#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
AADAT	51166	genome.wustl.edu	37	4	170991780	170991780	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:170991780G>A	ENST00000337664.4	-	6	954	c.678C>T	c.(676-678)ctC>ctT	p.L226L	AADAT_ENST00000515480.1_Silent_p.L226L|AADAT_ENST00000353187.2_Silent_p.L226L|AADAT_ENST00000509167.1_Silent_p.L230L	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	226					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.L226L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		CTTCTATTATGAGGAAATCAT	0.254																																																	1	Substitution - coding silent(1)	cervix(1)											62.0	68.0	66.0					4																	170991780		2199	4290	6489	SO:0001819	synonymous_variant	51166			AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.678C>T	4.37:g.170991780G>A			B3KP84|Q9UL02	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L230	ENST00000337664.4	37	c.690	CCDS3814.1	4																																																																																			AADAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.254	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	AADAT	HGNC	protein_coding	OTTHUMT00000362952.1	G	NM_016228		170991780	-1	no_errors	ENST00000509167	ensembl	human	known	70_37	silent	SNP	1.000	A
AATF	26574	genome.wustl.edu	37	17	35346678	35346678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:35346678C>T	ENST00000225402.5	+	7	1533	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	428	RB1 and SP1 binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q428*(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GCCAGCAGCTCAGCCTGTCCC	0.463																																					NSCLC(49;901 1159 19183 41572 46244)												1	Substitution - Nonsense(1)	cervix(1)											121.0	127.0	125.0					17																	35346678		2203	4300	6503	SO:0001587	stop_gained	26574			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1282C>T	17.37:g.35346678C>T	ENSP00000225402:p.Gln428*		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Nonsense_Mutation	SNP	pfam_AATF_C	p.Q428*	ENST00000225402.5	37	c.1282	CCDS32632.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.184410	0.97357	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.2	3.07	0.35406	.	0.404283	0.27768	N	0.017921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.839	15.5582	0.76216	0.0:0.5988:0.4012:0.0	.	.	.	.	X	428	.	ENSP00000225402:Q428X	Q	+	1	0	AATF	32420791	0.000000	0.05858	0.715000	0.30552	0.680000	0.39746	0.597000	0.24059	1.144000	0.42321	0.467000	0.42956	CAG	AATF	-	NULL		0.463	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATF	HGNC	protein_coding	OTTHUMT00000451543.1	C	NM_012138		35346678	+1	no_errors	ENST00000225402	ensembl	human	known	70_37	nonsense	SNP	0.188	T
ABCA10	10349	genome.wustl.edu	37	17	67212121	67212121	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:67212121C>G	ENST00000269081.4	-	9	1602	c.693G>C	c.(691-693)atG>atC	p.M231I	ABCA10_ENST00000432313.2_Missense_Mutation_p.M231I|ABCA10_ENST00000416101.2_Missense_Mutation_p.M231I	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	231					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.M231I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTAAAACACTCATGAGGAAAG	0.373																																																	1	Substitution - Missense(1)	cervix(1)											64.0	66.0	65.0					17																	67212121		2203	4300	6503	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.693G>C	17.37:g.67212121C>G	ENSP00000269081:p.Met231Ile		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.M231I	ENST00000269081.4	37	c.693	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613064	0.28712	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.85088	-1.94;-1.94;-1.94	3.21	-2.04	0.07343	.	0.369279	0.14304	U	0.328120	T	0.82047	0.4952	M	0.83483	2.645	0.09310	N	0.999998	B;B	0.28128	0.201;0.051	B;B	0.35278	0.199;0.042	T	0.71623	-0.4537	10	0.40728	T	0.16	.	1.1252	0.01733	0.1612:0.2992:0.3181:0.2216	.	231;231	E5RFP5;Q8WWZ4	.;ABCAA_HUMAN	I	231	ENSP00000269081:M231I;ENSP00000407772:M231I;ENSP00000387674:M231I	ENSP00000269081:M231I	M	-	3	0	ABCA10	64723716	0.014000	0.17966	0.111000	0.21465	0.917000	0.54804	-0.214000	0.09292	-0.181000	0.10619	0.514000	0.50259	ATG	ABCA10	-	NULL		0.373	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	C	NM_080282		67212121	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	missense	SNP	0.002	G
ABCC5	10057	genome.wustl.edu	37	3	183669665	183669665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:183669665G>A	ENST00000334444.6	-	19	3034	c.2794C>T	c.(2794-2796)Cga>Tga	p.R932*	ABCC5_ENST00000265586.6_Nonsense_Mutation_p.R932*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	932	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|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)	p.R932*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ACAACTCCTCGAATGGCTTTC	0.537																																																	1	Substitution - Nonsense(1)	cervix(1)											135.0	144.0	141.0					3																	183669665		2126	4245	6371	SO:0001587	stop_gained	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2794C>T	3.37:g.183669665G>A	ENSP00000333926:p.Arg932*		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Nonsense_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	p.R932*	ENST00000334444.6	37	c.2794	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.348850	0.98772	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	.	.	.	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5632	16.5091	0.84279	0.0:0.0:0.868:0.132	.	.	.	.	X	932	.	ENSP00000265586:R932X	R	-	1	2	ABCC5	185152359	1.000000	0.71417	0.386000	0.26170	0.977000	0.68977	4.783000	0.62403	1.489000	0.48450	-0.182000	0.12963	CGA	ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.537	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	G	NM_005688		183669665	-1	no_errors	ENST00000334444	ensembl	human	known	70_37	nonsense	SNP	0.990	A
ABCC6	368	genome.wustl.edu	37	16	16255325	16255325	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:16255325G>C	ENST00000205557.7	-	25	3632	c.3603C>G	c.(3601-3603)ctC>ctG	p.L1201L		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1201	ABC transmembrane type-1 2. {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)	p.L1201L(1)		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)	AGAAGCCCACGAGGCCAGCAC	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											67.0	62.0	64.0					16																	16255325		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.3603C>G	16.37:g.16255325G>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.L1201	ENST00000205557.7	37	c.3603	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			16255325	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	silent	SNP	1.000	C
ABCC6	368	genome.wustl.edu	37	16	16282745	16282745	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:16282745G>C	ENST00000205557.7	-	13	1751	c.1722C>G	c.(1720-1722)ctC>ctG	p.L574L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	574	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)	p.L574L(1)		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)	TGAGGATGTTGAGAACTGTGA	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											101.0	88.0	92.0					16																	16282745		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.1722C>G	16.37:g.16282745G>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.L574	ENST00000205557.7	37	c.1722	CCDS10568.1	16																																																																																			ABCC6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc		0.587	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	G			16282745	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	silent	SNP	0.999	C
ABCC6P1	653190	genome.wustl.edu	37	16	18602481	18602481	+	RNA	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:18602481G>C	ENST00000546162.2	+	0	1055					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		GGAGGCTCCAGAGACTGAGCC	0.557																																																	0																																												653190			BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18602481G>C				RNA	SNP	-	NULL	ENST00000546162.2	37	NULL		16	.	.	.	.	.	.	.	.	.	.	.	6.536	0.467194	0.12402	.	.	ENSG00000256340	ENST00000546162	.	.	.	3.08	3.08	0.35506	.	.	.	.	.	T	0.41143	0.1146	.	.	.	.	.	.	B;B	0.24132	0.011;0.098	B;B	0.17722	0.019;0.012	T	0.53913	-0.8371	6	0.62326	D	0.03	.	9.7601	0.40526	0.0:0.0:1.0:0.0	.	170;284	B7Z554;A2RRN8	.;.	Q	170	.	ENSP00000443361:E170Q	E	+	1	0	ABCC6P1	18509982	1.000000	0.71417	0.014000	0.15608	0.003000	0.03518	4.546000	0.60705	1.687000	0.51057	0.400000	0.26472	GAG	ABCC6P1	-	-		0.557	ABCC6P1-004	KNOWN	basic	processed_transcript	ABCC6P1	HGNC	pseudogene	OTTHUMT00000435772.2	G	NR_003569		18602481	+1	no_errors	ENST00000546162	ensembl	human	known	70_37	rna	SNP	0.606	C
ABCC8	6833	genome.wustl.edu	37	11	17429944	17429944	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:17429944C>G	ENST00000389817.3	-	23	2883	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	ABCC8_ENST00000302539.4_Missense_Mutation_p.E940Q			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	939					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.E939Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCCACCTTCTCCAGCTCTTGG	0.547																																																	1	Substitution - Missense(1)	cervix(1)											91.0	84.0	86.0					11																	17429944		2200	4293	6493	SO:0001583	missense	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2815G>C	11.37:g.17429944C>G	ENSP00000374467:p.Glu939Gln		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E940Q	ENST00000389817.3	37	c.2818	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023300	0.54683	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.92495	-3.05;-3.04	6.04	5.13	0.70059	.	0.056050	0.64402	D	0.000001	D	0.89639	0.6773	L	0.56280	1.765	0.51482	D	0.999924	B	0.25563	0.129	B	0.29524	0.103	D	0.85731	0.1331	10	0.36615	T	0.2	.	13.0581	0.58992	0.0:0.9267:0.0:0.0733	.	939	Q09428	ABCC8_HUMAN	Q	939;940;943	ENSP00000374467:E939Q;ENSP00000303960:E940Q	ENSP00000303960:E940Q	E	-	1	0	ABCC8	17386520	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.595000	0.61048	2.873000	0.98535	0.563000	0.77884	GAG	ABCC8	-	NULL		0.547	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	C	NM_000352		17429944	-1	no_errors	ENST00000302539	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCD4	5826	genome.wustl.edu	37	14	74756735	74756735	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:74756735C>T	ENST00000356924.4	-	13	1557	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	ABCD4_ENST00000557554.1_5'Flank|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.E368K	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	472	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.E472K(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTGACCTGCTCCCGAAGGGTC	0.602											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											93.0	94.0	93.0					14																	74756735		2203	4300	6503	SO:0001583	missense	5826			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1414G>A	14.37:g.74756735C>T	ENSP00000349396:p.Glu472Lys	1155	A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E472K	ENST00000356924.4	37	c.1414	CCDS9828.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.711410	0.96821	.	.	ENSG00000119688	ENST00000356924;ENST00000298816	D;D	0.99881	-3.6;-7.47	5.76	5.76	0.90799	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.77486	2.375	0.80722	D	1	B;P;P	0.35575	0.433;0.51;0.51	B;B;P	0.51516	0.156;0.446;0.672	D	0.95774	0.8811	10	0.66056	D	0.02	.	19.9559	0.97218	0.0:1.0:0.0:0.0	.	368;472;472	F8W7M4;A8K5L7;O14678	.;.;ABCD4_HUMAN	K	472;368	ENSP00000349396:E472K;ENSP00000298816:E368K	ENSP00000298816:E368K	E	-	1	0	ABCD4	73826488	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.656000	0.83736	2.728000	0.93425	0.462000	0.41574	GAG	ABCD4	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.602	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	HGNC	protein_coding	OTTHUMT00000314382.1	C	NM_005050		74756735	-1	no_errors	ENST00000356924	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCF3	55324	genome.wustl.edu	37	3	183910898	183910898	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:183910898G>C	ENST00000429586.2	+	19	1944	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	ABCF3_ENST00000292808.5_Missense_Mutation_p.E581Q|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	587	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E587Q(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGCGGCCTGAGGAGGAGTA	0.632																																																	1	Substitution - Missense(1)	cervix(1)											63.0	60.0	61.0					3																	183910898		2203	4300	6503	SO:0001583	missense	55324			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1759G>C	3.37:g.183910898G>C	ENSP00000411471:p.Glu587Gln		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E587Q	ENST00000429586.2	37	c.1759	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270846	0.40194	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.93604	-3.25;-3.25	4.8	4.8	0.61643	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	L	0.47078	1.49	0.80722	D	1	B;B	0.29341	0.12;0.242	B;B	0.25987	0.047;0.065	D	0.87233	0.2261	10	0.21540	T	0.41	-25.4427	17.3916	0.87432	0.0:0.0:1.0:0.0	.	581;587	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	Q	587;581	ENSP00000411471:E587Q;ENSP00000292808:E581Q	ENSP00000292808:E581Q	E	+	1	0	ABCF3	185393592	1.000000	0.71417	0.999000	0.59377	0.558000	0.35554	9.559000	0.98135	2.650000	0.89964	0.563000	0.77884	GAG	ABCF3	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.632	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	HGNC	protein_coding	OTTHUMT00000346047.1	G	NM_018358		183910898	+1	no_errors	ENST00000429586	ensembl	human	known	70_37	missense	SNP	1.000	C
ACADVL	37	genome.wustl.edu	37	17	7125395	7125395	+	Nonsense_Mutation	SNP	G	G	A	rs141167669		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:7125395G>A	ENST00000356839.5	+	8	926	c.747G>A	c.(745-747)tgG>tgA	p.W249*	ACADVL_ENST00000350303.5_Nonsense_Mutation_p.W227*|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Nonsense_Mutation_p.W272*|DLG4_ENST00000399510.2_5'Flank	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	249	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)	p.W249*(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GCAAGCTTTGGATCAGGCAAC	0.577																																																	1	Substitution - Nonsense(1)	cervix(1)											122.0	121.0	121.0					17																	7125395		2203	4300	6503	SO:0001587	stop_gained	37			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.747G>A	17.37:g.7125395G>A	ENSP00000349297:p.Trp249*		B4DEB6|F5H2A9|O76056|Q8WUL0	Nonsense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.W249*	ENST00000356839.5	37	c.747	CCDS11090.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.288343	0.97444	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	.	.	.	5.53	5.53	0.82687	.	0.124213	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9874	0.86344	0.0:0.0:1.0:0.0	.	.	.	.	X	272;295;227;249;295	.	ENSP00000325395:W249X	W	+	3	0	ACADVL	7066119	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.624000	0.90961	2.605000	0.88082	0.655000	0.94253	TGG	ACADVL	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase		0.577	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ACADVL	HGNC	protein_coding	OTTHUMT00000220001.5	G	NM_000018		7125395	+1	no_errors	ENST00000356839	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ACAN	176	genome.wustl.edu	37	15	89391202	89391202	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:89391202C>T	ENST00000561243.1	+	8	1665	c.1665C>T	c.(1663-1665)gtC>gtT	p.V555V	ACAN_ENST00000558207.1_Silent_p.V555V|ACAN_ENST00000352105.7_Silent_p.V555V|ACAN_ENST00000439576.2_Silent_p.V555V|ACAN_ENST00000559004.1_Silent_p.V555V			P16112	PGCA_HUMAN	aggrecan	555	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.V555V(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCCAGGGGTCAGGACCTATG	0.567																																																	2	Substitution - coding silent(2)	cervix(2)											103.0	109.0	107.0					15																	89391202		1985	4156	6141	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1665C>T	15.37:g.89391202C>T			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.V555	ENST00000561243.1	37	c.1665	CCDS53970.1	15																																																																																			ACAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.567	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	C	NM_001135		89391202	+1	no_errors	ENST00000439576	ensembl	human	known	70_37	silent	SNP	0.962	T
ACLY	47	genome.wustl.edu	37	17	40054047	40054047	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:40054047C>T	ENST00000352035.2	-	13	1514	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	ACLY_ENST00000537919.1_Missense_Mutation_p.D201N|ACLY_ENST00000393896.2_Missense_Mutation_p.D462N|ACLY_ENST00000353196.1_Missense_Mutation_p.D462N|ACLY_ENST00000590151.1_Missense_Mutation_p.D462N	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	462					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.D462N(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCACCTCATCGGCCCTGGAC	0.572																																					Colon(64;807 1396 15971 30971)												1	Substitution - Missense(1)	cervix(1)											46.0	43.0	44.0					17																	40054047		2203	4300	6503	SO:0001583	missense	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1384G>A	17.37:g.40054047C>T	ENSP00000253792:p.Asp462Asn		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.D462N	ENST00000352035.2	37	c.1384	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800430	0.50315	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;D;T	0.88431	-1.37;-1.4;-2.38;-1.4	5.52	5.52	0.82312	.	0.376698	0.31312	N	0.007880	T	0.76162	0.3949	N	0.03608	-0.345	0.44018	D	0.996736	B;B;B;B;B	0.26318	0.001;0.146;0.0;0.0;0.0	B;B;B;B;B	0.14578	0.0;0.011;0.0;0.001;0.0	T	0.73023	-0.4113	10	0.14252	T	0.57	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	201;516;516;462;462	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	N	462;516;462;201;462	ENSP00000253792:D462N;ENSP00000345398:D462N;ENSP00000445349:D201N;ENSP00000377474:D462N	ENSP00000253792:D462N	D	-	1	0	ACLY	37307573	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.875000	0.56108	2.595000	0.87683	0.655000	0.94253	GAT	ACLY	-	pirsf_ATP-citrate_synthase		0.572	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	C	NM_001096		40054047	-1	no_errors	ENST00000352035	ensembl	human	known	70_37	missense	SNP	1.000	T
ACE	1636	genome.wustl.edu	37	17	61574500	61574500	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:61574500C>T	ENST00000290866.4	+	25	3718	c.3694C>T	c.(3694-3696)Cgc>Tgc	p.R1232C	ACE_ENST00000413513.3_Missense_Mutation_p.R617C|ACE_ENST00000577647.1_Intron|ACE_ENST00000421982.2_Missense_Mutation_p.R437C|ACE_ENST00000290863.6_Missense_Mutation_p.R658C|ACE_ENST00000490216.2_Intron|ACE_ENST00000428043.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1232	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCGCTCAGCTCGCTCAGAAGG	0.716																																																	0													12.0	15.0	14.0					17																	61574500		2185	4257	6442	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3694C>T	17.37:g.61574500C>T	ENSP00000290866:p.Arg1232Cys		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.R1232C	ENST00000290866.4	37	c.3694	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	c	11.96	1.793986	0.31777	.	.	ENSG00000159640	ENST00000290866;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T	0.35236	1.32;1.51;1.44;1.54	4.43	2.18	0.27775	.	1.213750	0.05696	N	0.593099	T	0.51924	0.1703	M	0.68317	2.08	0.28609	N	0.908763	D;D;D;D	0.57571	0.98;0.978;0.976;0.978	P;P;P;B	0.52856	0.711;0.513;0.707;0.265	T	0.49698	-0.8912	10	0.72032	D	0.01	-0.2921	12.4915	0.55903	0.0:0.5844:0.4156:0.0	.	437;617;658;1232	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	C	1232;658;617;437	ENSP00000290866:R1232C;ENSP00000290863:R658C;ENSP00000392247:R617C;ENSP00000387760:R437C	ENSP00000290863:R658C	R	+	1	0	ACE	58928232	0.013000	0.17824	0.770000	0.31555	0.081000	0.17604	0.802000	0.27069	0.964000	0.38108	0.550000	0.68814	CGC	ACE	-	NULL		0.716	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	C			61574500	+1	no_errors	ENST00000290866	ensembl	human	known	70_37	missense	SNP	0.295	T
ACOT12	134526	genome.wustl.edu	37	5	80626308	80626308	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:80626308G>C	ENST00000307624.3	-	15	1601	c.1573C>G	c.(1573-1575)Ctt>Gtt	p.L525V	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	525	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.L525V(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAGCCACCAAGATTTCCAGCA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											76.0	79.0	78.0					5																	80626308		2203	4300	6503	SO:0001583	missense	134526			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1573C>G	5.37:g.80626308G>C	ENSP00000303246:p.Leu525Val		B3KVK9|Q5FWE9	Missense_Mutation	SNP	pfam_Thioestr_supf,pfam_START_lipid-bd,pfscan_START_lipid-bd	p.L525V	ENST00000307624.3	37	c.1573	CCDS4055.1	5	.	.	.	.	.	.	.	.	.	.	G	9.530	1.110486	0.20714	.	.	ENSG00000172497	ENST00000307624	T	0.14893	2.47	5.47	2.25	0.28309	.	0.220986	0.37530	N	0.002050	T	0.14787	0.0357	L	0.45698	1.435	0.80722	D	1	B	0.20164	0.042	B	0.25614	0.062	T	0.07121	-1.0789	10	0.15952	T	0.53	-4.4394	11.4949	0.50402	0.0:0.0:0.5817:0.4183	.	525	Q8WYK0	ACO12_HUMAN	V	525	ENSP00000303246:L525V	ENSP00000303246:L525V	L	-	1	0	ACOT12	80662064	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.654000	0.37334	0.686000	0.31488	0.561000	0.74099	CTT	ACOT12	-	NULL		0.363	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT12	HGNC	protein_coding	OTTHUMT00000254074.1	G	NM_130767		80626308	-1	no_errors	ENST00000307624	ensembl	human	known	70_37	missense	SNP	0.997	C
ACTL10	170487	genome.wustl.edu	37	20	32256027	32256027	+	Missense_Mutation	SNP	G	G	A	rs370919410		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:32256027G>A	ENST00000330271.4	+	1	1724	c.724G>A	c.(724-726)Gat>Aat	p.D242N	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	242								p.D242N(2)									GCTGCTGTACGATGTGTTCAA	0.612											OREG0025871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	cervix(2)											28.0	32.0	31.0					20																	32256027		2197	4294	6491	SO:0001583	missense	170487			AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 134"""	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.724G>A	20.37:g.32256027G>A	ENSP00000329647:p.Asp242Asn	831	B9EH76	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.D242N	ENST00000330271.4	37	c.724	CCDS33463.1	20	.	.	.	.	.	.	.	.	.	.	g	14.50	2.553575	0.45487	.	.	ENSG00000182584	ENST00000330271	T	0.08008	3.14	4.59	2.61	0.31194	.	0.508572	0.16439	N	0.214390	T	0.03095	0.0091	N	0.01874	-0.695	0.25607	N	0.986531	B	0.28801	0.223	B	0.25759	0.063	T	0.38134	-0.9675	10	0.87932	D	0	-0.0029	6.9313	0.24444	0.0954:0.1772:0.7274:0.0	.	242	Q5JWF8	CT134_HUMAN	N	242	ENSP00000329647:D242N	ENSP00000329647:D242N	D	+	1	0	C20orf134	31719688	0.080000	0.21391	0.906000	0.35671	0.719000	0.41307	0.394000	0.20834	0.544000	0.28883	0.457000	0.33378	GAT	ACTL10	-	smart_Actin-like		0.612	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ACTL10	HGNC	protein_coding	OTTHUMT00000078713.1	G			32256027	+1	no_errors	ENST00000330271	ensembl	human	putative	70_37	missense	SNP	0.868	A
ACSS2	55902	genome.wustl.edu	37	20	33500927	33500927	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:33500927C>G	ENST00000360596.2	+	3	614	c.403C>G	c.(403-405)Cag>Gag	p.Q135E	ACSS2_ENST00000253382.5_Missense_Mutation_p.Q135E|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.Q85E	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	135					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.Q135E(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGAGACCACTCAGATCACATA	0.512																																																	2	Substitution - Missense(2)	cervix(2)											171.0	159.0	163.0					20																	33500927		2203	4300	6503	SO:0001583	missense	55902			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.403C>G	20.37:g.33500927C>G	ENSP00000353804:p.Gln135Glu		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.Q135E	ENST00000360596.2	37	c.403	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166714	0.21621	.	.	ENSG00000131069	ENST00000488172;ENST00000336325;ENST00000360596;ENST00000374693;ENST00000484354;ENST00000493805;ENST00000473172;ENST00000253382	T;T;T;T;T;T;T	0.39787	1.46;1.46;1.46;1.46;1.06;1.06;1.46	5.34	4.37	0.52481	.	0.521987	0.21841	N	0.068327	T	0.22044	0.0531	N	0.12569	0.235	0.21740	N	0.999568	B;B	0.09022	0.002;0.0	B;B	0.14023	0.01;0.002	T	0.12656	-1.0539	10	0.24483	T	0.36	-10.0122	6.8156	0.23829	0.4095:0.5077:0.0:0.0828	.	135;135	Q5QPH3;Q9NR19	.;ACSA_HUMAN	E	85;85;135;135;127;153;148;135	ENSP00000417783:Q85E;ENSP00000337190:Q85E;ENSP00000353804:Q135E;ENSP00000419167:Q127E;ENSP00000418812:Q153E;ENSP00000419925:Q148E;ENSP00000253382:Q135E	ENSP00000253382:Q135E	Q	+	1	0	ACSS2	32964588	0.062000	0.20869	0.999000	0.59377	0.977000	0.68977	0.754000	0.26390	1.418000	0.47098	0.655000	0.94253	CAG	ACSS2	-	tigrfam_Ac_CoA_lig		0.512	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	C	NM_018677		33500927	+1	no_errors	ENST00000360596	ensembl	human	known	70_37	missense	SNP	0.988	G
ADAM15	8751	genome.wustl.edu	37	1	155028694	155028694	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155028694C>G	ENST00000356955.2	+	9	984	c.883C>G	c.(883-885)Cga>Gga	p.R295G	ADAM15_ENST00000447332.3_Missense_Mutation_p.R279G|ADAM15_ENST00000368412.3_Missense_Mutation_p.R295G|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.R295G|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.R295G|ADAM15_ENST00000360674.4_Missense_Mutation_p.R295G|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Missense_Mutation_p.R295G|ADAM15_ENST00000449910.2_Missense_Mutation_p.R295G|ADAM15_ENST00000531455.1_Missense_Mutation_p.R305G	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	295	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R295G(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	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)			TTTGCTGCCTCGATTGCCCCA	0.617																																																	1	Substitution - Missense(1)	cervix(1)											65.0	63.0	64.0					1																	155028694		2203	4300	6503	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.883C>G	1.37:g.155028694C>G	ENSP00000349436:p.Arg295Gly		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R295G	ENST00000356955.2	37	c.883	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295615	0.60086	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.0	2.96	0.34315	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.214512	0.23389	N	0.048709	T	0.72137	0.3423	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.994;0.999;1.0;1.0;1.0;0.998;0.995	D;D;D;D;D;D;D;D;D;D	0.79784	0.992;0.99;0.983;0.954;0.992;0.993;0.982;0.982;0.984;0.973	T	0.75402	-0.3330	10	0.87932	D	0	.	11.4714	0.50270	0.3873:0.6127:0.0:0.0	.	305;312;279;295;295;295;295;295;295;295	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	G	295;295;295;295;295;295;295;305	ENSP00000349436:R295G;ENSP00000403843:R295G;ENSP00000352226:R295G;ENSP00000353892:R295G;ENSP00000357397:R295G;ENSP00000348227:R295G;ENSP00000271836:R295G;ENSP00000432927:R305G	ENSP00000271836:R295G	R	+	1	2	ADAM15	153295318	0.483000	0.25956	0.977000	0.42913	0.494000	0.33585	0.990000	0.29642	0.538000	0.28769	0.462000	0.41574	CGA	ADAM15	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.617	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	C	NM_003815		155028694	+1	no_errors	ENST00000356955	ensembl	human	known	70_37	missense	SNP	0.993	G
ADAM17	6868	genome.wustl.edu	37	2	9645420	9645420	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:9645420G>A	ENST00000310823.3	-	12	1601	c.1419C>T	c.(1417-1419)cgC>cgT	p.R473R	RP11-400L8.2_ENST00000480764.1_RNA|RP11-400L8.2_ENST00000472619.1_RNA	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	473	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.R473R(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTTATTGCTGCGTTCTTGAA	0.433																																																	1	Substitution - coding silent(1)	cervix(1)											176.0	153.0	161.0					2																	9645420		2203	4300	6503	SO:0001819	synonymous_variant	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1419C>T	2.37:g.9645420G>A			O60226	Silent	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.R473	ENST00000310823.3	37	c.1419	CCDS1665.1	2																																																																																			ADAM17	-	pfscan_Peptidase_M12B		0.433	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9645420	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	silent	SNP	1.000	A
ADAM17	6868	genome.wustl.edu	37	2	9645487	9645487	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:9645487G>A	ENST00000310823.3	-	12	1534	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	RP11-400L8.2_ENST00000480764.1_RNA|RP11-400L8.2_ENST00000472619.1_RNA	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	451	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.S451L(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACTGCAGTTTGAAAACATCTT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											96.0	90.0	92.0					2																	9645487		2203	4300	6503	SO:0001583	missense	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1352C>T	2.37:g.9645487G>A	ENSP00000309968:p.Ser451Leu		O60226	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.S451L	ENST00000310823.3	37	c.1352	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.086862	0.94100	.	.	ENSG00000151694	ENST00000310823	D	0.92752	-3.1	5.66	5.66	0.87406	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97559	1.0097	10	0.87932	D	0	.	19.7432	0.96238	0.0:0.0:1.0:0.0	.	451;451	B2RNB2;P78536	.;ADA17_HUMAN	L	451	ENSP00000309968:S451L	ENSP00000309968:S451L	S	-	2	0	ADAM17	9562938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.471000	0.97696	2.649000	0.89929	0.557000	0.71058	TCA	ADAM17	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.363	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9645487	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS9	56999	genome.wustl.edu	37	3	64536684	64536684	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:64536684C>G	ENST00000498707.1	-	31	5095	c.4753G>C	c.(4753-4755)Gac>Cac	p.D1585H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D1557H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1585	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1585H(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTTTTGTTGTCATCCACACAC	0.517																																																	1	Substitution - Missense(1)	cervix(1)											206.0	176.0	186.0					3																	64536684		2203	4300	6503	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4753G>C	3.37:g.64536684C>G	ENSP00000418735:p.Asp1585His		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D1585H	ENST00000498707.1	37	c.4753	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.736|8.736	0.917732|0.917732	0.17982|0.17982	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.53206|.	0.63;0.63|.	5.83|5.83	4.96|4.96	0.65561|0.65561	.|.	0.471046|.	0.24211|.	N|.	0.040540|.	T|T	0.33614|0.33614	0.0869|0.0869	N|N	0.21448|0.21448	0.665|0.665	0.30002|0.30002	N|N	0.815962|0.815962	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.002;0.0;0.002|.	T|T	0.27640|0.27640	-1.0068|-1.0068	10|5	0.45353|.	T|.	0.12|.	.|.	11.2752|11.2752	0.49163|0.49163	0.0:0.8043:0.1272:0.0685|0.0:0.8043:0.1272:0.0685	.|.	1557;1585;1585|.	B7ZVX9;Q9P2N4-1;Q9P2N4|.	.;.;ATS9_HUMAN|.	H|I	1557;1585|640	ENSP00000295903:D1557H;ENSP00000418735:D1585H|.	ENSP00000295903:D1557H|.	D|M	-|-	1|3	0|0	ADAMTS9|ADAMTS9	64511724|64511724	0.138000|0.138000	0.22547|0.22547	0.005000|0.005000	0.12908|0.12908	0.328000|0.328000	0.28507|0.28507	2.401000|2.401000	0.44513|0.44513	1.474000|1.474000	0.48178|0.48178	0.585000|0.585000	0.79938|0.79938	GAC|ATG	ADAMTS9	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.517	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	C			64536684	-1	no_errors	ENST00000498707	ensembl	human	known	70_37	missense	SNP	0.089	G
ADCY1	107	genome.wustl.edu	37	7	45662258	45662258	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:45662258C>G	ENST00000297323.7	+	4	958	c.936C>G	c.(934-936)ttC>ttG	p.F312L	ADCY1_ENST00000432715.1_Missense_Mutation_p.F87L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	312					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.F312L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCGTGGGTTTCACGGGCTTGG	0.527																																																	1	Substitution - Missense(1)	cervix(1)											105.0	96.0	99.0					7																	45662258		2203	4300	6503	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.936C>G	7.37:g.45662258C>G	ENSP00000297323:p.Phe312Leu		A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.F312L	ENST00000297323.7	37	c.936	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465815	0.84425	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.87729	-2.29;-2.29	5.03	4.16	0.48862	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96294	0.8791	H	0.99650	4.68	0.80722	D	1	D;D	0.71674	0.982;0.998	P;D	0.77004	0.787;0.989	D	0.96487	0.9361	10	0.87932	D	0	.	11.2191	0.48844	0.0:0.9112:0.0:0.0888	.	312;87	Q08828;C9J1J0	ADCY1_HUMAN;.	L	87;312;312	ENSP00000392721:F87L;ENSP00000297323:F312L	ENSP00000297323:F312L	F	+	3	2	ADCY1	45628783	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.771000	0.47670	1.331000	0.45412	0.655000	0.94253	TTC	ADCY1	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.527	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	C	NM_021116		45662258	+1	no_errors	ENST00000297323	ensembl	human	known	70_37	missense	SNP	1.000	G
ADCY2	108	genome.wustl.edu	37	5	7802390	7802390	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:7802390C>T	ENST00000338316.4	+	21	2777	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	ADCY2_ENST00000537121.1_Silent_p.F716F	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	896					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.F896F(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCCGGATTTCAAAGAATTTT	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											79.0	79.0	79.0					5																	7802390		2203	4300	6503	SO:0001819	synonymous_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2688C>T	5.37:g.7802390C>T			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.F896	ENST00000338316.4	37	c.2688	CCDS3872.2	5																																																																																			ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.478	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	C	NM_020546		7802390	+1	no_errors	ENST00000338316	ensembl	human	known	70_37	silent	SNP	1.000	T
ADCY3	109	genome.wustl.edu	37	2	25061765	25061765	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:25061765C>G	ENST00000260600.5	-	7	2207				ADCY3_ENST00000405392.1_Missense_Mutation_p.E69Q	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACAATCTTTCTTCAATCTTT	0.453																																																	0													97.0	92.0	93.0					2																	25061765		876	1991	2867	SO:0001627	intron_variant	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1356-274G>C	2.37:g.25061765C>G			B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E69Q	ENST00000260600.5	37	c.205	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	C	5.890	0.348273	0.11126	.	.	ENSG00000138031	ENST00000405392	D	0.86230	-2.09	1.9	1.9	0.25705	.	.	.	.	.	T	0.79667	0.4485	.	.	.	0.09310	N	1	B	0.21309	0.054	B	0.15870	0.014	T	0.71487	-0.4578	8	0.87932	D	0	.	7.3333	0.26594	0.0:1.0:0.0:0.0	.	69	B3KT86	.	Q	69	ENSP00000384484:E69Q	ENSP00000384484:E69Q	E	-	1	0	ADCY3	24915269	0.009000	0.17119	0.044000	0.18714	0.016000	0.09150	0.496000	0.22499	1.391000	0.46566	0.655000	0.94253	GAA	ADCY3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase		0.453	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	C			25061765	-1	no_errors	ENST00000405392	ensembl	human	novel	70_37	missense	SNP	0.328	G
ADCY7	113	genome.wustl.edu	37	16	50332831	50332831	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:50332831G>A	ENST00000394697.2	+	8	1305	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	ADCY7_ENST00000538642.1_Missense_Mutation_p.R322Q|ADCY7_ENST00000254235.3_Missense_Mutation_p.R322Q|ADCY7_ENST00000537579.1_Missense_Mutation_p.R322Q|ADCY7_ENST00000566433.2_Missense_Mutation_p.R322Q|ADCY7_ENST00000564044.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	322	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.R322Q(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GAGTGCATGCGAATCAAGATC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											120.0	93.0	102.0					16																	50332831		2198	4300	6498	SO:0001583	missense	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.965G>A	16.37:g.50332831G>A	ENSP00000378187:p.Arg322Gln		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R322Q	ENST00000394697.2	37	c.965	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.859661	0.97036	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.51	5.51	0.81932	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.41938	U	0.000796	D	0.93229	0.7843	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94858	0.8019	10	0.87932	D	0	.	19.3876	0.94564	0.0:0.0:1.0:0.0	.	322;322	P51828;F5H4D1	ADCY7_HUMAN;.	Q	322	ENSP00000445046:R322Q;ENSP00000378187:R322Q;ENSP00000437788:R322Q;ENSP00000254235:R322Q	ENSP00000254235:R322Q	R	+	2	0	ADCY7	48890332	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.860000	0.99555	2.577000	0.86979	0.491000	0.48974	CGA	ADCY7	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	G			50332831	+1	no_errors	ENST00000254235	ensembl	human	known	70_37	missense	SNP	1.000	A
ADCY8	114	genome.wustl.edu	37	8	131964194	131964194	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:131964194G>A	ENST00000286355.5	-	3	3253	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Silent_p.I387I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	387					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.I387I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCATGTCGTTGATCATTTCCA	0.522										HNSCC(32;0.087)																																							1	Substitution - coding silent(1)	cervix(1)											164.0	131.0	142.0					8																	131964194		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1161C>T	8.37:g.131964194G>A				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I387	ENST00000286355.5	37	c.1161	CCDS6363.1	8																																																																																			ADCY8	-	smart_A/G_cyclase		0.522	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	G			131964194	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	A
ADD3	120	genome.wustl.edu	37	10	111892229	111892229	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:111892229C>T	ENST00000356080.4	+	14	2195				ADD3_ENST00000360162.3_Intron|ADD3_ENST00000277900.8_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)							cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GTTTTGTTTTCACGTGAGGAA	0.353																																																	0																																										SO:0001627	intron_variant	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1828+71C>T	10.37:g.111892229C>T			D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	RNA	SNP	-	NULL	ENST00000356080.4	37	NULL	CCDS7561.1	10																																																																																			ADD3	-	-		0.353	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	C	NM_019903		111892229	+1	no_errors	ENST00000479805	ensembl	human	known	70_37	rna	SNP	0.001	T
