	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:21502283C>A	ENST00000382951.3	-	2	302	c.165G>T	c.(163-165)ctG>ctT	p.L55L	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	55						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		TATAGGACATCAGACCATTAC	0.443																																																	0													115.0	100.0	105.0					14																	21502283		2203	4300	6503	SO:0001819	synonymous_variant	440163			AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.165G>T	14.37:g.21502283C>A				Silent	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.L55	ENST00000382951.3	37	c.165	CCDS32039.1	14																																																																																			RNASE13	-	pfam_RNaseA_domain,superfamily_RNaseA_domain		0.443	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE13	HGNC	protein_coding	OTTHUMT00000411744.1	C			21502283	-1	no_errors	ENST00000382951	ensembl	human	known	70_37	silent	SNP	0.061	A
RNF10	9921	genome.wustl.edu	37	12	121000862	121000862	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:121000862C>G	ENST00000325954.4	+	8	1704	c.1243C>G	c.(1243-1245)Caa>Gaa	p.Q415E	RNF10_ENST00000413266.2_Missense_Mutation_p.Q415E	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	415					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCTGTTTTTCAACCCAGGAA	0.512																																																	0													140.0	128.0	132.0					12																	121000862		2203	4300	6503	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1243C>G	12.37:g.121000862C>G	ENSP00000322242:p.Gln415Glu		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q415E	ENST00000325954.4	37	c.1243	CCDS9201.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.13|15.13	2.743037|2.743037	0.49151|0.49151	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000537740|ENST00000325954;ENST00000458409;ENST00000413266	T|D;D	0.27890|0.88431	1.64|-2.36;-2.38	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.541831	.|0.20308	.|N	.|0.094885	D|D	0.83229|0.83229	0.5209|0.5209	L|L	0.42245|0.42245	1.32|1.32	0.35000|0.35000	D|D	0.755863|0.755863	.|B;B	.|0.27068	.|0.167;0.039	.|B;B	.|0.27380	.|0.079;0.031	T|T	0.79569|0.79569	-0.1749|-0.1749	7|10	0.02654|0.07644	T|T	1|0.81	.|.	14.0249|14.0249	0.64580|0.64580	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|415;415	.|Q8N5U6-2;Q8N5U6	.|.;RNF10_HUMAN	L|E	92|415	ENSP00000437392:F92L|ENSP00000322242:Q415E;ENSP00000415682:Q415E	ENSP00000437392:F92L|ENSP00000322242:Q415E	F|Q	+|+	3|1	2|0	RNF10|RNF10	119485245|119485245	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.994000|0.994000	0.84299|0.84299	3.444000|3.444000	0.52914|0.52914	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	TTC|CAA	RNF10	-	NULL		0.512	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4	C			121000862	+1	no_errors	ENST00000413266	ensembl	human	known	70_37	missense	SNP	0.993	G
RNF125	54941	genome.wustl.edu	37	18	29617208	29617208	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:29617208G>C	ENST00000217740.3	+	2	786	c.294G>C	c.(292-294)aaG>aaC	p.K98N	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	98					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CAGAGTATAAGAACTGCGCTG	0.443																																																	0													181.0	167.0	172.0					18																	29617208		2203	4300	6503	SO:0001583	missense	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.294G>C	18.37:g.29617208G>C	ENSP00000217740:p.Lys98Asn		Q9NX39	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K98N	ENST00000217740.3	37	c.294	CCDS11902.1	18	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926630	0.34002	.	.	ENSG00000101695	ENST00000217740	D	0.83419	-1.72	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);	0.357980	0.24185	N	0.040770	T	0.65439	0.2691	N	0.08118	0	0.27618	N	0.948434	B	0.14805	0.011	B	0.14023	0.01	T	0.51880	-0.8649	10	0.17832	T	0.49	-1.3475	10.7369	0.46130	0.0865:0.0:0.9135:0.0	.	98	Q96EQ8	RN125_HUMAN	N	98	ENSP00000217740:K98N	ENSP00000217740:K98N	K	+	3	2	RNF125	27871206	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	3.662000	0.54510	2.668000	0.90789	0.655000	0.94253	AAG	RNF125	-	NULL		0.443	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	G	NM_017831		29617208	+1	no_errors	ENST00000217740	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF126P1	376412	genome.wustl.edu	37	17	55123547	55123547	+	RNA	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:55123547C>T	ENST00000567452.1	+	0	709					NR_002818.2				ring finger protein 126 pseudogene 1																		CACGTAGGCTCCGGGCTCGAG	0.637																																																	0																																												376412			BC033555		17q23.2	2004-04-22				ENSG00000261192		"""RING-type (C3HC4) zinc fingers"""	30340	pseudogene	pseudogene						12477932	Standard	NR_002818		Approved		uc002iuw.3				17.37:g.55123547C>T				RNA	SNP	-	NULL	ENST00000567452.1	37	NULL		17																																																																																			RNF126P1	-	-		0.637	RNF126P1-002	KNOWN	basic	processed_transcript	RNF126P1	HGNC	pseudogene	OTTHUMT00000431453.1	C			55123547	+1	no_errors	ENST00000567452	ensembl	human	known	70_37	rna	SNP	0.256	T
RNF216	54476	genome.wustl.edu	37	7	5663694	5663694	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:5663694C>T	ENST00000425013.2	-	16	2498	c.2274G>A	c.(2272-2274)aaG>aaA	p.K758K	RNF216_ENST00000389902.3_Silent_p.K815K|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	758					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K815N(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCCTCCATTCTTTCTTTTCT	0.537																																																	1	Substitution - Missense(1)	urinary_tract(1)											119.0	115.0	117.0					7																	5663694		2203	4300	6503	SO:0001819	synonymous_variant	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2274G>A	7.37:g.5663694C>T			Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	smart_Znf_C6HC	p.K815	ENST00000425013.2	37	c.2445	CCDS34595.1	7																																																																																			RNF216	-	NULL		0.537	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF216	HGNC	protein_coding	OTTHUMT00000340374.1	C	NM_207111		5663694	-1	no_errors	ENST00000389902	ensembl	human	known	70_37	silent	SNP	1.000	T
RNF41	10193	genome.wustl.edu	37	12	56602063	56602063	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:56602063C>T	ENST00000345093.4	-	5	751	c.382G>A	c.(382-384)Gag>Aag	p.E128K	RNF41_ENST00000394013.2_Missense_Mutation_p.E57K|RNF41_ENST00000552244.1_Missense_Mutation_p.E128K|RNF41_ENST00000552656.1_Missense_Mutation_p.E128K	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	128					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TTGGGCAGCTCATCTTTGGGC	0.532																																																	0													117.0	85.0	96.0					12																	56602063		2203	4300	6503	SO:0001583	missense	10193			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.382G>A	12.37:g.56602063C>T	ENSP00000342755:p.Glu128Lys		A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.E128K	ENST00000345093.4	37	c.382	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.406694	0.96051	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656;ENST00000551711;ENST00000552244;ENST00000549038	T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74	4.93	4.93	0.64822	TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.051017	0.85682	D	0.000000	T	0.53061	0.1773	M	0.83692	2.655	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.64144	0.878;0.922	T	0.57452	-0.7809	10	0.56958	D	0.05	-17.6985	17.4472	0.87581	0.0:1.0:0.0:0.0	.	115;128	B4E353;Q9H4P4	.;RNF41_HUMAN	K	128;57;115;128;57;128;128	ENSP00000342755:E128K;ENSP00000377581:E57K;ENSP00000447303:E128K;ENSP00000450164:E57K;ENSP00000448187:E128K;ENSP00000446595:E128K	ENSP00000342755:E128K	E	-	1	0	RNF41	54888330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.587000	0.82613	2.749000	0.94314	0.655000	0.94253	GAG	RNF41	-	superfamily_TRAF-like,pfscan_Znf_SIAH		0.532	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	C	NM_005785		56602063	-1	no_errors	ENST00000345093	ensembl	human	known	70_37	missense	SNP	1.000	T
RNPEPL1	57140	genome.wustl.edu	37	2	241513702	241513702	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:241513702G>A	ENST00000270357.4	+	5	1011	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	140					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CACGTGGGAAGAGATGTGGCT	0.662																																																	0													78.0	67.0	71.0					2																	241513702		2203	4300	6503	SO:0001583	missense	57140					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.418G>A	2.37:g.241513702G>A	ENSP00000270357:p.Glu140Lys		Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.E140K	ENST00000270357.4	37	c.418		2	.	.	.	.	.	.	.	.	.	.	g	34	5.346858	0.95807	.	.	ENSG00000142327	ENST00000270357	T	0.05139	3.49	5.05	5.05	0.67936	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	M	0.85197	2.74	0.58432	D	0.999994	D	0.76494	0.999	D	0.76575	0.988	T	0.04930	-1.0917	10	0.62326	D	0.03	-3.0E-4	15.8722	0.79129	0.0:0.0:1.0:0.0	.	140	Q9HAU8	RNPL1_HUMAN	K	140	ENSP00000270357:E140K	ENSP00000270357:E140K	E	+	1	0	RNPEPL1	241162375	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.013000	0.93629	2.334000	0.79466	0.586000	0.80456	GAG	RNPEPL1	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N		0.662	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	RNPEPL1	HGNC	protein_coding	OTTHUMT00000257190.4	G	NM_018226		241513702	+1	no_errors	ENST00000270357	ensembl	human	known	70_37	missense	SNP	1.000	A
ROCK1	6093	genome.wustl.edu	37	18	18534772	18534772	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:18534772C>T	ENST00000399799.2	-	31	4765	c.3825G>A	c.(3823-3825)aaG>aaA	p.K1275K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1275	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					AGTCCTCTTTCTTATCTAAGT	0.383																																																	0													59.0	57.0	57.0					18																	18534772		2203	4300	6503	SO:0001819	synonymous_variant	6093				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.3825G>A	18.37:g.18534772C>T			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_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.K1275	ENST00000399799.2	37	c.3825	CCDS11870.2	18																																																																																			ROCK1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.383	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	C	NM_005406		18534772	-1	no_errors	ENST00000399799	ensembl	human	known	70_37	silent	SNP	1.000	T
ROR2	4920	genome.wustl.edu	37	9	94486597	94486597	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:94486597C>T	ENST00000375708.3	-	9	2377	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	ROR2_ENST00000375715.1_Missense_Mutation_p.E587K|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	727	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTCCAGCACTCGATCATGAGG	0.637																																																	0													49.0	46.0	47.0					9																	94486597		2203	4300	6503	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2179G>A	9.37:g.94486597C>T	ENSP00000364860:p.Glu727Lys		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E727K	ENST00000375708.3	37	c.2179	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525703	0.64860	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.82344	-1.6;-1.6	4.65	4.65	0.58169	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42548	D	0.000685	D	0.86100	0.5852	N	0.25485	0.75	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.85130	0.886;0.997	D	0.87671	0.2541	10	0.56958	D	0.05	.	17.7513	0.88435	0.0:1.0:0.0:0.0	.	727;587	Q01974;B1APY4	ROR2_HUMAN;.	K	587;727	ENSP00000364867:E587K;ENSP00000364860:E727K	ENSP00000364860:E727K	E	-	1	0	ROR2	93526418	1.000000	0.71417	0.991000	0.47740	0.575000	0.36095	5.762000	0.68809	2.415000	0.81967	0.561000	0.74099	GAG	ROR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.637	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94486597	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	missense	SNP	0.998	T
RPAP3	79657	genome.wustl.edu	37	12	48061569	48061569	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:48061569C>G	ENST00000005386.3	-	15	1894	c.1779G>C	c.(1777-1779)caG>caC	p.Q593H	RPAP3_ENST00000432584.3_Missense_Mutation_p.Q434H|RPAP3_ENST00000380650.4_Missense_Mutation_p.Q559H|RPAP3_ENST00000548211.1_5'Flank	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	593										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TTTTAACGATCTGGTTGAATA	0.294																																																	0													47.0	44.0	45.0					12																	48061569		2199	4296	6495	SO:0001583	missense	79657			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1779G>C	12.37:g.48061569C>G	ENSP00000005386:p.Gln593His		B4DRW9|Q6PHR5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q593H	ENST00000005386.3	37	c.1779	CCDS8753.1	12	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688260	0.68271	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.55234	0.53;0.53;0.53	5.73	-4.85	0.03142	.	0.312268	0.34959	N	0.003544	T	0.54029	0.1833	L	0.51422	1.61	0.33338	D	0.569477	D;D	0.62365	0.989;0.991	P;P	0.60789	0.807;0.879	T	0.62718	-0.6795	10	0.56958	D	0.05	.	9.4732	0.38856	0.1143:0.5594:0.0:0.3263	.	559;593	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	H	593;434;559	ENSP00000005386:Q593H;ENSP00000401823:Q434H;ENSP00000370024:Q559H	ENSP00000005386:Q593H	Q	-	3	2	RPAP3	46347836	0.021000	0.18746	0.964000	0.40570	0.951000	0.60555	-1.761000	0.01805	-0.670000	0.05282	-0.484000	0.04775	CAG	RPAP3	-	NULL		0.294	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP3	HGNC	protein_coding	OTTHUMT00000405340.1	C	NM_024604		48061569	-1	no_errors	ENST00000005386	ensembl	human	known	70_37	missense	SNP	0.951	G
RPGR	6103	genome.wustl.edu	37	X	38132722	38132722	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:38132722G>A	ENST00000339363.3	-	17	2940	c.2773C>T	c.(2773-2775)Ctt>Ttt	p.L925F	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.L720F|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000309513.3_Missense_Mutation_p.L658F			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	925					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCATCATCAAGCATGTATCCT	0.348																																																	0													202.0	156.0	171.0					X																	38132722		2201	4299	6500	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2773C>T	X.37:g.38132722G>A	ENSP00000343671:p.Leu925Phe		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L925F	ENST00000339363.3	37	c.2773		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.465|2.465	-0.323307|-0.323307	0.05350|0.05350	.|.	.|.	ENSG00000156313|ENSG00000156313	ENST00000494707|ENST00000339363;ENST00000309513;ENST00000318842	.|T;T;T	.|0.19250	.|2.21;2.49;2.16	4.86|4.86	-6.34|-6.34	0.01982|0.01982	.|.	.|.	.|.	.|.	.|.	T|T	0.09335|0.09335	0.0230|0.0230	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.18863	.|0.031	.|B	.|0.21917	.|0.037	T|T	0.40720|0.40720	-0.9548|-0.9548	5|9	.|0.10111	.|T	.|0.7	.|.	5.0215|5.0215	0.14363|0.14363	0.5185:0.0:0.2008:0.2808|0.5185:0.0:0.2008:0.2808	.|.	.|720	.|Q92834-2	.|.	V|F	131|925;658;720	.|ENSP00000343671:L925F;ENSP00000308783:L658F;ENSP00000322219:L720F	.|ENSP00000308783:L658F	A|L	-|-	2|1	0|0	RPGR|RPGR	38017666|38017666	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.045000|0.045000	0.14185|0.14185	-1.081000|-1.081000	0.03403|0.03403	-1.204000|-1.204000	0.02648|0.02648	0.410000|0.410000	0.27636|0.27636	GCT|CTT	RPGR	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.348	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		G	NM_000328		38132722	-1	no_errors	ENST00000339363	ensembl	human	known	70_37	missense	SNP	0.000	A
RPGR	6103	genome.wustl.edu	37	X	38146820	38146820	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:38146820C>T	ENST00000339363.3	-	14	2214	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000378505.2_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	683	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCTTCACTCTCAGTATTCATA	0.358																																																	0																																										SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2047G>A	X.37:g.38146820C>T	ENSP00000343671:p.Glu683Lys		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E683K	ENST00000339363.3	37	c.2047		X	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632968	0.29068	.	.	ENSG00000156313	ENST00000339363	T	0.17528	2.27	5.1	4.03	0.46877	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.13872	-1.0493	5	.	.	.	.	9.373	0.38266	0.0:0.8176:0.0:0.1824	.	.	.	.	K	683	ENSP00000343671:E683K	.	E	-	1	0	RPGR	38031764	0.093000	0.21703	0.103000	0.21229	0.024000	0.10985	1.177000	0.31969	2.122000	0.65172	0.540000	0.68198	GAG	RPGR	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.358	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		C	NM_000328		38146820	-1	no_errors	ENST00000339363	ensembl	human	known	70_37	missense	SNP	0.008	T
RPGR	6103	genome.wustl.edu	37	X	38158229	38158229	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:38158229G>A	ENST00000339363.3	-	10	1392	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.R409C|RPGR_ENST00000318842.7_Missense_Mutation_p.R409C|RPGR_ENST00000338898.3_Missense_Mutation_p.R409C|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.R409C			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	409					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CGCCGCATACGTGCTGATAGA	0.378																																																	0													85.0	72.0	76.0					X																	38158229		2202	4300	6502	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1225C>T	X.37:g.38158229G>A	ENSP00000343671:p.Arg409Cys		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R409C	ENST00000339363.3	37	c.1225		X	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316859	0.40996	.	.	ENSG00000156313	ENST00000339363;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T	0.56611	0.65;0.45;0.87;0.84;0.65	5.28	4.33	0.51752	.	0.000000	0.64402	D	0.000001	T	0.71821	0.3385	M	0.76328	2.33	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76631	-0.2888	10	0.87932	D	0	.	15.3864	0.74706	0.0:0.0:0.8502:0.1498	.	409;409	E9PE28;Q92834-2	.;.	C	409	ENSP00000343671:R409C;ENSP00000340208:R409C;ENSP00000322219:R409C;ENSP00000339531:R409C;ENSP00000367766:R409C	ENSP00000322219:R409C	R	-	1	0	RPGR	38043173	1.000000	0.71417	0.057000	0.19452	0.003000	0.03518	6.399000	0.73248	2.215000	0.71742	0.590000	0.80494	CGT	RPGR	-	NULL		0.378	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		G	NM_000328		38158229	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	missense	SNP	0.952	A
RPGRIP1L	23322	genome.wustl.edu	37	16	53729285	53729285	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:53729285G>A	ENST00000379925.3	-	3	281				RPGRIP1L_ENST00000568653.3_Nonsense_Mutation_p.Q106*|RPGRIP1L_ENST00000563746.1_Intron|RPGRIP1L_ENST00000262135.4_Intron|RPGRIP1L_ENST00000564374.1_Intron	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like						camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AGTAGAAACTGAACTGGAACC	0.393																																																	0																																										SO:0001627	intron_variant	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.230+777C>T	16.37:g.53729285G>A			A0PJ88|Q9Y2K8	Nonsense_Mutation	SNP	NULL	p.Q106*	ENST00000379925.3	37	c.316	CCDS32447.1	16																																																																																			RPGRIP1L	-	NULL		0.393	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	G	NM_015272		53729285	-1	no_errors	ENST00000568653	ensembl	human	putative	70_37	nonsense	SNP	0.000	A
RPL35	11224	genome.wustl.edu	37	9	127623691	127623691	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:127623691C>T	ENST00000348462.3	-	2	189				ARPC5L_ENST00000353214.2_5'Flank|RPL35_ENST00000373570.4_Intron	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		CCGGCCGCCTCACTTACATCT	0.607																																																	0													68.0	75.0	73.0					9																	127623691		2203	4300	6503	SO:0001627	intron_variant	11224			U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"""L ribosomal proteins"""	10344	protein-coding gene	gene with protein product	"""60S ribosomal protein L35"""					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.140+6G>A	9.37:g.127623691C>T			A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	RNA	SNP	-	NULL	ENST00000348462.3	37	NULL	CCDS6858.1	9																																																																																			RPL35	-	-		0.607	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL35	HGNC	protein_coding	OTTHUMT00000054035.1	C	NM_007209		127623691	-1	no_errors	ENST00000495728	ensembl	human	known	70_37	rna	SNP	0.241	T
RPL6P27	645387	genome.wustl.edu	37	18	6462298	6462298	+	RNA	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:6462298C>G	ENST00000583065.1	-	0	600									ribosomal protein L6 pseudogene 27																		TCATATTTCTCTTTTTCTGTG	0.423																																																	0																																												645387					18p11.31	2009-03-11				ENSG00000235552			36133	pseudogene	pseudogene						19123937	Standard	NG_009652		Approved						18.37:g.6462298C>G				RNA	SNP	-	NULL	ENST00000583065.1	37	NULL		18																																																																																			RPL6P27	-	-		0.423	RPL6P27-002	KNOWN	basic	processed_transcript	RPL6P27	HGNC	pseudogene	OTTHUMT00000444194.1	C	NG_009652		6462298	-1	no_errors	ENST00000583065	ensembl	human	known	70_37	rna	SNP	1.000	G
RUNX2	860	genome.wustl.edu	37	6	45390610	45390610	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:45390610C>G	ENST00000371438.1	+	2	697	c.339C>G	c.(337-339)ctC>ctG	p.L113L	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Silent_p.L113L|RUNX2_ENST00000541979.1_Silent_p.L181L|RUNX2_ENST00000371432.3_Silent_p.L99L|RUNX2_ENST00000371436.6_Silent_p.L113L|RUNX2_ENST00000465038.2_Silent_p.L113L|RUNX2_ENST00000359524.5_Silent_p.L99L|RUNX2_ENST00000352853.5_Silent_p.L181L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	113	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.		L -> R (in CLCD). {ECO:0000269|PubMed:10521292}.		BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCCGAACTCGTCCGCACCG	0.701																																																	0													36.0	38.0	37.0					6																	45390610		2203	4299	6502	SO:0001819	synonymous_variant	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.339C>G	6.37:g.45390610C>G			O14614|O14615|O95181	Silent	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt	p.L181	ENST00000371438.1	37	c.543	CCDS43467.2	6																																																																																			RUNX2	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt		0.701	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	C	NM_004348		45390610	+1	no_errors	ENST00000352853	ensembl	human	known	70_37	silent	SNP	0.988	G
RWDD3	25950	genome.wustl.edu	37	1	95712057	95712057	+	Intron	SNP	C	C	G	rs71588551|rs148395594	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:95712057C>G	ENST00000370202.4	+	3	649				RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000263893.6_Intron|RP11-57H12.5_ENST00000598739.1_RNA|RWDD3_ENST00000495272.1_Intron	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3						negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		CTTTGAGACTCAGAGTAAGAT	0.323																																																	0													37.0	34.0	35.0					1																	95712057		1789	4045	5834	SO:0001627	intron_variant	25950			BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.574-41C>G	1.37:g.95712057C>G			A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	RNA	SNP	-	NULL	ENST00000370202.4	37	NULL	CCDS41357.1	1																																																																																			RWDD3	-	-		0.323	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD3	HGNC	protein_coding	OTTHUMT00000030078.1	C	NM_015485		95712057	+1	no_errors	ENST00000460571	ensembl	human	known	70_37	rna	SNP	0.010	G
RYR2	6262	genome.wustl.edu	37	1	237765394	237765394	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:237765394G>C	ENST00000366574.2	+	35	4983	c.4666G>C	c.(4666-4668)Gag>Cag	p.E1556Q	RYR2_ENST00000360064.6_Missense_Mutation_p.E1554Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E1540Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1556	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCCAGTTTGAGTTGGGAAG	0.294																																																	0													63.0	60.0	61.0					1																	237765394		1794	4068	5862	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4666G>C	1.37:g.237765394G>C	ENSP00000355533:p.Glu1556Gln		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E1554Q	ENST00000366574.2	37	c.4660	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895429	0.91962	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69926	-0.44;-0.44;-0.44	5.63	5.63	0.86233	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000005	D	0.83723	0.5316	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85278	0.1060	10	0.87932	D	0	.	19.6732	0.95918	0.0:0.0:1.0:0.0	.	1556	Q92736	RYR2_HUMAN	Q	1556;1554;1540	ENSP00000355533:E1556Q;ENSP00000353174:E1554Q;ENSP00000443798:E1540Q	ENSP00000353174:E1554Q	E	+	1	0	RYR2	235832017	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.951000	0.87819	2.657000	0.90304	0.591000	0.81541	GAG	RYR2	-	pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.294	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237765394	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	C
RYR3	6263	genome.wustl.edu	37	15	34109084	34109084	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:34109084C>A	ENST00000389232.4	+	75	10594	c.10524C>A	c.(10522-10524)ttC>ttA	p.F3508L	RYR3_ENST00000415757.3_Missense_Mutation_p.F3503L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3508					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAACCTCTTCCTCCATGGCT	0.463																																																	0													72.0	68.0	69.0					15																	34109084		1882	4107	5989	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10524C>A	15.37:g.34109084C>A	ENSP00000373884:p.Phe3508Leu		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.F3508L	ENST00000389232.4	37	c.10524	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699137	0.68501	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.98419	-4.92	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	M	0.80508	2.5	0.58432	D	0.999998	D;D	0.71674	0.99;0.998	D;D	0.81914	0.979;0.995	D	0.99811	1.1041	10	0.72032	D	0.01	.	18.7322	0.91739	0.0:1.0:0.0:0.0	.	3503;3508	Q15413-2;Q15413	.;RYR3_HUMAN	L	3508;3507;3503	ENSP00000373884:F3508L	ENSP00000354735:F3503L	F	+	3	2	RYR3	31896376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.894000	0.69806	2.650000	0.89964	0.655000	0.94253	TTC	RYR3	-	superfamily_ARM-type_fold		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			34109084	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	A
SAP130	79595	genome.wustl.edu	37	2	128775373	128775373	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:128775373G>C	ENST00000259235.3	-	3	436	c.307C>G	c.(307-309)Cag>Gag	p.Q103E	SAP130_ENST00000357702.5_Missense_Mutation_p.Q103E|SAP130_ENST00000259234.6_Missense_Mutation_p.Q77E	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	103					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATCTGCACCTGTGGATAGGGC	0.577																																																	0													147.0	124.0	132.0					2																	128775373		2203	4300	6503	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.307C>G	2.37:g.128775373G>C	ENSP00000259235:p.Gln103Glu		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.Q103E	ENST00000259235.3	37	c.307	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014589	0.93404	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	L	0.36672	1.1	0.80722	D	1	D;P;D	0.58268	0.982;0.954;0.982	D;D;D	0.70227	0.968;0.954;0.968	T	0.66496	-0.5909	9	0.45353	T	0.12	-13.7856	18.1974	0.89828	0.0:0.0:1.0:0.0	.	103;77;103	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	E	103;103;77;77;77	.	ENSP00000259234:Q77E	Q	-	1	0	SAP130	128491843	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.018000	0.93657	2.726000	0.93360	0.585000	0.79938	CAG	SAP130	-	NULL		0.577	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	G	NM_024545		128775373	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	missense	SNP	1.000	C
SAYSD1	55776	genome.wustl.edu	37	6	39082734	39082734	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:39082734G>A	ENST00000229903.4	-	1	231	c.132C>T	c.(130-132)gcC>gcT	p.A44A	SAYSD1_ENST00000481599.1_5'UTR	NM_018322.1	NP_060792.1	Q9NPB0	SMDC1_HUMAN	SAYSVFN motif domain containing 1	44	Ala-rich.					cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)											GCCAGCCTGGGGCTGCCTTTA	0.662																																																	0													33.0	38.0	36.0					6																	39082734		2203	4300	6503	SO:0001819	synonymous_variant	55776			BC022007	CCDS4840.1	6p21.1	2011-12-13	2011-12-13	2011-12-13	ENSG00000112167	ENSG00000112167			21025	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 64"""	C6orf64			Standard	XM_005249222		Approved	FLJ11101	uc003ook.1	Q9NPB0	OTTHUMG00000014641	ENST00000229903.4:c.132C>T	6.37:g.39082734G>A			Q9H0D8	Silent	SNP	pfam_Uncharacterised_SAYSvFN	p.A44	ENST00000229903.4	37	c.132	CCDS4840.1	6																																																																																			SAYSD1	-	NULL		0.662	SAYSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SAYSD1	HGNC	protein_coding	OTTHUMT00000040448.1	G	NM_018322		39082734	-1	no_errors	ENST00000229903	ensembl	human	known	70_37	silent	SNP	0.459	A
SBF1	6305	genome.wustl.edu	37	22	50893488	50893488	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:50893488G>C	ENST00000390679.3	-	33	4744	c.4560C>G	c.(4558-4560)ttC>ttG	p.F1520L	SBF1_ENST00000380817.3_Missense_Mutation_p.F1546L|SBF1_ENST00000348911.6_Missense_Mutation_p.F1521L|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1520	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAGGTCCGGAAACGGCGGG	0.617																																																	0													42.0	50.0	47.0					22																	50893488		2095	4212	6307	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4560C>G	22.37:g.50893488G>C	ENSP00000375097:p.Phe1520Leu		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.F1546L	ENST00000390679.3	37	c.4638		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.136696|4.136696	0.77662|0.77662	.|.	.|.	ENSG00000100241|ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679|ENST00000418590	D;D;D|.	0.95622|.	-3.76;-3.76;-3.76|.	3.74|3.74	2.72|2.72	0.32119|0.32119	Myotubularin phosphatase domain (1);|.	0.058526|.	0.64402|.	N|.	0.000001|.	T|T	0.78438|0.78438	0.4283|0.4283	M|M	0.93062|0.93062	3.375|3.375	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.76494|.	0.999;0.99;0.997|.	D;D;D|.	0.87578|.	0.998;0.979;0.995|.	T|T	0.79783|0.79783	-0.1658|-0.1658	10|5	0.87932|.	D|.	0|.	.|.	7.8774|7.8774	0.29601|0.29601	0.1948:0.0:0.8052:0.0|0.1948:0.0:0.8052:0.0	.|.	1520;1546;79|.	O95248;O95248-4;A6PVG7|.	MTMR5_HUMAN;.;.|.	L|A	1546;1521;1556;1520|80	ENSP00000370196:F1546L;ENSP00000252027:F1521L;ENSP00000375097:F1520L|.	ENSP00000336522:F1556L|.	F|P	-|-	3|1	2|0	SBF1|SBF1	49240354|49240354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.978000|1.978000	0.40598|0.40598	0.923000|0.923000	0.37045|0.37045	0.462000|0.462000	0.41574|0.41574	TTC|CCG	SBF1	-	NULL		0.617	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		G			50893488	-1	no_errors	ENST00000380817	ensembl	human	known	70_37	missense	SNP	1.000	C
SBNO2	22904	genome.wustl.edu	37	19	1111509	1111509	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:1111509G>C	ENST00000361757.3	-	24	3042	c.2805C>G	c.(2803-2805)ttC>ttG	p.F935L	SBNO2_ENST00000587024.1_Missense_Mutation_p.F925L|SBNO2_ENST00000438103.2_Missense_Mutation_p.F878L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	935					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTACCCCGGAAGAAGGTGG	0.657																																																	0													20.0	23.0	22.0					19																	1111509		1864	4078	5942	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2805C>G	19.37:g.1111509G>C	ENSP00000354733:p.Phe935Leu		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.F935L	ENST00000361757.3	37	c.2805	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921868	0.33908	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.32	2.04	0.26737	.	0.266663	0.36893	N	0.002341	T	0.64023	0.2561	M	0.73372	2.23	0.34088	D	0.660331	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.68273	-0.5452	9	0.30078	T	0.28	-32.382	6.734	0.23399	0.3459:0.0:0.6541:0.0	.	935;878	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	L	935;878;942	.	ENSP00000250872:F942L	F	-	3	2	SBNO2	1062509	1.000000	0.71417	0.995000	0.50966	0.119000	0.20118	1.906000	0.39887	0.997000	0.38969	0.442000	0.29010	TTC	SBNO2	-	NULL		0.657	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	G	NM_014963		1111509	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	missense	SNP	1.000	C
ZBED9	114821	genome.wustl.edu	37	6	28540724	28540724	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:28540724G>C	ENST00000452236.2	-	4	3559	c.2942C>G	c.(2941-2943)tCt>tGt	p.S981C		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						taccacttcagaatgttttcc	0.353																																																	0													90.0	92.0	91.0					6																	28540724		2201	4298	6499	SO:0001583	missense	114821																														ENST00000452236.2:c.2942C>G	6.37:g.28540724G>C	ENSP00000395259:p.Ser981Cys			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.S981C	ENST00000452236.2	37	c.2942	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324012	0.41096	.	.	ENSG00000232040	ENST00000452236	T	0.22743	1.94	2.14	2.14	0.27477	Ribonuclease H-like (1);	0.717270	0.11640	N	0.543893	T	0.29288	0.0729	M	0.75615	2.305	0.26718	N	0.970835	D	0.69078	0.997	D	0.79784	0.993	T	0.02837	-1.1104	10	0.87932	D	0	.	7.8439	0.29414	0.0:0.0:1.0:0.0	.	981	Q6R2W3	SCND3_HUMAN	C	981	ENSP00000395259:S981C	ENSP00000395259:S981C	S	-	2	0	SCAND3	28648703	0.702000	0.27816	0.997000	0.53966	0.998000	0.95712	2.318000	0.43779	1.507000	0.48752	0.561000	0.74099	TCT	SCAND3	-	superfamily_RNaseH-like_dom		0.353	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	G			28540724	-1	no_errors	ENST00000452236	ensembl	human	known	70_37	missense	SNP	0.998	C
SCEL	8796	genome.wustl.edu	37	13	78176270	78176270	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:78176270C>T	ENST00000349847.3	+	16	1061				SCEL_ENST00000377246.3_Intron|SCEL-AS1_ENST00000457528.2_RNA|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000535157.1_Intron|SCEL_ENST00000469982.1_Intron	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin						embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GTAAGTCAATCTCCTACCTTG	0.388																																																	0													104.0	102.0	103.0					13																	78176270		2203	4300	6503	SO:0001627	intron_variant	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.977+11C>T	13.37:g.78176270C>T			B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Splice_Site	SNP	-	NULL	ENST00000349847.3	37	c.NULL	CCDS9459.1	13																																																																																			SCEL-AS1	-	-		0.388	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL-AS1	HGNC	protein_coding	OTTHUMT00000045339.2	C	NM_144777		78176270	-1	no_errors	ENST00000456280	ensembl	human	known	70_37	splice_site	SNP	0.000	T
SCN2A	6326	genome.wustl.edu	37	2	166226734	166226734	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:166226734G>A	ENST00000375437.2	+	20	4064	c.3774G>A	c.(3772-3774)ctG>ctA	p.L1258L	SCN2A_ENST00000283256.6_Silent_p.L1258L|SCN2A_ENST00000375427.2_Silent_p.L1258L|SCN2A_ENST00000357398.3_Silent_p.L1258L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1258					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGAAATGCTGCTAAAGTGGG	0.393																																																	0													193.0	184.0	187.0					2																	166226734		2203	4300	6503	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3774G>A	2.37:g.166226734G>A			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L1258	ENST00000375437.2	37	c.3774	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Ion_trans_dom		0.393	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	G	NM_021007		166226734	+1	no_errors	ENST00000283256	ensembl	human	known	70_37	silent	SNP	0.997	A
SCN4A	6329	genome.wustl.edu	37	17	62022075	62022075	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:62022075G>A	ENST00000435607.1	-	21	3946	c.3870C>T	c.(3868-3870)ttC>ttT	p.F1290F	SCN4A_ENST00000578147.1_Silent_p.F1290F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1290					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGACGCCAATGAAGAGGTTGA	0.542																																																	0													110.0	112.0	111.0					17																	62022075		2189	4299	6488	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3870C>T	17.37:g.62022075G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.F1290	ENST00000435607.1	37	c.3870	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		G	NM_000334		62022075	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	1.000	A
SCN4A	6329	genome.wustl.edu	37	17	62022108	62022108	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:62022108G>A	ENST00000435607.1	-	21	3913	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	SCN4A_ENST00000578147.1_Silent_p.I1279I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1279					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCCAAAGATGATGAAGATGA	0.532																																																	0													145.0	146.0	146.0					17																	62022108		2190	4299	6489	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3837C>T	17.37:g.62022108G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.I1279	ENST00000435607.1	37	c.3837	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom		0.532	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		G	NM_000334		62022108	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	1.000	A
SCNN1D	6339	genome.wustl.edu	37	1	1225898	1225898	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:1225898C>G	ENST00000338555.2	+	11	2474	c.1330C>G	c.(1330-1332)Cgg>Ggg	p.R444G	SCNN1D_ENST00000400928.3_Missense_Mutation_p.R444G|SCNN1D_ENST00000325425.8_Missense_Mutation_p.R510G|SCNN1D_ENST00000379116.5_Missense_Mutation_p.R608G			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	444					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	GGAGACCCACCGGCTCCCCTG	0.667																																																	0													63.0	70.0	68.0					1																	1225898		2193	4295	6488	SO:0001583	missense	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1330C>G	1.37:g.1225898C>G	ENSP00000339504:p.Arg444Gly		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC	p.R608G	ENST00000338555.2	37	c.1822		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.42|10.42	1.345169|1.345169	0.24426|0.24426	.|.	.|.	ENSG00000162572|ENSG00000162572	ENST00000379099|ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	.|T;T;T;T	.|0.63096	.|-0.02;-0.02;-0.02;-0.02	3.52|3.52	-1.28|-1.28	0.09318|0.09318	.|.	.|1.044700	.|0.07614	.|N	.|0.925910	T|T	0.52451|0.52451	0.1735|0.1735	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.50066	.|0.448;0.089;0.931	.|B;B;B	.|0.40602	.|0.115;0.063;0.334	T|T	0.49952|0.49952	-0.8884|-0.8884	5|10	.|0.62326	.|D	.|0.03	.|.	2.5403|2.5403	0.04724|0.04724	0.3249:0.4271:0.1481:0.0999|0.3249:0.4271:0.1481:0.0999	.|.	.|266;444;608	.|B1AMF2;P51172;A6NNF7	.|.;SCNND_HUMAN;.	R|G	260|475;608;444;510;444	.|ENSP00000368411:R608G;ENSP00000339504:R444G;ENSP00000321594:R510G;ENSP00000383717:R444G	.|ENSP00000321594:R510G	P|R	+|+	2|1	0|2	SCNN1D|SCNN1D	1215761|1215761	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.044000|0.044000	0.14063|0.14063	-0.343000|-0.343000	0.07791|0.07791	-0.086000|-0.086000	0.12550|0.12550	0.485000|0.485000	0.47835|0.47835	CCG|CGG	SCNN1D	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.667	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	C	NM_002978		1225898	+1	no_errors	ENST00000379116	ensembl	human	known	70_37	missense	SNP	0.000	G
SCPEP1	59342	genome.wustl.edu	37	17	55058454	55058454	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:55058454G>C	ENST00000262288.3	+	2	143	c.88G>C	c.(88-90)Gac>Cac	p.D30H	SCPEP1_ENST00000571898.1_3'UTR|RP5-1107A17.4_ENST00000572877.1_RNA	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	30					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGCTGTCATTGACTGGCCCAC	0.493																																																	0													103.0	86.0	92.0					17																	55058454		2203	4300	6503	SO:0001583	missense	59342			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.88G>C	17.37:g.55058454G>C	ENSP00000262288:p.Asp30His		Q96A94|Q9H3F0	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.D30H	ENST00000262288.3	37	c.88	CCDS11593.1	17	.	.	.	.	.	.	.	.	.	.	G	11.73	1.724587	0.30593	.	.	ENSG00000121064	ENST00000262288	T	0.18338	2.22	5.84	-5.61	0.02489	.	1.161670	0.06536	U	0.742321	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.37337	-0.9710	10	0.45353	T	0.12	-27.4175	13.6569	0.62344	0.6442:0.0:0.3558:0.0	.	30	Q9HB40	RISC_HUMAN	H	30	ENSP00000262288:D30H	ENSP00000262288:D30H	D	+	1	0	SCPEP1	52413453	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-0.471000	0.06631	-0.965000	0.03591	-0.140000	0.14226	GAC	SCPEP1	-	NULL		0.493	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCPEP1	HGNC	protein_coding	OTTHUMT00000440622.1	G	NM_021626		55058454	+1	no_errors	ENST00000262288	ensembl	human	known	70_37	missense	SNP	0.000	C
SCUBE2	57758	genome.wustl.edu	37	11	9072167	9072167	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:9072167C>T	ENST00000309263.3	-	13	1610	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R542Q|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R542Q			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	513						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TAGTGCTGGTCGCAGACCCTC	0.537																																																	0													128.0	114.0	118.0					11																	9072167		2201	4296	6497	SO:0001583	missense	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1538G>A	11.37:g.9072167C>T	ENSP00000310658:p.Arg513Gln		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.R542Q	ENST00000309263.3	37	c.1625		11	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280124	0.40294	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000520467	T;T;T	0.80566	-1.22;-1.31;-1.39	5.36	0.962	0.19643	.	0.467635	0.23275	N	0.049974	T	0.62816	0.2459	.	.	.	0.24909	N	0.992052	B;B	0.13145	0.001;0.007	B;B	0.06405	0.002;0.002	T	0.44757	-0.9307	9	0.24483	T	0.36	.	5.6446	0.17582	0.0:0.4533:0.1507:0.396	.	542;513	Q9NQ36-2;Q9NQ36	.;SCUB2_HUMAN	Q	542;513;542	ENSP00000390481:R542Q;ENSP00000310658:R513Q;ENSP00000429969:R542Q	ENSP00000310658:R513Q	R	-	2	0	SCUBE2	9028743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.797000	0.26999	0.254000	0.21573	0.650000	0.86243	CGA	SCUBE2	-	NULL		0.537	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	C	NM_020974		9072167	-1	no_errors	ENST00000457346	ensembl	human	known	70_37	missense	SNP	0.957	T
SDPR	8436	genome.wustl.edu	37	2	192711513	192711513	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:192711513T>A	ENST00000304141.4	-	1	468	c.139A>T	c.(139-141)Atc>Ttc	p.I47F	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TTGTCCCGGATGGCCTCCTCT	0.607																																																	0													110.0	95.0	100.0					2																	192711513		2203	4300	6503	SO:0001583	missense	8436			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.139A>T	2.37:g.192711513T>A	ENSP00000305675:p.Ile47Phe			Missense_Mutation	SNP	NULL	p.I47F	ENST00000304141.4	37	c.139	CCDS2313.1	2	.	.	.	.	.	.	.	.	.	.	T	13.48	2.251043	0.39797	.	.	ENSG00000168497	ENST00000304141	T	0.65549	-0.16	4.85	0.846	0.18955	.	0.531595	0.17472	N	0.173058	T	0.51890	0.1701	L	0.47716	1.5	0.35602	D	0.807966	P	0.37207	0.587	B	0.36289	0.221	T	0.57481	-0.7804	10	0.52906	T	0.07	-16.0245	10.3954	0.44198	0.0:0.0:0.4952:0.5048	.	47	O95810	SDPR_HUMAN	F	47	ENSP00000305675:I47F	ENSP00000305675:I47F	I	-	1	0	SDPR	192419758	0.002000	0.14202	0.993000	0.49108	0.874000	0.50279	-0.037000	0.12164	0.051000	0.15978	0.454000	0.30748	ATC	SDPR	-	NULL		0.607	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	T	NM_004657		192711513	-1	no_errors	ENST00000304141	ensembl	human	known	70_37	missense	SNP	0.999	A
SDR16C5	195814	genome.wustl.edu	37	8	57214059	57214059	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:57214059C>T	ENST00000303749.3	-	7	1547	c.910G>A	c.(910-912)Gac>Aac	p.D304N	SDR16C5_ENST00000522671.1_3'UTR|SDR16C5_ENST00000396721.2_Missense_Mutation_p.D260N	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	304					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTCTTTTGGTCAACAAAGCCA	0.388																																																	0													229.0	213.0	218.0					8																	57214059		2203	4300	6503	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.910G>A	8.37:g.57214059C>T	ENSP00000307607:p.Asp304Asn		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.D304N	ENST00000303749.3	37	c.910	CCDS6167.1	8	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205746	0.39003	.	.	ENSG00000170786	ENST00000396721;ENST00000303749	T;D	0.81499	-1.22;-1.5	5.32	4.44	0.53790	.	0.314388	0.38326	N	0.001736	T	0.55832	0.1945	N	0.01352	-0.895	0.24800	N	0.992708	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.54516	-0.8282	10	0.62326	D	0.03	.	11.4258	0.50009	0.1803:0.8197:0.0:0.0	.	260;304	Q8N3Y7-2;Q8N3Y7	.;RDHE2_HUMAN	N	260;304	ENSP00000379947:D260N;ENSP00000307607:D304N	ENSP00000307607:D304N	D	-	1	0	SDR16C5	57376613	0.006000	0.16342	0.011000	0.14972	0.001000	0.01503	1.304000	0.33482	1.243000	0.43853	0.655000	0.94253	GAC	SDR16C5	-	NULL		0.388	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR16C5	HGNC	protein_coding	OTTHUMT00000378235.1	C	NM_138969		57214059	-1	no_errors	ENST00000303749	ensembl	human	known	70_37	missense	SNP	0.034	T
SEMA3F	6405	genome.wustl.edu	37	3	50220166	50220166	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:50220166G>A	ENST00000002829.3	+	9	1337	c.853G>A	c.(853-855)Gag>Aag	p.E285K	SEMA3F_ENST00000413852.1_Missense_Mutation_p.E186K|SEMA3F_ENST00000434342.1_Missense_Mutation_p.E254K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	285	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCGGTCGGCAGAGGCGCCGCA	0.612																																																	0													59.0	68.0	65.0					3																	50220166		2203	4300	6503	SO:0001583	missense	6405			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.853G>A	3.37:g.50220166G>A	ENSP00000002829:p.Glu285Lys		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.E285K	ENST00000002829.3	37	c.853	CCDS2811.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.687161	0.96784	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000413852;ENST00000002829;ENST00000434342	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.333550	0.36134	N	0.002775	T	0.58836	0.2150	M	0.92367	3.3	0.58432	D	0.999997	P;P	0.46621	0.881;0.526	P;B	0.51657	0.676;0.285	T	0.69431	-0.5147	10	0.72032	D	0.01	.	18.0196	0.89251	0.0:0.0:1.0:0.0	.	254;285	C9JQ85;Q13275	.;SEM3F_HUMAN	K	254;254;186;285;254	ENSP00000392588:E254K;ENSP00000398399:E254K;ENSP00000388931:E186K;ENSP00000002829:E285K;ENSP00000409859:E254K	ENSP00000002829:E285K	E	+	1	0	SEMA3F	50195170	1.000000	0.71417	0.935000	0.37517	0.714000	0.41099	9.533000	0.98059	2.598000	0.87819	0.462000	0.41574	GAG	SEMA3F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.612	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	HGNC	protein_coding	OTTHUMT00000345929.1	G	NM_004186		50220166	+1	no_errors	ENST00000002829	ensembl	human	known	70_37	missense	SNP	1.000	A
SEMA4G	57715	genome.wustl.edu	37	10	102738363	102738363	+	Silent	SNP	G	G	A	rs192790321		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:102738363G>A	ENST00000370250.4	+	6	982	c.609G>A	c.(607-609)ctG>ctA	p.L203L	RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.L203L|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000210633.3_Silent_p.L203L	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	203	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CACACTCCCTGAGAACTGAGG	0.547																																																	0													55.0	53.0	53.0					10																	102738363		2203	4300	6503	SO:0001819	synonymous_variant	57715			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.609G>A	10.37:g.102738363G>A			A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.L203	ENST00000370250.4	37	c.609		10																																																																																			SEMA4G	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.547	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2	G			102738363	+1	no_errors	ENST00000210633	ensembl	human	known	70_37	silent	SNP	0.996	A
SEMA6C	10500	genome.wustl.edu	37	1	151107724	151107724	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:151107724C>T	ENST00000341697.3	-	15	3186	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	499	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGACCCTCAGTGTCCAGC	0.587																																																	0													171.0	158.0	163.0					1																	151107724		2203	4300	6503	SO:0001583	missense	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1495G>A	1.37:g.151107724C>T	ENSP00000344148:p.Glu499Lys		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.E499K	ENST00000341697.3	37	c.1495	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712809	0.89112	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.82	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.378211	0.28683	N	0.014484	T	0.08802	0.0218	N	0.13327	0.33	0.48762	D	0.999701	B;D;B;D	0.60575	0.029;0.988;0.111;0.979	B;P;B;B	0.53062	0.01;0.717;0.113;0.444	T	0.02275	-1.1184	10	0.02654	T	1	.	15.4519	0.75279	0.0:1.0:0.0:0.0	.	499;459;499;499	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	K	499;459;499;499	ENSP00000357910:E499K;ENSP00000357908:E459K;ENSP00000357909:E499K;ENSP00000344148:E499K	ENSP00000344148:E499K	E	-	1	0	SEMA6C	149374348	0.009000	0.17119	0.997000	0.53966	0.990000	0.78478	1.846000	0.39289	2.526000	0.85167	0.561000	0.74099	GAG	SEMA6C	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.587	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	C	NM_030913		151107724	-1	no_errors	ENST00000368913	ensembl	human	known	70_37	missense	SNP	1.000	T
SENP1	29843	genome.wustl.edu	37	12	48482958	48482958	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:48482958G>A	ENST00000004980.5	-	5	699				SENP1_ENST00000549518.1_Intron|SENP1_ENST00000339976.6_Silent_p.F145F|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000551330.1_Intron|SENP1_ENST00000549595.1_Intron|SENP1_ENST00000448372.1_Intron			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GAAAATTGATGAAGGAGCTGA	0.428																																																	0													175.0	167.0	169.0					12																	48482958		876	1991	2867	SO:0001627	intron_variant	29843			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.221-215C>T	12.37:g.48482958G>A			A8K7P5|Q86XC8	Silent	SNP	NULL	p.F145	ENST00000004980.5	37	c.435	CCDS44868.2	12																																																																																			SENP1	-	NULL		0.428	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1	G	NM_014554		48482958	-1	no_errors	ENST00000339976	ensembl	human	known	70_37	silent	SNP	1.000	A
SENP6	26054	genome.wustl.edu	37	6	76425309	76425309	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:76425309G>A	ENST00000447266.2	+	24	3816	c.3338G>A	c.(3337-3339)tGa>tAa	p.*1113*	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370014.3_Silent_p.*1113*|SENP6_ENST00000370010.2_Silent_p.*1106*	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	0					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCTCAGATTGACCATTTCTG	0.353																																																	0													105.0	93.0	97.0					6																	76425309		1863	4108	5971	SO:0001819	synonymous_variant	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3338G>A	6.37:g.76425309G>A			A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.*1113	ENST00000447266.2	37	c.3338	CCDS47454.1	6																																																																																			SENP6	-	NULL		0.353	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	G	NM_015571		76425309	+1	no_errors	ENST00000370014	ensembl	human	known	70_37	silent	SNP	0.817	A
SEPT7	989	genome.wustl.edu	37	7	35937985	35937985	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:35937985G>C	ENST00000435235.1	+	11	1399	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	SEPT7_ENST00000494488.2_Missense_Mutation_p.E362Q|SEPT7_ENST00000399034.2_Missense_Mutation_p.E377Q|SEPT7_ENST00000432293.2_Missense_Mutation_p.E27Q|SEPT7_ENST00000350320.6_Missense_Mutation_p.E375Q|SEPT7_ENST00000399035.3_Missense_Mutation_p.E375Q			Q16181	SEPT7_HUMAN	septin 7	376					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GAAGGACTCTGAAGCTGAGGT	0.348																																																	0													37.0	35.0	36.0					7																	35937985		1613	3525	5138	SO:0001583	missense	989			S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.967G>C	7.37:g.35937985G>C	ENSP00000413507:p.Glu323Gln		Q52M76|Q6NX50	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin7	p.E377Q	ENST00000435235.1	37	c.1129		7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335258	0.81801	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488;ENST00000432293	T;T;T;T;T	0.60171	0.41;0.36;0.36;0.36;0.21	4.9	4.9	0.64082	.	0.000000	0.85682	U	0.000000	T	0.79143	0.4396	M	0.90425	3.115	0.80722	D	1	P;D;D	0.62365	0.927;0.991;0.991	P;P;P	0.61132	0.697;0.838;0.884	D	0.84347	0.0530	10	0.72032	D	0.01	.	18.4385	0.90654	0.0:0.0:1.0:0.0	.	321;375;376	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	Q	323;377;375;375;321;323;362;27	ENSP00000413507:E323Q;ENSP00000381992:E377Q;ENSP00000344868:E375Q;ENSP00000381993:E375Q;ENSP00000438395:E362Q	ENSP00000344868:E375Q	E	+	1	0	SEPT7	35904510	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.832000	0.99423	2.438000	0.82558	0.563000	0.77884	GAA	SEPT7	-	pirsf_Septin		0.348	SEPT7-001	NOVEL	basic	protein_coding	SEPT7	HGNC	protein_coding	OTTHUMT00000338285.1	G	NM_001788		35937985	+1	no_errors	ENST00000399034	ensembl	human	known	70_37	missense	SNP	1.000	C