ADH4	127	genome.wustl.edu	37	4	100047767	100047767	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:100047767C>G	ENST00000265512.7	-	8	1170	c.1096G>C	c.(1096-1098)Gac>Cac	p.D366H	ADH4_ENST00000423445.1_Missense_Mutation_p.D385H|ADH4_ENST00000508393.1_Missense_Mutation_p.D385H|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.D385H	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	366					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.D366H(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TTCATTAGGTCAAATGCCTCA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											142.0	140.0	141.0					4																	100047767		2203	4300	6503	SO:0001583	missense	127			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1096G>C	4.37:g.100047767C>G	ENSP00000265512:p.Asp366His		A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.D385H	ENST00000265512.7	37	c.1153	CCDS34032.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136098	0.77662	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590	T;T;T;T	0.03745	3.82;3.82;3.82;3.82	4.75	4.75	0.60458	GroES-like (1);	0.196190	0.32593	U	0.005894	T	0.08670	0.0215	L	0.50993	1.605	0.80722	D	1	B;P	0.52061	0.275;0.95	B;P	0.48677	0.095;0.586	T	0.09574	-1.0668	10	0.49607	T	0.09	-5.8502	17.9392	0.89022	0.0:1.0:0.0:0.0	.	385;366	P08319-2;P08319	.;ADH4_HUMAN	H	385;366;385;385	ENSP00000424630:D385H;ENSP00000265512:D366H;ENSP00000397939:D385H;ENSP00000425416:D385H	ENSP00000265512:D366H	D	-	1	0	ADH4	100266790	1.000000	0.71417	0.497000	0.27552	0.834000	0.47266	3.490000	0.53245	2.473000	0.83533	0.655000	0.94253	GAC	ADH4	-	superfamily_GroES-like,smart_PKS_ER		0.348	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH4	HGNC	protein_coding	OTTHUMT00000364220.2	C	NM_000670		100047767	-1	no_errors	ENST00000423445	ensembl	human	known	70_37	missense	SNP	1.000	G
ADNP2	22850	genome.wustl.edu	37	18	77895867	77895867	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:77895867G>A	ENST00000262198.4	+	4	3026	c.2571G>A	c.(2569-2571)gtG>gtA	p.V857V		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	857					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V857V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTGTGTATGTGAAGGTGAGGC	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											55.0	58.0	57.0					18																	77895867		2203	4300	6503	SO:0001819	synonymous_variant	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2571G>A	18.37:g.77895867G>A			A8K951|O94943|Q9H9P3	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.V857	ENST00000262198.4	37	c.2571	CCDS32853.1	18																																																																																			ADNP2	-	NULL		0.567	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	G	NM_014913		77895867	+1	no_errors	ENST00000262198	ensembl	human	known	70_37	silent	SNP	0.266	A
ADRA2A	150	genome.wustl.edu	37	10	112838144	112838144	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:112838144C>G	ENST00000280155.2	+	1	1355	c.390C>G	c.(388-390)ctC>ctG	p.L130L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	115					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.L115L(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGACGTGCTCTTCTGCACGT	0.622																																					Esophageal Squamous(173;605 2658 7278 49362)												1	Substitution - coding silent(1)	cervix(1)											97.0	78.0	84.0					10																	112838144		2203	4300	6503	SO:0001819	synonymous_variant	150			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.390C>G	10.37:g.112838144C>G			B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt	p.L130	ENST00000280155.2	37	c.390	CCDS7569.2	10																																																																																			ADRA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.622	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2	C	NM_000681		112838144	+1	no_errors	ENST00000280155	ensembl	human	known	70_37	silent	SNP	1.000	G
ADRA2A	150	genome.wustl.edu	37	10	112839032	112839032	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:112839032C>T	ENST00000280155.2	+	1	2243	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	411					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.F411F(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCAAATTCTTCTTCTGGTTCG	0.572																																					Esophageal Squamous(173;605 2658 7278 49362)												1	Substitution - coding silent(1)	cervix(1)											150.0	132.0	138.0					10																	112839032		2203	4300	6503	SO:0001819	synonymous_variant	150			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1278C>T	10.37:g.112839032C>T			B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt	p.F426	ENST00000280155.2	37	c.1278	CCDS7569.2	10																																																																																			ADRA2A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Musac_rcpt		0.572	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2	C	NM_000681		112839032	+1	no_errors	ENST00000280155	ensembl	human	known	70_37	silent	SNP	1.000	T
ADRBK1	156	genome.wustl.edu	37	11	67044812	67044812	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:67044812G>A	ENST00000308595.5	+	2	473	c.183G>A	c.(181-183)caG>caA	p.Q61Q	ADRBK1_ENST00000526285.1_Silent_p.Q61Q	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	61	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.Q61Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCTTTTCCCAGAAGCTGGGTG	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											91.0	85.0	87.0					11																	67044812		2200	4295	6495	SO:0001819	synonymous_variant	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.183G>A	11.37:g.67044812G>A			B0ZBE1|Q13837|Q6GTT3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.Q61	ENST00000308595.5	37	c.183	CCDS8156.1	11																																																																																			ADRBK1	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.592	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	G	NM_001619		67044812	+1	no_errors	ENST00000308595	ensembl	human	known	70_37	silent	SNP	1.000	A
ADRM1	11047	genome.wustl.edu	37	20	60881738	60881738	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:60881738G>A	ENST00000253003.2	+	5	535	c.489G>A	c.(487-489)atG>atA	p.M163I	RP11-157P1.4_ENST00000414042.1_RNA|LAMA5_ENST00000492698.1_5'Flank|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	163	Gly-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)	p.M163I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TGGGAAACATGAGCCACAGCC	0.667																																																	1	Substitution - Missense(1)	cervix(1)											26.0	28.0	27.0					20																	60881738		2197	4293	6490	SO:0001583	missense	11047			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.489G>A	20.37:g.60881738G>A	ENSP00000253003:p.Met163Ile		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	pfam_26S_Psome_Ubiquitin-recp_Rpn13	p.M163I	ENST00000253003.2	37	c.489	CCDS13496.1	20	.	.	.	.	.	.	.	.	.	.	g	21.9	4.223113	0.79464	.	.	ENSG00000130706	ENST00000253003	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.72479	2.2	0.80722	D	1	B	0.15473	0.013	B	0.13407	0.009	T	0.67647	-0.5617	9	0.54805	T	0.06	-16.4537	17.5498	0.87872	0.0:0.0:1.0:0.0	.	163	Q16186	ADRM1_HUMAN	I	163	.	ENSP00000253003:M163I	M	+	3	0	ADRM1	60315133	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.382000	0.79729	2.240000	0.73641	0.651000	0.88453	ATG	ADRM1	-	pfam_26S_Psome_Ubiquitin-recp_Rpn13		0.667	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRM1	HGNC	protein_coding	OTTHUMT00000080007.1	G			60881738	+1	no_errors	ENST00000253003	ensembl	human	known	70_37	missense	SNP	1.000	A
AFF1	4299	genome.wustl.edu	37	4	88047478	88047478	+	Missense_Mutation	SNP	C	C	T	rs140882176		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:88047478C>T	ENST00000307808.6	+	13	3200	c.2780C>T	c.(2779-2781)tCg>tTg	p.S927L	AFF1_ENST00000395146.4_Missense_Mutation_p.S934L|AFF1_ENST00000544085.1_Missense_Mutation_p.S565L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	927					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S934L(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGAAGCTCCTCGGAGCACAAG	0.532																																																	1	Substitution - Missense(1)	cervix(1)						C	LEU/SER,LEU/SER	0,4406		0,0,2203	50.0	52.0	51.0		2780,2801	4.6	0.0	4	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AFF1	NM_005935.2,NM_001166693.1	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	927/1211,934/1219	88047478	1,13005	2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2780C>T	4.37:g.88047478C>T	ENSP00000305689:p.Ser927Leu		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S934L	ENST00000307808.6	37	c.2801	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079895	0.36662	0.0	1.16E-4	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.64438	-0.1;-0.1;-0.1	5.43	4.58	0.56647	.	0.899012	0.09531	N	0.789515	T	0.50309	0.1608	L	0.36672	1.1	0.09310	N	1	B;B;B	0.27997	0.197;0.197;0.197	B;B;B	0.19946	0.027;0.027;0.027	T	0.42103	-0.9471	10	0.48119	T	0.1	0.1858	7.4799	0.27398	0.2036:0.7122:0.0:0.0842	.	934;927;927	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	L	934;927;565	ENSP00000378578:S934L;ENSP00000305689:S927L;ENSP00000440843:S565L	ENSP00000305689:S927L	S	+	2	0	AFF1	88266502	0.003000	0.15002	0.005000	0.12908	0.007000	0.05969	1.726000	0.38085	1.265000	0.44215	0.650000	0.86243	TCG	AFF1	-	pfam_TF_AF4/FMR2		0.532	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	C	NM_005935		88047478	+1	no_errors	ENST00000395146	ensembl	human	known	70_37	missense	SNP	0.002	T
AGAP2	116986	genome.wustl.edu	37	12	58121321	58121321	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:58121321C>G	ENST00000547588.1	-	17	2901	c.2902G>C	c.(2902-2904)Gag>Cag	p.E968Q	AGAP2_ENST00000257897.3_Missense_Mutation_p.E612Q|AGAP2-AS1_ENST00000542466.2_Silent_p.L182L|RP11-571M6.8_ENST00000548410.2_RNA	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	968	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.E612Q(1)|p.E968Q(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCAGAACACTCGATGCAGATG	0.677																																																	2	Substitution - Missense(2)	cervix(2)											76.0	71.0	72.0					12																	58121321		2203	4300	6503	SO:0001583	missense	116986			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2902G>C	12.37:g.58121321C>G	ENSP00000449241:p.Glu968Gln		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,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.E968Q	ENST00000547588.1	37	c.2902	CCDS44932.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.699548|4.699548	0.88830|0.88830	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588|ENST00000328568	T;T|.	0.46451|.	0.87;0.87|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72534|0.72534	0.3472|0.3472	L|L	0.61387|0.61387	1.9|1.9	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.986;0.989|.	D;P;D|.	0.97110|.	1.0;0.803;0.915|.	T|T	0.71321|0.71321	-0.4628|-0.4628	10|5	0.62326|.	D|.	0.03|.	.|.	17.4429|17.4429	0.87570|0.87570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	612;968;968|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	Q|P	612;968|811	ENSP00000257897:E612Q;ENSP00000449241:E968Q|.	ENSP00000257897:E612Q|.	E|R	-|-	1|2	0|0	AGAP2|AGAP2	56407588|56407588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.796000|7.796000	0.85898|0.85898	2.480000|2.480000	0.83734|0.83734	0.655000|0.655000	0.94253|0.94253	GAG|CGA	AGAP2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.677	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	HGNC	protein_coding	OTTHUMT00000408367.1	C	NM_014770		58121321	-1	no_errors	ENST00000547588	ensembl	human	known	70_37	missense	SNP	1.000	G
AGTPBP1	23287	genome.wustl.edu	37	9	88203305	88203305	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:88203305G>C	ENST00000357081.3	-	21	2955	c.2811C>G	c.(2809-2811)ctC>ctG	p.L937L	AGTPBP1_ENST00000376083.3_Silent_p.L897L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.L949L|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	937					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)	p.L897L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TATTGCTCATGAGATATTCCA	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											124.0	106.0	112.0					9																	88203305		2203	4300	6503	SO:0001819	synonymous_variant	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.2811C>G	9.37:g.88203305G>C			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.L949	ENST00000357081.3	37	c.2847		9																																																																																			AGTPBP1	-	pfam_Peptidase_M14		0.388	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	G	NM_015239		88203305	-1	no_errors	ENST00000376109	ensembl	human	known	70_37	silent	SNP	1.000	C
AHCTF1	25909	genome.wustl.edu	37	1	247024261	247024261	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:247024261C>G	ENST00000391829.2	-	29	4195	c.4072G>C	c.(4072-4074)Gat>Cat	p.D1358H	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D1367H|AHCTF1_ENST00000366508.1_Missense_Mutation_p.D1393H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1358	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1358H(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTATCTCCATCCTTTTCAGTT	0.388																																					Colon(145;197 1800 4745 15099 26333)												1	Substitution - Missense(1)	cervix(1)											55.0	57.0	56.0					1																	247024261		2201	4297	6498	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4072G>C	1.37:g.247024261C>G	ENSP00000375705:p.Asp1358His		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.D1367H	ENST00000391829.2	37	c.4099		1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850787	0.32699	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.40225	1.04;1.05;1.05	5.8	3.93	0.45458	.	0.558298	0.18214	N	0.148093	T	0.55242	0.1908	L	0.59436	1.845	0.20489	N	0.999895	D;D;D	0.71674	0.997;0.998;0.99	D;P;P	0.63192	0.912;0.891;0.688	T	0.46331	-0.9199	10	0.62326	D	0.03	-3.6035	10.2694	0.43475	0.0:0.7881:0.0:0.2119	.	219;1393;1358	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	H	1393;1367;1358	ENSP00000355464:D1393H;ENSP00000355465:D1367H;ENSP00000375705:D1358H	ENSP00000355465:D1367H	D	-	1	0	AHCTF1	245090884	0.006000	0.16342	0.442000	0.26870	0.013000	0.08279	0.755000	0.26405	0.913000	0.36797	0.650000	0.86243	GAT	AHCTF1	-	NULL		0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446		247024261	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	0.379	G
AHCTF1	25909	genome.wustl.edu	37	1	247063499	247063499	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:247063499C>G	ENST00000391829.2	-	10	1423	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	AHCTF1_ENST00000470300.1_5'Flank|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E443Q|AHCTF1_ENST00000366508.1_Missense_Mutation_p.E469Q			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	434	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E434Q(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACAACAGACTCCAATGACCAC	0.373																																					Colon(145;197 1800 4745 15099 26333)												1	Substitution - Missense(1)	cervix(1)											72.0	79.0	76.0					1																	247063499		2198	4295	6493	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1300G>C	1.37:g.247063499C>G	ENSP00000375705:p.Glu434Gln		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E443Q	ENST00000391829.2	37	c.1327		1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923252	0.33908	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32753	1.44;1.44;1.44	4.86	4.86	0.63082	.	0.270733	0.40728	N	0.001022	T	0.27697	0.0681	N	0.19112	0.55	0.37484	D	0.91612	P;P	0.46656	0.882;0.722	P;B	0.44359	0.447;0.329	T	0.26985	-1.0087	10	0.62326	D	0.03	-5.7822	18.337	0.90291	0.0:1.0:0.0:0.0	.	469;434	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	Q	469;443;434	ENSP00000355464:E469Q;ENSP00000355465:E443Q;ENSP00000375705:E434Q	ENSP00000355465:E443Q	E	-	1	0	AHCTF1	245130122	1.000000	0.71417	0.993000	0.49108	0.026000	0.11368	7.445000	0.80570	2.386000	0.81285	0.455000	0.32223	GAG	AHCTF1	-	NULL		0.373	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446		247063499	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	1.000	G
AHNAK2	113146	genome.wustl.edu	37	14	105410048	105410048	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:105410048C>G	ENST00000333244.5	-	7	11859	c.11740G>C	c.(11740-11742)Gac>Cac	p.D3914H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3914						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D3914H(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTTTAGGTCCAGCTTGGGG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											145.0	151.0	149.0					14																	105410048		1895	4106	6001	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11740G>C	14.37:g.105410048C>G	ENSP00000353114:p.Asp3914His		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D3914H	ENST00000333244.5	37	c.11740	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	10.05	1.244770	0.22796	.	.	ENSG00000185567	ENST00000333244	T	0.02236	4.38	3.72	3.72	0.42706	.	0.761386	0.09922	U	0.738352	T	0.11410	0.0278	M	0.77103	2.36	0.22918	N	0.998565	D	0.76494	0.999	D	0.79784	0.993	T	0.13150	-1.0520	10	0.66056	D	0.02	.	8.2651	0.31808	0.0:0.8121:0.0:0.1879	.	3914	Q8IVF2	AHNK2_HUMAN	H	3914	ENSP00000353114:D3914H	ENSP00000353114:D3914H	D	-	1	0	AHNAK2	104481093	0.000000	0.05858	0.661000	0.29709	0.094000	0.18550	0.160000	0.16462	1.929000	0.55896	0.313000	0.20887	GAC	AHNAK2	-	NULL		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105410048	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.639	G
AIFM3	150209	genome.wustl.edu	37	22	21333933	21333933	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:21333933G>A	ENST00000399167.2	+	18	1834	c.1594G>A	c.(1594-1596)Gac>Aac	p.D532N	AIFM3_ENST00000440238.2_Missense_Mutation_p.D532N|AIFM3_ENST00000399163.2_Missense_Mutation_p.D532N|AIFM3_ENST00000465606.1_3'UTR|XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000389355.3_5'Flank|AIFM3_ENST00000333607.6_Missense_Mutation_p.D532N|AIFM3_ENST00000405089.1_Missense_Mutation_p.D538N|AIFM3_ENST00000335375.5_Missense_Mutation_p.D520N|LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000215739.8_5'Flank	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	532					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.D532N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGAAGGCTTCGACGACGTCAT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											107.0	115.0	113.0					22																	21333933		2203	4300	6503	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1594G>A	22.37:g.21333933G>A	ENSP00000382120:p.Asp532Asn		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2	p.D532N	ENST00000399167.2	37	c.1594	CCDS13786.1	22	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499852	0.85176	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.27	2.13	0.27403	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;P;D;D;P	0.67382	0.943;0.848;0.951;0.951;0.895	T	0.64618	-0.6365	10	0.54805	T	0.06	-5.5335	7.7013	0.28625	0.0941:0.1656:0.7403:0.0	.	520;520;538;532;532	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	N	532;532;538;520;532;532	ENSP00000382120:D532N;ENSP00000382116:D532N;ENSP00000385800:D538N;ENSP00000335369:D520N;ENSP00000390798:D532N;ENSP00000327671:D532N	ENSP00000327671:D532N	D	+	1	0	AIFM3	19663933	0.967000	0.33354	0.992000	0.48379	0.993000	0.82548	3.159000	0.50731	0.544000	0.28883	0.561000	0.74099	GAC	AIFM3	-	superfamily_FAD/NAD-linked_Rdtase_dimer		0.637	AIFM3-002	KNOWN	basic|CCDS	protein_coding	AIFM3	HGNC	protein_coding	OTTHUMT00000320150.1	G	NM_144704		21333933	+1	no_errors	ENST00000399167	ensembl	human	known	70_37	missense	SNP	1.000	A
AIM1	202	genome.wustl.edu	37	6	106960255	106960255	+	Silent	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:106960255G>T	ENST00000369066.3	+	1	526	c.39G>T	c.(37-39)cgG>cgT	p.R13R		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R13R(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CGGGGAGGCGGAGGGGGTCGC	0.672																																																	1	Substitution - coding silent(1)	cervix(1)											16.0	19.0	18.0					6																	106960255		2191	4262	6453	SO:0001819	synonymous_variant	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.39G>T	6.37:g.106960255G>T			Q6P2P0|Q9BTM3	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.R13	ENST00000369066.3	37	c.39	CCDS34506.1	6																																																																																			AIM1	-	NULL		0.672	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	G			106960255	+1	no_errors	ENST00000369066	ensembl	human	known	70_37	silent	SNP	1.000	T
AKAP6	9472	genome.wustl.edu	37	14	33015502	33015502	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:33015502C>G	ENST00000280979.4	+	4	1813	c.1643C>G	c.(1642-1644)tCt>tGt	p.S548C	AKAP6_ENST00000557272.1_Missense_Mutation_p.S548C|AKAP6_ENST00000557354.1_Missense_Mutation_p.S548C	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	548					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.S548C(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAAACAAATTCTGCTTCCACA	0.438																																					Melanoma(49;821 1200 7288 13647 42351)												1	Substitution - Missense(1)	cervix(1)											72.0	76.0	74.0					14																	33015502		2203	4300	6503	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1643C>G	14.37:g.33015502C>G	ENSP00000280979:p.Ser548Cys		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.S548C	ENST00000280979.4	37	c.1643	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054614	0.55218	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	6.11	5.22	0.72569	.	0.346153	0.29410	N	0.012228	T	0.65004	0.2650	L	0.60455	1.87	0.43141	D	0.994894	D;D	0.71674	0.997;0.998	P;P	0.60173	0.817;0.87	T	0.69146	-0.5222	10	0.87932	D	0	-3.1365	13.1801	0.59649	0.0:0.9264:0.0:0.0736	.	548;548	A7E242;Q13023	.;AKAP6_HUMAN	C	548;548;548;306	ENSP00000280979:S548C;ENSP00000450531:S548C;ENSP00000451247:S548C;ENSP00000451239:S306C	ENSP00000280979:S548C	S	+	2	0	AKAP6	32085253	1.000000	0.71417	0.967000	0.41034	0.767000	0.43475	2.887000	0.48586	1.600000	0.50102	0.655000	0.94253	TCT	AKAP6	-	NULL		0.438	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	C	NM_004274		33015502	+1	no_errors	ENST00000280979	ensembl	human	known	70_37	missense	SNP	0.998	G
AKAP8	10270	genome.wustl.edu	37	19	15465808	15465808	+	Missense_Mutation	SNP	C	C	G	rs369631726		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:15465808C>G	ENST00000269701.2	-	14	2057	c.1997G>C	c.(1996-1998)aGa>aCa	p.R666T		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	666					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R666T(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGGAGCAACTCTGGTTTGGGC	0.567																																					GBM(190;1671 2163 3274 27186 30476)												1	Substitution - Missense(1)	cervix(1)											90.0	81.0	84.0					19																	15465808		2203	4300	6503	SO:0001583	missense	10270			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1997G>C	19.37:g.15465808C>G	ENSP00000269701:p.Arg666Thr			Missense_Mutation	SNP	pfam_AKAP95	p.R666T	ENST00000269701.2	37	c.1997	CCDS12329.1	19	.	.	.	.	.	.	.	.	.	.	C	3.464	-0.109409	0.06924	.	.	ENSG00000105127	ENST00000269701	T	0.41758	0.99	5.1	-10.2	0.00374	.	13.524300	0.00644	N	0.000535	T	0.20007	0.0481	N	0.14661	0.345	0.09310	N	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.09015	-1.0694	10	0.18710	T	0.47	-0.1982	5.7388	0.18081	0.1448:0.4015:0.3646:0.0891	.	666	O43823	AKAP8_HUMAN	T	666	ENSP00000269701:R666T	ENSP00000269701:R666T	R	-	2	0	AKAP8	15326808	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.639000	0.00865	-2.794000	0.00355	-0.867000	0.03001	AGA	AKAP8	-	NULL		0.567	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8	HGNC	protein_coding	OTTHUMT00000461293.3	C	NM_005858		15465808	-1	no_errors	ENST00000269701	ensembl	human	known	70_37	missense	SNP	0.000	G
AKNA	80709	genome.wustl.edu	37	9	117104310	117104310	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:117104310C>T	ENST00000307564.4	-	20	4014	c.3853G>A	c.(3853-3855)Ggt>Agt	p.G1285S	AKNA_ENST00000374075.5_Missense_Mutation_p.G1204S|AKNA_ENST00000223791.3_Missense_Mutation_p.G745S|AKNA_ENST00000374079.4_Missense_Mutation_p.G230S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.G1285S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1285					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)	p.G1285S(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GAGCCTGGACCATCTGCCTCT	0.567																																																	1	Substitution - Missense(1)	cervix(1)											85.0	82.0	83.0					9																	117104310		2203	4300	6503	SO:0001583	missense	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.3853G>A	9.37:g.117104310C>T	ENSP00000303769:p.Gly1285Ser		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.G1285S	ENST00000307564.4	37	c.3853	CCDS6805.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.46|11.46	1.645534|1.645534	0.29246|0.29246	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075|ENST00000320310	T;T;T;T;T|.	0.19532|.	2.67;2.14;2.67;2.45;2.66|.	4.95|4.95	-1.09|-1.09	0.09904|0.09904	.|.	0.779422|.	0.11613|.	N|.	0.546503|.	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;B|.	0.14805|.	0.006;0.011|.	B;B|.	0.17722|.	0.008;0.019|.	T|T	0.38394|0.38394	-0.9663|-0.9663	10|6	0.28530|0.49607	T|T	0.3|0.09	-3.529|-3.529	4.3522|4.3522	0.11160|0.11160	0.0:0.3529:0.1736:0.4735|0.0:0.3529:0.1736:0.4735	.|.	1285;1204|.	Q7Z591;Q7Z591-2|.	AKNA_HUMAN;.|.	S|I	1285;230;1285;745;1204|295	ENSP00000303769:G1285S;ENSP00000363192:G230S;ENSP00000363201:G1285S;ENSP00000223791:G745S;ENSP00000363188:G1204S|.	ENSP00000223791:G745S|ENSP00000314538:M295I	G|M	-|-	1|3	0|0	AKNA|AKNA	116144131|116144131	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.775000|-0.775000	0.04679|0.04679	-0.016000|-0.016000	0.14127|0.14127	0.563000|0.563000	0.77884|0.77884	GGT|ATG	AKNA	-	NULL		0.567	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117104310	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	missense	SNP	0.000	T
AKT2	208	genome.wustl.edu	37	19	40771139	40771139	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:40771139G>A	ENST00000392038.2	-	2	334	c.36C>T	c.(34-36)ctC>ctT	p.L12L	AKT2_ENST00000424901.1_Silent_p.L12L|AKT2_ENST00000311278.6_Silent_p.L12L|AKT2_ENST00000579047.1_Intron	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	12	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.L12L(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CACGCTTGTGGAGCCAGCCTT	0.602			A		"""ovarian, pancreatic """																																			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	1	Substitution - coding silent(1)	cervix(1)											81.0	64.0	70.0					19																	40771139		2203	4300	6503	SO:0001819	synonymous_variant	208			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.36C>T	19.37:g.40771139G>A			B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.L12	ENST00000392038.2	37	c.36	CCDS12552.1	19	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317399	0.23908	.	.	ENSG00000105221	ENST00000358335	.	.	.	5.16	-6.36	0.01969	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68622	-0.5360	5	0.87932	D	0	.	8.7455	0.34583	0.3475:0.4986:0.1539:0.0	.	.	.	.	F	11	.	ENSP00000351095:S11F	S	-	2	0	AKT2	45462979	0.994000	0.37717	0.973000	0.42090	0.978000	0.69477	0.138000	0.16016	-0.535000	0.06307	-0.291000	0.09656	TCC	AKT2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.602	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT2	HGNC	protein_coding	OTTHUMT00000268029.1	G	NM_001626		40771139	-1	no_errors	ENST00000392038	ensembl	human	known	70_37	silent	SNP	0.911	A
AKT3	10000	genome.wustl.edu	37	1	243708851	243708851	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:243708851G>C	ENST00000366539.1	-	12	1412	c.1212C>G	c.(1210-1212)ttC>ttG	p.F404L	AKT3_ENST00000263826.5_Missense_Mutation_p.F404L|RP11-269F20.1_ENST00000439849.1_RNA|AKT3_ENST00000366540.1_Missense_Mutation_p.F404L|AKT3_ENST00000336199.5_Missense_Mutation_p.F404L			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	404	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F404L(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTCCAGAGAAGAAACTGTGTC	0.318																																																	3	Substitution - Missense(3)	cervix(3)											109.0	107.0	108.0					1																	243708851		2203	4298	6501	SO:0001583	missense	10000			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.1212C>G	1.37:g.243708851G>C	ENSP00000355497:p.Phe404Leu		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.F404L	ENST00000366539.1	37	c.1212	CCDS31077.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298413	0.81025	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.65	2.73	0.32206	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	0.79251	0.4414	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.79019	-0.1974	10	0.87932	D	0	.	11.244	0.48985	0.1928:0.0:0.8072:0.0	.	404;404	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	L	404	ENSP00000336943:F404L;ENSP00000355498:F404L;ENSP00000355497:F404L;ENSP00000263826:F404L	ENSP00000263826:F404L	F	-	3	2	AKT3	241775474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.896000	0.48656	0.315000	0.23110	0.650000	0.86243	TTC	AKT3	-	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		0.318	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1	G	NM_181690		243708851	-1	no_errors	ENST00000263826	ensembl	human	known	70_37	missense	SNP	1.000	C
ALDH1A2	8854	genome.wustl.edu	37	15	58357776	58357776	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:58357776G>C	ENST00000249750.4	-	1	840	c.73C>G	c.(73-75)Ctc>Gtc	p.L25V	CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000558231.1_Intron|ALDH1A2_ENST00000537372.1_5'UTR|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.L25V	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	25					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.L25V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GACGGCAGGAGGTGCAGCGAC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											36.0	38.0	37.0					15																	58357776		2192	4292	6484	SO:0001583	missense	8854			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.73C>G	15.37:g.58357776G>C	ENSP00000249750:p.Leu25Val		B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.L25V	ENST00000249750.4	37	c.73	CCDS10163.1	15	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278217	0.59758	.	.	ENSG00000128918	ENST00000249750;ENST00000347587	T;T	0.75260	-0.92;-0.89	3.71	3.71	0.42584	Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000001	T	0.60170	0.2248	N	0.19112	0.55	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.57837	-0.7742	10	0.36615	T	0.2	.	14.7194	0.69294	0.0:0.0:1.0:0.0	.	25;25	O94788-2;O94788	.;AL1A2_HUMAN	V	25	ENSP00000249750:L25V;ENSP00000309623:L25V	ENSP00000249750:L25V	L	-	1	0	ALDH1A2	56145068	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	8.524000	0.90579	1.942000	0.56320	0.558000	0.71614	CTC	ALDH1A2	-	superfamily_Ald_DH/histidinol_DH		0.647	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	HGNC	protein_coding	OTTHUMT00000255869.1	G			58357776	-1	no_errors	ENST00000249750	ensembl	human	known	70_37	missense	SNP	1.000	C
ALDH4A1	8659	genome.wustl.edu	37	1	19203721	19203721	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:19203721G>C	ENST00000375341.3	-	11	1423	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.S329C|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.S389C|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.S389C	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	389					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.S389C(2)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AATCACTGCAGAGAAGAAGGT	0.617																																																	2	Substitution - Missense(2)	cervix(2)											59.0	50.0	53.0					1																	19203721		2203	4300	6503	SO:0001583	missense	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1166C>G	1.37:g.19203721G>C	ENSP00000364490:p.Ser389Cys		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.S389C	ENST00000375341.3	37	c.1166	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066785	0.76301	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.46	4.46	0.54185	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.322809	0.34110	N	0.004257	D	0.88104	0.6347	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90135	0.4209	10	0.87932	D	0	-17.5601	16.036	0.80628	0.0:0.0:1.0:0.0	.	389	P30038	AL4A1_HUMAN	C	389;389;389;329	ENSP00000290597:S389C;ENSP00000364490:S389C;ENSP00000446071:S389C;ENSP00000442988:S329C	ENSP00000290597:S389C	S	-	2	0	ALDH4A1	19076308	1.000000	0.71417	0.929000	0.37066	0.905000	0.53344	7.072000	0.76777	2.201000	0.70794	0.655000	0.94253	TCT	ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH		0.617	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	G			19203721	-1	no_errors	ENST00000290597	ensembl	human	known	70_37	missense	SNP	0.999	C
ALDH8A1	64577	genome.wustl.edu	37	6	135239582	135239582	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:135239582C>T	ENST00000265605.2	-	7	1503	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.E429K|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.E425K	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	479					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.E479K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTTTTGATCTCAGTGAAGAAG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											126.0	126.0	126.0					6																	135239582		2203	4300	6503	SO:0001583	missense	64577			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1435G>A	6.37:g.135239582C>T	ENSP00000265605:p.Glu479Lys		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.E479K	ENST00000265605.2	37	c.1435	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.729543	0.96856	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.31769	1.48;1.48;1.48	6.06	6.06	0.98353	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.69523	2.12	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.996	D;D;D	0.73708	0.981;0.948;0.969	T	0.51204	-0.8735	10	0.87932	D	0	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	429;425;479	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	K	479;425;429	ENSP00000265605:E479K;ENSP00000356819:E425K;ENSP00000356821:E429K	ENSP00000265605:E479K	E	-	1	0	ALDH8A1	135281275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.710000	0.84655	2.879000	0.98667	0.650000	0.86243	GAG	ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.493	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	C			135239582	-1	no_errors	ENST00000265605	ensembl	human	known	70_37	missense	SNP	1.000	T
ALG1	56052	genome.wustl.edu	37	16	5134874	5134874	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:5134874G>A	ENST00000262374.5	+	13	1418	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	ALG1_ENST00000544428.1_Missense_Mutation_p.D352N|FAM86A_ENST00000427587.4_3'UTR|ALG1_ENST00000588623.1_Missense_Mutation_p.D352N|FAM86A_ENST00000458008.4_3'UTR	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	463					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.D463N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TTTGGTTATGGACACATAACT	0.587																																																	1	Substitution - Missense(1)	cervix(1)											25.0	30.0	28.0					16																	5134874		1351	2304	3655	SO:0001583	missense	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.1387G>A	16.37:g.5134874G>A	ENSP00000262374:p.Asp463Asn		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.D463N	ENST00000262374.5	37	c.1387	CCDS10528.1	16	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998277	0.35226	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	T;T	0.77750	-1.1;-1.12	4.52	2.26	0.28386	.	0.809600	0.11422	N	0.565675	T	0.66066	0.2752	L	0.36672	1.1	0.47123	D	0.999322	P;P	0.38922	0.501;0.651	B;B	0.30401	0.058;0.115	T	0.61850	-0.6978	10	0.29301	T	0.29	-9.6807	14.5689	0.68200	0.0:0.3717:0.6283:0.0	.	352;463	B4DP08;Q9BT22	.;ALG1_HUMAN	N	463;352	ENSP00000262374:D463N;ENSP00000440019:D352N	ENSP00000262374:D463N	D	+	1	0	ALG1	5074875	0.939000	0.31865	0.148000	0.22405	0.042000	0.13812	1.376000	0.34306	0.988000	0.38734	0.455000	0.32223	GAC	ALG1	-	NULL		0.587	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2	G	NM_019109		5134874	+1	no_errors	ENST00000262374	ensembl	human	known	70_37	missense	SNP	0.264	A
ALOX5	240	genome.wustl.edu	37	10	45924146	45924146	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:45924146C>T	ENST00000374391.2	+	7	968	c.915C>T	c.(913-915)ttC>ttT	p.F305F	ALOX5_ENST00000542434.1_Silent_p.F305F	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	305	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.F305F(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CACTCCAGTTCCTGGCCGCTC	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											118.0	103.0	108.0					10																	45924146		2203	4300	6503	SO:0001819	synonymous_variant	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.915C>T	10.37:g.45924146C>T			B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.F305	ENST00000374391.2	37	c.915	CCDS7212.1	10																																																																																			ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml		0.552	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	C			45924146	+1	no_errors	ENST00000374391	ensembl	human	known	70_37	silent	SNP	1.000	T
ALS2CL	259173	genome.wustl.edu	37	3	46722599	46722599	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:46722599G>C	ENST00000318962.4	-	13	1520				ALS2CL_ENST00000415953.1_Intron	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like						endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGCAGCAACCGAGGGACTGGA	0.622																																																	0																																										SO:0001627	intron_variant	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1436+136C>G	3.37:g.46722599G>C			Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	pfam_MORN,superfamily_DH-domain,smart_MORN	p.L516	ENST00000318962.4	37	c.1548	CCDS2743.1	3																																																																																			ALS2CL	-	NULL		0.622	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	G	NM_147129		46722599	-1	no_errors	ENST00000431015	ensembl	human	known	70_37	silent	SNP	0.000	C
CARF	79800	genome.wustl.edu	37	2	203826051	203826051	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:203826051G>C	ENST00000402905.3	+	8	1055	c.734G>C	c.(733-735)tGg>tCg	p.W245S	CARF_ENST00000545253.1_Missense_Mutation_p.W157S|WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_Intron|CARF_ENST00000471271.1_Intron|CARF_ENST00000320443.8_Missense_Mutation_p.W245S|CARF_ENST00000414439.1_Missense_Mutation_p.W143S|CARF_ENST00000545262.1_Missense_Mutation_p.W169S|CARF_ENST00000444724.1_Missense_Mutation_p.W245S|CARF_ENST00000428585.1_Missense_Mutation_p.W169S|CARF_ENST00000434998.1_Missense_Mutation_p.W143S|CARF_ENST00000438828.2_Missense_Mutation_p.W245S	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	245					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)	p.W245S(1)									CAGAGTGTTTGGGGGACCCGT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											72.0	72.0	72.0					2																	203826051		1907	4118	6025	SO:0001583	missense	79800			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.734G>C	2.37:g.203826051G>C	ENSP00000384006:p.Trp245Ser		B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	NULL	p.W245S	ENST00000402905.3	37	c.734	CCDS42801.1	2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947079	0.53186	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.31	5.31	0.75309	.	0.172031	0.41396	D	0.000894	T	0.67832	0.2935	L	0.34521	1.04	0.58432	D	0.999999	P;P;P;D	0.89917	0.58;0.58;0.58;1.0	B;B;B;D	0.79108	0.344;0.344;0.344;0.992	T	0.69499	-0.5129	9	0.54805	T	0.06	-3.9898	17.9649	0.89097	0.0:0.0:1.0:0.0	.	157;169;245;245	B4DIA7;G3V1K7;Q8N187;F6SXV3	.;.;AL2S8_HUMAN;.	S	245;245;143;169;157;169;143;245;245	.	ENSP00000316224:W245S	W	+	2	0	ALS2CR8	203534296	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.473000	0.66774	2.477000	0.83638	0.563000	0.77884	TGG	ALS2CR8	-	NULL		0.458	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CR8	HGNC	protein_coding	OTTHUMT00000335768.5	G	NM_001104586		203826051	+1	no_errors	ENST00000320443	ensembl	human	known	70_37	missense	SNP	1.000	C
AMDHD1	144193	genome.wustl.edu	37	12	96354389	96354389	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:96354389G>A	ENST00000266736.2	+	5	907	c.801G>A	c.(799-801)atG>atA	p.M267I		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	267					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)	p.M267I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCCACCCGATGAAGGCTGCTG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											86.0	85.0	85.0					12																	96354389		2203	4300	6503	SO:0001583	missense	144193			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.801G>A	12.37:g.96354389G>A	ENSP00000266736:p.Met267Ile		A8K463|Q68CI8	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	p.M267I	ENST00000266736.2	37	c.801	CCDS9057.1	12	.	.	.	.	.	.	.	.	.	.	G	6.751	0.507430	0.12883	.	.	ENSG00000139344	ENST00000266736	T	0.38560	1.13	5.55	4.66	0.58398	Metal-dependent hydrolase, composite domain (1);	0.065910	0.85682	D	0.000000	T	0.27454	0.0674	N	0.11789	0.175	0.58432	D	0.999999	B	0.06786	0.001	B	0.12837	0.008	T	0.03795	-1.1003	10	0.35671	T	0.21	-3.735	14.9157	0.70795	0.0692:0.0:0.9308:0.0	.	267	Q96NU7	HUTI_HUMAN	I	267	ENSP00000266736:M267I	ENSP00000266736:M267I	M	+	3	0	AMDHD1	94878520	1.000000	0.71417	0.995000	0.50966	0.017000	0.09413	7.115000	0.77110	1.472000	0.48140	0.655000	0.94253	ATG	AMDHD1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI		0.418	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD1	HGNC	protein_coding	OTTHUMT00000408640.1	G	NM_152435		96354389	+1	no_errors	ENST00000266736	ensembl	human	known	70_37	missense	SNP	1.000	A
AMT	275	genome.wustl.edu	37	3	49454675	49454675	+	3'UTR	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49454675G>C	ENST00000273588.3	-	0	1812				AMT_ENST00000476226.1_5'UTR|AMT_ENST00000458307.2_3'UTR|AMT_ENST00000538581.1_3'UTR|AMT_ENST00000395338.2_3'UTR	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase						glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	GGCAGAGTGGGAGAGATGGCA	0.517																																																	0																																										SO:0001624	3_prime_UTR_variant	275			D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.*298C>G	3.37:g.49454675G>C			A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	RNA	SNP	-	NULL	ENST00000273588.3	37	NULL	CCDS2797.1	3																																																																																			AMT	-	-		0.517	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMT	HGNC	protein_coding	OTTHUMT00000346216.2	G	NM_000481		49454675	-1	no_errors	ENST00000476226	ensembl	human	known	70_37	rna	SNP	0.000	C
AMY2B	280	genome.wustl.edu	37	1	104114233	104114233	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:104114233C>G	ENST00000361355.4	+	3	625	c.9C>G	c.(7-9)ttC>ttG	p.F3L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	3					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AAATGAAGTTCTTTCTGTTGC	0.368																																																	0													35.0	34.0	34.0					1																	104114233		2179	4270	6449	SO:0001583	missense	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.9C>G	1.37:g.104114233C>G	ENSP00000354610:p.Phe3Leu		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.F3L	ENST00000361355.4	37	c.9	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	C	0.555	-0.847588	0.02651	.	.	ENSG00000240038	ENST00000361355;ENST00000435302;ENST00000453959	.	.	.	4.45	3.46	0.39613	.	0.497156	0.22929	N	0.053928	T	0.06234	0.0161	N	0.04297	-0.235	0.27243	N	0.959084	B	0.02656	0.0	B	0.04013	0.001	T	0.28713	-1.0035	9	0.02654	T	1	.	12.623	0.56614	0.0:0.6902:0.3098:0.0	.	3	P19961	AMY2B_HUMAN	L	3	.	ENSP00000354610:F3L	F	+	3	2	AMY2B	103915756	0.007000	0.16637	0.969000	0.41365	0.564000	0.35744	0.180000	0.16860	2.024000	0.59613	0.585000	0.79938	TTC	AMY2B	-	NULL		0.368	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	C	NM_020978		104114233	+1	no_errors	ENST00000361355	ensembl	human	known	70_37	missense	SNP	0.918	G
ANAPC1	64682	genome.wustl.edu	37	2	112608391	112608391	+	Missense_Mutation	SNP	G	G	C	rs148969655	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:112608391G>C	ENST00000341068.3	-	14	2384	c.1612C>G	c.(1612-1614)Cca>Gca	p.P538A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	538					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 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)		p.P538A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGAGGCTTTGGAGTACTAACG	0.433																																																	1	Substitution - Missense(1)	cervix(1)						G	ALA/PRO	5,4401	8.1+/-20.4	0,5,2198	104.0	102.0	103.0		1612	3.7	0.3	2	dbSNP_134	103	0,8600		0,0,4300	no	missense	ANAPC1	NM_022662.2	27	0,5,6498	CC,CG,GG		0.0,0.1135,0.0384	probably-damaging	538/1945	112608391	5,13001	2203	4300	6503	SO:0001583	missense	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1612C>G	2.37:g.112608391G>C	ENSP00000339109:p.Pro538Ala		Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	NULL	p.P538A	ENST00000341068.3	37	c.1612	CCDS2093.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.983|0.983	-0.696326|-0.696326	0.03279|0.03279	0.001135|0.001135	0.0|0.0	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.68|3.68	0.42216|0.42216	.|.	0.134141|.	0.31450|.	N|.	0.007633|.	T|T	0.40015|0.40015	0.1100|0.1100	L|L	0.33792|0.33792	1.035|1.035	0.26701|0.26701	N|N	0.971151|0.971151	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.25152|0.25152	-1.0140|-1.0140	9|5	0.02654|.	T|.	1|.	-10.1988|-10.1988	14.5563|14.5563	0.68103|0.68103	0.0:0.1477:0.8523:0.0|0.0:0.1477:0.8523:0.0	.|.	538|.	Q9H1A4|.	APC1_HUMAN|.	A|C	538|72	.|.	ENSP00000339109:P538A|.	P|S	-|-	1|2	0|0	ANAPC1|ANAPC1	112324862|112324862	1.000000|1.000000	0.71417|0.71417	0.320000|0.320000	0.25306|0.25306	0.136000|0.136000	0.21042|0.21042	4.720000|4.720000	0.61944|0.61944	0.898000|0.898000	0.36418|0.36418	0.449000|0.449000	0.29647|0.29647	CCA|TCC	ANAPC1	-	NULL		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	G	NM_022662		112608391	-1	no_errors	ENST00000341068	ensembl	human	known	70_37	missense	SNP	0.994	C
ANGEL1	23357	genome.wustl.edu	37	14	77273120	77273120	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:77273120C>G	ENST00000251089.2	-	5	1131	c.1019G>C	c.(1018-1020)aGa>aCa	p.R340T	ANGEL1_ENST00000557179.1_5'Flank|ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	340								p.R340T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CAGGCGGAATCTGGTAGGCTT	0.517																																																	1	Substitution - Missense(1)	cervix(1)											172.0	183.0	180.0					14																	77273120		2203	4300	6503	SO:0001583	missense	23357			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1019G>C	14.37:g.77273120C>G	ENSP00000251089:p.Arg340Thr		B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.R340T	ENST00000251089.2	37	c.1019	CCDS9852.1	14	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959146	0.74016	.	.	ENSG00000013523	ENST00000251089	T	0.80909	-1.43	5.97	5.97	0.96955	Endonuclease/exonuclease/phosphatase (2);	0.111999	0.64402	D	0.000018	D	0.84206	0.5421	M	0.74647	2.275	0.80722	D	1	P	0.51240	0.943	P	0.52424	0.698	D	0.84949	0.0870	10	0.59425	D	0.04	-2.9891	9.3878	0.38354	0.1447:0.7844:0.0:0.0709	.	340	Q9UNK9	ANGE1_HUMAN	T	340	ENSP00000251089:R340T	ENSP00000251089:R340T	R	-	2	0	ANGEL1	76342873	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	3.285000	0.51716	2.836000	0.97738	0.655000	0.94253	AGA	ANGEL1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.517	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL1	HGNC	protein_coding	OTTHUMT00000413712.2	C	NM_015305		77273120	-1	no_errors	ENST00000251089	ensembl	human	known	70_37	missense	SNP	0.971	G
ANK2	287	genome.wustl.edu	37	4	114163301	114163301	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:114163301G>C	ENST00000357077.4	+	9	880	c.827G>C	c.(826-828)aGa>aCa	p.R276T	ANK2_ENST00000506722.1_Missense_Mutation_p.R255T|ANK2_ENST00000264366.6_Missense_Mutation_p.R276T|ANK2_ENST00000394537.3_Missense_Mutation_p.R276T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	276					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R276T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCTTCCAAAAGAGGAAATACA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											179.0	162.0	168.0					4																	114163301		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.827G>C	4.37:g.114163301G>C	ENSP00000349588:p.Arg276Thr		Q01485|Q08AC7|Q08AC8|Q7Z3L5	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.R276T	ENST00000357077.4	37	c.827	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705930	0.89018	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.39	5.39	0.77823	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000024	T	0.74989	0.3789	L	0.46741	1.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.991	D;D;D;D;D	0.91635	0.999;0.987;0.999;0.996;0.988	T	0.72574	-0.4252	10	0.40728	T	0.16	.	19.5084	0.95130	0.0:0.0:1.0:0.0	.	276;276;276;255;255	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	T	255;255;255;291;276;276;276;255	ENSP00000423799:R255T;ENSP00000421011:R255T;ENSP00000421067:R255T;ENSP00000424722:R291T;ENSP00000378044:R276T;ENSP00000349588:R276T;ENSP00000264366:R276T	ENSP00000264366:R276T	R	+	2	0	ANK2	114382750	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.813000	0.99286	2.702000	0.92279	0.591000	0.81541	AGA	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114163301	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	C
ANKRD13B	124930	genome.wustl.edu	37	17	27939913	27939913	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:27939913C>T	ENST00000394859.3	+	14	1738	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	528						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.I528I(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						AGGTCACCATCTGGGAGGCGC	0.706																																																	1	Substitution - coding silent(1)	cervix(1)											18.0	21.0	20.0					17																	27939913		2196	4298	6494	SO:0001819	synonymous_variant	124930			AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1584C>T	17.37:g.27939913C>T			Q8N7S9	Silent	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.I528	ENST00000394859.3	37	c.1584	CCDS11251.1	17																																																																																			ANKRD13B	-	NULL		0.706	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13B	HGNC	protein_coding	OTTHUMT00000256077.1	C	NM_152345		27939913	+1	no_errors	ENST00000394859	ensembl	human	known	70_37	silent	SNP	0.999	T
ANKFN1	162282	genome.wustl.edu	37	17	54526454	54526454	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:54526454G>C	ENST00000318698.2	+	10	1158	c.1123G>C	c.(1123-1125)Gac>Cac	p.D375H	ANKFN1_ENST00000566473.2_Missense_Mutation_p.D375H	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	375								p.D375H(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAAAGACTATGACGACAGAGA	0.488																																																	1	Substitution - Missense(1)	cervix(1)											102.0	101.0	101.0					17																	54526454		2203	4300	6503	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	ENST00000318698.2:c.1123G>C	17.37:g.54526454G>C	ENSP00000321627:p.Asp375His			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.D375H	ENST00000318698.2	37	c.1123	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207066	0.58343	.	.	ENSG00000153930	ENST00000318698	T	0.33654	1.4	5.25	5.25	0.73442	Ankyrin repeat-containing domain (1);	0.140873	0.64402	D	0.000007	T	0.49592	0.1566	M	0.68593	2.085	0.52099	D	0.999945	D	0.69078	0.997	P	0.54499	0.754	T	0.53648	-0.8409	10	0.87932	D	0	-15.4421	12.6655	0.56840	0.086:0.0:0.914:0.0	.	375	Q8N957	ANKF1_HUMAN	H	375	ENSP00000321627:D375H	ENSP00000321627:D375H	D	+	1	0	ANKFN1	51881453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.007000	0.76335	2.460000	0.83146	0.655000	0.94253	GAC	ANKFN1	-	NULL		0.488	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	G	NM_153228		54526454	+1	no_errors	ENST00000318698	ensembl	human	known	70_37	missense	SNP	1.000	C
ANKRD26	22852	genome.wustl.edu	37	10	27301817	27301817	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:27301817C>G	ENST00000376087.4	-	32	5112	c.4947G>C	c.(4945-4947)ttG>ttC	p.L1649F	ANKRD26_ENST00000436985.2_Missense_Mutation_p.L1665F|ANKRD26_ENST00000376070.3_Missense_Mutation_p.L1206F	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1648					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.L1649F(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TAACCTTGCTCAAGTAGTTCT	0.328																																																	1	Substitution - Missense(1)	cervix(1)											113.0	104.0	107.0					10																	27301817		1823	4086	5909	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4947G>C	10.37:g.27301817C>G	ENSP00000365255:p.Leu1649Phe		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L1665F	ENST00000376087.4	37	c.4995	CCDS41499.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.78|14.78	2.636200|2.636200	0.47049|0.47049	.|.	.|.	ENSG00000107890|ENSG00000107890	ENST00000445828|ENST00000376070;ENST00000376087;ENST00000436985	.|T;T;T	.|0.46451	.|3.41;0.87;0.9	4.59|4.59	2.57|2.57	0.30868|0.30868	.|.	.|.	.|.	.|.	.|.	T|T	0.59293|0.59293	0.2183|0.2183	M|M	0.73217|0.73217	2.22|2.22	0.09310|0.09310	N|N	1|1	.|P;B;D	.|0.71674	.|0.559;0.423;0.998	.|B;B;D	.|0.83275	.|0.192;0.094;0.996	T|T	0.43360|0.43360	-0.9396|-0.9396	5|9	.|0.72032	.|D	.|0.01	.|.	7.5044|7.5044	0.27536|0.27536	0.1884:0.6293:0.1823:0.0|0.1884:0.6293:0.1823:0.0	.|.	.|1649;1648;1665	.|Q9UPS8-3;Q9UPS8;A1L497	.|.;ANR26_HUMAN;.	Q|F	137|1206;1649;1665	.|ENSP00000365238:L1206F;ENSP00000365255:L1649F;ENSP00000405112:L1665F	.|ENSP00000365238:L1206F	E|L	-|-	1|3	0|2	ANKRD26|ANKRD26	27341823|27341823	0.086000|0.086000	0.21541|0.21541	0.006000|0.006000	0.13384|0.13384	0.255000|0.255000	0.26057|0.26057	0.368000|0.368000	0.20399|0.20399	0.876000|0.876000	0.35872|0.35872	0.305000|0.305000	0.20034|0.20034	GAG|TTG	ANKRD26	-	NULL		0.328	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	C			27301817	-1	no_errors	ENST00000436985	ensembl	human	known	70_37	missense	SNP	0.010	G
ANKRD22	118932	genome.wustl.edu	37	10	90611348	90611348	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:90611348G>C	ENST00000371930.4	-	1	227	c.17C>G	c.(16-18)tCt>tGt	p.S6C		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	6								p.S6C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		ATGTACCTCAGAGTATAGGAT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											136.0	128.0	131.0					10																	90611348		2203	4300	6503	SO:0001583	missense	118932			BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"""Ankyrin repeat domain containing"""	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.17C>G	10.37:g.90611348G>C	ENSP00000360998:p.Ser6Cys		B2R9Y7|Q8WU06	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.S6C	ENST00000371930.4	37	c.17	CCDS7390.1	10	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652402	0.47362	.	.	ENSG00000152766	ENST00000371930	T	0.33654	1.4	4.18	4.18	0.49190	.	0.121589	0.64402	D	0.000019	T	0.39809	0.1092	M	0.65498	2.005	0.58432	D	0.999996	B	0.28512	0.214	B	0.34038	0.174	T	0.41734	-0.9492	10	0.59425	D	0.04	-13.5605	12.3074	0.54910	0.0:0.0:1.0:0.0	.	6	Q5VYY1	ANR22_HUMAN	C	6	ENSP00000360998:S6C	ENSP00000360998:S6C	S	-	2	0	ANKRD22	90601328	0.998000	0.40836	0.995000	0.50966	0.579000	0.36224	4.079000	0.57613	2.620000	0.88729	0.650000	0.86243	TCT	ANKRD22	-	NULL		0.383	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD22	HGNC	protein_coding	OTTHUMT00000049262.1	G	NM_144590		90611348	-1	no_errors	ENST00000371930	ensembl	human	known	70_37	missense	SNP	0.995	C
ANKRD30BL	554226	genome.wustl.edu	37	2	132911228	132911228	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:132911228C>T	ENST00000409867.1	-	4	864				ANKRD30BL_ENST00000470729.1_Intron|RNU6-1132P_ENST00000459214.1_RNA			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						TGCCAACTATCTCTGATGATC	0.388																																																	0																																										SO:0001627	intron_variant	554226					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.614+1006G>A	2.37:g.132911228C>T			B8ZZL7	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.E218	ENST00000409867.1	37	c.654		2																																																																																			ANKRD30BL	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.388	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331353.2	C	NR_027019		132911228	-1	no_errors	ENST00000295181	ensembl	human	known	70_37	silent	SNP	0.005	T
ANKS1A	23294	genome.wustl.edu	37	6	34985727	34985727	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:34985727C>T	ENST00000360359.3	+	11	2039	c.1901C>T	c.(1900-1902)tCa>tTa	p.S634L	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	634					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.S634L(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGACCTGCTCACCCACAGAG	0.572																																																	1	Substitution - Missense(1)	cervix(1)											160.0	171.0	167.0					6																	34985727		2203	4300	6503	SO:0001583	missense	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1901C>T	6.37:g.34985727C>T	ENSP00000353518:p.Ser634Leu		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S634L	ENST00000360359.3	37	c.1901	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567671	0.65651	.	.	ENSG00000064999	ENST00000360359	T	0.40225	1.04	5.27	5.27	0.74061	.	0.000000	0.42548	D	0.000697	T	0.56124	0.1964	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.57359	-0.7825	10	0.62326	D	0.03	-8.5701	19.2541	0.93938	0.0:1.0:0.0:0.0	.	634	Q92625	ANS1A_HUMAN	L	634	ENSP00000353518:S634L	ENSP00000353518:S634L	S	+	2	0	ANKS1A	35093705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.607000	0.88179	0.655000	0.94253	TCA	ANKS1A	-	NULL		0.572	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	C	XM_166478		34985727	+1	no_errors	ENST00000360359	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKS1A	23294	genome.wustl.edu	37	6	35046359	35046359	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:35046359G>A	ENST00000360359.3	+	14	2347	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	737	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.D737N(1)|p.D63N(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGAAGAGCAGGACCTGCGGGA	0.652																																																	2	Substitution - Missense(2)	cervix(2)											113.0	112.0	112.0					6																	35046359		2203	4300	6503	SO:0001583	missense	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2209G>A	6.37:g.35046359G>A	ENSP00000353518:p.Asp737Asn		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.D737N	ENST00000360359.3	37	c.2209	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595915	0.86953	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	D	0.87179	-2.22	4.81	4.81	0.61882	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.46145	D	0.000306	D	0.94338	0.8180	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.999	D	0.95617	0.8677	10	0.87932	D	0	-23.1718	17.4882	0.87694	0.0:0.0:1.0:0.0	.	63;63;737	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	N	737;63	ENSP00000353518:D737N	ENSP00000353518:D737N	D	+	1	0	ANKS1A	35154337	1.000000	0.71417	0.997000	0.53966	0.699000	0.40488	7.793000	0.85851	2.195000	0.70347	0.563000	0.77884	GAC	ANKS1A	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.652	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	G	XM_166478		35046359	+1	no_errors	ENST00000360359	ensembl	human	known	70_37	missense	SNP	1.000	A
ANPEP	290	genome.wustl.edu	37	15	90349434	90349434	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:90349434G>A	ENST00000300060.6	-	2	694	c.381C>T	c.(379-381)ctC>ctT	p.L127L		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	127	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.L127L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GGGTGTAGTTGAGCTTCTTGC	0.607																																					NSCLC(30;827 977 2459 19669 26125)												1	Substitution - coding silent(1)	cervix(1)											91.0	76.0	81.0					15																	90349434		2200	4299	6499	SO:0001819	synonymous_variant	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.381C>T	15.37:g.90349434G>A			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L127	ENST00000300060.6	37	c.381	CCDS10356.1	15																																																																																			ANPEP	-	pfam_Peptidase_M1_N		0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	G			90349434	-1	no_errors	ENST00000300060	ensembl	human	known	70_37	silent	SNP	1.000	A
AP3S1	1176	genome.wustl.edu	37	5	115230837	115230837	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:115230837G>C	ENST00000316788.7	+	4	884	c.327G>C	c.(325-327)ttG>ttC	p.L109F	AP3S1_ENST00000505423.1_3'UTR	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	109					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.L109F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		AGCTGGATTTGATTTTCCATG	0.269																																																	1	Substitution - Missense(1)	cervix(1)											53.0	55.0	55.0					5																	115230837		2200	4280	6480	SO:0001583	missense	1176			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.327G>C	5.37:g.115230837G>C	ENSP00000325369:p.Leu109Phe		O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.L109F	ENST00000316788.7	37	c.327	CCDS4123.1	5	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389146	0.61956	.	.	ENSG00000177879	ENST00000316788	T	0.57595	0.39	4.75	0.944	0.19537	Longin-like (1);AP complex, mu/sigma subunit (1);	0.155671	0.45361	D	0.000375	T	0.79375	0.4435	H	0.98351	4.21	0.46823	D	0.999217	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.988	T	0.78173	-0.2307	10	0.87932	D	0	-19.4911	7.7939	0.29135	0.7223:0.0:0.2777:0.0	.	109;109;109	B2R4I8;Q92572;F5H459	.;AP3S1_HUMAN;.	F	109	ENSP00000325369:L109F	ENSP00000325369:L109F	L	+	3	2	AP3S1	115258736	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.272000	0.51616	-0.018000	0.14079	0.563000	0.77884	TTG	AP3S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu		0.269	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S1	HGNC	protein_coding	OTTHUMT00000250847.2	G			115230837	+1	no_errors	ENST00000316788	ensembl	human	known	70_37	missense	SNP	1.000	C
AP4B1	10717	genome.wustl.edu	37	1	114438788	114438788	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:114438788C>G	ENST00000369569.1	-	8	1791				AP4B1_ENST00000462591.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit						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)		ATTTTCTTCTCGGGTCCCAGA	0.383																																																	0																																										SO:0001627	intron_variant	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.1510+91G>C	1.37:g.114438788C>G			B7Z4X3|Q59EJ4|Q96CL6	RNA	SNP	-	NULL	ENST00000369569.1	37	NULL	CCDS865.1	1																																																																																			AP4B1	-	-		0.383	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	C	NM_006594		114438788	-1	no_errors	ENST00000479285	ensembl	human	known	70_37	rna	SNP	0.000	G
APBB1IP	54518	genome.wustl.edu	37	10	26851194	26851194	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:26851194G>A	ENST00000376236.4	+	14	1824				APBB1IP_ENST00000493857.1_3'UTR	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTTCAGATCGACTTTCAAGA	0.378																																																	0																																										SO:0001627	intron_variant	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1370-61G>A	10.37:g.26851194G>A			Q8IWS8|Q8IYL7|Q8IZZ7	RNA	SNP	-	NULL	ENST00000376236.4	37	NULL	CCDS31167.1	10																																																																																			APBB1IP	-	-		0.378	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	G	NM_019043		26851194	+1	no_errors	ENST00000493857	ensembl	human	known	70_37	rna	SNP	0.000	A
APOA4	337	genome.wustl.edu	37	11	116692248	116692248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:116692248G>A	ENST00000357780.3	-	3	640	c.526C>T	c.(526-528)Cag>Tag	p.Q176*		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	176	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)	p.Q176*(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGCGAGGCCTGCAGGCTGTCG	0.667																																																	1	Substitution - Nonsense(1)	cervix(1)											140.0	126.0	130.0					11																	116692248		2201	4296	6497	SO:0001587	stop_gained	337				CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.526C>T	11.37:g.116692248G>A	ENSP00000350425:p.Gln176*		A8MSL6|Q14CW8|Q6Q787	Nonsense_Mutation	SNP	pfam_ApoA1_A4_E	p.Q176*	ENST00000357780.3	37	c.526	CCDS31681.1	11	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727016	0.48833	.	.	ENSG00000110244	ENST00000357780	.	.	.	5.02	1.96	0.26148	.	0.921363	0.09270	N	0.825262	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-5.1439	10.9698	0.47432	0.0:0.2639:0.5992:0.1369	.	.	.	.	X	176	.	ENSP00000350425:Q176X	Q	-	1	0	APOA4	116197458	0.974000	0.33945	0.017000	0.16124	0.006000	0.05464	2.797000	0.47877	0.126000	0.18424	-0.521000	0.04368	CAG	APOA4	-	pfam_ApoA1_A4_E		0.667	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA4	HGNC	protein_coding	OTTHUMT00000106279.2	G	NM_000482		116692248	-1	no_errors	ENST00000357780	ensembl	human	known	70_37	nonsense	SNP	0.907	A
APLP2	334	genome.wustl.edu	37	11	129979462	129979462	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:129979462G>C	ENST00000263574.5	+	2	316	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	APLP2_ENST00000338167.5_Missense_Mutation_p.E82Q|APLP2_ENST00000345598.5_Missense_Mutation_p.E82Q|APLP2_ENST00000543137.1_5'UTR|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000528499.1_Missense_Mutation_p.E82Q|APLP2_ENST00000278756.7_Missense_Mutation_p.E92Q	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	82					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.E82Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAGCTGCTTTGAAACAAAAGA	0.418																																																	1	Substitution - Missense(1)	cervix(1)											99.0	91.0	94.0					11																	129979462		2201	4297	6498	SO:0001583	missense	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.244G>C	11.37:g.129979462G>C	ENSP00000263574:p.Glu82Gln		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.E82Q	ENST00000263574.5	37	c.244	CCDS8486.1	11	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028455	0.35797	.	.	ENSG00000084234	ENST00000530416;ENST00000533195;ENST00000533713;ENST00000528499;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756	D;D;D;D;D	0.94092	-3.35;-1.7;-3.32;-1.84;-1.85	5.93	4.07	0.47477	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.111974	0.64402	D	0.000010	D	0.88016	0.6324	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B	0.30114	0.269;0.045;0.045;0.045;0.058	B;B;B;B;B	0.34652	0.187;0.022;0.022;0.022;0.15	D	0.86967	0.2095	10	0.66056	D	0.02	-7.4859	11.3321	0.49482	0.1443:0.0:0.8557:0.0	.	82;82;82;82;82	Q06481;Q06481-2;Q06481-5;Q06481-4;Q06481-3	APLP2_HUMAN;.;.;.;.	Q	29;107;67;82;82;82;82;92	ENSP00000435914:E82Q;ENSP00000263574:E82Q;ENSP00000263575:E82Q;ENSP00000345444:E82Q;ENSP00000278756:E92Q	ENSP00000263574:E82Q	E	+	1	0	APLP2	129484672	1.000000	0.71417	0.736000	0.30914	0.705000	0.40729	5.360000	0.66086	1.537000	0.49254	-0.136000	0.14681	GAA	APLP2	-	pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_heparin-bd,smart_Amyloid_glyco_extra		0.418	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	HGNC	protein_coding	OTTHUMT00000386109.1	G	NM_001642		129979462	+1	no_errors	ENST00000263574	ensembl	human	known	70_37	missense	SNP	0.991	C
APOB	338	genome.wustl.edu	37	2	21228336	21228336	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:21228336G>C	ENST00000233242.1	-	26	11531	c.11404C>G	c.(11404-11406)Caa>Gaa	p.Q3802E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3802					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.Q3802E(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTGGTTGAGAATATTTT	0.408																																																	1	Substitution - Missense(1)	cervix(1)											149.0	149.0	149.0					2																	21228336		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11404C>G	2.37:g.21228336G>C	ENSP00000233242:p.Gln3802Glu		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q3802E	ENST00000233242.1	37	c.11404	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	0.311	-0.967989	0.02232	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00669	5.9	5.57	-2.38	0.06622	.	1.661020	0.03132	N	0.165389	T	0.00440	0.0014	N	0.03115	-0.41	0.09310	N	0.999997	B	0.13594	0.008	B	0.12837	0.008	T	0.44097	-0.9350	10	0.02654	T	1	.	7.177	0.25751	0.0:0.2483:0.3456:0.4061	.	3802	P04114	APOB_HUMAN	E	3802	ENSP00000233242:Q3802E	ENSP00000233242:Q3802E	Q	-	1	0	APOB	21081841	0.000000	0.05858	0.018000	0.16275	0.993000	0.82548	-0.632000	0.05489	-0.196000	0.10366	0.655000	0.94253	CAA	APOB	-	NULL		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	G			21228336	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.000	C
APOB	338	genome.wustl.edu	37	2	21241867	21241867	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:21241867C>T	ENST00000233242.1	-	20	3245	c.3118G>A	c.(3118-3120)Gaa>Aaa	p.E1040K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1040					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E1040K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTCACCTTCTGCTTGAGTT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											126.0	118.0	121.0					2																	21241867		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3118G>A	2.37:g.21241867C>T	ENSP00000233242:p.Glu1040Lys		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E1040K	ENST00000233242.1	37	c.3118	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669991	0.88348	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01126	5.3	4.3	3.41	0.39046	Lipid transport, open beta-sheet (1);	0.000000	0.53938	D	0.000059	T	0.02929	0.0087	M	0.80183	2.485	0.80722	D	1	P	0.36974	0.576	B	0.39706	0.307	T	0.45338	-0.9268	10	0.54805	T	0.06	.	13.1907	0.59709	0.0:0.9194:0.0:0.0806	.	1040	P04114	APOB_HUMAN	K	1040	ENSP00000233242:E1040K	ENSP00000233242:E1040K	E	-	1	0	APOB	21095372	0.999000	0.42202	1.000000	0.80357	0.962000	0.63368	3.736000	0.55052	1.096000	0.41439	0.460000	0.39030	GAA	APOB	-	pfam_Lipid_transpt_open_b-sht		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21241867	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	1.000	T
APOBEC3B	9582	genome.wustl.edu	37	22	39381838	39381838	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:39381838C>T	ENST00000333467.3	+	3	241	c.196C>T	c.(196-198)Cac>Tac	p.H66Y	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.H66Y|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.H66Y	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	66	CMP/dCMP deaminase zinc-binding 1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H66Y(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCCTCAGTACCACGCAGAAAT	0.597																																																	1	Substitution - Missense(1)	cervix(1)											125.0	105.0	112.0					22																	39381838		2198	4287	6485	SO:0001583	missense	9582			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.196C>T	22.37:g.39381838C>T	ENSP00000327459:p.His66Tyr		B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.H66Y	ENST00000333467.3	37	c.196	CCDS13982.1	22	.	.	.	.	.	.	.	.	.	.	.	14.47	2.546224	0.45383	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	D;D;D	0.96522	-4.04;-4.04;-4.04	2.19	2.19	0.27852	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.	.	.	.	D	0.98311	0.9440	M	0.93808	3.46	0.21740	N	0.999565	D;D	0.76494	0.997;0.999	D;D	0.87578	0.998;0.988	D	0.92482	0.5993	9	0.87932	D	0	.	10.5105	0.44860	0.0:1.0:0.0:0.0	.	66;66	B0QYD2;Q9UH17	.;ABC3B_HUMAN	Y	66	ENSP00000385068:H66Y;ENSP00000385060:H66Y;ENSP00000327459:H66Y	ENSP00000327459:H66Y	H	+	1	0	APOBEC3B	37711784	0.972000	0.33761	0.037000	0.18230	0.014000	0.08584	4.428000	0.59894	1.555000	0.49500	0.306000	0.20318	CAC	APOBEC3B	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like		0.597	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3B	HGNC	protein_coding	OTTHUMT00000321233.1	C	NM_004900		39381838	+1	no_errors	ENST00000333467	ensembl	human	known	70_37	missense	SNP	0.538	T
APPL2	55198	genome.wustl.edu	37	12	105601801	105601801	+	Missense_Mutation	SNP	T	T	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:105601801T>G	ENST00000258530.3	-	7	647	c.422A>C	c.(421-423)gAc>gCc	p.D141A	APPL2_ENST00000549573.1_5'Flank|APPL2_ENST00000539978.2_Missense_Mutation_p.D98A|APPL2_ENST00000551662.1_Missense_Mutation_p.D147A	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.D141A(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATTGAGAGGTCATGCTCTAA	0.443																																																	1	Substitution - Missense(1)	cervix(1)											134.0	137.0	136.0					12																	105601801		2203	4300	6503	SO:0001583	missense	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.422A>C	12.37:g.105601801T>G	ENSP00000258530:p.Asp141Ala		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom	p.D147A	ENST00000258530.3	37	c.440	CCDS9101.1	12	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901938	0.72754	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553097	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.76	5.76	0.90799	.	0.045642	0.85682	D	0.000000	T	0.11965	0.0291	L	0.42245	1.32	0.80722	D	1	D;P;P	0.56035	0.974;0.91;0.91	P;B;B	0.45506	0.483;0.224;0.208	T	0.02104	-1.1213	10	0.44086	T	0.13	-34.8781	16.0784	0.80982	0.0:0.0:0.0:1.0	.	147;98;141	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	A	141;98;147;108	ENSP00000258530:D141A;ENSP00000444472:D98A;ENSP00000446917:D147A;ENSP00000449767:D108A	ENSP00000258530:D141A	D	-	2	0	APPL2	104125931	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.362000	0.79507	2.193000	0.70182	0.528000	0.53228	GAC	APPL2	-	NULL		0.443	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3	T	NM_018171		105601801	-1	no_errors	ENST00000551662	ensembl	human	known	70_37	missense	SNP	1.000	G
AQR	9716	genome.wustl.edu	37	15	35166070	35166070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:35166070G>A	ENST00000156471.5	-	30	3781	c.3556C>T	c.(3556-3558)Caa>Taa	p.Q1186*		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1186					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q1186*(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CCCACTCCTTGAAAATCTTCA	0.388																																																	1	Substitution - Nonsense(1)	cervix(1)											88.0	87.0	87.0					15																	35166070		1850	4090	5940	SO:0001587	stop_gained	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3556C>T	15.37:g.35166070G>A	ENSP00000156471:p.Gln1186*		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Nonsense_Mutation	SNP	NULL	p.Q1186*	ENST00000156471.5	37	c.3556	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	G	43	10.028796	0.99320	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	.	.	.	5.26	5.26	0.73747	.	0.090591	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1233	13.329	0.60475	0.0:0.0:0.7371:0.2629	.	.	.	.	X	1186	.	ENSP00000156471:Q1186X	Q	-	1	0	AQR	32953362	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.492000	0.66893	2.616000	0.88540	0.650000	0.86243	CAA	AQR	-	NULL		0.388	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	G	NM_014691		35166070	-1	no_errors	ENST00000156471	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ARAP1	116985	genome.wustl.edu	37	11	72408143	72408143	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:72408143G>C	ENST00000393609.3	-	22	3253	c.3051C>G	c.(3049-3051)ctC>ctG	p.L1017L	ARAP1_ENST00000393605.3_Silent_p.L777L|ARAP1_ENST00000359373.5_Silent_p.L1017L|ARAP1_ENST00000426523.1_Silent_p.L772L|ARAP1_ENST00000455638.2_Silent_p.L1017L|ARAP1_ENST00000334211.8_Silent_p.L772L|ARAP1_ENST00000429686.1_Silent_p.L711L|ARAP1_ENST00000495878.1_5'UTR	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1017	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.L777L(1)|p.L1017L(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGCCCTCCTTGAGGTGCACAG	0.642																																					Ovarian(102;1198 1520 13195 17913 37529)												2	Substitution - coding silent(2)	cervix(2)											53.0	54.0	54.0					11																	72408143		2200	4293	6493	SO:0001819	synonymous_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3051C>G	11.37:g.72408143G>C			A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.L1017	ENST00000393609.3	37	c.3051	CCDS41687.1	11																																																																																			ARAP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.642	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	G	NM_001040118		72408143	-1	no_errors	ENST00000393609	ensembl	human	known	70_37	silent	SNP	1.000	C
ARAP1	116985	genome.wustl.edu	37	11	72408153	72408153	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:72408153G>C	ENST00000393609.3	-	22	3243	c.3041C>G	c.(3040-3042)tCt>tGt	p.S1014C	ARAP1_ENST00000393605.3_Missense_Mutation_p.S774C|ARAP1_ENST00000359373.5_Missense_Mutation_p.S1014C|ARAP1_ENST00000426523.1_Missense_Mutation_p.S769C|ARAP1_ENST00000455638.2_Missense_Mutation_p.S1014C|ARAP1_ENST00000334211.8_Missense_Mutation_p.S769C|ARAP1_ENST00000429686.1_Missense_Mutation_p.S708C|ARAP1_ENST00000495878.1_5'UTR	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1014	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.S774C(1)|p.S1014C(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GAGGTGCACAGAGCGCGCATC	0.657																																					Ovarian(102;1198 1520 13195 17913 37529)												2	Substitution - Missense(2)	cervix(2)											52.0	53.0	52.0					11																	72408153		2200	4293	6493	SO:0001583	missense	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3041C>G	11.37:g.72408153G>C	ENSP00000377233:p.Ser1014Cys		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S1014C	ENST00000393609.3	37	c.3041	CCDS41687.1	11	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408641	0.83340	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971	T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.35	3.34	0.38264	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.260649	0.37809	N	0.001929	T	0.27134	0.0665	L	0.41415	1.275	0.32245	N	0.57218	P;P;P;P;P	0.51933	0.902;0.57;0.681;0.949;0.881	P;B;B;P;P	0.55222	0.643;0.119;0.368;0.771;0.511	T	0.30060	-0.9991	10	0.87932	D	0	.	8.7267	0.34474	0.0:0.3295:0.5299:0.1406	.	769;708;1014;1014;774	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	C	1014;1014;774;769;1014;769;708;302	ENSP00000352332:S1014C;ENSP00000390461:S1014C;ENSP00000377230:S774C;ENSP00000335506:S769C;ENSP00000377233:S1014C;ENSP00000392264:S769C;ENSP00000403127:S708C;ENSP00000411452:S302C	ENSP00000335506:S769C	S	-	2	0	ARAP1	72085801	0.846000	0.29590	0.964000	0.40570	0.969000	0.65631	1.444000	0.35068	1.221000	0.43506	0.455000	0.32223	TCT	ARAP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.657	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	G	NM_001040118		72408153	-1	no_errors	ENST00000393609	ensembl	human	known	70_37	missense	SNP	0.994	C