SETDB1	9869	genome.wustl.edu	37	1	150917569	150917569	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:150917569C>T	ENST00000271640.5	+	9	1315	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	SETDB1_ENST00000368962.2_Silent_p.V375V|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.V375V|SETDB1_ENST00000368963.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	375	Tudor 2.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAGCCTAGTCAGGATCCTCT	0.517																																																	0													95.0	85.0	89.0					1																	150917569		2203	4300	6503	SO:0001819	synonymous_variant	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1125C>T	1.37:g.150917569C>T			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.V375	ENST00000271640.5	37	c.1125	CCDS44217.1	1																																																																																			SETDB1	-	smart_Tudor		0.517	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	C			150917569	+1	no_errors	ENST00000271640	ensembl	human	known	70_37	silent	SNP	1.000	T
SEZ6L	23544	genome.wustl.edu	37	22	26688508	26688508	+	Silent	SNP	G	G	A	rs371822368		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:26688508G>A	ENST00000248933.6	+	2	326	c.231G>A	c.(229-231)gcG>gcA	p.A77A	SEZ6L_ENST00000404234.3_Silent_p.A77A|SEZ6L_ENST00000343706.4_Silent_p.A77A|SEZ6L_ENST00000360929.3_Silent_p.A77A|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000529632.2_Silent_p.A77A|SEZ6L_ENST00000402979.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	77					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACAGTCGGCGGAAGTGCTGG	0.652																																																	0								G	,,,,,	0,4406		0,0,2203	57.0	50.0	52.0		231,231,231,231,231,231	-6.1	0.0	22		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	77/1024,77/1014,77/1012,77/950,77/949,77/1025	26688508	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.231G>A	22.37:g.26688508G>A			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	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.A77	ENST00000248933.6	37	c.231	CCDS13833.1	22																																																																																			SEZ6L	-	NULL		0.652	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	G			26688508	+1	no_errors	ENST00000248933	ensembl	human	known	70_37	silent	SNP	0.000	A
SF1	7536	genome.wustl.edu	37	11	64536711	64536711	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:64536711G>A	ENST00000377390.3	-	7	1100	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	SF1_ENST00000227503.9_Missense_Mutation_p.R255W|SF1_ENST00000433274.2_Missense_Mutation_p.R229W|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.R255W|SF1_ENST00000377387.1_Missense_Mutation_p.R380W|SF1_ENST00000422298.2_Missense_Mutation_p.R140W|SF1_ENST00000377394.3_Missense_Mutation_p.R255W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	255					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R255W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCGTCTTCCCGAAGGGTCCCA	0.463																																																	1	Substitution - Missense(1)	skin(1)											93.0	90.0	91.0					11																	64536711		2201	4297	6498	SO:0001583	missense	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.763C>T	11.37:g.64536711G>A	ENSP00000366607:p.Arg255Trp		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.R255W	ENST00000377390.3	37	c.763	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385642	0.82792	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.61158	0.13;0.17;0.2;0.32;0.17;0.21;0.19	5.92	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.991;0.997;0.996;0.995;0.998;0.998	T	0.82981	-0.0187	10	0.87932	D	0	.	14.232	0.65898	0.0:0.0:0.8496:0.1504	.	140;255;255;255;255;380	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	W	380;255;255;255;255;140;229	ENSP00000366604:R380W;ENSP00000366607:R255W;ENSP00000227503:R255W;ENSP00000366611:R255W;ENSP00000334414:R255W;ENSP00000413084:R140W;ENSP00000396793:R229W	ENSP00000227503:R255W	R	-	1	2	SF1	64293287	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	3.996000	0.57009	1.481000	0.48307	0.557000	0.71058	CGG	SF1	-	NULL		0.463	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1	G	NM_004630		64536711	-1	no_errors	ENST00000377390	ensembl	human	known	70_37	missense	SNP	0.989	A
SF3B3	23450	genome.wustl.edu	37	16	70603912	70603912	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:70603912G>A	ENST00000302516.5	+	24	3479	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1090					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTCACAGGCAGAGGTGATCAT	0.542																																																	0													111.0	84.0	93.0					16																	70603912		2198	4300	6498	SO:0001583	missense	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3268G>A	16.37:g.70603912G>A	ENSP00000305790:p.Glu1090Lys		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.E1090K	ENST00000302516.5	37	c.3268	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551531	0.86127	.	.	ENSG00000189091	ENST00000302516	T	0.48522	0.81	5.66	5.66	0.87406	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	L	0.47716	1.5	0.80722	D	1	B	0.14438	0.01	B	0.22152	0.038	T	0.29822	-0.9999	10	0.38643	T	0.18	.	19.7566	0.96296	0.0:0.0:1.0:0.0	.	1090	Q15393	SF3B3_HUMAN	K	1090	ENSP00000305790:E1090K	ENSP00000305790:E1090K	E	+	1	0	SF3B3	69161413	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.768000	0.98965	2.671000	0.90904	0.563000	0.77884	GAG	SF3B3	-	pfam_Cleavage/polyA-sp_fac_asu_C		0.542	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	G	NM_012426		70603912	+1	no_errors	ENST00000302516	ensembl	human	known	70_37	missense	SNP	1.000	A
SF3B4	10262	genome.wustl.edu	37	1	149898637	149898637	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:149898637C>G	ENST00000271628.8	-	3	921	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	113	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGCAACTTCTCATCAATCTCA	0.468																																																	0													108.0	104.0	105.0					1																	149898637		2203	4300	6503	SO:0001583	missense	10262			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.337G>C	1.37:g.149898637C>G	ENSP00000271628:p.Glu113Gln		Q5SZ63	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E113Q	ENST00000271628.8	37	c.337	CCDS941.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723969	0.89298	.	.	ENSG00000143368	ENST00000271628;ENST00000457312	T;T	0.21361	2.01;2.01	4.91	4.91	0.64330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.39683	-0.9602	10	0.66056	D	0.02	.	17.2847	0.87138	0.0:1.0:0.0:0.0	.	113;113	Q53FG6;Q15427	.;SF3B4_HUMAN	Q	113;70	ENSP00000271628:E113Q;ENSP00000391114:E70Q	ENSP00000271628:E113Q	E	-	1	0	SF3B4	148165261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.552000	0.86080	0.643000	0.83706	GAG	SF3B4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.468	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B4	HGNC	protein_coding	OTTHUMT00000033753.1	C	NM_005850		149898637	-1	no_errors	ENST00000271628	ensembl	human	known	70_37	missense	SNP	1.000	G
SF3B4	10262	genome.wustl.edu	37	1	149898700	149898700	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:149898700G>A	ENST00000271628.8	-	3	858	c.274C>T	c.(274-276)Cac>Tac	p.H92Y	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	92					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TTTTTGTTGTGAGCTGATGCT	0.438																																																	0													133.0	119.0	124.0					1																	149898700		2203	4300	6503	SO:0001583	missense	10262			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.274C>T	1.37:g.149898700G>A	ENSP00000271628:p.His92Tyr		Q5SZ63	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H92Y	ENST00000271628.8	37	c.274	CCDS941.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827060	0.90955	.	.	ENSG00000143368	ENST00000271628;ENST00000457312	T;T	0.05580	3.42;3.42	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.04543	0.0124	N	0.17474	0.49	0.80722	D	1	P;P	0.45569	0.861;0.861	P;P	0.48488	0.579;0.579	T	0.46679	-0.9174	10	0.87932	D	0	.	17.2847	0.87138	0.0:0.0:1.0:0.0	.	92;92	Q53FG6;Q15427	.;SF3B4_HUMAN	Y	92;49	ENSP00000271628:H92Y;ENSP00000391114:H49Y	ENSP00000271628:H92Y	H	-	1	0	SF3B4	148165324	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.386000	0.97228	2.552000	0.86080	0.643000	0.83706	CAC	SF3B4	-	NULL		0.438	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B4	HGNC	protein_coding	OTTHUMT00000033753.1	G	NM_005850		149898700	-1	no_errors	ENST00000271628	ensembl	human	known	70_37	missense	SNP	1.000	A
SFI1	9814	genome.wustl.edu	37	22	31942899	31942899	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:31942899G>A	ENST00000400288.2	+	5	496	c.391G>A	c.(391-393)Gag>Aag	p.E131K	SFI1_ENST00000443326.1_Missense_Mutation_p.E49K|SFI1_ENST00000400289.1_Missense_Mutation_p.E49K|SFI1_ENST00000443011.1_Missense_Mutation_p.E49K|SFI1_ENST00000414585.1_Missense_Mutation_p.E49K|SFI1_ENST00000540643.1_Missense_Mutation_p.E107K|SFI1_ENST00000432498.1_Missense_Mutation_p.E131K	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	131					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ATGGAAAGAGGAGTGGTGGGT	0.408																																																	0													121.0	118.0	119.0					22																	31942899		1864	4103	5967	SO:0001583	missense	9814			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.391G>A	22.37:g.31942899G>A	ENSP00000383145:p.Glu131Lys		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	superfamily_Cyclin-like	p.E131K	ENST00000400288.2	37	c.391	CCDS43004.1	22	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605362	0.87157	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.12672	2.91;2.94;2.73;2.66;2.67;2.73;2.93	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	N	0.08118	0	0.27211	N	0.959906	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.998;0.999	D;D;D;D;D;D	0.91635	0.999;0.997;0.996;0.999;0.994;0.994	T	0.14420	-1.0473	10	0.66056	D	0.02	.	15.0634	0.71973	0.0:0.0:1.0:0.0	.	107;49;49;131;131;107	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	K	131;107;49;107;49;49;49;131	ENSP00000402679:E131K;ENSP00000443025:E107K;ENSP00000416469:E49K;ENSP00000397148:E49K;ENSP00000401199:E49K;ENSP00000383146:E49K;ENSP00000383145:E131K	ENSP00000383145:E131K	E	+	1	0	SFI1	30272899	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.449000	0.66619	2.650000	0.89964	0.591000	0.81541	GAG	SFI1	-	NULL		0.408	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	G	NM_014775		31942899	+1	no_errors	ENST00000400288	ensembl	human	known	70_37	missense	SNP	1.000	A
SFRP5	6425	genome.wustl.edu	37	10	99527272	99527272	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:99527272C>T	ENST00000266066.3	-	3	1071	c.953G>A	c.(952-954)tGa>tAa	p.*318*		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	0					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.?(1)		large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		GAGTGCCCTTCAGTGGGGCTC	0.577																																																	1	Unknown(1)	ovary(1)											35.0	29.0	31.0					10																	99527272		2202	4299	6501	SO:0001819	synonymous_variant	6425			AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.953G>A	10.37:g.99527272C>T			O14780|Q86TH7	Silent	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.*318	ENST00000266066.3	37	c.953	CCDS7472.1	10																																																																																			SFRP5	-	NULL		0.577	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP5	HGNC	protein_coding	OTTHUMT00000049742.1	C	NM_003015		99527272	-1	no_errors	ENST00000266066	ensembl	human	known	70_37	silent	SNP	0.998	T
SH3TC2	79628	genome.wustl.edu	37	5	148407944	148407944	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:148407944C>T	ENST00000515425.1	-	11	1452	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E444K|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E336K|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	451					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGCAGTTCCGGGTCATCA	0.567																																																	0													65.0	67.0	67.0					5																	148407944		2203	4300	6503	SO:0001583	missense	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1351G>A	5.37:g.148407944C>T	ENSP00000423660:p.Glu451Lys		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.E451K	ENST00000515425.1	37	c.1351	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	C	7.706	0.694177	0.15039	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.75154	-0.91;-0.91;-0.54	5.5	5.5	0.81552	.	0.129067	0.53938	D	0.000043	T	0.51227	0.1662	L	0.28192	0.835	0.36968	D	0.893683	P;B;B;B	0.38020	0.615;0.115;0.115;0.115	B;B;B;B	0.29267	0.1;0.056;0.056;0.056	T	0.55166	-0.8183	10	0.10636	T	0.68	.	6.6322	0.22863	0.0:0.7999:0.0:0.2001	.	336;444;451;451	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	K	451;444;336	ENSP00000423660:E451K;ENSP00000421860:E444K;ENSP00000377886:E336K	ENSP00000377886:E336K	E	-	1	0	SH3TC2	148388137	1.000000	0.71417	0.995000	0.50966	0.394000	0.30568	4.107000	0.57811	2.861000	0.98227	0.655000	0.94253	GAA	SH3TC2	-	NULL		0.567	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	C	NM_024577		148407944	-1	no_errors	ENST00000515425	ensembl	human	known	70_37	missense	SNP	0.978	T
SHD	56961	genome.wustl.edu	37	19	4283076	4283076	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:4283076C>G	ENST00000543264.2	+	3	1892	c.429C>G	c.(427-429)ctC>ctG	p.L143L	SHD_ENST00000599689.1_Silent_p.L143L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	143										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTGCAGCTCTATGACACCC	0.617																																																	0													47.0	47.0	47.0					19																	4283076		2203	4300	6503	SO:0001819	synonymous_variant	56961			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.429C>G	19.37:g.4283076C>G			Q96NC2	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.L143	ENST00000543264.2	37	c.429	CCDS12125.1	19																																																																																			SHD	-	NULL		0.617	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SHD	HGNC	protein_coding	OTTHUMT00000458082.1	C	NM_020209		4283076	+1	no_errors	ENST00000543264	ensembl	human	known	70_37	silent	SNP	0.887	G
SHOX2	6474	genome.wustl.edu	37	3	157815852	157815852	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:157815852C>G	ENST00000425436.3	-	5	985	c.960G>C	c.(958-960)ctG>ctC	p.L320L	SHOX2_ENST00000441443.2_Silent_p.L179L|SHOX2_ENST00000490689.2_Silent_p.L179L|SHOX2_ENST00000483851.2_Silent_p.L308L|SHOX2_ENST00000389589.4_Silent_p.L344L	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	320					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTTTGGCTTTCAGTCTGAGAT	0.687																																																	0													188.0	201.0	196.0					3																	157815852		2203	4300	6503	SO:0001819	synonymous_variant	6474			AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.960G>C	3.37:g.157815852C>G			O60465|O60467|O60903	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_HTH_motif	p.L344	ENST00000425436.3	37	c.1032	CCDS43164.1	3																																																																																			SHOX2	-	pfam_OAR_dom,pfscan_OAR_dom		0.687	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHOX2	HGNC	protein_coding	OTTHUMT00000352057.2	C			157815852	-1	no_errors	ENST00000425436	ensembl	human	known	70_37	silent	SNP	1.000	G
SHROOM4	57477	genome.wustl.edu	37	X	50377022	50377022	+	Missense_Mutation	SNP	C	C	T	rs373712390		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:50377022C>T	ENST00000289292.7	-	4	2334	c.2051G>A	c.(2050-2052)cGa>cAa	p.R684Q	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R568Q|SHROOM4_ENST00000376020.2_Missense_Mutation_p.R684Q			Q9ULL8	SHRM4_HUMAN	shroom family member 4	684					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGGGCTTATTCGTCCCTCTAA	0.557																																																	0								C	GLN/ARG	0,3835		0,0,0,1632,571	42.0	36.0	38.0		2051	-9.7	0.0	X		38	1,6727		0,0,1,2428,1871	no	missense	SHROOM4	NM_020717.3	43	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	benign	684/1494	50377022	1,10562	2203	4300	6503	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2051G>A	X.37:g.50377022C>T	ENSP00000289292:p.Arg684Gln		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R684Q	ENST00000289292.7	37	c.2051	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	8.694	0.908138	0.17833	0.0	1.49E-4	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.16324	2.78;2.78;2.35	5.58	-9.69	0.00524	.	1.373440	0.04617	N	0.401254	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.30592	-0.9973	10	0.22109	T	0.4	.	12.7489	0.57298	0.0:0.6255:0.2471:0.1275	.	684	Q9ULL8	SHRM4_HUMAN	Q	684;684;568	ENSP00000289292:R684Q;ENSP00000365188:R684Q;ENSP00000421450:R568Q	ENSP00000289292:R684Q	R	-	2	0	SHROOM4	50393762	0.000000	0.05858	0.000000	0.03702	0.951000	0.60555	-2.788000	0.00768	-1.636000	0.01533	-0.340000	0.08031	CGA	SHROOM4	-	NULL		0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	C	NM_020717		50377022	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	missense	SNP	0.000	T
SIPA1	6494	genome.wustl.edu	37	11	65409788	65409788	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:65409788G>A	ENST00000394224.3	+	3	1043	c.747G>A	c.(745-747)gaG>gaA	p.E249E	SIPA1_ENST00000534313.1_Silent_p.E249E|SIPA1_ENST00000527525.1_Silent_p.E249E|SIPA1_ENST00000394227.3_Silent_p.E249E	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	249					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGCGGGAGGAGAAGGAGGGCA	0.677																																																	0													18.0	21.0	20.0					11																	65409788		2159	4259	6418	SO:0001819	synonymous_variant	6494			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.747G>A	11.37:g.65409788G>A			O14518|O60484|O60618|Q2YD83	Silent	SNP	pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E249	ENST00000394224.3	37	c.747	CCDS8108.1	11																																																																																			SIPA1	-	NULL		0.677	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	G	NM_006747		65409788	+1	no_errors	ENST00000394224	ensembl	human	known	70_37	silent	SNP	1.000	A
SIRT1	23411	genome.wustl.edu	37	10	69648778	69648778	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:69648778C>G	ENST00000212015.6	+	3	739	c.686C>G	c.(685-687)tCa>tGa	p.S229*	SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_Intron	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	229	Interaction with CCAR2.|Interaction with HIST1H1E.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AATATCCTTTCAGAACCACCA	0.338																																																	0													61.0	61.0	61.0					10																	69648778		2203	4300	6503	SO:0001587	stop_gained	23411			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.686C>G	10.37:g.69648778C>G	ENSP00000212015:p.Ser229*		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Nonsense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.S229*	ENST00000212015.6	37	c.686	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.927310	0.97110	.	.	ENSG00000096717	ENST00000212015	.	.	.	5.61	5.61	0.85477	.	0.318978	0.29892	N	0.010935	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.4704	19.2326	0.93846	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	ENSP00000212015:S229X	S	+	2	0	SIRT1	69318784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.639000	0.89480	0.655000	0.94253	TCA	SIRT1	-	NULL		0.338	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1	C			69648778	+1	no_errors	ENST00000212015	ensembl	human	known	70_37	nonsense	SNP	1.000	G
SIRT4	23409	genome.wustl.edu	37	12	120750454	120750454	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:120750454C>G	ENST00000202967.4	+	3	752	c.693C>G	c.(691-693)gtC>gtG	p.V231V	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACCAGATGTCGTTTTCTTCG	0.532																																																	0													72.0	66.0	68.0					12																	120750454		2203	4300	6503	SO:0001819	synonymous_variant	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.693C>G	12.37:g.120750454C>G				Silent	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.V231	ENST00000202967.4	37	c.693	CCDS9194.1	12																																																																																			SIRT4	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom		0.532	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	C	NM_012240		120750454	+1	no_errors	ENST00000202967	ensembl	human	known	70_37	silent	SNP	1.000	G
SIX5	147912	genome.wustl.edu	37	19	46268875	46268875	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:46268875C>A	ENST00000317578.6	-	3	2485	c.2104G>T	c.(2104-2106)Gag>Tag	p.E702*	AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	702					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		AGCAGCCCCTCAGGGTCGGGG	0.672																																																	0													41.0	48.0	46.0					19																	46268875		2203	4299	6502	SO:0001587	stop_gained	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.2104G>T	19.37:g.46268875C>A	ENSP00000316842:p.Glu702*			Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E702*	ENST00000317578.6	37	c.2104	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	c	25.9	4.683512	0.88639	.	.	ENSG00000177045	ENST00000317578	.	.	.	3.16	2.07	0.26955	.	1.302320	0.05097	N	0.486258	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-11.8291	7.9674	0.30107	0.0:0.7295:0.2705:0.0	.	.	.	.	X	702	.	ENSP00000316842:E702X	E	-	1	0	SIX5	50960715	0.977000	0.34250	0.717000	0.30585	0.627000	0.37826	2.388000	0.44398	0.864000	0.35578	0.561000	0.74099	GAG	SIX5	-	NULL		0.672	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46268875	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	nonsense	SNP	0.732	A
SIX5	147912	genome.wustl.edu	37	19	46271345	46271345	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:46271345C>G	ENST00000317578.6	-	1	1139	c.758G>C	c.(757-759)cGa>cCa	p.R253P	AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000586498.1_RNA|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000591530.1_RNA|SIX5_ENST00000560168.1_Silent_p.A52A|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	253					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GTCGCGCTGTCGCCGGTTCTT	0.721																																																	0													14.0	16.0	16.0					19																	46271345		2197	4279	6476	SO:0001583	missense	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.758G>C	19.37:g.46271345C>G	ENSP00000316842:p.Arg253Pro			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R253P	ENST00000317578.6	37	c.758	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	c	16.14	3.038995	0.55003	.	.	ENSG00000177045	ENST00000317578	D	0.99167	-5.51	4.7	4.7	0.59300	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.773464	0.11580	N	0.549847	D	0.99648	0.9870	H	0.98936	4.375	0.33853	D	0.632823	D	0.89917	1.0	D	0.97110	1.0	D	0.98829	1.0750	10	0.87932	D	0	-4.5813	15.49	0.75597	0.0:1.0:0.0:0.0	.	253	Q8N196	SIX5_HUMAN	P	253	ENSP00000316842:R253P	ENSP00000316842:R253P	R	-	2	0	SIX5	50963185	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.589000	0.82641	2.327000	0.79052	0.561000	0.74099	CGA	SIX5	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.721	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46271345	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	missense	SNP	1.000	G
SIX5	147912	genome.wustl.edu	37	19	46271586	46271586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:46271586C>A	ENST00000317578.6	-	1	898	c.517G>T	c.(517-519)Gag>Tag	p.E173*	AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000586498.1_RNA|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000591530.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	173					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CGGGCCCGCTCGGCCTCATGG	0.687																																																	0													13.0	12.0	12.0					19																	46271586		2190	4272	6462	SO:0001587	stop_gained	147912			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.517G>T	19.37:g.46271586C>A	ENSP00000316842:p.Glu173*			Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E173*	ENST00000317578.6	37	c.517	CCDS12673.1	19	.	.	.	.	.	.	.	.	.	.	c	36	5.742214	0.96873	.	.	ENSG00000177045	ENST00000317578	.	.	.	3.59	3.59	0.41128	.	0.702099	0.13322	N	0.396571	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.5391	13.0904	0.59164	0.0:1.0:0.0:0.0	.	.	.	.	X	173	.	ENSP00000316842:E173X	E	-	1	0	SIX5	50963426	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.696000	0.54757	2.010000	0.58986	0.561000	0.74099	GAG	SIX5	-	NULL		0.687	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	C	NM_175875		46271586	-1	no_errors	ENST00000317578	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SLC12A2	6558	genome.wustl.edu	37	5	127493755	127493755	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:127493755C>T	ENST00000262461.2	+	16	2563	c.2374C>T	c.(2374-2376)Ctt>Ttt	p.L792F	SLC12A2_ENST00000343225.4_Missense_Mutation_p.L792F	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	792					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GCCACAGTGTCTTGTTATGAC	0.348																																																	0													129.0	118.0	122.0					5																	127493755		2203	4300	6503	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2374C>T	5.37:g.127493755C>T	ENSP00000262461:p.Leu792Phe		Q8N713|Q8WWH7	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L792F	ENST00000262461.2	37	c.2374	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840447	0.71488	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99051	-5.37;-5.37	5.3	4.41	0.53225	Amino acid permease domain (1);	0.072822	0.53938	D	0.000044	D	0.99468	0.9811	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98703	1.0701	10	0.72032	D	0.01	.	9.1151	0.36753	0.149:0.7696:0.0:0.0814	.	792;792	P55011-3;P55011	.;S12A2_HUMAN	F	792	ENSP00000262461:L792F;ENSP00000340878:L792F	ENSP00000262461:L792F	L	+	1	0	SLC12A2	127521654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.331000	0.33793	1.419000	0.47118	0.650000	0.86243	CTT	SLC12A2	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.348	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1	C	NM_001046		127493755	+1	no_errors	ENST00000262461	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC16A13	201232	genome.wustl.edu	37	17	6940134	6940134	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:6940134C>G	ENST00000308027.6	+	2	596	c.288C>G	c.(286-288)ctC>ctG	p.L96L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	96						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GGATGCTGCTCGCCTCTTTTG	0.582																																																	0													183.0	176.0	178.0					17																	6940134		2203	4300	6503	SO:0001819	synonymous_variant	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.288C>G	17.37:g.6940134C>G			A3KMG3|A5PKU5|Q2VP92	Silent	SNP	pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L96	ENST00000308027.6	37	c.288	CCDS11085.1	17																																																																																			SLC16A13	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.582	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A13	HGNC	protein_coding	OTTHUMT00000219923.2	C			6940134	+1	no_errors	ENST00000308027	ensembl	human	known	70_37	silent	SNP	0.185	G
SLC19A2	10560	genome.wustl.edu	37	1	169435091	169435091	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:169435091G>A	ENST00000236137.5	-	6	1726	c.1490C>T	c.(1489-1491)tCa>tTa	p.S497L	SLC19A2_ENST00000367804.4_Missense_Mutation_p.S296L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	497					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	AGTATATTATGAAGTGGTTAC	0.403																																																	0													128.0	124.0	126.0					1																	169435091		2203	4300	6503	SO:0001583	missense	10560			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1490C>T	1.37:g.169435091G>A	ENSP00000236137:p.Ser497Leu		B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier	p.S497L	ENST00000236137.5	37	c.1490	CCDS1280.1	1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969798	0.34754	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	D;D;D	0.86562	-2.14;-1.55;-2.11	5.81	3.91	0.45181	.	.	.	.	.	T	0.68732	0.3033	L	0.36672	1.1	0.30907	N	0.729093	B;B	0.15930	0.015;0.001	B;B	0.10450	0.005;0.001	T	0.62148	-0.6915	8	0.72032	D	0.01	-36.032	7.5265	0.27658	0.0838:0.0:0.7527:0.1635	.	296;497	O60779-2;O60779	.;S19A2_HUMAN	L	497;296;459	ENSP00000236137:S497L;ENSP00000356778:S296L;ENSP00000356776:S459L	ENSP00000236137:S497L	S	-	2	0	SLC19A2	167701715	0.024000	0.19004	0.163000	0.22734	0.868000	0.49771	1.823000	0.39062	0.775000	0.33450	0.650000	0.86243	TCA	SLC19A2	-	pirsf_Folate_carrier		0.403	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A2	HGNC	protein_coding	OTTHUMT00000086106.1	G	NM_006996		169435091	-1	no_errors	ENST00000236137	ensembl	human	known	70_37	missense	SNP	0.017	A
SLC1A6	6511	genome.wustl.edu	37	19	15067377	15067377	+	Silent	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:15067377G>T	ENST00000221742.3	-	6	1087	c.1080C>A	c.(1078-1080)ctC>ctA	p.L360L	SLC1A6_ENST00000430939.2_Silent_p.L296L|SLC1A6_ENST00000600144.1_Intron	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	360					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGAAGTAGATGAGGGGAAGGA	0.597																																																	0													184.0	145.0	158.0					19																	15067377		2203	4300	6503	SO:0001819	synonymous_variant	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1080C>A	19.37:g.15067377G>T			Q8N753	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L360	ENST00000221742.3	37	c.1080	CCDS12321.1	19																																																																																			SLC1A6	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.597	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	G	NM_005071		15067377	-1	no_errors	ENST00000221742	ensembl	human	known	70_37	silent	SNP	0.999	T
SLC22A14	9389	genome.wustl.edu	37	3	38347923	38347923	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:38347923C>A	ENST00000273173.4	+	1	497	c.406C>A	c.(406-408)Cct>Act	p.P136T	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Missense_Mutation_p.P136T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	136					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CATGTACCTTCCTGTGCCTTG	0.522																																																	0													148.0	130.0	136.0					3																	38347923		2203	4300	6503	SO:0001583	missense	9389			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.406C>A	3.37:g.38347923C>A	ENSP00000273173:p.Pro136Thr		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P136T	ENST00000273173.4	37	c.406	CCDS2677.1	3	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144294	0.57044	.	.	ENSG00000144671	ENST00000466887;ENST00000448498;ENST00000423219;ENST00000273173	T;T;T	0.74106	-0.81;0.05;0.05	5.46	5.46	0.80206	Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.66939	2.045	0.51767	D	0.999939	D	0.71674	0.998	D	0.67231	0.95	D	0.85389	0.1124	10	0.62326	D	0.03	.	18.2465	0.89988	0.0:1.0:0.0:0.0	.	136	Q9Y267	S22AE_HUMAN	T	4;136;136;136	ENSP00000442528:P4T;ENSP00000396283:P136T;ENSP00000273173:P136T	ENSP00000273173:P136T	P	+	1	0	SLC22A14	38322927	1.000000	0.71417	0.626000	0.29213	0.052000	0.14988	6.989000	0.76219	2.741000	0.93983	0.655000	0.94253	CCT	SLC22A14	-	pfscan_MFS_dom		0.522	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	HGNC	protein_coding	OTTHUMT00000253742.3	C	NM_004803		38347923	+1	no_errors	ENST00000273173	ensembl	human	known	70_37	missense	SNP	0.998	A
SLC22A24	283238	genome.wustl.edu	37	11	62871649	62871649	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:62871649C>T	ENST00000417740.1	-	5	1393	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						CAGATCACCTCAGTGGTCAGT	0.403																																																	0													243.0	209.0	220.0					11																	62871649		692	1591	2283	SO:0001583	missense	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.952G>A	11.37:g.62871649C>T	ENSP00000396586:p.Glu318Lys			Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E318K	ENST00000417740.1	37	c.952		11	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867787	0.72065	.	.	ENSG00000197658	ENST00000417740;ENST00000531535	T	0.76578	-1.03	3.41	2.3	0.28687	.	.	.	.	.	D	0.85057	0.5610	M	0.83852	2.665	0.25949	N	0.982778	D	0.65815	0.995	D	0.63283	0.913	T	0.73209	-0.4055	9	0.49607	T	0.09	.	6.7769	0.23624	0.0:0.8444:0.0:0.1556	.	318	C9JC66	.	K	318	ENSP00000396586:E318K	ENSP00000396586:E318K	E	-	1	0	SLC22A24	62628225	0.061000	0.20836	0.085000	0.20634	0.724000	0.41520	0.721000	0.25911	0.605000	0.29947	0.530000	0.56133	GAG	SLC22A24	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.403	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	C	NM_173586		62871649	-1	no_errors	ENST00000417740	ensembl	human	putative	70_37	missense	SNP	0.417	T
SLC22A24	283238	genome.wustl.edu	37	11	62871743	62871743	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:62871743C>T	ENST00000417740.1	-	5	1299	c.858G>A	c.(856-858)ctG>ctA	p.L286L		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						TGTTGATAATCAGCCACCGAG	0.388																																																	0													224.0	188.0	199.0					11																	62871743		692	1591	2283	SO:0001819	synonymous_variant	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.858G>A	11.37:g.62871743C>T				Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L286	ENST00000417740.1	37	c.858		11																																																																																			SLC22A24	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.388	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	C	NM_173586		62871743	-1	no_errors	ENST00000417740	ensembl	human	putative	70_37	silent	SNP	0.913	T
SLC25A28	81894	genome.wustl.edu	37	10	101371144	101371144	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:101371144G>A	ENST00000370495.4	-	4	606				SLC25A28_ENST00000496035.1_Intron	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28						ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CATCAACGAGGAAGGAAATGG	0.493																																																	0													60.0	57.0	58.0					10																	101371144		2058	4201	6259	SO:0001627	intron_variant	81894			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.578-21C>T	10.37:g.101371144G>A			Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	RNA	SNP	-	NULL	ENST00000370495.4	37	NULL	CCDS41559.1	10																																																																																			SLC25A28	-	-		0.493	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A28	HGNC	protein_coding	OTTHUMT00000049801.1	G	NM_031212		101371144	-1	no_errors	ENST00000489307	ensembl	human	known	70_37	rna	SNP	0.361	A
SLC25A37	51312	genome.wustl.edu	37	8	23429135	23429135	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:23429135C>T	ENST00000519973.1	+	4	982	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	262					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		TAAGACCCTTCTGAACACTCA	0.672																																																	0													31.0	33.0	32.0					8																	23429135		1931	4101	6032	SO:0001819	synonymous_variant	51312			AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.784C>T	8.37:g.23429135C>T			A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L262	ENST00000519973.1	37	c.784	CCDS47828.1	8																																																																																			SLC25A37	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.672	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A37	HGNC	protein_coding	OTTHUMT00000376039.1	C	NM_016612		23429135	+1	no_errors	ENST00000519973	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC25A5	292	genome.wustl.edu	37	X	118604462	118604462	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:118604462C>G	ENST00000317881.8	+	3	841	c.725C>G	c.(724-726)tCa>tGa	p.S242*	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	242					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	ATGATGCAGTCAGGGCGCAAA	0.493																																																	0													61.0	55.0	57.0					X																	118604462		2203	4300	6503	SO:0001587	stop_gained	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.725C>G	X.37:g.118604462C>G	ENSP00000360671:p.Ser242*		B2RCV1|O43350	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.S242*	ENST00000317881.8	37	c.725	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	c	36	5.937366	0.97122	.	.	ENSG00000005022	ENST00000317881	.	.	.	4.33	4.33	0.51752	.	0.057947	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7621	0.78091	0.0:1.0:0.0:0.0	.	.	.	.	X	242	.	ENSP00000360671:S242X	S	+	2	0	SLC25A5	118488490	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	7.489000	0.81451	2.109000	0.64355	0.525000	0.51046	TCA	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2	C	NM_001152		118604462	+1	no_errors	ENST00000317881	ensembl	human	known	70_37	nonsense	SNP	1.000	G
SLC34A1	6569	genome.wustl.edu	37	5	176824801	176824801	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:176824801C>T	ENST00000324417.5	+	13	1525	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	478					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTCACTTCTTCTTCAACA	0.612																																																	0													105.0	90.0	95.0					5																	176824801		2203	4300	6503	SO:0001819	synonymous_variant	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1434C>T	5.37:g.176824801C>T			B4DPE3	Silent	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.F478	ENST00000324417.5	37	c.1434	CCDS4418.1	5																																																																																			SLC34A1	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.612	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	C	NM_003052		176824801	+1	no_errors	ENST00000324417	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC34A1	6569	genome.wustl.edu	37	5	176824813	176824813	+	Silent	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:176824813C>A	ENST00000324417.5	+	13	1537	c.1446C>A	c.(1444-1446)atC>atA	p.I482I	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	482					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTTCAACATCTCGGGTATCC	0.627																																																	0													105.0	91.0	95.0					5																	176824813		2203	4300	6503	SO:0001819	synonymous_variant	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1446C>A	5.37:g.176824813C>A			B4DPE3	Silent	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.I482	ENST00000324417.5	37	c.1446	CCDS4418.1	5																																																																																			SLC34A1	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.627	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	C	NM_003052		176824813	+1	no_errors	ENST00000324417	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC34A1	6569	genome.wustl.edu	37	5	176824930	176824930	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:176824930C>T	ENST00000324417.5	+	13	1654	c.1563C>T	c.(1561-1563)gtC>gtT	p.V521V	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	521					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCTCCTTGTCTGCTTCCTGC	0.652																																																	0													148.0	124.0	132.0					5																	176824930		2203	4300	6503	SO:0001819	synonymous_variant	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1563C>T	5.37:g.176824930C>T			B4DPE3	Silent	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.V521	ENST00000324417.5	37	c.1563	CCDS4418.1	5																																																																																			SLC34A1	-	tigrfam_Na/Pi_transpt		0.652	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	C	NM_003052		176824930	+1	no_errors	ENST00000324417	ensembl	human	known	70_37	silent	SNP	0.962	T
SLC35G5	83650	genome.wustl.edu	37	8	11189627	11189627	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:11189627G>C	ENST00000382435.4	+	1	1231	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	338						integral component of membrane (GO:0016021)											GAAGGTGGAGGAGTGAGATAG	0.468																																																	0													45.0	48.0	47.0					8																	11189627		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.1012G>C	8.37:g.11189627G>C	ENSP00000371872:p.Glu338Gln		A2RRL6	Missense_Mutation	SNP	pfam_DMT	p.E338Q	ENST00000382435.4	37	c.1012	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	g	4.994	0.184554	0.09495	.	.	ENSG00000177710	ENST00000382435	T	0.35973	1.28	.	.	.	.	0.495967	0.16739	N	0.201511	T	0.19167	0.0460	N	0.16478	0.41	0.25763	N	0.984925	B	0.06786	0.001	B	0.06405	0.002	T	0.15378	-1.0439	8	0.87932	D	0	.	.	.	.	.	338	Q96KT7	S35G5_HUMAN	Q	338	ENSP00000371872:E338Q	ENSP00000371872:E338Q	E	+	1	0	SLC35G5	11227037	0.344000	0.24827	0.247000	0.24249	0.248000	0.25809	0.394000	0.20834	0.064000	0.16427	0.064000	0.15345	GAG	SLC35G5	-	NULL		0.468	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	HGNC	protein_coding	OTTHUMT00000207313.2	G	NM_054028		11189627	+1	no_errors	ENST00000382435	ensembl	human	known	70_37	missense	SNP	0.993	C
SLC38A10	124565	genome.wustl.edu	37	17	79219518	79219518	+	Silent	SNP	C	C	T	rs201014536		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:79219518C>T	ENST00000374759.3	-	16	3581	c.3198G>A	c.(3196-3198)ccG>ccA	p.P1066P		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1066					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCCCATCCCTCGGGGCCAGCT	0.677																																																	0								C		1,4087		0,1,2043	28.0	32.0	31.0		3198	-8.1	0.0	17		31	7,8319		0,7,4156	no	coding-synonymous	SLC38A10	NM_001037984.1		0,8,6199	TT,TC,CC		0.0841,0.0245,0.0644		1066/1120	79219518	8,12406	2044	4163	6207	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.3198G>A	17.37:g.79219518C>T			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	pfam_AA_transpt_TM	p.P1066	ENST00000374759.3	37	c.3198	CCDS42397.1	17																																																																																			SLC38A10	-	NULL		0.677	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	C	NM_138570		79219518	-1	no_errors	ENST00000374759	ensembl	human	known	70_37	silent	SNP	0.000	T
SLC38A10	124565	genome.wustl.edu	37	17	79219761	79219761	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:79219761C>T	ENST00000374759.3	-	16	3338	c.2955G>A	c.(2953-2955)atG>atA	p.M985I		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	985					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGGCCTTTCTCATCTCCAGGT	0.687																																																	0													24.0	28.0	27.0					17																	79219761		1937	4116	6053	SO:0001583	missense	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2955G>A	17.37:g.79219761C>T	ENSP00000363891:p.Met985Ile		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.M985I	ENST00000374759.3	37	c.2955	CCDS42397.1	17	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072617	0.01918	.	.	ENSG00000157637	ENST00000374759	T	0.07444	3.19	4.23	-8.46	0.00942	.	.	.	.	.	T	0.05181	0.0138	L	0.29908	0.895	0.09310	N	1	B	0.20164	0.042	B	0.11329	0.006	T	0.33854	-0.9852	9	0.21540	T	0.41	.	11.0019	0.47611	0.0:0.1643:0.3771:0.4586	.	985	Q9HBR0	S38AA_HUMAN	I	985	ENSP00000363891:M985I	ENSP00000363891:M985I	M	-	3	0	SLC38A10	76834356	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-2.600000	0.00892	-2.733000	0.00383	-0.373000	0.07131	ATG	SLC38A10	-	NULL		0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	C	NM_138570		79219761	-1	no_errors	ENST00000374759	ensembl	human	known	70_37	missense	SNP	0.000	T
SLC38A10	124565	genome.wustl.edu	37	17	79244820	79244820	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:79244820C>G	ENST00000374759.3	-	10	1412	c.1029G>C	c.(1027-1029)gaG>gaC	p.E343D	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.E343D	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	343					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGGATGGTCTCCACTAGGA	0.582																																																	0													71.0	63.0	66.0					17																	79244820		2203	4300	6503	SO:0001583	missense	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1029G>C	17.37:g.79244820C>G	ENSP00000363891:p.Glu343Asp		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.E343D	ENST00000374759.3	37	c.1029	CCDS42397.1	17	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839006	0.71373	.	.	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.02197	4.4;4.4	5.07	1.92	0.25849	.	0.280600	0.32068	N	0.006624	T	0.07999	0.0200	L	0.56769	1.78	0.53688	D	0.999977	D;D	0.89917	0.985;1.0	P;D	0.79108	0.891;0.992	T	0.03374	-1.1043	10	0.54805	T	0.06	-35.3452	9.4059	0.38462	0.0:0.6759:0.0:0.3241	.	343;343	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	D	343	ENSP00000363891:E343D;ENSP00000288439:E343D	ENSP00000288439:E343D	E	-	3	2	SLC38A10	76859415	1.000000	0.71417	0.993000	0.49108	0.917000	0.54804	1.287000	0.33284	0.237000	0.21200	0.563000	0.77884	GAG	SLC38A10	-	pfam_AA_transpt_TM		0.582	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	C	NM_138570		79244820	-1	no_errors	ENST00000374759	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC43A3	29015	genome.wustl.edu	37	11	57175269	57175269	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:57175269G>C	ENST00000395123.2	-	14	1776	c.1472C>G	c.(1471-1473)gCa>gGa	p.A491G	SLC43A3_ENST00000529554.1_Missense_Mutation_p.A491G|SLC43A3_ENST00000352187.1_Missense_Mutation_p.A491G|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000533524.1_Missense_Mutation_p.A504G|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A491G	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	491					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TCTGAACTATGCAATTGCAGA	0.478																																																	0													104.0	89.0	94.0					11																	57175269		2201	4296	6497	SO:0001583	missense	29015			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1472C>G	11.37:g.57175269G>C	ENSP00000378555:p.Ala491Gly		B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.A491G	ENST00000395123.2	37	c.1472	CCDS7956.1	11	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465730	0.43839	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	T;T;T;T;T	0.33438	1.42;1.42;1.42;1.42;1.41	4.24	-1.26	0.09376	.	1.257740	0.05798	N	0.611608	T	0.25158	0.0611	L	0.54323	1.7	0.09310	N	1	B;B	0.29432	0.244;0.244	B;B	0.24006	0.05;0.05	T	0.31364	-0.9946	10	0.54805	T	0.06	.	3.388	0.07278	0.4539:0.0:0.3607:0.1854	.	504;491	E7EQD2;Q8NBI5	.;S43A3_HUMAN	G	491;491;491;491;504	ENSP00000378555:A491G;ENSP00000378556:A491G;ENSP00000337561:A491G;ENSP00000436254:A491G;ENSP00000434515:A504G	ENSP00000337561:A491G	A	-	2	0	SLC43A3	56931845	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-0.129000	0.11620	-0.140000	0.14226	GCA	SLC43A3	-	NULL		0.478	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC43A3	HGNC	protein_coding	OTTHUMT00000393057.1	G	NM_017611		57175269	-1	no_errors	ENST00000352187	ensembl	human	known	70_37	missense	SNP	0.000	C
SLC6A1	6529	genome.wustl.edu	37	3	11061998	11061998	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:11061998G>C	ENST00000287766.4	+	6	992	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Missense_Mutation_p.E13Q	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	191					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CGCTGTGGTGGAGTTCTGGGA	0.602																																																	0													108.0	75.0	86.0					3																	11061998		2203	4300	6503	SO:0001583	missense	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.571G>C	3.37:g.11061998G>C	ENSP00000287766:p.Glu191Gln		Q8N4K8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1	p.E191Q	ENST00000287766.4	37	c.571	CCDS2603.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452866	0.84209	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.77358	-1.09;-1.09	5.04	5.04	0.67666	.	0.071988	0.56097	D	0.000023	D	0.86908	0.6046	M	0.78916	2.43	0.80722	D	1	D	0.63880	0.993	P	0.60541	0.876	D	0.87585	0.2487	10	0.52906	T	0.07	.	18.1744	0.89757	0.0:0.0:1.0:0.0	.	191	P30531	SC6A1_HUMAN	Q	191;13	ENSP00000287766:E191Q;ENSP00000445171:E13Q	ENSP00000287766:E191Q	E	+	1	0	SLC6A1	11036998	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.519000	0.98025	2.619000	0.88677	0.561000	0.74099	GAG	SLC6A1	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.602	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	HGNC	protein_coding	OTTHUMT00000102767.2	G	NM_003042		11061998	+1	no_errors	ENST00000287766	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC6A2	6530	genome.wustl.edu	37	16	55734065	55734065	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:55734065C>G	ENST00000379906.2	+	12	1860	c.1605C>G	c.(1603-1605)gtC>gtG	p.V535V	SLC6A2_ENST00000219833.8_Silent_p.V535V|SLC6A2_ENST00000567238.1_Silent_p.V430V|SLC6A2_ENST00000561820.1_Silent_p.V535V|SLC6A2_ENST00000568943.1_Silent_p.V535V|SLC6A2_ENST00000566163.1_Silent_p.V490V|SLC6A2_ENST00000414754.3_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	535					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGTTGTGGTCAGCATCATCA	0.547																																																	0													124.0	100.0	108.0					16																	55734065		2198	4300	6498	SO:0001819	synonymous_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1605C>G	16.37:g.55734065C>G			B2R707|B4DX48|Q96KH8	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.V535	ENST00000379906.2	37	c.1605	CCDS10754.1	16																																																																																			SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.547	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	C			55734065	+1	no_errors	ENST00000219833	ensembl	human	known	70_37	silent	SNP	1.000	G
SLC7A14	57709	genome.wustl.edu	37	3	170184915	170184915	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:170184915C>T	ENST00000231706.5	-	8	2559	c.2244G>A	c.(2242-2244)aaG>aaA	p.K748K	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	748					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGCTTTTGCTCTTCGCTTTGC	0.488																																																	0													159.0	135.0	143.0					3																	170184915		2203	4300	6503	SO:0001819	synonymous_variant	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2244G>A	3.37:g.170184915C>T			B3KV33|Q9HCF9	Silent	SNP	pfam_AA-permease_dom	p.K748	ENST00000231706.5	37	c.2244	CCDS33892.1	3																																																																																			SLC7A14	-	NULL		0.488	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	C	NM_020949		170184915	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	silent	SNP	1.000	T
SMAD1	4086	genome.wustl.edu	37	4	146436153	146436153	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:146436153G>T	ENST00000515385.1	+	2	930	c.388G>T	c.(388-390)Gta>Tta	p.V130L	SMAD1_ENST00000302085.4_Missense_Mutation_p.V130L|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000394092.2_Missense_Mutation_p.V130L			Q15797	SMAD1_HUMAN	SMAD family member 1	130	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CTATAAGAGAGTAGAAAGCCC	0.413																																					Pancreas(182;1287 2092 10326 35158 50562)												0													180.0	183.0	182.0					4																	146436153		2203	4300	6503	SO:0001583	missense	4086			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.388G>T	4.37:g.146436153G>T	ENSP00000426568:p.Val130Leu		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.V130L	ENST00000515385.1	37	c.388	CCDS3765.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733419	0.89482	.	.	ENSG00000170365	ENST00000302085;ENST00000512019;ENST00000394092;ENST00000515385	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.3	5.3	0.74995	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	L	0.45422	1.42	0.80722	D	1	B;P	0.50617	0.027;0.937	B;P	0.55345	0.017;0.774	T	0.79408	-0.1816	9	.	.	.	.	19.3243	0.94254	0.0:0.0:1.0:0.0	.	130;130	D6RD62;Q15797	.;SMAD1_HUMAN	L	130	ENSP00000305769:V130L;ENSP00000427002:V130L;ENSP00000377652:V130L;ENSP00000426568:V130L	.	V	+	1	0	SMAD1	146655603	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	9.869000	0.99810	2.627000	0.88993	0.655000	0.94253	GTA	SMAD1	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.413	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD1	HGNC	protein_coding	OTTHUMT00000365467.1	G	NM_005900		146436153	+1	no_errors	ENST00000302085	ensembl	human	known	70_37	missense	SNP	1.000	T
SMAD5	4090	genome.wustl.edu	37	5	135513164	135513164	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:135513164C>T	ENST00000545279.1	+	9	1751	c.1391C>T	c.(1390-1392)tCa>tTa	p.S464L	SMAD5_ENST00000545620.1_Missense_Mutation_p.S464L|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	465	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTTCTGTTTCATAATGCAGA	0.383																																																	0													68.0	70.0	69.0					5																	135513164		2013	4235	6248	SO:0001583	missense	4090			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.1391C>T	5.37:g.135513164C>T	ENSP00000441954:p.Ser464Leu		O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S464L	ENST00000545279.1	37	c.1391		5	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796429	0.70567	.	.	ENSG00000113658	ENST00000545279;ENST00000545620	D;D	0.95238	-3.65;-3.65	5.74	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.97161	0.9072	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.97739	1.0207	9	0.87932	D	0	.	14.7325	0.69393	0.0:0.9307:0.0:0.0693	.	464	F5GWU7	.	L	464	ENSP00000441954:S464L;ENSP00000446474:S464L	ENSP00000441954:S464L	S	+	2	0	SMAD5	135541063	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	7.818000	0.86416	1.448000	0.47680	-0.229000	0.12294	TCA	SMAD5	-	pfscan_SMAD_dom_Dwarfin-type		0.383	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	SMAD5	HGNC	protein_coding		C	NM_005903		135513164	+1	no_errors	ENST00000545279	ensembl	human	known	70_37	missense	SNP	1.000	T