ARFGEF2	10564	genome.wustl.edu	37	20	47649562	47649562	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:47649562C>G	ENST00000371917.4	+	39	5184	c.5184C>G	c.(5182-5184)ttC>ttG	p.F1728L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1728					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.F1728L(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACCTCAAGTTCAAAGCACATG	0.403																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												1	Substitution - Missense(1)	cervix(1)											70.0	63.0	65.0					20																	47649562		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.5184C>G	20.37:g.47649562C>G	ENSP00000360985:p.Phe1728Leu		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.F1728L	ENST00000371917.4	37	c.5184	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231076	0.58777	.	.	ENSG00000124198	ENST00000371917	T	0.61040	0.14	5.66	4.63	0.57726	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	M	0.80183	2.485	0.80722	D	1	B	0.27971	0.196	B	0.23574	0.047	T	0.55042	-0.8202	10	0.41790	T	0.15	.	6.204	0.20591	0.0:0.4452:0.0:0.5548	.	1728	Q9Y6D5	BIG2_HUMAN	L	1728	ENSP00000360985:F1728L	ENSP00000360985:F1728L	F	+	3	2	ARFGEF2	47082969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.690000	0.25451	1.199000	0.43173	0.655000	0.94253	TTC	ARFGEF2	-	superfamily_ARM-type_fold		0.403	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	C	NM_006420		47649562	+1	no_errors	ENST00000371917	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGAP24	83478	genome.wustl.edu	37	4	86916229	86916229	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:86916229G>A	ENST00000395184.1	+	9	1888	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	ARHGAP24_ENST00000395183.2_Silent_p.T379T|ARHGAP24_ENST00000264343.4_Silent_p.T381T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	474					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.T474T(1)|p.T381T(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAATGGGCACGCACAGTGTAC	0.517																																																	2	Substitution - coding silent(2)	cervix(2)											84.0	84.0	84.0					4																	86916229		2203	4300	6503	SO:0001819	synonymous_variant	83478			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1422G>A	4.37:g.86916229G>A			Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.T474	ENST00000395184.1	37	c.1422	CCDS34025.1	4																																																																																			ARHGAP24	-	NULL		0.517	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	G	NM_031305		86916229	+1	no_errors	ENST00000395184	ensembl	human	known	70_37	silent	SNP	0.526	A
ARHGAP30	257106	genome.wustl.edu	37	1	161018122	161018122	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:161018122C>T	ENST00000368013.3	-	12	3009	c.2689G>A	c.(2689-2691)Gag>Aag	p.E897K	USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E686K|USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E720K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	897	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.E686K(1)|p.E897K(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCTCCATCTCCTCTGGCTGA	0.597																																																	2	Substitution - Missense(2)	cervix(2)											42.0	38.0	39.0					1																	161018122		2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2689G>A	1.37:g.161018122C>T	ENSP00000356992:p.Glu897Lys		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E897K	ENST00000368013.3	37	c.2689	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	C	8.923	0.961619	0.18583	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.34275	2.96;2.9;1.37	4.7	3.75	0.43078	.	0.458599	0.18377	N	0.143066	T	0.17152	0.0412	M	0.63428	1.95	0.09310	N	1	B;B	0.30482	0.281;0.275	B;B	0.27796	0.083;0.025	T	0.08743	-1.0707	10	0.30078	T	0.28	.	12.3216	0.54987	0.0:0.8277:0.1723:0.0	.	897;686	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	K	686;897;720	ENSP00000356995:E686K;ENSP00000356992:E897K;ENSP00000356994:E720K	ENSP00000356992:E897K	E	-	1	0	ARHGAP30	159284746	0.035000	0.19736	0.313000	0.25210	0.112000	0.19704	1.494000	0.35616	0.903000	0.36546	0.455000	0.32223	GAG	ARHGAP30	-	NULL		0.597	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	C	NM_181720		161018122	-1	no_errors	ENST00000368013	ensembl	human	known	70_37	missense	SNP	0.324	T
ARHGAP30	257106	genome.wustl.edu	37	1	161018560	161018560	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:161018560C>T	ENST00000368013.3	-	12	2571	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K	USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E574K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	751	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.E751K(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTTCTCTCTCAATTTCTTTT	0.483																																																	1	Substitution - Missense(1)	cervix(1)											199.0	202.0	201.0					1																	161018560		2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2251G>A	1.37:g.161018560C>T	ENSP00000356992:p.Glu751Lys		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E751K	ENST00000368013.3	37	c.2251	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	C	2.272	-0.366648	0.05069	.	.	ENSG00000186517	ENST00000368013;ENST00000368015	T;T	0.30448	3.06;1.53	4.81	0.709	0.18150	.	0.967851	0.08452	N	0.943775	T	0.09247	0.0228	L	0.60455	1.87	0.09310	N	1	B	0.20550	0.046	B	0.15870	0.014	T	0.40403	-0.9565	10	0.08381	T	0.77	.	7.9523	0.30023	0.0:0.623:0.0:0.377	.	751	Q7Z6I6	RHG30_HUMAN	K	751;574	ENSP00000356992:E751K;ENSP00000356994:E574K	ENSP00000356992:E751K	E	-	1	0	ARHGAP30	159285184	0.011000	0.17503	0.002000	0.10522	0.086000	0.17979	1.657000	0.37366	0.439000	0.26476	0.455000	0.32223	GAG	ARHGAP30	-	NULL		0.483	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	C	NM_181720		161018560	-1	no_errors	ENST00000368013	ensembl	human	known	70_37	missense	SNP	0.003	T
ARHGAP44	9912	genome.wustl.edu	37	17	12893363	12893363	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:12893363G>C	ENST00000379672.5	+	21	2632	c.2332G>C	c.(2332-2334)Gat>Cat	p.D778H	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.D772H|ARHGAP44_ENST00000262444.9_3'UTR|RP11-597M12.1_ENST00000582915.1_RNA	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	778	Interaction with BST2.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.D778H(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGTCCACTTTGATATTCCCTC	0.542																																																	1	Substitution - Missense(1)	cervix(1)											104.0	103.0	103.0					17																	12893363		1990	4176	6166	SO:0001583	missense	9912				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.2332G>C	17.37:g.12893363G>C	ENSP00000368994:p.Asp778His		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.D778H	ENST00000379672.5	37	c.2332	CCDS45616.1	17	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786151	0.49997	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.20463	2.12;2.07	5.73	4.76	0.60689	.	0.159175	0.40302	N	0.001128	T	0.16085	0.0387	N	0.19112	0.55	0.80722	D	1	P;P	0.49635	0.926;0.926	B;B	0.42882	0.401;0.401	T	0.02471	-1.1154	10	0.87932	D	0	.	12.4986	0.55942	0.081:0.0:0.919:0.0	.	772;778	A6NCP5;Q17R89	.;RHG44_HUMAN	H	778;772	ENSP00000368994:D778H;ENSP00000342566:D772H	ENSP00000342566:D772H	D	+	1	0	ARHGAP44	12834088	1.000000	0.71417	0.177000	0.23020	0.126000	0.20510	7.164000	0.77533	1.429000	0.47314	-0.136000	0.14681	GAT	ARHGAP44	-	NULL		0.542	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP44	HGNC	protein_coding	OTTHUMT00000441566.1	G	NM_014859		12893363	+1	no_errors	ENST00000379672	ensembl	human	known	70_37	missense	SNP	0.977	C
ARHGEF2	9181	genome.wustl.edu	37	1	155932738	155932738	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155932738G>C	ENST00000361247.4	-	8	1060	c.961C>G	c.(961-963)Ctg>Gtg	p.L321V	ARHGEF2_ENST00000368315.4_Missense_Mutation_p.L322V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.L320V|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.L293V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.L293V|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.L366V|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	321	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L293V(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGATGAGCAGATCACCCAAG	0.562																																					Melanoma(178;35 2768 6610 28839)												1	Substitution - Missense(1)	cervix(1)											59.0	59.0	59.0					1																	155932738		2203	4300	6503	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.961C>G	1.37:g.155932738G>C	ENSP00000354837:p.Leu321Val		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,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.L322V	ENST00000361247.4	37	c.964	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	G	4.918	0.170596	0.09391	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	4.93	4.0	0.46444	Dbl homology (DH) domain (5);	0.000000	0.37623	N	0.002010	T	0.14527	0.0351	N	0.05280	-0.08	0.33943	D	0.643515	B;B;B;B	0.32526	0.033;0.166;0.374;0.137	B;B;B;B	0.35039	0.07;0.124;0.194;0.076	T	0.06534	-1.0821	10	0.17369	T	0.5	-18.8059	5.7578	0.18182	0.1002:0.0:0.7076:0.1921	.	366;365;321;320	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	V	293;321;322;293;366;294;320	ENSP00000315325:L293V;ENSP00000354837:L321V;ENSP00000357298:L322V;ENSP00000357299:L293V;ENSP00000314787:L320V	ENSP00000314787:L320V	L	-	1	2	ARHGEF2	154199362	0.996000	0.38824	1.000000	0.80357	0.697000	0.40408	0.290000	0.18975	1.402000	0.46780	0.609000	0.83330	CTG	ARHGEF2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.562	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	G	NM_004723		155932738	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	missense	SNP	1.000	C
ARHGEF2	9181	genome.wustl.edu	37	1	155934786	155934786	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155934786G>A	ENST00000361247.4	-	7	816	c.717C>T	c.(715-717)gtC>gtT	p.V239V	ARHGEF2_ENST00000368315.4_Silent_p.V240V|ARHGEF2_ENST00000313667.4_Silent_p.V238V|ARHGEF2_ENST00000368316.1_Silent_p.V211V|ARHGEF2_ENST00000313695.7_Silent_p.V211V|ARHGEF2_ENST00000462460.2_Silent_p.V284V|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	239	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V211V(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TACCATAGATGACATCTTGCT	0.418																																					Melanoma(178;35 2768 6610 28839)												1	Substitution - coding silent(1)	cervix(1)											155.0	137.0	143.0					1																	155934786		2203	4300	6503	SO:0001819	synonymous_variant	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.717C>T	1.37:g.155934786G>A			D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,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.V240	ENST00000361247.4	37	c.720	CCDS53376.1	1																																																																																			ARHGEF2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.418	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	G	NM_004723		155934786	-1	no_errors	ENST00000368315	ensembl	human	known	70_37	silent	SNP	1.000	A
ARHGEF3	50650	genome.wustl.edu	37	3	56763299	56763299	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:56763299C>G	ENST00000296315.3	-	10	1748	c.1580G>C	c.(1579-1581)tGa>tCa	p.*527S	ARHGEF3_ENST00000338458.4_Nonstop_Mutation_p.*559S|ARHGEF3_ENST00000496106.1_Nonstop_Mutation_p.*533S|ARHGEF3_ENST00000497267.1_Nonstop_Mutation_p.*498S|ARHGEF3_ENST00000413728.2_Nonstop_Mutation_p.*533S	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	0					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.*527S(2)|p.*559S(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ATGCTTCTGTCAGACGTTACT	0.493																																																	3	Nonstop extension(3)	cervix(3)											173.0	125.0	141.0					3																	56763299		2203	4300	6503	SO:0001578	stop_lost	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1580G>C	3.37:g.56763299C>G			A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Nonstop_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.*559S	ENST00000296315.3	37	c.1676	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	C	9.536	1.112169	0.20795	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267	.	.	.	5.94	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5609	0.68136	0.0:0.9304:0.0:0.0696	.	.	.	.	S	527;559;533;533;498	.	.	X	-	2	2	ARHGEF3	56738339	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	3.790000	0.55461	2.826000	0.97356	0.561000	0.74099	TGA	ARHGEF3	-	NULL		0.493	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	C	NM_019555		56763299	-1	no_errors	ENST00000338458	ensembl	human	known	70_37	nonstop	SNP	1.000	G
ARHGEF4	50649	genome.wustl.edu	37	2	131798860	131798860	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:131798860G>A	ENST00000326016.5	+	9	1681	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	ARHGEF4_ENST00000355771.3_Missense_Mutation_p.E317K|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E328K|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.E388K|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E388K|ARHGEF4_ENST00000428230.2_Intron	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	388	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)	p.E388K(1)		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)		CGCCTGCGTGGAGCTCTCCCG	0.577																																																	1	Substitution - Missense(1)	cervix(1)											116.0	110.0	112.0					2																	131798860		2203	4300	6503	SO:0001583	missense	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.1162G>A	2.37:g.131798860G>A	ENSP00000316845:p.Glu388Lys		Q9HDC6|Q9UPP0	Missense_Mutation	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.E388K	ENST00000326016.5	37	c.1162	CCDS2165.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.165701|5.165701	0.94768|0.94768	.|.	.|.	ENSG00000136002|ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771|ENST00000532720	T;T;T;T;T|.	0.63096|.	-0.02;-0.02;-0.02;-0.02;-0.02|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Dbl homology (DH) domain (5);|.	0.056964|.	0.64402|.	D|.	0.000001|.	T|T	0.75191|0.75191	0.3816|0.3816	M|M	0.76328|0.76328	2.33|2.33	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.61080|.	0.971;0.963;0.989|.	P;P;D|.	0.65010|.	0.893;0.829;0.931|.	T|T	0.75808|0.75808	-0.3187|-0.3187	10|5	0.52906|.	T|.	0.07|.	.|.	16.2024|16.2024	0.82095|0.82095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	328;388;388|.	E9PEM0;Q9NR80-4;Q9NR80|.	.;.;ARHG4_HUMAN|.	K|E	388;388;388;328;317|4	ENSP00000316845:E388K;ENSP00000376680:E388K;ENSP00000432267:E388K;ENSP00000387285:E328K;ENSP00000348017:E317K|.	ENSP00000316845:E388K|.	E|G	+|+	1|2	0|0	ARHGEF4|ARHGEF4	131515330|131515330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.564000|5.564000	0.67359|0.67359	2.415000|2.415000	0.81967|0.81967	0.561000|0.561000	0.74099|0.74099	GAG|GGA	ARHGEF4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.577	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	G			131798860	+1	no_errors	ENST00000326016	ensembl	human	known	70_37	missense	SNP	0.999	A
ARHGEF7	8874	genome.wustl.edu	37	13	111927125	111927125	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:111927125C>T	ENST00000375741.2	+	12	1573	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	ARHGEF7_ENST00000375739.2_Silent_p.F391F|ARHGEF7_ENST00000317133.5_Silent_p.F420F|ARHGEF7_ENST00000218789.5_Silent_p.F263F|ARHGEF7_ENST00000478679.1_Silent_p.F185F|ARHGEF7_ENST00000370623.3_Silent_p.F348F|ARHGEF7_ENST00000375736.4_Silent_p.F263F|ARHGEF7_ENST00000375737.5_Silent_p.F338F|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375723.1_Silent_p.F263F|ARHGEF7_ENST00000426073.2_Silent_p.F263F|ARHGEF7_ENST00000544132.1_Silent_p.F97F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	441	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F420F(1)|p.F263F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGCTGCCTTCAAAAACCTTT	0.303																																																	2	Substitution - coding silent(2)	cervix(2)											95.0	95.0	95.0					13																	111927125		2203	4299	6502	SO:0001819	synonymous_variant	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1323C>T	13.37:g.111927125C>T			B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.F441	ENST00000375741.2	37	c.1323	CCDS45068.1	13																																																																																			ARHGEF7	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.303	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		C	NM_001113511		111927125	+1	no_errors	ENST00000375741	ensembl	human	known	70_37	silent	SNP	1.000	T
ARID4A	5926	genome.wustl.edu	37	14	58832749	58832749	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:58832749C>T	ENST00000355431.3	+	22	3697	c.3324C>T	c.(3322-3324)agC>agT	p.S1108S	ARID4A_ENST00000395168.3_Silent_p.S1108S|ARID4A_ENST00000431317.2_Intron|ARID4A_ENST00000348476.3_Intron	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1108					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1108S(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAGGACAAAGCAGTGATAGTG	0.323																																																	2	Substitution - coding silent(2)	cervix(2)											106.0	117.0	113.0					14																	58832749		2202	4300	6502	SO:0001819	synonymous_variant	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3324C>T	14.37:g.58832749C>T			Q15991|Q15992|Q15993	Silent	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.S1108	ENST00000355431.3	37	c.3324	CCDS9732.1	14																																																																																			ARID4A	-	NULL		0.323	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	C	NM_023001		58832749	+1	no_errors	ENST00000355431	ensembl	human	known	70_37	silent	SNP	1.000	T
ARMC4	55130	genome.wustl.edu	37	10	28283895	28283895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:28283895C>T	ENST00000305242.5	-	2	269	c.177G>A	c.(175-177)tgG>tgA	p.W59*		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	59					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.W59*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AACTTGTGTTCCATTCAAGTG	0.353																																																	1	Substitution - Nonsense(1)	cervix(1)											85.0	79.0	81.0					10																	28283895		2203	4300	6503	SO:0001587	stop_gained	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.177G>A	10.37:g.28283895C>T	ENSP00000306410:p.Trp59*		A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.W59*	ENST00000305242.5	37	c.177	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036534	0.35893	.	.	ENSG00000169126	ENST00000305242	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5248	18.2268	0.89920	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000306410:W59X	W	-	3	0	ARMC4	28323901	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	5.411000	0.66386	2.293000	0.77203	0.585000	0.79938	TGG	ARMC4	-	NULL		0.353	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	C	NM_018076		28283895	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ASMTL	8623	genome.wustl.edu	37	X	1561059	1561059	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:1561059G>A	ENST00000381317.3	-	2	258				ASMTL_ENST00000534940.1_Intron|ASMTL_ENST00000416733.2_Intron|ASMTL_ENST00000381333.4_Intron	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like							cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				CATAAGGGCCGAAGGGCAGGG	0.542													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16604	0.0		0.0	False		,,,				2504	0.0																0													112.0	120.0	117.0					X																	1561059		1869	4096	5965	SO:0001627	intron_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.225+19C>T	X.37:g.1561059G>A			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	RNA	SNP	-	NULL	ENST00000381317.3	37	NULL	CCDS43917.1	X																																																																																			ASMTL	-	-		0.542	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	G	NM_004192		1561059	-1	no_errors	ENST00000474865	ensembl	human	known	70_37	rna	SNP	0.000	A
ASB9	140462	genome.wustl.edu	37	X	15266972	15266972	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:15266972G>C	ENST00000380488.4	-	6	927	c.654C>G	c.(652-654)ctC>ctG	p.L218L	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Silent_p.L218L|ASB9_ENST00000380483.3_Silent_p.L208L|ASB9_ENST00000546332.1_Silent_p.L218L	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	218					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)		p.L218L(2)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CAAAATCCATGAGCAGGCAGG	0.582																																																	2	Substitution - coding silent(2)	cervix(2)											80.0	68.0	72.0					X																	15266972		2203	4300	6503	SO:0001819	synonymous_variant	140462			AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.654C>G	X.37:g.15266972G>C			A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.L218	ENST00000380488.4	37	c.654	CCDS35208.1	X																																																																																			ASB9	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.582	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB9	HGNC	protein_coding	OTTHUMT00000055844.1	G			15266972	-1	no_errors	ENST00000380488	ensembl	human	known	70_37	silent	SNP	0.955	C
ASPH	444	genome.wustl.edu	37	8	62566204	62566204	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:62566204G>C	ENST00000379454.4	-	4	525	c.338C>G	c.(337-339)tCt>tGt	p.S113C	ASPH_ENST00000445642.3_Missense_Mutation_p.S99C|ASPH_ENST00000517847.2_Missense_Mutation_p.S99C|ASPH_ENST00000522835.1_Missense_Mutation_p.S99C|ASPH_ENST00000518068.1_Missense_Mutation_p.S113C|ASPH_ENST00000517903.1_Missense_Mutation_p.S99C|ASPH_ENST00000541428.1_Missense_Mutation_p.S84C|ASPH_ENST00000356457.5_Missense_Mutation_p.S113C	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	113	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.S113C(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCTGAAGTAGATCTCTCTTT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											83.0	72.0	76.0					8																	62566204		2203	4300	6503	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.338C>G	8.37:g.62566204G>C	ENSP00000368767:p.Ser113Cys		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S113C	ENST00000379454.4	37	c.338	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934657	0.73442	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306	T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.15	5.15	0.70609	Aspartyl beta-hydroxylase/Triadin domain (1);	2.576260	0.01103	N	0.005420	T	0.70937	0.3281	L	0.44542	1.39	0.37830	D	0.928681	D;D;D;D;P;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.999;0.948;0.995;0.999;0.995;0.999;0.971	D;D;D;D;P;P;D;P;D;P	0.81914	0.956;0.995;0.981;0.95;0.792;0.893;0.971;0.874;0.971;0.81	T	0.54255	-0.8321	10	0.66056	D	0.02	-2.929	14.0048	0.64456	0.0:0.0:1.0:0.0	.	113;99;99;99;84;113;113;113;99;113	B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;ASPH_HUMAN	C	113;84;113;113;128;113;99;99;99;99;84	ENSP00000437864:S84C;ENSP00000368767:S113C;ENSP00000348841:S113C;ENSP00000427823:S128C;ENSP00000429286:S113C;ENSP00000430245:S99C;ENSP00000394013:S99C;ENSP00000429954:S99C;ENSP00000429160:S99C;ENSP00000427877:S84C	ENSP00000348841:S113C	S	-	2	0	ASPH	62728758	0.999000	0.42202	0.852000	0.33557	0.901000	0.52897	4.315000	0.59172	2.694000	0.91930	0.557000	0.71058	TCT	ASPH	-	pfam_Asp-B-hydro/Triadin_dom		0.448	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	G	NM_004318		62566204	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	missense	SNP	0.959	C
ASPN	54829	genome.wustl.edu	37	9	95219736	95219736	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:95219736C>G	ENST00000375544.3	-	8	1220	c.977G>C	c.(976-978)aGa>aCa	p.R326T	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_3'UTR	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	326					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.R326T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TACTCCCACTCTTGCAATTGA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											91.0	90.0	90.0					9																	95219736		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.977G>C	9.37:g.95219736C>G	ENSP00000364694:p.Arg326Thr		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.R326T	ENST00000375544.3	37	c.977		9	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577756	0.28180	.	.	ENSG00000106819	ENST00000375544	T	0.04083	3.71	5.1	3.97	0.46021	.	0.380726	0.31922	N	0.006857	T	0.03053	0.0090	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48387	-0.9040	10	0.52906	T	0.07	.	10.39	0.44162	0.0:0.079:0.0:0.921	.	326	Q9BXN1	ASPN_HUMAN	T	326	ENSP00000364694:R326T	ENSP00000364694:R326T	R	-	2	0	ASPN	94259557	1.000000	0.71417	0.971000	0.41717	0.895000	0.52256	2.030000	0.41108	0.912000	0.36772	-0.389000	0.06534	AGA	ASPN	-	pirsf_SLRP_I_decor/aspor/byglycan		0.348	ASPN-001	KNOWN	basic|appris_principal	protein_coding	ASPN	HGNC	protein_coding	OTTHUMT00000053094.1	C	NM_017680		95219736	-1	no_errors	ENST00000375544	ensembl	human	known	70_37	missense	SNP	0.985	G
ASTN1	460	genome.wustl.edu	37	1	177133810	177133810	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:177133810C>T	ENST00000367654.3	-	1	214	c.3G>A	c.(1-3)atG>atA	p.M1I	ASTN1_ENST00000361833.2_Start_Codon_SNP_p.M1I|ASTN1_ENST00000367657.3_Start_Codon_SNP_p.M1I|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Start_Codon_SNP_p.M1I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1					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)		p.M1I(1)		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						CGGCTAAAGCCATCTTGAGCC	0.731																																																	1	Substitution - Missense(1)	cervix(1)											8.0	9.0	8.0					1																	177133810		2094	4036	6130	SO:0001582	initiator_codon_variant	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.3G>A	1.37:g.177133810C>T	ENSP00000356626:p.Met1Ile		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.M1I	ENST00000367654.3	37	c.3		1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658950	0.67586	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.13538	2.58;3.0;3.0;2.59	3.19	3.19	0.36642	.	0.273169	0.25741	N	0.028616	T	0.25306	0.0615	.	.	.	0.80722	D	1	P;P;P	0.39044	0.656;0.656;0.656	P;P;P	0.48627	0.584;0.584;0.584	T	0.11372	-1.0590	9	0.87932	D	0	-21.7778	14.471	0.67517	0.0:1.0:0.0:0.0	.	1;1;1	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	I	1	ENSP00000356629:M1I;ENSP00000354536:M1I;ENSP00000356626:M1I;ENSP00000395041:M1I	ENSP00000354536:M1I	M	-	3	0	ASTN1	175400433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.719000	0.61937	1.793000	0.52555	0.561000	0.74099	ATG	ASTN1	-	NULL		0.731	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		C	NM_004319	Missense_Mutation	177133810	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	1.000	T
ATG16L2	89849	genome.wustl.edu	37	11	72533173	72533173	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:72533173G>A	ENST00000321297.5	+	5	615	c.477G>A	c.(475-477)caG>caA	p.Q159Q	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	159					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q159Q(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGCGGGCGCAGAATGCGGTGC	0.751																																																	1	Substitution - coding silent(1)	cervix(1)											3.0	3.0	3.0					11																	72533173		1633	3489	5122	SO:0001819	synonymous_variant	89849			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.477G>A	11.37:g.72533173G>A			A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Silent	SNP	pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q159	ENST00000321297.5	37	c.477	CCDS31634.1	11																																																																																			ATG16L2	-	pfam_Autophagy-rel_prot_16		0.751	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L2	HGNC	protein_coding	OTTHUMT00000397305.1	G	NM_033388		72533173	+1	no_errors	ENST00000321297	ensembl	human	known	70_37	silent	SNP	0.151	A
ATG2B	55102	genome.wustl.edu	37	14	96757971	96757971	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:96757971C>T	ENST00000359933.4	-	38	6438	c.5545G>A	c.(5545-5547)Gaa>Aaa	p.E1849K	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1849					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.E1849K(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGCTTTAGTTCAGAGCAGTTT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											105.0	111.0	109.0					14																	96757971		2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5545G>A	14.37:g.96757971C>T	ENSP00000353010:p.Glu1849Lys		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E1849K	ENST00000359933.4	37	c.5545	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	36	5.660417	0.96734	.	.	ENSG00000066739	ENST00000359933	T	0.12984	2.63	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.00759	-1.1578	10	0.36615	T	0.2	.	18.4502	0.90700	0.0:1.0:0.0:0.0	.	1849	Q96BY7	ATG2B_HUMAN	K	1849	ENSP00000353010:E1849K	ENSP00000261834:E493K	E	-	1	0	ATG2B	95827724	1.000000	0.71417	0.602000	0.28890	0.990000	0.78478	5.436000	0.66538	2.636000	0.89361	0.655000	0.94253	GAA	ATG2B	-	NULL		0.338	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96757971	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP11A	23250	genome.wustl.edu	37	13	113514622	113514622	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:113514622C>G	ENST00000487903.1	+	24	2837	c.2749C>G	c.(2749-2751)Ctg>Gtg	p.L917V	ATP11A_ENST00000375645.3_Missense_Mutation_p.L917V|ATP11A_ENST00000283558.8_Missense_Mutation_p.L917V|ATP11A_ENST00000375630.2_Missense_Mutation_p.L917V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	917					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L917V(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CACCGCGTATCTGACCCTCTA	0.463																																																	2	Substitution - Missense(2)	cervix(2)											233.0	201.0	212.0					13																	113514622		2203	4300	6503	SO:0001583	missense	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2749C>G	13.37:g.113514622C>G	ENSP00000420387:p.Leu917Val		Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,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.L917V	ENST00000487903.1	37	c.2749	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.950615|3.950615	0.73787|0.73787	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|D;D;D;D	.|0.90004	.|-2.6;-2.6;-2.6;-2.6	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94525|0.94525	0.8237|0.8237	M|M	0.80982|0.80982	2.52|2.52	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;P	.|0.69078	.|0.997;0.947;0.756	.|D;P;P	.|0.67548	.|0.952;0.829;0.688	D|D	0.94944|0.94944	0.8094|0.8094	5|10	.|0.72032	.|D	.|0.01	.|.	19.0225|19.0225	0.92920|0.92920	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|917;917;917	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	M|V	891|917	.|ENSP00000420387:L917V;ENSP00000364781:L917V;ENSP00000364796:L917V;ENSP00000283558:L917V	.|ENSP00000283558:L917V	I|L	+|+	3|1	3|2	ATP11A|ATP11A	112562623|112562623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.860000|0.860000	0.49131|0.49131	3.371000|3.371000	0.52379|0.52379	2.487000|2.487000	0.83934|0.83934	0.561000|0.561000	0.74099|0.74099	ATC|CTG	ATP11A	-	tigrfam_ATPase_P-typ_Plipid-transl		0.463	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	C	NM_015205		113514622	+1	no_errors	ENST00000375630	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP11B	23200	genome.wustl.edu	37	3	182583386	182583386	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:182583386G>A	ENST00000323116.5	+	13	1603	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	448					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G448E(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCTTCAGAAGGAAACTTATCT	0.373																																																	1	Substitution - Missense(1)	cervix(1)											117.0	118.0	118.0					3																	182583386		2203	4300	6503	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1343G>A	3.37:g.182583386G>A	ENSP00000321195:p.Gly448Glu		Q96FN1|Q9UKK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G448E	ENST00000323116.5	37	c.1343	CCDS33896.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.40|18.40	3.615448|3.615448	0.66672|0.66672	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116	.|D	.|0.96136	.|-3.92	5.82|5.82	4.95|4.95	0.65309|0.65309	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);	.|1.063350	.|0.07310	.|N	.|0.875655	D|D	0.93818|0.93818	0.8023|0.8023	N|N	0.11651|0.11651	0.15|0.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.59767	.|0.986;0.982	.|P;P	.|0.58660	.|0.843;0.812	D|D	0.87515|0.87515	0.2442|0.2442	5|10	.|0.48119	.|T	.|0.1	.|.	10.432|10.432	0.44413|0.44413	0.0701:0.1337:0.7962:0.0|0.0701:0.1337:0.7962:0.0	.|.	.|22;448	.|B3KSJ2;Q9Y2G3	.|.;AT11B_HUMAN	K|E	249|448	.|ENSP00000321195:G448E	.|ENSP00000321195:G448E	E|G	+|+	1|2	0|0	ATP11B|ATP11B	184066080|184066080	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.982000|0.982000	0.71751|0.71751	5.737000|5.737000	0.68606|0.68606	1.456000|1.456000	0.47831|0.47831	0.650000|0.650000	0.86243|0.86243	GAA|GGA	ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.373	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	G	NM_014616		182583386	+1	no_errors	ENST00000323116	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP13A1	57130	genome.wustl.edu	37	19	19758021	19758021	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:19758021C>T	ENST00000357324.6	-	22	3048	c.3022G>A	c.(3022-3024)Gag>Aag	p.E1008K	ATP13A1_ENST00000291503.5_Missense_Mutation_p.E890K	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1008						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E1008K(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTGACTCCCTCCAGGTAGAGG	0.622																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												1	Substitution - Missense(1)	cervix(1)											85.0	94.0	91.0					19																	19758021		2203	4300	6503	SO:0001583	missense	57130			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3022G>A	19.37:g.19758021C>T	ENSP00000349877:p.Glu1008Lys		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	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.E1008K	ENST00000357324.6	37	c.3022	CCDS32970.2	19	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154016	0.57259	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.30182	1.54;1.54	4.75	3.72	0.42706	.	0.050537	0.85682	D	0.000000	T	0.20901	0.0503	L	0.33245	0.995	0.58432	D	0.999998	B;B	0.12013	0.005;0.001	B;B	0.14578	0.011;0.003	T	0.04825	-1.0924	10	0.14252	T	0.57	-21.7138	10.7477	0.46189	0.0:0.9063:0.0:0.0937	.	1008;890	Q9HD20;Q9HD20-2	AT131_HUMAN;.	K	890;1008	ENSP00000291503:E890K;ENSP00000349877:E1008K	ENSP00000291503:E890K	E	-	1	0	ATP13A1	19619021	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	5.679000	0.68160	1.015000	0.39444	-0.142000	0.14014	GAG	ATP13A1	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.622	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	C	NM_020410		19758021	-1	no_errors	ENST00000357324	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP2B2	491	genome.wustl.edu	37	3	10370484	10370484	+	3'UTR	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:10370484G>A	ENST00000352432.4	-	0	3815				ATP2B2_ENST00000383800.4_3'UTR|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000360273.2_3'UTR|ATP2B2_ENST00000343816.4_3'UTR|MIR378B_ENST00000578876.1_RNA|ATP2B2_ENST00000397077.1_3'UTR			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2						auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCGGGCAGGCGAGAGGGTCCT	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)												0													64.0	58.0	60.0					3																	10370484		2203	4300	6503	SO:0001624	3_prime_UTR_variant	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.*14C>T	3.37:g.10370484G>A			O00766|Q12994|Q16818	RNA	SNP	-	NULL	ENST00000352432.4	37	NULL	CCDS33701.1	3																																																																																			ATP2B2	-	-		0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	G	NM_001683		10370484	-1	no_errors	ENST00000467702	ensembl	human	known	70_37	rna	SNP	0.553	A
ATP2B2	491	genome.wustl.edu	37	3	10384497	10384497	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:10384497C>T	ENST00000352432.4	-	18	2925	c.2856G>A	c.(2854-2856)atG>atA	p.M952I	ATP2B2_ENST00000383800.4_Missense_Mutation_p.M907I|ATP2B2_ENST00000360273.2_Missense_Mutation_p.M952I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.M938I|ATP2B2_ENST00000397077.1_Missense_Mutation_p.M907I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	952					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.M952I(1)|p.M907I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGATGTTCTTCATCATGGTCC	0.637																																					Ovarian(125;1619 1709 15675 19819 38835)												2	Substitution - Missense(2)	cervix(2)											161.0	127.0	139.0					3																	10384497		2203	4300	6503	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2856G>A	3.37:g.10384497C>T	ENSP00000324172:p.Met952Ile		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.M952I	ENST00000352432.4	37	c.2856	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	c	12.70	2.016467	0.35606	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	4.0	4.0	0.46444	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.089367	0.85682	D	0.000000	D	0.83188	0.5200	L	0.42686	1.345	0.47905	D	0.999541	B;B;B	0.19706	0.038;0.005;0.012	B;B;B	0.19666	0.013;0.026;0.019	T	0.80441	-0.1381	10	0.39692	T	0.17	-40.4095	16.456	0.84012	0.0:1.0:0.0:0.0	.	887;919;952	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	I	952;907;907;952;938;887;141;808;952	ENSP00000324172:M952I;ENSP00000373311:M907I;ENSP00000380267:M907I;ENSP00000353414:M952I;ENSP00000344677:M938I;ENSP00000414854:M808I	ENSP00000342954:M952I	M	-	3	0	ATP2B2	10359497	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.016000	0.29976	1.935000	0.56089	0.306000	0.20318	ATG	ATP2B2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA		0.637	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	C	NM_001683		10384497	-1	no_errors	ENST00000352432	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP1B3	483	genome.wustl.edu	37	3	141626075	141626075	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:141626075C>T	ENST00000286371.3	+	3	493	c.305C>T	c.(304-306)tCg>tTg	p.S102L	ATP1B3_ENST00000539728.1_Missense_Mutation_p.S88L|ATP1B3_ENST00000462082.1_Intron	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	102					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.S102L(1)		cervix(1)|endometrium(1)|lung(2)	4						GATCCAACTTCGTATGCAGGG	0.343																																																	1	Substitution - Missense(1)	cervix(1)											90.0	90.0	90.0					3																	141626075		2203	4300	6503	SO:0001583	missense	483			BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.305C>T	3.37:g.141626075C>T	ENSP00000286371:p.Ser102Leu		B7Z1N7	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.S102L	ENST00000286371.3	37	c.305	CCDS3121.1	3	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338630	0.81911	.	.	ENSG00000069849	ENST00000475483;ENST00000286371;ENST00000539728;ENST00000495216	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.52	5.52	0.82312	.	0.429185	0.27821	N	0.017704	T	0.57873	0.2083	M	0.92507	3.315	0.43622	D	0.996006	D;D	0.58970	0.984;0.969	P;P	0.47075	0.536;0.536	T	0.71017	-0.4714	10	0.72032	D	0.01	-6.0312	17.9788	0.89134	0.0:1.0:0.0:0.0	.	88;102	D3DNF9;P54709	.;AT1B3_HUMAN	L	45;102;88;88	ENSP00000417522:S45L;ENSP00000286371:S102L;ENSP00000440307:S88L;ENSP00000419962:S88L	ENSP00000286371:S102L	S	+	2	0	ATP1B3	143108765	0.118000	0.22208	0.152000	0.22495	0.033000	0.12548	3.157000	0.50716	2.767000	0.95098	0.655000	0.94253	TCG	ATP1B3	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu		0.343	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1B3	HGNC	protein_coding	OTTHUMT00000353218.1	C	NM_001679		141626075	+1	no_errors	ENST00000286371	ensembl	human	known	70_37	missense	SNP	0.787	T
ATP5J	522	genome.wustl.edu	37	21	27102096	27102096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:27102096G>A	ENST00000400093.3	-	2	701	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	ATP5J_ENST00000284971.3_Nonsense_Mutation_p.Q4*|ATP5J_ENST00000400094.1_Nonsense_Mutation_p.Q4*|ATP5J_ENST00000457143.2_Nonsense_Mutation_p.Q12*|ATP5J_ENST00000400087.3_Nonsense_Mutation_p.Q4*|ATP5J_ENST00000400090.3_Nonsense_Mutation_p.Q4*|ATP5J_ENST00000400099.1_Nonsense_Mutation_p.Q4*	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	4					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.Q4*(2)		cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						AAGAGCCTCTGAAGAATCATG	0.383																																					Colon(101;404 1513 9184 32221 46005)												2	Substitution - Nonsense(2)	cervix(2)											44.0	44.0	44.0					21																	27102096		2203	4300	6503	SO:0001587	stop_gained	522			M37104	CCDS13574.1, CCDS46637.1	21q21.1	2012-10-12	2010-06-11		ENSG00000154723	ENSG00000154723		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	847	protein-coding gene	gene with protein product	"""coupling factor 6"""	603152	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6"""	ATP5A, ATP5, ATPM		1830479, 1825642	Standard	NM_001685		Approved	CF6	uc002ylt.3	P18859	OTTHUMG00000078442	ENST00000400093.3:c.10C>T	21.37:g.27102096G>A	ENSP00000382965:p.Gln4*		J3KQ83	Nonsense_Mutation	SNP	pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt	p.Q12*	ENST00000400093.3	37	c.34	CCDS13574.1	21	.	.	.	.	.	.	.	.	.	.	G	32	5.152635	0.94645	.	.	ENSG00000154723	ENST00000400099;ENST00000400094;ENST00000284971;ENST00000457143;ENST00000400090;ENST00000400087;ENST00000400093	.	.	.	4.85	3.9	0.45041	.	0.206931	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-12.0512	14.0733	0.64874	0.0:0.0:0.8488:0.1512	.	.	.	.	X	4;4;4;12;4;4;4	.	ENSP00000284971:Q4X	Q	-	1	0	ATP5J	26023967	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.449000	0.66619	2.687000	0.91594	0.563000	0.77884	CAG	ATP5J	-	pfam_ATPase_F0-cplx_f6su_mt		0.383	ATP5J-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP5J	HGNC	protein_coding	OTTHUMT00000171357.1	G	NM_001685		27102096	-1	no_errors	ENST00000457143	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ATP5SL	55101	genome.wustl.edu	37	19	41944235	41944235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:41944235G>A	ENST00000221943.9	-	2	108	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	ATP5SL_ENST00000438807.3_Nonsense_Mutation_p.Q35*|ATP5SL_ENST00000590641.2_Nonsense_Mutation_p.Q41*|ATP5SL_ENST00000417807.3_Nonsense_Mutation_p.Q41*|ATP5SL_ENST00000597457.1_Nonsense_Mutation_p.Q35*|ATP5SL_ENST00000592922.2_Nonsense_Mutation_p.Q35*|ATP5SL_ENST00000589970.1_Nonsense_Mutation_p.Q35*|ATP5SL_ENST00000595425.1_Nonsense_Mutation_p.Q35*|ATP5SL_ENST00000301183.11_Nonsense_Mutation_p.Q41*	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	35						mitochondrion (GO:0005739)		p.Q35*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TTCTTCTTCTGATTGCCCTCT	0.572																																																	1	Substitution - Nonsense(1)	cervix(1)											132.0	117.0	122.0					19																	41944235		2203	4300	6503	SO:0001587	stop_gained	55101			AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.103C>T	19.37:g.41944235G>A	ENSP00000221943:p.Gln35*		B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Nonsense_Mutation	SNP	NULL	p.Q41*	ENST00000221943.9	37	c.121	CCDS33032.1	19	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977269	0.53720	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129	.	.	.	3.37	1.07	0.20283	.	0.289408	0.22293	N	0.061974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-27.0265	7.835	0.29365	0.0:0.0:0.5475:0.4525	.	.	.	.	X	35;35;41;41;111	.	ENSP00000221943:Q35X	Q	-	1	0	ATP5SL	46636075	0.075000	0.21258	0.001000	0.08648	0.139000	0.21198	1.459000	0.35234	0.365000	0.24400	0.655000	0.94253	CAG	ATP5SL	-	NULL		0.572	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5SL	HGNC	protein_coding	OTTHUMT00000460602.1	G	NM_018035		41944235	-1	no_errors	ENST00000417807	ensembl	human	known	70_37	nonsense	SNP	0.001	A
ATP8A1	10396	genome.wustl.edu	37	4	42467017	42467017	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:42467017C>G	ENST00000381668.5	-	26	2632	c.2401G>C	c.(2401-2403)Gat>Cat	p.D801H	ATP8A1_ENST00000264449.10_Missense_Mutation_p.D786H	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	801					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D786H(1)|p.D801H(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTTGCTCCATCACCGATTGCA	0.428																																																	2	Substitution - Missense(2)	cervix(2)											184.0	152.0	163.0					4																	42467017		2203	4300	6503	SO:0001583	missense	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2401G>C	4.37:g.42467017C>G	ENSP00000371084:p.Asp801His		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,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.D801H	ENST00000381668.5	37	c.2401	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612467	0.66672	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.97850	-4.57;-4.57	5.38	4.53	0.55603	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99366	0.9777	H	0.99642	4.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.98027	1.0374	10	0.87932	D	0	.	14.2347	0.65919	0.0:0.9276:0.0:0.0724	.	786;801;793	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	H	801;786	ENSP00000371084:D801H;ENSP00000264449:D786H	ENSP00000264449:D786H	D	-	1	0	ATP8A1	42161774	1.000000	0.71417	0.860000	0.33809	0.582000	0.36321	7.680000	0.84062	1.397000	0.46682	0.585000	0.79938	GAT	ATP8A1	-	superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.428	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	C	NM_006095		42467017	-1	no_errors	ENST00000381668	ensembl	human	known	70_37	missense	SNP	0.999	G
ATRNL1	26033	genome.wustl.edu	37	10	117228797	117228797	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:117228797C>G	ENST00000355044.3	+	24	3738	c.3612C>G	c.(3610-3612)ttC>ttG	p.F1204L	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Missense_Mutation_p.F255L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1204					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.F1204L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACATTACATTCTATGTGTACG	0.303																																																	1	Substitution - Missense(1)	cervix(1)											57.0	62.0	60.0					10																	117228797		2196	4279	6475	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3612C>G	10.37:g.117228797C>G	ENSP00000347152:p.Phe1204Leu		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.F1204L	ENST00000355044.3	37	c.3612	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892084	0.72524	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.46819	0.86;0.86	5.73	2.83	0.33086	.	0.044996	0.85682	D	0.000000	T	0.64249	0.2581	M	0.75777	2.31	0.80722	D	1	D;D	0.69078	0.997;0.982	D;D	0.70716	0.97;0.952	T	0.68202	-0.5471	10	0.72032	D	0.01	-16.0032	10.7824	0.46386	0.0:0.7965:0.0:0.2035	.	255;1204	B4DH41;Q5VV63	.;ATRN1_HUMAN	L	1204;255	ENSP00000347152:F1204L;ENSP00000409624:F255L	ENSP00000347152:F1204L	F	+	3	2	ATRNL1	117218787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.290000	0.33319	1.404000	0.46819	0.585000	0.79938	TTC	ATRNL1	-	NULL		0.303	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	C	XM_049349		117228797	+1	no_errors	ENST00000355044	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM210B	116151	genome.wustl.edu	37	20	54945266	54945266	+	IGR	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:54945266G>A	ENST00000371384.3	+	0	3046				AURKA_ENST00000395911.1_Missense_Mutation_p.S387L|AURKA_ENST00000312783.6_Missense_Mutation_p.S387L|AURKA_ENST00000395915.3_Missense_Mutation_p.S387L|AURKA_ENST00000371356.2_Missense_Mutation_p.S387L|AURKA_ENST00000395914.1_Missense_Mutation_p.S387L|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000347343.2_Missense_Mutation_p.S387L|AURKA_ENST00000395913.3_Missense_Mutation_p.S387L|AURKA_ENST00000395909.4_Missense_Mutation_p.S387L	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)		p.S387L(1)									TGGTTTTGATGAATTTGCTGT	0.473																																																	1	Substitution - Missense(1)	cervix(1)											206.0	179.0	188.0					20																	54945266		2203	4300	6503	SO:0001628	intergenic_variant	6790			AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"""hypothetical protein LOC116151"""		"""chromosome 20 open reading frame 108"""	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945266G>A			B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	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.S387L	ENST00000371384.3	37	c.1160	CCDS13450.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079175	0.76528	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000006	T	0.48642	0.1511	N	0.11845	0.185	0.58432	D	0.999997	B;P;P	0.49635	0.047;0.926;0.722	B;B;B	0.35607	0.026;0.206;0.206	T	0.60037	-0.7341	10	0.59425	D	0.04	-7.4678	19.2213	0.93797	0.0:0.0:1.0:0.0	.	319;387;387	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	L	387	ENSP00000379245:S387L;ENSP00000379250:S387L;ENSP00000216911:S387L;ENSP00000379251:S387L;ENSP00000321591:S387L;ENSP00000360407:S387L;ENSP00000379249:S387L;ENSP00000379247:S387L	ENSP00000321591:S387L	S	-	2	0	AURKA	54378673	1.000000	0.71417	0.159000	0.22649	0.960000	0.62799	8.397000	0.90193	2.615000	0.88500	0.650000	0.86243	TCA	AURKA	-	NULL		0.473	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079800.2	G	NM_080821		54945266	-1	no_errors	ENST00000312783	ensembl	human	known	70_37	missense	SNP	0.975	A
B2M	567	genome.wustl.edu	37	15	45007833	45007833	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:45007833G>A	ENST00000558401.1	+	2	350	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.E94K|B2M_ENST00000544417.1_Missense_Mutation_p.E94K	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	94	Ig-like C1-type.				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 exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|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 T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.E94K(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CACCCCCACTGAAAAAGATGA	0.423																																																	1	Substitution - Missense(1)	cervix(1)											138.0	134.0	135.0					15																	45007833		2198	4298	6496	SO:0001583	missense	567			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.280G>A	15.37:g.45007833G>A	ENSP00000452780:p.Glu94Lys		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	p.E94K	ENST00000558401.1	37	c.280	CCDS10113.1	15	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657839	0.29425	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.09817	2.94	5.82	0.565	0.17309	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.312150	0.00976	N	0.003310	T	0.10680	0.0261	L	0.43554	1.36	0.09310	N	1	B;B	0.25390	0.125;0.004	B;B	0.26969	0.075;0.009	T	0.28332	-1.0047	10	0.25106	T	0.35	.	4.1273	0.10133	0.3281:0.0:0.5198:0.1521	.	94;94	F5H6I0;P61769	.;B2MG_HUMAN	K	94	ENSP00000437604:E94K	ENSP00000340858:E94K	E	+	1	0	B2M	42795125	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.248000	0.18198	0.390000	0.25115	-0.150000	0.13652	GAA	B2M	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.423	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2	G	NM_004048		45007833	+1	no_errors	ENST00000544417	ensembl	human	known	70_37	missense	SNP	0.000	A
B3GALTL	145173	genome.wustl.edu	37	13	31858829	31858829	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:31858829G>A	ENST00000343307.4	+	11	1044	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	299					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.E299K(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AAGTCTCATTGAATACTATAG	0.373																																																	1	Substitution - Missense(1)	cervix(1)											126.0	122.0	124.0					13																	31858829		2203	4300	6503	SO:0001583	missense	145173			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.895G>A	13.37:g.31858829G>A	ENSP00000343002:p.Glu299Lys		A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	pfam_Fringe-like	p.E299K	ENST00000343307.4	37	c.895	CCDS9341.1	13	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421475	0.62622	.	.	ENSG00000187676	ENST00000343307	T	0.62941	-0.01	5.78	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	M	0.73319	2.225	0.80722	D	1	D	0.64830	0.994	D	0.67725	0.953	T	0.71580	-0.4550	10	0.06236	T	0.91	-30.6237	13.8797	0.63676	0.0746:0.0:0.9254:0.0	.	299	Q6Y288	B3GLT_HUMAN	K	299	ENSP00000343002:E299K	ENSP00000343002:E299K	E	+	1	0	B3GALTL	30756829	1.000000	0.71417	0.690000	0.30148	0.828000	0.46876	7.612000	0.82975	1.456000	0.47831	0.591000	0.81541	GAA	B3GALTL	-	pfam_Fringe-like		0.373	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALTL	HGNC	protein_coding	OTTHUMT00000044396.3	G	NM_194318		31858829	+1	no_errors	ENST00000343307	ensembl	human	known	70_37	missense	SNP	0.989	A
B4GALT3	8703	genome.wustl.edu	37	1	161142095	161142095	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:161142095G>A	ENST00000319769.5	-	7	1052	c.830C>T	c.(829-831)tCt>tTt	p.S277F	B4GALT3_ENST00000367998.1_Missense_Mutation_p.S277F|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	277					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.S277F(1)		cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GGGGGGCCGAGAGATCTTCAT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											79.0	73.0	75.0					1																	161142095		2203	4300	6503	SO:0001583	missense	8703			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.830C>T	1.37:g.161142095G>A	ENSP00000320965:p.Ser277Phe		D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.S277F	ENST00000319769.5	37	c.830	CCDS1222.1	1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839091	0.71373	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	T;T	0.33654	1.4;1.4	5.28	5.28	0.74379	.	0.354608	0.33144	N	0.005221	T	0.31104	0.0786	L	0.48260	1.515	0.38956	D	0.958447	B	0.29909	0.261	B	0.40101	0.319	T	0.15954	-1.0419	10	0.52906	T	0.07	.	17.8577	0.88771	0.0:0.0:1.0:0.0	.	277	O60512	B4GT3_HUMAN	F	277;254;277;277	ENSP00000320965:S277F;ENSP00000356977:S277F	ENSP00000320965:S277F	S	-	2	0	B4GALT3	159408719	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	5.903000	0.69877	2.746000	0.94184	0.655000	0.94253	TCT	B4GALT3	-	pfam_Galactosyl_T_2_met		0.507	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT3	HGNC	protein_coding	OTTHUMT00000083054.1	G	NM_003779		161142095	-1	no_errors	ENST00000319769	ensembl	human	known	70_37	missense	SNP	1.000	A
BAZ1B	9031	genome.wustl.edu	37	7	72892242	72892242	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:72892242C>G	ENST00000339594.4	-	7	1887	c.1549G>C	c.(1549-1551)Gaa>Caa	p.E517Q	BAZ1B_ENST00000404251.1_Missense_Mutation_p.E517Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	517	Lys-rich.				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)	p.E517Q(1)		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)				CTTCGCAATTCTTCTGGGAGA	0.428																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												1	Substitution - Missense(1)	cervix(1)											104.0	108.0	106.0					7																	72892242		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.1549G>C	7.37:g.72892242C>G	ENSP00000342434:p.Glu517Gln		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.E517Q	ENST00000339594.4	37	c.1549	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795698	0.70452	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59638	0.25;0.25	5.51	5.51	0.81932	.	0.045486	0.85682	D	0.000000	T	0.51058	0.1652	L	0.29908	0.895	0.52501	D	0.999952	P	0.46912	0.886	B	0.42798	0.398	T	0.53034	-0.8495	10	0.45353	T	0.12	-26.9871	18.4107	0.90549	0.0:1.0:0.0:0.0	.	517	Q9UIG0	BAZ1B_HUMAN	Q	517	ENSP00000342434:E517Q;ENSP00000385442:E517Q	ENSP00000342434:E517Q	E	-	1	0	BAZ1B	72530178	1.000000	0.71417	0.856000	0.33681	0.999000	0.98932	7.240000	0.78192	2.593000	0.87608	0.655000	0.94253	GAA	BAZ1B	-	superfamily_ARM-type_fold		0.428	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	C	NM_032408		72892242	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	missense	SNP	1.000	G
BAZ2A	11176	genome.wustl.edu	37	12	56994157	56994157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56994157G>A	ENST00000551812.1	-	24	4919	c.4726C>T	c.(4726-4728)Cag>Tag	p.Q1576*	BAZ2A_ENST00000179765.5_Nonsense_Mutation_p.Q1544*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.Q1574*|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.Q1546*|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1576					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q1576*(2)|p.Q1612*(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTTTTACGCTGAGGTGCCAGT	0.617																																																	3	Substitution - Nonsense(3)	cervix(3)											55.0	61.0	59.0					12																	56994157		2076	4198	6274	SO:0001587	stop_gained	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4726C>T	12.37:g.56994157G>A	ENSP00000446880:p.Gln1576*		B3KN66|O00536|O15030|Q68DI8|Q96H26	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.Q1576*	ENST00000551812.1	37	c.4726	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	43	10.223728	0.99362	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	.	.	.	5.32	4.42	0.53409	.	0.406539	0.27645	N	0.018441	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-3.6433	8.9477	0.35769	0.0786:0.1516:0.7698:0.0	.	.	.	.	X	1546;1544;1576;508;1574	.	ENSP00000179765:Q1544X	Q	-	1	0	BAZ2A	55280424	0.391000	0.25221	0.999000	0.59377	0.884000	0.51177	1.887000	0.39698	1.616000	0.50265	0.655000	0.94253	CAG	BAZ2A	-	NULL		0.617	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	G	NM_013449		56994157	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	nonsense	SNP	0.997	A
BAZ2A	11176	genome.wustl.edu	37	12	56995142	56995142	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56995142G>C	ENST00000551812.1	-	21	4315	c.4122C>G	c.(4120-4122)ttC>ttG	p.F1374L	BAZ2A_ENST00000179765.5_Missense_Mutation_p.F1342L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.F1372L|BAZ2A_ENST00000379441.3_Missense_Mutation_p.F1344L|BAZ2A_ENST00000553222.1_5'UTR	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1374	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.F1374L(2)|p.F1410L(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCGTGGAAGAGAACTGCACTG	0.517																																																	3	Substitution - Missense(3)	cervix(3)											39.0	38.0	38.0					12																	56995142		1961	4133	6094	SO:0001583	missense	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4122C>G	12.37:g.56995142G>C	ENSP00000446880:p.Phe1374Leu		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.F1374L	ENST00000551812.1	37	c.4122	CCDS44924.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.265|2.265	-0.368283|-0.368283	0.05069|0.05069	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884|ENST00000547453	T;T;T;T;T|.	0.69175|.	-0.13;-0.13;-0.14;-0.38;-0.14|.	5.34|5.34	1.23|1.23	0.21249|0.21249	.|.	0.709180|.	0.13835|.	N|.	0.359437|.	T|T	0.09113|0.09113	0.0225|0.0225	N|N	0.01352|0.01352	-0.895|-0.895	0.24466|0.24466	N|N	0.99442|0.99442	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.35400|0.35400	-0.9790|-0.9790	10|5	0.08599|.	T|.	0.76|.	-15.8076|-15.8076	7.7637|7.7637	0.28968|0.28968	0.1435:0.2494:0.6071:0.0|0.1435:0.2494:0.6071:0.0	.|.	1372;1374;1374;1347|.	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2|.	.;.;BAZ2A_HUMAN;.|.	L|V	1344;1342;1374;310;1372|43	ENSP00000368754:F1344L;ENSP00000179765:F1342L;ENSP00000446880:F1374L;ENSP00000448760:F310L;ENSP00000447941:F1372L|.	ENSP00000179765:F1342L|.	F|L	-|-	3|1	2|0	BAZ2A|BAZ2A	55281409|55281409	0.949000|0.949000	0.32298|0.32298	0.238000|0.238000	0.24106|0.24106	0.981000|0.981000	0.71138|0.71138	0.565000|0.565000	0.23578|0.23578	0.019000|0.019000	0.15079|0.15079	0.655000|0.655000	0.94253|0.94253	TTC|CTC	BAZ2A	-	NULL		0.517	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	G	NM_013449		56995142	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	missense	SNP	0.979	C
BAZ2A	11176	genome.wustl.edu	37	12	56995491	56995491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56995491C>A	ENST00000551812.1	-	20	4109	c.3916G>T	c.(3916-3918)Gag>Tag	p.E1306*	BAZ2A_ENST00000179765.5_Nonsense_Mutation_p.E1274*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.E1304*|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.E1276*|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1306	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E1306*(2)|p.E1342*(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTGGCTCCTCCGGGGGTTGT	0.587																																																	3	Substitution - Nonsense(3)	cervix(3)											147.0	154.0	152.0					12																	56995491		2030	4189	6219	SO:0001587	stop_gained	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3916G>T	12.37:g.56995491C>A	ENSP00000446880:p.Glu1306*		B3KN66|O00536|O15030|Q68DI8|Q96H26	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1306*	ENST00000551812.1	37	c.3916	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	42	9.297642	0.99128	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	.	.	.	5.33	5.33	0.75918	.	0.169429	0.45606	D	0.000342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	16.3139	0.82906	0.0:1.0:0.0:0.0	.	.	.	.	X	1276;1274;1306;242;1304	.	ENSP00000179765:E1274X	E	-	1	0	BAZ2A	55281758	0.993000	0.37304	0.960000	0.40013	0.444000	0.32077	3.333000	0.52090	2.668000	0.90789	0.655000	0.94253	GAG	BAZ2A	-	NULL		0.587	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	C	NM_013449		56995491	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	nonsense	SNP	0.998	A
BAZ2B	29994	genome.wustl.edu	37	2	160193581	160193581	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:160193581C>G	ENST00000392783.2	-	33	6163	c.5668G>C	c.(5668-5670)Gag>Cag	p.E1890Q	BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1790Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1854Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1856Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1890					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1890Q(1)		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						GCAATATCCTCTTCAATTCTG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											116.0	109.0	112.0					2																	160193581		1860	4105	5965	SO:0001583	missense	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.5668G>C	2.37:g.160193581C>G	ENSP00000376534:p.Glu1890Gln		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1890Q	ENST00000392783.2	37	c.5668	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457495	0.43634	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	T;T;T;T	0.60299	0.27;0.27;0.28;0.2	5.71	5.71	0.89125	.	0.000000	0.37348	U	0.002124	T	0.74997	0.3790	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.69142	0.892;0.962	T	0.71935	-0.4442	10	0.41790	T	0.15	-14.4634	20.2245	0.98337	0.0:1.0:0.0:0.0	.	1854;1890	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	Q	1854;1890;1856;1790;143	ENSP00000376533:E1854Q;ENSP00000376534:E1890Q;ENSP00000348087:E1856Q;ENSP00000339670:E1790Q	ENSP00000339670:E1790Q	E	-	1	0	BAZ2B	159901827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.861000	0.98227	0.650000	0.86243	GAG	BAZ2B	-	NULL		0.418	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	C			160193581	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	missense	SNP	1.000	G
BCAN	63827	genome.wustl.edu	37	1	156622655	156622655	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:156622655G>T	ENST00000329117.5	+	8	2249	c.1913G>T	c.(1912-1914)cGa>cTa	p.R638L	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R638L	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	638					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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R638L(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCGCCAGCCGAGGTGGAGTG	0.617																																																	2	Substitution - Missense(2)	cervix(2)											71.0	58.0	62.0					1																	156622655		2145	4231	6376	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1913G>T	1.37:g.156622655G>T	ENSP00000331210:p.Arg638Leu		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.R638L	ENST00000329117.5	37	c.1913	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684104	0.29872	.	.	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.14266	2.52;3.38	4.3	-2.75	0.05914	.	1.592360	0.04786	N	0.430646	T	0.01387	0.0045	N	0.08118	0	0.09310	N	0.99999	B;B	0.30914	0.002;0.3	B;B	0.29663	0.001;0.105	T	0.39742	-0.9599	10	0.11182	T	0.66	3.1281	5.7602	0.18196	0.5525:0.0:0.3086:0.1389	.	638;638	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	L	638	ENSP00000331210:R638L;ENSP00000354925:R638L	ENSP00000331210:R638L	R	+	2	0	BCAN	154889279	0.000000	0.05858	0.027000	0.17364	0.989000	0.77384	-0.795000	0.04580	-0.823000	0.04301	0.455000	0.32223	CGA	BCAN	-	NULL		0.617	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	G	NM_021948		156622655	+1	no_errors	ENST00000329117	ensembl	human	known	70_37	missense	SNP	0.039	T
BCAP29	55973	genome.wustl.edu	37	7	107240940	107240940	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:107240940G>C	ENST00000005259.4	+	6	918	c.579G>C	c.(577-579)aaG>aaC	p.K193N	BCAP29_ENST00000445771.2_Missense_Mutation_p.K193N|BCAP29_ENST00000379119.2_Missense_Mutation_p.K193N|BCAP29_ENST00000494086.1_3'UTR|snoU109_ENST00000459477.1_RNA|BCAP29_ENST00000379121.2_Missense_Mutation_p.K99N|BCAP29_ENST00000379117.2_Missense_Mutation_p.K193N|BCAP29_ENST00000465919.1_Missense_Mutation_p.K99N	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	193					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.K193N(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AATTAAGGAAGACTTCAGATG	0.318																																																	1	Substitution - Missense(1)	cervix(1)											65.0	67.0	66.0					7																	107240940		2203	4298	6501	SO:0001583	missense	55973				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.579G>C	7.37:g.107240940G>C	ENSP00000005259:p.Lys193Asn		G5E9L4|O95003	Missense_Mutation	SNP	pfam_Bap31	p.K193N	ENST00000005259.4	37	c.579	CCDS34731.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.14|11.14	1.552108|1.552108	0.27739|0.27739	.|.	.|.	ENSG00000075790|ENSG00000075790	ENST00000436699|ENST00000005259;ENST00000465919;ENST00000445771;ENST00000479917;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121	.|T	.|0.48522	.|0.81	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.349613	.|0.35708	.|N	.|0.003028	T|T	0.55016|0.55016	0.1894|0.1894	M|M	0.64404|0.64404	1.975|1.975	0.37296|0.37296	D|D	0.908483|0.908483	.|D;P;D	.|0.65815	.|0.985;0.93;0.995	.|P;P;P	.|0.57244	.|0.721;0.612;0.816	T|T	0.57464|0.57464	-0.7807|-0.7807	5|10	.|0.23891	.|T	.|0.37	-34.1918|-34.1918	8.4686|8.4686	0.32971|0.32971	0.1664:0.0:0.8336:0.0|0.1664:0.0:0.8336:0.0	.|.	.|193;193;193	.|G5E9L4;C9JTE9;Q9UHQ4	.|.;.;BAP29_HUMAN	H|N	107|193;99;193;193;193;193;193;150;99	.|ENSP00000368416:K99N	.|ENSP00000005259:K193N	D|K	+|+	1|3	0|2	BCAP29|BCAP29	107028176|107028176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.203000|0.203000	0.24098|0.24098	1.105000|1.105000	0.31086|0.31086	2.548000|2.548000	0.85928|0.85928	0.655000|0.655000	0.94253|0.94253	GAC|AAG	BCAP29	-	pfam_Bap31		0.318	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	HGNC	protein_coding	OTTHUMT00000337011.2	G	NM_018844		107240940	+1	no_errors	ENST00000379119	ensembl	human	known	70_37	missense	SNP	1.000	C
BCL9	607	genome.wustl.edu	37	1	147090719	147090719	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:147090719G>C	ENST00000234739.3	+	8	1498	c.758G>C	c.(757-759)aGa>aCa	p.R253T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	253	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.R253T(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAGAATACCAGACTGCAGCCA	0.582			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	1	Substitution - Missense(1)	cervix(1)											85.0	88.0	87.0					1																	147090719		2203	4300	6503	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.758G>C	1.37:g.147090719G>C	ENSP00000234739:p.Arg253Thr		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.R253T	ENST00000234739.3	37	c.758	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496767	0.26861	.	.	ENSG00000116128	ENST00000234739	T	0.62941	-0.01	5.46	4.48	0.54585	.	0.045635	0.85682	D	0.000000	T	0.19287	0.0463	N	0.08118	0	0.35573	D	0.805653	B;B	0.27559	0.181;0.181	B;B	0.21151	0.033;0.033	T	0.10941	-1.0608	10	0.34782	T	0.22	-15.3606	4.514	0.11926	0.2689:0.0:0.7311:0.0	.	253;253	Q1JQ81;O00512	.;BCL9_HUMAN	T	253	ENSP00000234739:R253T	ENSP00000234739:R253T	R	+	2	0	BCL9	145557343	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	5.442000	0.66575	2.840000	0.97914	0.655000	0.94253	AGA	BCL9	-	NULL		0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	G	NM_004326		147090719	+1	no_errors	ENST00000234739	ensembl	human	known	70_37	missense	SNP	1.000	C
BCL9L	283149	genome.wustl.edu	37	11	118772426	118772426	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:118772426C>T	ENST00000334801.3	-	6	2990	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	676					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.E676K(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGCAGCTCCTCACGGACCCGG	0.652																																																	2	Substitution - Missense(2)	cervix(2)											35.0	35.0	35.0					11																	118772426		2200	4295	6495	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2026G>A	11.37:g.118772426C>T	ENSP00000335320:p.Glu676Lys		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.E676K	ENST00000334801.3	37	c.2026	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179241	0.78564	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.69806	-0.43	4.67	4.67	0.58626	.	0.000000	0.44285	D	0.000471	T	0.79516	0.4459	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.81745	-0.0792	10	0.72032	D	0.01	-21.0803	17.3498	0.87320	0.0:1.0:0.0:0.0	.	671;676	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	K	676;639;676;676	ENSP00000335320:E676K	ENSP00000335320:E676K	E	-	1	0	BCL9L	118277636	1.000000	0.71417	0.952000	0.39060	0.503000	0.33858	7.610000	0.82949	2.419000	0.82065	0.313000	0.20887	GAG	BCL9L	-	NULL		0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	C	NM_182557		118772426	-1	no_errors	ENST00000334801	ensembl	human	known	70_37	missense	SNP	1.000	T
BCOR	54880	genome.wustl.edu	37	X	39932327	39932327	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:39932327G>T	ENST00000378444.4	-	4	2500	c.2272C>A	c.(2272-2274)Cca>Aca	p.P758T	BCOR_ENST00000378455.4_Missense_Mutation_p.P758T|BCOR_ENST00000342274.4_Missense_Mutation_p.P758T|BCOR_ENST00000397354.3_Missense_Mutation_p.P758T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	758					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P758T(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGGAGGGTTGGGTCCTCGTAA	0.522			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		1	Substitution - Missense(1)	cervix(1)											116.0	110.0	112.0					X																	39932327		2202	4300	6502	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2272C>A	X.37:g.39932327G>T	ENSP00000367705:p.Pro758Thr		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P758T	ENST00000378444.4	37	c.2272	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203026	0.58234	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.49	3.67	0.42095	.	.	.	.	.	T	0.19846	0.0477	L	0.27053	0.805	0.36761	D	0.883298	P;P;P;P	0.52061	0.95;0.9;0.917;0.9	P;P;P;P	0.50896	0.653;0.493;0.451;0.493	T	0.12426	-1.0548	9	0.72032	D	0.01	-6.5645	6.4766	0.22039	0.1578:0.1501:0.6921:0.0	.	758;758;758;758	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	758;758;758;758;758;165	ENSP00000367716:P758T;ENSP00000380512:P758T;ENSP00000367705:P758T;ENSP00000345923:P758T;ENSP00000384485:P758T	ENSP00000345923:P758T	P	-	1	0	BCOR	39817271	0.997000	0.39634	0.981000	0.43875	0.679000	0.39708	1.412000	0.34714	1.034000	0.39945	0.513000	0.50165	CCA	BCOR	-	NULL		0.522	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39932327	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	missense	SNP	0.999	T
BCR	613	genome.wustl.edu	37	22	23603578	23603578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:23603578C>T	ENST00000305877.8	+	4	2354	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*	RN7SL263P_ENST00000467969.2_RNA|BCR_ENST00000359540.3_Nonsense_Mutation_p.Q535*	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	535	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q535*(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CACCACCTCTCAGCCGGTGCT	0.567			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	1	Substitution - Nonsense(1)	cervix(1)											100.0	105.0	103.0					22																	23603578		2203	4300	6503	SO:0001587	stop_gained	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1603C>T	22.37:g.23603578C>T	ENSP00000303507:p.Gln535*		P78501|Q12842|Q4LE80|Q6NZI3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.Q535*	ENST00000305877.8	37	c.1603	CCDS13806.1	22	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600091	0.87055	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149;ENST00000427791	.	.	.	5.35	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.7479	0.69501	0.1457:0.8543:0.0:0.0	.	.	.	.	X	535;535;200;55	.	ENSP00000303507:Q535X	Q	+	1	0	BCR	21933578	1.000000	0.71417	0.993000	0.49108	0.944000	0.59088	7.519000	0.81809	1.367000	0.46095	0.655000	0.94253	CAG	BCR	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.567	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	C	NM_004327		23603578	+1	no_errors	ENST00000305877	ensembl	human	known	70_37	nonsense	SNP	0.999	T
BDP1	55814	genome.wustl.edu	37	5	70837407	70837407	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:70837407C>G	ENST00000358731.4	+	29	6412	c.6149C>G	c.(6148-6150)tCt>tGt	p.S2050C	BDP1_ENST00000380675.2_Missense_Mutation_p.S186C	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2050					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S2050C(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTACTACATCTCCTGCATCA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											110.0	105.0	106.0					5																	70837407		1843	4087	5930	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6149C>G	5.37:g.70837407C>G	ENSP00000351575:p.Ser2050Cys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.S2050C	ENST00000358731.4	37	c.6149	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	C	8.734	0.917376	0.17982	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.53640	3.46;0.61	5.81	2.6	0.31112	.	0.636070	0.15108	N	0.280145	T	0.59473	0.2196	M	0.64997	1.995	0.09310	N	1	B;D	0.76494	0.056;0.999	B;D	0.69479	0.044;0.964	T	0.45687	-0.9244	10	0.72032	D	0.01	.	6.3063	0.21141	0.0:0.6568:0.1578:0.1854	.	2050;2050	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	C	2050;1598;186;186	ENSP00000351575:S2050C;ENSP00000370050:S186C	ENSP00000351575:S2050C	S	+	2	0	BDP1	70873163	0.000000	0.05858	0.004000	0.12327	0.052000	0.14988	0.362000	0.20284	0.791000	0.33826	-0.384000	0.06662	TCT	BDP1	-	NULL		0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	C	NM_018429		70837407	+1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.000	G
BEGAIN	57596	genome.wustl.edu	37	14	101005433	101005433	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:101005433G>A	ENST00000355173.2	-	7	726	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	BEGAIN_ENST00000443071.2_Missense_Mutation_p.R219W|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Missense_Mutation_p.R155W	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	219						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.R219W(1)		cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TAGGGGGGCCGCGGGCCTGGT	0.716																																					NSCLC(159;1889 2010 9965 27479 40101)												1	Substitution - Missense(1)	cervix(1)											16.0	21.0	19.0					14																	101005433		2203	4298	6501	SO:0001583	missense	57596			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.655C>T	14.37:g.101005433G>A	ENSP00000347301:p.Arg219Trp		Q9NPU3|Q9P282	Missense_Mutation	SNP	superfamily_Prefoldin	p.R219W	ENST00000355173.2	37	c.655	CCDS9962.1	14	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379375	0.24944	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000554356	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	4.27	2.26	0.28386	.	0.280267	0.34362	N	0.004029	T	0.47395	0.1443	M	0.68952	2.095	0.31677	N	0.643586	D	0.64830	0.994	P	0.46049	0.502	T	0.58411	-0.7641	10	0.66056	D	0.02	.	2.4426	0.04498	0.1027:0.134:0.4285:0.3348	.	219	Q9BUH8	BEGIN_HUMAN	W	219;155;219;231;219;155	ENSP00000347301:R219W;ENSP00000451380:R155W;ENSP00000411124:R219W;ENSP00000451397:R231W;ENSP00000452157:R219W;ENSP00000452607:R155W	ENSP00000347301:R219W	R	-	1	2	BEGAIN	100075186	0.989000	0.36119	0.025000	0.17156	0.008000	0.06430	3.435000	0.52849	0.777000	0.33496	0.462000	0.41574	CGG	BEGAIN	-	NULL		0.716	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1	G	NM_020836		101005433	-1	no_errors	ENST00000355173	ensembl	human	known	70_37	missense	SNP	0.229	A
BEND4	389206	genome.wustl.edu	37	4	42145723	42145723	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:42145723G>A	ENST00000502486.1	-	3	1355	c.776C>T	c.(775-777)tCg>tTg	p.S259L	BEND4_ENST00000504360.1_Missense_Mutation_p.S255L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	259								p.S255L(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AAAGCTTCCCGAGAGCAGGTA	0.468																																																	1	Substitution - Missense(1)	cervix(1)											92.0	93.0	93.0					4																	42145723		1901	4115	6016	SO:0001583	missense	389206			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.776C>T	4.37:g.42145723G>A	ENSP00000421169:p.Ser259Leu		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	pfam_BEN_domain	p.S259L	ENST00000502486.1	37	c.776	CCDS47048.1	4	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040121	0.93630	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.52	5.52	0.82312	.	0.065131	0.64402	D	0.000005	T	0.49423	0.1556	N	0.24115	0.695	0.80722	D	1	D;D;D	0.59767	0.986;0.976;0.986	P;B;P	0.47626	0.552;0.349;0.552	T	0.55742	-0.8093	9	0.87932	D	0	-16.4146	19.4558	0.94889	0.0:0.0:1.0:0.0	.	181;259;259	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	L	130;259;255	.	ENSP00000412495:S130L	S	-	2	0	BEND4	41840480	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	9.229000	0.95273	2.611000	0.88343	0.655000	0.94253	TCG	BEND4	-	NULL		0.468	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	HGNC	protein_coding	OTTHUMT00000360975.2	G	NM_207406		42145723	-1	no_errors	ENST00000502486	ensembl	human	known	70_37	missense	SNP	1.000	A
BHLHE40	8553	genome.wustl.edu	37	3	5025226	5025226	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:5025226C>G	ENST00000256495.3	+	5	1691	c.1088C>G	c.(1087-1089)tCt>tGt	p.S363C		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	363					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S363C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GCAGCCCTCTCTAGCTTCATG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											146.0	137.0	140.0					3																	5025226		2203	4300	6503	SO:0001583	missense	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1088C>G	3.37:g.5025226C>G	ENSP00000256495:p.Ser363Cys		Q96TD3	Missense_Mutation	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.S363C	ENST00000256495.3	37	c.1088	CCDS2565.1	3	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011798	0.35511	.	.	ENSG00000134107	ENST00000256495	D	0.83673	-1.75	5.19	1.2	0.21068	.	0.760125	0.12087	N	0.500756	T	0.79052	0.4381	L	0.39898	1.24	0.18873	N	0.999981	P	0.40619	0.724	B	0.39119	0.291	T	0.68161	-0.5482	10	0.87932	D	0	.	17.4376	0.87557	0.0:0.5198:0.4802:0.0	.	363	O14503	BHE40_HUMAN	C	363	ENSP00000256495:S363C	ENSP00000256495:S363C	S	+	2	0	BHLHE40	5000226	0.835000	0.29415	0.738000	0.30950	0.418000	0.31294	2.140000	0.42159	-0.066000	0.12998	-0.165000	0.13383	TCT	BHLHE40	-	NULL		0.592	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE40	HGNC	protein_coding	OTTHUMT00000239244.2	C	NM_003670		5025226	+1	no_errors	ENST00000256495	ensembl	human	known	70_37	missense	SNP	0.124	G