SMARCD2	6603	genome.wustl.edu	37	17	61914582	61914582	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:61914582C>G	ENST00000448276.2	-	3	682	c.417G>C	c.(415-417)aaG>aaC	p.K139N	SMARCD2_ENST00000225742.9_Missense_Mutation_p.K64N|RN7SL805P_ENST00000581353.1_RNA|SMARCD2_ENST00000323347.10_Missense_Mutation_p.K91N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	139					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TATCTGCCATCTTCCTCCTCT	0.542																																																	0													56.0	54.0	55.0					17																	61914582		1927	4139	6066	SO:0001583	missense	6603			U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.417G>C	17.37:g.61914582C>G	ENSP00000392617:p.Lys139Asn		A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.K139N	ENST00000448276.2	37	c.417	CCDS45756.1	17	.	.	.	.	.	.	.	.	.	.	.	13.73	2.325186	0.41197	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.48836	0.8;0.8	5.36	5.36	0.76844	.	0.042152	0.85682	D	0.000000	T	0.71434	0.3339	M	0.83603	2.65	0.80722	D	1	D;P;D	0.76494	0.999;0.923;0.986	D;P;P	0.78314	0.991;0.649;0.764	T	0.74945	-0.3491	10	0.72032	D	0.01	-0.0423	16.6237	0.84936	0.0:1.0:0.0:0.0	.	91;102;139	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	N	139;81;102;91	ENSP00000392617:K139N;ENSP00000318451:K91N	ENSP00000225742:K81N	K	-	3	2	SMARCD2	59268314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.929000	0.48916	2.797000	0.96272	0.561000	0.74099	AAG	SMARCD2	-	NULL		0.542	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD2	HGNC	protein_coding	OTTHUMT00000444544.1	C	NM_001098426		61914582	-1	no_errors	ENST00000448276	ensembl	human	known	70_37	missense	SNP	1.000	G
SMC1A	8243	genome.wustl.edu	37	X	53439973	53439973	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:53439973G>C	ENST00000322213.4	-	5	858	c.731C>G	c.(730-732)tCa>tGa	p.S244*	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	244					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						cttgttcttTGAGGCCAGTTC	0.488																																																	0													148.0	113.0	124.0					X																	53439973		2203	4300	6503	SO:0001587	stop_gained	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.731C>G	X.37:g.53439973G>C	ENSP00000323421:p.Ser244*		O14995|Q16351|Q2M228	Nonsense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.S244*	ENST00000322213.4	37	c.731	CCDS14352.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.06|14.06	2.423736|2.423736	0.43020|0.43020	.|.	.|.	ENSG00000072501|ENSG00000072501	ENST00000428014|ENST00000322213	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	.|0.528673	.|0.19743	.|N	.|0.107069	T|.	0.58652|.	0.2137|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55829|.	-0.8079|.	4|.	.|0.33940	.|T	.|0.23	.|.	9.3059|9.3059	0.37874|0.37874	0.106:0.0:0.894:0.0|0.106:0.0:0.894:0.0	.|.	.|.	.|.	.|.	E|X	249|244	.|.	.|ENSP00000323421:S244X	Q|S	-|-	1|2	0|0	SMC1A|SMC1A	53456698|53456698	0.673000|0.673000	0.27539|0.27539	0.999000|0.999000	0.59377|0.59377	0.722000|0.722000	0.41435|0.41435	2.634000|2.634000	0.46528|0.46528	1.941000|1.941000	0.56285|0.56285	0.436000|0.436000	0.28706|0.28706	CAA|TCA	SMC1A	-	pfam_RecF/RecN/SMC,prints_Tropomyosin		0.488	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	G	NM_006306		53439973	-1	no_errors	ENST00000322213	ensembl	human	known	70_37	nonsense	SNP	0.977	C
SMG1	23049	genome.wustl.edu	37	16	18826931	18826931	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:18826931C>T	ENST00000446231.2	-	59	10757	c.10345G>A	c.(10345-10347)Gag>Aag	p.E3449K	SMG1_ENST00000389467.3_Missense_Mutation_p.E3450K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3449					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACACTGTTCTCATAGGGAACA	0.358																																																	0													91.0	84.0	86.0					16																	18826931		1880	4112	5992	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10345G>A	16.37:g.18826931C>T	ENSP00000402515:p.Glu3449Lys		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E3450K	ENST00000446231.2	37	c.10348	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663546	0.88251	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01106	5.33;5.33	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000003	T	0.01835	0.0058	L	0.36672	1.1	0.53688	D	0.99997	P	0.40970	0.734	B	0.37731	0.257	T	0.67948	-0.5538	10	0.51188	T	0.08	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	3449	Q96Q15	SMG1_HUMAN	K	3449;3450	ENSP00000402515:E3449K;ENSP00000374118:E3450K	ENSP00000374118:E3450K	E	-	1	0	SMG1	18734432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	GAG	SMG1	-	NULL		0.358	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	C	NM_015092		18826931	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	T
SMG1	23049	genome.wustl.edu	37	16	18860627	18860627	+	Silent	SNP	G	G	C	rs375991428		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:18860627G>C	ENST00000446231.2	-	36	5947	c.5535C>G	c.(5533-5535)ctC>ctG	p.L1845L	SMG1_ENST00000389467.3_Silent_p.L1845L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1845	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCACACGGCAGAGAAGGTTAC	0.438																																																	0								G		1,3779		0,1,1889	101.0	95.0	97.0		5535	-5.0	0.9	16		97	0,8214		0,0,4107	no	coding-synonymous	SMG1	NM_015092.4		0,1,5996	CC,CG,GG		0.0,0.0265,0.0083		1845/3662	18860627	1,11993	1890	4107	5997	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5535C>G	16.37:g.18860627G>C			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1845	ENST00000446231.2	37	c.5535	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT		0.438	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18860627	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	0.965	C
SMG1	23049	genome.wustl.edu	37	16	18881956	18881956	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:18881956G>C	ENST00000446231.2	-	18	2880	c.2468C>G	c.(2467-2469)tCa>tGa	p.S823*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.S823*|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	823	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAAAGGAATTGATTTCAACAG	0.383																																																	0													21.0	19.0	20.0					16																	18881956		1837	4087	5924	SO:0001587	stop_gained	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2468C>G	16.37:g.18881956G>C	ENSP00000402515:p.Ser823*		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S823*	ENST00000446231.2	37	c.2468	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.500686	0.98322	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.79	5.79	0.91817	.	0.000000	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	20.0341	0.97551	0.0:0.0:1.0:0.0	.	.	.	.	X	823	.	ENSP00000374118:S823X	S	-	2	0	SMG1	18789457	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.996000	0.76263	2.753000	0.94483	0.555000	0.69702	TCA	SMG1	-	superfamily_ARM-type_fold		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18881956	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	nonsense	SNP	1.000	C
SMG5	23381	genome.wustl.edu	37	1	156238096	156238096	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:156238096G>C	ENST00000361813.5	-	8	968	c.824C>G	c.(823-825)tCt>tGt	p.S275C	SMG5_ENST00000368267.5_Missense_Mutation_p.S275C|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	275					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.S275F(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTTGCCAGGAGACAGTTTCCG	0.527																																																	1	Substitution - Missense(1)	breast(1)											265.0	261.0	262.0					1																	156238096		2203	4300	6503	SO:0001583	missense	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.824C>G	1.37:g.156238096G>C	ENSP00000355261:p.Ser275Cys		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.S275C	ENST00000361813.5	37	c.824	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400016	0.62177	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.32988	1.43;1.43	6.02	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	L	0.47190	1.495	0.53005	D	0.999961	D	0.76494	0.999	D	0.74674	0.984	T	0.07654	-1.0761	10	0.59425	D	0.04	-21.6628	13.4621	0.61233	0.0751:0.0:0.9249:0.0	.	275	Q9UPR3	SMG5_HUMAN	C	275	ENSP00000355261:S275C;ENSP00000357250:S275C	ENSP00000355261:S275C	S	-	2	0	SMG5	154504720	1.000000	0.71417	0.594000	0.28785	0.354000	0.29330	7.588000	0.82629	2.865000	0.98341	0.655000	0.94253	TCT	SMG5	-	NULL		0.527	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	G	NM_015327		156238096	-1	no_errors	ENST00000361813	ensembl	human	known	70_37	missense	SNP	0.994	C
SMYD1	150572	genome.wustl.edu	37	2	88409911	88409911	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:88409911C>T	ENST00000419482.2	+	10	1438	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.F438F	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	451					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TACGCATGTTCCGCCAGAACG	0.572																																																	0													86.0	67.0	74.0					2																	88409911		2203	4300	6503	SO:0001819	synonymous_variant	150572			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1353C>T	2.37:g.88409911C>T			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.F451	ENST00000419482.2	37	c.1353	CCDS33240.1	2																																																																																			SMYD1	-	NULL		0.572	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	C	XM_097915		88409911	+1	no_errors	ENST00000419482	ensembl	human	known	70_37	silent	SNP	1.000	T
SMPD4	55627	genome.wustl.edu	37	2	130910400	130910400	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:130910400G>C	ENST00000409031.1	-	20	3477	c.2329C>G	c.(2329-2331)Cgc>Ggc	p.R777G	SMPD4_ENST00000443958.2_Missense_Mutation_p.R441G|SMPD4_ENST00000452225.2_Missense_Mutation_p.R518G|SMPD4_ENST00000426662.2_Missense_Mutation_p.R413G|SMPD4_ENST00000453750.1_Missense_Mutation_p.R526G|SMPD4_ENST00000339679.7_Missense_Mutation_p.R635G|SMPD4_ENST00000431183.2_Missense_Mutation_p.R675G|SMPD4_ENST00000351288.6_Missense_Mutation_p.R748G	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	738					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AGGTGGTAGCGACAGAAGCTG	0.672																																																	0													17.0	19.0	18.0					2																	130910400		2195	4282	6477	SO:0001583	missense	55627			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2329C>G	2.37:g.130910400G>C	ENSP00000386531:p.Arg777Gly		B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	NULL	p.R777G	ENST00000409031.1	37	c.2329	CCDS42751.1	2	.	.	.	.	.	.	.	.	.	.	.	19.65	3.868175	0.72065	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039	.	.	.	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.78761	0.4334	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;0.999;0.999;1.0;0.997;0.997;0.999;0.997;0.999	D;D;D;D;D;P;D;D;D;D	0.87578	0.96;0.95;0.972;0.958;0.998;0.834;0.953;0.971;0.986;0.978	T	0.81466	-0.0920	9	0.54805	T	0.06	.	13.7784	0.63069	0.0:0.0:1.0:0.0	.	413;518;675;635;526;709;738;777;784;309	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.	G	748;777;675;526;441;635;518;413;287	.	ENSP00000339721:R635G	R	-	1	0	SMPD4	130626870	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	3.503000	0.53340	1.797000	0.52628	0.455000	0.32223	CGC	SMPD4	-	NULL		0.672	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD4	HGNC	protein_coding	OTTHUMT00000254516.3	G	NM_017751		130910400	-1	no_errors	ENST00000409031	ensembl	human	known	70_37	missense	SNP	1.000	C
SNCG	6623	genome.wustl.edu	37	10	88719792	88719792	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:88719792G>A	ENST00000372017.3	+	3	240	c.198G>A	c.(196-198)gtG>gtA	p.V66V	SNCG_ENST00000483064.1_3'UTR|MMRN2_ENST00000372027.5_5'Flank|SNCG_ENST00000348795.4_Missense_Mutation_p.E84K	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	66	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).				adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						CCAACGCCGTGAGCGAGGCTG	0.672																																																	0													90.0	71.0	77.0					10																	88719792		2203	4299	6502	SO:0001819	synonymous_variant	6623			AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"""synoretin"""	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.198G>A	10.37:g.88719792G>A			O15104|Q96P61	Missense_Mutation	SNP	pfam_Synuclein,prints_Synuclein	p.E84K	ENST00000372017.3	37	c.250	CCDS7380.1	10	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141023	0.37825	.	.	ENSG00000173267	ENST00000348795	D	0.88124	-2.34	4.93	0.425	0.16473	.	.	.	.	.	D	0.89368	0.6695	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87891	0.2684	6	0.87932	D	0	-2.2336	10.3679	0.44035	0.0844:0.5153:0.4002:0.0	.	.	.	.	K	84	ENSP00000344658:E84K	ENSP00000344658:E84K	E	+	1	0	SNCG	88709772	1.000000	0.71417	0.891000	0.34965	0.663000	0.39108	0.835000	0.27531	0.215000	0.20761	0.561000	0.74099	GAG	SNCG	-	NULL		0.672	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCG	HGNC	protein_coding	OTTHUMT00000049167.1	G			88719792	+1	no_errors	ENST00000348795	ensembl	human	known	70_37	missense	SNP	0.989	A
SND1	27044	genome.wustl.edu	37	7	127326700	127326700	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:127326700C>G	ENST00000354725.3	+	2	306	c.112C>G	c.(112-114)Cag>Gag	p.Q38E		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	38	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TGTCCGAGGTCAGCCTCGTGG	0.557																																																	0													100.0	91.0	94.0					7																	127326700		2203	4300	6503	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.112C>G	7.37:g.127326700C>G	ENSP00000346762:p.Gln38Glu		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.Q38E	ENST00000354725.3	37	c.112	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984867	0.74474	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.29397	1.57	5.77	4.9	0.64082	Staphylococcal nuclease (SNase-like) (3);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	L	0.42632	1.34	0.58432	D	0.999999	B	0.32653	0.379	B	0.36335	0.222	T	0.02654	-1.1128	10	0.06236	T	0.91	-24.921	12.9435	0.58359	0.0:0.9213:0.0:0.0787	.	38	Q7KZF4	SND1_HUMAN	E	38;28	ENSP00000346762:Q38E	ENSP00000346762:Q38E	Q	+	1	0	SND1	127113936	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.458000	0.80787	1.578000	0.49821	0.655000	0.94253	CAG	SND1	-	superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease		0.557	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	C	NM_014390		127326700	+1	no_errors	ENST00000354725	ensembl	human	known	70_37	missense	SNP	1.000	G
SNED1	25992	genome.wustl.edu	37	2	242004841	242004841	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:242004841C>T	ENST00000310397.8	+	21	2840	c.2840C>T	c.(2839-2841)tCc>tTc	p.S947F	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.S947F|SNED1_ENST00000342631.6_Missense_Mutation_p.S947F|SNED1_ENST00000405547.3_Missense_Mutation_p.S947F	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	947	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ACCTACGTCTCCTCCGACGGC	0.647																																																	0													49.0	59.0	56.0					2																	242004841		2043	4181	6224	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2840C>T	2.37:g.242004841C>T	ENSP00000308893:p.Ser947Phe		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.S947F	ENST00000310397.8	37	c.2840	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021885	0.35701	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.8	3.91	0.45181	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.119690	0.38058	N	0.001836	T	0.55401	0.1918	L	0.29908	0.895	0.09310	N	1	D;P;P	0.54964	0.969;0.863;0.955	P;P;P	0.53224	0.6;0.548;0.721	T	0.50303	-0.8844	10	0.59425	D	0.04	.	11.597	0.50979	0.0:0.9153:0.0:0.0847	.	947;947;947	Q8TER0-5;B5MEF5;Q8TER0	.;.;SNED1_HUMAN	F	947	ENSP00000384871:S947F;ENSP00000386007:S947F;ENSP00000308893:S947F;ENSP00000342992:S947F	ENSP00000308893:S947F	S	+	2	0	SNED1	241653514	0.334000	0.24739	0.002000	0.10522	0.051000	0.14879	4.001000	0.57046	1.000000	0.39049	0.655000	0.94253	TCC	SNED1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	C	XM_059482		242004841	+1	no_errors	ENST00000310397	ensembl	human	known	70_37	missense	SNP	0.047	T
CD68	968	genome.wustl.edu	37	17	7482445	7482445	+	5'Flank	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:7482445G>C	ENST00000250092.6	+	0	0				SENP3-EIF4A1_ENST00000579777.1_RNA|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000572046.1_RNA|SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000417897.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule						cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						GTCACCATCTGAGTTCTCAGA	0.557																																																	0																																										SO:0001631	upstream_gene_variant	26781			S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146		17.37:g.7482445G>C	Exception_encountered		B4DVT4|Q53HR6|Q53XI3|Q96BI7	RNA	SNP	-	NULL	ENST00000250092.6	37	NULL	CCDS11114.1	17																																																																																			RP11-186B7.4	-	-		0.557	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA67	Clone_based_vega_gene	protein_coding	OTTHUMT00000226949.3	G	NM_001251		7482445	+1	no_errors	ENST00000581621	ensembl	human	known	70_37	rna	SNP	0.001	C
SNX17	9784	genome.wustl.edu	37	2	27597275	27597275	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:27597275G>C	ENST00000233575.2	+	7	808	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR|SNX17_ENST00000537606.1_Missense_Mutation_p.E171Q	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	196	FERM-like.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGAGTCAAGAGTATAAGAT	0.458																																																	0													72.0	80.0	77.0					2																	27597275		2203	4300	6503	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.586G>C	2.37:g.27597275G>C	ENSP00000233575:p.Glu196Gln		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.E196Q	ENST00000233575.2	37	c.586	CCDS1750.1	2	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687299	0.48097	.	.	ENSG00000115234	ENST00000233575;ENST00000537606	T;T	0.76060	-0.99;-0.99	5.01	5.01	0.66863	Ras-association (1);	0.097715	0.64402	D	0.000001	T	0.54695	0.1874	N	0.19112	0.55	0.80722	D	1	P;B;B;P	0.38335	0.557;0.396;0.396;0.627	B;B;B;B	0.29663	0.062;0.074;0.047;0.105	T	0.56329	-0.7997	10	0.14252	T	0.57	-16.6825	15.1475	0.72667	0.0:0.0:1.0:0.0	.	171;184;176;196	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	Q	196;171	ENSP00000233575:E196Q;ENSP00000439208:E171Q	ENSP00000233575:E196Q	E	+	1	0	SNX17	27450779	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.260000	0.89857	2.607000	0.88179	0.561000	0.74099	GAG	SNX17	-	pfscan_Ras-assoc		0.458	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	HGNC	protein_coding	OTTHUMT00000215024.1	G	NM_014748		27597275	+1	no_errors	ENST00000233575	ensembl	human	known	70_37	missense	SNP	1.000	C
SNX20	124460	genome.wustl.edu	37	16	50707416	50707416	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:50707416G>A	ENST00000330943.4	-	4	1023	c.852C>T	c.(850-852)ttC>ttT	p.F284F	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	284					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GCAGAGTCACGAAGTCCTTGC	0.672																																																	0													37.0	39.0	38.0					16																	50707416		2196	4297	6493	SO:0001819	synonymous_variant	124460			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.852C>T	16.37:g.50707416G>A			A8K9D5|Q08E98|Q6P4H2|Q8IV59	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.F284	ENST00000330943.4	37	c.852	CCDS10745.1	16																																																																																			SNX20	-	NULL		0.672	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	G	NM_153337		50707416	-1	no_errors	ENST00000330943	ensembl	human	known	70_37	silent	SNP	0.979	A
SNX25	83891	genome.wustl.edu	37	4	186244913	186244913	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:186244913G>C	ENST00000504273.1	+	9	1510	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.E406Q			Q9H3E2	SNX25_HUMAN	sorting nexin 25	406					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AAAAGAGGAAGAAAAACATGC	0.343																																																	0													56.0	53.0	54.0					4																	186244913		2203	4298	6501	SO:0001583	missense	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1216G>C	4.37:g.186244913G>C	ENSP00000426255:p.Glu406Gln		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.E406Q	ENST00000504273.1	37	c.1216	CCDS34116.1	4	.	.	.	.	.	.	.	.	.	.	.	10.19	1.281321	0.23392	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.10192	2.9;2.9	5.81	5.81	0.92471	.	0.301215	0.37437	N	0.002093	T	0.10852	0.0265	L	0.38175	1.15	0.33161	D	0.547043	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.12344	-1.0551	10	0.15499	T	0.54	-5.7141	18.2539	0.90012	0.0:0.0:1.0:0.0	.	177;406	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	Q	406	ENSP00000426255:E406Q;ENSP00000264694:E406Q	ENSP00000264694:E406Q	E	+	1	0	SNX25	186481907	1.000000	0.71417	0.336000	0.25522	0.754000	0.42855	4.315000	0.59172	2.751000	0.94390	0.555000	0.69702	GAA	SNX25	-	NULL		0.343	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	G	NM_031953		186244913	+1	no_errors	ENST00000264694	ensembl	human	known	70_37	missense	SNP	0.957	C
SNX5	27131	genome.wustl.edu	37	20	17930840	17930840	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:17930840C>T	ENST00000377768.3	-	9	1039	c.727G>A	c.(727-729)Gac>Aac	p.D243N	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.D243N	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	243	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TGGATATAGTCATCGGCAACA	0.418																																																	0													98.0	89.0	92.0					20																	17930840		2203	4300	6503	SO:0001583	missense	27131			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.727G>A	20.37:g.17930840C>T	ENSP00000366998:p.Asp243Asn		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.D243N	ENST00000377768.3	37	c.727	CCDS13130.1	20	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736548	0.69304	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.58506	0.33;0.33;1.64;1.86	5.74	5.74	0.90152	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.64997	1.995	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.55192	-0.8179	10	0.08179	T	0.78	-18.4647	20.2825	0.98528	0.0:1.0:0.0:0.0	.	264;243	B7Z476;Q9Y5X3	.;SNX5_HUMAN	N	243;243;206;208	ENSP00000366998:D243N;ENSP00000366988:D243N;ENSP00000404448:D206N;ENSP00000406731:D208N	ENSP00000366988:D243N	D	-	1	0	SNX5	17878840	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.446000	0.80609	2.873000	0.98535	0.561000	0.74099	GAC	SNX5	-	pfam_Vps5_C,pirsf_Snx5_Snx6		0.418	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX5	HGNC	protein_coding	OTTHUMT00000078137.4	C			17930840	-1	no_errors	ENST00000377759	ensembl	human	known	70_37	missense	SNP	1.000	T
SOCS5	9655	genome.wustl.edu	37	2	46986242	46986242	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:46986242G>C	ENST00000306503.5	+	2	745	c.573G>C	c.(571-573)atG>atC	p.M191I	SOCS5_ENST00000394861.2_Missense_Mutation_p.M191I	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	191					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GTTTTCCCATGAGAACTTACA	0.438																																																	0													56.0	56.0	56.0					2																	46986242		2199	4287	6486	SO:0001583	missense	9655			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.573G>C	2.37:g.46986242G>C	ENSP00000305133:p.Met191Ile		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.M191I	ENST00000306503.5	37	c.573	CCDS1830.1	2	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.306936	0.01353	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.23754	1.89;1.89	5.65	4.77	0.60923	.	0.252292	0.46758	N	0.000271	T	0.09379	0.0231	N	0.03608	-0.345	0.38433	D	0.946491	B	0.02656	0.0	B	0.04013	0.001	T	0.15122	-1.0448	10	0.05436	T	0.98	-12.2328	9.7853	0.40673	0.0733:0.1402:0.7865:0.0	.	191	O75159	SOCS5_HUMAN	I	191	ENSP00000305133:M191I;ENSP00000378330:M191I	ENSP00000305133:M191I	M	+	3	0	SOCS5	46839746	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.712000	0.47186	1.630000	0.50440	0.655000	0.94253	ATG	SOCS5	-	pfam_SOCS		0.438	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	G			46986242	+1	no_errors	ENST00000306503	ensembl	human	known	70_37	missense	SNP	1.000	C
SP100	6672	genome.wustl.edu	37	2	231368918	231368918	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:231368918G>A	ENST00000264052.5	+	21	2138	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.D595N|SP100_ENST00000340126.4_Missense_Mutation_p.D595N	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	595	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AATTCCCAAAGATGAAAATAT	0.403																																																	0													108.0	115.0	113.0					2																	231368918		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1783G>A	2.37:g.231368918G>A	ENSP00000264052:p.Asp595Asn		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.D595N	ENST00000264052.5	37	c.1783	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796605	0.50208	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.81163	2.17;-1.46;0.16	4.54	2.7	0.31948	SAND domain-like (2);SAND domain (1);	1.381260	0.05386	N	0.538219	T	0.80065	0.4555	M	0.71581	2.175	0.09310	N	0.999997	P;B;P	0.37038	0.524;0.45;0.579	B;B;B	0.39738	0.171;0.224;0.308	T	0.63897	-0.6533	10	0.35671	T	0.21	.	5.6238	0.17470	0.0992:0.0:0.7071:0.1937	.	595;595;595	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	N	595;595;595;78	ENSP00000264052:D595N;ENSP00000386427:D595N;ENSP00000343023:D595N	ENSP00000264052:D595N	D	+	1	0	SP100	231077162	0.021000	0.18746	0.007000	0.13788	0.070000	0.16714	0.781000	0.26774	0.813000	0.34350	0.655000	0.94253	GAT	SP100	-	superfamily_SAND_dom-like,pfscan_SAND_dom		0.403	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	G	NM_003113		231368918	+1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.009	A
SP100	6672	genome.wustl.edu	37	2	231368920	231368920	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:231368920T>A	ENST00000264052.5	+	21	2140	c.1785T>A	c.(1783-1785)gaT>gaA	p.D595E	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.D595E|SP100_ENST00000340126.4_Missense_Mutation_p.D595E	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	595	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTCCCAAAGATGAAAATATTA	0.408																																																	0													108.0	116.0	114.0					2																	231368920		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1785T>A	2.37:g.231368920T>A	ENSP00000264052:p.Asp595Glu		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.D595E	ENST00000264052.5	37	c.1785	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	T	15.57	2.871652	0.51695	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.80480	2.25;-1.38;0.24	4.54	-9.07	0.00724	SAND domain-like (2);SAND domain (1);	1.381260	0.05386	N	0.538219	T	0.71341	0.3328	L	0.58669	1.825	0.09310	N	1	B;B;B	0.28291	0.08;0.129;0.206	B;B;B	0.33568	0.084;0.103;0.166	T	0.56251	-0.8010	10	0.22109	T	0.4	.	5.5651	0.17167	0.3157:0.3791:0.0:0.3052	.	595;595;595	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	E	595;595;595;78	ENSP00000264052:D595E;ENSP00000386427:D595E;ENSP00000343023:D595E	ENSP00000264052:D595E	D	+	3	2	SP100	231077164	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.785000	0.01767	-1.793000	0.01258	0.533000	0.62120	GAT	SP100	-	superfamily_SAND_dom-like,pfscan_SAND_dom		0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	T	NM_003113		231368920	+1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.000	A
SP140	11262	genome.wustl.edu	37	2	231115695	231115695	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:231115695G>A	ENST00000392045.3	+	10	1090		c.e10-1		SP140_ENST00000417495.3_Intron|SP140_ENST00000350136.5_Intron|SP140_ENST00000486687.2_Splice_Site|SP140_ENST00000420434.3_Splice_Site|SP140_ENST00000343805.6_Splice_Site	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein						defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTTTCTGCAGAGGGCAGTGA	0.478																																																	0													83.0	77.0	79.0					2																	231115695		1857	4097	5954	SO:0001630	splice_region_variant	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.977-1G>A	2.37:g.231115695G>A			E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Splice_Site	SNP	-	e10-1	ENST00000392045.3	37	c.977-1	CCDS42831.1	2	.	.	.	.	.	.	.	.	.	.	G	9.132	1.011536	0.19277	.	.	ENSG00000079263	ENST00000486687;ENST00000392044;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	.	.	.	2.71	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.52099	D	0.999943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1036	0.36685	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SP140	230823939	0.877000	0.30153	0.525000	0.27900	0.022000	0.10575	1.966000	0.40481	1.843000	0.53566	0.542000	0.68232	.	SP140	-	-		0.478	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	HGNC	protein_coding	OTTHUMT00000332015.1	G	NM_007237	Intron	231115695	+1	no_errors	ENST00000392045	ensembl	human	known	70_37	splice_site	SNP	0.552	A
SP100	6672	genome.wustl.edu	37	2	231368945	231368945	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:231368945G>A	ENST00000264052.5	+	21	2165	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.E604K|SP100_ENST00000340126.4_Missense_Mutation_p.E604K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	604	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAAACAATCTGAACTTCCTGT	0.383																																																	0													146.0	152.0	150.0					2																	231368945		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1810G>A	2.37:g.231368945G>A	ENSP00000264052:p.Glu604Lys		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.E604K	ENST00000264052.5	37	c.1810	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833335	0.32421	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.71698	-0.59;-0.59;-0.59	4.54	-3.82	0.04281	SAND domain-like (2);SAND domain (3);	2.167940	0.02547	N	0.095241	T	0.60625	0.2283	L	0.45051	1.395	0.09310	N	1	B;B;B	0.18610	0.024;0.018;0.029	B;B;B	0.25506	0.017;0.039;0.061	T	0.38308	-0.9667	10	0.21540	T	0.41	.	7.0844	0.25249	0.2693:0.5101:0.2205:0.0	.	604;604;604	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	K	604;604;604;87	ENSP00000264052:E604K;ENSP00000386427:E604K;ENSP00000343023:E604K	ENSP00000264052:E604K	E	+	1	0	SP100	231077189	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.058000	0.03482	-0.793000	0.04475	-0.947000	0.02670	GAA	SP100	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom		0.383	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	G	NM_003113		231368945	+1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.000	A
SPAG1	6674	genome.wustl.edu	37	8	101178126	101178126	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:101178126G>A	ENST00000388798.2	+	3	416	c.225G>A	c.(223-225)ttG>ttA	p.L75L	SPAG1_ENST00000520508.1_Silent_p.L75L|SPAG1_ENST00000251809.3_Silent_p.L75L|SPAG1_ENST00000520643.1_Silent_p.L75L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	75					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.L75L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GCAGAGCTTTGAGGAAAGATA	0.363																																																	1	Substitution - coding silent(1)	lung(1)											67.0	68.0	67.0					8																	101178126		2203	4300	6503	SO:0001819	synonymous_variant	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.225G>A	8.37:g.101178126G>A			A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L75	ENST00000388798.2	37	c.225	CCDS34930.1	8																																																																																			SPAG1	-	NULL		0.363	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	G	NM_172218		101178126	+1	no_errors	ENST00000251809	ensembl	human	known	70_37	silent	SNP	1.000	A
SPAG1	6674	genome.wustl.edu	37	8	101178133	101178133	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:101178133G>C	ENST00000388798.2	+	3	423	c.232G>C	c.(232-234)Gat>Cat	p.D78H	SPAG1_ENST00000520508.1_Missense_Mutation_p.D78H|SPAG1_ENST00000251809.3_Missense_Mutation_p.D78H|SPAG1_ENST00000520643.1_Missense_Mutation_p.D78H	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	78					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TTTGAGGAAAGATAAACCAGC	0.368																																																	0													69.0	70.0	69.0					8																	101178133		2203	4300	6503	SO:0001583	missense	6674			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.232G>C	8.37:g.101178133G>C	ENSP00000373450:p.Asp78His		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D78H	ENST00000388798.2	37	c.232	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501187	0.85176	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.68	5.68	0.88126	.	0.107337	0.64402	D	0.000008	T	0.43077	0.1231	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.69142	0.927;0.962	T	0.24190	-1.0167	10	0.72032	D	0.01	-20.6197	18.549	0.91057	0.0:0.0:1.0:0.0	.	78;78	Q07617;G3XAM3	SPAG1_HUMAN;.	H	78	ENSP00000427716:D78H;ENSP00000251809:D78H;ENSP00000428070:D78H;ENSP00000373450:D78H	ENSP00000251809:D78H	D	+	1	0	SPAG1	101247309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.410000	0.90225	2.681000	0.91329	0.563000	0.77884	GAT	SPAG1	-	NULL		0.368	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	G	NM_172218		101178133	+1	no_errors	ENST00000251809	ensembl	human	known	70_37	missense	SNP	1.000	C
SPAG17	200162	genome.wustl.edu	37	1	118644438	118644438	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:118644438C>T	ENST00000336338.5	-	5	624	c.559G>A	c.(559-561)Gag>Aag	p.E187K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	187	Lys-rich.					cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCATTTGCCTCAGGCTGATCC	0.493																																																	0													299.0	258.0	272.0					1																	118644438		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.559G>A	1.37:g.118644438C>T	ENSP00000337804:p.Glu187Lys		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.E187K	ENST00000336338.5	37	c.559	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246783	0.59103	.	.	ENSG00000155761	ENST00000336338	T	0.21031	2.03	5.38	5.38	0.77491	.	0.647008	0.15067	N	0.282423	T	0.23611	0.0571	M	0.68952	2.095	0.30313	N	0.788366	P	0.46395	0.877	P	0.49853	0.624	T	0.02676	-1.1125	10	0.59425	D	0.04	.	14.9815	0.71313	0.0:1.0:0.0:0.0	.	187	Q6Q759	SPG17_HUMAN	K	187	ENSP00000337804:E187K	ENSP00000337804:E187K	E	-	1	0	SPAG17	118445961	0.002000	0.14202	0.867000	0.34043	0.027000	0.11550	1.272000	0.33109	2.680000	0.91292	0.650000	0.86243	GAG	SPAG17	-	NULL		0.493	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	C	NM_206996		118644438	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	0.899	T
SPAG5	10615	genome.wustl.edu	37	17	26919672	26919672	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:26919672G>C	ENST00000321765.5	-	3	922	c.590C>G	c.(589-591)tCt>tGt	p.S197C		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	197					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGGGACGGAGATTCCTGAAA	0.498																																																	0													102.0	102.0	102.0					17																	26919672		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.590C>G	17.37:g.26919672G>C	ENSP00000323300:p.Ser197Cys		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.S197C	ENST00000321765.5	37	c.590	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	1.305	-0.603792	0.03717	.	.	ENSG00000076382	ENST00000321765	T	0.24151	1.87	5.7	4.74	0.60224	.	1.072900	0.07160	N	0.850463	T	0.27594	0.0678	N	0.22421	0.69	0.09310	N	1	P	0.36249	0.545	B	0.44133	0.442	T	0.37686	-0.9695	10	0.87932	D	0	0.837	10.4048	0.44249	0.0891:0.0:0.9109:0.0	.	197	Q96R06	SPAG5_HUMAN	C	197	ENSP00000323300:S197C	ENSP00000323300:S197C	S	-	2	0	SPAG5	23943799	0.069000	0.21087	0.008000	0.14137	0.008000	0.06430	2.129000	0.42055	1.391000	0.46566	0.655000	0.94253	TCT	SPAG5	-	NULL		0.498	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	G	NM_006461		26919672	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.018	C
NPR2	4882	genome.wustl.edu	37	9	35811266	35811266	+	IGR	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:35811266C>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_Nonsense_Mutation_p.W257*|SPAG8_ENST00000340291.2_Nonsense_Mutation_p.W259*|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000396638.2_Nonsense_Mutation_p.W259*|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'UTR	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGGGGGTTTCCATAGTCCTC	0.507																																																	0													106.0	126.0	119.0					9																	35811266		2203	4300	6503	SO:0001628	intergenic_variant	26206			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811266C>T			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Nonsense_Mutation	SNP	prints_Antifreeze_1	p.W259*	ENST00000342694.2	37	c.777	CCDS6590.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.909310|2.909310	0.52439|0.52439	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000484764;ENST00000396638	.|.	.|.	.|.	5.41|5.41	3.43|3.43	0.39272|0.39272	.|.	.|1.188910	.|0.05994	.|N	.|0.646543	T|.	0.19208|.	0.0461|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18023|.	-1.0350|.	3|.	.|0.02654	.|T	.|1	1.2736|1.2736	8.471|8.471	0.32986|0.32986	0.1799:0.6589:0.1613:0.0|0.1799:0.6589:0.1613:0.0	.|.	.|.	.|.	.|.	E|X	257|259;257;259	.|.	.|ENSP00000340982:W259X	G|W	-|-	2|3	0|0	SPAG8|SPAG8	35801266|35801266	0.006000|0.006000	0.16342|0.16342	0.127000|0.127000	0.21898|0.21898	0.182000|0.182000	0.23217|0.23217	0.743000|0.743000	0.26231|0.26231	1.465000|1.465000	0.48006|0.48006	0.655000|0.655000	0.94253|0.94253	GGA|TGG	SPAG8	-	NULL		0.507	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG8	HGNC	protein_coding	OTTHUMT00000052345.1	C			35811266	-1	no_errors	ENST00000340291	ensembl	human	known	70_37	nonsense	SNP	0.007	T
NPR2	4882	genome.wustl.edu	37	9	35812148	35812148	+	IGR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:35812148C>G	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_5'UTR|TMEM8B_ENST00000377996.1_5'Flank|SPAG8_ENST00000340291.2_5'UTR|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000396638.2_5'UTR|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCTCCATCTTCAGACTCCAGC	0.612																																																	0													59.0	57.0	58.0					9																	35812148		2203	4300	6503	SO:0001628	intergenic_variant	26206			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35812148C>G			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	RNA	SNP	-	NULL	ENST00000342694.2	37	NULL	CCDS6590.1	9																																																																																			SPAG8	-	-		0.612	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG8	HGNC	protein_coding	OTTHUMT00000052345.1	C			35812148	-1	no_errors	ENST00000463889	ensembl	human	known	70_37	rna	SNP	0.208	G
SPANXN4	441525	genome.wustl.edu	37	X	142113842	142113842	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:142113842G>A	ENST00000446864.1	+	1	139	c.42G>A	c.(40-42)aaG>aaA	p.K14K	SPANXN4_ENST00000370504.3_Silent_p.K14K	NM_001009613.2	NP_001009613.1	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	14										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAAATGAAGAGCCCCTGTG	0.438																																																	0													93.0	87.0	89.0					X																	142113842		2194	4294	6488	SO:0001819	synonymous_variant	441525			DQ336126	CCDS48178.1	Xq27.3	2009-03-25			ENSG00000189326	ENSG00000189326			33177	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 9"""	300667				14973187, 17012309	Standard	NM_001009613		Approved	SPANX-N4, CT11.9	uc004fbv.4	Q5MJ08	OTTHUMG00000022575	ENST00000446864.1:c.42G>A	X.37:g.142113842G>A			Q0ZNK6|Q5W0S6	Silent	SNP	pfam_SPANX_prot	p.K14	ENST00000446864.1	37	c.42	CCDS48178.1	X																																																																																			SPANXN4	-	pfam_SPANX_prot		0.438	SPANXN4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN4	HGNC	protein_coding	OTTHUMT00000377539.1	G	NM_001009613		142113842	+1	no_errors	ENST00000446864	ensembl	human	known	70_37	silent	SNP	0.001	A
SPARCL1	8404	genome.wustl.edu	37	4	88415459	88415459	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:88415459C>G	ENST00000282470.6	-	4	963	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	SPARCL1_ENST00000503414.1_Missense_Mutation_p.E40Q|SPARCL1_ENST00000418378.1_Missense_Mutation_p.E165Q	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	165					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTAGGTTGTTCTTGGTTTTCC	0.393																																																	0													183.0	178.0	180.0					4																	88415459		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.493G>C	4.37:g.88415459C>G	ENSP00000282470:p.Glu165Gln		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.E165Q	ENST00000282470.6	37	c.493	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177724	0.38413	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.29142	2.15;2.15;1.58	4.73	2.98	0.34508	.	0.328980	0.28778	N	0.014177	T	0.20618	0.0496	L	0.32530	0.975	0.27783	N	0.943076	D;D	0.53619	0.961;0.961	B;B	0.40636	0.335;0.335	T	0.10613	-1.0622	10	0.62326	D	0.03	-7.9575	7.1536	0.25624	0.0:0.731:0.1731:0.0959	.	165;165	Q8N4S1;Q14515	.;SPRL1_HUMAN	Q	165;165;40;40	ENSP00000282470:E165Q;ENSP00000414856:E165Q;ENSP00000422903:E40Q	ENSP00000282470:E165Q	E	-	1	0	SPARCL1	88634483	0.995000	0.38212	0.536000	0.28039	0.605000	0.37080	1.339000	0.33885	0.670000	0.31165	0.655000	0.94253	GAA	SPARCL1	-	pirsf_SPARC-like_p1		0.393	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88415459	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	0.821	G
Unknown	0	genome.wustl.edu	37	1	85011415	85011415	+	IGR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:85011415G>C								SPATA1 (18844 upstream) : CTBS (3873 downstream)																							AAAGCTATTTGAACAAAGCAA	0.274																																																	0													54.0	51.0	52.0					1																	85011415		1787	4053	5840	SO:0001628	intergenic_variant	100505741																															1.37:g.85011415G>C				RNA	SNP	-	NULL		37	NULL		1																																																																																			SPATA1	-	-	0	0.274					SPATA1	HGNC			G			85011415	+1	no_errors	ENST00000431031	ensembl	human	known	70_37	rna	SNP	1.000	C
SPDL1	54908	genome.wustl.edu	37	5	169023670	169023670	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:169023670C>G	ENST00000265295.4	+	8	1276	c.997C>G	c.(997-999)Ctt>Gtt	p.L333V		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AATAAAACATCTTTTAGGTGA	0.338																																																	0													62.0	66.0	65.0					5																	169023670		2203	4300	6503	SO:0001583	missense	54908			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.997C>G	5.37:g.169023670C>G	ENSP00000265295:p.Leu333Val			Missense_Mutation	SNP	NULL	p.L333V	ENST00000265295.4	37	c.997	CCDS4370.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.414194|4.414194	0.83449|0.83449	.|.	.|.	ENSG00000040275|ENSG00000040275	ENST00000265295;ENST00000274631|ENST00000505977	T|.	0.56444|.	0.46|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76765|0.76765	0.4033|0.4033	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.996;0.997;0.997|.	T|T	0.74993|0.74993	-0.3474|-0.3474	10|5	0.36615|.	T|.	0.2|.	-8.753|-8.753	19.8077|19.8077	0.96536|0.96536	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	255;234;333|.	B4E393;Q96EA4-2;Q96EA4|.	.;.;SPDLY_HUMAN|.	V|C	333;234|253	ENSP00000265295:L333V|.	ENSP00000265295:L333V|.	L|S	+|+	1|2	0|0	CCDC99|CCDC99	168956248|168956248	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.588000|6.588000	0.74076|0.74076	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	CTT|TCT	SPDL1	-	NULL		0.338	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2	C	NM_017785		169023670	+1	no_errors	ENST00000265295	ensembl	human	known	70_37	missense	SNP	1.000	G
SPEG	10290	genome.wustl.edu	37	2	220354197	220354197	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:220354197C>G	ENST00000312358.7	+	36	8589	c.8457C>G	c.(8455-8457)gtC>gtG	p.V2819V	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2819	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGTCACTGTCAGCCCCTCAT	0.672																																																	0													32.0	35.0	34.0					2																	220354197		1904	4101	6005	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8457C>G	2.37:g.220354197C>G			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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.V2819	ENST00000312358.7	37	c.8457	CCDS42824.1	2																																																																																			SPEG	-	NULL		0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	C	NM_005876		220354197	+1	no_errors	ENST00000312358	ensembl	human	novel	70_37	silent	SNP	0.984	G
SPP2	6694	genome.wustl.edu	37	2	234967524	234967524	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:234967524C>T	ENST00000168148.3	+	3	343	c.255C>T	c.(253-255)ttC>ttT	p.F85F	SPP2_ENST00000373368.1_Silent_p.F85F	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	85					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ATTTAGAGTTCAGCATCCGGG	0.448																																																	0													131.0	117.0	122.0					2																	234967524		2203	4300	6503	SO:0001819	synonymous_variant	6694				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.255C>T	2.37:g.234967524C>T			A4QMV3|Q3B892|Q546M5	Silent	SNP	pfam_Spp-24,pfam_Prot_inh_cystat	p.F85	ENST00000168148.3	37	c.255	CCDS2511.1	2																																																																																			SPP2	-	pfam_Spp-24,pfam_Prot_inh_cystat		0.448	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP2	HGNC	protein_coding	OTTHUMT00000131313.3	C	NM_006944		234967524	+1	no_errors	ENST00000168148	ensembl	human	known	70_37	silent	SNP	0.729	T
SPTAN1	6709	genome.wustl.edu	37	9	131362264	131362264	+	Intron	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:131362264C>T	ENST00000372731.4	+	27	3653				SPTAN1_ENST00000358161.5_Intron|SPTAN1_ENST00000372739.3_Intron	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCTGGGATCTCCCCTGGGGGA	0.413																																					NSCLC(120;833 1744 2558 35612 37579)												0																																										SO:0001627	intron_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3544-95C>T	9.37:g.131362264C>T			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	RNA	SNP	-	NULL	ENST00000372731.4	37	NULL	CCDS6905.1	9																																																																																			SPTAN1	-	-		0.413	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131362264	+1	no_errors	ENST00000461855	ensembl	human	known	70_37	rna	SNP	0.000	T
SPTBN2	6712	genome.wustl.edu	37	11	66475127	66475127	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:66475127G>A	ENST00000533211.1	-	13	1844	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R505W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R505W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	505					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTGTGCTGCCGAGCGGCGATG	0.687																																																	0													39.0	42.0	41.0					11																	66475127		2199	4293	6492	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1513C>T	11.37:g.66475127G>A	ENSP00000432568:p.Arg505Trp		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R505W	ENST00000533211.1	37	c.1513	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939175	0.73557	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.56444	0.46;0.46;0.46	4.47	4.47	0.54385	.	0.070980	0.56097	D	0.000026	T	0.79793	0.4507	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85486	0.1182	10	0.56958	D	0.05	.	16.0833	0.81020	0.0:0.0:1.0:0.0	.	505	O15020	SPTN2_HUMAN	W	505	ENSP00000432568:R505W;ENSP00000311489:R505W;ENSP00000433593:R505W	ENSP00000311489:R505W	R	-	1	2	SPTBN2	66231703	0.505000	0.26131	0.955000	0.39395	0.499000	0.33736	0.727000	0.25999	2.315000	0.78130	0.462000	0.41574	CGG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.687	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	G	NM_006946		66475127	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	missense	SNP	0.997	A
SRBD1	55133	genome.wustl.edu	37	2	45808930	45808930	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:45808930G>A	ENST00000263736.4	-	6	897	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	279					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATTGTACTATGAACTTTCTTT	0.343																																																	0													93.0	92.0	92.0					2																	45808930		2201	4299	6500	SO:0001583	missense	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.835C>T	2.37:g.45808930G>A	ENSP00000263736:p.His279Tyr		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.H279Y	ENST00000263736.4	37	c.835	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	G	0.554	-0.848084	0.02651	.	.	ENSG00000068784	ENST00000263736	T	0.42513	0.97	5.32	2.57	0.30868	Tex-like protein, N-terminal (1);Tex-like protein, HTH domain (1);	0.157543	0.42548	N	0.000694	T	0.29976	0.0750	L	0.31294	0.92	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.07065	-1.0792	10	0.59425	D	0.04	.	10.3792	0.44101	0.2156:0.0:0.7844:0.0	.	279	Q8N5C6	SRBD1_HUMAN	Y	279	ENSP00000263736:H279Y	ENSP00000263736:H279Y	H	-	1	0	SRBD1	45662434	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	3.891000	0.56227	0.253000	0.21552	0.467000	0.42956	CAT	SRBD1	-	pfam_Tex-like_N		0.343	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	G	NM_018079		45808930	-1	no_errors	ENST00000263736	ensembl	human	known	70_37	missense	SNP	0.903	A
SRCAP	10847	genome.wustl.edu	37	16	30748767	30748767	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:30748767C>A	ENST00000262518.4	+	34	7791	c.7406C>A	c.(7405-7407)tCa>tAa	p.S2469*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.S2407*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.S2311*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2469	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			gtacccatttcagccccaaat	0.567																																																	0													164.0	105.0	125.0					16																	30748767		2189	4289	6478	SO:0001587	stop_gained	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7406C>A	16.37:g.30748767C>A	ENSP00000262518:p.Ser2469*		B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S2469*	ENST00000262518.4	37	c.7406	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	42	9.803964	0.99268	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	3.29	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1874	6.5537	0.22448	0.0:0.8667:0.0:0.1333	.	.	.	.	X	2469;2407;2311	.	ENSP00000262518:S2469X	S	+	2	0	SRCAP	30656268	0.996000	0.38824	1.000000	0.80357	0.422000	0.31414	2.200000	0.42724	0.968000	0.38212	0.313000	0.20887	TCA	SRCAP	-	NULL		0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30748767	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SRCAP	10847	genome.wustl.edu	37	16	30748823	30748823	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:30748823C>G	ENST00000262518.4	+	34	7847	c.7462C>G	c.(7462-7464)Cct>Gct	p.P2488A	SRCAP_ENST00000395059.2_Missense_Mutation_p.P2426A|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2330A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2488	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			tcctccccctccttcacagat	0.557																																																	0													237.0	163.0	188.0					16																	30748823		2195	4300	6495	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7462C>G	16.37:g.30748823C>G	ENSP00000262518:p.Pro2488Ala		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P2488A	ENST00000262518.4	37	c.7462	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	3.028	-0.200360	0.06219	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90504	-2.66;-2.68;-2.68	3.54	3.54	0.40534	.	0.705996	0.11033	N	0.607038	T	0.78033	0.4220	N	0.08118	0	0.09310	N	1	B;B	0.21606	0.058;0.034	B;B	0.18871	0.023;0.01	T	0.60845	-0.7182	10	0.07175	T	0.84	0.518	10.8939	0.47010	0.0:1.0:0.0:0.0	.	2426;2488	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	A	2488;2426;2330	ENSP00000262518:P2488A;ENSP00000378499:P2426A;ENSP00000343042:P2330A	ENSP00000262518:P2488A	P	+	1	0	SRCAP	30656324	0.000000	0.05858	0.188000	0.23233	0.354000	0.29330	0.049000	0.14099	2.277000	0.76020	0.313000	0.20887	CCT	SRCAP	-	NULL		0.557	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30748823	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.297	G
SREK1	140890	genome.wustl.edu	37	5	65454727	65454727	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:65454727C>T	ENST00000380918.3	+	0	574				SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Intron	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						TGCTTGATATCGTTTGGTTCA	0.383																																					GBM(10;31 347 27684 38976 41583)												0																																										SO:0001623	5_prime_UTR_variant	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.-87C>T	5.37:g.65454727C>T			A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S129L	ENST00000380918.3	37	c.386	CCDS3991.1	5																																																																																			SREK1	-	NULL		0.383	SREK1-002	KNOWN	basic|CCDS	protein_coding	SREK1	HGNC	protein_coding	OTTHUMT00000381118.1	C	NM_001077199		65454727	+1	no_errors	ENST00000522912	ensembl	human	known	70_37	missense	SNP	1.000	T
SRP68	6730	genome.wustl.edu	37	17	74066478	74066478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:74066478C>A	ENST00000307877.2	-	2	393	c.232G>T	c.(232-234)Gga>Tga	p.G78*	SRP68_ENST00000355113.5_Intron|SRP68_ENST00000539137.1_Nonsense_Mutation_p.G78*	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	78					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGAAAATCTCCATGCCGTAAA	0.368																																																	0													126.0	110.0	116.0					17																	74066478		2203	4300	6503	SO:0001587	stop_gained	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.232G>T	17.37:g.74066478C>A	ENSP00000312066:p.Gly78*		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Nonsense_Mutation	SNP	NULL	p.G78*	ENST00000307877.2	37	c.232	CCDS11738.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.165594	0.97338	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220	.	.	.	4.14	4.14	0.48551	.	0.158911	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-12.0761	17.319	0.87231	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000307756:G78X	G	-	1	0	SRP68	71578073	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.254000	0.78329	2.246000	0.74042	0.455000	0.32223	GGA	SRP68	-	NULL		0.368	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1	C	NM_014230		74066478	-1	no_errors	ENST00000307877	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SRPX2	27286	genome.wustl.edu	37	X	99905897	99905897	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:99905897C>G	ENST00000373004.3	+	3	591				SRPX2_ENST00000481988.1_3'UTR	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2						angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGAAAATCTCTTTTCTGGCC	0.522																																																	0													54.0	50.0	51.0					X																	99905897		2203	4300	6503	SO:0001627	intron_variant	27286			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.163+35C>G	X.37:g.99905897C>G			B3KQT3|Q8WW85	RNA	SNP	-	NULL	ENST00000373004.3	37	NULL	CCDS14471.1	X																																																																																			SRPX2	-	-		0.522	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	HGNC	protein_coding	OTTHUMT00000057486.1	C	NM_014467		99905897	+1	no_errors	ENST00000481988	ensembl	human	known	70_37	rna	SNP	0.000	G