BHLHE40	8553	genome.wustl.edu	37	3	5025281	5025281	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:5025281C>T	ENST00000256495.3	+	5	1746	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	381					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L381L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCCAGAGACTCCCTTCTCCCT	0.547																																																	1	Substitution - coding silent(1)	cervix(1)											145.0	142.0	143.0					3																	5025281		2203	4300	6503	SO:0001819	synonymous_variant	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1143C>T	3.37:g.5025281C>T			Q96TD3	Silent	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.L381	ENST00000256495.3	37	c.1143	CCDS2565.1	3																																																																																			BHLHE40	-	NULL		0.547	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE40	HGNC	protein_coding	OTTHUMT00000239244.2	C	NM_003670		5025281	+1	no_errors	ENST00000256495	ensembl	human	known	70_37	silent	SNP	1.000	T
BICD2	23299	genome.wustl.edu	37	9	95481579	95481579	+	Missense_Mutation	SNP	G	G	A	rs201997144		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:95481579G>A	ENST00000375512.3	-	5	1415	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	BICD2_ENST00000356884.6_Missense_Mutation_p.R450C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	450					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.R450C(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGCTCGCGGAGCTCGCCA	0.642																																																	1	Substitution - Missense(1)	cervix(1)						G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	75.0	81.0		1348,1348	4.2	1.0	9		81	0,8600		0,0,4300	yes	missense,missense	BICD2	NM_001003800.1,NM_015250.3	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	450/856,450/825	95481579	1,13005	2203	4300	6503	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1348C>T	9.37:g.95481579G>A	ENSP00000364662:p.Arg450Cys		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.R450C	ENST00000375512.3	37	c.1348	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418384	0.42918	2.27E-4	0.0	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.47177	0.85;0.85	5.2	4.24	0.50183	.	0.107024	0.64402	D	0.000008	T	0.54775	0.1879	L	0.40543	1.245	0.43598	D	0.995952	D;D	0.76494	0.999;0.999	P;D	0.65323	0.891;0.934	T	0.56414	-0.7983	10	0.87932	D	0	-36.363	10.5357	0.45002	0.0:0.0:0.6948:0.3052	.	450;450	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	450	ENSP00000349351:R450C;ENSP00000364662:R450C	ENSP00000349351:R450C	R	-	1	0	BICD2	94521400	0.999000	0.42202	0.970000	0.41538	0.074000	0.17049	3.784000	0.55416	2.605000	0.88082	0.561000	0.74099	CGC	BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.642	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	G	NM_015250		95481579	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	missense	SNP	1.000	A
BICD2	23299	genome.wustl.edu	37	9	95484983	95484983	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:95484983C>T	ENST00000375512.3	-	3	628	c.561G>A	c.(559-561)gaG>gaA	p.E187E	BICD2_ENST00000356884.6_Silent_p.E187E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	187					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.E187E(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGCTGATGTTCTCCTCCTCCA	0.577																																																	1	Substitution - coding silent(1)	cervix(1)											141.0	119.0	126.0					9																	95484983		2203	4300	6503	SO:0001819	synonymous_variant	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.561G>A	9.37:g.95484983C>T			O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Silent	SNP	pfam_Bicaudal-D_microtubule-assoc	p.E187	ENST00000375512.3	37	c.561	CCDS6700.1	9																																																																																			BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.577	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	C	NM_015250		95484983	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	silent	SNP	1.000	T
BICD2	23299	genome.wustl.edu	37	9	95484988	95484988	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:95484988C>T	ENST00000375512.3	-	3	623	c.556G>A	c.(556-558)Gag>Aag	p.E186K	BICD2_ENST00000356884.6_Missense_Mutation_p.E186K	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	186					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.E186K(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGTTCTCCTCCTCCAGTTCC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											136.0	115.0	122.0					9																	95484988		2203	4300	6503	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.556G>A	9.37:g.95484988C>T	ENSP00000364662:p.Glu186Lys		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.E186K	ENST00000375512.3	37	c.556	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.713521	0.96830	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.64991	-0.13;-0.13	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.83774	2.66	0.80722	D	1	D;D	0.58268	0.978;0.982	P;P	0.60236	0.796;0.871	T	0.77819	-0.2446	10	0.34782	T	0.22	-26.8251	15.4221	0.75022	0.0:1.0:0.0:0.0	.	186;186	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	K	186	ENSP00000349351:E186K;ENSP00000364662:E186K	ENSP00000349351:E186K	E	-	1	0	BICD2	94524809	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.714000	0.84703	2.319000	0.78375	0.561000	0.74099	GAG	BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.577	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	C	NM_015250		95484988	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	missense	SNP	1.000	T
BIK	638	genome.wustl.edu	37	22	43525228	43525228	+	Missense_Mutation	SNP	G	G	A	rs532663391		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:43525228G>A	ENST00000216115.2	+	5	463	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	134					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)		p.E134K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GGTGTCCTGCGAACAGGtgct	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		14461	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	cervix(1)											31.0	35.0	33.0					22																	43525228		2199	4282	6481	SO:0001583	missense	638			U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.400G>A	22.37:g.43525228G>A	ENSP00000216115:p.Glu134Lys		Q16582|Q6FH93	Missense_Mutation	SNP	pfam_Bcl2-int_killer	p.E134K	ENST00000216115.2	37	c.400	CCDS14044.1	22	.	.	.	.	.	.	.	.	.	.	G	9.158	1.017977	0.19355	.	.	ENSG00000100290	ENST00000216115	T	0.26373	1.74	4.24	-8.48	0.00935	.	.	.	.	.	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.28364	-1.0046	9	0.20046	T	0.44	4.4045	3.659	0.08232	0.281:0.4614:0.1573:0.1002	.	134	Q13323	BIK_HUMAN	K	134	ENSP00000216115:E134K	ENSP00000216115:E134K	E	+	1	0	BIK	41855172	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.502000	0.02279	-1.168000	0.02776	-0.254000	0.11334	GAA	BIK	-	pfam_Bcl2-int_killer		0.706	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIK	HGNC	protein_coding	OTTHUMT00000319676.1	G	NM_001197		43525228	+1	no_errors	ENST00000216115	ensembl	human	known	70_37	missense	SNP	0.000	A
BLM	641	genome.wustl.edu	37	15	91304065	91304065	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:91304065G>C	ENST00000355112.3	+	7	1580	c.1462G>C	c.(1462-1464)Gaa>Caa	p.E488Q	BLM_ENST00000560509.1_Missense_Mutation_p.E488Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	488	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	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)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.E488Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAATCTTTTTGAAAGGCCTTT	0.408			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	1	Substitution - Missense(1)	cervix(1)											74.0	80.0	78.0					15																	91304065		2198	4298	6496	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1462G>C	15.37:g.91304065G>C	ENSP00000347232:p.Glu488Gln		Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E488Q	ENST00000355112.3	37	c.1462	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364789	0.41902	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.54071	0.59	5.83	4.91	0.64330	.	0.330605	0.29572	N	0.011762	T	0.55337	0.1914	L	0.36672	1.1	0.27463	N	0.95309	D;P;D	0.67145	0.996;0.919;0.996	P;B;P	0.58331	0.837;0.401;0.837	T	0.49835	-0.8897	10	0.36615	T	0.2	-14.9427	10.6316	0.45541	0.0879:0.0:0.9121:0.0	.	488;113;488	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	Q	488;141	ENSP00000347232:E488Q	ENSP00000347232:E488Q	E	+	1	0	BLM	89105069	1.000000	0.71417	0.387000	0.26183	0.014000	0.08584	4.474000	0.60203	1.465000	0.48006	0.591000	0.81541	GAA	BLM	-	NULL		0.408	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	G			91304065	+1	no_errors	ENST00000355112	ensembl	human	known	70_37	missense	SNP	0.947	C
BMI1	648	genome.wustl.edu	37	10	22618232	22618232	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:22618232G>A	ENST00000376663.3	+	10	1247	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.E391K	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	248					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)	p.E248K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						AAATGCTGGAGAACTGGAAAG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											79.0	74.0	75.0					10																	22618232		2203	4300	6503	SO:0001583	missense	648			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.742G>A	10.37:g.22618232G>A	ENSP00000365851:p.Glu248Lys		Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E248K	ENST00000376663.3	37	c.742	CCDS7138.1	10	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705634	0.30232	.	.	ENSG00000168283	ENST00000376691;ENST00000376663;ENST00000443519	T;T	0.43294	1.56;0.95	5.68	5.68	0.88126	.	0.464009	0.26352	N	0.024875	T	0.26048	0.0635	N	0.08118	0	0.42608	D	0.993305	B;B	0.26002	0.04;0.139	B;B	0.18263	0.013;0.021	T	0.08680	-1.0710	10	0.20046	T	0.44	-12.1173	19.4021	0.94634	0.0:0.0:1.0:0.0	.	248;248	Q5U0M5;P35226	.;BMI1_HUMAN	K	160;248;153	ENSP00000365851:E248K;ENSP00000390768:E153K	ENSP00000365851:E248K	E	+	1	0	BMI1	22658238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.855000	0.92236	2.685000	0.91497	0.650000	0.86243	GAA	BMI1	-	NULL		0.478	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMI1	HGNC	protein_coding	OTTHUMT00000047176.1	G	NM_005180		22618232	+1	no_errors	ENST00000376663	ensembl	human	known	70_37	missense	SNP	1.000	A
BMPER	168667	genome.wustl.edu	37	7	33946488	33946488	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:33946488C>T	ENST00000297161.2	+	3	566	c.192C>T	c.(190-192)gaC>gaT	p.D64D	BMPER_ENST00000426693.1_Silent_p.D64D	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	64	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.D64D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTATCACAGACAACCCTTGCA	0.373																																																	1	Substitution - coding silent(1)	cervix(1)											136.0	126.0	129.0					7																	33946488		2203	4300	6503	SO:0001819	synonymous_variant	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.192C>T	7.37:g.33946488C>T			A8K1P8|Q8TF36	Silent	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.D64	ENST00000297161.2	37	c.192	CCDS5442.1	7																																																																																			BMPER	-	smart_VWF_C		0.373	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	C	NM_133468		33946488	+1	no_errors	ENST00000297161	ensembl	human	known	70_37	silent	SNP	1.000	T
BOD1L1	259282	genome.wustl.edu	37	4	13606335	13606335	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:13606335C>G	ENST00000040738.5	-	10	2324	c.2189G>C	c.(2188-2190)aGa>aCa	p.R730T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	730	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R730T(1)									AGTTTTCTCTCTTTCAGGCTT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											89.0	88.0	88.0					4																	13606335		2203	4299	6502	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2189G>C	4.37:g.13606335C>G	ENSP00000040738:p.Arg730Thr		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.R730T	ENST00000040738.5	37	c.2189	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595712	0.28445	.	.	ENSG00000038219	ENST00000040738	T	0.07908	3.15	5.71	4.54	0.55810	.	0.130981	0.35096	N	0.003444	T	0.04227	0.0117	N	0.08118	0	0.22096	N	0.99937	B	0.29716	0.255	B	0.23275	0.045	T	0.35201	-0.9798	10	0.59425	D	0.04	-7.1626	8.3772	0.32451	0.0:0.1543:0.0:0.8457	.	730	Q8NFC6	BOD1L_HUMAN	T	730	ENSP00000040738:R730T	ENSP00000040738:R730T	R	-	2	0	BOD1L	13215433	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	2.906000	0.48735	1.000000	0.39049	-0.471000	0.05019	AGA	BOD1L1	-	NULL		0.368	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13606335	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	1.000	G
BOD1L1	259282	genome.wustl.edu	37	4	13606553	13606553	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:13606553C>T	ENST00000040738.5	-	10	2106	c.1971G>A	c.(1969-1971)cgG>cgA	p.R657R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	657	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R657R(1)									GGGTAGATGTCCGTCTTTTAT	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											162.0	163.0	163.0					4																	13606553		2203	4300	6503	SO:0001819	synonymous_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1971G>A	4.37:g.13606553C>T			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.R657	ENST00000040738.5	37	c.1971	CCDS3411.2	4																																																																																			BOD1L1	-	NULL		0.428	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13606553	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	silent	SNP	0.962	T
BMPR1B	658	genome.wustl.edu	37	4	96070069	96070069	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:96070069C>G	ENST00000515059.1	+	11	1530	c.1247C>G	c.(1246-1248)tCa>tGa	p.S416*	BMPR1B_ENST00000394931.1_Nonsense_Mutation_p.S416*|BMPR1B_ENST00000264568.4_Nonsense_Mutation_p.S416*|BMPR1B_ENST00000440890.2_Nonsense_Mutation_p.S446*	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	416	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.S416*(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGATGTGTATCAGGAGGTAAG	0.393																																																	2	Substitution - Nonsense(2)	cervix(2)											156.0	143.0	147.0					4																	96070069		2203	4300	6503	SO:0001587	stop_gained	658			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1247C>G	4.37:g.96070069C>G	ENSP00000426617:p.Ser416*		B2R953|B4DSV1|P78366	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.S446*	ENST00000515059.1	37	c.1337	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.023103	0.97211	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	.	.	.	5.65	5.65	0.86999	.	0.064498	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	.	.	.	X	416;416;416;446;416;416	.	ENSP00000264568:S416X	S	+	2	0	BMPR1B	96289092	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	4.666000	0.61554	2.941000	0.99782	0.655000	0.94253	TCA	BMPR1B	-	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		0.393	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	C	NM_001203		96070069	+1	no_errors	ENST00000440890	ensembl	human	known	70_37	nonsense	SNP	0.996	G
BORA	79866	genome.wustl.edu	37	13	73318687	73318687	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:73318687G>C	ENST00000390667.5	+	7	596	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Missense_Mutation_p.E97Q	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	167					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)	p.E167Q(1)									TTTTAATTTAGAAAATATATT	0.294																																																	1	Substitution - Missense(1)	cervix(1)											53.0	50.0	51.0					13																	73318687		1794	4068	5862	SO:0001583	missense	79866			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.499G>C	13.37:g.73318687G>C	ENSP00000375082:p.Glu167Gln		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	prints_Aurora_borealis_protien	p.E167Q	ENST00000390667.5	37	c.499	CCDS9446.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.599640|4.599640	0.87055|0.87055	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000377815;ENST00000390667|ENST00000377814	T;T|.	0.43294|.	0.95;1.04|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82360|0.82360	0.5020|0.5020	M|M	0.81497|0.81497	2.545|2.545	0.53688|0.53688	D|D	0.999975|0.999975	D;D;D;D|.	0.89917|.	1.0;0.998;0.998;0.998|.	D;D;D;D|.	0.85130|.	0.997;0.987;0.991;0.987|.	T|T	0.81653|0.81653	-0.0835|-0.0835	10|5	0.87932|.	D|.	0|.	-26.0824|-26.0824	20.3368|20.3368	0.98748|0.98748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	97;167;227;167|.	B4DQ30;A8K631;B5LMG6;Q6PGQ7|.	.;.;.;BORA_HUMAN|.	Q|T	97;167|144	ENSP00000367046:E97Q;ENSP00000375082:E167Q|.	ENSP00000367046:E97Q|.	E|R	+|+	1|2	0|0	BORA|BORA	72216688|72216688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.233000|7.233000	0.78125|0.78125	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GAA|AGA	BORA	-	prints_Aurora_borealis_protien		0.294	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	G	NM_024808		73318687	+1	no_errors	ENST00000390667	ensembl	human	known	70_37	missense	SNP	1.000	C
BRAP	8315	genome.wustl.edu	37	12	112119640	112119640	+	Splice_Site	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:112119640C>G	ENST00000327551.6	-	3	295		c.e3-1		BRAP_ENST00000539060.1_5'Flank|BRAP_ENST00000419234.4_Splice_Site			Q6UWU4	CF089_HUMAN	BRCA1 associated protein						epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TTTAGTTCATCTTTCACCAGT	0.373																																					Pancreas(146;846 1904 7830 25130 26065)												1	Unknown(1)	cervix(1)											84.0	76.0	79.0					12																	112119640		2203	4300	6503	SO:0001630	splice_region_variant	8315			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.155-1G>C	12.37:g.112119640C>G			B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Splice_Site	SNP	-	e3-1	ENST00000327551.6	37	c.245-1		12	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655868	0.47467	.	.	ENSG00000089234	ENST00000419234;ENST00000327551	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6647	0.99678	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRAP	110604023	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	5.877000	0.69675	2.890000	0.99128	0.655000	0.94253	.	BRAP	-	-		0.373	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	C		Intron	112119640	-1	no_errors	ENST00000419234	ensembl	human	known	70_37	splice_site	SNP	1.000	G
BRCA1	672	genome.wustl.edu	37	17	41226417	41226417	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:41226417C>T	ENST00000357654.3	-	14	4724	c.4606G>A	c.(4606-4608)Gag>Aag	p.E1536K	BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.E27K|BRCA1_ENST00000352993.3_Missense_Mutation_p.E394K|BRCA1_ENST00000471181.2_Missense_Mutation_p.E1557K|BRCA1_ENST00000309486.4_Missense_Mutation_p.E1240K|BRCA1_ENST00000468300.1_Missense_Mutation_p.E432K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.E432K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.E353K|BRCA1_ENST00000493795.1_Missense_Mutation_p.E1489K	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1536					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1536K(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGCTGTTGCTCCTCCACATCA	0.438			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Missense(1)	cervix(1)											146.0	155.0	152.0					17																	41226417		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4606G>A	17.37:g.41226417C>T	ENSP00000350283:p.Glu1536Lys		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.E1557K	ENST00000357654.3	37	c.4669	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097901	0.20552	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D;D	0.91011	-2.36;-2.44;-2.51;-2.25;-2.35;-2.77;-2.48;-2.25;-2.2;-1.97;-2.39	4.94	-2.12	0.07165	.	1.094810	0.07043	N	0.830574	D	0.83166	0.5195	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B;B;B;B	0.12630	0.001;0.001;0.001;0.0;0.001;0.001;0.006;0.001	B;B;B;B;B;B;B;B	0.15870	0.001;0.002;0.001;0.007;0.002;0.003;0.006;0.014	T	0.67883	-0.5555	10	0.38643	T	0.18	.	6.6007	0.22699	0.0:0.5517:0.1244:0.324	.	432;385;431;433;432;1558;1536;1536	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	K	1536;1557;394;353;1240;432;385;1558;1489;431;432;307;386	ENSP00000350283:E1536K;ENSP00000312236:E394K;ENSP00000338007:E353K;ENSP00000310938:E1240K;ENSP00000417148:E432K;ENSP00000377294:E385K;ENSP00000418775:E1489K;ENSP00000420705:E431K;ENSP00000420412:E432K;ENSP00000419481:E307K;ENSP00000418819:E386K	ENSP00000310938:E1240K	E	-	1	0	BRCA1	38479943	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.218000	0.09240	-0.195000	0.10382	-2.033000	0.00422	GAG	BRCA1	-	pirsf_BRCA1		0.438	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	C	NM_007294		41226417	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	missense	SNP	0.000	T
BRCC3	79184	genome.wustl.edu	37	X	154305476	154305476	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:154305476C>T	ENST00000369462.1	+	4	252	c.227C>T	c.(226-228)tCt>tTt	p.S76F	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Missense_Mutation_p.S76F|BRCC3_ENST00000369459.2_Missense_Mutation_p.S76F|BRCC3_ENST00000399042.1_Missense_Mutation_p.S76F|BRCC3_ENST00000340647.4_Missense_Mutation_p.S77F	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	76	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S76F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACATTCATTCTGTCATCATC	0.428																																																	1	Substitution - Missense(1)	cervix(1)											115.0	97.0	103.0					X																	154305476		1888	4102	5990	SO:0001583	missense	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.227C>T	X.37:g.154305476C>T	ENSP00000358474:p.Ser76Phe		A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.S76F	ENST00000369462.1	37	c.227	CCDS56611.1	X	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200384	0.79015	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026;ENST00000399026	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.29	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.70894	0.3276	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.988;0.974;0.999	T	0.73675	-0.3908	10	0.72032	D	0.01	-9.5171	11.2063	0.48771	0.0:0.9073:0.0:0.0927	.	77;76;76	P46736-3;P46736-2;P46736	.;.;BRCC3_HUMAN	F	77;76;76;76;52;76;76;18	ENSP00000344103:S77F;ENSP00000328641:S76F;ENSP00000358471:S76F;ENSP00000358474:S76F;ENSP00000413170:S52F;ENSP00000381998:S76F;ENSP00000381988:S18F	ENSP00000328641:S76F	S	+	2	0	BRCC3	153958670	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.125000	0.77193	1.124000	0.41980	0.594000	0.82650	TCT	BRCC3	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.428	BRCC3-001	KNOWN	basic|CCDS	protein_coding	BRCC3	HGNC	protein_coding	OTTHUMT00000058788.4	C	NM_024332		154305476	+1	no_errors	ENST00000399042	ensembl	human	known	70_37	missense	SNP	0.999	T
BRPF1	7862	genome.wustl.edu	37	3	9781517	9781517	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:9781517G>T	ENST00000457855.1	+	2	1445	c.1434G>T	c.(1432-1434)tgG>tgT	p.W478C	BRPF1_ENST00000433861.2_Missense_Mutation_p.W478C|BRPF1_ENST00000424362.1_Missense_Mutation_p.W478C|BRPF1_ENST00000383829.2_Missense_Mutation_p.W478C|BRPF1_ENST00000302054.3_Missense_Mutation_p.W478C			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	478					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.W478C(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTAAGGGCTGGAGCTCAGAGA	0.587																																																	1	Substitution - Missense(1)	cervix(1)											61.0	60.0	61.0					3																	9781517		2203	4298	6501	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1434G>T	3.37:g.9781517G>T	ENSP00000410210:p.Trp478Cys		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.W478C	ENST00000457855.1	37	c.1434	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282888	0.59867	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.17854	2.27;2.26;3.65;2.25;2.25	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.56287	0.975;0.975;0.975;0.957	B;P;P;P	0.59221	0.385;0.854;0.485;0.719	T	0.00114	-1.2041	10	0.38643	T	0.18	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	478;478;478;478	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	C	478	ENSP00000402485:W478C;ENSP00000398863:W478C;ENSP00000373340:W478C;ENSP00000306297:W478C;ENSP00000410210:W478C	ENSP00000306297:W478C	W	+	3	0	BRPF1	9756517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.873000	0.98535	0.561000	0.74099	TGG	BRPF1	-	NULL		0.587	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	G	NM_001003694		9781517	+1	no_errors	ENST00000383829	ensembl	human	known	70_37	missense	SNP	1.000	T
BRPF1	7862	genome.wustl.edu	37	3	9784724	9784724	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:9784724G>A	ENST00000457855.1	+	6	2091	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	BRPF1_ENST00000433861.2_Missense_Mutation_p.E694K|BRPF1_ENST00000424362.1_Missense_Mutation_p.E694K|BRPF1_ENST00000383829.2_Missense_Mutation_p.E700K|BRPF1_ENST00000302054.3_Missense_Mutation_p.E694K			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	694	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E700K(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TGATGATTTTGAGGAGGACTT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											90.0	81.0	84.0					3																	9784724		2203	4300	6503	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2080G>A	3.37:g.9784724G>A	ENSP00000410210:p.Glu694Lys		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.E700K	ENST00000457855.1	37	c.2098	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622086	0.87460	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.6	5.6	0.85130	Bromodomain (6);Bromodomain, conserved site (1);	0.215344	0.47852	D	0.000205	T	0.57257	0.2041	L	0.54323	1.7	0.80722	D	1	D;D;P;D	0.89917	0.998;0.994;0.879;1.0	D;D;P;D	0.97110	0.981;0.981;0.899;1.0	T	0.48896	-0.8994	10	0.33141	T	0.24	.	19.6046	0.95575	0.0:0.0:1.0:0.0	.	694;694;700;694	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	K	694;694;700;694;694	ENSP00000402485:E694K;ENSP00000398863:E694K;ENSP00000373340:E700K;ENSP00000306297:E694K;ENSP00000410210:E694K	ENSP00000306297:E694K	E	+	1	0	BRPF1	9759724	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.864000	0.99589	2.617000	0.88574	0.591000	0.81541	GAG	BRPF1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.507	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	G	NM_001003694		9784724	+1	no_errors	ENST00000383829	ensembl	human	known	70_37	missense	SNP	1.000	A
BRPF3	27154	genome.wustl.edu	37	6	36168470	36168470	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:36168470C>G	ENST00000357641.6	+	2	624	c.371C>G	c.(370-372)tCa>tGa	p.S124*	BRPF3_ENST00000443324.2_Nonsense_Mutation_p.S124*|BRPF3_ENST00000543502.1_Nonsense_Mutation_p.S124*|BRPF3_ENST00000339717.7_Nonsense_Mutation_p.S124*|BRPF3_ENST00000534400.1_Nonsense_Mutation_p.S124*|BRPF3_ENST00000534694.1_Nonsense_Mutation_p.S124*	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	124					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.S124*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATGGTGGACTCAGGCATCCAG	0.542																																																	1	Substitution - Nonsense(1)	cervix(1)											90.0	85.0	87.0					6																	36168470		2203	4300	6503	SO:0001587	stop_gained	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.371C>G	6.37:g.36168470C>G	ENSP00000350267:p.Ser124*		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Nonsense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.S124*	ENST00000357641.6	37	c.371	CCDS34437.1	6	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075242	0.55646	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000454960;ENST00000543502;ENST00000443324;ENST00000534400	.	.	.	5.31	4.44	0.53790	.	0.423933	0.25804	N	0.028187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	13.7853	0.63105	0.0:0.9258:0.0:0.0742	.	.	.	.	X	124	.	ENSP00000345419:S124X	S	+	2	0	BRPF3	36276448	0.070000	0.21116	0.988000	0.46212	0.982000	0.71751	1.869000	0.39519	1.253000	0.44018	0.558000	0.71614	TCA	BRPF3	-	pfam_Enhancer_polycomb-like_N		0.542	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	C	NM_015695		36168470	+1	no_errors	ENST00000357641	ensembl	human	known	70_37	nonsense	SNP	0.269	G
BRWD1	54014	genome.wustl.edu	37	21	40667817	40667817	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:40667817C>G	ENST00000333229.2	-	7	788	c.461G>C	c.(460-462)cGa>cCa	p.R154P	BRWD1_ENST00000470108.1_5'Flank|BRWD1_ENST00000380800.3_Missense_Mutation_p.R154P|BRWD1_ENST00000342449.3_Missense_Mutation_p.R154P	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	154					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R154P(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTGTTTTCCTCGATGTATCTC	0.358																																					Melanoma(170;988 1986 4794 16843 39731)												2	Substitution - Missense(2)	cervix(2)											89.0	85.0	87.0					21																	40667817		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.461G>C	21.37:g.40667817C>G	ENSP00000330753:p.Arg154Pro		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R154P	ENST00000333229.2	37	c.461	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900022	0.72754	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.16897	2.31;2.31;2.31	5.91	5.02	0.67125	.	0.388763	0.24492	N	0.038059	T	0.25644	0.0624	L	0.36672	1.1	0.80722	D	1	P;D	0.69078	0.954;0.997	P;P	0.62435	0.576;0.902	T	0.00213	-1.1913	10	0.37606	T	0.19	-5.2091	9.8729	0.41187	0.0:0.7988:0.0:0.2012	.	154;154	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	P	154	ENSP00000330753:R154P;ENSP00000344333:R154P;ENSP00000370178:R154P	ENSP00000330753:R154P	R	-	2	0	BRWD1	39589687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.983000	0.49345	2.803000	0.96430	0.650000	0.86243	CGA	BRWD1	-	NULL		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40667817	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	1.000	G
BSN	8927	genome.wustl.edu	37	3	49694913	49694913	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49694913G>A	ENST00000296452.4	+	5	8038	c.7924G>A	c.(7924-7926)Gac>Aac	p.D2642N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2642					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.D2642N(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCAGGCTCTGACAGCAAGCA	0.622																																																	1	Substitution - Missense(1)	cervix(1)											44.0	50.0	48.0					3																	49694913		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7924G>A	3.37:g.49694913G>A	ENSP00000296452:p.Asp2642Asn		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.D2642N	ENST00000296452.4	37	c.7924	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694522	0.30052	.	.	ENSG00000164061	ENST00000296452	T	0.20881	2.04	5.93	5.93	0.95920	.	0.108239	0.64402	D	0.000007	T	0.26521	0.0648	L	0.58101	1.795	0.39030	D	0.959913	P	0.48764	0.915	B	0.39531	0.302	T	0.07908	-1.0748	10	0.62326	D	0.03	-23.9729	19.9541	0.97213	0.0:0.0:1.0:0.0	.	2642	Q9UPA5	BSN_HUMAN	N	2642	ENSP00000296452:D2642N	ENSP00000296452:D2642N	D	+	1	0	BSN	49669917	1.000000	0.71417	0.967000	0.41034	0.996000	0.88848	7.992000	0.88273	2.815000	0.96918	0.561000	0.74099	GAC	BSN	-	NULL		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49694913	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.981	A
BTAF1	9044	genome.wustl.edu	37	10	93749226	93749226	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:93749226C>G	ENST00000265990.6	+	20	3051	c.2743C>G	c.(2743-2745)Ccc>Gcc	p.P915A		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	915					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)	p.P915A(1)		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)				GACGCCCTGTCCCAATTCAAA	0.418																																																	1	Substitution - Missense(1)	cervix(1)											77.0	83.0	81.0					10																	93749226		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.2743C>G	10.37:g.93749226C>G	ENSP00000265990:p.Pro915Ala		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.P915A	ENST00000265990.6	37	c.2743	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727297	0.89390	.	.	ENSG00000095564	ENST00000265990	T	0.67865	-0.29	5.42	5.42	0.78866	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.109001	0.64402	D	0.000004	T	0.76097	0.3940	M	0.82823	2.61	0.80722	D	1	P;P	0.48694	0.914;0.914	P;P	0.46758	0.526;0.526	T	0.79176	-0.1911	10	0.48119	T	0.1	-0.2091	19.216	0.93778	0.0:1.0:0.0:0.0	.	915;915	Q2M1V9;O14981	.;BTAF1_HUMAN	A	915	ENSP00000265990:P915A	ENSP00000265990:P915A	P	+	1	0	BTAF1	93739206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.763000	0.85283	2.544000	0.85801	0.591000	0.81541	CCC	BTAF1	-	pfam_DUF3535,superfamily_ARM-type_fold		0.418	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	C	NM_003972		93749226	+1	no_errors	ENST00000265990	ensembl	human	known	70_37	missense	SNP	1.000	G
BTN3A3	10384	genome.wustl.edu	37	6	26444366	26444366	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:26444366G>A	ENST00000244519.2	+	4	510	c.267G>A	c.(265-267)caG>caA	p.Q89Q	BTN3A3_ENST00000361232.3_Silent_p.Q47Q|BTN3A3_ENST00000339789.4_Silent_p.Q47Q	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	89	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.Q89Q(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AAGACAGGCAGAGTGCACCGT	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											58.0	48.0	52.0					6																	26444366		2203	4297	6500	SO:0001819	synonymous_variant	10384			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.267G>A	6.37:g.26444366G>A			B4DWI7|E9PCP5	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.Q89	ENST00000244519.2	37	c.267	CCDS4611.1	6																																																																																			BTN3A3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.552	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2	G	NM_006994		26444366	+1	no_errors	ENST00000244519	ensembl	human	known	70_37	silent	SNP	0.274	A
BZW2	28969	genome.wustl.edu	37	7	16720997	16720997	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:16720997G>A	ENST00000433922.2	+	4	485	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	BZW2_ENST00000405202.1_Missense_Mutation_p.E27K|BZW2_ENST00000258761.3_Missense_Mutation_p.E103K|BZW2_ENST00000452975.2_Missense_Mutation_p.E103K|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	103					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)		p.E103K(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TTCAGCAAATGAAGATCATGA	0.428																																																	1	Substitution - Missense(1)	cervix(1)											137.0	121.0	126.0					7																	16720997		2203	4300	6503	SO:0001583	missense	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.307G>A	7.37:g.16720997G>A	ENSP00000397249:p.Glu103Lys		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.E103K	ENST00000433922.2	37	c.307	CCDS5362.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.232884	0.97399	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000405202;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.75788	0.3897	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.993;0.998;0.993	D;D;D	0.80764	0.956;0.994;0.956	T	0.69877	-0.5026	10	0.27082	T	0.32	-12.2543	20.2527	0.98410	0.0:0.0:1.0:0.0	.	103;103;103	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	K	103;103;103;103;27;103;103;103	ENSP00000403481:E103K;ENSP00000258761:E103K;ENSP00000397249:E103K;ENSP00000411715:E103K;ENSP00000385577:E27K;ENSP00000412750:E103K;ENSP00000415924:E103K;ENSP00000416531:E103K	ENSP00000258761:E103K	E	+	1	0	BZW2	16687522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.810000	0.99221	2.788000	0.95919	0.557000	0.71058	GAA	BZW2	-	NULL		0.428	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	HGNC	protein_coding	OTTHUMT00000253256.2	G	NM_014038		16720997	+1	no_errors	ENST00000258761	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC7	79741	genome.wustl.edu	37	10	33137547	33137547	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:33137547G>C	ENST00000375030.2	+	20	2020	c.1402G>C	c.(1402-1404)Gat>Cat	p.D468H	C10orf68_ENST00000375028.3_Missense_Mutation_p.D513H|C10orf68_ENST00000375025.4_Missense_Mutation_p.D573H			Q9H943	CJ068_HUMAN		509								p.D509H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TAAAAACAAAGATATGTCCGT	0.313																																																	1	Substitution - Missense(1)	cervix(1)											58.0	59.0	59.0					10																	33137547		2202	4289	6491	SO:0001583	missense	79741																														ENST00000375030.2:c.1402G>C	10.37:g.33137547G>C	ENSP00000364170:p.Asp468His		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.D573H	ENST00000375030.2	37	c.1717		10	.	.	.	.	.	.	.	.	.	.	.	11.92	1.782404	0.31502	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.34472	1.39;1.37;1.36;1.36	3.06	-6.13	0.02118	.	.	.	.	.	T	0.40171	0.1106	L	0.47716	1.5	0.09310	N	1	D;D;D;D	0.71674	0.997;0.997;0.998;0.997	D;D;D;D	0.68353	0.923;0.923;0.957;0.923	T	0.34800	-0.9814	9	0.59425	D	0.04	.	2.2154	0.03958	0.3668:0.1247:0.3831:0.1254	.	490;509;513;468	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	H	509;468;513;573;485	ENSP00000303710:D509H;ENSP00000364170:D468H;ENSP00000364168:D513H;ENSP00000364165:D573H	ENSP00000303710:D509H	D	+	1	0	C10orf68	33177553	0.027000	0.19231	0.000000	0.03702	0.114000	0.19823	-0.040000	0.12104	-1.880000	0.01125	0.491000	0.48974	GAT	C10orf68	-	NULL		0.313	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	G			33137547	+1	no_errors	ENST00000375025	ensembl	human	known	70_37	missense	SNP	0.000	C
C12orf40	283461	genome.wustl.edu	37	12	40040240	40040240	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:40040240C>G	ENST00000324616.5	+	4	466	c.312C>G	c.(310-312)ctC>ctG	p.L104L	C12orf40_ENST00000405531.3_Silent_p.L104L|C12orf40_ENST00000398716.1_Silent_p.L27L	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	104								p.L104L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTCTAAACTCTGCCTTGATG	0.343																																																	1	Substitution - coding silent(1)	cervix(1)											149.0	144.0	146.0					12																	40040240		1828	4085	5913	SO:0001819	synonymous_variant	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.312C>G	12.37:g.40040240C>G			B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	NULL	p.L104	ENST00000324616.5	37	c.312	CCDS41770.1	12																																																																																			C12orf40	-	NULL		0.343	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	C	NM_173599		40040240	+1	no_errors	ENST00000324616	ensembl	human	known	70_37	silent	SNP	0.613	G
LINC01465	283416	genome.wustl.edu	37	12	62996860	62996860	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:62996860C>T	ENST00000408887.2	-	1	354	c.259G>A	c.(259-261)Gag>Aag	p.E87K	MIRLET7I_ENST00000362309.1_RNA|RP11-631N16.2_ENST00000550290.1_RNA	NM_175895.3	NP_787091.1	Q8N7H1	CL061_HUMAN		87								p.E87K(1)		cervix(1)|lung(2)	3			BRCA - Breast invasive adenocarcinoma(9;0.0399)	GBM - Glioblastoma multiforme(28;0.134)		GCGGCAGCCTCTGCGGGATGC	0.736																																																	1	Substitution - Missense(1)	cervix(1)											7.0	9.0	8.0					12																	62996860		2163	4225	6388	SO:0001583	missense	283416																														ENST00000408887.2:c.259G>A	12.37:g.62996860C>T	ENSP00000386169:p.Glu87Lys		B2RMN9|Q3ZCV4	Missense_Mutation	SNP	NULL	p.E87K	ENST00000408887.2	37	c.259	CCDS8964.1	12	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994183	0.35226	.	.	ENSG00000221949	ENST00000408887	.	.	.	2.22	-3.76	0.04359	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25537	-1.0129	7	.	.	.	.	3.654	0.08214	0.0:0.37:0.1957:0.4343	.	87	Q8N7H1	CL061_HUMAN	K	87	.	.	E	-	1	0	C12orf61	61283127	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.057000	0.14279	-0.740000	0.04803	-0.424000	0.05967	GAG	C12orf61	-	NULL		0.736	C12orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf61	HGNC	protein_coding	OTTHUMT00000406740.2	C			62996860	-1	no_errors	ENST00000408887	ensembl	human	known	70_37	missense	SNP	0.000	T