SRRT	51593	genome.wustl.edu	37	7	100482440	100482440	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100482440C>T	ENST00000347433.4	+	8	1180	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	SRRT_ENST00000457580.2_Missense_Mutation_p.S341F|SRRT_ENST00000388793.4_Missense_Mutation_p.S341F|SRRT_ENST00000432932.1_Missense_Mutation_p.S341F			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	341	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAAGAAGACTCCGAGAAGGAA	0.517																																																	0													86.0	93.0	90.0					7																	100482440		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1022C>T	7.37:g.100482440C>T	ENSP00000314491:p.Ser341Phe		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.S341F	ENST00000347433.4	37	c.1022	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	C	6.825	0.521379	0.13005	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	T;T;T;T	0.44482	2.25;0.92;0.92;2.25	4.55	4.55	0.56014	.	0.430804	0.22619	N	0.057739	T	0.32041	0.0816	N	0.14661	0.345	0.26723	N	0.970743	P;P;P;P	0.49447	0.924;0.924;0.924;0.875	P;P;P;B	0.44772	0.46;0.46;0.46;0.271	T	0.22347	-1.0219	10	0.56958	D	0.05	.	15.1677	0.72842	0.0:1.0:0.0:0.0	.	341;341;341;341	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	F	341	ENSP00000416553:S341F;ENSP00000373445:S341F;ENSP00000391852:S341F;ENSP00000314491:S341F	ENSP00000314491:S341F	S	+	2	0	SRRT	100320376	0.001000	0.12720	0.988000	0.46212	0.132000	0.20833	1.058000	0.30504	2.256000	0.74724	0.591000	0.81541	TCC	SRRT	-	NULL		0.517	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	C	NM_015908		100482440	+1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	0.821	T
SRRT	51593	genome.wustl.edu	37	7	100482939	100482939	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100482939C>T	ENST00000347433.4	+	10	1423	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	SRRT_ENST00000457580.2_Missense_Mutation_p.S422F|SRRT_ENST00000388793.4_Missense_Mutation_p.S421F|SRRT_ENST00000432932.1_Missense_Mutation_p.S421F			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	422					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGACCTGCTCCCTCTTCATG	0.632																																																	0													52.0	54.0	53.0					7																	100482939		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1265C>T	7.37:g.100482939C>T	ENSP00000314491:p.Ser422Phe		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.S421F	ENST00000347433.4	37	c.1262	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872327	0.91587	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.69078	0.997;0.991;0.991;0.985	D;P;P;P	0.78314	0.991;0.901;0.901;0.798	T	0.68194	-0.5473	10	0.72032	D	0.01	.	15.8215	0.78648	0.0:1.0:0.0:0.0	.	421;421;422;422	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	F	422;421;421;422;52	ENSP00000416553:S422F;ENSP00000373445:S421F;ENSP00000391852:S421F;ENSP00000314491:S422F	ENSP00000314491:S422F	S	+	2	0	SRRT	100320875	1.000000	0.71417	0.976000	0.42696	0.952000	0.60782	5.041000	0.64196	2.595000	0.87683	0.655000	0.94253	TCC	SRRT	-	NULL		0.632	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	C	NM_015908		100482939	+1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	1.000	T
SRRT	51593	genome.wustl.edu	37	7	100483362	100483362	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100483362C>T	ENST00000347433.4	+	11	1516	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L	SRRT_ENST00000457580.2_Missense_Mutation_p.S453L|SRRT_ENST00000388793.4_Missense_Mutation_p.S452L|SRRT_ENST00000432932.1_Missense_Mutation_p.S452L			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	453					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTGGCGCTCTCAGAGCCCCAG	0.537																																																	0													86.0	77.0	80.0					7																	100483362		2203	4300	6503	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1358C>T	7.37:g.100483362C>T	ENSP00000314491:p.Ser453Leu		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.S452L	ENST00000347433.4	37	c.1355	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	c	33	5.197275	0.94960	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.999;0.989;0.989;0.981	D;D;D;D	0.78314	0.991;0.985;0.985;0.966	T	0.63171	-0.6697	10	0.72032	D	0.01	.	15.8585	0.79005	0.0:1.0:0.0:0.0	.	452;452;453;453	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	L	453;452;452;453;83	ENSP00000416553:S453L;ENSP00000373445:S452L;ENSP00000391852:S452L;ENSP00000314491:S453L	ENSP00000314491:S453L	S	+	2	0	SRRT	100321298	1.000000	0.71417	0.230000	0.23976	0.882000	0.50991	5.014000	0.64029	2.596000	0.87737	0.645000	0.84053	TCA	SRRT	-	NULL		0.537	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	C	NM_015908		100483362	+1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	0.994	T
SRSF9	8683	genome.wustl.edu	37	12	120903459	120903459	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:120903459C>G	ENST00000229390.3	-	2	503	c.320G>C	c.(319-321)aGa>aCa	p.R107T		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	107					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						ATCAGATCTTCTTGTAGGAGG	0.473																																																	0													61.0	60.0	60.0					12																	120903459		2203	4300	6503	SO:0001583	missense	8683			U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10791	protein-coding gene	gene with protein product	"""SR splicing factor 9"""	601943	"""splicing factor, arginine/serine-rich 9"""	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790	ENST00000229390.3:c.320G>C	12.37:g.120903459C>G	ENSP00000229390:p.Arg107Thr		Q52LD1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R107T	ENST00000229390.3	37	c.320	CCDS9199.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370058	0.82573	.	.	ENSG00000111786	ENST00000229390	T	0.09538	2.97	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	M	0.68952	2.095	0.80722	D	1	D;D	0.71674	0.998;0.985	D;P	0.76071	0.987;0.821	T	0.00406	-1.1759	10	0.41790	T	0.15	.	17.8641	0.88791	0.0:1.0:0.0:0.0	.	107;107	B4DFT9;Q13242	.;SRSF9_HUMAN	T	107	ENSP00000229390:R107T	ENSP00000229390:R107T	R	-	2	0	SRSF9	119387842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.909000	0.75735	2.752000	0.94435	0.557000	0.71058	AGA	SRSF9	-	NULL		0.473	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF9	HGNC	protein_coding	OTTHUMT00000108983.2	C	NM_003769		120903459	-1	no_errors	ENST00000229390	ensembl	human	known	70_37	missense	SNP	1.000	G
ST6GAL1	6480	genome.wustl.edu	37	3	186793374	186793374	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:186793374G>A	ENST00000169298.3	+	8	1678	c.1004G>A	c.(1003-1005)tGt>tAt	p.C335Y	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.C335Y|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.C104Y	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	335					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ATGACGCTGTGTGACCAGGTG	0.552																																																	0													139.0	113.0	122.0					3																	186793374		2203	4300	6503	SO:0001583	missense	6480			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1004G>A	3.37:g.186793374G>A	ENSP00000169298:p.Cys335Tyr		A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.C335Y	ENST00000169298.3	37	c.1004	CCDS3285.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943724	0.73672	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044;ENST00000442023	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.94235	0.8149	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95386	0.8477	10	0.87932	D	0	-0.9793	17.8009	0.88586	0.0:0.0:1.0:0.0	.	335	P15907	SIAT1_HUMAN	Y	335;104;335;104	ENSP00000169298:C335Y;ENSP00000412221:C104Y;ENSP00000389337:C335Y;ENSP00000403063:C104Y	ENSP00000169298:C335Y	C	+	2	0	ST6GAL1	188276068	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	9.796000	0.99103	2.884000	0.98904	0.655000	0.94253	TGT	ST6GAL1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.552	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	HGNC	protein_coding	OTTHUMT00000344399.1	G	NM_173216		186793374	+1	no_errors	ENST00000169298	ensembl	human	known	70_37	missense	SNP	1.000	A
ST7-OT4	338069	genome.wustl.edu	37	7	116595074	116595074	+	5'UTR	SNP	C	C	G	rs142605636		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:116595074C>G	ENST00000397750.3	+	0	477				ST7-OT4_ENST00000466018.1_3'UTR|ST7-OT4_ENST00000397751.1_5'UTR|ST7_ENST00000323984.3_Intron|ST7-AS1_ENST00000456775.1_RNA|ST7_ENST00000265437.5_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000393446.2_Intron|ST7_ENST00000393451.3_Intron					ST7 overlapping transcript 4																		ATTCAGCACTCTAGAATTGTC	0.428																																																	0																																										SO:0001623	5_prime_UTR_variant	338069			BM413623		7q31.2	2013-03-06	2013-03-06	2011-08-19	ENSG00000214188	ENSG00000214188		"""Long non-coding RNAs"", ""-"""	18835	other	unknown	"""non-protein coding RNA 42"""		"""ST7 overlapping transcript 4 (non-protein coding)"""	ST7OT4		12213198	Standard	NR_002329		Approved	NCRNA00042	uc003vip.1		OTTHUMG00000063631	ENST00000397750.3:c.-65C>G	7.37:g.116595074C>G				RNA	SNP	-	NULL	ENST00000397750.3	37	NULL		7																																																																																			ST7-OT4	-	-		0.428	ST7-OT4-001	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	ST7-OT4	HGNC	protein_coding	OTTHUMT00000137763.3	C	NR_002329		116595074	+1	no_errors	ENST00000466018	ensembl	human	known	70_37	rna	SNP	0.000	G
ST8SIA2	8128	genome.wustl.edu	37	15	92988086	92988086	+	Nonsense_Mutation	SNP	G	G	T	rs147607028		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:92988086G>T	ENST00000268164.3	+	5	1006	c.769G>T	c.(769-771)Gag>Tag	p.E257*	ST8SIA2_ENST00000539113.1_Nonsense_Mutation_p.E236*	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	257					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGGGTCAACGAGCTTATCCT	0.642																																																	0													95.0	73.0	81.0					15																	92988086		2198	4298	6496	SO:0001587	stop_gained	8128			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.769G>T	15.37:g.92988086G>T	ENSP00000268164:p.Glu257*		Q4VAZ0|Q92470|Q92746	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E257*	ENST00000268164.3	37	c.769	CCDS10372.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.234294	0.97399	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	.	.	.	5.64	4.73	0.59995	.	0.416366	0.28718	N	0.014373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-11.1741	14.4104	0.67111	0.0709:0.0:0.9291:0.0	.	.	.	.	X	257;236;214	.	ENSP00000268164:E257X	E	+	1	0	ST8SIA2	90789090	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	5.944000	0.70219	1.382000	0.46385	0.561000	0.74099	GAG	ST8SIA2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.642	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA2	HGNC	protein_coding	OTTHUMT00000313526.1	G	NM_006011		92988086	+1	no_errors	ENST00000268164	ensembl	human	known	70_37	nonsense	SNP	0.998	T
STARD8	9754	genome.wustl.edu	37	X	67941568	67941568	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:67941568G>C	ENST00000252336.6	+	9	2571	c.2199G>C	c.(2197-2199)aaG>aaC	p.K733N	STARD8_ENST00000374597.3_Missense_Mutation_p.K733N|STARD8_ENST00000374599.3_Missense_Mutation_p.K813N	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	733	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATGTCTCTAAGAAGGATAGCC	0.557																																																	0													62.0	55.0	58.0					X																	67941568		2203	4300	6503	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2199G>C	X.37:g.67941568G>C	ENSP00000252336:p.Lys733Asn		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.K813N	ENST00000252336.6	37	c.2439	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228620	0.58777	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08370	3.1;3.1;3.1	3.47	2.6	0.31112	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.26195	0.0639	M	0.82923	2.615	0.58432	D	0.999999	D;D	0.76494	0.975;0.999	D;D	0.79108	0.941;0.992	T	0.00995	-1.1487	10	0.49607	T	0.09	.	8.174	0.31270	0.1262:0.0:0.8738:0.0	.	813;733	Q92502-2;Q92502	.;STAR8_HUMAN	N	733;813;733	ENSP00000252336:K733N;ENSP00000363727:K813N;ENSP00000363725:K733N	ENSP00000252336:K733N	K	+	3	2	STARD8	67858293	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.326000	0.43849	0.844000	0.35094	0.513000	0.50165	AAG	STARD8	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.557	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	G	NM_014725		67941568	+1	no_errors	ENST00000374599	ensembl	human	known	70_37	missense	SNP	1.000	C
STAT6	6778	genome.wustl.edu	37	12	57492635	57492635	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:57492635G>C	ENST00000300134.3	-	18	2331	c.2006C>G	c.(2005-2007)tCt>tGt	p.S669C	STAT6_ENST00000543873.2_Missense_Mutation_p.S669C|STAT6_ENST00000538913.2_Missense_Mutation_p.S559C|STAT6_ENST00000556155.1_Missense_Mutation_p.S669C|STAT6_ENST00000537215.2_Missense_Mutation_p.S559C|STAT6_ENST00000454075.3_Missense_Mutation_p.S669C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	669					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AAGGTCATAAGAAGGCACCAT	0.552																																																	0													176.0	180.0	179.0					12																	57492635		2203	4300	6503	SO:0001583	missense	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2006C>G	12.37:g.57492635G>C	ENSP00000300134:p.Ser669Cys		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	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,smart_SH2,pfscan_SH2	p.S669C	ENST00000300134.3	37	c.2006	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849825	0.51270	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;T	0.92397	-2.8;-3.03;-2.8;-2.8;-3.03;-2.8;-1.23	5.91	5.02	0.67125	.	0.520882	0.19501	N	0.112729	T	0.82167	0.4978	N	0.08118	0	0.25658	N	0.986035	P;P	0.40000	0.698;0.698	B;B	0.33196	0.159;0.159	T	0.76675	-0.2872	10	0.66056	D	0.02	-1.7975	13.1447	0.59454	0.0:0.1602:0.8398:0.0	.	669;669	A8K4S9;P42226	.;STAT6_HUMAN	C	669;559;559;669;669;559;669;559;97;669	ENSP00000300134:S669C;ENSP00000445409:S559C;ENSP00000438451:S669C;ENSP00000451742:S669C;ENSP00000444530:S559C;ENSP00000401486:S669C;ENSP00000450428:S97C	ENSP00000300134:S669C	S	-	2	0	STAT6	55778902	0.744000	0.28250	0.788000	0.31933	0.945000	0.59286	2.375000	0.44283	1.504000	0.48704	0.655000	0.94253	TCT	STAT6	-	NULL		0.552	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	G	NM_003153		57492635	-1	no_errors	ENST00000300134	ensembl	human	known	70_37	missense	SNP	0.975	C
STAT6	6778	genome.wustl.edu	37	12	57493155	57493155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:57493155G>A	ENST00000300134.3	-	16	2138	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	STAT6_ENST00000543873.2_Nonsense_Mutation_p.R605*|STAT6_ENST00000538913.2_Nonsense_Mutation_p.R495*|STAT6_ENST00000556155.1_Nonsense_Mutation_p.R605*|STAT6_ENST00000537215.2_Nonsense_Mutation_p.R495*|STAT6_ENST00000454075.3_Nonsense_Mutation_p.R605*	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	605	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCCCGGATTCGGTCCCCCAGT	0.537																																																	0													97.0	99.0	98.0					12																	57493155		2203	4300	6503	SO:0001587	stop_gained	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1813C>T	12.37:g.57493155G>A	ENSP00000300134:p.Arg605*		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Nonsense_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,smart_SH2,pfscan_SH2	p.R605*	ENST00000300134.3	37	c.1813	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.183177	0.98693	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	.	.	.	4.47	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1826	11.6553	0.51315	0.0:0.0:0.8212:0.1788	.	.	.	.	X	605;495;495;605;605;495;605;495;33;605	.	ENSP00000300134:R605X	R	-	1	2	STAT6	55779422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.234000	0.65343	1.198000	0.43158	0.561000	0.74099	CGA	STAT6	-	pfam_SH2,smart_SH2,pfscan_SH2		0.537	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	G	NM_003153		57493155	-1	no_errors	ENST00000300134	ensembl	human	known	70_37	nonsense	SNP	1.000	A
STON2	85439	genome.wustl.edu	37	14	81837384	81837384	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:81837384G>A	ENST00000267540.2	-	3	719	c.519C>T	c.(517-519)ctC>ctT	p.L173L	STON2_ENST00000555447.1_Silent_p.L173L	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	173					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGCATTGATGAGCTGCAGAT	0.532																																																	0													102.0	92.0	95.0					14																	81837384		2203	4300	6503	SO:0001819	synonymous_variant	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.519C>T	14.37:g.81837384G>A			G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.L173	ENST00000267540.2	37	c.519	CCDS9875.1	14																																																																																			STON2	-	pfam_Stonin2_N,pirsf_Stonin		0.532	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	G	NM_033104		81837384	-1	no_errors	ENST00000267540	ensembl	human	known	70_37	silent	SNP	0.223	A
STPG2	285555	genome.wustl.edu	37	4	98761974	98761974	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:98761974G>A	ENST00000295268.3	-	9	1243	c.1154C>T	c.(1153-1155)tCt>tTt	p.S385F	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	385																	ACTAAGAAAAGAGGCATGTTT	0.403																																																	0													109.0	114.0	112.0					4																	98761974		2203	4300	6503	SO:0001583	missense	285555			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1154C>T	4.37:g.98761974G>A	ENSP00000295268:p.Ser385Phe			Missense_Mutation	SNP	NULL	p.S385F	ENST00000295268.3	37	c.1154	CCDS3645.1	4	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561926	0.65538	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.52057	0.68;2.65	5.47	4.61	0.57282	.	0.096296	0.44688	D	0.000438	T	0.65719	0.2718	M	0.64997	1.995	0.33700	D	0.61443	D	0.89917	1.0	D	0.79108	0.992	T	0.77512	-0.2560	10	0.72032	D	0.01	-6.8542	15.0653	0.71989	0.0:0.143:0.857:0.0	.	385	Q8N412	CD037_HUMAN	F	99;385	ENSP00000428346:S99F;ENSP00000295268:S385F	ENSP00000295268:S385F	S	-	2	0	C4orf37	98980997	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	3.696000	0.54757	1.276000	0.44395	0.585000	0.79938	TCT	STPG2	-	NULL		0.403	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG2	HGNC	protein_coding	OTTHUMT00000253642.1	G	NM_174952		98761974	-1	no_errors	ENST00000295268	ensembl	human	known	70_37	missense	SNP	1.000	A
STYXL1	51657	genome.wustl.edu	37	7	75634621	75634621	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:75634621C>G	ENST00000248600.1	-	6	897	c.555G>C	c.(553-555)ttG>ttC	p.L185F	STYXL1_ENST00000451157.1_Missense_Mutation_p.L185F|STYXL1_ENST00000340062.5_Missense_Mutation_p.L89F|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Missense_Mutation_p.L185F|STYXL1_ENST00000431581.1_Missense_Mutation_p.L185F	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	185	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CTTTGATTTTCAAGTCCTTCT	0.383																																																	0													97.0	93.0	95.0					7																	75634621		2203	4300	6503	SO:0001583	missense	51657			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.555G>C	7.37:g.75634621C>G	ENSP00000248600:p.Leu185Phe		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	p.L185F	ENST00000248600.1	37	c.555	CCDS5580.1	7	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381131	0.61845	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.26	5.26	0.73747	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	D	0.000001	T	0.66247	0.2770	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.87578	0.984;0.987;0.951;0.998;0.993	T	0.70550	-0.4841	10	0.45353	T	0.12	-18.75	16.3769	0.83409	0.0:1.0:0.0:0.0	.	185;185;185;89;185	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8	.;.;.;.;STYL1_HUMAN	F	185;185;89;185;185;140;185	ENSP00000248600:L185F;ENSP00000352726:L185F;ENSP00000343383:L89F;ENSP00000392221:L185F;ENSP00000406073:L140F;ENSP00000411812:L185F	ENSP00000248600:L185F	L	-	3	2	STYXL1	75472557	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	2.440000	0.44855	2.457000	0.83068	0.650000	0.86243	TTG	STYXL1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat		0.383	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STYXL1	HGNC	protein_coding	OTTHUMT00000344825.1	C	NM_016086		75634621	-1	no_errors	ENST00000248600	ensembl	human	known	70_37	missense	SNP	1.000	G
SUPT7L	9913	genome.wustl.edu	37	2	27880316	27880316	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:27880316C>T	ENST00000337768.5	-	4	1209	c.640G>A	c.(640-642)Gat>Aat	p.D214N	SUPT7L_ENST00000464789.2_Missense_Mutation_p.D212N|SUPT7L_ENST00000406540.1_Missense_Mutation_p.D212N|SUPT7L_ENST00000405491.1_Missense_Mutation_p.D212N|SUPT7L_ENST00000404798.2_Missense_Mutation_p.D79N	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	214					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TCCATCACATCAGGAAAAGGA	0.517																																																	0													78.0	81.0	80.0					2																	27880316		2021	4183	6204	SO:0001583	missense	9913			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.640G>A	2.37:g.27880316C>T	ENSP00000336750:p.Asp214Asn		B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	pfam_BTP,smart_BTP	p.D214N	ENST00000337768.5	37	c.640	CCDS42667.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.206441	0.95033	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	5.57	5.57	0.84162	Bromodomain transcription factor (2);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	L	0.49126	1.545	0.80722	D	1	P;P;P	0.47484	0.896;0.711;0.754	P;B;P	0.56612	0.802;0.359;0.491	T	0.71695	-0.4515	9	0.49607	T	0.09	-16.1877	19.5422	0.95278	0.0:1.0:0.0:0.0	.	79;212;214	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	N	214;212;212;212;79	.	ENSP00000336750:D214N	D	-	1	0	SUPT7L	27733820	1.000000	0.71417	0.240000	0.24138	0.834000	0.47266	7.730000	0.84881	2.604000	0.88044	0.561000	0.74099	GAT	SUPT7L	-	pfam_BTP,smart_BTP		0.517	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	HGNC	protein_coding	OTTHUMT00000324568.1	C	NM_014860		27880316	-1	no_errors	ENST00000337768	ensembl	human	known	70_37	missense	SNP	1.000	T
SUMO1	7341	genome.wustl.edu	37	2	203084816	203084816	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:203084816G>C	ENST00000392246.2	-	2	182	c.26C>G	c.(25-27)tCa>tGa	p.S9*	SUMO1_ENST00000409205.1_5'UTR|SUMO1_ENST00000409181.1_Nonsense_Mutation_p.S9*|SUMO1_ENST00000409498.2_5'UTR|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000392245.1_Nonsense_Mutation_p.S9*|SUMO1_ENST00000392244.3_Intron|SUMO1_ENST00000409712.1_Nonsense_Mutation_p.S9*|SUMO1_ENST00000409368.1_Nonsense_Mutation_p.S9*	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	9					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|DNA repair (GO:0006281)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of DNA binding (GO:0043392)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|PML body organization (GO:0030578)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein complex assembly (GO:0031334)|post-translational protein modification (GO:0043687)|protein localization to nuclear pore (GO:0090204)|protein sumoylation (GO:0016925)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein localization (GO:0032880)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)										GTCCTCAGTTGAAGGTTTTGC	0.338																																																	0													111.0	122.0	118.0					2																	203084816		2203	4299	6502	SO:0001587	stop_gained	7341			U38784	CCDS2352.1, CCDS46493.1	2q33	2013-06-05	2013-06-05	2004-05-19	ENSG00000116030	ENSG00000116030			12502	protein-coding gene	gene with protein product		601912	"""ubiquitin-like 1 (sentrin)"", ""SMT3 suppressor of mif two 3 homolog 1 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)"""	UBL1		8812453, 8906799	Standard	NM_003352		Approved	PIC1, GMP1, SMT3C, SUMO-1, SMT3H3, OFC10	uc002uyz.1	P63165	OTTHUMG00000132839	ENST00000392246.2:c.26C>G	2.37:g.203084816G>C	ENSP00000376077:p.Ser9*		A8MUS8|B2R4I5|P55856|Q6FGG0|Q6NZ62|Q93068	Nonsense_Mutation	SNP	pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.S9*	ENST00000392246.2	37	c.26	CCDS2352.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.425488	0.97555	.	.	ENSG00000116030	ENST00000392246;ENST00000392245;ENST00000409368;ENST00000409712;ENST00000409181	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.2843	19.8407	0.96681	0.0:0.0:1.0:0.0	.	.	.	.	X	9	.	ENSP00000376076:S9X	S	-	2	0	SUMO1	202793061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.438000	0.90305	2.763000	0.94921	0.563000	0.77884	TCA	SUMO1	-	NULL		0.338	SUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMO1	HGNC	protein_coding	OTTHUMT00000256312.2	G	NM_003352		203084816	-1	no_errors	ENST00000392245	ensembl	human	known	70_37	nonsense	SNP	1.000	C
SYCP2	10388	genome.wustl.edu	37	20	58452496	58452496	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:58452496C>G	ENST00000357552.3	-	33	3319	c.3094G>C	c.(3094-3096)Gaa>Caa	p.E1032Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1032Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1032					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CACTCTGATTCTGAATTTGAG	0.308																																																	0													54.0	56.0	55.0					20																	58452496		2201	4296	6497	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3094G>C	20.37:g.58452496C>G	ENSP00000350162:p.Glu1032Gln		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.E1032Q	ENST00000357552.3	37	c.3094	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504237	0.85176	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.39997	1.05;1.05	5.57	5.57	0.84162	.	0.169621	0.41712	D	0.000832	T	0.62270	0.2414	M	0.66939	2.045	0.34919	D	0.748257	D	0.76494	0.999	D	0.74674	0.984	T	0.71748	-0.4499	10	0.56958	D	0.05	-13.2622	15.0506	0.71865	0.0:1.0:0.0:0.0	.	1032	Q9BX26	SYCP2_HUMAN	Q	1032	ENSP00000360040:E1032Q;ENSP00000350162:E1032Q	ENSP00000350162:E1032Q	E	-	1	0	SYCP2	57885891	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.347000	0.59373	2.636000	0.89361	0.491000	0.48974	GAA	SYCP2	-	NULL		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	C	NM_014258		58452496	-1	no_errors	ENST00000357552	ensembl	human	known	70_37	missense	SNP	1.000	G
SYN1	6853	genome.wustl.edu	37	X	47432361	47432361	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:47432361C>G	ENST00000295987.7	-	13	2144	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q	SYN1_ENST00000340666.4_Splice_Site	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	674	E.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GGGGCTGGCTCTGGAAGGTTG	0.597																																																	0													81.0	72.0	75.0					X																	47432361		2203	4300	6503	SO:0001583	missense	6853				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.2020G>C	X.37:g.47432361C>G	ENSP00000295987:p.Glu674Gln		B1AJQ1|O75825|Q5H9A9	Splice_Site	SNP	-	e13-1	ENST00000295987.7	37	c.1983-1	CCDS14280.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.541778|3.541778	0.65198|0.65198	.|.	.|.	ENSG00000008056|ENSG00000008056	ENST00000340666|ENST00000295987	.|T	.|0.27104	.|1.69	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|0.316889	.|0.20462	.|N	.|0.091872	.|T	.|0.28566	.|0.0707	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.45044	.|0.849	.|B	.|0.42163	.|0.378	.|T	.|0.09143	.|-1.0688	.|9	.|0.66056	.|D	.|0.02	.|-12.581	14.6082|14.6082	0.68495|0.68495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|674	.|P17600	.|SYN1_HUMAN	.|Q	-1|674	.|ENSP00000295987:E674Q	.|ENSP00000295987:E674Q	.|E	-|-	.|1	.|0	SYN1|SYN1	47317305|47317305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.901000|6.901000	0.75693|0.75693	2.118000|2.118000	0.64928|0.64928	0.538000|0.538000	0.68166|0.68166	.|GAG	SYN1	-	-		0.597	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYN1	HGNC	protein_coding	OTTHUMT00000056445.1	C	NM_006950		47432361	-1	no_errors	ENST00000340666	ensembl	human	known	70_37	splice_site	SNP	1.000	G
SYNE2	23224	genome.wustl.edu	37	14	64518339	64518339	+	Missense_Mutation	SNP	G	G	C	rs376507352		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:64518339G>C	ENST00000344113.4	+	48	7920	c.7708G>C	c.(7708-7710)Gag>Cag	p.E2570Q	SYNE2_ENST00000358025.3_Missense_Mutation_p.E2570Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E2603Q|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2570					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CATAGAAAAAGAGAAAGATTC	0.323																																																	0													50.0	46.0	47.0					14																	64518339		1800	4076	5876	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7708G>C	14.37:g.64518339G>C	ENSP00000341781:p.Glu2570Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2570Q	ENST00000344113.4	37	c.7708	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	6.689	0.495686	0.12762	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56444	1.44;1.44;0.46	5.9	4.99	0.66335	.	0.096556	0.44902	N	0.000419	T	0.36468	0.0968	N	0.20986	0.625	0.80722	D	1	P;P	0.40211	0.583;0.707	B;B	0.33254	0.077;0.16	T	0.16158	-1.0412	10	0.31617	T	0.26	.	15.0924	0.72204	0.0:0.146:0.854:0.0	.	2570;2570	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	2570;2570;2603;2603	ENSP00000350719:E2570Q;ENSP00000341781:E2570Q;ENSP00000452570:E2603Q	ENSP00000261678:E2603Q	E	+	1	0	SYNE2	63588092	1.000000	0.71417	0.994000	0.49952	0.207000	0.24258	4.706000	0.61845	1.455000	0.47813	0.650000	0.86243	GAG	SYNE2	-	NULL		0.323	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64518339	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	C
SYNE2	23224	genome.wustl.edu	37	14	64518362	64518362	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:64518362G>T	ENST00000344113.4	+	48	7943	c.7731G>T	c.(7729-7731)ttG>ttT	p.L2577F	SYNE2_ENST00000358025.3_Missense_Mutation_p.L2577F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L2610F|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2577					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAGGCAACTTGAAAATCAAAT	0.358																																																	0													63.0	58.0	60.0					14																	64518362		1811	4075	5886	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7731G>T	14.37:g.64518362G>T	ENSP00000341781:p.Leu2577Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L2577F	ENST00000344113.4	37	c.7731	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	5.901	0.350269	0.11182	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.78481	0.86;0.86;-1.18	5.9	2.46	0.29980	.	0.401196	0.20457	N	0.091962	T	0.63721	0.2535	L	0.27053	0.805	0.36558	D	0.872262	B;B	0.31318	0.214;0.319	B;B	0.29716	0.049;0.106	T	0.66122	-0.6002	10	0.62326	D	0.03	.	9.4349	0.38632	0.0717:0.0:0.6036:0.3247	.	2577;2577	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	F	2577;2577;2610;2610	ENSP00000350719:L2577F;ENSP00000341781:L2577F;ENSP00000452570:L2610F	ENSP00000261678:L2610F	L	+	3	2	SYNE2	63588115	1.000000	0.71417	0.055000	0.19348	0.015000	0.08874	1.583000	0.36579	0.657000	0.30906	0.650000	0.86243	TTG	SYNE2	-	NULL		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64518362	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.229	T
SYNPO2	171024	genome.wustl.edu	37	4	119958343	119958343	+	IGR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:119958343G>A	ENST00000429713.2	+	0	7242				SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Intron|SYNPO2_ENST00000434046.2_Silent_p.*1110*	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2							actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCTCTACCTGATAATGATAA	0.368																																																	0													168.0	134.0	145.0					4																	119958343		692	1591	2283	SO:0001628	intergenic_variant	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165		4.37:g.119958343G>A			B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.*1110	ENST00000429713.2	37	c.3329	CCDS47129.1	4																																																																																			SYNPO2	-	NULL		0.368	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	G			119958343	+1	no_errors	ENST00000434046	ensembl	human	known	70_37	silent	SNP	0.001	A
SYT9	143425	genome.wustl.edu	37	11	7324578	7324578	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:7324578G>A	ENST00000318881.6	+	2	691	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	SYT9_ENST00000396716.2_Missense_Mutation_p.V120I	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	152					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGCCCATGGCGTCCGCGTGCA	0.612																																																	0													56.0	46.0	49.0					11																	7324578		2201	4296	6497	SO:0001583	missense	143425			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.454G>A	11.37:g.7324578G>A	ENSP00000324419:p.Val152Ile			Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.V152I	ENST00000318881.6	37	c.454	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	G	8.075	0.771121	0.16051	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.55413	0.52;0.56	5.73	-0.417	0.12347	.	0.942734	0.08946	N	0.870867	T	0.41534	0.1163	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28933	-1.0028	10	0.33940	T	0.23	.	9.5391	0.39240	0.4455:0.0:0.5545:0.0	.	152	Q86SS6	SYT9_HUMAN	I	120;152	ENSP00000379944:V120I;ENSP00000324419:V152I	ENSP00000324419:V152I	V	+	1	0	SYT9	7281154	0.000000	0.05858	0.552000	0.28243	0.149000	0.21700	-0.047000	0.11963	-0.345000	0.08325	-0.137000	0.14449	GTC	SYT9	-	NULL		0.612	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	G	NM_175733		7324578	+1	no_errors	ENST00000318881	ensembl	human	known	70_37	missense	SNP	0.002	A
SYTL2	54843	genome.wustl.edu	37	11	85435824	85435824	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:85435824G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000525423.1_Missense_Mutation_p.S559L|SYTL2_ENST00000359152.5_Missense_Mutation_p.S1083L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S559L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TATTAACTTTGATGGAGAAAG	0.428																																																	0													83.0	83.0	83.0					11																	85435824		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+3114C>T	11.37:g.85435824G>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S1083L	ENST00000528231.1	37	c.3248	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655262	0.29425	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.36878	1.25;1.23;1.24	5.58	4.67	0.58626	.	1.541800	0.03537	N	0.223384	T	0.36110	0.0955	L	0.34521	1.04	0.09310	N	1	P;P;P	0.42296	0.775;0.775;0.775	B;B;B	0.43916	0.436;0.436;0.436	T	0.20140	-1.0284	9	.	.	.	1.0116	7.7675	0.28988	0.0847:0.1635:0.7518:0.0	.	559;559;559	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	L	1083;559;559	ENSP00000352065:S1083L;ENSP00000346576:S559L;ENSP00000432694:S559L	.	S	-	2	0	SYTL2	85113472	0.006000	0.16342	0.003000	0.11579	0.164000	0.22412	1.585000	0.36600	1.586000	0.49944	0.655000	0.94253	TCA	SYTL2	-	NULL		0.428	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85435824	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.001	A
SYTL2	54843	genome.wustl.edu	37	11	85437315	85437315	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:85437315G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000525423.1_Missense_Mutation_p.S62L|SYTL2_ENST00000359152.5_Missense_Mutation_p.S586L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S62L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATTTTTACCTGATAATTTAAT	0.368																																																	0													158.0	153.0	154.0					11																	85437315		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+1623C>T	11.37:g.85437315G>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S586L	ENST00000528231.1	37	c.1757	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	9.535	1.111877	0.20714	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.32753	1.45;1.44;1.44	5.91	4.97	0.65823	.	1.140500	0.06573	N	0.748816	T	0.23210	0.0561	L	0.29908	0.895	0.09310	N	1	P;P;P	0.41848	0.763;0.763;0.763	B;B;B	0.37144	0.242;0.242;0.242	T	0.04664	-1.0935	9	.	.	.	0.4378	7.8937	0.29693	0.0809:0.0:0.7581:0.1611	.	62;62;62	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	L	586;62;62	ENSP00000352065:S586L;ENSP00000346576:S62L;ENSP00000432694:S62L	.	S	-	2	0	SYTL2	85114963	0.011000	0.17503	0.957000	0.39632	0.170000	0.22686	0.927000	0.28818	2.791000	0.96007	0.655000	0.94253	TCA	SYTL2	-	NULL		0.368	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85437315	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.081	A
TAAR1	134864	genome.wustl.edu	37	6	132966947	132966947	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:132966947C>T	ENST00000275216.1	-	1	195	c.196G>A	c.(196-198)Gcc>Acc	p.A66T		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	66					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TCCACAGTGGCCATGGAATGA	0.413																																																	0													129.0	126.0	127.0					6																	132966947		2203	4300	6503	SO:0001583	missense	134864			AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.196G>A	6.37:g.132966947C>T	ENSP00000275216:p.Ala66Thr		Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trac_amin_rcpt_1,prints_Trace_amine_rcpt	p.A66T	ENST00000275216.1	37	c.196	CCDS5158.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604160	0.87157	.	.	ENSG00000146399	ENST00000275216	T	0.56103	0.48	5.82	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.113622	0.64402	D	0.000014	T	0.79370	0.4434	H	0.98388	4.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.87329	0.2323	10	0.72032	D	0.01	-7.6273	13.7344	0.62809	0.28:0.72:0.0:0.0	.	66	Q96RJ0	TAAR1_HUMAN	T	66	ENSP00000275216:A66T	ENSP00000275216:A66T	A	-	1	0	TAAR1	133008640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.160000	0.50739	1.401000	0.46761	0.555000	0.69702	GCC	TAAR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.413	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR1	HGNC	protein_coding	OTTHUMT00000042259.1	C	NM_138327		132966947	-1	no_errors	ENST00000275216	ensembl	human	known	70_37	missense	SNP	1.000	T
TAB3	257397	genome.wustl.edu	37	X	30872550	30872550	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:30872550G>A	ENST00000378933.1	-	3	1409	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.S411L|TAB3_ENST00000378930.3_Missense_Mutation_p.S411L|TAB3_ENST00000288422.2_Missense_Mutation_p.S411L	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	411	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TATCCCTCTTGAAGGAGAACT	0.428																																					Pancreas(164;1598 1985 29022 43301 49529)												0													229.0	197.0	208.0					X																	30872550		2202	4300	6502	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1232C>T	X.37:g.30872550G>A	ENSP00000368215:p.Ser411Leu		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.S411L	ENST00000378933.1	37	c.1232	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187380	0.38609	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.83	4.32	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	L	0.29908	0.895	0.52099	D	0.999944	B;B	0.23185	0.081;0.048	B;B	0.27887	0.084;0.039	T	0.62044	-0.6937	10	0.51188	T	0.08	-5.5315	13.2503	0.60048	0.0:0.0:0.84:0.16	.	411;411	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	L	411	ENSP00000368215:S411L;ENSP00000368212:S411L;ENSP00000288422:S411L;ENSP00000368214:S411L	ENSP00000288422:S411L	S	-	2	0	TAB3	30782471	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	6.905000	0.75714	0.960000	0.38005	-0.383000	0.06682	TCA	TAB3	-	NULL		0.428	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	G	NM_152787		30872550	-1	no_errors	ENST00000288422	ensembl	human	known	70_37	missense	SNP	1.000	A
TAF9	6880	genome.wustl.edu	37	5	68651483	68651483	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:68651483C>G	ENST00000380822.4	-	4	370	c.319G>C	c.(319-321)Gaa>Caa	p.E107Q	TAF9_ENST00000380818.3_Missense_Mutation_p.E104Q|TAF9_ENST00000512561.1_Missense_Mutation_p.E76Q|TAF9_ENST00000502819.1_Intron	NM_016283.4	NP_057367.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TACCTTGTTTCAAGTCTTTCG	0.318																																																	0													75.0	71.0	72.0					5																	68651483		2203	4300	6503	SO:0001583	missense	6880			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000380822.4:c.319G>C	5.37:g.68651483C>G	ENSP00000370201:p.Glu107Gln		D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	pfam_ATPase_AAA_core	p.E107Q	ENST00000380822.4	37	c.319	CCDS4001.1	5	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570551	0.45798	.	.	ENSG00000085231	ENST00000380822;ENST00000380818;ENST00000512561	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	U	0.000000	T	0.53674	0.1811	L	0.37561	1.115	0.80722	D	1	B;B	0.20459	0.037;0.045	B;B	0.20184	0.016;0.028	T	0.47611	-0.9104	9	0.18710	T	0.47	-9.2427	18.0206	0.89253	0.0:1.0:0.0:0.0	.	104;107	Q9Y3D8-2;Q9Y3D8	.;KAD6_HUMAN	Q	107;104;76	.	ENSP00000370197:E104Q	E	-	1	0	TAF9	68687239	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	3.665000	0.54532	2.564000	0.86499	0.305000	0.20034	GAA	TAF9	-	NULL		0.318	TAF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF9	HGNC	protein_coding	OTTHUMT00000216793.1	C	NM_003187		68651483	-1	no_errors	ENST00000380822	ensembl	human	known	70_37	missense	SNP	1.000	G
TAPBPL	55080	genome.wustl.edu	37	12	6570296	6570296	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:6570296C>G	ENST00000266556.7	+	6	1456				TAPBPL_ENST00000545700.1_Intron|VAMP1_ENST00000544432.1_5'Flank	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like						negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CTAGCTACCTCACTAAAGTCT	0.473																																																	0																																										SO:0001627	intron_variant	55080			AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.1291+192C>G	12.37:g.6570296C>G			Q9NWB8	RNA	SNP	-	NULL	ENST00000266556.7	37	NULL	CCDS8546.1	12																																																																																			TAPBPL	-	-		0.473	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBPL	HGNC	protein_coding	OTTHUMT00000399263.1	C	NM_018009		6570296	+1	no_errors	ENST00000544289	ensembl	human	putative	70_37	rna	SNP	0.006	G
TAOK3	51347	genome.wustl.edu	37	12	118590140	118590140	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:118590140G>A	ENST00000392533.3	-	20	2917	c.2427C>T	c.(2425-2427)ctC>ctT	p.L809L	TAOK3_ENST00000419821.2_Silent_p.L809L|TAOK3_ENST00000536979.1_Silent_p.L4L|TAOK3_ENST00000537952.1_Silent_p.L349L|TAOK3_ENST00000543709.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	809					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTAGGCGTTGAGCAGCTCCA	0.532																																																	0													178.0	132.0	148.0					12																	118590140		2203	4300	6503	SO:0001819	synonymous_variant	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2427C>T	12.37:g.118590140G>A			Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L809	ENST00000392533.3	37	c.2427	CCDS9188.1	12																																																																																			TAOK3	-	NULL		0.532	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	G	NM_016281		118590140	-1	no_errors	ENST00000392533	ensembl	human	known	70_37	silent	SNP	1.000	A
TARM1	441864	genome.wustl.edu	37	19	54573395	54573395	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:54573395C>T	ENST00000432826.1	-	5	702	c.678G>A	c.(676-678)tcG>tcA	p.S226S	TARM1_ENST00000446034.2_Silent_p.S234S	NM_001135686.1	NP_001129158.2	B6A8C7	TARM1_HUMAN	T cell-interacting, activating receptor on myeloid cells 1	226						integral component of membrane (GO:0016021)				endometrium(1)|stomach(2)	3						AGTAGTTGCTCGATGTGGTAC	0.542																																																	0													61.0	60.0	60.0					19																	54573395		692	1591	2283	SO:0001819	synonymous_variant	441864				CCDS46173.1	19q13.42	2013-01-29			ENSG00000248385	ENSG00000248385		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	37250	protein-coding gene	gene with protein product							Standard	XM_005258952		Approved		uc010yei.1	B6A8C7		ENST00000432826.1:c.678G>A	19.37:g.54573395C>T			B4DWY4	Silent	SNP	smart_Ig_sub	p.S226	ENST00000432826.1	37	c.678	CCDS46173.1	19																																																																																			TARM1	-	NULL		0.542	TARM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TARM1	HGNC	protein_coding	OTTHUMT00000465679.1	C	NM_001135686		54573395	-1	no_errors	ENST00000432826	ensembl	human	known	70_37	silent	SNP	0.000	T
TATDN2	9797	genome.wustl.edu	37	3	10320145	10320145	+	Splice_Site	SNP	A	A	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:10320145A>G	ENST00000287652.4	+	6	3195	c.2144A>G	c.(2143-2145)cAg>cGg	p.Q715R	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000496355.1_3'UTR|TATDN2_ENST00000448281.2_Splice_Site_p.Q715R	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	715					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTCCCTCGCCAGGTAAGGGGG	0.617																																																	0													105.0	105.0	105.0					3																	10320145		2203	4300	6503	SO:0001630	splice_region_variant	9797			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.2145+1A>G	3.37:g.10320145A>G			Q3MIL9|Q5BKU0	Missense_Mutation	SNP	pfam_TatD_family	p.Q715R	ENST00000287652.4	37	c.2144	CCDS33698.1	3	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258655	0.80246	.	.	ENSG00000157014	ENST00000287652;ENST00000448281;ENST00000426850	T;T	0.24723	1.84;1.84	5.52	5.52	0.82312	.	0.087576	0.47455	U	0.000232	T	0.26085	0.0636	N	0.17312	0.475	0.51482	D	0.99992	P	0.43662	0.814	P	0.49999	0.628	T	0.04840	-1.0923	10	0.52906	T	0.07	-35.5407	13.6286	0.62181	1.0:0.0:0.0:0.0	.	715	Q93075	TATD2_HUMAN	R	715;715;136	ENSP00000287652:Q715R;ENSP00000408736:Q715R	ENSP00000287652:Q715R	Q	+	2	0	TATDN2	10295145	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.096000	0.89537	2.099000	0.63709	0.533000	0.62120	CAG	TATDN2	-	pfam_TatD_family		0.617	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	A	XM_376203	Missense_Mutation	10320145	+1	no_errors	ENST00000287652	ensembl	human	known	70_37	missense	SNP	1.000	G
TBCCD1	55171	genome.wustl.edu	37	3	186274421	186274421	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:186274421G>A	ENST00000424280.1	-	4	1115	c.636C>T	c.(634-636)ctC>ctT	p.L212L	TBCCD1_ENST00000479590.1_5'Flank|TBCCD1_ENST00000338733.5_Silent_p.L212L|TBCCD1_ENST00000446782.1_Silent_p.L116L	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	212					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TAAGGAAGCTGAGCGCCACAA	0.448																																																	0													85.0	80.0	82.0					3																	186274421		2203	4300	6503	SO:0001819	synonymous_variant	55171			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.636C>T	3.37:g.186274421G>A			B3KW69|D3DNU6|G5E9J4	Silent	SNP	pfam_Tubulin-bd_cofactor_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.L212	ENST00000424280.1	37	c.636	CCDS3276.1	3																																																																																			TBCCD1	-	NULL		0.448	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCCD1	HGNC	protein_coding	OTTHUMT00000344774.1	G	NM_018138		186274421	-1	no_errors	ENST00000338733	ensembl	human	known	70_37	silent	SNP	1.000	A
TBX22	50945	genome.wustl.edu	37	X	79286502	79286502	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:79286502G>C	ENST00000373294.5	+	8	1483	c.1455G>C	c.(1453-1455)ctG>ctC	p.L485L	TBX22_ENST00000373296.3_Silent_p.L485L|TBX22_ENST00000442340.1_Silent_p.L365L|TBX22_ENST00000373291.1_Silent_p.L365L	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	485					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATCTAGACTGATAAGTGGTT	0.373																																																	0													83.0	74.0	77.0					X																	79286502		2203	4300	6503	SO:0001819	synonymous_variant	50945			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1455G>C	X.37:g.79286502G>C			Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L485	ENST00000373294.5	37	c.1455	CCDS14445.1	X																																																																																			TBX22	-	NULL		0.373	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	G	NM_016954		79286502	+1	no_errors	ENST00000373294	ensembl	human	known	70_37	silent	SNP	0.951	C
TBXA2R	6915	genome.wustl.edu	37	19	3600354	3600354	+	Silent	SNP	G	G	A	rs199738245		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:3600354G>A	ENST00000375190.4	-	2	672	c.279C>T	c.(277-279)ttC>ttT	p.F93F	TBXA2R_ENST00000589966.1_Silent_p.F93F|TBXA2R_ENST00000411851.3_Silent_p.F93F|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	93					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGTGCCACTCGAAGAGCGCGG	0.672																																																	0													36.0	48.0	44.0					19																	3600354		2164	4244	6408	SO:0001819	synonymous_variant	6915				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.279C>T	19.37:g.3600354G>A			O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.F93	ENST00000375190.4	37	c.279	CCDS42467.1	19																																																																																			TBXA2R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.672	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBXA2R	HGNC	protein_coding	OTTHUMT00000453081.2	G			3600354	-1	no_errors	ENST00000411851	ensembl	human	known	70_37	silent	SNP	0.313	A
TCF12	6938	genome.wustl.edu	37	15	57544626	57544626	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:57544626G>A	ENST00000267811.5	+	15	1492				TCF12_ENST00000559710.1_Intron|TCF12_ENST00000343827.3_Intron|TCF12_ENST00000438423.2_Missense_Mutation_p.R399Q|TCF12_ENST00000557843.1_Intron|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000452095.2_Missense_Mutation_p.R395Q|TCF12_ENST00000543579.1_Missense_Mutation_p.R229Q|TCF12_ENST00000333725.5_Missense_Mutation_p.R399Q|TCF12_ENST00000559703.1_Missense_Mutation_p.R33Q	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R399L(2)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGAAAAATCGAGTTGAGCAG	0.398			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	2	Substitution - Missense(2)	lung(2)											126.0	104.0	112.0					15																	57544626		2192	4292	6484	SO:0001627	intron_variant	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1189-834G>A	15.37:g.57544626G>A			Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R399Q	ENST00000267811.5	37	c.1196	CCDS10159.1	15	.	.	.	.	.	.	.	.	.	.	G	25.1	4.597803	0.87055	.	.	ENSG00000140262	ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000007	T	0.69450	0.3112	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.998	D;D;D;D	0.79108	0.968;0.992;0.986;0.986	T	0.61681	-0.7013	10	0.22109	T	0.4	-7.913	19.9601	0.97247	0.0:0.0:1.0:0.0	.	229;395;229;399	B4DH96;E9PGY0;F5GY10;Q99081-3	.;.;.;.	Q	399;395;399;229	ENSP00000388940:R399Q;ENSP00000396881:R395Q;ENSP00000331057:R399Q;ENSP00000440017:R229Q	ENSP00000331057:R399Q	R	+	2	0	TCF12	55331918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	2.720000	0.93068	0.655000	0.94253	CGA	TCF12	-	NULL		0.398	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3	G	NM_003205		57544626	+1	no_errors	ENST00000438423	ensembl	human	known	70_37	missense	SNP	1.000	A
TCF20	6942	genome.wustl.edu	37	22	42605803	42605803	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:42605803C>T	ENST00000359486.3	-	1	5645	c.5509G>A	c.(5509-5511)Gag>Aag	p.E1837K	TCF20_ENST00000335626.4_Missense_Mutation_p.E1837K|TCF20_ENST00000404876.1_Missense_Mutation_p.E138K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1837					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AACTCCAGCTCAGGGCCACCT	0.517																																																	0													133.0	136.0	135.0					22																	42605803		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5509G>A	22.37:g.42605803C>T	ENSP00000352463:p.Glu1837Lys		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.E1837K	ENST00000359486.3	37	c.5509	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114021	0.77210	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.68765	0.16;0.16;-0.35	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	L	0.60455	1.87	0.53005	D	0.999967	D;D	0.63880	0.993;0.988	D;D	0.73708	0.981;0.957	T	0.78523	-0.2171	10	0.51188	T	0.08	-28.5975	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1837;1837	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	1837;1837;138	ENSP00000352463:E1837K;ENSP00000335561:E1837K;ENSP00000385531:E138K	ENSP00000335561:E1837K	E	-	1	0	TCF20	40935747	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	7.679000	0.84048	2.884000	0.98904	0.655000	0.94253	GAG	TCF20	-	NULL		0.517	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	C	NM_181492		42605803	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	T
TCHP	84260	genome.wustl.edu	37	12	110346483	110346483	+	Silent	SNP	C	C	T	rs568991965		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:110346483C>T	ENST00000312777.5	+	7	1006	c.792C>T	c.(790-792)ttC>ttT	p.F264F	TCHP_ENST00000405876.4_Silent_p.F264F	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						TGGAAGCCTTCCGGCAGAAGG	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17272	0.0		0.0	False		,,,				2504	0.0																0													51.0	52.0	52.0					12																	110346483		2202	4297	6499	SO:0001819	synonymous_variant	84260			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.792C>T	12.37:g.110346483C>T				Silent	SNP	NULL	p.F264	ENST00000312777.5	37	c.792	CCDS9137.1	12																																																																																			TCHP	-	NULL		0.567	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	HGNC	protein_coding	OTTHUMT00000403289.1	C	NM_032300		110346483	+1	no_errors	ENST00000312777	ensembl	human	known	70_37	silent	SNP	0.271	T