CFAP54	144535	genome.wustl.edu	37	12	97150283	97150283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:97150283C>T	ENST00000524981.4	+	57	7911	c.7888C>T	c.(7888-7890)Caa>Taa	p.Q2630*				Q96N23	CL055_HUMAN		0								p.Q1055*(1)									TCCAAGTTTTCAACTTGAGAG	0.328																																																	1	Substitution - Nonsense(1)	cervix(1)											69.0	77.0	74.0					12																	97150283		2201	4298	6499	SO:0001587	stop_gained	144535																														ENST00000524981.4:c.7888C>T	12.37:g.97150283C>T	ENSP00000431759:p.Gln2630*			Nonsense_Mutation	SNP	NULL	p.Q1055*	ENST00000524981.4	37	c.3163		12	.	.	.	.	.	.	.	.	.	.	C	44	11.190099	0.99528	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.55	1.23	0.21249	.	0.971325	0.08454	N	0.943403	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-0.9046	2.8802	0.05645	0.3891:0.3298:0.1954:0.0857	.	.	.	.	X	2630;1055	.	ENSP00000345466:Q1055X	Q	+	1	0	C12orf63	95674414	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.032000	0.13732	0.727000	0.32360	0.655000	0.94253	CAA	C12orf55	-	NULL		0.328	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97150283	+1	no_errors	ENST00000342887	ensembl	human	known	70_37	nonsense	SNP	0.000	T
C12orf76	400073	genome.wustl.edu	37	12	110488822	110488822	+	Intron	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:110488822C>A	ENST00000309050.5	-	4	664				C12orf76_ENST00000546627.1_5'Flank|C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000547573.1_5'Flank|C12orf76_ENST00000546651.2_5'Flank|C12orf76_ENST00000548191.1_Missense_Mutation_p.D97Y|C12orf76_ENST00000549724.1_5'Flank|C12orf76_ENST00000551185.2_5'Flank	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76											endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						AAGGTGTAATCTGCCATGTTA	0.473																																																	0																																										SO:0001627	intron_variant	400073			BC041968	CCDS9141.1	12q24.11	2012-08-16			ENSG00000174456	ENSG00000174456			33790	protein-coding gene	gene with protein product							Standard	NM_207435		Approved	FLJ40142	uc001tqe.2	Q8N812	OTTHUMG00000169315	ENST00000309050.5:c.299+6171G>T	12.37:g.110488822C>A				Missense_Mutation	SNP	pfam_P2X_purnocptor	p.D97Y	ENST00000309050.5	37	c.289	CCDS9141.1	12	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855002	0.51376	.	.	ENSG00000174456	ENST00000548191	T	0.09630	2.96	2.26	2.26	0.28386	.	.	.	.	.	T	0.27384	0.0672	.	.	.	0.21256	N	0.999749	D	0.89917	1.0	D	0.85130	0.997	T	0.02498	-1.1150	8	0.87932	D	0	.	7.9646	0.30091	0.0:1.0:0.0:0.0	.	97	F8VV97	.	Y	97	ENSP00000449939:D97Y	ENSP00000449939:D97Y	D	-	1	0	C12orf76	108973205	0.956000	0.32656	0.577000	0.28562	0.202000	0.24057	2.790000	0.47821	1.248000	0.43934	0.313000	0.20887	GAT	C12orf76	-	pfam_P2X_purnocptor		0.473	C12orf76-001	KNOWN	basic|CCDS	protein_coding	C12orf76	HGNC	protein_coding	OTTHUMT00000403439.2	C	NM_207435		110488822	-1	no_errors	ENST00000548191	ensembl	human	putative	70_37	missense	SNP	0.717	A
C12orf43	64897	genome.wustl.edu	37	12	121454196	121454196	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:121454196C>G	ENST00000288757.3	-	1	104	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.E28Q|C12orf43_ENST00000536407.2_Missense_Mutation_p.E28Q	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	28								p.E28Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGCCGCCTCGCGGCACCGC	0.637																																																	1	Substitution - Missense(1)	cervix(1)											43.0	43.0	43.0					12																	121454196		2203	4300	6503	SO:0001583	missense	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.82G>C	12.37:g.121454196C>G	ENSP00000288757:p.Glu28Gln		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	NULL	p.E28Q	ENST00000288757.3	37	c.82	CCDS9210.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.60|16.60	3.169457|3.169457	0.57584|0.57584	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000288757;ENST00000539736|ENST00000536407	T;T|.	0.58940|.	0.38;0.3|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.046078|.	0.85682|.	D|.	0.000000|.	T|T	0.72977|0.72977	0.3528|0.3528	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;P;D|.	0.64830|.	0.933;0.794;0.994|.	P;P;P|.	0.58577|.	0.812;0.812;0.841|.	T|T	0.75379|0.75379	-0.3338|-0.3338	10|6	0.54805|0.87932	T|D	0.06|0	-38.6147|-38.6147	14.1151|14.1151	0.65149|0.65149	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28;28|.	G5EA44;B4DWJ9;Q96C57|.	.;.;CL043_HUMAN|.	Q|P	28|32	ENSP00000288757:E28Q;ENSP00000437803:E28Q|.	ENSP00000288757:E28Q|ENSP00000437546:R32P	E|R	-|-	1|2	0|0	C12orf43|C12orf43	119938579|119938579	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.058000|0.058000	0.15608|0.15608	3.546000|3.546000	0.53656|0.53656	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAG|CGA	C12orf43	-	NULL		0.637	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf43	HGNC	protein_coding		C	NM_022895		121454196	-1	no_errors	ENST00000288757	ensembl	human	known	70_37	missense	SNP	0.999	G
C14orf105	55195	genome.wustl.edu	37	14	57938127	57938127	+	Silent	SNP	C	C	T	rs371332687		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:57938127C>T	ENST00000216445.3	-	6	973	c.837G>A	c.(835-837)gtG>gtA	p.V279V	C14orf105_ENST00000422976.2_Silent_p.V319V|C14orf105_ENST00000534126.1_Silent_p.V278V	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	279								p.V279V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCCTGGTCCTCACCAGTGCTC	0.458																																																	1	Substitution - coding silent(1)	cervix(1)						C		4,4402	8.1+/-20.4	0,4,2199	119.0	107.0	111.0		837	5.1	1.0	14		111	0,8600		0,0,4300	no	coding-synonymous	C14orf105	NM_018168.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		279/297	57938127	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55195			AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.837G>A	14.37:g.57938127C>T			Q53G04	Silent	SNP	NULL	p.V279	ENST00000216445.3	37	c.837	CCDS9730.1	14																																																																																			C14orf105	-	NULL		0.458	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C14orf105	HGNC	protein_coding	OTTHUMT00000276921.2	C	NM_018168		57938127	-1	no_errors	ENST00000216445	ensembl	human	known	70_37	silent	SNP	1.000	T
C14orf159	80017	genome.wustl.edu	37	14	91681877	91681877	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:91681877C>G	ENST00000523771.1	+	13	2281	c.1678C>G	c.(1678-1680)Cag>Gag	p.Q560E	C14orf159_ENST00000412671.2_Missense_Mutation_p.Q565E|C14orf159_ENST00000256324.10_Missense_Mutation_p.Q565E|C14orf159_ENST00000525393.2_Missense_Mutation_p.Q436E|C14orf159_ENST00000522322.1_Missense_Mutation_p.Q560E|C14orf159_ENST00000520328.1_Missense_Mutation_p.Q508E|C14orf159_ENST00000521077.2_Missense_Mutation_p.Q525E|C14orf159_ENST00000428926.2_Missense_Mutation_p.Q560E|C14orf159_ENST00000518868.1_Missense_Mutation_p.Q565E|C14orf159_ENST00000523816.1_Missense_Mutation_p.Q560E			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	560						mitochondrion (GO:0005739)		p.Q560E(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GGCCTGGACTCAGGCCCTCCC	0.607																																																	1	Substitution - Missense(1)	cervix(1)											67.0	63.0	65.0					14																	91681877		2203	4300	6503	SO:0001583	missense	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1678C>G	14.37:g.91681877C>G	ENSP00000429655:p.Gln560Glu		B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	pfam_DUF1445,pirsf_UPF0317_mt	p.Q565E	ENST00000523771.1	37	c.1693	CCDS32141.1	14	.	.	.	.	.	.	.	.	.	.	C	0.172	-1.070222	0.01918	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.45	3.62	0.41486	.	1.239390	0.05333	N	0.528656	T	0.10165	0.0249	N	0.20401	0.57	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.001;0.004;0.004;0.004	B;B;B;B;B	0.12156	0.007;0.004;0.004;0.004;0.004	T	0.34650	-0.9820	10	0.02654	T	1	.	5.882	0.18860	0.0:0.6709:0.1594:0.1696	.	560;436;508;565;525	Q7Z3D6;Q8NB88;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.	E	508;565;525;565;560;436;560;560;560;565	ENSP00000429453:Q508E;ENSP00000256324:Q565E;ENSP00000430137:Q525E;ENSP00000428263:Q565E;ENSP00000428974:Q560E;ENSP00000435459:Q436E;ENSP00000404343:Q560E;ENSP00000427953:Q560E;ENSP00000429655:Q560E;ENSP00000404196:Q565E	ENSP00000256324:Q565E	Q	+	1	0	C14orf159	90751630	0.009000	0.17119	0.029000	0.17559	0.006000	0.05464	0.749000	0.26320	0.662000	0.31006	0.655000	0.94253	CAG	C14orf159	-	pirsf_UPF0317_mt		0.607	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf159	HGNC	protein_coding	OTTHUMT00000381273.1	C	NM_024952		91681877	+1	no_errors	ENST00000256324	ensembl	human	known	70_37	missense	SNP	0.008	G
C16orf78	123970	genome.wustl.edu	37	16	49433132	49433132	+	Silent	SNP	C	C	G	rs547969905		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:49433132C>G	ENST00000299191.3	+	5	858	c.741C>G	c.(739-741)gtC>gtG	p.V247V		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	247						nucleus (GO:0005634)		p.V247V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CCCACATGGTCGAAGAGGACA	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											145.0	118.0	127.0					16																	49433132		2199	4300	6499	SO:0001819	synonymous_variant	123970			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.741C>G	16.37:g.49433132C>G				Silent	SNP	NULL	p.V247	ENST00000299191.3	37	c.741	CCDS10738.1	16																																																																																			C16orf78	-	NULL		0.498	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	HGNC	protein_coding	OTTHUMT00000256846.1	C	NM_144602		49433132	+1	no_errors	ENST00000299191	ensembl	human	known	70_37	silent	SNP	0.000	G
SPATA33	124045	genome.wustl.edu	37	16	89724711	89724711	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:89724711G>A	ENST00000301031.4	+	2	90	c.90G>A	c.(88-90)ttG>ttA	p.L30L	CHMP1A_ENST00000535997.2_5'Flank|SPATA33_ENST00000568929.1_De_novo_Start_InFrame|CHMP1A_ENST00000253475.5_5'Flank|CHMP1A_ENST00000397901.3_5'Flank|SPATA33_ENST00000579310.1_Silent_p.L31L|CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000550102.1_5'Flank	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	30						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L30L(1)									AGGAGAAGTTGATGGAGAAGC	0.562																																																	1	Substitution - coding silent(1)	cervix(1)											69.0	73.0	72.0					16																	89724711		2198	4300	6498	SO:0001819	synonymous_variant	124045			AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"""chromosome 16 open reading frame 55"""	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.90G>A	16.37:g.89724711G>A			A8WFL2|B4DZN8	Silent	SNP	NULL	p.L31	ENST00000301031.4	37	c.93	CCDS10983.1	16																																																																																			C16orf55	-	NULL		0.562	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C16orf55	HGNC	protein_coding	OTTHUMT00000269924.2	G	NM_153025		89724711	+1	no_errors	ENST00000579310	ensembl	human	known	70_37	silent	SNP	0.000	A
C17orf75	64149	genome.wustl.edu	37	17	30669148	30669148	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:30669148G>C	ENST00000577809.1	-	1	60	c.11C>G	c.(10-12)tCt>tGt	p.S4C	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.S4C	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	4										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CTCCTGCAAAGAGGGGAGCAT	0.662																																																	0													24.0	29.0	27.0					17																	30669148		1976	4145	6121	SO:0001583	missense	64149			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.11C>G	17.37:g.30669148G>C	ENSP00000464275:p.Ser4Cys		Q7Z2H4	Missense_Mutation	SNP	NULL	p.S4C	ENST00000577809.1	37	c.11	CCDS58537.1	17	.	.	.	.	.	.	.	.	.	.	G	10.69	1.419793	0.25552	.	.	ENSG00000108666	ENST00000225805	.	.	.	4.99	4.02	0.46733	.	0.057123	0.64402	D	0.000001	T	0.65533	0.2700	L	0.43152	1.355	0.39550	D	0.968966	D	0.76494	0.999	D	0.65443	0.935	T	0.69741	-0.5063	9	0.87932	D	0	-12.34	11.4597	0.50202	0.0844:0.0:0.9156:0.0	.	4	Q9HAS0	NJMU_HUMAN	C	4	.	ENSP00000225805:S4C	S	-	2	0	C17orf75	27693261	0.999000	0.42202	0.825000	0.32803	0.421000	0.31385	3.309000	0.51903	1.322000	0.45245	0.455000	0.32223	TCT	C17orf75	-	NULL		0.662	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	C17orf75	HGNC	protein_coding	OTTHUMT00000447204.1	G	NM_022344		30669148	-1	no_errors	ENST00000225805	ensembl	human	known	70_37	missense	SNP	0.944	C
HEATR9	256957	genome.wustl.edu	37	17	34185207	34185207	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:34185207G>C	ENST00000311880.2	-	11	1297	c.1149C>G	c.(1147-1149)ttC>ttG	p.F383L	C17orf66_ENST00000592980.1_Missense_Mutation_p.F343L	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		383					hematopoietic progenitor cell differentiation (GO:0002244)			p.F383L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CACTTACAAGGAAGGGTTCAT	0.517																																																	1	Substitution - Missense(1)	cervix(1)											248.0	246.0	246.0					17																	34185207		2203	4300	6503	SO:0001583	missense	256957																														ENST00000311880.2:c.1149C>G	17.37:g.34185207G>C	ENSP00000309560:p.Phe383Leu		B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F383L	ENST00000311880.2	37	c.1149	CCDS11299.1	17	.	.	.	.	.	.	.	.	.	.	G	7.490	0.650549	0.14516	.	.	ENSG00000172653	ENST00000311880	T	0.17213	2.29	3.6	-2.48	0.06423	Armadillo-like helical (1);Armadillo-type fold (1);	0.170083	0.28398	N	0.015484	T	0.08582	0.0213	N	0.24115	0.695	0.24462	N	0.994437	B;B;B	0.25563	0.106;0.106;0.129	B;B;B	0.30782	0.073;0.05;0.12	T	0.40683	-0.9550	10	0.11485	T	0.65	.	7.6349	0.28261	0.5554:0.0:0.4446:0.0	.	349;343;383	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	L	383	ENSP00000309560:F383L	ENSP00000309560:F383L	F	-	3	2	C17orf66	31209320	0.948000	0.32251	0.730000	0.30809	0.393000	0.30537	0.813000	0.27225	-0.592000	0.05851	0.305000	0.20034	TTC	C17orf66	-	superfamily_ARM-type_fold		0.517	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf66	HGNC	protein_coding	OTTHUMT00000256487.1	G			34185207	-1	no_errors	ENST00000311880	ensembl	human	known	70_37	missense	SNP	0.472	C
C17orf82	388407	genome.wustl.edu	37	17	59489402	59489402	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:59489402C>G	ENST00000335108.2	+	1	291	c.66C>G	c.(64-66)ctC>ctG	p.L22L	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	22								p.L22L(2)		cervix(1)|lung(1)	2						CTGCCTTCCTCCGCTCTGGGA	0.667											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	cervix(2)											33.0	37.0	36.0					17																	59489402		2202	4300	6502	SO:0001819	synonymous_variant	388407			BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.66C>G	17.37:g.59489402C>G		1038		Silent	SNP	NULL	p.L22	ENST00000335108.2	37	c.66	CCDS11628.1	17																																																																																			C17orf82	-	NULL		0.667	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf82	HGNC	protein_coding	OTTHUMT00000449646.1	C	NM_203425		59489402	+1	no_errors	ENST00000335108	ensembl	human	known	70_37	silent	SNP	0.003	G
NPC1	4864	genome.wustl.edu	37	18	21111732	21111732	+	3'UTR	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:21111732C>G	ENST00000269228.5	-	0	4825				C18orf8_ENST00000269221.3_3'UTR|C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000590868.1_3'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1						adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TAATAAAGCTCTTTAAACTAT	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	29919			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.*434G>C	18.37:g.21111732C>G			B4DET3|Q9P130	RNA	SNP	-	NULL	ENST00000269228.5	37	NULL	CCDS11878.1	18																																																																																			C18orf8	-	-		0.313	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf8	HGNC	protein_coding	OTTHUMT00000254823.2	C	NM_000271		21111732	+1	no_errors	ENST00000591367	ensembl	human	known	70_37	rna	SNP	1.000	G
PROSER3	148137	genome.wustl.edu	37	19	36258752	36258752	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:36258752G>A	ENST00000544099.1	+	9	1068	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	AC002398.13_ENST00000589397.1_RNA|C19orf55_ENST00000396908.4_Silent_p.V335V			Q2NL68	PRSR3_HUMAN		335								p.V335V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGGGTCAGTGATACGGAAGA	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											18.0	21.0	20.0					19																	36258752		1912	4124	6036	SO:0001819	synonymous_variant	148137																														ENST00000544099.1:c.1005G>A	19.37:g.36258752G>A			Q8NDI3|Q8WWC8|Q96NL4	Silent	SNP	NULL	p.V335	ENST00000544099.1	37	c.1005		19																																																																																			C19orf55	-	NULL		0.642	C19orf55-001	KNOWN	basic	protein_coding	C19orf55	HGNC	protein_coding	OTTHUMT00000398160.2	G			36258752	+1	no_errors	ENST00000396908	ensembl	human	known	70_37	silent	SNP	0.000	A
C1orf177	163747	genome.wustl.edu	37	1	55277499	55277499	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:55277499G>A	ENST00000371273.3	+	5	528	c.513G>A	c.(511-513)gaG>gaA	p.E171E	C1orf177_ENST00000358193.3_Silent_p.E171E	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	171								p.E171E(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATTATGGGGAGAAGGGTAACC	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											63.0	59.0	60.0					1																	55277499		2203	4300	6503	SO:0001819	synonymous_variant	163747			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.513G>A	1.37:g.55277499G>A			B7WPL2|Q8N7Y9	Silent	SNP	NULL	p.E171	ENST00000371273.3	37	c.513	CCDS44153.1	1																																																																																			C1orf177	-	NULL		0.587	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf177	HGNC	protein_coding	OTTHUMT00000027674.1	G	NM_152607		55277499	+1	no_errors	ENST00000371273	ensembl	human	known	70_37	silent	SNP	0.951	A
C1orf226	400793	genome.wustl.edu	37	1	162353431	162353431	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:162353431C>G	ENST00000458626.2	+	2	949	c.777C>G	c.(775-777)ctC>ctG	p.L259L	C1orf226_ENST00000426197.2_Silent_p.L302L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	259								p.L302L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						CCTCCAGCCTCGACAATGAGG	0.587																																																	2	Substitution - coding silent(2)	cervix(2)											20.0	23.0	22.0					1																	162353431		2052	4188	6240	SO:0001819	synonymous_variant	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.777C>G	1.37:g.162353431C>G			B4DF31	Silent	SNP	NULL	p.L302	ENST00000458626.2	37	c.906	CCDS53422.1	1																																																																																			C1orf226	-	NULL		0.587	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf226	HGNC	protein_coding	OTTHUMT00000076793.2	C	NM_001085375		162353431	+1	no_errors	ENST00000426197	ensembl	human	known	70_37	silent	SNP	0.033	G
C1orf112	55732	genome.wustl.edu	37	1	169792605	169792605	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:169792605G>C	ENST00000286031.6	+	10	1540	c.840G>C	c.(838-840)caG>caC	p.Q280H	C1orf112_ENST00000413811.2_Missense_Mutation_p.Q251H|C1orf112_ENST00000359326.4_Missense_Mutation_p.Q280H|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q338H|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	280								p.Q280H(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTATCTTCAGATACACAGGT	0.333																																																	1	Substitution - Missense(1)	cervix(1)											125.0	125.0	125.0					1																	169792605		2203	4298	6501	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.840G>C	1.37:g.169792605G>C	ENSP00000286031:p.Gln280His		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.Q280H	ENST00000286031.6	37	c.840	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012771	0.54468	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.57	3.68	0.42216	.	0.051087	0.85682	D	0.000000	T	0.51193	0.1660	M	0.77616	2.38	0.43091	D	0.994766	D;P	0.76494	0.999;0.865	D;P	0.80764	0.994;0.465	T	0.57136	-0.7863	10	0.72032	D	0.01	-4.0849	9.2373	0.37475	0.0802:0.147:0.7727:0.0	.	251;280	B4E0A9;Q9NSG2	.;CA112_HUMAN	H	251;280;338;280	ENSP00000389257:Q251H;ENSP00000352276:Q280H;ENSP00000415583:Q338H;ENSP00000286031:Q280H	ENSP00000286031:Q280H	Q	+	3	2	C1orf112	168059229	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.822000	0.48073	0.705000	0.31890	-0.175000	0.13238	CAG	C1orf112	-	NULL		0.333	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	G	NM_018186		169792605	+1	no_errors	ENST00000286031	ensembl	human	known	70_37	missense	SNP	1.000	C
C1orf101	257044	genome.wustl.edu	37	1	244735747	244735747	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:244735747C>T	ENST00000366534.4	+	11	1677	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.F541F|C1orf101_ENST00000366531.3_Silent_p.F390F	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	541						CatSper complex (GO:0036128)		p.F541F(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CAAGAGCATTCATTTTCTTAA	0.318																																																	2	Substitution - coding silent(2)	cervix(2)											104.0	96.0	99.0					1																	244735747		2203	4300	6503	SO:0001819	synonymous_variant	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1623C>T	1.37:g.244735747C>T			B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	NULL	p.F541	ENST00000366534.4	37	c.1623	CCDS44340.1	1																																																																																			C1orf101	-	NULL		0.318	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	C	NM_173807		244735747	+1	no_errors	ENST00000366534	ensembl	human	known	70_37	silent	SNP	0.000	T
C2CD3	26005	genome.wustl.edu	37	11	73785637	73785637	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:73785637G>C	ENST00000334126.7	-	24	4838	c.4612C>G	c.(4612-4614)Cct>Gct	p.P1538A	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1538A			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1538					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)		p.P1538A(2)		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)					CCAAACAGAGGATACACACCT	0.483																																																	2	Substitution - Missense(2)	cervix(2)											34.0	32.0	32.0					11																	73785637		2200	4293	6493	SO:0001583	missense	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.4612C>G	11.37:g.73785637G>C	ENSP00000334379:p.Pro1538Ala		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.P1538A	ENST00000334126.7	37	c.4612		11	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699898	0.68501	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	D;D;D	0.88124	-2.34;-2.34;-2.34	5.51	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.92492	0.7616	M	0.70275	2.135	0.43073	D	0.994718	D	0.76494	0.999	D	0.85130	0.997	D	0.93393	0.6753	10	0.72032	D	0.01	-13.5683	14.3671	0.66812	0.0723:0.0:0.9277:0.0	.	1538	Q4AC94-1	.	A	1538;1538;1519;346	ENSP00000334379:P1538A;ENSP00000323339:P1538A;ENSP00000388750:P346A	ENSP00000323339:P1538A	P	-	1	0	C2CD3	73463285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.669000	0.91163	1.477000	0.48234	0.655000	0.94253	CCT	C2CD3	-	NULL		0.483	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		G	NM_015531		73785637	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	1.000	C
PRR30	339779	genome.wustl.edu	37	2	27361043	27361043	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:27361043G>C	ENST00000335524.3	-	3	680	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		52	Pro-rich.							p.S52C(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAGTGGAAGAGAACGGTGG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											104.0	94.0	97.0					2																	27361043		2203	4300	6503	SO:0001583	missense	339779																														ENST00000335524.3:c.155C>G	2.37:g.27361043G>C	ENSP00000335017:p.Ser52Cys		Q86UE2	Missense_Mutation	SNP	NULL	p.S52C	ENST00000335524.3	37	c.155	CCDS1739.1	2	.	.	.	.	.	.	.	.	.	.	G	8.493	0.862390	0.17178	.	.	ENSG00000186143	ENST00000335524	T	0.34472	1.36	3.77	2.88	0.33553	.	.	.	.	.	T	0.27134	0.0665	N	0.14661	0.345	0.09310	N	1	P	0.40250	0.709	P	0.45195	0.473	T	0.11012	-1.0605	9	0.44086	T	0.13	9.0E-4	9.1277	0.36826	0.2081:0.0:0.7919:0.0	.	52	Q53SZ7	CB053_HUMAN	C	52	ENSP00000335017:S52C	ENSP00000335017:S52C	S	-	2	0	C2orf53	27214547	0.022000	0.18835	0.003000	0.11579	0.009000	0.06853	1.745000	0.38278	0.194000	0.20326	-1.134000	0.01955	TCT	C2orf53	-	NULL		0.582	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf53	HGNC	protein_coding	OTTHUMT00000250188.1	G			27361043	-1	no_errors	ENST00000335524	ensembl	human	known	70_37	missense	SNP	0.003	C
C2orf49	79074	genome.wustl.edu	37	2	105954032	105954032	+	5'UTR	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:105954032C>G	ENST00000258457.2	+	0	217				C2orf49_ENST00000410049.1_5'UTR|RP11-332H14.2_ENST00000610036.1_lincRNA|C2orf49_ENST00000437250.2_Silent_p.L34L			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49						embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						ACTGGGGTCTCCTGGCGACGA	0.657																																																	0													21.0	25.0	23.0					2																	105954032		2202	4295	6497	SO:0001623	5_prime_UTR_variant	79074			BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.-13C>G	2.37:g.105954032C>G			B3KXN3|B4E2G9	Silent	SNP	NULL	p.L34	ENST00000258457.2	37	c.102	CCDS2068.1	2																																																																																			C2orf49	-	NULL		0.657	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf49	HGNC	protein_coding	OTTHUMT00000253353.2	C	NM_024093		105954032	+1	no_errors	ENST00000437250	ensembl	human	known	70_37	silent	SNP	1.000	G
C3orf30	152405	genome.wustl.edu	37	3	118865512	118865512	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:118865512C>A	ENST00000295622.1	+	1	516	c.476C>A	c.(475-477)tCt>tAt	p.S159Y	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	159								p.S159Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGAAGAACTTCTGGGCAGATT	0.527																																																	1	Substitution - Missense(1)	cervix(1)											58.0	58.0	58.0					3																	118865512		2203	4300	6503	SO:0001583	missense	152405			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.476C>A	3.37:g.118865512C>A	ENSP00000295622:p.Ser159Tyr		A1L4B7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.S159Y	ENST00000295622.1	37	c.476	CCDS2984.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.23|11.23	1.576784|1.576784	0.28092|0.28092	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000460150|ENST00000295622;ENST00000470341	.|T	.|0.23950	.|1.88	4.15|4.15	4.15|4.15	0.48705|0.48705	.|.	.|1.439890	.|0.04522	.|N	.|0.384845	T|T	0.39145|0.39145	0.1067|0.1067	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|D;D	.|0.69078	.|0.997;0.997	.|P;P	.|0.62560	.|0.904;0.904	T|T	0.33214|0.33214	-0.9877|-0.9877	5|10	.|0.52906	.|T	.|0.07	.|.	9.6025|9.6025	0.39612|0.39612	0.2085:0.7915:0.0:0.0|0.2085:0.7915:0.0:0.0	.|.	.|159;159	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	L|Y	122|159	.|ENSP00000295622:S159Y	.|ENSP00000295622:S159Y	F|S	+|+	3|2	2|0	C3orf30|C3orf30	120348202|120348202	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.013000|0.013000	0.08279|0.08279	-0.080000|-0.080000	0.11339|0.11339	2.617000|2.617000	0.88574|0.88574	0.563000|0.563000	0.77884|0.77884	TTC|TCT	C3orf30	-	NULL		0.527	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf30	HGNC	protein_coding	OTTHUMT00000354838.1	C	NM_152539		118865512	+1	no_errors	ENST00000295622	ensembl	human	known	70_37	missense	SNP	0.022	A
ZGRF1	55345	genome.wustl.edu	37	4	113482022	113482022	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:113482022C>T	ENST00000505019.1	-	19	4952	c.4827G>A	c.(4825-4827)ttG>ttA	p.L1609L		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1609						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L1609L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTACCTGAATCAACTCACTAG	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											170.0	152.0	158.0					4																	113482022		2203	4300	6503	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.4827G>A	4.37:g.113482022C>T			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.L1609	ENST00000505019.1	37	c.4827		4																																																																																			C4orf21	-	NULL		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113482022	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	silent	SNP	0.044	T
C6orf211	79624	genome.wustl.edu	37	6	151789691	151789691	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:151789691G>C	ENST00000367294.3	+	5	1031	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	C6orf211_ENST00000545879.1_Missense_Mutation_p.E139Q	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	258								p.E258Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTCTGGATTTGAGCTTGTTAC	0.353																																																	1	Substitution - Missense(1)	cervix(1)											132.0	136.0	135.0					6																	151789691		2203	4300	6503	SO:0001583	missense	79624			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.772G>C	6.37:g.151789691G>C	ENSP00000356263:p.Glu258Gln		Q96FC6|Q9UFY5	Missense_Mutation	SNP	pfam_DUF89,superfamily_DUF89	p.E258Q	ENST00000367294.3	37	c.772	CCDS5233.1	6	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005750	0.93287	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.27104	1.69;1.69	6.02	6.02	0.97574	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76179	-0.3054	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	258	Q9H993	CF211_HUMAN	Q	258;139	ENSP00000356263:E258Q;ENSP00000444121:E139Q	ENSP00000356263:E258Q	E	+	1	0	C6orf211	151831384	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.771000	0.98977	2.850000	0.98022	0.650000	0.86243	GAG	C6orf211	-	pfam_DUF89,superfamily_DUF89		0.353	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf211	HGNC	protein_coding	OTTHUMT00000042724.1	G	NM_024573		151789691	+1	no_errors	ENST00000367294	ensembl	human	known	70_37	missense	SNP	1.000	C
C9orf131	138724	genome.wustl.edu	37	9	35043372	35043372	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:35043372C>T	ENST00000312292.5	+	2	793	c.746C>T	c.(745-747)tCa>tTa	p.S249L	C9orf131_ENST00000421362.2_Missense_Mutation_p.S201L|C9orf131_ENST00000354479.5_Missense_Mutation_p.S176L|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	249								p.S249L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TATCACTCCTCAGCCCAGTTT	0.527																																																	1	Substitution - Missense(1)	cervix(1)											155.0	145.0	148.0					9																	35043372		2203	4300	6503	SO:0001583	missense	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.746C>T	9.37:g.35043372C>T	ENSP00000308279:p.Ser249Leu		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.S249L	ENST00000312292.5	37	c.746	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366494	0.41902	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	T;T;T;T	0.36878	2.17;2.15;2.18;1.23	5.1	2.21	0.28008	.	0.896303	0.09366	N	0.812059	T	0.32615	0.0835	L	0.55481	1.735	0.09310	N	1	B;B;B	0.14012	0.003;0.009;0.009	B;B;B	0.08055	0.003;0.003;0.003	T	0.28073	-1.0055	10	0.49607	T	0.09	0.2694	7.1888	0.25814	0.0:0.7157:0.0:0.2843	.	249;176;201	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	L	201;176;249;214	ENSP00000393683:S201L;ENSP00000346472:S176L;ENSP00000308279:S249L;ENSP00000368019:S214L	ENSP00000308279:S249L	S	+	2	0	C9orf131	35033372	0.011000	0.17503	0.004000	0.12327	0.045000	0.14185	0.353000	0.20130	0.736000	0.32559	0.650000	0.86243	TCA	C9orf131	-	NULL		0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	C	NM_203299		35043372	+1	no_errors	ENST00000312292	ensembl	human	known	70_37	missense	SNP	0.001	T
C9orf66	157983	genome.wustl.edu	37	9	214587	214587	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:214587C>G	ENST00000382387.2	-	1	1306	c.810G>C	c.(808-810)gcG>gcC	p.A270A	DOCK8_ENST00000453981.1_5'Flank|DOCK8_ENST00000432829.2_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	270								p.A270A(1)		central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCAGCCTCGCAGCTTCGG	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											30.0	31.0	31.0					9																	214587		2203	4300	6503	SO:0001819	synonymous_variant	157983			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.810G>C	9.37:g.214587C>G			Q96NB0	Silent	SNP	NULL	p.A270	ENST00000382387.2	37	c.810	CCDS6439.1	9																																																																																			C9orf66	-	NULL		0.677	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf66	HGNC	protein_coding	OTTHUMT00000055436.1	C	NM_152569		214587	-1	no_errors	ENST00000382387	ensembl	human	known	70_37	silent	SNP	0.000	G
C9orf3	84909	genome.wustl.edu	37	9	97741653	97741653	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:97741653G>C	ENST00000375315.2	+	10	1921	c.1921G>C	c.(1921-1923)Gag>Cag	p.E641Q	C9orf3_ENST00000297979.5_Missense_Mutation_p.E542Q	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	641					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.E641Q(1)|p.E542Q(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)		CTAAAGGCTTGAGCTGTCTGT	0.393																																																	2	Substitution - Missense(2)	cervix(2)											122.0	109.0	113.0					9																	97741653		2202	4299	6501	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.1921G>C	9.37:g.97741653G>C	ENSP00000364464:p.Glu641Gln		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.E641Q	ENST00000375315.2	37	c.1921	CCDS55328.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.29|15.29	2.789732|2.789732	0.50102|0.50102	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000375316|ENST00000451893	T;T;T;T|.	0.04970|.	3.52;3.52;3.52;3.52|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.529421|.	0.18387|.	N|.	0.142772|.	T|.	0.60183|.	0.2249|.	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999999|0.999999	D;B;B;B|.	0.63880|.	0.993;0.066;0.437;0.041|.	P;B;B;B|.	0.56865|.	0.808;0.078;0.175;0.024|.	T|.	0.55848|.	-0.8076|.	10|.	0.13108|.	T|.	0.6|.	-0.1356|-0.1356	13.9232|13.9232	0.63945|0.63945	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	60;641;542;542|.	E9PF71;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;AMPO_HUMAN;.;.|.	Q|S	542;641;365;423;60|40	ENSP00000297979:E542Q;ENSP00000364464:E641Q;ENSP00000402171:E365Q;ENSP00000401854:E423Q|.	ENSP00000297979:E542Q|.	E|X	+|+	1|2	0|2	C9orf3|C9orf3	96781474|96781474	0.294000|0.294000	0.24380|0.24380	0.007000|0.007000	0.13788|0.13788	0.810000|0.810000	0.45777|0.45777	4.971000|4.971000	0.63749|0.63749	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GAG|TGA	C9orf3	-	NULL		0.393	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		G	NM_032823		97741653	+1	no_errors	ENST00000375315	ensembl	human	known	70_37	missense	SNP	0.010	C
C9orf139	401563	genome.wustl.edu	37	9	139929366	139929366	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:139929366G>C	ENST00000314330.2	+	3	1947	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	145								p.E145Q(1)		cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGAACCTGCGAGCTGGCAAA	0.612																																																	1	Substitution - Missense(1)	cervix(1)											40.0	50.0	47.0					9																	139929366		2200	4283	6483	SO:0001583	missense	401563				CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.433G>C	9.37:g.139929366G>C	ENSP00000318119:p.Glu145Gln		A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	NULL	p.E145Q	ENST00000314330.2	37	c.433	CCDS7023.1	9	.	.	.	.	.	.	.	.	.	.	g	8.097	0.775722	0.16051	.	.	ENSG00000180539	ENST00000314330	T	0.55234	0.53	2.95	-5.9	0.02275	.	.	.	.	.	T	0.23014	0.0556	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.09751	-1.0660	9	0.31617	T	0.26	.	1.7508	0.02972	0.2547:0.4:0.1373:0.208	.	145	Q6ZV77	CI139_HUMAN	Q	145	ENSP00000318119:E145Q	ENSP00000318119:E145Q	E	+	1	0	C9orf139	139049187	0.000000	0.05858	0.000000	0.03702	0.437000	0.31866	-2.372000	0.01073	-2.512000	0.00503	0.290000	0.19541	GAG	C9orf139	-	NULL		0.612	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf139	HGNC	protein_coding	OTTHUMT00000055213.2	G	NM_207511		139929366	+1	no_errors	ENST00000314330	ensembl	human	known	70_37	missense	SNP	0.000	C
CA10	56934	genome.wustl.edu	37	17	49710951	49710951	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:49710951C>T	ENST00000285273.4	-	9	1961	c.850G>A	c.(850-852)Gac>Aac	p.D284N	CA10_ENST00000340813.6_Missense_Mutation_p.D290N|CA10_ENST00000442502.2_Missense_Mutation_p.D284N|CA10_ENST00000570565.1_Missense_Mutation_p.D209N|CA10_ENST00000451037.2_Missense_Mutation_p.D284N|CA10_ENST00000571918.1_5'Flank	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	284					brain development (GO:0007420)			p.D284N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CTGAAGTTGTCACTCATGCTC	0.527																																																	1	Substitution - Missense(1)	cervix(1)											111.0	95.0	100.0					17																	49710951		2203	4300	6503	SO:0001583	missense	56934			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.850G>A	17.37:g.49710951C>T	ENSP00000285273:p.Asp284Asn		B2R7J0|B4DGL6	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.D290N	ENST00000285273.4	37	c.868	CCDS32684.1	17	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929589	0.52759	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.44	5.44	0.79542	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	N	0.25825	0.765	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.565	D;D;B	0.74674	0.984;0.984;0.401	T	0.64892	-0.6300	10	0.02654	T	1	.	18.2623	0.90039	0.0:1.0:0.0:0.0	.	284;290;209	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	N	284;284;284;290	ENSP00000390666:D284N;ENSP00000285273:D284N;ENSP00000405388:D284N;ENSP00000340363:D290N	ENSP00000285273:D284N	D	-	1	0	CA10	47065950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	2.558000	0.86282	0.655000	0.94253	GAC	CA10	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.527	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	C	NM_020178		49710951	-1	no_errors	ENST00000340813	ensembl	human	known	70_37	missense	SNP	1.000	T
CA14	23632	genome.wustl.edu	37	1	150234978	150234978	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:150234978G>C	ENST00000369111.4	+	5	1424	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	152					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.R153fs*12(1)|p.E152Q(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TGAGGCTGCTGAGAGGCCTCA	0.522																																																	2	Substitution - Missense(1)|Deletion - Frameshift(1)	cervix(1)|large_intestine(1)											121.0	119.0	120.0					1																	150234978		2203	4300	6503	SO:0001583	missense	23632			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.454G>C	1.37:g.150234978G>C	ENSP00000358107:p.Glu152Gln		Q5TB24|Q8NCF4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.E152Q	ENST00000369111.4	37	c.454	CCDS947.1	1	.	.	.	.	.	.	.	.	.	.	G	5.725	0.318265	0.10845	.	.	ENSG00000118298	ENST00000369111	T	0.66815	-0.23	5.95	3.01	0.34805	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.870672	0.10403	N	0.678908	T	0.11750	0.0286	N	0.01188	-0.97	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35624	-0.9781	10	0.05833	T	0.94	.	8.9682	0.35890	0.2776:0.449:0.2735:0.0	.	152	Q9ULX7	CAH14_HUMAN	Q	152	ENSP00000358107:E152Q	ENSP00000358107:E152Q	E	+	1	0	CA14	148501602	0.000000	0.05858	0.006000	0.13384	0.625000	0.37756	0.010000	0.13242	0.378000	0.24764	-0.232000	0.12228	GAG	CA14	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.522	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2	G	NM_012113		150234978	+1	no_errors	ENST00000369111	ensembl	human	known	70_37	missense	SNP	0.001	C