TCTA	6988	genome.wustl.edu	37	3	49452402	49452402	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:49452402G>C	ENST00000273590.3	+	0	640				TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000422781.1_5'Flank|RHOA_ENST00000418115.1_5'Flank|AMT_ENST00000476226.1_5'Flank|RHOA_ENST00000265538.3_5'Flank	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered							integral component of membrane (GO:0016021)				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTTCAGGGTTGGTAGCAGGGA	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	6988				CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"""T-cell leukemia translocation altered gene"""			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.*107G>C	3.37:g.49452402G>C			B2R4I4|Q6I9U4|Q9BSB0	RNA	SNP	-	NULL	ENST00000273590.3	37	NULL	CCDS2796.1	3																																																																																			TCTA	-	-		0.602	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTA	HGNC	protein_coding	OTTHUMT00000346210.1	G	NM_022171		49452402	+1	no_errors	ENST00000487432	ensembl	human	known	70_37	rna	SNP	0.021	C
TDRD6	221400	genome.wustl.edu	37	6	46658902	46658902	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:46658902G>A	ENST00000316081.6	+	1	3037	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.E1013K	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1013					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAATATTTTAGAACAGTTGTC	0.338																																																	0													47.0	51.0	50.0					6																	46658902		2203	4299	6502	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3037G>A	6.37:g.46658902G>A	ENSP00000346065:p.Glu1013Lys		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.E1013K	ENST00000316081.6	37	c.3037	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585280	0.28268	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11712	2.75;2.75	5.36	4.49	0.54785	Maternal tudor protein (1);	0.404404	0.29152	N	0.012990	T	0.05456	0.0144	L	0.47078	1.49	0.28117	N	0.930766	B;B	0.25048	0.095;0.117	B;B	0.35278	0.126;0.199	T	0.23368	-1.0190	10	0.44086	T	0.13	-2.6185	10.904	0.47069	0.0717:0.1304:0.7979:0.0	.	1013;1013	F5H5M3;O60522	.;TDRD6_HUMAN	K	1013	ENSP00000443299:E1013K;ENSP00000346065:E1013K	ENSP00000346065:E1013K	E	+	1	0	TDRD6	46766861	1.000000	0.71417	0.977000	0.42913	0.603000	0.37013	3.960000	0.56752	1.252000	0.44001	0.655000	0.94253	GAA	TDRD6	-	pfam_Tudor		0.338	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46658902	+1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.567	A
TEAD1	7003	genome.wustl.edu	37	11	12901304	12901304	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:12901304C>G	ENST00000526600.1	+	1	315	c.92C>G	c.(91-93)tCa>tGa	p.S31*	TEAD1_ENST00000334310.6_Nonsense_Mutation_p.S116*|TEAD1_ENST00000361985.2_Nonsense_Mutation_p.S127*|TEAD1_ENST00000361905.4_Nonsense_Mutation_p.S112*|TEAD1_ENST00000527575.1_Nonsense_Mutation_p.S127*|TEAD1_ENST00000527636.1_Nonsense_Mutation_p.S127*			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	127					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCCATGTCCTCAGCCCAGATC	0.577																																																	0													89.0	75.0	79.0					11																	12901304		2200	4294	6494	SO:0001587	stop_gained	7003			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.92C>G	11.37:g.12901304C>G	ENSP00000435393:p.Ser31*		A4FUP2|E7EV65	Nonsense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS	p.S112*	ENST00000526600.1	37	c.335		11	.	.	.	.	.	.	.	.	.	.	C	41	8.594732	0.98877	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-9.2796	20.2233	0.98332	0.0:1.0:0.0:0.0	.	.	.	.	X	112;127;127;116;127;31	.	ENSP00000334754:S116X	S	+	2	0	TEAD1	12857880	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.814000	0.86154	2.871000	0.98454	0.655000	0.94253	TCA	TEAD1	-	pfam_TEA/ATTS,pirsf_TEF		0.577	TEAD1-007	PUTATIVE	basic	protein_coding	TEAD1	HGNC	protein_coding	OTTHUMT00000387220.1	C	NM_021961		12901304	+1	no_errors	ENST00000361905	ensembl	human	known	70_37	nonsense	SNP	1.000	G
TENM2	57451	genome.wustl.edu	37	5	167675223	167675223	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:167675223C>G	ENST00000518659.1	+	27	7318	c.7279C>G	c.(7279-7281)Cag>Gag	p.Q2427E	TENM2_ENST00000403607.2_Missense_Mutation_p.Q2251E|TENM2_ENST00000545108.1_Missense_Mutation_p.Q2426E|TENM2_ENST00000519204.1_Missense_Mutation_p.Q2306E|TENM2_ENST00000520394.1_Missense_Mutation_p.Q2188E	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2427					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCACTTCACTCAGCGTGATTA	0.522																																																	0													82.0	84.0	83.0					5																	167675223		2024	4191	6215	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7279C>G	5.37:g.167675223C>G	ENSP00000429430:p.Gln2427Glu		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Q2427E	ENST00000518659.1	37	c.7279		5	.	.	.	.	.	.	.	.	.	.	C	6.660	0.490284	0.12702	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88664	-1.94;-1.93;-2.03;-2.4;-2.41	4.58	4.58	0.56647	Rhs repeat-associated core (1);	0.104706	0.64402	N	0.000003	T	0.81064	0.4745	N	0.20610	0.595	0.47862	D	0.999534	B;B;B	0.34329	0.001;0.001;0.449	B;B;B	0.35278	0.009;0.004;0.199	T	0.78056	-0.2353	10	0.09338	T	0.73	.	17.9775	0.89131	0.0:1.0:0.0:0.0	.	2426;2427;2188	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	E	2427;2426;2306;2188;2251	ENSP00000429430:Q2427E;ENSP00000438635:Q2426E;ENSP00000428964:Q2306E;ENSP00000427874:Q2188E;ENSP00000384905:Q2251E	ENSP00000384905:Q2251E	Q	+	1	0	ODZ2	167607801	1.000000	0.71417	0.962000	0.40283	0.965000	0.64279	5.889000	0.69766	2.552000	0.86080	0.556000	0.70494	CAG	TENM2	-	tigrfam_Rhs_assc_core		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167675223	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	0.999	G
TERF1	7013	genome.wustl.edu	37	8	73932993	73932993	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:73932993G>C	ENST00000276603.5	+	3	513	c.490G>C	c.(490-492)Gaa>Caa	p.E164Q	RNU6-285P_ENST00000410556.1_RNA|TERF1_ENST00000276602.6_Missense_Mutation_p.E164Q	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	164	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AATTGAAAAGGAACATGACAA	0.269																																																	0													37.0	35.0	35.0					8																	73932993		2201	4293	6494	SO:0001583	missense	7013			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.490G>C	8.37:g.73932993G>C	ENSP00000276603:p.Glu164Gln		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.E164Q	ENST00000276603.5	37	c.490	CCDS6211.1	8	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887983	0.33348	.	.	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000518874;ENST00000517390	.	.	.	4.82	3.92	0.45320	Telomere repeat-binding factor, dimerisation domain (4);	0.320074	0.33438	N	0.004919	T	0.50667	0.1629	M	0.65498	2.005	0.37896	D	0.930878	B;B	0.29646	0.089;0.253	B;B	0.24848	0.021;0.056	T	0.55939	-0.8061	9	0.54805	T	0.06	.	6.9203	0.24385	0.0958:0.1795:0.7247:0.0	.	164;164	P54274-2;P54274	.;TERF1_HUMAN	Q	164;164;132;60	.	ENSP00000276602:E164Q	E	+	1	0	TERF1	74095547	1.000000	0.71417	0.985000	0.45067	0.977000	0.68977	2.841000	0.48223	1.110000	0.41699	0.467000	0.42956	GAA	TERF1	-	pfam_Telomere_rpt-bd_fac_dimer_dom,superfamily_Telomere_rpt-bd_fac_dimer_dom,pirsf_Telomere_repeat-bd-1/2		0.269	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1	G	NM_017489		73932993	+1	no_errors	ENST00000276603	ensembl	human	known	70_37	missense	SNP	0.971	C
TERF1	7013	genome.wustl.edu	37	8	73958219	73958219	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:73958219G>C	ENST00000276603.5	+	10	1190	c.1167G>C	c.(1165-1167)aaG>aaC	p.K389N	TERF1_ENST00000276602.6_Missense_Mutation_p.K369N|RP11-531A24.7_ENST00000607665.1_RNA	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	389	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AAGAAGACAAGAATTTGAGAT	0.328																																																	0													61.0	61.0	61.0					8																	73958219		2203	4300	6503	SO:0001583	missense	7013			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.1167G>C	8.37:g.73958219G>C	ENSP00000276603:p.Lys389Asn		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.K389N	ENST00000276603.5	37	c.1167	CCDS6211.1	8	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752622	0.49362	.	.	ENSG00000147601	ENST00000276603;ENST00000276602	T;T	0.46063	0.88;0.88	5.52	-2.72	0.05968	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.437653	0.27482	N	0.019165	T	0.15176	0.0366	N	0.03891	-0.335	0.31424	N	0.673961	B;P	0.47841	0.328;0.901	B;B	0.43990	0.191;0.438	T	0.30995	-0.9959	10	0.59425	D	0.04	.	0.6186	0.00774	0.2634:0.207:0.3191:0.2104	.	369;389	P54274-2;P54274	.;TERF1_HUMAN	N	389;369	ENSP00000276603:K389N;ENSP00000276602:K369N	ENSP00000276602:K369N	K	+	3	2	TERF1	74120773	0.921000	0.31238	0.932000	0.37286	0.989000	0.77384	0.280000	0.18790	-0.231000	0.09825	0.557000	0.71058	AAG	TERF1	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom		0.328	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1	G	NM_017489		73958219	+1	no_errors	ENST00000276603	ensembl	human	known	70_37	missense	SNP	0.661	C
TFAP2D	83741	genome.wustl.edu	37	6	50683114	50683114	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:50683114G>A	ENST00000008391.3	+	2	553	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCACCACGGGGAGCCCACCGA	0.627																																																	0													109.0	100.0	103.0					6																	50683114		2203	4300	6503	SO:0001583	missense	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.325G>A	6.37:g.50683114G>A	ENSP00000008391:p.Glu109Lys			Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.E109K	ENST00000008391.3	37	c.325	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737622	0.49045	.	.	ENSG00000008197	ENST00000008391	D	0.97209	-4.29	5.21	5.21	0.72293	.	0.051003	0.85682	D	0.000000	D	0.95098	0.8412	N	0.08118	0	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	D	0.96169	0.9121	10	0.48119	T	0.1	-4.7531	19.1268	0.93388	0.0:0.0:1.0:0.0	.	109	Q7Z6R9	AP2D_HUMAN	K	109	ENSP00000008391:E109K	ENSP00000008391:E109K	E	+	1	0	TFAP2D	50791073	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.588000	0.98232	2.590000	0.87494	0.655000	0.94253	GAG	TFAP2D	-	NULL		0.627	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1	G	NM_172238		50683114	+1	no_errors	ENST00000008391	ensembl	human	known	70_37	missense	SNP	1.000	A
TFEC	22797	genome.wustl.edu	37	7	115624472	115624472	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:115624472G>C	ENST00000265440.7	-	2	204	c.24C>G	c.(22-24)atC>atG	p.I8M	TFEC_ENST00000484212.1_Missense_Mutation_p.I98M|TFEC_ENST00000393485.1_Missense_Mutation_p.I8M|TFEC_ENST00000320239.7_Missense_Mutation_p.I8M	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	8	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GAGTTGGATTGATGATCTGAT	0.493																																																	0													182.0	160.0	167.0					7																	115624472		2203	4300	6503	SO:0001583	missense	22797			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.24C>G	7.37:g.115624472G>C	ENSP00000265440:p.Ile8Met		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.I8M	ENST00000265440.7	37	c.24	CCDS5762.1	7	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011597	0.35511	.	.	ENSG00000105967	ENST00000265440;ENST00000320239;ENST00000393485;ENST00000484212	T;T;T;T	0.18338	2.25;2.22;2.48;2.5	4.89	4.89	0.63831	.	0.516874	0.17949	N	0.156597	T	0.10252	0.0251	N	0.08118	0	0.80722	D	1	P;P;B;B	0.45569	0.861;0.471;0.259;0.205	B;B;B;B	0.39068	0.289;0.118;0.075;0.047	T	0.21042	-1.0257	10	0.49607	T	0.09	1.5765	15.1275	0.72494	0.0:0.0:1.0:0.0	.	98;8;8;8	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	M	8;8;8;98	ENSP00000265440:I8M;ENSP00000318676:I8M;ENSP00000377125:I8M;ENSP00000417432:I98M	ENSP00000265440:I8M	I	-	3	3	TFEC	115411708	0.984000	0.35163	0.045000	0.18777	0.266000	0.26442	3.101000	0.50283	2.399000	0.81585	0.655000	0.94253	ATC	TFEC	-	NULL		0.493	TFEC-001	KNOWN	basic|CCDS	protein_coding	TFEC	HGNC	protein_coding	OTTHUMT00000059839.4	G	NM_012252		115624472	-1	no_errors	ENST00000265440	ensembl	human	known	70_37	missense	SNP	0.175	C
THAP9	79725	genome.wustl.edu	37	4	83839307	83839307	+	Missense_Mutation	SNP	C	C	G	rs372184236		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:83839307C>G	ENST00000302236.5	+	5	1993	c.1942C>G	c.(1942-1944)Caa>Gaa	p.Q648E	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	648					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATACAAATTTCAAGATGAAGT	0.388																																																	0								C	GLU/GLN	2,4402	4.2+/-10.8	0,2,2200	55.0	58.0	57.0		1942	3.0	0.5	4		57	0,8598		0,0,4299	no	missense	THAP9	NM_024672.4	29	0,2,6499	GG,GC,CC		0.0,0.0454,0.0154	possibly-damaging	648/904	83839307	2,13000	2202	4299	6501	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1942C>G	4.37:g.83839307C>G	ENSP00000305533:p.Gln648Glu		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.Q648E	ENST00000302236.5	37	c.1942	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	C	0.684	-0.797147	0.02862	4.54E-4	0.0	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90197	-2.63	3.87	2.99	0.34606	.	1.336290	0.05084	N	0.484175	T	0.82001	0.4942	N	0.22421	0.69	0.09310	N	0.999999	B	0.22276	0.067	B	0.19391	0.025	T	0.68089	-0.5501	10	0.06625	T	0.88	-0.464	6.7176	0.23312	0.2052:0.5958:0.199:0.0	.	648	Q9H5L6	THAP9_HUMAN	E	648	ENSP00000305533:Q648E	ENSP00000305533:Q648E	Q	+	1	0	THAP9	84058331	0.012000	0.17670	0.515000	0.27774	0.028000	0.11728	1.270000	0.33086	1.165000	0.42670	0.655000	0.94253	CAA	THAP9	-	NULL		0.388	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	C	NM_024672		83839307	+1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	0.017	G
THOC3	84321	genome.wustl.edu	37	5	175395167	175395167	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:175395167C>G	ENST00000265097.4	-	1	135	c.45G>C	c.(43-45)caG>caC	p.Q15H	THOC3_ENST00000514861.1_Intron|THOC3_ENST00000510300.1_5'Flank|THOC3_ENST00000513482.1_Missense_Mutation_p.Q15H	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	15					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CGGGGCCGCTCTGGCCCAACG	0.701																																																	0													7.0	9.0	8.0					5																	175395167		2038	4053	6091	SO:0001583	missense	84321			BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"""WD repeat domain containing"", ""THO complex subunits"""	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.45G>C	5.37:g.175395167C>G	ENSP00000265097:p.Gln15His		Q6NZ53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q15H	ENST00000265097.4	37	c.45	CCDS4397.1	5	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065391	0.20067	.	.	ENSG00000051596	ENST00000265097;ENST00000513482	T;T	0.59906	0.23;0.29	4.17	2.4	0.29515	.	0.277770	0.19385	U	0.115559	T	0.28699	0.0711	N	0.08118	0	0.24564	N	0.993956	P;B	0.38922	0.651;0.072	B;B	0.34722	0.188;0.084	T	0.16335	-1.0406	10	0.13470	T	0.59	-8.6672	7.3096	0.26467	0.0:0.7935:0.0:0.2065	.	15;15	Q6NZ53;Q96J01	.;THOC3_HUMAN	H	15	ENSP00000265097:Q15H;ENSP00000422243:Q15H	ENSP00000265097:Q15H	Q	-	3	2	THOC3	175327773	0.003000	0.15002	0.994000	0.49952	0.052000	0.14988	0.099000	0.15210	0.409000	0.25649	-0.346000	0.07831	CAG	THOC3	-	NULL		0.701	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	HGNC	protein_coding	OTTHUMT00000253148.1	C			175395167	-1	no_errors	ENST00000265097	ensembl	human	known	70_37	missense	SNP	0.941	G
THUMPD3	25917	genome.wustl.edu	37	3	9412758	9412758	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:9412758G>C	ENST00000345094.3	+	4	679	c.345G>C	c.(343-345)aaG>aaC	p.K115N	THUMPD3_ENST00000515662.2_Missense_Mutation_p.K115N|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.K115N	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	115						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AAGTTCTAAAGGATTTTGAAG	0.348																																																	0													88.0	105.0	99.0					3																	9412758		2186	4293	6479	SO:0001583	missense	25917			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.345G>C	3.37:g.9412758G>C	ENSP00000339532:p.Lys115Asn		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP	p.K115N	ENST00000345094.3	37	c.345	CCDS2573.1	3	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663821	0.47572	.	.	ENSG00000134077	ENST00000452837;ENST00000419437;ENST00000345094;ENST00000515662	T;T;T	0.48201	0.82;0.82;0.82	5.94	1.02	0.19986	.	0.242043	0.48286	D	0.000188	T	0.44222	0.1283	M	0.62723	1.935	0.45822	D	0.998691	P	0.41475	0.751	B	0.41988	0.372	T	0.31943	-0.9925	10	0.39692	T	0.17	-7.085	10.425	0.44373	0.4808:0.0:0.5192:0.0	.	115	Q9BV44	THUM3_HUMAN	N	115	ENSP00000395893:K115N;ENSP00000339532:K115N;ENSP00000424064:K115N	ENSP00000339532:K115N	K	+	3	2	THUMPD3	9387758	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	0.566000	0.23593	0.118000	0.18165	0.561000	0.74099	AAG	THUMPD3	-	NULL		0.348	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD3	HGNC	protein_coding	OTTHUMT00000214127.1	G	NM_015453		9412758	+1	no_errors	ENST00000345094	ensembl	human	known	70_37	missense	SNP	1.000	C
THUMPD3	25917	genome.wustl.edu	37	3	9412866	9412866	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:9412866G>C	ENST00000345094.3	+	4	787	c.453G>C	c.(451-453)caG>caC	p.Q151H	THUMPD3_ENST00000515662.2_Missense_Mutation_p.Q151H|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.Q151H	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	151						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AGATAAATCAGAATTCAAGTA	0.328																																																	0													54.0	61.0	59.0					3																	9412866		2201	4299	6500	SO:0001583	missense	25917			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.453G>C	3.37:g.9412866G>C	ENSP00000339532:p.Gln151His		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP	p.Q151H	ENST00000345094.3	37	c.453	CCDS2573.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.17|13.17	2.157411|2.157411	0.38119|0.38119	.|.	.|.	ENSG00000134077|ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662|ENST00000441127	T;T;T|.	0.48201|.	0.82;0.82;0.82|.	5.94|5.94	-0.35|-0.35	0.12606|0.12606	.|.	0.836725|.	0.11290|.	N|.	0.579335|.	T|T	0.37732|0.37732	0.1014|0.1014	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	P|.	0.49559|.	0.925|.	P|.	0.44811|.	0.461|.	T|T	0.34601|0.34601	-0.9822|-0.9822	10|5	0.45353|.	T|.	0.12|.	-0.6597|-0.6597	2.5947|2.5947	0.04851|0.04851	0.3526:0.1117:0.4216:0.1141|0.3526:0.1117:0.4216:0.1141	.|.	151|.	Q9BV44|.	THUM3_HUMAN|.	H|T	151|8	ENSP00000395893:Q151H;ENSP00000339532:Q151H;ENSP00000424064:Q151H|.	ENSP00000339532:Q151H|.	Q|R	+|+	3|2	2|0	THUMPD3|THUMPD3	9387866|9387866	0.003000|0.003000	0.15002|0.15002	0.042000|0.042000	0.18584|0.18584	0.939000|0.939000	0.58152|0.58152	0.146000|0.146000	0.16180|0.16180	-0.066000|-0.066000	0.12998|0.12998	-0.258000|-0.258000	0.10820|0.10820	CAG|AGA	THUMPD3	-	NULL		0.328	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD3	HGNC	protein_coding	OTTHUMT00000214127.1	G	NM_015453		9412866	+1	no_errors	ENST00000345094	ensembl	human	known	70_37	missense	SNP	0.000	C
TIMP2	7077	genome.wustl.edu	37	17	76867018	76867018	+	Missense_Mutation	SNP	G	G	A	rs368947971		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:76867018G>A	ENST00000262768.7	-	3	600	c.302C>T	c.(301-303)tCg>tTg	p.S101L	TIMP2_ENST00000585421.1_Missense_Mutation_p.S24L|TIMP2_ENST00000586057.1_Missense_Mutation_p.S24L|TIMP2_ENST00000536189.2_Missense_Mutation_p.S24L	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	101	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.			S -> E (in Ref. 6; AA sequence and 7; AA sequence). {ECO:0000305}.	aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			AACGTCCAGCGAGACCCCACA	0.547																																																	0								G	LEU/SER	0,4406		0,0,2203	114.0	106.0	109.0		302	4.8	1.0	17		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMP2	NM_003255.4	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	101/221	76867018	1,13005	2203	4300	6503	SO:0001583	missense	7077				CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.302C>T	17.37:g.76867018G>A	ENSP00000262768:p.Ser101Leu		Q16121|Q93006|Q9UDF7	Missense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.S101L	ENST00000262768.7	37	c.302	CCDS11758.1	17	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680196	0.68042	0.0	1.16E-4	ENSG00000035862	ENST00000262768;ENST00000536189	D;D	0.93488	-3.23;-3.23	4.82	4.82	0.62117	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.136081	0.46758	D	0.000267	D	0.88474	0.6446	L	0.34521	1.04	0.30129	N	0.805011	P	0.46987	0.888	B	0.37015	0.239	D	0.86742	0.1955	10	0.42905	T	0.14	.	16.7324	0.85438	0.0:0.0:1.0:0.0	.	101	P16035	TIMP2_HUMAN	L	101;24	ENSP00000262768:S101L;ENSP00000441724:S24L	ENSP00000262768:S101L	S	-	2	0	TIMP2	74378613	0.925000	0.31364	1.000000	0.80357	0.982000	0.71751	3.065000	0.49994	2.235000	0.73313	0.435000	0.28638	TCG	TIMP2	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain		0.547	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP2	HGNC	protein_coding	OTTHUMT00000335662.1	G	NM_003255		76867018	-1	no_errors	ENST00000262768	ensembl	human	known	70_37	missense	SNP	1.000	A
TJP1	7082	genome.wustl.edu	37	15	30034879	30034879	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:30034879C>G	ENST00000346128.6	-	9	1591	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q	TJP1_ENST00000545208.2_Missense_Mutation_p.E373Q|TJP1_ENST00000356107.6_Missense_Mutation_p.E373Q|TJP1_ENST00000400011.2_Missense_Mutation_p.E377Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	373					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCATTTCTTTCAACTGTAACT	0.378																																					Melanoma(77;681 1843 6309 6570)												0													234.0	210.0	218.0					15																	30034879		1907	4122	6029	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1117G>C	15.37:g.30034879C>G	ENSP00000281537:p.Glu373Gln		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.E373Q	ENST00000346128.6	37	c.1117	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553971	0.65425	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.06687	3.27;3.42;3.33;3.27	5.73	5.73	0.89815	.	0.166082	0.53938	D	0.000046	T	0.11707	0.0285	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.47302	0.883;0.692;0.893;0.867	B;B;B;B	0.43575	0.424;0.39;0.4;0.369	T	0.05162	-1.0902	9	.	.	.	.	19.9017	0.96988	0.0:1.0:0.0:0.0	.	366;373;373;377	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	Q	373;377;373;373;373	ENSP00000281537:E373Q;ENSP00000382890:E377Q;ENSP00000441202:E373Q;ENSP00000348416:E373Q	.	E	-	1	0	TJP1	27822171	1.000000	0.71417	0.104000	0.21259	0.930000	0.56654	5.338000	0.65947	2.707000	0.92482	0.561000	0.74099	GAA	TJP1	-	prints_ZonOcculS1		0.378	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	C	NM_003257		30034879	-1	no_errors	ENST00000346128	ensembl	human	known	70_37	missense	SNP	0.924	G
TKTL2	84076	genome.wustl.edu	37	4	164394281	164394281	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:164394281G>A	ENST00000280605.3	-	1	766	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	202						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AATTCTGGTAGATGTCTGCGC	0.517																																																	0													74.0	74.0	74.0					4																	164394281		2203	4300	6503	SO:0001819	synonymous_variant	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.606C>T	4.37:g.164394281G>A			A4FVB4|Q8NCT0|Q96M82	Silent	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.I202	ENST00000280605.3	37	c.606	CCDS3805.1	4																																																																																			TKTL2	-	pfam_Transketolase_N,pfam_DH_E1		0.517	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	HGNC	protein_coding	OTTHUMT00000365207.1	G	NM_032136		164394281	-1	no_errors	ENST00000280605	ensembl	human	known	70_37	silent	SNP	0.007	A
TLE6	79816	genome.wustl.edu	37	19	2987353	2987353	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:2987353G>A	ENST00000246112.4	+	8	742		c.e8-1		TLE6_ENST00000452088.1_Splice_Site|TLE6_ENST00000478073.2_Splice_Site	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6						regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGTGACAGAGCAGGCACC	0.642																																																	0													92.0	84.0	86.0					19																	2987353		2203	4300	6503	SO:0001630	splice_region_variant	79816			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.542-1G>A	19.37:g.2987353G>A			J3KMZ1	Splice_Site	SNP	-	e7-1	ENST00000246112.4	37	c.542-1	CCDS45910.1	19	.	.	.	.	.	.	.	.	.	.	G	8.634	0.894419	0.17613	.	.	ENSG00000104953	ENST00000246112;ENST00000452088;ENST00000441927	.	.	.	2.37	2.37	0.29283	.	.	.	.	.	.	.	.	.	.	.	0.35637	D	0.810679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3174	0.32108	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLE6	2938353	0.259000	0.24043	0.215000	0.23724	0.219000	0.24729	2.409000	0.44583	1.635000	0.50512	0.555000	0.69702	.	TLE6	-	-		0.642	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3	G	NM_024760	Intron	2987353	+1	no_errors	ENST00000246112	ensembl	human	known	70_37	splice_site	SNP	0.122	A
TLE2	7089	genome.wustl.edu	37	19	3025051	3025051	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:3025051G>C	ENST00000262953.6	-	5	523	c.261C>G	c.(259-261)atC>atG	p.I87M	TLE2_ENST00000586422.1_Missense_Mutation_p.I32M|TLE2_ENST00000455444.2_Missense_Mutation_p.I32M|TLE2_ENST00000590536.1_Missense_Mutation_p.I87M|TLE2_ENST00000447365.2_De_novo_Start_OutOfFrame|TLE2_ENST00000591529.1_Missense_Mutation_p.I100M|TLE2_ENST00000443826.3_Missense_Mutation_p.I32M|TLE2_ENST00000426948.2_Missense_Mutation_p.I100M	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	87	Gln-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGAGCGCAGATACCGCTCA	0.622																																																	0													38.0	37.0	37.0					19																	3025051		1859	4099	5958	SO:0001583	missense	7089			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.261C>G	19.37:g.3025051G>C	ENSP00000262953:p.Ile87Met		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.I87M	ENST00000262953.6	37	c.261	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	g	17.70	3.453535	0.63290	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948;ENST00000439015	T;T;T;T	0.69175	-0.35;-0.38;-0.38;-0.18	4.44	3.4	0.38934	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	M	0.94021	3.485	0.30875	N	0.732103	D;D;D;D;D	0.89917	0.999;0.997;1.0;0.997;0.999	D;D;D;D;D	0.87578	0.998;0.996;0.994;0.996;0.998	T	0.82868	-0.0244	10	0.87932	D	0	0.2222	8.3113	0.32073	0.1111:0.0:0.8889:0.0	.	87;32;100;32;87	B4DZU9;E9PEV7;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	M	87;32;80;32;100;87	ENSP00000262953:I87M;ENSP00000413107:I32M;ENSP00000392427:I32M;ENSP00000392869:I100M	ENSP00000262953:I87M	I	-	3	3	TLE2	2976051	1.000000	0.71417	0.993000	0.49108	0.752000	0.42762	3.362000	0.52314	1.003000	0.39130	0.556000	0.70494	ATC	TLE2	-	pfam_Groucho/TLE_N		0.622	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	G	NM_003260		3025051	-1	no_errors	ENST00000262953	ensembl	human	known	70_37	missense	SNP	1.000	C
TLN2	83660	genome.wustl.edu	37	15	62966062	62966062	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:62966062G>A	ENST00000561311.1	+	9	1055	c.825G>A	c.(823-825)caG>caA	p.Q275Q	TLN2_ENST00000306829.6_Silent_p.Q275Q			Q9Y4G6	TLN2_HUMAN	talin 2	275	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATATCAAGCAGAGAGGAGCTG	0.398																																																	0													128.0	138.0	135.0					15																	62966062		2203	4300	6503	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.825G>A	15.37:g.62966062G>A			A6NLB8	Silent	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.Q275	ENST00000561311.1	37	c.825	CCDS32261.1	15																																																																																			TLN2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.398	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	G			62966062	+1	no_errors	ENST00000306829	ensembl	human	known	70_37	silent	SNP	1.000	A
TLR5	7100	genome.wustl.edu	37	1	223285705	223285705	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:223285705G>C	ENST00000540964.1	-	4	1130	c.669C>G	c.(667-669)ttC>ttG	p.F223L	TLR5_ENST00000342210.6_Missense_Mutation_p.F223L			O60602	TLR5_HUMAN	toll-like receptor 5	223					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCATGTTTCTGAATGGGTTCA	0.468																																																	0													80.0	74.0	76.0					1																	223285705		2203	4300	6503	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.669C>G	1.37:g.223285705G>C	ENSP00000440643:p.Phe223Leu		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.F223L	ENST00000540964.1	37	c.669	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298544	0.40694	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.34275	1.37;1.37;1.37	5.45	4.54	0.55810	.	0.100559	0.64402	N	0.000001	T	0.42743	0.1216	M	0.69248	2.105	0.54753	D	0.999987	P	0.39809	0.689	P	0.45660	0.489	T	0.24261	-1.0165	10	0.28530	T	0.3	.	11.4797	0.50318	0.1452:0.0:0.8548:0.0	.	223	O60602	TLR5_HUMAN	L	223	ENSP00000440643:F223L;ENSP00000355846:F223L;ENSP00000340089:F223L	ENSP00000340089:F223L	F	-	3	2	TLR5	221352328	1.000000	0.71417	0.965000	0.40720	0.770000	0.43624	3.482000	0.53186	1.291000	0.44653	-0.150000	0.13652	TTC	TLR5	-	NULL		0.468	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		G	NM_003268		223285705	-1	no_errors	ENST00000342210	ensembl	human	known	70_37	missense	SNP	1.000	C
TLR5	7100	genome.wustl.edu	37	1	223285920	223285920	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:223285920G>C	ENST00000540964.1	-	4	915	c.454C>G	c.(454-456)Cta>Gta	p.L152V	TLR5_ENST00000342210.6_Missense_Mutation_p.L152V			O60602	TLR5_HUMAN	toll-like receptor 5	152					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTTTTGGATAGATCCAAGCGA	0.358																																																	0													71.0	71.0	71.0					1																	223285920		2203	4300	6503	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.454C>G	1.37:g.223285920G>C	ENSP00000440643:p.Leu152Val		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L152V	ENST00000540964.1	37	c.454	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513911	0.64522	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.76316	-1.01;-1.01;-1.01	5.03	4.11	0.48088	.	0.000000	0.64402	D	0.000001	D	0.89508	0.6735	M	0.90650	3.135	0.58432	D	0.999994	D	0.76494	0.999	D	0.97110	1.0	D	0.91482	0.5205	10	0.87932	D	0	.	13.8859	0.63708	0.0743:0.0:0.9257:0.0	.	152	O60602	TLR5_HUMAN	V	152	ENSP00000440643:L152V;ENSP00000355846:L152V;ENSP00000340089:L152V	ENSP00000340089:L152V	L	-	1	2	TLR5	221352543	1.000000	0.71417	0.981000	0.43875	0.785000	0.44390	4.838000	0.62803	1.240000	0.43803	-0.150000	0.13652	CTA	TLR5	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.358	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		G	NM_003268		223285920	-1	no_errors	ENST00000342210	ensembl	human	known	70_37	missense	SNP	1.000	C
TM6SF2	53345	genome.wustl.edu	37	19	19379487	19379487	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:19379487C>T	ENST00000389363.4	-	6	633	c.561G>A	c.(559-561)atG>atA	p.M187I	TM6SF2_ENST00000586107.1_5'Flank|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	187						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			TGAAGACCTTCATGCCAGCCC	0.607																																																	0													68.0	70.0	69.0					19																	19379487		1977	4152	6129	SO:0001583	missense	53345			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.561G>A	19.37:g.19379487C>T	ENSP00000374014:p.Met187Ile		Q0IJ64	Missense_Mutation	SNP	pfam_Transmembrane_6/97	p.M187I	ENST00000389363.4	37	c.561	CCDS42528.1	19	.	.	.	.	.	.	.	.	.	.	C	5.553	0.286815	0.10513	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.26373	1.74	5.01	3.96	0.45880	.	1.467820	0.05062	U	0.480092	T	0.20820	0.0501	L	0.35414	1.06	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.13575	-1.0504	10	0.19590	T	0.45	-0.0187	8.143	0.31095	0.0:0.8143:0.0:0.1857	.	187	Q9BZW4	TM6S2_HUMAN	I	187	ENSP00000374014:M187I	ENSP00000269990:M187I	M	-	3	0	TM6SF2	19240487	0.000000	0.05858	0.476000	0.27291	0.351000	0.29236	0.005000	0.13129	2.340000	0.79590	0.650000	0.86243	ATG	TM6SF2	-	NULL		0.607	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM6SF2	HGNC	protein_coding	OTTHUMT00000460122.2	C	NM_203510		19379487	-1	no_errors	ENST00000389363	ensembl	human	known	70_37	missense	SNP	0.013	T
TMEM101	84336	genome.wustl.edu	37	17	42089344	42089344	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:42089344C>G	ENST00000589334.1	-	5	1041	c.726G>C	c.(724-726)gaG>gaC	p.E242D	TMEM101_ENST00000542039.1_Missense_Mutation_p.E184D|TMEM101_ENST00000206380.3_Missense_Mutation_p.E242D			Q96IK0	TM101_HUMAN	transmembrane protein 101	242					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCCCACACTCTCTCCAAGGA	0.552																																																	0													99.0	86.0	90.0					17																	42089344		2203	4300	6503	SO:0001583	missense	84336			AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.726G>C	17.37:g.42089344C>G	ENSP00000468025:p.Glu242Asp		B2R9N6	Missense_Mutation	SNP	NULL	p.E242D	ENST00000589334.1	37	c.726	CCDS11474.1	17	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843325	0.32606	.	.	ENSG00000091947	ENST00000206380;ENST00000542039	.	.	.	5.56	5.56	0.83823	.	0.123452	0.56097	D	0.000037	T	0.39332	0.1074	N	0.08118	0	0.38353	D	0.944393	B	0.27732	0.187	B	0.27500	0.08	T	0.36335	-0.9752	9	0.25751	T	0.34	-1.9166	17.0298	0.86458	0.0:1.0:0.0:0.0	.	242	Q96IK0	TM101_HUMAN	D	242;184	.	ENSP00000206380:E242D	E	-	3	2	TMEM101	39444870	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.716000	0.37981	2.615000	0.88500	0.484000	0.47621	GAG	TMEM101	-	NULL		0.552	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM101	HGNC	protein_coding	OTTHUMT00000457665.1	C	NM_032376		42089344	-1	no_errors	ENST00000206380	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM101	84336	genome.wustl.edu	37	17	42090494	42090494	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:42090494G>A	ENST00000589334.1	-	4	663	c.348C>T	c.(346-348)atC>atT	p.I116I	TMEM101_ENST00000587529.1_Silent_p.I116I|TMEM101_ENST00000542039.1_Silent_p.I58I|TMEM101_ENST00000206380.3_Silent_p.I116I			Q96IK0	TM101_HUMAN	transmembrane protein 101	116					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGCCGCCGATGATGGCAACTG	0.632																																																	0													32.0	28.0	30.0					17																	42090494		2195	4285	6480	SO:0001819	synonymous_variant	84336			AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.348C>T	17.37:g.42090494G>A			B2R9N6	Silent	SNP	NULL	p.I116	ENST00000589334.1	37	c.348	CCDS11474.1	17																																																																																			TMEM101	-	NULL		0.632	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM101	HGNC	protein_coding	OTTHUMT00000457665.1	G	NM_032376		42090494	-1	no_errors	ENST00000206380	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM132B	114795	genome.wustl.edu	37	12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:126138738G>A	ENST00000299308.3	+	9	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	907						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522																																																	0													98.0	96.0	97.0					12																	126138738		2038	4218	6256	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2719G>A	12.37:g.126138738G>A	ENSP00000299308:p.Val907Ile		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.V907I	ENST00000299308.3	37	c.2719	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720217	0.89205	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.21031	2.03;2.03	5.43	5.43	0.79202	.	0.107006	0.41294	N	0.000908	T	0.40372	0.1114	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06991	-1.0796	10	0.45353	T	0.12	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	907	Q14DG7	T132B_HUMAN	I	907;419	ENSP00000299308:V907I;ENSP00000440436:V419I	ENSP00000299308:V907I	V	+	1	0	TMEM132B	124704691	1.000000	0.71417	0.985000	0.45067	0.895000	0.52256	7.748000	0.85085	2.543000	0.85770	0.655000	0.94253	GTC	TMEM132B	-	NULL		0.522	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	G	NM_052907		126138738	+1	no_errors	ENST00000299308	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM145	284339	genome.wustl.edu	37	19	42827764	42827764	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:42827764G>C	ENST00000301204.3	+	14	1265	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	MEGF8_ENST00000251268.6_5'Flank|MEGF8_ENST00000334370.4_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	408					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGGCCAACAAGAACTTCCCGT	0.642																																																	0													65.0	55.0	59.0					19																	42827764		2203	4300	6503	SO:0001583	missense	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1224G>C	19.37:g.42827764G>C	ENSP00000301204:p.Lys408Asn			Missense_Mutation	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.K408N	ENST00000301204.3	37	c.1224	CCDS12603.1	19	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831388	0.71258	.	.	ENSG00000167619	ENST00000301204	T	0.52526	0.66	4.83	3.79	0.43588	.	0.189612	0.42821	D	0.000656	T	0.41328	0.1154	L	0.57536	1.79	0.48135	D	0.999598	P	0.47762	0.9	B	0.39119	0.291	T	0.35798	-0.9774	10	0.40728	T	0.16	-21.2869	11.1943	0.48704	0.0916:0.0:0.9084:0.0	.	408	Q8NBT3	TM145_HUMAN	N	408	ENSP00000301204:K408N	ENSP00000301204:K408N	K	+	3	2	TMEM145	47519604	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.812000	0.47994	1.166000	0.42689	0.655000	0.94253	AAG	TMEM145	-	NULL		0.642	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	G	NM_173633		42827764	+1	no_errors	ENST00000301204	ensembl	human	known	70_37	missense	SNP	1.000	C
TMEM168	64418	genome.wustl.edu	37	7	112424578	112424578	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:112424578G>A	ENST00000312814.6	-	2	863	c.303C>T	c.(301-303)ttC>ttT	p.F101F	TMEM168_ENST00000454074.1_Silent_p.F101F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	101						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGCCAAGCAAGAATCCAAACC	0.333																																																	0													75.0	78.0	77.0					7																	112424578		2203	4300	6503	SO:0001819	synonymous_variant	64418				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.303C>T	7.37:g.112424578G>A			A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Silent	SNP	superfamily_ConA-like_lec_gl_sf	p.F101	ENST00000312814.6	37	c.303	CCDS5757.1	7																																																																																			TMEM168	-	NULL		0.333	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4	G	NM_022484		112424578	-1	no_errors	ENST00000312814	ensembl	human	known	70_37	silent	SNP	0.999	A
TMEM214	54867	genome.wustl.edu	37	2	27260521	27260521	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:27260521C>G	ENST00000238788.9	+	9	1165	c.1103C>G	c.(1102-1104)tCt>tGt	p.S368C	TMEM214_ENST00000404032.3_Missense_Mutation_p.S323C	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	368					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S368Y(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TACTTCCCTTCTTTCCTGTCC	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											115.0	116.0	116.0					2																	27260521		1942	4143	6085	SO:0001583	missense	54867				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1103C>G	2.37:g.27260521C>G	ENSP00000238788:p.Ser368Cys		A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	pfam_DUF2359_TMEM214	p.S368C	ENST00000238788.9	37	c.1103	CCDS42664.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.827764|4.827764	0.90955|0.90955	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000425720|ENST00000238788;ENST00000404032;ENST00000537397	.|T;T	.|0.50813	.|0.73;0.73	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69993|0.69993	0.3173|0.3173	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.72174|0.72174	-0.4370|-0.4370	5|10	.|0.72032	.|D	.|0.01	-20.9244|-20.9244	17.5913|17.5913	0.87997|0.87997	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|323;368	.|Q6NUQ4-2;Q6NUQ4	.|.;TM214_HUMAN	V|C	127|368;323;108	.|ENSP00000238788:S368C;ENSP00000384417:S323C	.|ENSP00000238788:S368C	L|S	+|+	1|2	0|0	TMEM214|TMEM214	27114025|27114025	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	7.298000|7.298000	0.78815|0.78815	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	CTT|TCT	TMEM214	-	pfam_DUF2359_TMEM214		0.572	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM214	HGNC	protein_coding	OTTHUMT00000324748.1	C	NM_017727		27260521	+1	no_errors	ENST00000238788	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM92	162461	genome.wustl.edu	37	17	48356300	48356300	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48356300C>T	ENST00000300433.3	+	5	419	c.309C>T	c.(307-309)atC>atT	p.I103I	TMEM92_ENST00000511882.1_3'UTR|RP11-893F2.9_ENST00000508851.1_RNA|TMEM92_ENST00000507382.1_Silent_p.I103I	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	103	Pro-rich.					integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TGCCCTCCATCATCCCCCCAG	0.637																																																	0													54.0	63.0	60.0					17																	48356300		2203	4300	6503	SO:0001819	synonymous_variant	162461				CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.309C>T	17.37:g.48356300C>T			Q8NBF0	Silent	SNP	NULL	p.I103	ENST00000300433.3	37	c.309	CCDS11562.1	17																																																																																			TMEM92	-	NULL		0.637	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM92	HGNC	protein_coding	OTTHUMT00000367053.2	C	NM_153229		48356300	+1	no_errors	ENST00000300433	ensembl	human	known	70_37	silent	SNP	0.000	T
TMEM92	162461	genome.wustl.edu	37	17	48356377	48356377	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48356377C>G	ENST00000300433.3	+	5	476				TMEM92_ENST00000511882.1_3'UTR|RP11-893F2.9_ENST00000508851.1_RNA|TMEM92_ENST00000507382.1_Intron	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92							integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TCATCCCCATCCCCACCTTGC	0.652																																																	0													22.0	26.0	25.0					17																	48356377		2201	4300	6501	SO:0001627	intron_variant	162461				CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.366+20C>G	17.37:g.48356377C>G			Q8NBF0	RNA	SNP	-	NULL	ENST00000300433.3	37	NULL	CCDS11562.1	17																																																																																			TMEM92	-	-		0.652	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM92	HGNC	protein_coding	OTTHUMT00000367053.2	C	NM_153229		48356377	+1	no_errors	ENST00000511882	ensembl	human	known	70_37	rna	SNP	0.000	G
TMEM92	162461	genome.wustl.edu	37	17	48356666	48356666	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48356666C>G	ENST00000300433.3	+	6	587	c.477C>G	c.(475-477)ttC>ttG	p.F159L	RP11-893F2.9_ENST00000508851.1_RNA|TMEM92_ENST00000507382.1_Missense_Mutation_p.F159L	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	159						integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						ACCCGGCCTTCTGAGTCACCT	0.612																																																	0													70.0	75.0	73.0					17																	48356666		2203	4300	6503	SO:0001583	missense	162461				CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.477C>G	17.37:g.48356666C>G	ENSP00000300433:p.Phe159Leu		Q8NBF0	Missense_Mutation	SNP	NULL	p.F159L	ENST00000300433.3	37	c.477	CCDS11562.1	17	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793825	0.90453	.	.	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.29142	1.58;1.58	4.53	3.55	0.40652	.	0.141093	0.32935	N	0.005469	T	0.22589	0.0545	L	0.60455	1.87	0.28087	N	0.931978	P	0.40107	0.703	B	0.32393	0.145	T	0.11991	-1.0565	10	0.24483	T	0.36	.	7.5649	0.27872	0.0:0.8804:0.0:0.1196	.	159	Q6UXU6	TMM92_HUMAN	L	159	ENSP00000300433:F159L;ENSP00000425144:F159L	ENSP00000300433:F159L	F	+	3	2	TMEM92	45711665	1.000000	0.71417	0.998000	0.56505	0.601000	0.36947	1.930000	0.40124	1.097000	0.41459	0.462000	0.41574	TTC	TMEM92	-	NULL		0.612	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM92	HGNC	protein_coding	OTTHUMT00000367053.2	C	NM_153229		48356666	+1	no_errors	ENST00000300433	ensembl	human	known	70_37	missense	SNP	1.000	G
TMPRSS7	344805	genome.wustl.edu	37	3	111766716	111766716	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:111766716C>G	ENST00000452346.2	+	7	864	c.861C>G	c.(859-861)ctC>ctG	p.L287L	TMPRSS7_ENST00000419127.1_Silent_p.L161L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	287	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGATTCGTCTCTCAATCAAGT	0.527																																																	0													103.0	105.0	105.0					3																	111766716		2085	4211	6296	SO:0001819	synonymous_variant	344805			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.861C>G	3.37:g.111766716C>G			C9J8P7|E9PAS3|Q17RH4	Silent	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L161	ENST00000452346.2	37	c.483		3																																																																																			TMPRSS7	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.527	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	C	XM_293599		111766716	+1	no_errors	ENST00000419127	ensembl	human	known	70_37	silent	SNP	1.000	G
TMTC3	160418	genome.wustl.edu	37	12	88589037	88589037	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:88589037G>C	ENST00000266712.6	+	14	2576	c.2356G>C	c.(2356-2358)Gac>Cac	p.D786H		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	787					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGAAGAAAAAGACTTATTAAA	0.338																																																	0													58.0	62.0	61.0					12																	88589037		2203	4298	6501	SO:0001583	missense	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2356G>C	12.37:g.88589037G>C	ENSP00000266712:p.Asp786His		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D786H	ENST00000266712.6	37	c.2356	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295983	0.81025	.	.	ENSG00000139324	ENST00000266712	T	0.76186	-1.0	5.69	5.69	0.88448	.	0.087632	0.85682	D	0.000000	T	0.80502	0.4635	M	0.64997	1.995	0.80722	D	1	P	0.39003	0.654	P	0.46940	0.532	T	0.80412	-0.1393	10	0.56958	D	0.05	-8.5105	19.7954	0.96478	0.0:0.0:1.0:0.0	.	786	Q6ZXV5-2	.	H	786	ENSP00000266712:D786H	ENSP00000266712:D786H	D	+	1	0	TMTC3	87113168	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.785000	0.99042	2.685000	0.91497	0.591000	0.81541	GAC	TMTC3	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.338	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	G	NM_181783		88589037	+1	no_errors	ENST00000266712	ensembl	human	known	70_37	missense	SNP	1.000	C
TNFRSF11B	4982	genome.wustl.edu	37	8	119936712	119936712	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:119936712G>C	ENST00000297350.4	-	5	1485	c.1107C>G	c.(1105-1107)atC>atG	p.I369M		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	369					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAAGGAACCTGATGGTCTTCT	0.403																																																	0													214.0	213.0	213.0					8																	119936712		2203	4300	6503	SO:0001583	missense	4982			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.1107C>G	8.37:g.119936712G>C	ENSP00000297350:p.Ile369Met		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pirsf_TNFR_11B,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11B,prints_TNFR_11	p.I369M	ENST00000297350.4	37	c.1107	CCDS6326.1	8	.	.	.	.	.	.	.	.	.	.	G	8.114	0.779474	0.16120	.	.	ENSG00000164761	ENST00000297350	D	0.93763	-3.28	5.69	3.88	0.44766	.	0.331422	0.32081	N	0.006616	D	0.82669	0.5087	N	0.14661	0.345	0.24957	N	0.991758	B	0.16396	0.017	B	0.13407	0.009	T	0.67260	-0.5715	9	.	.	.	-21.3416	2.9909	0.05982	0.1374:0.1215:0.4942:0.247	.	369	O00300	TR11B_HUMAN	M	369	ENSP00000297350:I369M	.	I	-	3	3	TNFRSF11B	120005893	1.000000	0.71417	0.872000	0.34217	0.709000	0.40893	1.544000	0.36158	0.748000	0.32831	0.655000	0.94253	ATC	TNFRSF11B	-	superfamily_DEATH-like,pirsf_TNFR_11B		0.403	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11B	HGNC	protein_coding	OTTHUMT00000381220.1	G			119936712	-1	no_errors	ENST00000297350	ensembl	human	known	70_37	missense	SNP	0.756	C
TNFRSF13B	23495	genome.wustl.edu	37	17	16852118	16852118	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:16852118C>T	ENST00000261652.2	-	3	391	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.E81K|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.E81K|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.E127K	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	127					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GAATTGTTTTCAACTTCTCCA	0.522									IgA Deficiency, Selective																																								0													207.0	183.0	191.0					17																	16852118		2203	4300	6503	SO:0001583	missense	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.379G>A	17.37:g.16852118C>T	ENSP00000261652:p.Glu127Lys		B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	pfam_TACI_Cys-rich-dom,prints_TNFR_13B	p.E127K	ENST00000261652.2	37	c.379	CCDS11181.1	17	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159547	0.21454	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.92752	-3.1;-3.08	4.43	2.39	0.29439	.	1.609670	0.03617	N	0.235717	D	0.90106	0.6909	L	0.59436	1.845	0.09310	N	1	P;P;P	0.51791	0.948;0.782;0.675	B;B;B	0.41332	0.354;0.327;0.175	T	0.78336	-0.2243	10	0.45353	T	0.12	-1.713	7.2516	0.26152	0.2113:0.6115:0.1772:0.0	.	127;81;127	B7Z6V8;O14836-2;O14836	.;.;TR13B_HUMAN	K	81;127	ENSP00000413453:E81K;ENSP00000261652:E127K	ENSP00000261652:E127K	E	-	1	0	TNFRSF13B	16792843	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.064000	0.11636	0.572000	0.29383	0.650000	0.86243	GAA	TNFRSF13B	-	NULL		0.522	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF13B	HGNC	protein_coding	OTTHUMT00000131474.2	C			16852118	-1	no_errors	ENST00000261652	ensembl	human	known	70_37	missense	SNP	0.001	T
TNS3	64759	genome.wustl.edu	37	7	47451364	47451364	+	Silent	SNP	G	G	A	rs549802472		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:47451364G>A	ENST00000398879.1	-	13	1050	c.684C>T	c.(682-684)atC>atT	p.I228I	TNS3_ENST00000355730.3_Silent_p.I228I|TNS3_ENST00000442536.2_Silent_p.I228I|TNS3_ENST00000458317.2_Silent_p.I228I|TNS3_ENST00000311160.9_Silent_p.I228I			Q68CZ2	TENS3_HUMAN	tensin 3	228	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTCGATGACGATGCAGATCC	0.522													g|||	1	0.000199681	0.0	0.0	5008	,	,		17423	0.0		0.001	False		,,,				2504	0.0																0													69.0	75.0	73.0					7																	47451364		2025	4180	6205	SO:0001819	synonymous_variant	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.684C>T	7.37:g.47451364G>A			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I228	ENST00000398879.1	37	c.684	CCDS5506.2	7																																																																																			TNS3	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom		0.522	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	G	NM_022748		47451364	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	silent	SNP	0.010	A
TOMM40L	84134	genome.wustl.edu	37	1	161198386	161198386	+	Intron	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:161198386C>A	ENST00000367988.3	+	8	953				MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000545897.1_Intron|NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000474486.1_Intron|TOMM40L_ENST00000367987.1_Intron	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like						ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCTATTTTTCTTCCTACCAC	0.463																																																	0																																										SO:0001627	intron_variant	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.684+92C>A	1.37:g.161198386C>A			B7Z4U0|D3DVG9	RNA	SNP	-	NULL	ENST00000367988.3	37	NULL	CCDS1227.1	1																																																																																			TOMM40L	-	-		0.463	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	HGNC	protein_coding	OTTHUMT00000083029.1	C	NM_032174		161198386	+1	no_errors	ENST00000475793	ensembl	human	known	70_37	rna	SNP	0.000	A
TRA2A	29896	genome.wustl.edu	37	7	23556088	23556088	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:23556088G>C	ENST00000297071.4	-	3	446	c.230C>G	c.(229-231)tCt>tGt	p.S77C	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	77	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TCTCCTATGAGAGTGAGAGTG	0.448																																					Pancreas(121;2137 2973 46590)												0													148.0	126.0	133.0					7																	23556088		2203	4300	6503	SO:0001583	missense	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.230C>G	7.37:g.23556088G>C	ENSP00000297071:p.Ser77Cys		B4DUA9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S77C	ENST00000297071.4	37	c.230	CCDS5383.1	7	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675873	0.88445	.	.	ENSG00000164548	ENST00000297071	T	0.52057	0.68	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	M	0.65498	2.005	0.80722	D	1	D	0.63046	0.992	P	0.60117	0.869	T	0.69053	-0.5247	10	0.66056	D	0.02	-7.0599	18.5759	0.91154	0.0:0.0:1.0:0.0	.	77	Q13595	TRA2A_HUMAN	C	77	ENSP00000297071:S77C	ENSP00000297071:S77C	S	-	2	0	TRA2A	23522613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.821000	0.92009	2.384000	0.81235	0.460000	0.39030	TCT	TRA2A	-	NULL		0.448	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	G	NM_013293		23556088	-1	no_errors	ENST00000297071	ensembl	human	known	70_37	missense	SNP	1.000	C
TRIM25	7706	genome.wustl.edu	37	17	54969328	54969328	+	Silent	SNP	G	G	A	rs137888736	byFrequency	TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:54969328G>A	ENST00000316881.4	-	9	1675	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	TRIM25_ENST00000573108.1_5'Flank|RP11-670E13.5_ENST00000574826.1_RNA|MIR3614_ENST00000581261.1_RNA|TRIM25_ENST00000537230.1_Silent_p.L542L	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	542	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TGTTGCGGCCGAGCCTGCTTT	0.597													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17533	0.0		0.0	False		,,,				2504	0.0																0								G		14,4392	23.3+/-48.9	0,14,2189	80.0	71.0	74.0		1626	-6.3	1.0	17	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous	TRIM25	NM_005082.4		0,14,6489	AA,AG,GG		0.0,0.3177,0.1076		542/631	54969328	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	7706			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1626C>T	17.37:g.54969328G>A				Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.L542	ENST00000316881.4	37	c.1626	CCDS11591.1	17																																																																																			TRIM25	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.597	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM25	HGNC	protein_coding	OTTHUMT00000440609.1	G	NM_005082		54969328	-1	no_errors	ENST00000316881	ensembl	human	known	70_37	silent	SNP	0.987	A
TRIM46	80128	genome.wustl.edu	37	1	155156672	155156672	+	3'UTR	SNP	C	C	T	rs371163009		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:155156672C>T	ENST00000334634.4	+	0	2286				TRIM46_ENST00000468878.1_3'UTR|MUC1_ENST00000462215.1_5'Flank|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_3'UTR|TRIM46_ENST00000368382.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTGAGCCTTCCAGGCCCCTC	0.637																																																	0													19.0	20.0	20.0					1																	155156672		2202	4299	6501	SO:0001624	3_prime_UTR_variant	80128				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.*6C>T	1.37:g.155156672C>T			A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	RNA	SNP	-	NULL	ENST00000334634.4	37	NULL	CCDS1097.1	1																																																																																			TRIM46	-	-		0.637	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	C	NM_025058		155156672	+1	no_errors	ENST00000468878	ensembl	human	known	70_37	rna	SNP	0.000	T
TRIM52	84851	genome.wustl.edu	37	5	180687439	180687439	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:180687439C>A	ENST00000327767.4	-	1	680	c.376G>T	c.(376-378)Gaa>Taa	p.E126*	CTC-338M12.4_ENST00000417281.2_RNA|TRIM52-AS1_ENST00000507434.1_RNA|TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	126	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TCTTCTTCTTCTTCCTCCTCG	0.453																																																	0													177.0	161.0	167.0					5																	180687439		2203	4300	6503	SO:0001587	stop_gained	84851				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.376G>T	5.37:g.180687439C>A	ENSP00000332152:p.Glu126*			Nonsense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E126*	ENST00000327767.4	37	c.376	CCDS4467.1	5	.	.	.	.	.	.	.	.	.	.	c	21.6	4.179555	0.78564	.	.	ENSG00000183718	ENST00000327767	.	.	.	3.12	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4183	0.44335	0.0:1.0:0.0:0.0	.	.	.	.	X	126	.	.	E	-	1	0	TRIM52	180620045	0.180000	0.23148	0.229000	0.23960	0.004000	0.04260	3.081000	0.50120	1.710000	0.51325	0.511000	0.50034	GAA	TRIM52	-	smart_Znf_RING		0.453	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	HGNC	protein_coding	OTTHUMT00000253572.3	C	NM_032765		180687439	-1	no_errors	ENST00000327767	ensembl	human	known	70_37	nonsense	SNP	0.358	A
TROVE2	6738	genome.wustl.edu	37	1	193044963	193044963	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:193044963G>C	ENST00000367446.3	+	3	804	c.594G>C	c.(592-594)gtG>gtC	p.V198V	TROVE2_ENST00000367443.1_Silent_p.V198V|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000432079.1_5'UTR|TROVE2_ENST00000367445.3_Silent_p.V198V|TROVE2_ENST00000367441.1_Silent_p.V198V|TROVE2_ENST00000400968.2_Silent_p.V198V|TROVE2_ENST00000367444.3_Silent_p.V198V	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	198	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TTGCAATTGTGACCAAATATA	0.323																																																	0													71.0	76.0	74.0					1																	193044963		1821	4068	5889	SO:0001819	synonymous_variant	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.594G>C	1.37:g.193044963G>C			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	pfam_TROVE,pfscan_TROVE	p.V198	ENST00000367446.3	37	c.594	CCDS1379.1	1																																																																																			TROVE2	-	pfam_TROVE,pfscan_TROVE		0.323	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	G	NM_004600		193044963	+1	no_errors	ENST00000367441	ensembl	human	known	70_37	silent	SNP	0.994	C
TRPC4	7223	genome.wustl.edu	37	13	38266217	38266217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:38266217G>A	ENST00000379705.3	-	4	2010	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*	TRPC4_ENST00000379679.1_Nonsense_Mutation_p.Q212*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.Q385*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.Q385*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.Q385*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.Q212*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.Q385*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.Q385*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.Q385*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	385					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCGATGTGCTGAGAGGCAAGC	0.473																																																	0													115.0	106.0	109.0					13																	38266217		2203	4300	6503	SO:0001587	stop_gained	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1153C>T	13.37:g.38266217G>A	ENSP00000369027:p.Gln385*		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.Q385*	ENST00000379705.3	37	c.1153	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	G	40	8.430934	0.98808	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-20.6254	19.942	0.97168	0.0:0.0:1.0:0.0	.	.	.	.	X	385;385;212;212;385;385;385;385;385	.	ENSP00000342580:Q212X	Q	-	1	0	TRPC4	37164217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.700000	0.92200	0.563000	0.77884	CAG	TRPC4	-	tigrfam_TRP_channel		0.473	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	G	NM_003306		38266217	-1	no_errors	ENST00000379681	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TRPC5	7224	genome.wustl.edu	37	X	111155612	111155612	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:111155612G>C	ENST00000262839.2	-	3	1725	c.807C>G	c.(805-807)ctC>ctG	p.L269L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	269					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCGATGGTTGAGGATGATCT	0.517																																																	0													213.0	174.0	187.0					X																	111155612		2203	4300	6503	SO:0001819	synonymous_variant	7224			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.807C>G	X.37:g.111155612G>C			B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.L269	ENST00000262839.2	37	c.807	CCDS14561.1	X																																																																																			TRPC5	-	tigrfam_TRP_channel		0.517	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	G	NM_012471		111155612	-1	no_errors	ENST00000262839	ensembl	human	known	70_37	silent	SNP	1.000	C
TRPM1	4308	genome.wustl.edu	37	15	31295118	31295118	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:31295118G>C	ENST00000256552.6	-	28	3932	c.3785C>G	c.(3784-3786)tCt>tGt	p.S1262C	TRPM1_ENST00000542188.1_Missense_Mutation_p.S1279C|TRPM1_ENST00000397795.2_Missense_Mutation_p.S1240C|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GATCAGGTCAGACCTGTCGAT	0.483																																																	0													104.0	103.0	103.0					15																	31295118		2023	4191	6214	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3785C>G	15.37:g.31295118G>C	ENSP00000256552:p.Ser1262Cys			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.S1279C	ENST00000256552.6	37	c.3836	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	G	7.496	0.651713	0.14516	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.11604	2.76;2.76;2.76	5.2	4.27	0.50696	.	0.523497	0.22116	N	0.064410	T	0.11793	0.0287	L	0.35854	1.095	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.17722	0.019;0.005	T	0.18272	-1.0342	10	0.72032	D	0.01	-2.7635	15.8001	0.78447	0.0:0.1363:0.8637:0.0	.	1234;1240	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1240;1279;1262;1240	ENSP00000380897:S1240C;ENSP00000437849:S1279C;ENSP00000256552:S1262C	ENSP00000256552:S1262C	S	-	2	0	TRPM1	29082410	0.229000	0.23729	0.002000	0.10522	0.392000	0.30506	3.154000	0.50693	1.172000	0.42781	0.650000	0.86243	TCT	TRPM1	-	NULL		0.483	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31295118	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	0.020	C
TRPM8	79054	genome.wustl.edu	37	2	234873287	234873287	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:234873287C>G	ENST00000324695.4	+	14	1805	c.1765C>G	c.(1765-1767)Ctg>Gtg	p.L589V	TRPM8_ENST00000433712.2_Missense_Mutation_p.L277V	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	589					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGGCTGCACTCTGGCAGCCCT	0.438																																																	0													41.0	46.0	44.0					2																	234873287		2203	4300	6503	SO:0001583	missense	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1765C>G	2.37:g.234873287C>G	ENSP00000323926:p.Leu589Val		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L589V	ENST00000324695.4	37	c.1765	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	C	0.465	-0.887436	0.02511	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	D;D	0.98192	-4.78;-4.78	5.68	3.89	0.44902	.	0.000000	0.51477	D	0.000082	D	0.96519	0.8864	L	0.60455	1.87	0.27848	N	0.940859	D;P	0.53151	0.958;0.622	P;B	0.46629	0.522;0.112	D	0.91400	0.5142	10	0.16420	T	0.52	-15.7843	9.6501	0.39892	0.0:0.7722:0.0:0.2278	.	277;589	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	V	589;277	ENSP00000323926:L589V;ENSP00000404423:L277V	ENSP00000323926:L589V	L	+	1	2	TRPM8	234538026	0.313000	0.24554	0.659000	0.29680	0.961000	0.63080	0.627000	0.24506	0.760000	0.33108	0.650000	0.86243	CTG	TRPM8	-	NULL		0.438	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	C	NM_024080		234873287	+1	no_errors	ENST00000324695	ensembl	human	known	70_37	missense	SNP	0.617	G
TSC22D4	81628	genome.wustl.edu	37	7	100074917	100074917	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:100074917G>C	ENST00000300181.2	-	2	1499	c.745C>G	c.(745-747)Cca>Gca	p.P249A	TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_Missense_Mutation_p.P10A	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	249					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCTCTTCTGGAGCACCCAAC	0.637																																																	0													65.0	71.0	69.0					7																	100074917		2203	4300	6503	SO:0001583	missense	81628			BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.745C>G	7.37:g.100074917G>C	ENSP00000300181:p.Pro249Ala		A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.P249A	ENST00000300181.2	37	c.745	CCDS5695.1	7	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260983	0.39995	.	.	ENSG00000166925	ENST00000300181;ENST00000393991	.	.	.	3.47	3.47	0.39725	.	0.342170	0.21567	N	0.072473	T	0.32556	0.0833	N	0.24115	0.695	0.30570	N	0.763595	B;B	0.28971	0.229;0.147	B;B	0.32289	0.143;0.068	T	0.25676	-1.0125	9	0.25751	T	0.34	-1.3639	10.8285	0.46647	0.0:0.0:1.0:0.0	.	249;249	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	A	249;10	.	ENSP00000300181:P249A	P	-	1	0	TSC22D4	99912853	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.020000	0.41010	2.255000	0.74692	0.549000	0.68633	CCA	TSC22D4	-	NULL		0.637	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC22D4	HGNC	protein_coding	OTTHUMT00000316970.1	G	NM_030935		100074917	-1	no_errors	ENST00000300181	ensembl	human	known	70_37	missense	SNP	1.000	C
TSPAN4	7106	genome.wustl.edu	37	11	865927	865927	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:865927G>A	ENST00000397404.1	+	8	833	c.574G>A	c.(574-576)Gag>Aag	p.E192K	TSPAN4_ENST00000397406.1_Missense_Mutation_p.E192K|TSPAN4_ENST00000409531.1_Missense_Mutation_p.E211K|TSPAN4_ENST00000346501.4_Missense_Mutation_p.E158K|TSPAN4_ENST00000409543.2_Missense_Mutation_p.E192K|TSPAN4_ENST00000397396.1_Missense_Mutation_p.E128K|TSPAN4_ENST00000397397.2_Missense_Mutation_p.E192K|TSPAN4_ENST00000525201.1_Missense_Mutation_p.E128K|TSPAN4_ENST00000397408.1_Missense_Mutation_p.E192K|TSPAN4_ENST00000397411.2_Missense_Mutation_p.E192K	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	192					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGTGCTACGAGACGGTGAA	0.677																																																	0													88.0	66.0	73.0					11																	865927		2203	4298	6501	SO:0001583	missense	7106			AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.574G>A	11.37:g.865927G>A	ENSP00000380553:p.Glu192Lys		Q6IAP6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.E192K	ENST00000397404.1	37	c.574	CCDS7721.1	11	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821811	0.50633	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531	T;T;T;T;T;T;T;T;T;D;T	0.87650	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-2.28;-1.39	3.62	2.69	0.31865	Tetraspanin, EC2 domain (1);	0.223543	0.37393	N	0.002111	D	0.89012	0.6594	M	0.66939	2.045	0.44603	D	0.997579	D	0.65815	0.995	P	0.60541	0.876	D	0.85308	0.1077	10	0.12103	T	0.63	.	10.4477	0.44503	0.0:0.1987:0.8013:0.0	.	192	O14817	TSN4_HUMAN	K	192;192;128;192;192;192;128;192;128;158;211	ENSP00000380552:E192K;ENSP00000380558:E192K;ENSP00000380551:E128K;ENSP00000380555:E192K;ENSP00000380554:E192K;ENSP00000386513:E192K;ENSP00000431943:E128K;ENSP00000380553:E192K;ENSP00000434818:E128K;ENSP00000324304:E158K;ENSP00000386899:E211K	ENSP00000324304:E158K	E	+	1	0	TSPAN4	855927	0.996000	0.38824	0.961000	0.40146	0.198000	0.23893	2.868000	0.48436	0.728000	0.32382	0.306000	0.20318	GAG	TSPAN4	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.677	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN4	HGNC	protein_coding	OTTHUMT00000257102.2	G			865927	+1	no_errors	ENST00000397397	ensembl	human	known	70_37	missense	SNP	0.993	A
TTBK1	84630	genome.wustl.edu	37	6	43221331	43221331	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:43221331G>A	ENST00000259750.4	+	5	439	c.356G>A	c.(355-357)cGt>cAt	p.R119H	TTBK1_ENST00000304139.5_Missense_Mutation_p.R68H	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GACCTGCGCCGTAGCCAGCCG	0.627																																																	0													43.0	37.0	39.0					6																	43221331		2203	4300	6503	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.356G>A	6.37:g.43221331G>A	ENSP00000259750:p.Arg119His		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R119H	ENST00000259750.4	37	c.356	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.315125	0.95655	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.66460	-0.21	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.73598	2.24	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.81831	-0.0752	10	0.87932	D	0	.	16.6119	0.84885	0.0:0.0:1.0:0.0	.	119	Q5TCY1	TTBK1_HUMAN	H	68;119;68	ENSP00000259750:R119H	ENSP00000259750:R119H	R	+	2	0	TTBK1	43329309	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.392000	0.97252	2.205000	0.71048	0.462000	0.41574	CGT	TTBK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.627	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	G			43221331	+1	no_errors	ENST00000259750	ensembl	human	known	70_37	missense	SNP	1.000	A
TTLL11	158135	genome.wustl.edu	37	9	124794028	124794028	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:124794028C>T	ENST00000373776.3	-	3	1124	c.937G>A	c.(937-939)Gac>Aac	p.D313N	TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000321582.5_Missense_Mutation_p.D313N	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	313	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TGGAACTCGTCAGGCAGAATC	0.502																																																	0													111.0	99.0	103.0					9																	124794028		2203	4300	6503	SO:0001583	missense	158135			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.937G>A	9.37:g.124794028C>T	ENSP00000362881:p.Asp313Asn			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.D313N	ENST00000373776.3	37	c.937	CCDS6834.2	9	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011505	0.75046	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05319	3.46;3.46	5.51	5.51	0.81932	.	0.249192	0.35466	N	0.003191	T	0.05640	0.0148	N	0.16066	0.365	0.46609	D	0.99912	P;P	0.44627	0.839;0.483	B;B	0.42692	0.395;0.27	T	0.56092	-0.8036	10	0.19590	T	0.45	.	16.4955	0.84242	0.0:1.0:0.0:0.0	.	313;313	F8W6M1;Q8NHH1	.;TTL11_HUMAN	N	313	ENSP00000321346:D313N;ENSP00000362881:D313N	ENSP00000321346:D313N	D	-	1	0	TTLL11	123833849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.323000	0.65858	2.759000	0.94783	0.591000	0.81541	GAC	TTLL11	-	pfam_Tub_tyr_ligase		0.502	TTLL11-004	KNOWN	basic|CCDS	protein_coding	TTLL11	HGNC	protein_coding	OTTHUMT00000053907.1	C	XM_088486		124794028	-1	no_errors	ENST00000321582	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179409108	179409108	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179409108C>G	ENST00000591111.1	-	295	91149	c.90925G>C	c.(90925-90927)Gag>Cag	p.E30309Q	RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23077Q|TTN_ENST00000359218.5_Missense_Mutation_p.E23010Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29382Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22885Q|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E31950Q			Q8WZ42	TITIN_HUMAN	titin	30309	Fibronectin type-III 121. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GTGTCCTTCTCTTGCATTTCC	0.428																																																	0													152.0	136.0	141.0					2																	179409108		1980	4159	6139	SO:0001583	missense	7273			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.90925G>C	2.37:g.179409108C>G	ENSP00000465570:p.Glu30309Gln		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.E29382Q	ENST00000591111.1	37	c.88144		2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167200	0.78339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67420	0.2891	L	0.38692	1.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.66976	-0.5787	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	22885;23010;23077;30309	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	29382;22885;23077;23010;22882	ENSP00000343764:E29382Q;ENSP00000434586:E22885Q;ENSP00000340554:E23077Q;ENSP00000352154:E23010Q	ENSP00000340554:E23077Q	E	-	1	0	TTN	179117354	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.097000	0.71452	2.937000	0.99478	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179409108	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179418668	179418668	+	Nonsense_Mutation	SNP	C	C	A	rs370918981		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179418668C>A	ENST00000591111.1	-	283	84471	c.84247G>T	c.(84247-84249)Gaa>Taa	p.E28083*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E20851*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E20784*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E27156*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E20659*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E29724*			Q8WZ42	TITIN_HUMAN	titin	28083	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.E27156K(1)|p.E20851K(1)|p.E20659K(1)|p.E20784K(1)|p.E27154K(1)		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)			TTGTAGAATTCAGATGGTTCA	0.413																																																	5	Substitution - Missense(5)	lung(5)											67.0	67.0	67.0					2																	179418668		1921	4130	6051	SO:0001587	stop_gained	7273			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.84247G>T	2.37:g.179418668C>A	ENSP00000465570:p.Glu28083*		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	Nonsense_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.E27156*	ENST00000591111.1	37	c.81466		2	.	.	.	.	.	.	.	.	.	.	C	66	95.242047	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	.	.	.	X	27156;20659;20851;20784;20656	.	ENSP00000340554:E20851X	E	-	1	0	TTN	179126914	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.753000	0.62183	2.793000	0.96121	0.655000	0.94253	GAA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179418668	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179444759	179444759	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179444759C>G	ENST00000591111.1	-	268	62556	c.62332G>C	c.(62332-62334)Gag>Cag	p.E20778Q	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13546Q|TTN_ENST00000359218.5_Missense_Mutation_p.E13479Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19851Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13354Q|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E22419Q			Q8WZ42	TITIN_HUMAN	titin	20778	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTTCCCTCCTCCAAATTAGCT	0.443																																																	0													156.0	153.0	154.0					2																	179444759		1917	4128	6045	SO:0001583	missense	7273			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.62332G>C	2.37:g.179444759C>G	ENSP00000465570:p.Glu20778Gln		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.E19851Q	ENST00000591111.1	37	c.59551		2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362436	0.24684	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.53	4.64	0.57946	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50069	0.1594	N	0.11892	0.195	0.48830	D	0.999716	D;P;D;P	0.55172	0.97;0.949;0.97;0.949	P;P;P;P	0.56514	0.8;0.8;0.8;0.8	T	0.59263	-0.7487	9	0.87932	D	0	.	14.7211	0.69308	0.0:0.9292:0.0:0.0708	.	13354;13479;13546;20778	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	19851;13354;13546;13479;13352	ENSP00000343764:E19851Q;ENSP00000434586:E13354Q;ENSP00000340554:E13546Q;ENSP00000352154:E13479Q	ENSP00000340554:E13546Q	E	-	1	0	TTN	179153005	1.000000	0.71417	0.410000	0.26471	0.491000	0.33493	4.895000	0.63214	1.306000	0.44926	0.467000	0.42956	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179444759	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179542477	179542477	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179542477C>T	ENST00000591111.1	-	144	33435	c.33211G>A	c.(33211-33213)Gaa>Aaa	p.E11071K	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10144K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E11388K|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10206	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCCTCTTCTTCAGGTAGA	0.433																																																	0													120.0	120.0	120.0					2																	179542477		1854	4080	5934	SO:0001583	missense	7273			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.33211G>A	2.37:g.179542477C>T	ENSP00000465570:p.Glu11071Lys		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.E10144K	ENST00000591111.1	37	c.30430		2	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590235	0.46214	.	.	ENSG00000155657	ENST00000342992	T	0.73258	-0.73	5.36	5.36	0.76844	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.62277	-0.6888	8	0.87932	D	0	.	11.8502	0.52407	0.0:0.9195:0.0:0.0805	.	11071	Q8WZ42	TITIN_HUMAN	K	10144	ENSP00000343764:E10144K	ENSP00000343764:E10144K	E	-	1	0	TTN	179250722	0.312000	0.24545	1.000000	0.80357	0.651000	0.38670	1.655000	0.37345	2.639000	0.89480	0.655000	0.94253	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179542477	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179542501	179542501	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179542501C>G	ENST00000591111.1	-	144	33411	c.33187G>C	c.(33187-33189)Gaa>Caa	p.E11063Q	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10136Q|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E11380Q|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10198	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCTTCTTCAGGTAGAACT	0.428																																																	0													128.0	128.0	128.0					2																	179542501		1859	4084	5943	SO:0001583	missense	7273			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.33187G>C	2.37:g.179542501C>G	ENSP00000465570:p.Glu11063Gln		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.E10136Q	ENST00000591111.1	37	c.30406		2	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528313	0.27299	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	6.06	6.06	0.98353	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.55097	0.1899	.	.	.	0.80722	D	1	B	0.27498	0.18	B	0.23150	0.044	T	0.56811	-0.7917	8	0.87932	D	0	.	8.0711	0.30689	0.0:0.7295:0.1362:0.1343	.	11063	Q8WZ42	TITIN_HUMAN	Q	10136	ENSP00000343764:E10136Q	ENSP00000343764:E10136Q	E	-	1	0	TTN	179250746	0.002000	0.14202	0.996000	0.52242	0.282000	0.26991	1.356000	0.34079	2.882000	0.98803	0.655000	0.94253	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179542501	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179592954	179592954	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:179592954C>T	ENST00000591111.1	-	65	18870	c.18646G>A	c.(18646-18648)Gag>Aag	p.E6216K	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E5289K|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E6533K			Q8WZ42	TITIN_HUMAN	titin	12996	Ig-like 43.				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)			ACAGATCTCTCATGGCACACA	0.403																																																	0													73.0	70.0	71.0					2																	179592954		1886	4121	6007	SO:0001583	missense	7273			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.18646G>A	2.37:g.179592954C>T	ENSP00000465570:p.Glu6216Lys		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.E5289K	ENST00000591111.1	37	c.15865		2	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377624	0.24944	.	.	ENSG00000155657	ENST00000342992	T	0.42131	0.98	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62636	0.2444	M	0.70787	2.145	0.80722	D	1	D	0.57571	0.98	P	0.57846	0.828	T	0.63795	-0.6556	9	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	6216	Q8WZ42	TITIN_HUMAN	K	5289	ENSP00000343764:E5289K	ENSP00000343764:E5289K	E	-	1	0	TTN	179301199	0.998000	0.40836	0.859000	0.33776	0.340000	0.28889	3.937000	0.56575	2.894000	0.99253	0.591000	0.81541	GAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179592954	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBA1A	7846	genome.wustl.edu	37	12	49582664	49582664	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:49582664G>C	ENST00000295766.5	-	0	18				TUBA1A_ENST00000301071.7_Intron|TUBA1A_ENST00000546918.1_Intron|TUBA1A_ENST00000550767.1_5'Flank	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a						'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	CTCGCCCAGAGAGCTTACGAA	0.582																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)												0													12.0	15.0	14.0					12																	49582664		692	1591	2283	SO:0001623	5_prime_UTR_variant	84790			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.-462C>G	12.37:g.49582664G>C			A8K0B8|G3V1U9|P04687|P05209	RNA	SNP	-	NULL	ENST00000295766.5	37	NULL	CCDS58227.1	12																																																																																			TUBA1C	-	-		0.582	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	TUBA1C	HGNC	protein_coding	OTTHUMT00000404547.2	G	NM_006009		49582664	+1	no_errors	ENST00000549554	ensembl	human	known	70_37	rna	SNP	0.000	C
TUBB2B	347733	genome.wustl.edu	37	6	3224671	3224671	+	3'UTR	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:3224671C>A	ENST00000259818.7	-	0	1843				TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCAATGTGTTCAGAAAGTTAC	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	347733			BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.*314G>T	6.37:g.3224671C>A			A8K068	RNA	SNP	-	NULL	ENST00000259818.7	37	NULL	CCDS4485.1	6																																																																																			TUBB2B	-	-		0.328	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2B	HGNC	protein_coding	OTTHUMT00000039680.2	C	NM_178012		3224671	-1	no_errors	ENST00000473006	ensembl	human	known	70_37	rna	SNP	0.000	A
TUBGCP6	85378	genome.wustl.edu	37	22	50657019	50657019	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr22:50657019C>T	ENST00000248846.5	-	22	4956	c.4852G>A	c.(4852-4854)Gag>Aag	p.E1618K	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1618					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACGCAGCCCTCGGTGATGACA	0.642																																																	0													52.0	47.0	49.0					22																	50657019		2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4852G>A	22.37:g.50657019C>T	ENSP00000248846:p.Glu1618Lys		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.E1618K	ENST00000248846.5	37	c.4852	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103907	0.76983	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.07567	3.18;3.18	5.16	5.16	0.70880	.	0.257294	0.44902	D	0.000413	T	0.23926	0.0579	L	0.59436	1.845	0.51482	D	0.999929	D;D;D	0.76494	0.996;0.999;0.998	P;D;P	0.65233	0.878;0.933;0.811	T	0.00837	-1.1546	10	0.27785	T	0.31	.	18.2382	0.89957	0.0:1.0:0.0:0.0	.	1610;1618;1618	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	K	1618;304	ENSP00000248846:E1618K;ENSP00000405979:E304K	ENSP00000248846:E1618K	E	-	1	0	TUBGCP6	48999146	1.000000	0.71417	0.998000	0.56505	0.209000	0.24338	7.597000	0.82733	2.403000	0.81681	0.591000	0.81541	GAG	TUBGCP6	-	pfam_Spc97_Spc98		0.642	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	C	NM_020461		50657019	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	missense	SNP	1.000	T
TXK	7294	genome.wustl.edu	37	4	48073610	48073610	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:48073610G>C	ENST00000264316.4	-	14	1524	c.1439C>G	c.(1438-1440)tCt>tGt	p.S480C	TXK_ENST00000507351.1_Missense_Mutation_p.S135C	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GAAGCCTTCAGAAATAGCTTC	0.403																																																	0													142.0	143.0	143.0					4																	48073610		2203	4300	6503	SO:0001583	missense	7294			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1439C>G	4.37:g.48073610G>C	ENSP00000264316:p.Ser480Cys		Q14220	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S480C	ENST00000264316.4	37	c.1439	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681141	0.47886	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	D;D	0.83250	-1.7;-1.7	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074248	0.56097	D	0.000031	D	0.85483	0.5707	N	0.20483	0.58	0.45930	D	0.998768	D;D	0.76494	0.997;0.999	D;D	0.73380	0.938;0.98	D	0.87377	0.2354	10	0.87932	D	0	.	18.4504	0.90702	0.0:0.0:1.0:0.0	.	167;480	B4DTB5;P42681	.;TXK_HUMAN	C	480;135	ENSP00000264316:S480C;ENSP00000423481:S135C	ENSP00000264316:S480C	S	-	2	0	TXK	47768367	1.000000	0.71417	0.998000	0.56505	0.077000	0.17291	7.208000	0.77907	2.836000	0.97738	0.655000	0.94253	TCT	TXK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.403	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	G	NM_003328		48073610	-1	no_errors	ENST00000264316	ensembl	human	known	70_37	missense	SNP	0.998	C
TXNDC16	57544	genome.wustl.edu	37	14	52907355	52907355	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:52907355G>C	ENST00000281741.4	-	19	2301	c.1930C>G	c.(1930-1932)Cag>Gag	p.Q644E	TXNDC16_ENST00000554399.1_5'UTR	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	644					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TTTTTATACTGAGGATTTACA	0.328																																																	0													77.0	73.0	74.0					14																	52907355		2203	4297	6500	SO:0001583	missense	57544			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1930C>G	14.37:g.52907355G>C	ENSP00000281741:p.Gln644Glu		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.Q644E	ENST00000281741.4	37	c.1930	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.666599	0.00765	.	.	ENSG00000087301	ENST00000281741	T	0.25749	1.78	5.29	3.31	0.37934	.	0.931354	0.09173	N	0.838506	T	0.15349	0.0370	L	0.31294	0.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.36601	-0.9741	10	0.02654	T	1	-17.8493	6.7777	0.23628	0.0:0.1202:0.4041:0.4756	.	639;644	B7ZME4;Q9P2K2	.;TXD16_HUMAN	E	644	ENSP00000281741:Q644E	ENSP00000281741:Q644E	Q	-	1	0	TXNDC16	51977105	0.002000	0.14202	0.184000	0.23157	0.007000	0.05969	0.834000	0.27518	1.144000	0.42321	0.591000	0.81541	CAG	TXNDC16	-	NULL		0.328	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	G	XM_051699		52907355	-1	no_errors	ENST00000281741	ensembl	human	known	70_37	missense	SNP	0.042	C
TYMS	7298	genome.wustl.edu	37	18	672892	672892	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr18:672892C>G	ENST00000323274.10	+	7	976	c.837C>G	c.(835-837)ctC>ctG	p.L279L	TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000383578.3_3'UTR|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323224.7_Silent_p.L245L|ENOSF1_ENST00000583973.1_5'Flank|TYMS_ENST00000323250.5_Silent_p.L196L	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	279					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	TCCCAAAGCTCAGGATTCTTC	0.398																																																	0													95.0	103.0	101.0					18																	672892		2203	4300	6503	SO:0001819	synonymous_variant	7298			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.837C>G	18.37:g.672892C>G			Q8WYK3|Q8WYK4	Silent	SNP	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase	p.L279	ENST00000323274.10	37	c.837	CCDS11821.1	18																																																																																			TYMS	-	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,tigrfam_Thymidylate_synthase		0.398	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYMS	HGNC	protein_coding	OTTHUMT00000254316.1	C	NM_001071		672892	+1	no_errors	ENST00000323274	ensembl	human	known	70_37	silent	SNP	1.000	G
UBR4	23352	genome.wustl.edu	37	1	19436940	19436940	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:19436940C>T	ENST00000375254.3	-	80	11938	c.11911G>A	c.(11911-11913)Gaa>Aaa	p.E3971K	UBR4_ENST00000375226.2_Missense_Mutation_p.E3947K|UBR4_ENST00000375267.2_Missense_Mutation_p.E3971K|UBR4_ENST00000375217.2_Missense_Mutation_p.E3964K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3971					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGCAGCATTTCATACTGCAGG	0.498																																																	0													59.0	57.0	58.0					1																	19436940		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11911G>A	1.37:g.19436940C>T	ENSP00000364403:p.Glu3971Lys		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E3971K	ENST00000375254.3	37	c.11911	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.115809	0.94339	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.79873	0.4521	M	0.79475	2.455	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.80834	-0.1205	10	0.72032	D	0.01	.	18.8256	0.92117	0.0:1.0:0.0:0.0	.	3971	Q5T4S7	UBR4_HUMAN	K	3971;3971;3964;3947	ENSP00000364403:E3971K;ENSP00000364416:E3971K;ENSP00000364365:E3964K;ENSP00000364374:E3947K	ENSP00000364365:E3964K	E	-	1	0	UBR4	19309527	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.298000	0.78815	2.793000	0.96121	0.655000	0.94253	GAA	UBR4	-	superfamily_ARM-type_fold		0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19436940	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	T
UBR5	51366	genome.wustl.edu	37	8	103338802	103338802	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:103338802G>A	ENST00000520539.1	-	13	2177	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	UBR5_ENST00000521922.1_Missense_Mutation_p.S518L|UBR5_ENST00000220959.4_Missense_Mutation_p.S524L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	524					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTTCGGCATTGAAGAAATACC	0.398																																					Ovarian(131;96 1741 5634 7352 27489)												0													231.0	200.0	210.0					8																	103338802		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1571C>T	8.37:g.103338802G>A	ENSP00000429084:p.Ser524Leu		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.S524L	ENST00000520539.1	37	c.1571	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	30	5.055779	0.93793	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.50813	0.73;0.73;0.73	5.17	5.17	0.71159	.	0.145703	0.48286	D	0.000189	T	0.52741	0.1753	L	0.27053	0.805	0.80722	D	1	P;P	0.40431	0.717;0.717	P;P	0.52217	0.693;0.693	T	0.57004	-0.7885	10	0.87932	D	0	.	19.045	0.93016	0.0:0.0:1.0:0.0	.	518;524	E7EMW7;O95071	.;UBR5_HUMAN	L	524;524;518	ENSP00000429084:S524L;ENSP00000220959:S524L;ENSP00000427819:S518L	ENSP00000220959:S524L	S	-	2	0	UBR5	103407978	1.000000	0.71417	0.990000	0.47175	0.885000	0.51271	9.373000	0.97168	2.567000	0.86603	0.454000	0.30748	TCA	UBR5	-	NULL		0.398	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	G	NM_015902		103338802	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	A
UGP2	7360	genome.wustl.edu	37	2	64117251	64117251	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:64117251G>C	ENST00000337130.5	+	9	1827	c.1351G>C	c.(1351-1353)Gat>Cat	p.D451H	UGP2_ENST00000445915.2_Missense_Mutation_p.D460H|UGP2_ENST00000467648.2_Missense_Mutation_p.D440H|UGP2_ENST00000394417.2_Missense_Mutation_p.D440H	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	451					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AAGTATACCAGATATGCTTGA	0.294																																																	0													88.0	91.0	90.0					2																	64117251		2202	4299	6501	SO:0001583	missense	7360				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1351G>C	2.37:g.64117251G>C	ENSP00000338703:p.Asp451His		Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.D451H	ENST00000337130.5	37	c.1351	CCDS1875.1	2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865095	0.91511	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.78637	2.42	0.80722	D	1	P;P	0.40909	0.732;0.732	P;P	0.56563	0.801;0.801	T	0.33007	-0.9885	10	0.56958	D	0.05	-40.287	20.0953	0.97838	0.0:0.0:1.0:0.0	.	460;451	E7EUC7;Q16851	.;UGPA_HUMAN	H	440;440;451;460	ENSP00000377939:D440H;ENSP00000420793:D440H;ENSP00000338703:D451H;ENSP00000411803:D460H	ENSP00000338703:D451H	D	+	1	0	UGP2	63970755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	GAT	UGP2	-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr		0.294	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	HGNC	protein_coding	OTTHUMT00000251688.1	G	NM_006759		64117251	+1	no_errors	ENST00000337130	ensembl	human	known	70_37	missense	SNP	1.000	C
UGP2	7360	genome.wustl.edu	37	2	64117260	64117260	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:64117260G>C	ENST00000337130.5	+	9	1836	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q	UGP2_ENST00000445915.2_Missense_Mutation_p.E463Q|UGP2_ENST00000467648.2_Missense_Mutation_p.E443Q|UGP2_ENST00000394417.2_Missense_Mutation_p.E443Q	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	454					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AGATATGCTTGAATTGGATCA	0.303																																																	0													92.0	96.0	95.0					2																	64117260		2202	4299	6501	SO:0001583	missense	7360				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1360G>C	2.37:g.64117260G>C	ENSP00000338703:p.Glu454Gln		Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.E454Q	ENST00000337130.5	37	c.1360	CCDS1875.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.132389	0.94473	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	M	0.76727	2.345	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61722	0.893;0.893	T	0.48328	-0.9045	10	0.54805	T	0.06	-0.8442	20.0953	0.97838	0.0:0.0:1.0:0.0	.	463;454	E7EUC7;Q16851	.;UGPA_HUMAN	Q	443;443;454;463	ENSP00000377939:E443Q;ENSP00000420793:E443Q;ENSP00000338703:E454Q;ENSP00000411803:E463Q	ENSP00000338703:E454Q	E	+	1	0	UGP2	63970764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	GAA	UGP2	-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr		0.303	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	HGNC	protein_coding	OTTHUMT00000251688.1	G	NM_006759		64117260	+1	no_errors	ENST00000337130	ensembl	human	known	70_37	missense	SNP	1.000	C
UBXN4	23190	genome.wustl.edu	37	2	136499524	136499524	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:136499524C>T	ENST00000272638.9	+	1	336	c.25C>T	c.(25-27)Ccg>Tcg	p.P9S		NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	9					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GGGCGCCATTCCGGCCGCCAT	0.701																																																	0													25.0	34.0	31.0					2																	136499524		1986	4133	6119	SO:0001583	missense	23190			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.25C>T	2.37:g.136499524C>T	ENSP00000272638:p.Pro9Ser		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.P9S	ENST00000272638.9	37	c.25	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314769	0.40996	.	.	ENSG00000144224	ENST00000272638;ENST00000430594;ENST00000415164	T;T	0.39787	1.06;1.47	4.4	1.59	0.23543	Thioredoxin-like fold (1);	0.143231	0.47852	N	0.000217	T	0.34832	0.0911	L	0.45051	1.395	0.45554	D	0.998507	P	0.35923	0.528	P	0.44394	0.448	T	0.06499	-1.0823	10	0.18276	T	0.48	.	5.3075	0.15811	0.0:0.6433:0.168:0.1886	.	9	Q92575	UBXN4_HUMAN	S	9	ENSP00000272638:P9S;ENSP00000401748:P9S	ENSP00000272638:P9S	P	+	1	0	UBXN4	136215994	1.000000	0.71417	0.998000	0.56505	0.040000	0.13550	2.192000	0.42649	0.134000	0.18681	-0.305000	0.09177	CCG	UBXN4	-	superfamily_Thioredoxin-like_fold		0.701	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	C	NM_014607		136499524	+1	no_errors	ENST00000272638	ensembl	human	known	70_37	missense	SNP	1.000	T
UGT1A6	54578	genome.wustl.edu	37	2	234601815	234601815	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:234601815G>A	ENST00000305139.6	+	1	304	c.165G>A	c.(163-165)gaG>gaA	p.E55E	AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	55					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGGGTCATGAGATTGTAGTGG	0.458																																																	0													96.0	94.0	95.0					2																	234601815		2203	4300	6503	SO:0001819	synonymous_variant	54578			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.165G>A	2.37:g.234601815G>A			A6NKK6|B8K289|Q96TE7	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E55	ENST00000305139.6	37	c.165	CCDS2507.1	2																																																																																			UGT1A6	-	pfam_UDP_glucos_trans		0.458	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A6	HGNC	protein_coding	OTTHUMT00000130988.1	G	NM_205862		234601815	+1	no_errors	ENST00000305139	ensembl	human	known	70_37	silent	SNP	0.000	A
UGT2A1	10941	genome.wustl.edu	37	4	70460216	70460216	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:70460216C>T	ENST00000503640.1	-	5	1338	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	UGT2A1_ENST00000512704.1_Missense_Mutation_p.R384K|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R594K|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R428K|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R437K|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	428					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AATGACTGTTCTCAAAGCGCT	0.373																																																	0													152.0	135.0	141.0					4																	70460216		2203	4300	6503	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1283G>A	4.37:g.70460216C>T	ENSP00000424478:p.Arg428Lys		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R437K	ENST00000503640.1	37	c.1310	CCDS3529.1	4	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009064	0.07912	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	4.53	-1.33	0.09172	.	0.339449	0.32901	N	0.005520	T	0.16811	0.0404	N	0.01522	-0.82	.	.	.	B;B;B;B;B	0.27166	0.01;0.17;0.001;0.009;0.001	B;B;B;B;B	0.32090	0.014;0.14;0.004;0.006;0.003	T	0.40079	-0.9582	9	0.02654	T	1	.	5.4437	0.16523	0.0:0.3075:0.1568:0.5357	.	594;594;384;437;428	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	K	437;428;384;594;428	ENSP00000387888:R437K;ENSP00000424478:R428K;ENSP00000421432:R384K;ENSP00000425497:R594K;ENSP00000286604:R428K	ENSP00000286604:R428K	R	-	2	0	UGT2A1	70494805	0.330000	0.24705	0.877000	0.34402	0.958000	0.62258	0.697000	0.25556	-0.204000	0.10235	0.644000	0.83932	AGA	UGT2A1	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.373	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A1	HGNC	protein_coding	OTTHUMT00000251554.3	C	NM_006798		70460216	-1	no_errors	ENST00000457664	ensembl	human	known	70_37	missense	SNP	0.870	T
UNC79	57578	genome.wustl.edu	37	14	94066945	94066945	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr14:94066945G>C	ENST00000393151.2	+	25	3403	c.3403G>C	c.(3403-3405)Gat>Cat	p.D1135H	UNC79_ENST00000256339.4_Missense_Mutation_p.D958H|UNC79_ENST00000553484.1_Missense_Mutation_p.D1135H|UNC79_ENST00000555664.1_Missense_Mutation_p.D1135H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1135					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTCCAGTTTGATACTGTGGT	0.378																																																	0													78.0	72.0	74.0					14																	94066945		2203	4300	6503	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3403G>C	14.37:g.94066945G>C	ENSP00000376858:p.Asp1135His		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D1135H	ENST00000393151.2	37	c.3403		14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676245	0.88445	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.26957	1.7;1.7;1.72;1.7	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	M	0.64170	1.965	0.58432	D	0.999996	D	0.89917	1.0	D	0.74348	0.983	T	0.48281	-0.9049	10	0.87932	D	0	-22.6716	20.2187	0.98312	0.0:0.0:1.0:0.0	.	1135	C9JQL1	.	H	958;1135;1135;1135;1135	ENSP00000256339:D958H;ENSP00000450868:D1135H;ENSP00000451360:D1135H;ENSP00000376858:D1135H	ENSP00000256339:D958H	D	+	1	0	KIAA1409	93136698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	GAT	UNC79	-	superfamily_ARM-type_fold		0.378	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	G	XM_028395		94066945	+1	no_errors	ENST00000553484	ensembl	human	known	70_37	missense	SNP	1.000	C
UNC80	285175	genome.wustl.edu	37	2	210640689	210640689	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:210640689C>A	ENST00000439458.1	+	3	298	c.218C>A	c.(217-219)tCc>tAc	p.S73Y	UNC80_ENST00000272845.6_Missense_Mutation_p.S73Y|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	73					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CAGAGCATTTCCAGATGGGAA	0.483																																																	0													166.0	154.0	158.0					2																	210640689		2203	4300	6503	SO:0001583	missense	285175			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.218C>A	2.37:g.210640689C>A	ENSP00000391088:p.Ser73Tyr		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.S73Y	ENST00000439458.1	37	c.218	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934466	0.92458	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.39406	1.08;1.08	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.75484	0.931;0.986	T	0.63180	-0.6695	10	0.66056	D	0.02	.	18.7669	0.91876	0.0:1.0:0.0:0.0	.	73;73	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	Y	73	ENSP00000391088:S73Y;ENSP00000272845:S73Y	ENSP00000272845:S73Y	S	+	2	0	UNC80	210348934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.587000	0.82613	2.763000	0.94921	0.650000	0.86243	TCC	UNC80	-	NULL		0.483	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		C	NM_182587		210640689	+1	no_errors	ENST00000439458	ensembl	human	known	70_37	missense	SNP	1.000	A
UPF1	5976	genome.wustl.edu	37	19	18974274	18974274	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:18974274G>A	ENST00000599848.1	+	19	2870	c.2661G>A	c.(2659-2661)ccG>ccA	p.P887P	UPF1_ENST00000262803.5_Silent_p.P876P			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	887					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGGGCAACCCGAAGGCACTAT	0.597																																																	0													175.0	174.0	174.0					19																	18974274		2203	4300	6503	SO:0001819	synonymous_variant	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2661G>A	19.37:g.18974274G>A			O00239|O43343|Q86Z25|Q92842	Silent	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom	p.P887	ENST00000599848.1	37	c.2661		19																																																																																			UPF1	-	NULL		0.597	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	G	NM_002911		18974274	+1	no_errors	ENST00000599848	ensembl	human	known	70_37	silent	SNP	0.170	A
USP26	83844	genome.wustl.edu	37	X	132159901	132159901	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:132159901G>C	ENST00000511190.1	-	6	2817	c.2348C>G	c.(2347-2349)tCt>tGt	p.S783C	USP26_ENST00000370832.1_Missense_Mutation_p.S783C|USP26_ENST00000406273.1_Missense_Mutation_p.S783C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	783	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATTCCTGTTAGACTTCTGTAG	0.413																																					NSCLC(104;342 1621 36940 47097 52632)												0													110.0	109.0	109.0					X																	132159901		2203	4300	6503	SO:0001583	missense	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2348C>G	X.37:g.132159901G>C	ENSP00000423390:p.Ser783Cys		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S783C	ENST00000511190.1	37	c.2348	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	G	10.05	1.242903	0.22796	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.75821	-0.97;-0.97;-0.97	3.6	0.421	0.16451	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.665100	0.03936	N	0.286084	T	0.66925	0.2839	N	0.14661	0.345	0.09310	N	1	P	0.35774	0.519	P	0.48677	0.586	T	0.57063	-0.7875	10	0.48119	T	0.1	0.2279	2.0892	0.03653	0.1316:0.182:0.4837:0.2027	.	783	Q9BXU7	UBP26_HUMAN	C	783	ENSP00000359869:S783C;ENSP00000423390:S783C;ENSP00000384360:S783C	ENSP00000359869:S783C	S	-	2	0	USP26	131987567	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.502000	0.22594	-0.026000	0.13895	-0.318000	0.08688	TCT	USP26	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.413	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	G	NM_031907		132159901	-1	no_errors	ENST00000370832	ensembl	human	known	70_37	missense	SNP	0.000	C
USP39	10713	genome.wustl.edu	37	2	85876361	85876361	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:85876361G>C	ENST00000323701.6	+	0	2138				USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_3'UTR|USP39_ENST00000409470.1_3'UTR|USP39_ENST00000409025.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39						cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCCATTTCCTGATTTGTATTT	0.398											OREG0014749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	10713			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.*430G>C	2.37:g.85876361G>C		1240	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	RNA	SNP	-	NULL	ENST00000323701.6	37	NULL	CCDS33234.1	2																																																																																			USP39	-	-		0.398	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	G	NM_006590		85876361	+1	no_errors	ENST00000459775	ensembl	human	known	70_37	rna	SNP	0.000	C
USP37	57695	genome.wustl.edu	37	2	219330900	219330900	+	Splice_Site	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:219330900C>A	ENST00000258399.3	-	21	2712		c.e21-1		USP37_ENST00000418019.1_Splice_Site|USP37_ENST00000415516.1_Splice_Site|USP37_ENST00000454775.1_Splice_Site	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CTGGCAGGATCTGAGGAAGCA	0.358																																																	0													101.0	98.0	99.0					2																	219330900		2203	4300	6503	SO:0001630	splice_region_variant	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2300-1G>T	2.37:g.219330900C>A			A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Splice_Site	SNP	-	e18-1	ENST00000258399.3	37	c.2300-1	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864800	0.71949	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4742	0.87655	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP37	219039144	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.775000	0.68915	2.793000	0.96121	0.591000	0.81541	.	USP37	-	-		0.358	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	C	NM_020935	Intron	219330900	-1	no_errors	ENST00000258399	ensembl	human	known	70_37	splice_site	SNP	1.000	A
USP48	84196	genome.wustl.edu	37	1	22050544	22050544	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:22050544C>G	ENST00000308271.9	-	12	2143	c.1495G>C	c.(1495-1497)Gat>Cat	p.D499H	USP48_ENST00000400301.1_Missense_Mutation_p.D499H|USP48_ENST00000374732.3_Missense_Mutation_p.D38H|USP48_ENST00000529637.1_Missense_Mutation_p.D498H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	499	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GTTGATTCATCCAACCACTTT	0.403																																																	0													77.0	76.0	77.0					1																	22050544		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1495G>C	1.37:g.22050544C>G	ENSP00000309262:p.Asp499His		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.D499H	ENST00000308271.9	37	c.1495	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505318	0.85282	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637;ENST00000526044;ENST00000534705	T;T;T	0.42513	0.97;3.39;3.41	5.94	5.94	0.96194	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.087489	0.85682	D	0.000000	T	0.64560	0.2609	M	0.70595	2.14	0.80722	D	1	D;D;D;P;D	0.76494	0.999;0.958;0.958;0.855;0.999	D;P;P;P;D	0.65443	0.91;0.723;0.723;0.533;0.935	T	0.62487	-0.6844	10	0.49607	T	0.09	.	19.3475	0.94370	0.0:1.0:0.0:0.0	.	498;499;499;499;38	B7ZKS7;Q86UV5-3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	H	499;499;38;498;85;121	ENSP00000383157:D499H;ENSP00000309262:D499H;ENSP00000431949:D498H	ENSP00000309262:D499H	D	-	1	0	USP48	21923131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.807000	0.96579	0.591000	0.81541	GAT	USP48	-	NULL		0.403	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	C	NM_032236		22050544	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	1.000	G
VAMP5	10791	genome.wustl.edu	37	2	85820264	85820264	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:85820264C>G	ENST00000306384.4	+	3	418	c.335C>G	c.(334-336)tCa>tGa	p.S112*	RNF181_ENST00000306368.4_5'Flank|RNF181_ENST00000441634.1_5'Flank	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	112					cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						GGCATTGCCTCAGGGCCTGGG	0.582																																																	0													142.0	116.0	125.0					2																	85820264		2203	4300	6503	SO:0001587	stop_gained	10791			AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.335C>G	2.37:g.85820264C>G	ENSP00000305647:p.Ser112*		Q9P0T2	Nonsense_Mutation	SNP	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin	p.S112*	ENST00000306384.4	37	c.335	CCDS1980.1	2	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297677	0.40694	.	.	ENSG00000168899	ENST00000306384	.	.	.	4.48	3.59	0.41128	.	0.671285	0.11504	N	0.557449	.	.	.	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	7.4518	0.27242	0.0:0.8794:0.0:0.1206	.	.	.	.	X	112	.	ENSP00000305647:S112X	S	+	2	0	VAMP5	85673775	0.001000	0.12720	0.280000	0.24747	0.632000	0.37999	0.412000	0.21131	1.077000	0.40990	0.655000	0.94253	TCA	VAMP5	-	NULL		0.582	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP5	HGNC	protein_coding	OTTHUMT00000252484.2	C	NM_006634		85820264	+1	no_errors	ENST00000306384	ensembl	human	known	70_37	nonsense	SNP	0.050	G
VARS	7407	genome.wustl.edu	37	6	31749935	31749935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:31749935G>A	ENST00000375663.3	-	18	2610	c.2170C>T	c.(2170-2172)Cag>Tag	p.Q724*	VARS_ENST00000482996.1_5'UTR|VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	724					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CACCACAGCTGCCTGGAAATG	0.647																																																	0													46.0	49.0	48.0					6																	31749935		2203	4300	6503	SO:0001587	stop_gained	7407			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2170C>T	6.37:g.31749935G>A	ENSP00000364815:p.Gln724*		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Nonsense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.Q724*	ENST00000375663.3	37	c.2170	CCDS34412.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.723197|5.723197	0.96847|0.96847	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000428445|ENST00000375663	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.70789|.	0.3264|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75502|.	-0.3295|.	4|.	.|0.87932	.|D	.|0	-24.1742|-24.1742	16.0132|16.0132	0.80417|0.80417	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	41|724	.|.	.|ENSP00000364815:Q724X	A|Q	-|-	2|1	0|0	VARS|VARS	31857914|31857914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.848000|8.848000	0.92172|0.92172	2.373000|2.373000	0.80994|0.80994	0.563000|0.563000	0.77884|0.77884	GCA|CAG	VARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase		0.647	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2	G	NM_006295		31749935	-1	no_errors	ENST00000375663	ensembl	human	known	70_37	nonsense	SNP	1.000	A
VPRBP	9730	genome.wustl.edu	37	3	51458162	51458162	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:51458162G>A	ENST00000335891.5	-	7	924	c.915C>T	c.(913-915)atC>atT	p.I305I				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	754	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CCAGGGCCCGGATTTGGTCTG	0.557																																																	0													151.0	147.0	149.0					3																	51458162		1998	4165	6163	SO:0001819	synonymous_variant	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.915C>T	3.37:g.51458162G>A			Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.I305	ENST00000335891.5	37	c.915		3																																																																																			VPRBP	-	superfamily_ARM-type_fold		0.557	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		G	NM_014703		51458162	-1	no_errors	ENST00000335891	ensembl	human	known	70_37	silent	SNP	1.000	A
VPS13D	55187	genome.wustl.edu	37	1	12343083	12343083	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:12343083C>T	ENST00000358136.3	+	21	5054	c.4924C>T	c.(4924-4926)Ctt>Ttt	p.L1642F	VPS13D_ENST00000356315.4_Missense_Mutation_p.L1642F	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCCCAAGGTCTTGTGAGCTT	0.443																																																	0													96.0	103.0	100.0					1																	12343083		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4924C>T	1.37:g.12343083C>T	ENSP00000350854:p.Leu1642Phe			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.L1642F	ENST00000358136.3	37	c.4924	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608549	0.66558	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.61980	0.06;0.09	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.77332	-0.2627	10	0.56958	D	0.05	.	14.2675	0.66129	0.0:0.9293:0.0:0.0707	.	1642;1642	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	F	1642	ENSP00000348666:L1642F;ENSP00000350854:L1642F	ENSP00000348666:L1642F	L	+	1	0	VPS13D	12265670	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	2.375000	0.44283	2.756000	0.94617	0.561000	0.74099	CTT	VPS13D	-	NULL		0.443	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	C	NM_015378		12343083	+1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	1.000	T
VPS13D	55187	genome.wustl.edu	37	1	12557624	12557624	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:12557624G>C	ENST00000358136.3	+	68	12863	c.12733G>C	c.(12733-12735)Gag>Cag	p.E4245Q	VPS13D_ENST00000543766.1_Missense_Mutation_p.E243Q|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4220Q|VPS13D_ENST00000543710.1_Missense_Mutation_p.E49Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCGATATTCTGAGAGCCAGGC	0.537																																																	0													74.0	75.0	74.0					1																	12557624		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12733G>C	1.37:g.12557624G>C	ENSP00000350854:p.Glu4245Gln			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E4245Q	ENST00000358136.3	37	c.12733	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.689940	0.48097	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710	T;T;T	0.00730	5.77;5.77;5.77	6.03	6.03	0.97812	.	0.302249	0.40385	N	0.001118	T	0.01124	0.0037	N	0.25332	0.735	0.34271	D	0.680994	B;P;P	0.43701	0.284;0.806;0.815	B;P;B	0.44921	0.137;0.464;0.274	T	0.73685	-0.3905	10	0.11182	T	0.66	.	19.545	0.95291	0.0:0.0:1.0:0.0	.	243;4220;4244	F5GX56;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	Q	4220;4245;243;49	ENSP00000348666:E4220Q;ENSP00000350854:E4245Q;ENSP00000441122:E243Q	ENSP00000348666:E4220Q	E	+	1	0	VPS13D	12480211	1.000000	0.71417	0.965000	0.40720	0.523000	0.34469	5.839000	0.69395	2.861000	0.98227	0.655000	0.94253	GAG	VPS13D	-	NULL		0.537	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12557624	+1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	0.998	C
VPS35	55737	genome.wustl.edu	37	16	46706273	46706273	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:46706273G>A	ENST00000299138.7	-	11	1330	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	424					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGTACTCAAAGAGTGGGTGAA	0.353																																																	0													78.0	81.0	80.0					16																	46706273		2203	4300	6503	SO:0001819	synonymous_variant	55737			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1272C>T	16.37:g.46706273G>A			Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Silent	SNP	pfam_VPS35,superfamily_ARM-type_fold	p.L424	ENST00000299138.7	37	c.1272	CCDS10721.1	16																																																																																			VPS35	-	pfam_VPS35,superfamily_ARM-type_fold		0.353	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS35	HGNC	protein_coding	OTTHUMT00000255742.3	G			46706273	-1	no_errors	ENST00000299138	ensembl	human	known	70_37	silent	SNP	0.998	A
VPS37D	155382	genome.wustl.edu	37	7	73084430	73084430	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:73084430G>C	ENST00000324941.4	+	3	525	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	VPS37D_ENST00000451519.1_Intron	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCAGGAGGCAGAGGTGAGGGG	0.667																																																	0													9.0	11.0	10.0					7																	73084430		1781	3658	5439	SO:0001583	missense	155382			AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"""Williams Beuren syndrome chromosome region 24"", ""vacuolar protein sorting 37D (yeast)"""	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.391G>C	7.37:g.73084430G>C	ENSP00000320416:p.Glu131Gln			Missense_Mutation	SNP	pfam_Mod_r	p.E131Q	ENST00000324941.4	37	c.391	CCDS43596.1	7	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722563	0.89298	.	.	ENSG00000176428	ENST00000324941	D	0.82711	-1.64	5.15	5.15	0.70609	Modifier of rudimentary, Modr (2);	0.089454	0.42172	D	0.000753	D	0.89174	0.6640	M	0.64170	1.965	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.89874	0.4025	10	0.66056	D	0.02	.	14.1007	0.65054	0.0:0.0:1.0:0.0	.	131	Q86XT2	VP37D_HUMAN	Q	131	ENSP00000320416:E131Q	ENSP00000320416:E131Q	E	+	1	0	VPS37D	72722366	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.898000	0.75676	2.402000	0.81655	0.561000	0.74099	GAG	VPS37D	-	pfam_Mod_r		0.667	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37D	HGNC	protein_coding	OTTHUMT00000348064.1	G	NM_152560		73084430	+1	no_errors	ENST00000324941	ensembl	human	known	70_37	missense	SNP	1.000	C
WBP1	23559	genome.wustl.edu	37	2	74685709	74685709	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:74685709C>T	ENST00000233615.2	+	0	254				WBP1_ENST00000409737.1_5'UTR|WBP1_ENST00000393972.3_5'UTR|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1								WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CTGTGGTCCTCAGGGGGCTGT	0.697																																																	0													7.0	9.0	8.0					2																	74685709		2083	4072	6155	SO:0001623	5_prime_UTR_variant	23559			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.-21C>T	2.37:g.74685709C>T			B2RE02|O95637	RNA	SNP	-	NULL	ENST00000233615.2	37	NULL	CCDS1943.1	2																																																																																			WBP1	-	-		0.697	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WBP1	HGNC	protein_coding	OTTHUMT00000252221.2	C	NM_012477		74685709	+1	no_errors	ENST00000464774	ensembl	human	known	70_37	rna	SNP	0.993	T
WBP1	23559	genome.wustl.edu	37	2	74685750	74685750	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:74685750G>C	ENST00000233615.2	+	1	295	c.21G>C	c.(19-21)ggG>ggC	p.G7G	WBP1_ENST00000409737.1_Silent_p.G7G|WBP1_ENST00000393972.3_Silent_p.G7G|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	7							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCAGCAGCGGGAACGGCAGCG	0.662																																																	0													11.0	13.0	13.0					2																	74685750		2153	4223	6376	SO:0001819	synonymous_variant	23559			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.21G>C	2.37:g.74685750G>C			B2RE02|O95637	Silent	SNP	pfam_Uncharacterised_WW-bd	p.G7	ENST00000233615.2	37	c.21	CCDS1943.1	2																																																																																			WBP1	-	NULL		0.662	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WBP1	HGNC	protein_coding	OTTHUMT00000252221.2	G	NM_012477		74685750	+1	no_errors	ENST00000233615	ensembl	human	known	70_37	silent	SNP	0.999	C
WBP1	23559	genome.wustl.edu	37	2	74686631	74686631	+	Intron	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:74686631C>G	ENST00000233615.2	+	2	343				WBP1_ENST00000409737.1_Intron|WBP1_ENST00000393972.3_Intron|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1								WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						acactcctctcagcatcctcc	0.498																																																	0																																										SO:0001627	intron_variant	23559			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.70-139C>G	2.37:g.74686631C>G			B2RE02|O95637	RNA	SNP	-	NULL	ENST00000233615.2	37	NULL	CCDS1943.1	2																																																																																			WBP1	-	-		0.498	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WBP1	HGNC	protein_coding	OTTHUMT00000252221.2	C	NM_012477		74686631	+1	no_errors	ENST00000464774	ensembl	human	known	70_37	rna	SNP	0.004	G
WBSCR17	64409	genome.wustl.edu	37	7	71134986	71134986	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:71134986C>T	ENST00000333538.5	+	8	1930	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	432					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTGATGTCTCCGAAAGAAGAG	0.458																																																	0													94.0	95.0	95.0					7																	71134986		2203	4300	6503	SO:0001819	synonymous_variant	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1296C>T	7.37:g.71134986C>T			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S432	ENST00000333538.5	37	c.1296	CCDS5540.1	7																																																																																			WBSCR17	-	NULL		0.458	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	C	NM_022479		71134986	+1	no_errors	ENST00000333538	ensembl	human	known	70_37	silent	SNP	0.011	T
WDFY4	57705	genome.wustl.edu	37	10	49939252	49939252	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:49939252C>T	ENST00000325239.5	+	8	1254	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	WDFY4_ENST00000360890.2_Silent_p.I409I|WDFY4_ENST00000413659.2_Silent_p.I409I	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	409						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TGTCAGTCATCAGGACCATGT	0.532																																																	0													103.0	89.0	93.0					10																	49939252		692	1591	2283	SO:0001819	synonymous_variant	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.1227C>T	10.37:g.49939252C>T			B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I409	ENST00000325239.5	37	c.1227	CCDS44385.1	10																																																																																			WDFY4	-	superfamily_ARM-type_fold		0.532	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		C	XM_033379		49939252	+1	no_errors	ENST00000325239	ensembl	human	known	70_37	silent	SNP	0.998	T
WDR24	84219	genome.wustl.edu	37	16	739196	739196	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:739196C>G	ENST00000248142.6	-	3	630	c.631G>C	c.(631-633)Gac>Cac	p.D211H	WDR24_ENST00000293883.4_Missense_Mutation_p.D149H|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	211										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTGCGGAGGTCAAAGCACTTC	0.602																																																	0													85.0	77.0	80.0					16																	739196		2200	4300	6500	SO:0001583	missense	84219			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.631G>C	16.37:g.739196C>G	ENSP00000248142:p.Asp211His		A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D211H	ENST00000248142.6	37	c.631		16	.	.	.	.	.	.	.	.	.	.	c	18.26	3.584662	0.65992	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.47177	0.85;0.85	5.14	5.14	0.70334	.	0.104243	0.64402	D	0.000004	T	0.77336	0.4115	M	0.93808	3.46	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.83964	0.0323	10	0.72032	D	0.01	-19.0088	17.5824	0.87972	0.0:1.0:0.0:0.0	.	149	Q96S15-2	.	H	211;149	ENSP00000248142:D211H;ENSP00000293883:D149H	ENSP00000248142:D211H	D	-	1	0	WDR24	679197	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.218000	0.77991	2.391000	0.81399	0.561000	0.74099	GAC	WDR24	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.602	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		C	NM_032259		739196	-1	no_errors	ENST00000248142	ensembl	human	known	70_37	missense	SNP	1.000	G
WDR24	84219	genome.wustl.edu	37	16	739992	739992	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:739992C>T	ENST00000248142.6	-	2	168	c.169G>A	c.(169-171)Gat>Aat	p.D57N	WDR24_ENST00000293883.4_5'UTR|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	57										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCAGCCAGATCTGGGCAGTCA	0.622																																																	0																																										SO:0001583	missense	84219			AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.169G>A	16.37:g.739992C>T	ENSP00000248142:p.Asp57Asn		A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D57N	ENST00000248142.6	37	c.169		16	.	.	.	.	.	.	.	.	.	.	c	12.82	2.053662	0.36277	.	.	ENSG00000127580	ENST00000248142	T	0.81078	-1.45	2.75	-0.486	0.12064	.	.	.	.	.	T	0.67961	0.2949	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.54827	-0.8235	6	0.23302	T	0.38	.	6.8598	0.24060	0.0:0.6599:0.0:0.3401	.	.	.	.	N	57	ENSP00000248142:D57N	ENSP00000248142:D57N	D	-	1	0	WDR24	679993	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.060000	0.11712	-0.060000	0.13132	0.561000	0.74099	GAT	WDR24	-	NULL		0.622	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		C	NM_032259		739992	-1	no_errors	ENST00000248142	ensembl	human	known	70_37	missense	SNP	0.000	T
WDR26	80232	genome.wustl.edu	37	1	224621580	224621580	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:224621580G>A	ENST00000414423.2	-	1	421	c.228C>T	c.(226-228)gtC>gtT	p.V76V	WDR26_ENST00000295024.6_5'UTR|WDR26_ENST00000366852.2_Silent_p.V76V	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	76						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CCCCGTTATTGACATTCAGGC	0.706																																																	0													17.0	24.0	22.0					1																	224621580		692	1591	2283	SO:0001819	synonymous_variant	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.228C>T	1.37:g.224621580G>A			A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V76	ENST00000414423.2	37	c.228	CCDS31037.2	1																																																																																			WDR26	-	NULL		0.706	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	HGNC	protein_coding	OTTHUMT00000091760.2	G	NM_025160		224621580	-1	no_errors	ENST00000414423	ensembl	human	known	70_37	silent	SNP	1.000	A
WDR33	55339	genome.wustl.edu	37	2	128464072	128464072	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:128464072G>C	ENST00000322313.4	-	22	3994	c.3836C>G	c.(3835-3837)tCc>tGc	p.S1279C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1279					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCGTCTAAGGAGCTGGAACG	0.562																																																	0													76.0	82.0	80.0					2																	128464072		2203	4300	6503	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3836C>G	2.37:g.128464072G>C	ENSP00000325377:p.Ser1279Cys		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1279C	ENST00000322313.4	37	c.3836	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218362	0.58560	.	.	ENSG00000136709	ENST00000322313	D	0.90844	-2.74	5.23	5.23	0.72850	.	0.175200	0.40640	N	0.001049	D	0.91043	0.7182	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	D	0.92212	0.5777	10	0.51188	T	0.08	-9.1765	19.1668	0.93561	0.0:0.0:1.0:0.0	.	1279	Q9C0J8	WDR33_HUMAN	C	1279	ENSP00000325377:S1279C	ENSP00000325377:S1279C	S	-	2	0	WDR33	128180542	1.000000	0.71417	0.996000	0.52242	0.453000	0.32348	6.722000	0.74735	2.597000	0.87782	0.650000	0.86243	TCC	WDR33	-	NULL		0.562	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	G	NM_018383		128464072	-1	no_errors	ENST00000322313	ensembl	human	known	70_37	missense	SNP	1.000	C
WDR36	134430	genome.wustl.edu	37	5	110428117	110428117	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:110428117C>G	ENST00000513710.2	+	1	135	c.131C>G	c.(130-132)tCa>tGa	p.S44*	CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000506538.2_Nonsense_Mutation_p.S44*|WDR36_ENST00000505303.1_5'UTR			Q8NI36	WDR36_HUMAN	WD repeat domain 36	44					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGTTTTCCTTCAGGACCAGAG	0.637																																																	0													55.0	62.0	60.0					5																	110428117		2202	4300	6502	SO:0001587	stop_gained	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.131C>G	5.37:g.110428117C>G	ENSP00000424628:p.Ser44*		A2RUS4|Q68E02|Q8N1Q2	Nonsense_Mutation	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S44*	ENST00000513710.2	37	c.131	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469882	0.63625	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	.	.	.	5.22	-0.14	0.13456	.	1.610270	0.03994	N	0.295419	.	.	.	.	.	.	0.20307	N	0.999911	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	4.417	0.9911	0.01457	0.1516:0.3362:0.2565:0.2556	.	.	.	.	X	44	.	ENSP00000423067:S44X	S	+	2	0	WDR36	110456016	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.577000	0.02127	-0.282000	0.09128	-0.345000	0.07892	TCA	WDR36	-	NULL		0.637	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	C	NM_139281		110428117	+1	no_errors	ENST00000506538	ensembl	human	known	70_37	nonsense	SNP	0.000	G
WDR47	22911	genome.wustl.edu	37	1	109553686	109553686	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:109553686C>T	ENST00000369962.3	-	5	1204	c.982G>A	c.(982-984)Gat>Aat	p.D328N	WDR47_ENST00000357672.3_Missense_Mutation_p.D300N|WDR47_ENST00000361054.3_Missense_Mutation_p.D300N|WDR47_ENST00000400794.3_Missense_Mutation_p.D335N|WDR47_ENST00000369965.4_Missense_Mutation_p.D328N			O94967	WDR47_HUMAN	WD repeat domain 47	328					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTCTCTTATCATGACTGGTT	0.443																																																	0													211.0	234.0	226.0					1																	109553686		2203	4296	6499	SO:0001583	missense	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.982G>A	1.37:g.109553686C>T	ENSP00000358979:p.Asp328Asn		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D335N	ENST00000369962.3	37	c.1003	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981243	0.53827	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55588	0.51;0.55;0.51;0.51;0.51	5.33	5.33	0.75918	.	0.110726	0.64402	D	0.000018	T	0.31358	0.0794	N	0.22421	0.69	0.51767	D	0.999937	B;B;B;B	0.32245	0.241;0.321;0.321;0.361	B;B;B;B	0.37304	0.196;0.136;0.136;0.246	T	0.15867	-1.0422	10	0.25106	T	0.35	-10.2755	19.0191	0.92906	0.0:1.0:0.0:0.0	.	300;335;328;328	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	N	335;328;300;328;300	ENSP00000383599:D335N;ENSP00000358979:D328N;ENSP00000354339:D300N;ENSP00000358982:D328N;ENSP00000350301:D300N	ENSP00000350301:D300N	D	-	1	0	WDR47	109355209	1.000000	0.71417	0.992000	0.48379	0.959000	0.62525	7.487000	0.81328	2.479000	0.83701	0.467000	0.42956	GAT	WDR47	-	NULL		0.443	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	C	NM_014969		109553686	-1	no_errors	ENST00000400794	ensembl	human	known	70_37	missense	SNP	1.000	T
NUB1	51667	genome.wustl.edu	37	7	151074056	151074056	+	Intron	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:151074056G>C	ENST00000355851.4	+	15	1746				NUB1_ENST00000413040.2_Intron|NUB1_ENST00000568733.1_Intron|WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000566856.1_Intron	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1						positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GGCACAGTCTGAGGTTGACTG	0.572																																																	0																																										SO:0001627	intron_variant	349136			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1670-77G>C	7.37:g.151074056G>C			O95422|Q75MR9|Q8IX22|Q9BXR2	RNA	SNP	-	NULL	ENST00000355851.4	37	NULL		7																																																																																			WDR86	-	-		0.572	NUB1-201	KNOWN	basic|appris_principal	protein_coding	WDR86	HGNC	protein_coding		G	NM_016118		151074056	-1	no_errors	ENST00000463000	ensembl	human	known	70_37	rna	SNP	0.001	C
WDR93	56964	genome.wustl.edu	37	15	90276398	90276398	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr15:90276398C>G	ENST00000268130.7	+	13	1593	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	WDR93_ENST00000560294.1_Missense_Mutation_p.L470V|WDR93_ENST00000444934.2_Missense_Mutation_p.L215V	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	498					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCCCTCCATCTGGTGGAGGC	0.488																																																	0													74.0	74.0	74.0					15																	90276398		2200	4299	6499	SO:0001583	missense	56964				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1492C>G	15.37:g.90276398C>G	ENSP00000268130:p.Leu498Val		Q8N7Y8|Q9NP89	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.L498V	ENST00000268130.7	37	c.1492	CCDS32326.1	15	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440763	0.43326	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.28666	1.6;2.37	5.6	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.52532	D	0.000069	T	0.49830	0.1580	M	0.73598	2.24	0.27934	N	0.937755	D;D	0.76494	0.999;0.999	D;D	0.71870	0.937;0.975	T	0.46857	-0.9161	10	0.15499	T	0.54	-14.844	11.6869	0.51492	0.1772:0.8228:0.0:0.0	.	470;498	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	V	498;215	ENSP00000268130:L498V;ENSP00000403871:L215V	ENSP00000268130:L498V	L	+	1	2	WDR93	88077402	0.980000	0.34600	0.742000	0.31022	0.411000	0.31082	2.640000	0.46579	1.325000	0.45301	0.551000	0.68910	CTG	WDR93	-	superfamily_WD40_repeat_dom		0.488	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	HGNC	protein_coding	OTTHUMT00000416369.1	C	NM_020212		90276398	+1	no_errors	ENST00000268130	ensembl	human	known	70_37	missense	SNP	0.965	G
WIZ	58525	genome.wustl.edu	37	19	15540510	15540510	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:15540510G>A	ENST00000389282.4	-	5	3200	c.2987C>T	c.(2986-2988)tCc>tTc	p.S996F	WIZ_ENST00000545156.1_Missense_Mutation_p.S177F|WIZ_ENST00000599910.2_Missense_Mutation_p.S180F|WIZ_ENST00000263381.7_Intron|WIZ_ENST00000599686.3_Missense_Mutation_p.S180F			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	996					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AGGGGTAGGGGAGCCCGCCAG	0.657																																																	0																																										SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2987C>T	19.37:g.15540510G>A	ENSP00000373933:p.Ser996Phe		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S996F	ENST00000389282.4	37	c.2987		19	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396917	0.62177	.	.	ENSG00000011451	ENST00000389282;ENST00000416927;ENST00000545156	T	0.03386	3.95	4.92	3.88	0.44766	.	0.000000	0.53938	D	0.000051	T	0.09158	0.0226	.	.	.	0.25596	N	0.986647	D;P	0.61080	0.989;0.868	P;B	0.53689	0.732;0.23	T	0.05131	-1.0904	9	0.62326	D	0.03	-32.8929	10.2827	0.43550	0.0934:0.0:0.9066:0.0	.	996;180	O95785;B3KVH1	WIZ_HUMAN;.	F	996;180;177	ENSP00000373933:S996F	ENSP00000373933:S996F	S	-	2	0	WIZ	15401510	1.000000	0.71417	0.964000	0.40570	0.703000	0.40648	6.635000	0.74295	1.087000	0.41251	0.485000	0.47835	TCC	WIZ	-	NULL		0.657	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		G	NM_021241		15540510	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	0.994	A
WNK3	65267	genome.wustl.edu	37	X	54264792	54264792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:54264792G>A	ENST00000375159.2	-	18	3996	c.3997C>T	c.(3997-3999)Cag>Tag	p.Q1333*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.Q1333*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.Q1286*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1333					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CGACCCCGCTGAAATGATCCA	0.443																																																	0													104.0	89.0	95.0					X																	54264792		2203	4300	6503	SO:0001587	stop_gained	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3997C>T	X.37:g.54264792G>A	ENSP00000364301:p.Gln1333*		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q1333*	ENST00000375159.2	37	c.3997	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	42	9.395824	0.99158	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.17	5.17	0.71159	.	0.000000	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2791	11.6912	0.51516	0.0:0.0:0.8229:0.1771	.	.	.	.	X	1286;1333;1333	.	ENSP00000346667:Q1333X	Q	-	1	0	WNK3	54281517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.358000	0.52284	2.144000	0.66660	0.600000	0.82982	CAG	WNK3	-	NULL		0.443	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	G	NM_020922		54264792	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WTAP	9589	genome.wustl.edu	37	6	160176556	160176556	+	Silent	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:160176556G>C	ENST00000358372.4	+	8	2861	c.1104G>C	c.(1102-1104)gtG>gtC	p.V368V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	368					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AGAAAGCAGTGAGTGGGAAAG	0.458																																																	0													85.0	90.0	89.0					6																	160176556		2203	4300	6503	SO:0001819	synonymous_variant	9589			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.1104G>C	6.37:g.160176556G>C			Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	NULL	p.V368	ENST00000358372.4	37	c.1104	CCDS5266.1	6																																																																																			WTAP	-	NULL		0.458	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTAP	HGNC	protein_coding	OTTHUMT00000042905.1	G	NM_152857		160176556	+1	no_errors	ENST00000358372	ensembl	human	known	70_37	silent	SNP	1.000	C
XIRP2	129446	genome.wustl.edu	37	2	168067270	168067270	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:168067270G>A	ENST00000409728.1	+	5	776	c.687G>A	c.(685-687)gaG>gaA	p.E229E	XIRP2_ENST00000295237.9_Silent_p.E196E|XIRP2_ENST00000409043.1_Silent_p.E196E|XIRP2_ENST00000420519.1_Silent_p.E229E|XIRP2_ENST00000409195.1_Silent_p.E196E|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000409756.2_Silent_p.E196E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	21					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAAGCCTGAGAGTGGATTTG	0.517																																																	0													142.0	147.0	146.0					2																	168067270		2036	4190	6226	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.687G>A	2.37:g.168067270G>A			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.E196	ENST00000409728.1	37	c.588	CCDS56143.1	2																																																																																			XIRP2	-	NULL		0.517	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168067270	+1	no_errors	ENST00000295237	ensembl	human	known	70_37	silent	SNP	0.000	A
XK	7504	genome.wustl.edu	37	X	37545231	37545231	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:37545231C>T	ENST00000378616.3	+	1	220	c.17C>T	c.(16-18)tCg>tTg	p.S6L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	6					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TTCCCGGCCTCGGTGCTGGCG	0.731																																																	0													15.0	14.0	15.0					X																	37545231		2197	4285	6482	SO:0001583	missense	7504			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.17C>T	X.37:g.37545231C>T	ENSP00000367879:p.Ser6Leu		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.S6L	ENST00000378616.3	37	c.17	CCDS14241.1	X	.	.	.	.	.	.	.	.	.	.	c	29.4	5.005576	0.93287	.	.	ENSG00000047597	ENST00000378616	T	0.61040	0.14	5.52	4.65	0.58169	.	0.112431	0.64402	D	0.000006	T	0.75613	0.3873	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77376	-0.2611	10	0.49607	T	0.09	2.7337	14.9076	0.70733	0.1444:0.8556:0.0:0.0	.	6	P51811	XK_HUMAN	L	6	ENSP00000367879:S6L	ENSP00000367879:S6L	S	+	2	0	XK	37430150	0.996000	0.38824	0.802000	0.32245	0.953000	0.61014	3.437000	0.52863	1.081000	0.41110	0.502000	0.49764	TCG	XK	-	pfam_Transport_prot_XK		0.731	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XK	HGNC	protein_coding	OTTHUMT00000080875.1	C	NM_021083		37545231	+1	no_errors	ENST00000378616	ensembl	human	known	70_37	missense	SNP	0.992	T
XRN2	22803	genome.wustl.edu	37	20	21284093	21284093	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:21284093C>T	ENST00000377191.3	+	1	152	c.57C>T	c.(55-57)gtC>gtT	p.V19V	XRN2_ENST00000430571.2_5'UTR|XRN2_ENST00000539513.1_5'Flank	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	19					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCATCATAGTCAACTGCGTGG	0.716																																																	0													21.0	23.0	22.0					20																	21284093		1700	3117	4817	SO:0001819	synonymous_variant	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.57C>T	20.37:g.21284093C>T			Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Silent	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.V19	ENST00000377191.3	37	c.57	CCDS13144.1	20																																																																																			XRN2	-	pfam_Put_53exo,pirsf_5_3_exoribonuclease_2		0.716	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	C	NM_012255		21284093	+1	no_errors	ENST00000377191	ensembl	human	known	70_37	silent	SNP	1.000	T
XKR7	343702	genome.wustl.edu	37	20	30585105	30585105	+	Missense_Mutation	SNP	C	C	T	rs143869401		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:30585105C>T	ENST00000562532.2	+	3	1759	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	529						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGACTTGCCTCGCAAGAAGTA	0.642																																																	0								C	CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	47.0	54.0	52.0		1585	2.9	0.5	20	dbSNP_134	52	0,8600		0,0,4300	no	missense	XKR7	NM_001011718.1	180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	529/580	30585105	1,13003	2202	4300	6502	SO:0001583	missense	343702			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1585C>T	20.37:g.30585105C>T	ENSP00000477059:p.Arg529Cys		Q9NUG5	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R529C	ENST00000562532.2	37	c.1585	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835637	0.50951	2.27E-4	0.0	ENSG00000101321	ENST00000217299	.	.	.	4.85	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.74467	2.265	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.78329	-0.2246	9	0.87932	D	0	-1.0593	12.3583	0.55188	0.4328:0.5672:0.0:0.0	.	529	Q5GH72	XKR7_HUMAN	C	529	.	ENSP00000217299:R529C	R	+	1	0	XKR7	30048766	0.987000	0.35691	0.472000	0.27241	0.941000	0.58515	2.775000	0.47702	0.606000	0.29965	0.561000	0.74099	CGC	XKR7	-	NULL		0.642	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	C	NM_001011718		30585105	+1	no_errors	ENST00000217299	ensembl	human	known	70_37	missense	SNP	0.900	T
XRRA1	143570	genome.wustl.edu	37	11	74651876	74651876	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr11:74651876C>G	ENST00000340360.6	-	3	379	c.48G>C	c.(46-48)ctG>ctC	p.L16L	XRRA1_ENST00000533598.1_Intron|XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Silent_p.L16L	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						AGCAGTTGTTCAGGTAAGGCT	0.507																																																	0													58.0	59.0	58.0					11																	74651876		2168	4282	6450	SO:0001819	synonymous_variant	143570			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.48G>C	11.37:g.74651876C>G				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L16	ENST00000340360.6	37	c.48	CCDS44680.1	11																																																																																			XRRA1	-	NULL		0.507	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	C	NM_182969		74651876	-1	no_errors	ENST00000340360	ensembl	human	known	70_37	silent	SNP	0.935	G
XYLT2	64132	genome.wustl.edu	37	17	48432882	48432882	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:48432882C>T	ENST00000017003.2	+	5	1077	c.1028C>T	c.(1027-1029)gCa>gTa	p.A343V	XYLT2_ENST00000507602.1_Missense_Mutation_p.A343V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	343					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GAGCTGGTGGCATTCCTATCC	0.577																																																	0													74.0	66.0	69.0					17																	48432882		2203	4300	6503	SO:0001583	missense	64132			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1028C>T	17.37:g.48432882C>T	ENSP00000017003:p.Ala343Val		Q6UY41|Q86V00	Missense_Mutation	SNP	pfam_XylT,pfam_Glyco_trans_14	p.A343V	ENST00000017003.2	37	c.1028	CCDS11563.1	17	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148646	0.57151	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11930	2.73;2.73	4.47	4.47	0.54385	.	0.429012	0.25935	N	0.027342	T	0.16471	0.0396	L	0.49256	1.55	0.41768	D	0.989756	P	0.35307	0.494	B	0.43155	0.41	T	0.02917	-1.1094	10	0.31617	T	0.26	-10.6094	8.0297	0.30457	0.0:0.8136:0.0:0.1864	.	343	Q9H1B5	XYLT2_HUMAN	V	343	ENSP00000017003:A343V;ENSP00000426501:A343V	ENSP00000017003:A343V	A	+	2	0	XYLT2	45787881	0.940000	0.31905	1.000000	0.80357	0.969000	0.65631	2.011000	0.40922	2.347000	0.79759	0.456000	0.33151	GCA	XYLT2	-	pfam_Glyco_trans_14		0.577	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1	C	NM_022167		48432882	+1	no_errors	ENST00000017003	ensembl	human	known	70_37	missense	SNP	0.997	T
YIPF3	25844	genome.wustl.edu	37	6	43483440	43483440	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:43483440C>T	ENST00000372422.2	-	3	471		c.e3-1		YIPF3_ENST00000506469.1_Splice_Site|POLR1C_ENST00000372389.3_5'Flank|POLR1C_ENST00000304004.3_5'Flank|POLR1C_ENST00000372344.2_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3						cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCTGCCACATCTGAAGTAAGG	0.488																																																	0													77.0	73.0	74.0					6																	43483440		2203	4300	6503	SO:0001630	splice_region_variant	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.289-1G>A	6.37:g.43483440C>T			Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Splice_Site	SNP	-	e3-1	ENST00000372422.2	37	c.289-1	CCDS4899.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108133	0.77096	.	.	ENSG00000137207	ENST00000372422;ENST00000506469;ENST00000503972;ENST00000511831	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2602	0.90033	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YIPF3	43591418	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.397000	0.79903	2.758000	0.94735	0.460000	0.39030	.	YIPF3	-	-		0.488	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF3	HGNC	protein_coding	OTTHUMT00000040639.2	C	NM_015388	Intron	43483440	-1	no_errors	ENST00000372422	ensembl	human	known	70_37	splice_site	SNP	1.000	T
YTHDC1	91746	genome.wustl.edu	37	4	69203421	69203421	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr4:69203421C>G	ENST00000344157.4	-	3	663	c.328G>C	c.(328-330)Gat>Cat	p.D110H	YTHDC1_ENST00000579690.1_Missense_Mutation_p.D110H|YTHDC1_ENST00000355665.3_Missense_Mutation_p.D110H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	110					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGATCAGCATCTAGACGCTTG	0.378																																																	0													166.0	159.0	162.0					4																	69203421		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.328G>C	4.37:g.69203421C>G	ENSP00000339245:p.Asp110His		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.D110H	ENST00000344157.4	37	c.328	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568582	0.65651	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.29655	1.88;1.56	4.84	4.84	0.62591	.	0.229658	0.43416	D	0.000578	T	0.41511	0.1162	N	0.19112	0.55	0.58432	D	0.999995	D;B	0.69078	0.997;0.172	D;B	0.66847	0.947;0.243	T	0.42699	-0.9436	10	0.59425	D	0.04	.	18.8339	0.92153	0.0:1.0:0.0:0.0	.	110;110	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	110	ENSP00000339245:D110H;ENSP00000347888:D110H	ENSP00000339245:D110H	D	-	1	0	YTHDC1	68886016	1.000000	0.71417	0.977000	0.42913	0.970000	0.65996	5.465000	0.66725	2.597000	0.87782	0.585000	0.79938	GAT	YTHDC1	-	NULL		0.378	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	C	NM_133370		69203421	-1	no_errors	ENST00000344157	ensembl	human	known	70_37	missense	SNP	0.997	G
ZAK	51776	genome.wustl.edu	37	2	174074485	174074485	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:174074485C>G	ENST00000375213.3	+	10	851	c.773C>G	c.(772-774)tCa>tGa	p.S258*	MLTK_ENST00000409176.2_Nonsense_Mutation_p.S258*|MLTK_ENST00000338983.3_Nonsense_Mutation_p.S258*|MLK7-AS1_ENST00000419609.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000539448.1_Nonsense_Mutation_p.S258*|MLTK_ENST00000431503.2_Nonsense_Mutation_p.S157*|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAAATCATTTCAATCCTGGAG	0.443																																																	0													110.0	100.0	103.0					2																	174074485		2203	4300	6503	SO:0001587	stop_gained	51776																														ENST00000375213.3:c.773C>G	2.37:g.174074485C>G	ENSP00000364361:p.Ser258*		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S258*	ENST00000375213.3	37	c.773	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.392945	0.97529	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	.	.	.	5.97	5.09	0.68999	.	0.309868	0.36268	N	0.002697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	15.0374	0.71761	0.0:0.9321:0.0:0.0679	.	.	.	.	X	258;258;258;157;258	.	ENSP00000340257:S258X	S	+	2	0	AC013461.1	173782731	0.974000	0.33945	0.987000	0.45799	0.997000	0.91878	2.408000	0.44574	1.535000	0.49220	0.591000	0.81541	TCA	MLTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.443	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_genename	protein_coding	OTTHUMT00000255401.1	C			174074485	+1	no_errors	ENST00000375213	ensembl	human	known	70_37	nonsense	SNP	1.000	G
ZAR1L	646799	genome.wustl.edu	37	13	32885681	32885681	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr13:32885681G>T	ENST00000533490.2	-	3	800	c.382C>A	c.(382-384)Cca>Aca	p.P128T	ZAR1L_ENST00000345108.6_Missense_Mutation_p.P128T			A6NP61	ZAR1L_HUMAN	zygote arrest 1-like	128						cytoplasm (GO:0005737)				NS(1)|kidney(1)	2						CCACAGGCTGGCAGGGGCTCC	0.726																																																	0													2.0	3.0	3.0					13																	32885681		517	1323	1840	SO:0001583	missense	646799				CCDS45023.1	13q13.1	2014-02-20			ENSG00000189167	ENSG00000189167			37116	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 7"""					18442940	Standard	NM_001136571		Approved	Z3CXXC7	uc010abc.1	A6NP61	OTTHUMG00000016694	ENST00000533490.2:c.382C>A	13.37:g.32885681G>T	ENSP00000437289:p.Pro128Thr		B2RV03|B7ZBU2	Missense_Mutation	SNP	NULL	p.P128T	ENST00000533490.2	37	c.382	CCDS45023.1	13	.	.	.	.	.	.	.	.	.	.	g	6.171	0.399811	0.11696	.	.	ENSG00000189167	ENST00000345108	.	.	.	4.42	-4.82	0.03171	.	2.036120	0.02411	N	0.081682	T	0.17789	0.0427	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.08186	-1.0734	9	0.14656	T	0.56	7.0281	1.2425	0.01966	0.1608:0.2116:0.3123:0.3153	.	128	A6NP61	ZAR1L_HUMAN	T	128	.	ENSP00000344616:P128T	P	-	1	0	ZAR1L	31783681	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.494000	0.02296	-0.975000	0.03546	0.556000	0.70494	CCA	ZAR1L	-	NULL		0.726	ZAR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAR1L	HGNC	protein_coding	OTTHUMT00000044403.5	G			32885681	-1	no_errors	ENST00000345108	ensembl	human	known	70_37	missense	SNP	0.000	T
ZBBX	79740	genome.wustl.edu	37	3	167051764	167051764	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:167051764G>C	ENST00000392766.2	-	10	878	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	ZBBX_ENST00000392764.1_Missense_Mutation_p.Q151E|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q180E|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q180E|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q180E|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	180						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						AATAATATTTGAGATTTTGCC	0.279																																																	0													64.0	57.0	59.0					3																	167051764		1785	4060	5845	SO:0001583	missense	79740			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.538C>G	3.37:g.167051764G>C	ENSP00000376519:p.Gln180Glu		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.Q180E	ENST00000392766.2	37	c.538	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	G	8.470	0.857412	0.17106	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.10763	3.01;3.01;3.0;3.0;2.84	4.79	3.9	0.45041	.	0.259578	0.19817	U	0.105406	T	0.12944	0.0314	L	0.56769	1.78	0.32055	N	0.596478	B;B	0.15930	0.015;0.009	B;B	0.19946	0.027;0.012	T	0.03545	-1.1026	10	0.36615	T	0.2	-7.9906	11.4442	0.50114	0.0:0.1818:0.8182:0.0	.	180;180	A8MT70-2;A8MT70	.;ZBBX_HUMAN	E	180;180;180;180;151	ENSP00000376519:Q180E;ENSP00000376520:Q180E;ENSP00000390232:Q180E;ENSP00000305065:Q180E;ENSP00000376517:Q151E	ENSP00000305065:Q180E	Q	-	1	0	ZBBX	168534458	1.000000	0.71417	0.997000	0.53966	0.356000	0.29392	2.349000	0.44054	1.093000	0.41377	0.650000	0.86243	CAA	ZBBX	-	NULL		0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	G	NM_024687		167051764	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	missense	SNP	0.999	C
ZBTB17	7709	genome.wustl.edu	37	1	16272682	16272682	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:16272682C>G	ENST00000375743.4	-	5	734	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000537142.1_Missense_Mutation_p.E86Q|ZBTB17_ENST00000448462.2_Missense_Mutation_p.E105Q|ZBTB17_ENST00000375733.2_Missense_Mutation_p.E168Q	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	168					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCCGCGCTCCTCCTTGAGG	0.667																																																	0													91.0	90.0	90.0					1																	16272682		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.502G>C	1.37:g.16272682C>G	ENSP00000364895:p.Glu168Gln		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E168Q	ENST00000375743.4	37	c.502	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354054	0.41700	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000537142;ENST00000448462	T;T;T;T	0.12774	2.66;2.65;2.87;2.95	4.39	4.39	0.52855	.	0.428844	0.23239	N	0.050362	T	0.17662	0.0424	N	0.11560	0.145	0.38677	D	0.952452	P;D;D;B;B;B;B	0.63880	0.473;0.981;0.993;0.047;0.047;0.275;0.015	B;P;D;B;B;B;B	0.70227	0.091;0.783;0.968;0.015;0.022;0.076;0.007	T	0.12344	-1.0551	10	0.66056	D	0.02	.	11.1801	0.48623	0.0:0.8125:0.1875:0.0	.	168;92;105;168;86;168;168	B4DGV6;B4DYU5;E7EPQ4;Q13105-2;F5H411;B2RCP2;Q13105	.;.;.;.;.;.;ZBT17_HUMAN	Q	168;168;86;105	ENSP00000364895:E168Q;ENSP00000364885:E168Q;ENSP00000438529:E86Q;ENSP00000391002:E105Q	ENSP00000364885:E168Q	E	-	1	0	ZBTB17	16145269	0.002000	0.14202	1.000000	0.80357	0.084000	0.17831	1.174000	0.31932	2.368000	0.80403	0.462000	0.41574	GAG	ZBTB17	-	NULL		0.667	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16272682	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	G
ZBTB40	9923	genome.wustl.edu	37	1	22817950	22817950	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:22817950C>G	ENST00000375647.4	+	3	962	c.755C>G	c.(754-756)tCa>tGa	p.S252*	ZBTB40_ENST00000374651.4_Nonsense_Mutation_p.S252*|ZBTB40_ENST00000404138.1_Nonsense_Mutation_p.S252*	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	252					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GGTGTCTTCTCAGATGCACTC	0.348																																																	0													76.0	82.0	80.0					1																	22817950		2203	4300	6503	SO:0001587	stop_gained	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.755C>G	1.37:g.22817950C>G	ENSP00000364798:p.Ser252*		O75066|Q5TFU5|Q8N1R1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S252*	ENST00000375647.4	37	c.755	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.686029	0.98914	.	.	ENSG00000184677	ENST00000404138;ENST00000374649;ENST00000375647;ENST00000400239;ENST00000374651	.	.	.	5.57	5.57	0.84162	.	0.000000	0.46145	D	0.000311	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.2729	13.8082	0.63246	0.0:0.8464:0.1535:0.0	.	.	.	.	X	252;206;252;252;252	.	ENSP00000363780:S206X	S	+	2	0	ZBTB40	22690537	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.248000	0.51430	2.617000	0.88574	0.585000	0.79938	TCA	ZBTB40	-	NULL		0.348	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	C	NM_014870		22817950	+1	no_errors	ENST00000375647	ensembl	human	known	70_37	nonsense	SNP	1.000	G
ZC3H11A	9877	genome.wustl.edu	37	1	203770893	203770893	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr1:203770893C>G	ENST00000545588.1	+	0	2431				ZC3H11A_ENST00000466470.1_3'UTR|ZC3H11A_ENST00000332127.4_Intron|ZC3H11A_ENST00000367212.3_Intron|ZC3H11A_ENST00000367214.1_Intron	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGCTGGTTTCAAAGTTTAGA	0.259																																																	0																																										SO:0001623	5_prime_UTR_variant	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.-1397C>G	1.37:g.203770893C>G			Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	RNA	SNP	-	NULL	ENST00000545588.1	37	NULL	CCDS30978.1	1																																																																																			ZC3H11A	-	-		0.259	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	C	NM_014827		203770893	+1	no_errors	ENST00000461980	ensembl	human	known	70_37	rna	SNP	1.000	G
ZFHX4	79776	genome.wustl.edu	37	8	77767525	77767525	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:77767525G>A	ENST00000521891.2	+	10	8816	c.8368G>A	c.(8368-8370)Gag>Aag	p.E2790K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2764K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2745K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2745K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2745					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)	p.E2774K(1)		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)			CCCTCCTGCTGAGGCTGGGTA	0.428										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	lung(1)											34.0	33.0	33.0					8																	77767525		1880	4130	6010	SO:0001583	missense	79776				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.8368G>A	8.37:g.77767525G>A	ENSP00000430497:p.Glu2790Lys		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.E2790K	ENST00000521891.2	37	c.8368	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021687	0.19433	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.78;0.77	4.97	4.97	0.65823	.	0.312656	0.22473	U	0.059588	T	0.39253	0.1071	L	0.27053	0.805	0.38416	D	0.946051	B;B;B	0.21520	0.01;0.016;0.057	B;B;B	0.28232	0.04;0.087;0.087	T	0.23726	-1.0180	10	0.20046	T	0.44	.	18.4163	0.90571	0.0:0.0:1.0:0.0	.	2745;2745;2790	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2790;2774;2745;2745;2764	ENSP00000430497:E2790K;ENSP00000399605:E2745K;ENSP00000050961:E2745K;ENSP00000430848:E2764K	ENSP00000050961:E2745K	E	+	1	0	ZFHX4	77930080	1.000000	0.71417	0.442000	0.26870	0.439000	0.31926	7.674000	0.83992	2.583000	0.87209	0.555000	0.69702	GAG	ZFHX4	-	NULL		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77767525	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	0.998	A
ZFHX4	79776	genome.wustl.edu	37	8	77776073	77776073	+	Nonsense_Mutation	SNP	G	G	T	rs267602007		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:77776073G>T	ENST00000521891.2	+	11	10571	c.10123G>T	c.(10123-10125)Gaa>Taa	p.E3375*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E3349*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E3326*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E3330*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3326					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)			TACTGCTACAGAAAGCACAAA	0.413										HNSCC(33;0.089)																																							0													30.0	28.0	28.0					8																	77776073		1854	4080	5934	SO:0001587	stop_gained	79776				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.10123G>T	8.37:g.77776073G>T	ENSP00000430497:p.Glu3375*		G3V138|Q18PS0|Q6ZN20	Nonsense_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.E3375*	ENST00000521891.2	37	c.10123	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	51	18.507429	0.99906	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.5	4.5	0.54988	.	0.000000	0.45867	U	0.000336	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.3934	0.87439	0.0:0.0:1.0:0.0	.	.	.	.	X	3375;3359;3330;3326;3349	.	ENSP00000050961:E3326X	E	+	1	0	ZFHX4	77938628	1.000000	0.71417	0.961000	0.40146	0.973000	0.67179	7.668000	0.83897	2.354000	0.79902	0.609000	0.83330	GAA	ZFHX4	-	NULL		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77776073	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZFP2	80108	genome.wustl.edu	37	5	178358759	178358759	+	Missense_Mutation	SNP	C	C	G	rs372828482		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:178358759C>G	ENST00000361362.2	+	5	975	c.445C>G	c.(445-447)Caa>Gaa	p.Q149E	ZFP2_ENST00000523286.1_Missense_Mutation_p.Q149E|ZFP2_ENST00000503510.2_Missense_Mutation_p.Q149E|ZFP2_ENST00000520301.1_Missense_Mutation_p.Q149E	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TACTGTACATCAAAGAATTCA	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19983	0.0		0.0	False		,,,				2504	0.0																0								C	GLU/GLN	1,4405	2.1+/-5.4	0,1,2202	52.0	55.0	54.0		445	3.8	1.0	5		54	0,8600		0,0,4300	no	missense	ZFP2	NM_030613.2	29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging	149/462	178358759	1,13005	2203	4300	6503	SO:0001583	missense	80108			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.445C>G	5.37:g.178358759C>G	ENSP00000354453:p.Gln149Glu		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q149E	ENST00000361362.2	37	c.445	CCDS4440.1	5	.	.	.	.	.	.	.	.	.	.	c	13.11	2.139169	0.37728	2.27E-4	0.0	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	4.71	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31312	N	0.007865	T	0.06508	0.0167	N	0.03209	-0.39	0.25061	N	0.991065	P	0.36048	0.534	B	0.32805	0.153	T	0.15954	-1.0419	10	0.62326	D	0.03	-10.966	6.7546	0.23505	0.0:0.7226:0.1797:0.0977	.	149	Q6ZN57	ZFP2_HUMAN	E	149	ENSP00000354453:Q149E;ENSP00000430980:Q149E;ENSP00000430531:Q149E;ENSP00000438114:Q149E	ENSP00000354453:Q149E	Q	+	1	0	ZFP2	178291365	0.000000	0.05858	1.000000	0.80357	0.725000	0.41563	0.219000	0.17641	2.425000	0.82216	0.591000	0.81541	CAA	ZFP2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP2	HGNC	protein_coding	OTTHUMT00000253470.2	C	NM_030613		178358759	+1	no_errors	ENST00000361362	ensembl	human	known	70_37	missense	SNP	0.998	G
ZHX1	11244	genome.wustl.edu	37	8	124266326	124266326	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:124266326T>A	ENST00000522655.1	-	3	2401	c.1861A>T	c.(1861-1863)Aaa>Taa	p.K621*	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Nonsense_Mutation_p.K621*|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.K621*			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	621					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTTTTGATTTCTTCTTCTCT	0.373																																																	0													116.0	123.0	121.0					8																	124266326		2203	4300	6503	SO:0001587	stop_gained	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1861A>T	8.37:g.124266326T>A	ENSP00000428821:p.Lys621*		Q8IWD8	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.K621*	ENST00000522655.1	37	c.1861	CCDS6342.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	44|44	11.242366|11.242366	0.99536|0.99536	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.046841|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71542	.|0.3352	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73802	.|-0.3868	.|3	0.02654|.	T|.	1|.	-28.4528|-28.4528	15.7778|15.7778	0.78236|0.78236	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|S	621|305	.|.	ENSP00000297857:K621X|.	K|R	-|-	1|3	0|2	ZHX1|ZHX1	124335507|124335507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.240000|7.240000	0.78192|0.78192	2.313000|2.313000	0.78055|0.78055	0.454000|0.454000	0.30748|0.30748	AAA|AGA	ZHX1	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.373	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	T			124266326	-1	no_errors	ENST00000297857	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZHX1	11244	genome.wustl.edu	37	8	124266335	124266335	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:124266335C>G	ENST00000522655.1	-	3	2392	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.E618Q|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.E618Q			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	618					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCTTCTTCTCTGTAAACCAA	0.373																																																	0													116.0	121.0	119.0					8																	124266335		2203	4300	6503	SO:0001583	missense	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1852G>C	8.37:g.124266335C>G	ENSP00000428821:p.Glu618Gln		Q8IWD8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E618Q	ENST00000522655.1	37	c.1852	CCDS6342.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.330627|4.330627	0.81690|0.81690	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	D;D;D|.	0.96104|.	-3.91;-3.91;-3.91|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.122628|.	0.64402|.	D|.	0.000012|.	T|T	0.75554|0.75554	0.3865|0.3865	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.72649|0.72649	-0.4229|-0.4229	9|4	0.72032|.	D|.	0.01|.	-17.7966|-17.7966	19.5944|19.5944	0.95530|0.95530	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	618|.	Q9UKY1|.	ZHX1_HUMAN|.	Q|H	618|302	ENSP00000297857:E618Q;ENSP00000378938:E618Q;ENSP00000428821:E618Q|.	ENSP00000297857:E618Q|.	E|Q	-|-	1|3	0|2	ZHX1|ZHX1	124335516|124335516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.043000|7.043000	0.76572|0.76572	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GAG|CAG	ZHX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.373	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	C			124266335	-1	no_errors	ENST00000297857	ensembl	human	known	70_37	missense	SNP	1.000	G
ZKSCAN4	387032	genome.wustl.edu	37	6	28213016	28213016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr6:28213016G>A	ENST00000377294.2	-	5	1759	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*	ZKSCAN4_ENST00000423974.2_Nonsense_Mutation_p.Q351*	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	506					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)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGGATTTTCTGATGTTCAATA	0.423																																																	0													120.0	116.0	117.0					6																	28213016		2203	4300	6503	SO:0001587	stop_gained	387032			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1516C>T	6.37:g.28213016G>A	ENSP00000366509:p.Gln506*		B2RE32|Q5U7L4	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q506*	ENST00000377294.2	37	c.1516	CCDS4647.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.128588	0.94473	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	.	.	.	5.58	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	14.6381	0.68704	0.0:0.0:0.8485:0.1515	.	.	.	.	X	506;351	.	ENSP00000366509:Q506X	Q	-	1	0	ZKSCAN4	28320995	0.025000	0.19082	0.657000	0.29651	0.990000	0.78478	1.954000	0.40362	1.421000	0.47157	0.655000	0.94253	CAG	ZKSCAN4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN4	HGNC	protein_coding	OTTHUMT00000040179.1	G	NM_019110		28213016	-1	no_errors	ENST00000377294	ensembl	human	known	70_37	nonsense	SNP	0.922	A
ZMYND10	51364	genome.wustl.edu	37	3	50382636	50382636	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr3:50382636C>T	ENST00000231749.3	-	2	1392	c.120G>A	c.(118-120)gaG>gaA	p.E40E	ZMYND10_ENST00000490675.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|ZMYND10_ENST00000360165.3_Silent_p.E40E|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	40					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGTTCAGCTTCTCCAGGTTCT	0.597										TSP Lung(30;0.18)																																							0													144.0	116.0	126.0					3																	50382636		2203	4300	6503	SO:0001819	synonymous_variant	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.120G>A	3.37:g.50382636C>T			A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.E40	ENST00000231749.3	37	c.120	CCDS2825.1	3																																																																																			ZMYND10	-	pirsf_UCP037948_Znf-MYND		0.597	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	C	NM_015896		50382636	-1	no_errors	ENST00000231749	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF234	10780	genome.wustl.edu	37	19	44660768	44660768	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:44660768G>C	ENST00000426739.2	+	6	857	c.599G>C	c.(598-600)gGa>gCa	p.G200A	ZNF234_ENST00000592437.1_Missense_Mutation_p.G200A	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	200					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GTCCACATGGGAGAGAAATGC	0.413																																																	0													146.0	148.0	147.0					19																	44660768		2203	4300	6503	SO:0001583	missense	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.599G>C	19.37:g.44660768G>C	ENSP00000400878:p.Gly200Ala		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	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.G200A	ENST00000426739.2	37	c.599	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348213	0.61183	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.26373	1.74	4.19	3.16	0.36331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41880	0.1178	M	0.64260	1.97	0.33071	D	0.535401	D	0.62365	0.991	P	0.59703	0.862	T	0.55817	-0.8081	9	0.87932	D	0	.	11.6304	0.51171	0.0955:0.0:0.9045:0.0	.	200	Q14588	ZN234_HUMAN	A	200;29	ENSP00000400878:G200A	ENSP00000400878:G200A	G	+	2	0	ZNF226	49352608	1.000000	0.71417	0.821000	0.32701	0.901000	0.52897	3.598000	0.54038	2.330000	0.79161	0.586000	0.80456	GGA	ZNF234	-	pfscan_Znf_C2H2		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	G			44660768	+1	no_errors	ENST00000426739	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF251	90987	genome.wustl.edu	37	8	145948193	145948193	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:145948193C>G	ENST00000292562.7	-	5	1127	c.852G>C	c.(850-852)cgG>cgC	p.R284R	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	284					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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGTGAATTCTCCGATGAAGAC	0.428																																																	0													63.0	69.0	67.0					8																	145948193		2101	4259	6360	SO:0001819	synonymous_variant	90987			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.852G>C	8.37:g.145948193C>G			Q2M219	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.R284	ENST00000292562.7	37	c.852	CCDS47944.1	8																																																																																			ZNF251	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	C	NM_138367		145948193	-1	no_errors	ENST00000292562	ensembl	human	known	70_37	silent	SNP	0.995	G
ZNF252P	286101	genome.wustl.edu	37	8	146228392	146228392	+	RNA	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:146228392C>T	ENST00000426361.2	-	0	0				ZNF252P-AS1_ENST00000527067.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						CAGTCCTGCTCCTTCCCGGTT	0.642																																																	0																																												286103			BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146228392C>T				RNA	SNP	-	NULL	ENST00000426361.2	37	NULL		8	.	.	.	.	.	.	.	.	.	.	c	5.572	0.290296	0.10567	.	.	ENSG00000255559	ENST00000527067	.	.	.	1.22	1.22	0.21188	.	.	.	.	.	T	0.62368	0.2422	.	.	.	.	.	.	D	0.58970	0.984	D	0.63877	0.919	T	0.65977	-0.6037	5	.	.	.	.	6.1996	0.20569	0.0:1.0:0.0:0.0	.	7	Q0IIN9	CH077_HUMAN	F	7	.	.	S	+	2	0	C8orf77	146199196	0.023000	0.18921	0.004000	0.12327	0.004000	0.04260	0.729000	0.26028	0.536000	0.28733	0.313000	0.20887	TCC	ZNF252P-AS1	-	-		0.642	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	ZNF252P-AS1	HGNC	pseudogene	OTTHUMT00000451422.1	C	NR_023392		146228392	+1	no_errors	ENST00000527067	ensembl	human	known	70_37	rna	SNP	0.002	T
ZNF275	10838	genome.wustl.edu	37	X	152612885	152612885	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:152612885G>A	ENST00000421401.3	+	4	919	c.742G>A	c.(742-744)Gat>Aat	p.D248N	ZNF275_ENST00000370249.2_Missense_Mutation_p.D195N|ZNF275_ENST00000440091.1_Missense_Mutation_p.D278N|ZNF275_ENST00000370251.3_Missense_Mutation_p.D248N			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGATTTCCTGGATCGCCAGGA	0.602																																																	0													54.0	56.0	55.0					X																	152612885		2183	4273	6456	SO:0001583	missense	10838			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.742G>A	X.37:g.152612885G>A	ENSP00000398977:p.Asp248Asn		A6NE92	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.D278N	ENST00000421401.3	37	c.832		X	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227923	0.39399	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.27720	2.47;2.47;1.65;2.47	4.38	4.38	0.52667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.172100	0.27861	N	0.017551	T	0.17023	0.0409	N	0.11892	0.195	0.20764	N	0.999853	B;B	0.34214	0.271;0.442	B;B	0.33568	0.093;0.166	T	0.13335	-1.0513	10	0.44086	T	0.13	-20.3305	9.5405	0.39248	0.0:0.2097:0.7903:0.0	.	248;248	Q9NSD4;A6NFS0	ZN275_HUMAN;.	N	248;248;278;195	ENSP00000359271:D248N;ENSP00000398977:D248N;ENSP00000411097:D278N;ENSP00000359269:D195N	ENSP00000359269:D195N	D	+	1	0	ZNF275	152266079	0.000000	0.05858	0.973000	0.42090	0.662000	0.39071	-1.569000	0.02142	2.157000	0.67596	0.513000	0.50165	GAT	ZNF275	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	HGNC	protein_coding		G	NM_001080485		152612885	+1	no_errors	ENST00000440091	ensembl	human	known	70_37	missense	SNP	0.385	A
ZNF275	10838	genome.wustl.edu	37	X	152612967	152612967	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chrX:152612967G>A	ENST00000421401.3	+	4	1001	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	ZNF275_ENST00000370249.2_Missense_Mutation_p.R222Q|ZNF275_ENST00000440091.1_Missense_Mutation_p.R305Q|ZNF275_ENST00000370251.3_Missense_Mutation_p.R275Q			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGTCCTTCCGAGGGGTCAAC	0.647																																																	0													23.0	26.0	25.0					X																	152612967		2192	4284	6476	SO:0001583	missense	10838			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.824G>A	X.37:g.152612967G>A	ENSP00000398977:p.Arg275Gln		A6NE92	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.R305Q	ENST00000421401.3	37	c.914		X	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477923	0.63849	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.15718	4.68;2.4;2.4;2.4	4.62	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.393730	0.18762	N	0.131850	T	0.15609	0.0376	L	0.53617	1.68	0.22896	N	0.998593	B;B	0.25743	0.076;0.133	B;B	0.22601	0.027;0.04	T	0.20538	-1.0272	10	0.66056	D	0.02	-6.5253	5.7568	0.18178	0.109:0.1931:0.6979:0.0	.	275;275	Q9NSD4;A6NFS0	ZN275_HUMAN;.	Q	275;275;305;222	ENSP00000359271:R275Q;ENSP00000398977:R275Q;ENSP00000411097:R305Q;ENSP00000359269:R222Q	ENSP00000359269:R222Q	R	+	2	0	ZNF275	152266161	0.003000	0.15002	0.665000	0.29768	0.986000	0.74619	1.057000	0.30492	1.068000	0.40764	0.513000	0.50165	CGA	ZNF275	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	HGNC	protein_coding		G	NM_001080485		152612967	+1	no_errors	ENST00000440091	ensembl	human	known	70_37	missense	SNP	0.384	A
ZNF335	63925	genome.wustl.edu	37	20	44582415	44582415	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:44582415G>A	ENST00000322927.2	-	18	2715	c.2615C>T	c.(2614-2616)gCa>gTa	p.A872V	ZNF335_ENST00000426788.1_Missense_Mutation_p.A717V	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	872					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGGACCAGGTGCCAGGGTGAT	0.632																																																	0													95.0	80.0	85.0					20																	44582415		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2615C>T	20.37:g.44582415G>A	ENSP00000325326:p.Ala872Val		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A872V	ENST00000322927.2	37	c.2615	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040095	0.55003	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09538	3.1;2.97	4.97	4.97	0.65823	.	0.129362	0.35407	N	0.003233	T	0.08582	0.0213	N	0.19112	0.55	0.25077	N	0.99096	B;B	0.34290	0.447;0.319	B;B	0.34931	0.192;0.115	T	0.24941	-1.0146	10	0.48119	T	0.1	-6.0589	13.6078	0.62058	0.0:0.0:1.0:0.0	.	717;872	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	V	872;649;717	ENSP00000325326:A872V;ENSP00000397098:A717V	ENSP00000243961:A649V	A	-	2	0	ZNF335	44015822	1.000000	0.71417	0.941000	0.38009	0.630000	0.37929	4.213000	0.58520	2.587000	0.87381	0.655000	0.94253	GCA	ZNF335	-	NULL		0.632	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	G	NM_022095		44582415	-1	no_errors	ENST00000322927	ensembl	human	known	70_37	missense	SNP	0.967	A
ZNF34	80778	genome.wustl.edu	37	8	145998765	145998765	+	Silent	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:145998765C>T	ENST00000343459.4	-	6	1634	c.1569G>A	c.(1567-1569)agG>agA	p.R523R	ZNF34_ENST00000429371.2_Silent_p.R502R			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CGGTGTGGATCCTCCGGTGCT	0.577																																																	0													132.0	128.0	129.0					8																	145998765		2203	4300	6503	SO:0001819	synonymous_variant	80778			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1569G>A	8.37:g.145998765C>T			D3DWN1|Q9BSZ0	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.R523	ENST00000343459.4	37	c.1569	CCDS47945.1	8																																																																																			ZNF34	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.577	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1	C	NM_030580		145998765	-1	no_errors	ENST00000343459	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF354C	30832	genome.wustl.edu	37	5	178505884	178505884	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr5:178505884G>A	ENST00000315475.6	+	5	757	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	151					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)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AGATTCGCATGAGAAAACCAT	0.388																																																	0													93.0	98.0	97.0					5																	178505884		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.451G>A	5.37:g.178505884G>A	ENSP00000324064:p.Glu151Lys		Q6P4P9|Q8NFX1	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.E151K	ENST00000315475.6	37	c.451	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	G	0.379	-0.929811	0.02359	.	.	ENSG00000177932	ENST00000315475	T	0.04758	3.56	3.74	-0.554	0.11811	.	.	.	.	.	T	0.01592	0.0051	N	0.02379	-0.575	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48917	-0.8992	9	0.10111	T	0.7	-1.6497	3.9164	0.09225	0.3092:0.4052:0.2856:0.0	.	151	Q86Y25	Z354C_HUMAN	K	151	ENSP00000324064:E151K	ENSP00000324064:E151K	E	+	1	0	ZNF354C	178438490	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.141000	0.10327	0.123000	0.18342	0.591000	0.81541	GAG	ZNF354C	-	NULL		0.388	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	G			178505884	+1	no_errors	ENST00000315475	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF358	140467	genome.wustl.edu	37	19	7584332	7584332	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:7584332G>A	ENST00000597229.1	+	2	374	c.204G>A	c.(202-204)tcG>tcA	p.S68S	CTD-2207O23.12_ENST00000599312.1_3'UTR|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Silent_p.S68S	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	68					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AGCCCGTCTCGGAGGATCTGG	0.602																																																	0													53.0	59.0	57.0					19																	7584332		2203	4300	6503	SO:0001819	synonymous_variant	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.204G>A	19.37:g.7584332G>A			Q9BTM7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S68	ENST00000597229.1	37	c.204	CCDS32890.2	19																																																																																			ZNF358	-	NULL		0.602	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	G			7584332	+1	no_errors	ENST00000394341	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF415	55786	genome.wustl.edu	37	19	53612192	53612192	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:53612192G>C	ENST00000500065.4	-	4	1439	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	ZNF415_ENST00000455735.2_Nonsense_Mutation_p.S417*|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.S417*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.S356*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.S139*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.S369*|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.S381*	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGCAAGGCTTGAAGTCTGACT	0.428																																																	0													74.0	68.0	70.0					19																	53612192		2203	4300	6503	SO:0001587	stop_gained	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1106C>G	19.37:g.53612192G>C	ENSP00000439435:p.Ser369*		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.S417*	ENST00000500065.4	37	c.1250	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657701	0.67586	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.67	-1.27	0.09347	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.4337	0.27143	0.1079:0.4849:0.4072:0.0	.	.	.	.	X	369;369;417;381;417;356	.	ENSP00000243643:S369X	S	-	2	0	ZNF415	58304004	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.735000	0.00802	-0.290000	0.09025	-0.494000	0.04653	TCA	ZNF415	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	G	NM_018355		53612192	-1	no_errors	ENST00000448501	ensembl	human	known	70_37	nonsense	SNP	0.000	C
ZNF419	79744	genome.wustl.edu	37	19	58004813	58004813	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:58004813C>G	ENST00000221735.7	+	5	1074	c.888C>G	c.(886-888)ttC>ttG	p.F296L	ZNF419_ENST00000426954.2_Missense_Mutation_p.F284L|ZNF419_ENST00000442920.2_Missense_Mutation_p.F283L|ZNF419_ENST00000415379.2_Missense_Mutation_p.F250L|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000424930.2_Missense_Mutation_p.F297L|ZNF419_ENST00000347466.6_Missense_Mutation_p.F264L|ZNF419_ENST00000354197.4_Missense_Mutation_p.F284L			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	296					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(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GAAAAGCTTTCAGGCATAATT	0.423																																																	0													97.0	95.0	96.0					19																	58004813		2203	4300	6503	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.888C>G	19.37:g.58004813C>G	ENSP00000221735:p.Phe296Leu		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	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.F297L	ENST00000221735.7	37	c.891	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356609	0.41801	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	2.43	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61527	0.2354	M	0.84948	2.725	0.09310	N	0.999999	D;D;D;D;D;D;D	0.89917	1.0;0.989;0.996;0.989;1.0;0.97;1.0	D;D;D;D;D;P;D	0.72625	0.973;0.968;0.978;0.968;0.973;0.487;0.973	T	0.52801	-0.8527	9	0.87932	D	0	.	7.4043	0.26981	0.0:0.5413:0.0:0.4587	.	250;250;283;284;297;264;296	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	L	271;297;284;284;283;297;264;250;296	ENSP00000388864:F297L;ENSP00000390916:F284L;ENSP00000346136:F284L;ENSP00000414709:F283L;ENSP00000299860:F264L;ENSP00000392129:F250L;ENSP00000221735:F296L	ENSP00000221735:F296L	F	+	3	2	ZNF419	62696625	0.000000	0.05858	0.002000	0.10522	0.918000	0.54935	-0.716000	0.04991	-0.412000	0.07519	0.205000	0.17691	TTC	ZNF419	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	C	NM_024691		58004813	+1	no_errors	ENST00000424930	ensembl	human	known	70_37	missense	SNP	0.042	G
ZNF467	168544	genome.wustl.edu	37	7	149466212	149466212	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:149466212C>G	ENST00000302017.3	-	4	642	c.229G>C	c.(229-231)Gca>Cca	p.A77P	ZNF467_ENST00000484747.1_Missense_Mutation_p.A77P	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	77					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)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTTCTGTGCTGAGCACGCC	0.637																																																	0													47.0	35.0	39.0					7																	149466212		2198	4284	6482	SO:0001583	missense	168544			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.229G>C	7.37:g.149466212C>G	ENSP00000304769:p.Ala77Pro			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A77P	ENST00000302017.3	37	c.229	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	C	0.106	-1.144668	0.01714	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	T	0.06768	3.26	3.92	2.06	0.26882	.	.	.	.	.	T	0.03520	0.0101	N	0.02539	-0.55	0.25571	N	0.986894	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.44605	-0.9317	9	0.29301	T	0.29	-0.9816	9.9852	0.41837	0.0:0.4305:0.5695:0.0	.	77;77	Q7Z7K2;C9JAX3	ZN467_HUMAN;.	P	77	ENSP00000304769:A77P	ENSP00000304769:A77P	A	-	1	0	ZNF467	149097145	0.009000	0.17119	0.802000	0.32245	0.563000	0.35712	0.987000	0.29603	0.317000	0.23160	-0.519000	0.04390	GCA	ZNF467	-	NULL		0.637	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	C	NM_207336		149466212	-1	no_errors	ENST00000302017	ensembl	human	known	70_37	missense	SNP	0.862	G
ZNF480	147657	genome.wustl.edu	37	19	52819093	52819093	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:52819093C>G	ENST00000595962.1	+	4	272	c.206C>G	c.(205-207)tCt>tGt	p.S69C	ZNF480_ENST00000335090.6_5'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Intron|ZNF480_ENST00000490272.1_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACAGGAATCTCTCTTCCTGAC	0.408																																																	0													54.0	54.0	54.0					19																	52819093		2203	4300	6503	SO:0001583	missense	147657			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.206C>G	19.37:g.52819093C>G	ENSP00000471754:p.Ser69Cys		Q5JPG9|Q6P0Q4|Q8N1M5	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.S69C	ENST00000595962.1	37	c.206	CCDS12850.2	19	.	.	.	.	.	.	.	.	.	.	C	0.193	-1.051189	0.01981	.	.	ENSG00000198464	ENST00000354515;ENST00000468240	T	0.00816	5.66	1.88	0.78	0.18556	Krueppel-associated box (3);	.	.	.	.	T	0.00580	0.0019	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46428	-0.9192	9	0.18710	T	0.47	.	4.4087	0.11421	0.0:0.7843:0.0:0.2157	.	69	Q8WV37	ZN480_HUMAN	C	91;69	ENSP00000417424:S69C	ENSP00000346510:S91C	S	+	2	0	ZNF480	57510905	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.539000	0.23175	0.132000	0.18615	-0.289000	0.09944	TCT	ZNF480	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.408	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	C	NM_144684		52819093	+1	no_errors	ENST00000468240	ensembl	human	known	70_37	missense	SNP	0.001	G
ZNF488	118738	genome.wustl.edu	37	10	48370600	48370600	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr10:48370600G>C	ENST00000395702.2	+	2	295	c.68G>C	c.(67-69)gGa>gCa	p.G23A	ZNF488_ENST00000494156.1_Missense_Mutation_p.G23A|ZNF488_ENST00000586537.1_5'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	23					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCTGGGAAGGGAGCCCCGTTG	0.617																																																	0													54.0	61.0	59.0					10																	48370600		2202	4300	6502	SO:0001583	missense	118738			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.68G>C	10.37:g.48370600G>C	ENSP00000379054:p.Gly23Ala		Q05CE0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G23A	ENST00000395702.2	37	c.68	CCDS7217.1	10	.	.	.	.	.	.	.	.	.	.	G	9.078	0.998651	0.19121	.	.	ENSG00000165388	ENST00000395702;ENST00000433077;ENST00000442001;ENST00000436850;ENST00000412534;ENST00000444585;ENST00000425196	T;T;T;T;T;T	0.72167	1.95;0.78;0.51;-0.63;1.41;1.4	4.6	-4.31	0.03698	.	1.451280	0.04855	U	0.443071	T	0.58104	0.2099	L	0.54323	1.7	0.09310	N	0.999997	B	0.09022	0.002	B	0.09377	0.004	T	0.28713	-1.0035	10	0.25751	T	0.34	.	2.6059	0.04878	0.5505:0.1392:0.1699:0.1403	.	23	Q96MN9	ZN488_HUMAN	A	23	ENSP00000379054:G23A;ENSP00000401469:G23A;ENSP00000415923:G23A;ENSP00000406508:G23A;ENSP00000410326:G23A;ENSP00000412898:G23A	ENSP00000379054:G23A	G	+	2	0	ZNF488	47990606	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.118000	0.10692	-0.747000	0.04759	-0.224000	0.12420	GGA	ZNF488	-	NULL		0.617	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF488	HGNC	protein_coding	OTTHUMT00000314632.1	G	NM_153034		48370600	+1	no_errors	ENST00000395702	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF512	84450	genome.wustl.edu	37	2	27830880	27830880	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:27830880C>G	ENST00000355467.4	+	10	1188	c.1105C>G	c.(1105-1107)Cag>Gag	p.Q369E	ZNF512_ENST00000416005.2_Missense_Mutation_p.Q340E|ZNF512_ENST00000379717.1_Missense_Mutation_p.Q368E|ZNF512_ENST00000556601.1_Missense_Mutation_p.Q238E|ZNF512_ENST00000413371.2_Missense_Mutation_p.Q292E|RP11-158I13.2_ENST00000505973.1_RNA	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	369					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(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAAGGTGCTTCAGGACCTGGT	0.488																																																	0													74.0	65.0	68.0					2																	27830880		2203	4300	6503	SO:0001583	missense	84450			AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1105C>G	2.37:g.27830880C>G	ENSP00000347648:p.Gln369Glu		B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q369E	ENST00000355467.4	37	c.1105	CCDS1758.1	2	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914706	0.52546	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.98	5.98	0.97165	.	0.269338	0.39083	N	0.001462	T	0.44244	0.1284	L	0.28274	0.84	0.36091	D	0.843441	P;P;P	0.47762	0.779;0.779;0.9	B;B;P	0.46718	0.262;0.428;0.525	T	0.38628	-0.9652	9	0.05959	T	0.93	-14.2534	17.2403	0.87011	0.0:1.0:0.0:0.0	.	264;340;369	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	E	368;369;238;340;292	.	ENSP00000347648:Q369E	Q	+	1	0	ZNF512	27684384	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.279000	0.51670	2.861000	0.98227	0.650000	0.86243	CAG	ZNF512	-	NULL		0.488	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF512	HGNC	protein_coding	OTTHUMT00000215029.2	C	NM_032434		27830880	+1	no_errors	ENST00000355467	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF517	340385	genome.wustl.edu	37	8	146032959	146032959	+	Silent	SNP	C	C	T	rs376336312		TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr8:146032959C>T	ENST00000531720.1	+	4	703	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Silent_p.L220L			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	220					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(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AAGCTCCATCCTGCTGCGGCA	0.632																																																	0								C		1,4401		0,1,2200	39.0	34.0	36.0		658	2.7	1.0	8		36	0,8600		0,0,4300	no	coding-synonymous	ZNF517	NM_213605.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		220/493	146032959	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	340385			AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.658C>T	8.37:g.146032959C>T				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.L220	ENST00000531720.1	37	c.658	CCDS6434.1	8																																																																																			ZNF517	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.632	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF517	HGNC	protein_coding	OTTHUMT00000382642.1	C	XM_291261		146032959	+1	no_errors	ENST00000359971	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF527	84503	genome.wustl.edu	37	19	37865089	37865089	+	5'UTR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:37865089G>A	ENST00000436120.2	+	0	96				ZNF527_ENST00000483919.1_5'UTR|ZNF527_ENST00000587349.1_5'UTR|ZNF527_ENST00000589615.1_3'UTR	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAAAACTGAAGAAGGAGG	0.423																																																	0													109.0	101.0	103.0					19																	37865089		1857	4104	5961	SO:0001623	5_prime_UTR_variant	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.-12G>A	19.37:g.37865089G>A			B4DVL5	RNA	SNP	-	NULL	ENST00000436120.2	37	NULL	CCDS42559.1	19																																																																																			ZNF527	-	-		0.423	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	G	NM_032453		37865089	+1	no_errors	ENST00000589615	ensembl	human	known	70_37	rna	SNP	0.919	A
ZNF563	147837	genome.wustl.edu	37	19	12432090	12432090	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:12432090G>A	ENST00000293725.5	-	3	392	c.187C>T	c.(187-189)Cta>Tta	p.L63L	ZNF563_ENST00000595977.1_Silent_p.L63L	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATTACCTTAGATTTCTCCTA	0.318																																					GBM(39;623 795 5132 29510 31476)												0													71.0	64.0	66.0					19																	12432090		2200	4298	6498	SO:0001819	synonymous_variant	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.187C>T	19.37:g.12432090G>A			B2R9E7|Q8NAT7	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.L63	ENST00000293725.5	37	c.187	CCDS12270.1	19																																																																																			ZNF563	-	pfscan_Krueppel-associated_box		0.318	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	G	NM_145276		12432090	-1	no_errors	ENST00000293725	ensembl	human	known	70_37	silent	SNP	0.558	A
ZNF527	84503	genome.wustl.edu	37	19	37865092	37865092	+	5'UTR	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:37865092G>A	ENST00000436120.2	+	0	99				ZNF527_ENST00000483919.1_5'UTR|ZNF527_ENST00000587349.1_5'UTR|ZNF527_ENST00000589615.1_3'UTR	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAAACTGAAGAAGGAGGAAT	0.438																																																	0													112.0	103.0	106.0					19																	37865092		1858	4105	5963	SO:0001623	5_prime_UTR_variant	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.-9G>A	19.37:g.37865092G>A			B4DVL5	RNA	SNP	-	NULL	ENST00000436120.2	37	NULL	CCDS42559.1	19																																																																																			ZNF527	-	-		0.438	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	G	NM_032453		37865092	+1	no_errors	ENST00000589615	ensembl	human	known	70_37	rna	SNP	0.805	A
ZNF574	64763	genome.wustl.edu	37	19	42584616	42584616	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:42584616C>T	ENST00000600245.1	+	2	2513	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	ZNF574_ENST00000359044.4_Missense_Mutation_p.R620W|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R710W			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CTTGCTGCGTCGGCTGCTGGA	0.662																																																	0													62.0	58.0	59.0					19																	42584616		2203	4300	6503	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1858C>T	19.37:g.42584616C>T	ENSP00000469029:p.Arg620Trp		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R710W	ENST00000600245.1	37	c.2128	CCDS12596.1	19	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550397	0.45383	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.15487	2.42;2.42	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144113	0.41938	D	0.000792	T	0.14527	0.0351	L	0.41027	1.25	0.41841	D	0.990127	B;B	0.32203	0.024;0.36	B;B	0.24006	0.005;0.05	T	0.02805	-1.1108	10	0.59425	D	0.04	-20.2404	13.0162	0.58759	0.1615:0.8384:0.0:0.0	.	620;709	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	W	710;620;227	ENSP00000222339:R710W;ENSP00000351939:R620W	ENSP00000222339:R710W	R	+	1	2	ZNF574	47276456	0.000000	0.05858	1.000000	0.80357	0.338000	0.28826	-0.225000	0.09151	2.534000	0.85438	0.650000	0.86243	CGG	ZNF574	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	HGNC	protein_coding	OTTHUMT00000463458.1	C	NM_022752		42584616	+1	no_errors	ENST00000222339	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF618	114991	genome.wustl.edu	37	9	116812073	116812073	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:116812073G>A	ENST00000374126.5	+	15	2590	c.2491G>A	c.(2491-2493)Gag>Aag	p.E831K	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.E738K			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	831					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						CAAGGTCTGTGAGCTCATCAA	0.657																																																	0													59.0	66.0	64.0					9																	116812073		2068	4190	6258	SO:0001583	missense	114991			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.2491G>A	9.37:g.116812073G>A	ENSP00000363241:p.Glu831Lys		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E831K	ENST00000374126.5	37	c.2491		9	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999033	0.74818	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.23552	1.9;1.9	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.048718	0.85682	D	0.000000	T	0.52597	0.1744	.	.	.	0.80722	D	1	D;D;D	0.65815	0.982;0.988;0.995	D;P;P	0.67548	0.952;0.76;0.879	T	0.50508	-0.8820	9	0.56958	D	0.05	-34.544	19.0349	0.92972	0.0:0.0:1.0:0.0	.	798;831;738	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	K	831;738	ENSP00000363241:E831K;ENSP00000288466:E738K	ENSP00000288466:E738K	E	+	1	0	ZNF618	115851894	1.000000	0.71417	0.972000	0.41901	0.566000	0.35808	9.100000	0.94213	2.815000	0.96918	0.561000	0.74099	GAG	ZNF618	-	superfamily_RNaseH-like_dom		0.657	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	G	XM_054983		116812073	+1	no_errors	ENST00000374126	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF638	27332	genome.wustl.edu	37	2	71576778	71576778	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:71576778G>C	ENST00000409544.1	+	2	1324	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	ZNF638_ENST00000377802.2_Missense_Mutation_p.E232Q|ZNF638_ENST00000355812.3_Missense_Mutation_p.E232Q|ZNF638_ENST00000264447.4_Missense_Mutation_p.E232Q|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	232					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TTATGATCCTGAAATTCCAAC	0.383																																																	0													113.0	113.0	113.0					2																	71576778		2203	4300	6503	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.694G>C	2.37:g.71576778G>C	ENSP00000386433:p.Glu232Gln		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.E232Q	ENST00000409544.1	37	c.694	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	15.55	2.868245	0.51588	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.78595	-0.6;-1.19;-0.05;-0.6;0.94;0.94	5.84	4.97	0.65823	.	0.255160	0.38217	N	0.001764	T	0.79947	0.4534	N	0.24115	0.695	0.33381	D	0.574856	D;D;D;D;D	0.71674	0.996;0.996;0.998;0.997;0.996	D;D;D;D;D	0.80764	0.986;0.986;0.994;0.986;0.986	D	0.85624	0.1266	10	0.87932	D	0	-21.6202	12.5451	0.56195	0.0:0.0:0.8335:0.1665	.	338;232;232;232;232	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	Q	232;338;232;232;232;232	ENSP00000386669:E232Q;ENSP00000438189:E338Q;ENSP00000348066:E232Q;ENSP00000367033:E232Q;ENSP00000264447:E232Q;ENSP00000386433:E232Q	ENSP00000264447:E232Q	E	+	1	0	ZNF638	71430286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.301000	0.59086	1.482000	0.48325	-0.127000	0.14921	GAA	ZNF638	-	NULL		0.383	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	G	NM_014497		71576778	+1	no_errors	ENST00000264447	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF638	27332	genome.wustl.edu	37	2	71620688	71620688	+	Intron	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr2:71620688G>A	ENST00000409544.1	+	11	3007				ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Intron|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638						regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ggatgctgaagaagacaactt	0.493																																																	0																																										SO:0001627	intron_variant	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2378-2583G>A	2.37:g.71620688G>A			B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K987	ENST00000409544.1	37	c.2961	CCDS1917.1	2																																																																																			ZNF638	-	NULL		0.493	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	G	NM_014497		71620688	+1	no_errors	ENST00000544512	ensembl	human	known	70_37	silent	SNP	0.760	A
ZNF664	144348	genome.wustl.edu	37	12	124497247	124497247	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr12:124497247C>A	ENST00000539644.1	+	6	2386	c.556C>A	c.(556-558)Ctc>Atc	p.L186I	ZNF664_ENST00000337815.4_Missense_Mutation_p.L186I|ZNF664_ENST00000392404.3_Missense_Mutation_p.L186I|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.L186I			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	186					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)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GAGTTCGAGCCTCTGCATCCA	0.522																																																	0													107.0	104.0	105.0					12																	124497247		2203	4300	6503	SO:0001583	missense	144348				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.556C>A	12.37:g.124497247C>A	ENSP00000441405:p.Leu186Ile		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L186I	ENST00000539644.1	37	c.556	CCDS9257.1	12	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963598	0.74016	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35903	N	0.002915	T	0.38904	0.1058	M	0.88979	2.995	0.35737	D	0.818389	D	0.89917	1.0	D	0.83275	0.996	T	0.56974	-0.7890	10	0.72032	D	0.01	-32.7578	14.9673	0.71204	0.0:1.0:0.0:0.0	.	186	Q8N3J9	ZN664_HUMAN	I	186;186;186;186;124	ENSP00000441405:L186I;ENSP00000376205:L186I;ENSP00000440645:L186I;ENSP00000337320:L186I	ENSP00000337320:L186I	L	+	1	0	ZNF664	123063200	0.996000	0.38824	1.000000	0.80357	0.982000	0.71751	3.548000	0.53670	2.651000	0.90000	0.655000	0.94253	CTC	ZNF664	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.522	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF664	HGNC	protein_coding	OTTHUMT00000400365.1	C	NM_152437		124497247	+1	no_errors	ENST00000337815	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF709	163051	genome.wustl.edu	37	19	12606284	12606284	+	Intron	SNP	G	G	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:12606284G>C	ENST00000428311.1	-	2	145				ZNF709_ENST00000493776.1_5'UTR			Q8N972	ZN709_HUMAN	zinc finger protein 709						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						TCGCTAGGTGGCTCTGCCGCA	0.667																																					GBM(33;565 669 12371 29134 51667)												0																																										SO:0001627	intron_variant	163051			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000428311.1:c.4-28620C>G	19.37:g.12606284G>C			A8K4E6	RNA	SNP	-	NULL	ENST00000428311.1	37	NULL		19																																																																																			ZNF709	-	-		0.667	ZNF709-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	ZNF709	HGNC	protein_coding	OTTHUMT00000368112.1	G	NM_152601		12606284	-1	no_errors	ENST00000493776	ensembl	human	known	70_37	rna	SNP	0.000	C
ZNF676	163223	genome.wustl.edu	37	19	22364025	22364025	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:22364025C>G	ENST00000397121.2	-	3	811	c.494G>C	c.(493-495)aGa>aCa	p.R165T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGAATTCTCTCTAGTATAAAT	0.338																																																	0													63.0	63.0	63.0					19																	22364025		1976	4192	6168	SO:0001583	missense	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.494G>C	19.37:g.22364025C>G	ENSP00000380310:p.Arg165Thr		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R165T	ENST00000397121.2	37	c.494	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	6.179	0.401120	0.11696	.	.	ENSG00000196109	ENST00000397121	T	0.15256	2.44	1.03	-0.771	0.11002	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13157	0.0319	L	0.33668	1.02	0.23716	N	0.997038	B	0.13594	0.008	B	0.28553	0.091	T	0.36138	-0.9760	9	0.62326	D	0.03	.	6.2097	0.20621	0.0:0.7927:0.0:0.2073	.	165	Q8N7Q3	ZN676_HUMAN	T	165	ENSP00000380310:R165T	ENSP00000380310:R165T	R	-	2	0	ZNF676	22155865	0.973000	0.33851	0.002000	0.10522	0.051000	0.14879	3.467000	0.53078	-0.374000	0.07967	0.195000	0.17529	AGA	ZNF676	-	NULL		0.338	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	C	NM_001001411		22364025	-1	no_errors	ENST00000397121	ensembl	human	known	70_37	missense	SNP	0.936	G
ZNF729	100287226	genome.wustl.edu	37	19	22497341	22497341	+	Missense_Mutation	SNP	A	A	C			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:22497341A>C	ENST00000601693.1	+	4	1240	c.1122A>C	c.(1120-1122)aaA>aaC	p.K374N	ZNF729_ENST00000357491.6_Missense_Mutation_p.K374N			A6NN14	ZN729_HUMAN	zinc finger protein 729	374					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(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						CTGGAGAGAAACCCTACAAAT	0.383																																																	0																																										SO:0001583	missense	100287226				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.1122A>C	19.37:g.22497341A>C	ENSP00000469582:p.Lys374Asn		M0QY45	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.K374N	ENST00000601693.1	37	c.1122	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	11.53	1.666336	0.29604	.	.	ENSG00000196350	ENST00000357491	T	0.26067	1.76	0.592	0.592	0.17471	.	.	.	.	.	T	0.37571	0.1008	M	0.83118	2.625	.	.	.	.	.	.	.	.	.	T	0.48043	-0.9069	6	0.66056	D	0.02	.	3.9673	0.09437	0.7501:0.0:0.2499:0.0	.	.	.	.	N	374	ENSP00000350085:K374N	ENSP00000350085:K374N	K	+	3	2	ZNF729	22289181	0.001000	0.12720	0.341000	0.25589	0.089000	0.18198	-0.265000	0.08644	0.533000	0.28675	0.386000	0.25728	AAA	ZNF729	-	pfscan_Znf_C2H2		0.383	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	A	XM_496301		22497341	+1	no_errors	ENST00000601693	ensembl	human	novel	70_37	missense	SNP	0.546	C
ZNF749	388567	genome.wustl.edu	37	19	57956145	57956145	+	Silent	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:57956145C>G	ENST00000334181.4	+	3	1879	c.1629C>G	c.(1627-1629)ctC>ctG	p.L543L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	543					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)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGTCTGACCTCATTCAACACA	0.448																																																	0													93.0	88.0	90.0					19																	57956145		2203	4300	6503	SO:0001819	synonymous_variant	388567			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1629C>G	19.37:g.57956145C>G				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.L543	ENST00000334181.4	37	c.1629	CCDS33132.2	19																																																																																			ZNF749	-	NULL		0.448	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	C	NM_001023561		57956145	+1	no_errors	ENST00000334181	ensembl	human	known	70_37	silent	SNP	0.000	G
ZNF767P	79970	genome.wustl.edu	37	7	149250078	149250078	+	RNA	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr7:149250078G>A	ENST00000463567.1	-	0	861					NR_027788.1		Q75MW2	ZN767_HUMAN												central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			agggcaaccagaacaaacaga	0.488																																																	0																																												79970																															7.37:g.149250078G>A			D3DWG6|Q86WY4|Q9H9J3	RNA	SNP	-	NULL	ENST00000463567.1	37	NULL		7																																																																																			ZNF767	-	-		0.488	ZNF767-001	KNOWN	basic	processed_transcript	ZNF767	HGNC	pseudogene	OTTHUMT00000352753.2	G			149250078	-1	no_errors	ENST00000463567	ensembl	human	known	70_37	rna	SNP	0.006	A
ZNF782	158431	genome.wustl.edu	37	9	99580528	99580528	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr9:99580528C>G	ENST00000481138.1	-	6	2438	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q	ZNF782_ENST00000535338.1_Missense_Mutation_p.E461Q|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CCACACTCCTCACATTGATAG	0.418																																																	0													136.0	133.0	134.0					9																	99580528		2203	4300	6503	SO:0001583	missense	158431			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1777G>C	9.37:g.99580528C>G	ENSP00000419397:p.Glu593Gln		B2RNR0	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.E593Q	ENST00000481138.1	37	c.1777	CCDS35075.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.54|10.54	1.379744|1.379744	0.24944|0.24944	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.07688|.	3.17;3.17|.	3.06|3.06	1.19|1.19	0.21007|0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|.	0.33294|.	0.0858|.	L|L	0.35793|0.35793	1.09|1.09	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.13594|.	0.008|.	B|.	0.14578|.	0.011|.	T|.	0.24905|.	-1.0147|.	9|.	0.49607|.	T|.	0.09|.	.|.	7.2077|7.2077	0.25917|0.25917	0.0:0.7637:0.0:0.2363|0.0:0.7637:0.0:0.2363	.|.	593|.	Q6ZMW2|.	ZN782_HUMAN|.	Q|S	593;461|581	ENSP00000419397:E593Q;ENSP00000440624:E461Q|.	ENSP00000419397:E593Q|.	E|X	-|-	1|2	0|2	ZNF782|ZNF782	98620349|98620349	0.000000|0.000000	0.05858|0.05858	0.919000|0.919000	0.36401|0.36401	0.930000|0.930000	0.56654|0.56654	-2.707000|-2.707000	0.00820|0.00820	0.327000|0.327000	0.23409|0.23409	0.655000|0.655000	0.94253|0.94253	GAG|TGA	ZNF782	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF782	HGNC	protein_coding	OTTHUMT00000356810.1	C	NM_001001662		99580528	-1	no_errors	ENST00000481138	ensembl	human	known	70_37	missense	SNP	0.374	G
ZNF785	146540	genome.wustl.edu	37	16	30594342	30594342	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:30594342C>T	ENST00000395216.2	-	3	916	c.757G>A	c.(757-759)Gag>Aag	p.E253K	RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.E238K	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TAAGGCTTCTCCCCGGTGTGA	0.657																																																	0													44.0	39.0	41.0					16																	30594342		2197	4300	6497	SO:0001583	missense	146540			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.757G>A	16.37:g.30594342C>T	ENSP00000378642:p.Glu253Lys		O75701|Q8IW91|Q8WV14|Q96MN0	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.E253K	ENST00000395216.2	37	c.757	CCDS10685.1	16	.	.	.	.	.	.	.	.	.	.	c	22.9	4.350973	0.82132	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.24350	1.86;1.86	3.48	2.49	0.30216	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36991	0.0987	L	0.61036	1.89	0.27295	N	0.957729	P;P;P	0.48294	0.687;0.908;0.637	B;P;B	0.53549	0.281;0.729;0.185	T	0.12218	-1.0556	9	0.59425	D	0.04	.	8.3926	0.32537	0.0:0.8721:0.0:0.1279	.	218;253;238	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	K	238;218;253	ENSP00000420340:E238K;ENSP00000378642:E253K	ENSP00000378642:E253K	E	-	1	0	ZNF785	30501843	0.972000	0.33761	0.773000	0.31616	0.540000	0.34992	2.940000	0.49003	1.018000	0.39521	0.644000	0.83932	GAG	ZNF785	-	pfscan_Znf_C2H2		0.657	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF785	HGNC	protein_coding	OTTHUMT00000255529.2	C	NM_152458		30594342	-1	no_errors	ENST00000395216	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF785	146540	genome.wustl.edu	37	16	30596840	30596840	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr16:30596840G>T	ENST00000395216.2	-	1	252	c.93C>A	c.(91-93)ttC>ttA	p.F31L	RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.F31L	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CCACGTCCGCGAAGCTCACGG	0.741																																																	0													13.0	14.0	14.0					16																	30596840		2185	4290	6475	SO:0001583	missense	146540			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.93C>A	16.37:g.30596840G>T	ENSP00000378642:p.Phe31Leu		O75701|Q8IW91|Q8WV14|Q96MN0	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.F31L	ENST00000395216.2	37	c.93	CCDS10685.1	16	.	.	.	.	.	.	.	.	.	.	g	15.17	2.754481	0.49362	.	.	ENSG00000197162	ENST00000470110;ENST00000395216	T;T	0.07114	3.22;3.22	3.97	-0.327	0.12694	Krueppel-associated box (4);	.	.	.	.	T	0.23572	0.0570	M	0.83384	2.64	0.09310	N	1	D;D	0.71674	0.998;0.997	D;P	0.64321	0.924;0.876	T	0.05616	-1.0874	9	0.56958	D	0.05	.	6.6071	0.22731	0.4329:0.0:0.5671:0.0	.	31;31	A8K8V0;A8K8V0-2	ZN785_HUMAN;.	L	31	ENSP00000420340:F31L;ENSP00000378642:F31L	ENSP00000378642:F31L	F	-	3	2	ZNF785	30504341	0.001000	0.12720	0.005000	0.12908	0.087000	0.18053	-0.342000	0.07801	-0.197000	0.10350	-0.225000	0.12378	TTC	ZNF785	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.741	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF785	HGNC	protein_coding	OTTHUMT00000255529.2	G	NM_152458		30596840	-1	no_errors	ENST00000395216	ensembl	human	known	70_37	missense	SNP	0.323	T
ZNF808	388558	genome.wustl.edu	37	19	53056534	53056534	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:53056534G>A	ENST00000359798.4	+	5	545	c.365G>A	c.(364-366)aGa>aAa	p.R122K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	122					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GAAGATGAAAGAAATGGCCAT	0.378																																																	0													158.0	162.0	161.0					19																	53056534		2203	4300	6503	SO:0001583	missense	388558			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.365G>A	19.37:g.53056534G>A	ENSP00000352846:p.Arg122Lys		Q68CN7	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.R122K	ENST00000359798.4	37	c.365	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	8.883	0.952191	0.18431	.	.	ENSG00000198482	ENST00000359798;ENST00000465448;ENST00000486474;ENST00000461321	T;T;T;T	0.04809	3.55;5.71;3.66;5.63	1.75	-0.992	0.10232	.	.	.	.	.	T	0.05410	0.0143	L	0.39397	1.21	0.09310	N	1	D	0.55605	0.972	P	0.55161	0.77	T	0.12941	-1.0528	9	0.02654	T	1	.	2.2223	0.03975	0.2035:0.0:0.497:0.2994	.	122	Q8N4W9	ZN808_HUMAN	K	122;122;53;122	ENSP00000352846:R122K;ENSP00000419291:R122K;ENSP00000418528:R53K;ENSP00000418696:R122K	ENSP00000352846:R122K	R	+	2	0	ZNF808	57748346	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-1.656000	0.01980	-0.364000	0.08088	0.305000	0.20034	AGA	ZNF808	-	NULL		0.378	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	G	NM_001039886		53056534	+1	no_errors	ENST00000359798	ensembl	human	known	70_37	missense	SNP	0.004	A
ZNF845	91664	genome.wustl.edu	37	19	53855360	53855360	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:53855360C>G	ENST00000595091.1	+	5	1651	c.1432C>G	c.(1432-1434)Cag>Gag	p.Q478E	ZNF845_ENST00000458035.1_Missense_Mutation_p.Q478E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GACCTTCAGTCAGACATCATC	0.378																																																	0													32.0	30.0	30.0					19																	53855360		692	1590	2282	SO:0001583	missense	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1432C>G	19.37:g.53855360C>G	ENSP00000470005:p.Gln478Glu			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.Q478E	ENST00000595091.1	37	c.1432	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	C	4.476	0.088190	0.08583	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.35421	1.31	2.08	0.98	0.19750	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32194	0.0821	L	0.31578	0.945	0.09310	N	1	P	0.45902	0.868	P	0.50659	0.647	T	0.17107	-1.0380	9	0.26408	T	0.33	.	7.5978	0.28058	0.0:0.8542:0.0:0.1458	.	478	Q96IR2	ZN845_HUMAN	E	478	ENSP00000388311:Q478E	ENSP00000412086:Q478E	Q	+	1	0	ZNF845	58547172	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-6.098000	0.00081	0.190000	0.20209	0.411000	0.27672	CAG	ZNF845	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	C	XM_039908		53855360	+1	no_errors	ENST00000458035	ensembl	human	known	70_37	missense	SNP	0.001	G
ZNF814	730051	genome.wustl.edu	37	19	58385113	58385113	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr19:58385113C>G	ENST00000435989.2	-	3	1879	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	549					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCCACACTCATAAAGTCTG	0.433																																																	0													135.0	110.0	117.0					19																	58385113		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1645G>C	19.37:g.58385113C>G	ENSP00000410545:p.Glu549Gln		A6NF35	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.E549Q	ENST00000435989.2	37	c.1645	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	7.793	0.711971	0.15306	.	.	ENSG00000204514	ENST00000435989	T	0.35789	1.29	1.67	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30792	0.0776	L	0.33792	1.035	0.09310	N	1	P	0.51791	0.948	P	0.51297	0.665	T	0.11155	-1.0599	9	0.36615	T	0.2	.	2.4004	0.04400	0.2987:0.5159:0.0:0.1853	.	549	B7Z6K7	ZN814_HUMAN	Q	549	ENSP00000410545:E549Q	ENSP00000410545:E549Q	E	-	1	0	ZNF814	63076925	0.000000	0.05858	0.218000	0.23776	0.056000	0.15407	-2.874000	0.00718	0.947000	0.37659	0.306000	0.20318	GAG	ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	C	XM_001725708		58385113	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	missense	SNP	0.124	G
ZNFX1	57169	genome.wustl.edu	37	20	47871106	47871106	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr20:47871106C>G	ENST00000396105.1	-	10	3131	c.2885G>C	c.(2884-2886)aGa>aCa	p.R962T	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R962T|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R962T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	962							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCGGCCATTCTTTCTGCTGA	0.512																																																	0													200.0	171.0	181.0					20																	47871106		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2885G>C	20.37:g.47871106C>G	ENSP00000379412:p.Arg962Thr		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.R962T	ENST00000396105.1	37	c.2885	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476134	0.84640	.	.	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	T;T;T	0.81415	-1.49;-1.49;-1.49	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.88477	0.6447	M	0.68593	2.085	0.58432	D	0.999992	D	0.89917	1.0	D	0.75020	0.985	D	0.85704	0.1315	10	0.30854	T	0.27	-15.573	18.6856	0.91562	0.0:1.0:0.0:0.0	.	962	Q9P2E3	ZNFX1_HUMAN	T	962	ENSP00000360819:R962T;ENSP00000360817:R962T;ENSP00000379412:R962T	ENSP00000360817:R962T	R	-	2	0	ZNFX1	47304513	0.989000	0.36119	1.000000	0.80357	0.995000	0.86356	3.054000	0.49908	2.763000	0.94921	0.561000	0.74099	AGA	ZNFX1	-	NULL		0.512	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	C	NM_021035		47871106	-1	no_errors	ENST00000371752	ensembl	human	known	70_37	missense	SNP	1.000	G
ZZEF1	23140	genome.wustl.edu	37	17	3928305	3928305	+	Silent	SNP	G	G	A			TCGA-IR-A3LH-01A-21D-A20U-09	TCGA-IR-A3LH-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5be7200e-4af1-4936-8f1e-5ada6dc89179	f578da11-7920-4c6b-90b0-e1e88da344f9	g.chr17:3928305G>A	ENST00000381638.2	-	43	7124	c.7000C>T	c.(7000-7002)Ctg>Ttg	p.L2334L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2334							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGCTTTGCAGAAGGTGACTG	0.542																																																	0													105.0	95.0	99.0					17																	3928305		2203	4300	6503	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7000C>T	17.37:g.3928305G>A			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.L2334	ENST00000381638.2	37	c.7000	CCDS11043.1	17																																																																																			ZZEF1	-	NULL		0.542	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	G	NM_015113		3928305	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	silent	SNP	1.000	A