CACNA1C	775	genome.wustl.edu	37	12	2613650	2613650	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:2613650C>A	ENST00000399617.1	+	8	1162	c.1162C>A	c.(1162-1164)Ctg>Atg	p.L388M	CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L388M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L388M|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L388M|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L388M|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000344100.3_Intron	NM_001167624.1	NP_001161096.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	388					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L388M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTTGTCAGTCTGGTCATCTT	0.473																																																	1	Substitution - Missense(1)	cervix(1)											332.0	275.0	293.0					12																	2613650		1568	3582	5150	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399617.1:c.1162C>A	12.37:g.2613650C>A	ENSP00000382526:p.Leu388Met		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L388M	ENST00000399617.1	37	c.1162	CCDS53733.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294841	0.81025	.	.	ENSG00000151067	ENST00000399641;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000322367	D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	D	0.99052	0.9675	M	0.78344	2.41	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.993;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.956;0.998;0.947;0.999;0.999;0.994	D	0.99402	1.0928	10	0.44086	T	0.13	.	18.5817	0.91174	0.0:1.0:0.0:0.0	.	17;388;359;388;388;388	Q5V9X8;Q13936-23;Q13936-28;E9PDJ1;E9PDJ0;F5GY28	.;.;.;.;.;.	M	388;388;388;388;388;229	ENSP00000382549:L388M;ENSP00000382512:L388M;ENSP00000382542:L388M;ENSP00000382526:L388M;ENSP00000385896:L388M	ENSP00000323129:L229M	L	+	1	2	CACNA1C	2483911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.619000	0.88677	0.561000	0.74099	CTG	CACNA1C	-	pfam_Ion_trans_dom		0.473	CACNA1C-013	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317031.1	C	NM_000719		2613650	+1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1C	775	genome.wustl.edu	37	12	2690928	2690928	+	Missense_Mutation	SNP	G	G	C	rs369638898		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:2690928G>C	ENST00000347598.4	+	14	2068	c.2068G>C	c.(2068-2070)Gat>Cat	p.D690H	CACNA1C_ENST00000399638.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D690H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D690H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D690H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D715H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D690H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D690H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	690					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.D690H(3)|p.D720H(1)|p.D225H(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCACATTCGATAACTTCCC	0.542																																																	5	Substitution - Missense(5)	cervix(5)											86.0	91.0	90.0					12																	2690928		2176	4294	6470	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2068G>C	12.37:g.2690928G>C	ENSP00000266376:p.Asp690His		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.D690H	ENST00000347598.4	37	c.2068	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550948	0.86127	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	4.62	4.62	0.57501	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98698	0.9563	M	0.90705	3.14	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.989;0.969;0.999;0.98;0.997;0.969;0.997;0.994;0.995;0.997;0.969;1.0;0.995;0.997;0.998;0.999;1.0;0.997;1.0;0.969;0.997;0.997;0.969;0.999;0.969	D;P;D;D;D;P;D;D;D;D;P;D;D;D;D;D;D;D;D;P;D;D;P;D;P	0.83275	0.915;0.834;0.985;0.915;0.949;0.834;0.949;0.974;0.952;0.949;0.834;0.996;0.949;0.938;0.97;0.98;0.988;0.949;0.988;0.834;0.949;0.949;0.834;0.958;0.834	D	0.99651	1.0991	10	0.87932	D	0	.	17.9871	0.89159	0.0:0.0:1.0:0.0	.	690;687;690;690;690;690;690;690;690;690;690;661;690;690;690;690;690;690;690;690;690;690;690;690;690	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	715;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;531	ENSP00000336982:D715H;ENSP00000382563:D690H;ENSP00000437936:D690H;ENSP00000382552:D690H;ENSP00000382547:D690H;ENSP00000382506:D690H;ENSP00000382530:D690H;ENSP00000382546:D690H;ENSP00000382500:D690H;ENSP00000382549:D690H;ENSP00000266376:D690H;ENSP00000382515:D690H;ENSP00000382510:D690H;ENSP00000341092:D690H;ENSP00000382537:D690H;ENSP00000329877:D690H;ENSP00000382557:D690H;ENSP00000385724:D690H;ENSP00000382512:D690H;ENSP00000382542:D690H;ENSP00000382526:D690H;ENSP00000385896:D690H;ENSP00000382504:D690H	ENSP00000323129:D531H	D	+	1	0	CACNA1C	2561189	1.000000	0.71417	0.847000	0.33407	0.868000	0.49771	7.742000	0.85008	2.554000	0.86153	0.491000	0.48974	GAT	CACNA1C	-	pfam_Ion_trans_dom,prints_VDCCAlpha1,prints_VDCC_L_a1su		0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	G	NM_000719		2690928	+1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	C
CACNA1C	775	genome.wustl.edu	37	12	2719826	2719826	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:2719826C>T	ENST00000347598.4	+	29	3738	c.3738C>T	c.(3736-3738)ttC>ttT	p.F1246F	CACNA1C_ENST00000399638.1_Silent_p.F1226F|CACNA1C_ENST00000399595.1_Silent_p.F1226F|CACNA1C_ENST00000399603.1_Silent_p.F1226F|CACNA1C_ENST00000406454.3_Silent_p.F1226F|CACNA1C_ENST00000402845.3_Silent_p.F1226F|CACNA1C_ENST00000399617.1_Silent_p.F1226F|CACNA1C_ENST00000399591.1_Silent_p.F1226F|CACNA1C_ENST00000399597.1_Silent_p.F1226F|CACNA1C_ENST00000327702.7_Silent_p.F1226F|CACNA1C_ENST00000399601.1_Silent_p.F1226F|CACNA1C_ENST00000399621.1_Silent_p.F1226F|CACNA1C_ENST00000399649.1_Silent_p.F1226F|CACNA1C_ENST00000399634.1_Silent_p.F1226F|CACNA1C_ENST00000399644.1_Silent_p.F1226F|CACNA1C_ENST00000480911.1_Silent_p.F1226F|CACNA1C_ENST00000399637.1_Silent_p.F1226F|CACNA1C_ENST00000399629.1_Silent_p.F1226F|CACNA1C_ENST00000399641.1_Silent_p.F1226F|CACNA1C_ENST00000399655.1_Silent_p.F1226F|CACNA1C_ENST00000335762.5_Silent_p.F1251F|CACNA1C_ENST00000399606.1_Silent_p.F1246F|CACNA1C_ENST00000344100.3_Silent_p.F1226F	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1246					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F1226F(2)|p.F1246F(1)|p.F1276F(1)|p.F761F(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTGATGTTCGTCCTCATCC	0.587																																																	5	Substitution - coding silent(5)	cervix(5)											106.0	109.0	108.0					12																	2719826		2200	4300	6500	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3738C>T	12.37:g.2719826C>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.F1226	ENST00000347598.4	37	c.3678	CCDS44788.1	12																																																																																			CACNA1C	-	NULL		0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2719826	+1	no_errors	ENST00000399634	ensembl	human	known	70_37	silent	SNP	0.994	T
CACNA1G	8913	genome.wustl.edu	37	17	48694863	48694863	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:48694863G>C	ENST00000359106.5	+	29	5086	c.5086G>C	c.(5086-5088)Gag>Cag	p.E1696Q	CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1696Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1696Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1678Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1662Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1651Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1662Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1703Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1685Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1644Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1685Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1639Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1673Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1678Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1662Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1685Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1678Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1651Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.E1662Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1696Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1655Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1696Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1685Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1673Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1662Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1696					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAGGAAATCGAGGTCAACGC	0.617																																																	0													70.0	72.0	71.0					17																	48694863		2168	4267	6435	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5086G>C	17.37:g.48694863G>C	ENSP00000352011:p.Glu1696Gln		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.E1696Q	ENST00000359106.5	37	c.5086	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	25.2	4.611915	0.87258	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	5.02	5.02	0.67125	Ion transport (1);	0.000000	0.64402	D	0.000012	D	0.98441	0.9481	L	0.52011	1.625	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;P;D;D;D	0.89917	0.993;0.999;0.999;0.998;1.0;1.0;0.999;0.999;0.999;0.998;1.0;0.996;0.994;1.0;0.999;0.999;1.0;0.858;1.0;1.0;0.999;0.945;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;P;D;D;D;P;D;D;D	0.91635	0.988;0.99;0.999;0.998;0.996;0.999;0.998;0.992;0.998;0.983;0.99;0.896;0.969;0.995;0.996;0.983;0.989;0.734;0.996;0.997;0.996;0.888;0.99;0.99;0.999	D	0.99113	1.0847	10	0.42905	T	0.14	.	18.3653	0.90389	0.0:0.0:1.0:0.0	.	1639;1651;1644;1678;1651;1678;1703;1662;1696;1685;1696;1673;1685;1685;1678;1685;1696;1673;1696;1662;1655;1662;1673;1696;1662	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	Q	1673;1662;1662;1655;1673;1685;1651;1639;1644;1662;1696;1685;1651;1696;1662;1696;1678;1685;1703;1662;1696;1678;1678;1696;1685	ENSP00000353990:E1673Q;ENSP00000339302:E1662Q;ENSP00000347078:E1662Q;ENSP00000409759:E1655Q;ENSP00000425522:E1673Q;ENSP00000426261:E1685Q;ENSP00000425451:E1651Q;ENSP00000422407:E1639Q;ENSP00000426814:E1644Q;ENSP00000427238:E1662Q;ENSP00000423112:E1696Q;ENSP00000420918:E1685Q;ENSP00000426172:E1651Q;ENSP00000423045:E1696Q;ENSP00000427173:E1662Q;ENSP00000426098:E1696Q;ENSP00000425698:E1678Q;ENSP00000426232:E1685Q;ENSP00000423317:E1703Q;ENSP00000350979:E1662Q;ENSP00000352011:E1696Q;ENSP00000414388:E1678Q;ENSP00000423155:E1678Q;ENSP00000422268:E1696Q;ENSP00000421518:E1685Q	ENSP00000339302:E1662Q	E	+	1	0	CACNA1G	46049862	1.000000	0.71417	0.963000	0.40424	0.779000	0.44077	8.006000	0.88564	2.348000	0.79779	0.655000	0.94253	GAG	CACNA1G	-	pfam_Ion_trans_dom		0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	G	NM_018896		48694863	+1	no_errors	ENST00000359106	ensembl	human	known	70_37	missense	SNP	1.000	C
CACNA1I	8911	genome.wustl.edu	37	22	40043865	40043865	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:40043865C>T	ENST00000402142.3	+	9	1501	c.1501C>T	c.(1501-1503)Ctc>Ttc	p.L501F	CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000336649.4_Missense_Mutation_p.L501F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L501F|CACNA1I_ENST00000404898.1_Intron	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	501					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.L501F(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	agggaGACATCTCGGAAGCCG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											65.0	69.0	68.0					22																	40043865		1926	4111	6037	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1501C>T	22.37:g.40043865C>T	ENSP00000385019:p.Leu501Phe		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L501F	ENST00000402142.3	37	c.1501	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	0.054	-1.242730	0.01481	.	.	ENSG00000100346	ENST00000402142;ENST00000401624;ENST00000336649	D;D;D	0.96940	-4.14;-4.13;-4.18	2.34	-4.67	0.03319	.	3.116750	0.01710	U	0.027679	D	0.89989	0.6875	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.80538	-0.1338	10	0.32370	T	0.25	.	1.1289	0.01741	0.1498:0.2212:0.3601:0.2688	.	501;501	Q9P0X4-2;Q9P0X4	.;CAC1I_HUMAN	F	501	ENSP00000385019:L501F;ENSP00000383887:L501F;ENSP00000337829:L501F	ENSP00000337829:L501F	L	+	1	0	CACNA1I	38373811	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.076000	0.03420	-1.119000	0.02958	-0.251000	0.11542	CTC	CACNA1I	-	NULL		0.557	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	C	NM_001003406		40043865	+1	no_errors	ENST00000336649	ensembl	human	known	70_37	missense	SNP	0.000	T
CACNA2D1	781	genome.wustl.edu	37	7	81624244	81624244	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:81624244C>G	ENST00000356253.5	-	21	1986	c.1731G>C	c.(1729-1731)aaG>aaC	p.K577N	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K558N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	577					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K558N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CATCAATCATCTTATTTCGAA	0.299																																																	1	Substitution - Missense(1)	cervix(1)											71.0	70.0	70.0					7																	81624244		2200	4288	6488	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1731G>C	7.37:g.81624244C>G	ENSP00000348589:p.Lys577Asn		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.K577N	ENST00000356253.5	37	c.1731		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.44|17.44	3.389196|3.389196	0.61956|0.61956	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253|ENST00000443883	T;T|.	0.78707|.	-1.2;-1.2|.	5.29|5.29	1.65|1.65	0.23941|0.23941	.|.	0.047580|.	0.85682|.	D|.	0.000000|.	T|T	0.49915|0.49915	0.1585|0.1585	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	P|.	0.36789|.	0.57|.	B|.	0.39258|.	0.295|.	T|T	0.26258|0.26258	-1.0108|-1.0108	10|5	0.59425|.	D|.	0.04|.	-25.3952|-25.3952	8.6043|8.6043	0.33764|0.33764	0.0:0.2281:0.0:0.7719|0.0:0.2281:0.0:0.7719	.|.	558|.	P54289-2|.	.|.	N|T	558;577;577|76	ENSP00000349320:K558N;ENSP00000348589:K577N|.	ENSP00000284088:K577N|.	K|R	-|-	3|2	2|0	CACNA2D1|CACNA2D1	81462180|81462180	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.982000|0.982000	0.71751|0.71751	2.056000|2.056000	0.41355|0.41355	0.034000|0.034000	0.15491|0.15491	-0.302000|-0.302000	0.09304|0.09304	AAG|AGA	CACNA2D1	-	pfam_VDCC_a2/dsu		0.299	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		C			81624244	-1	no_errors	ENST00000356253	ensembl	human	known	70_37	missense	SNP	1.000	G
CAGE1	285782	genome.wustl.edu	37	6	7373584	7373584	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:7373584C>T	ENST00000512086.1	-	5	1670	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	CAGE1_ENST00000296742.7_Missense_Mutation_p.E354K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E490K|CAGE1_ENST00000338150.4_Missense_Mutation_p.E490K|CAGE1_ENST00000502583.1_Missense_Mutation_p.E490K|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	490								p.E490K(2)|p.E354K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTCTGGAATTCCTCCTGTAAA	0.383																																																	3	Substitution - Missense(3)	cervix(3)											55.0	47.0	50.0					6																	7373584		1803	4070	5873	SO:0001583	missense	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1468G>A	6.37:g.7373584C>T	ENSP00000427583:p.Glu490Lys		D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	NULL	p.E490K	ENST00000512086.1	37	c.1468		6	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283500	0.80803	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000027	T	0.54967	0.1891	M	0.65498	2.005	0.37598	D	0.920463	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.60929	-0.7165	10	0.87932	D	0	-18.8878	14.3226	0.66496	0.0:1.0:0.0:0.0	.	490;490;490	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	K	490;490;490;354;490;490;490;502	ENSP00000369250:E490K;ENSP00000425493:E490K;ENSP00000296742:E354K;ENSP00000427583:E490K;ENSP00000338107:E490K;ENSP00000423789:E502K	ENSP00000296742:E354K	E	-	1	0	CAGE1	7318583	0.990000	0.36364	1.000000	0.80357	0.923000	0.55619	2.043000	0.41231	2.450000	0.82876	0.591000	0.81541	GAA	CAGE1	-	NULL		0.383	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1	C	NM_175745		7373584	-1	no_errors	ENST00000338150	ensembl	human	known	70_37	missense	SNP	1.000	T
CALD1	800	genome.wustl.edu	37	7	134618280	134618280	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:134618280C>A	ENST00000361675.2	+	5	989	c.760C>A	c.(760-762)Cat>Aat	p.H254N	CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000422748.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	254					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.H254N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GATTTCCCATCATGAAAAGAT	0.433																																																	1	Substitution - Missense(1)	cervix(1)											52.0	53.0	53.0					7																	134618280		2203	4300	6503	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.760C>A	7.37:g.134618280C>A	ENSP00000354826:p.His254Asn		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.H254N	ENST00000361675.2	37	c.760	CCDS5835.1	7	.	.	.	.	.	.	.	.	.	.	C	0.449	-0.894773	0.02491	.	.	ENSG00000122786	ENST00000361675	T	0.40225	1.04	4.97	-9.94	0.00449	.	1.726380	0.04059	N	0.306073	T	0.19485	0.0468	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15065	-1.0450	9	.	.	.	0.7857	12.0924	0.53736	0.154:0.5781:0.268:0.0	.	254	Q05682	CALD1_HUMAN	N	254	ENSP00000354826:H254N	.	H	+	1	0	CALD1	134268820	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.324000	0.02690	-2.129000	0.00817	-1.098000	0.02139	CAT	CALD1	-	pfam_Caldesmon_LSP		0.433	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	C	NM_033138		134618280	+1	no_errors	ENST00000361675	ensembl	human	novel	70_37	missense	SNP	0.000	A
CALM3	808	genome.wustl.edu	37	19	47109107	47109107	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:47109107G>C	ENST00000291295.9	+	2	226	c.27G>C	c.(25-27)caG>caC	p.Q9H	CALM3_ENST00000391918.2_5'UTR|CALM3_ENST00000594523.1_5'UTR|CALM3_ENST00000599839.1_5'UTR|CALM3_ENST00000598871.1_Intron|CALM3_ENST00000596362.1_Missense_Mutation_p.Q9H|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000597743.1_Missense_Mutation_p.Q9H	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	9	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.Q9H(1)		breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	CTGAGGAGCAGATTGCAGGTG	0.552																																																	1	Substitution - Missense(1)	cervix(1)											184.0	147.0	159.0					19																	47109107		2203	4300	6503	SO:0001583	missense	808				CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"""EF-hand domain containing"", ""Endogenous ligands"""	1449	protein-coding gene	gene with protein product	"""prepro-calmodulin 3"""	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.27G>C	19.37:g.47109107G>C	ENSP00000291295:p.Gln9His		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.Q9H	ENST00000291295.9	37	c.27	CCDS33061.1	19	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503256	0.26949	.	.	ENSG00000160014	ENST00000291295;ENST00000391918	D	0.86297	-2.1	4.31	3.28	0.37604	.	0.000000	0.43110	D	0.000605	D	0.88280	0.6394	L	0.57130	1.785	0.58432	D	0.999999	.	.	.	.	.	.	D	0.87983	0.2744	8	0.87932	D	0	-27.3471	9.9583	0.41680	0.0999:0.0:0.9001:0.0	.	.	.	.	H	9	ENSP00000291295:Q9H	ENSP00000291295:Q9H	Q	+	3	2	CALM3	51800947	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.714000	0.61902	1.035000	0.39972	0.561000	0.74099	CAG	CALM3	-	pfscan_EF_HAND_2,prints_Recoverin		0.552	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALM3	HGNC	protein_coding	OTTHUMT00000257483.2	G			47109107	+1	no_errors	ENST00000291295	ensembl	human	known	70_37	missense	SNP	1.000	C
CAMK2B	816	genome.wustl.edu	37	7	44268527	44268527	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:44268527G>C	ENST00000395749.2	-	19	1416				CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000489429.1_5'UTR	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta						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)	p.?(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CTGGGGGCTGGGGTGGAACAG	0.652																																																	1	Unknown(1)	cervix(1)											19.0	21.0	20.0					7																	44268527		2178	4274	6452	SO:0001627	intron_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.1340-4C>G	7.37:g.44268527G>C			A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	RNA	SNP	-	NULL	ENST00000395749.2	37	NULL	CCDS5483.1	7																																																																																			CAMK2B	-	-		0.652	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	G	NM_172084		44268527	-1	no_errors	ENST00000489429	ensembl	human	known	70_37	rna	SNP	1.000	C
CAMLG	819	genome.wustl.edu	37	5	134086562	134086562	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:134086562C>T	ENST00000297156.2	+	4	933	c.813C>T	c.(811-813)ttC>ttT	p.F271F	CAMLG_ENST00000514518.1_3'UTR	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	271					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.F271F(1)		NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	GCGAAGTCTTCACAGATCTCT	0.408																																																	1	Substitution - coding silent(1)	cervix(1)											171.0	168.0	169.0					5																	134086562		2203	4300	6503	SO:0001819	synonymous_variant	819			AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"""calcium-modulating cyclophilin ligand"", ""calcium-signal modulating cyclophilin ligand"", ""cyclophilin B-binding protein"""	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.813C>T	5.37:g.134086562C>T			A1L3Y3	Silent	SNP	pirsf_Ca_signal-mod_cyclophilin_lig	p.F271	ENST00000297156.2	37	c.813	CCDS4178.1	5																																																																																			CAMLG	-	pirsf_Ca_signal-mod_cyclophilin_lig		0.408	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMLG	HGNC	protein_coding	OTTHUMT00000251161.1	C	NM_001745		134086562	+1	no_errors	ENST00000297156	ensembl	human	known	70_37	silent	SNP	1.000	T
CAPN3	825	genome.wustl.edu	37	15	42680062	42680062	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:42680062C>G	ENST00000397163.3	+	4	829	c.610C>G	c.(610-612)Ctg>Gtg	p.L204V	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.L117V|CAPN3_ENST00000318023.7_Missense_Mutation_p.L204V|CAPN3_ENST00000357568.3_Missense_Mutation_p.L204V|CAPN3_ENST00000349748.3_Missense_Mutation_p.L204V	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	204	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		Missing (in LGMD2A). {ECO:0000269|PubMed:9452114}.		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L117V(1)|p.L204V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CTGGAGTGCTCTGCTGGAGAA	0.498																																																	2	Substitution - Missense(2)	cervix(2)											185.0	159.0	168.0					15																	42680062		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.610C>G	15.37:g.42680062C>G	ENSP00000380349:p.Leu204Val		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L204V	ENST00000397163.3	37	c.610	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131500	0.77549	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.99338	-5.76;-5.76;-5.76;-5.76;-5.76	5.94	5.94	0.96194	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.64402	U	0.000010	D	0.99579	0.9848	H	0.96604	3.85	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;0.999;0.999;0.998;0.999;1.0	D;D;D;D;D;D	0.97110	0.977;0.999;0.997;0.975;0.999;1.0	D	0.98266	1.0501	10	0.87932	D	0	.	10.6779	0.45797	0.0:0.8588:0.0:0.1412	.	117;117;204;204;204;117	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	V	117;204;204;204;204	ENSP00000348667:L117V;ENSP00000380349:L204V;ENSP00000350181:L204V;ENSP00000183936:L204V;ENSP00000326281:L204V	ENSP00000326281:L204V	L	+	1	2	CAPN3	40467354	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.954000	0.63631	2.826000	0.97356	0.561000	0.74099	CTG	CAPN3	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.498	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	C			42680062	+1	no_errors	ENST00000397163	ensembl	human	known	70_37	missense	SNP	1.000	G
CAPN6	827	genome.wustl.edu	37	X	110497608	110497608	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:110497608C>T	ENST00000324068.1	-	3	356	c.189G>A	c.(187-189)ctG>ctA	p.L63L	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	63	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.L63L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGCCCACAATCAGATGGGGGT	0.468																																																	1	Substitution - coding silent(1)	cervix(1)											132.0	111.0	118.0					X																	110497608		2203	4300	6503	SO:0001819	synonymous_variant	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.189G>A	X.37:g.110497608C>T			D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L63	ENST00000324068.1	37	c.189	CCDS14555.1	X																																																																																			CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.468	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	C			110497608	-1	no_errors	ENST00000324068	ensembl	human	known	70_37	silent	SNP	1.000	T
CASKIN1	57524	genome.wustl.edu	37	16	2236729	2236729	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:2236729C>T	ENST00000343516.6	-	10	1119	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	343	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.E172K(2)|p.E343K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ACAATGGCCTCGCCCAGGGAG	0.672																																																	4	Substitution - Missense(4)	cervix(2)|prostate(2)											34.0	38.0	37.0					16																	2236729		1994	4151	6145	SO:0001583	missense	57524			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1027G>A	16.37:g.2236729C>T	ENSP00000345436:p.Glu343Lys		Q9P2P0	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,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain	p.E343K	ENST00000343516.6	37	c.1027	CCDS42103.1	16	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206620	0.79127	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.19394	2.15	4.65	4.65	0.58169	Src homology-3 domain (3);	.	.	.	.	T	0.41766	0.1173	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.26326	-1.0106	9	0.72032	D	0.01	-34.8267	16.6164	0.84917	0.0:1.0:0.0:0.0	.	343	Q8WXD9	CSKI1_HUMAN	K	343;172	ENSP00000345436:E343K	ENSP00000345436:E343K	E	-	1	0	CASKIN1	2176730	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.543000	0.82106	2.577000	0.86979	0.563000	0.77884	GAG	CASKIN1	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN1	HGNC	protein_coding	OTTHUMT00000435055.1	C	NM_020764		2236729	-1	no_errors	ENST00000343516	ensembl	human	known	70_37	missense	SNP	1.000	T
CAT	847	genome.wustl.edu	37	11	34472557	34472557	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:34472557C>T	ENST00000241052.4	+	3	350	c.261C>T	c.(259-261)gtC>gtT	p.V87V		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	87					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.V87V(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACTTTGAGGTCACACATGACA	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											235.0	226.0	229.0					11																	34472557		2202	4298	6500	SO:0001819	synonymous_variant	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.261C>T	11.37:g.34472557C>T			A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Silent	SNP	pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase	p.V87	ENST00000241052.4	37	c.261	CCDS7891.1	11																																																																																			CAT	-	pfam_Catalase_core,superfamily_Catalase-like_dom		0.458	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	HGNC	protein_coding	OTTHUMT00000103197.2	C	NM_001752		34472557	+1	no_errors	ENST00000241052	ensembl	human	known	70_37	silent	SNP	0.989	T
CBWD5	220869	genome.wustl.edu	37	9	70490008	70490008	+	Missense_Mutation	SNP	C	C	G	rs371887218		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:70490008C>G	ENST00000382405.3	-	1	238	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q	CBWD5_ENST00000377395.4_Missense_Mutation_p.E21Q|CBWD5_ENST00000429800.2_Missense_Mutation_p.E21Q|CBWD5_ENST00000430059.2_Missense_Mutation_p.E21Q|CBWD5_ENST00000377392.5_5'Flank|CBWD5_ENST00000377384.1_Missense_Mutation_p.E21Q			Q5RIA9	CBWD5_HUMAN	COBW domain containing 5	21							ATP binding (GO:0005524)								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GGAACCAATTCAGGACAATCC	0.547																																																	0								C	GLN/GLU	1,3279		0,1,1639	12.0	13.0	13.0		61	3.1	1.0	9		13	0,6666		0,0,3333	no	missense	CBWD5	NM_001024916.2	29	0,1,4972	GG,GC,CC		0.0,0.0305,0.0101	possibly-damaging	21/348	70490008	1,9945	1640	3333	4973	SO:0001583	missense	220869			BC067803, BC082271	CCDS75841.1, CCDS75843.1, CCDS75844.1	9q13	2005-08-23			ENSG00000147996	ENSG00000147996			24584	protein-coding gene	gene with protein product	"""dopamine responsive protein"""						Standard	XM_005272748		Approved		uc004ack.3	Q5RIA9	OTTHUMG00000013336	ENST00000382405.3:c.61G>C	9.37:g.70490008C>G	ENSP00000371842:p.Glu21Gln		Q8N7U8	Missense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C	p.E21Q	ENST00000382405.3	37	c.61		9	.	.	.	.	.	.	.	.	.	.	.	21.4	4.138504	0.77775	3.05E-4	0.0	ENSG00000147996	ENST00000382405;ENST00000377395;ENST00000430059;ENST00000429800;ENST00000377384	T;T;T;T;T	0.46063	3.05;3.03;3.05;3.04;0.88	3.14	3.14	0.36123	.	0.107611	0.64402	D	0.000008	T	0.46908	0.1417	L	0.31578	0.945	0.80722	D	1	P;D;D	0.71674	0.953;0.998;0.969	P;D;P	0.65684	0.631;0.937;0.451	T	0.36672	-0.9738	10	0.34782	T	0.22	-15.0125	12.1452	0.54020	0.0:1.0:0.0:0.0	.	21;21;21	B4DNG9;Q5RIA9-3;Q5RIA9	.;.;CBWD5_HUMAN	Q	21	ENSP00000371842:E21Q;ENSP00000366612:E21Q;ENSP00000397999:E21Q;ENSP00000405076:E21Q;ENSP00000366601:E21Q	ENSP00000366601:E21Q	E	-	1	0	CBWD5	69729828	1.000000	0.71417	0.980000	0.43619	0.937000	0.57800	6.152000	0.71812	1.738000	0.51689	0.393000	0.25936	GAA	CBWD5	-	NULL		0.547	CBWD5-001	KNOWN	basic|appris_principal	protein_coding	CBWD5	HGNC	protein_coding	OTTHUMT00000037131.2	C			70490008	-1	no_errors	ENST00000382405	ensembl	human	known	70_37	missense	SNP	0.998	G
CBX3	11335	genome.wustl.edu	37	7	26242451	26242451	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:26242451G>C	ENST00000337620.4	+	2	400				HNRNPA2B1_ENST00000356674.7_5'Flank|CBX3_ENST00000497498.1_3'UTR|HNRNPA2B1_ENST00000354667.4_5'Flank|CBX3_ENST00000409747.1_Intron|CBX3_ENST00000396386.2_Intron	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						ATGTAGGTAGGAGCGCAGATC	0.408																																																	0																																										SO:0001627	intron_variant	11335			U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.-28-140G>C	7.37:g.26242451G>C			Q96CD7|Q99409|Q9BVS3|Q9P0Z6	RNA	SNP	-	NULL	ENST00000337620.4	37	NULL	CCDS5398.1	7																																																																																			CBX3	-	-		0.408	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX3	HGNC	protein_coding	OTTHUMT00000214117.1	G	NM_007276		26242451	+1	no_errors	ENST00000497498	ensembl	human	known	70_37	rna	SNP	0.001	C
CCAR1	55749	genome.wustl.edu	37	10	70532748	70532748	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:70532748G>C	ENST00000265872.6	+	19	2661	c.2542G>C	c.(2542-2544)Gaa>Caa	p.E848Q	CCAR1_ENST00000535016.1_Missense_Mutation_p.E833Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.E833Q	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	848	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)	p.E848Q(1)		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						ATTATAGAAAGAAGATAAAAG	0.358																																																	1	Substitution - Missense(1)	cervix(1)											45.0	45.0	45.0					10																	70532748		2201	4292	6493	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.2542G>C	10.37:g.70532748G>C	ENSP00000265872:p.Glu848Gln		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.E848Q	ENST00000265872.6	37	c.2542	CCDS7282.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.04|15.04	2.714255|2.714255	0.48622|0.48622	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000483471|ENST00000543706	T;T;T;T|.	0.26810|.	1.71;1.71;1.71;1.72|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.297247|.	0.34555|.	N|.	0.003873|.	T|T	0.49966|0.49966	0.1588|0.1588	N|N	0.24115|0.24115	0.695|0.695	0.34989|0.34989	D|D	0.754803|0.754803	B|.	0.33694|.	0.421|.	B|.	0.27076|.	0.076|.	T|T	0.56245|0.56245	-0.8011|-0.8011	10|5	0.27785|.	T|.	0.31|.	-22.4618|-22.4618	18.5047|18.5047	0.90893|0.90893	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	848|.	Q8IX12|.	CCAR1_HUMAN|.	Q|T	848;833;833;833;13|137	ENSP00000265872:E848Q;ENSP00000441820:E833Q;ENSP00000445254:E833Q;ENSP00000439252:E833Q|.	ENSP00000265872:E848Q|.	E|R	+|+	1|2	0|0	CCAR1|CCAR1	70202754|70202754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.860000|0.860000	0.49131|0.49131	7.743000|7.743000	0.85020|0.85020	2.526000|2.526000	0.85167|0.85167	0.557000|0.557000	0.71058|0.71058	GAA|AGA	CCAR1	-	NULL		0.358	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	G	NM_018237		70532748	+1	no_errors	ENST00000265872	ensembl	human	known	70_37	missense	SNP	1.000	C
CCBL2	56267	genome.wustl.edu	37	1	89408752	89408752	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:89408752G>A	ENST00000260508.4	-	13	1575	c.1238C>T	c.(1237-1239)tCa>tTa	p.S413L	CCBL2_ENST00000370491.3_Missense_Mutation_p.S379L|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	413					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.S413L(1)|p.S379L(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		ACAGAATGCTGAAACGGGGAT	0.313																																																	2	Substitution - Missense(2)	cervix(2)											120.0	131.0	127.0					1																	89408752		2203	4300	6503	SO:0001583	missense	56267			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.1238C>T	1.37:g.89408752G>A	ENSP00000260508:p.Ser413Leu		B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.S413L	ENST00000260508.4	37	c.1238	CCDS30766.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.116171	0.94339	.	.	ENSG00000137944	ENST00000370491;ENST00000260508	D;D	0.91464	-2.85;-2.85	5.06	5.06	0.68205	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.120911	0.53938	N	0.000048	D	0.96005	0.8699	M	0.93978	3.48	0.80722	D	1	D	0.59767	0.986	P	0.61533	0.89	D	0.96831	0.9611	10	0.87932	D	0	-27.1128	18.7894	0.91968	0.0:0.0:1.0:0.0	.	413	Q6YP21	KAT3_HUMAN	L	379;413	ENSP00000359522:S379L;ENSP00000260508:S413L	ENSP00000260508:S413L	S	-	2	0	CCBL2	89181340	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.423000	0.90264	2.515000	0.84797	0.563000	0.77884	TCA	CCBL2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.313	CCBL2-004	KNOWN	basic|CCDS	protein_coding	CCBL2	HGNC	protein_coding	OTTHUMT00000029300.3	G	NM_001008661		89408752	-1	no_errors	ENST00000260508	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC108	255101	genome.wustl.edu	37	2	219868909	219868909	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:219868909C>G	ENST00000341552.5	-	33	5403	c.5320G>C	c.(5320-5322)Gag>Cag	p.E1774Q	CCDC108_ENST00000453220.1_Missense_Mutation_p.E1774Q|MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1774Q|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1774	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E1774Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tcctccaactcttcttcttcc	0.542																																																	1	Substitution - Missense(1)	cervix(1)											96.0	91.0	93.0					2																	219868909		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5320G>C	2.37:g.219868909C>G	ENSP00000340776:p.Glu1774Gln		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.E1774Q	ENST00000341552.5	37	c.5320	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044896	0.36085	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.07688	3.17;3.17;3.17	4.67	2.75	0.32379	.	0.171581	0.27473	N	0.019216	T	0.07818	0.0196	L	0.43152	1.355	0.19575	N	0.999968	B	0.20261	0.043	B	0.19391	0.025	T	0.27226	-1.0080	10	0.32370	T	0.25	-10.0386	9.4189	0.38539	0.1603:0.6847:0.155:0.0	.	1774	Q6ZU64	CC108_HUMAN	Q	1774	ENSP00000340776:E1774Q;ENSP00000413377:E1774Q;ENSP00000409117:E1774Q	ENSP00000340776:E1774Q	E	-	1	0	CCDC108	219577153	0.114000	0.22134	0.155000	0.22561	0.530000	0.34684	0.806000	0.27126	0.946000	0.37632	0.561000	0.74099	GAG	CCDC108	-	NULL		0.542	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219868909	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.125	G
CCDC125	202243	genome.wustl.edu	37	5	68595899	68595899	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:68595899C>G	ENST00000396496.2	-	8	863	c.756G>C	c.(754-756)aaG>aaC	p.K252N	CCDC125_ENST00000383374.2_Missense_Mutation_p.K251N|CCDC125_ENST00000511257.1_Missense_Mutation_p.K127N|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.K252N			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	252						cytoplasm (GO:0005737)		p.K252N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CCTGAGCCATCTTCTGCTGTT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											281.0	253.0	263.0					5																	68595899		2203	4300	6503	SO:0001583	missense	202243			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.756G>C	5.37:g.68595899C>G	ENSP00000379754:p.Lys252Asn		Q86Z19	Missense_Mutation	SNP	NULL	p.K252N	ENST00000396496.2	37	c.756	CCDS4000.1	5	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200298	0.58126	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374;ENST00000511257	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	4.66	4.66	0.58398	.	0.147785	0.64402	D	0.000013	T	0.58637	0.2136	M	0.70275	2.135	0.35345	D	0.786864	P;D	0.53462	0.943;0.96	P;P	0.50082	0.63;0.59	T	0.71397	-0.4605	10	0.54805	T	0.06	-8.0537	10.3961	0.44201	0.0:0.9069:0.0:0.0931	.	127;252	Q86Z20-2;Q86Z20	.;CC125_HUMAN	N	252;252;251;127	ENSP00000379754:K252N;ENSP00000379756:K252N;ENSP00000372865:K251N;ENSP00000426795:K127N	ENSP00000372865:K251N	K	-	3	2	CCDC125	68631655	0.552000	0.26505	0.996000	0.52242	0.984000	0.73092	0.750000	0.26334	2.320000	0.78422	0.591000	0.81541	AAG	CCDC125	-	NULL		0.443	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	HGNC	protein_coding	OTTHUMT00000254027.4	C	NM_176816		68595899	-1	no_errors	ENST00000396496	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC15	80071	genome.wustl.edu	37	11	124845006	124845006	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:124845006G>A	ENST00000344762.5	+	5	790	c.531G>A	c.(529-531)atG>atA	p.M177I	CCDC15_ENST00000529051.1_Missense_Mutation_p.M177I	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	177						centrosome (GO:0005813)		p.M177I(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GTGAAACTATGAAACAGGCAC	0.418																																																	2	Substitution - Missense(2)	cervix(2)											55.0	49.0	51.0					11																	124845006		1839	4097	5936	SO:0001583	missense	80071			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.531G>A	11.37:g.124845006G>A	ENSP00000341684:p.Met177Ile		Q9H8U7	Missense_Mutation	SNP	NULL	p.M177I	ENST00000344762.5	37	c.531	CCDS44756.1	11	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057325	0.55325	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.35789	1.3;1.29	5.49	5.49	0.81192	.	0.058743	0.64402	D	0.000006	T	0.37892	0.1020	M	0.69823	2.125	0.29286	N	0.869684	P	0.36909	0.573	B	0.32677	0.15	T	0.46498	-0.9187	10	0.42905	T	0.14	-8.3	14.8609	0.70382	0.0:0.0:1.0:0.0	.	177	Q0P6D6	CCD15_HUMAN	I	177	ENSP00000435403:M177I;ENSP00000341684:M177I	ENSP00000341684:M177I	M	+	3	0	CCDC15	124350216	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	4.736000	0.62059	2.572000	0.86782	0.650000	0.86243	ATG	CCDC15	-	NULL		0.418	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC15	HGNC	protein_coding	OTTHUMT00000387131.1	G	NM_025004		124845006	+1	no_errors	ENST00000344762	ensembl	human	known	70_37	missense	SNP	1.000	A
DRC1	92749	genome.wustl.edu	37	2	26667594	26667594	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:26667594C>G	ENST00000288710.2	+	10	1248	c.1174C>G	c.(1174-1176)Ctt>Gtt	p.L392V	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	392					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.L392V(1)									GCATTTTGCTCTTATTGATGA	0.512																																																	1	Substitution - Missense(1)	cervix(1)											71.0	65.0	67.0					2																	26667594		2203	4300	6503	SO:0001583	missense	92749			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1174C>G	2.37:g.26667594C>G	ENSP00000288710:p.Leu392Val		A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	NULL	p.L392V	ENST00000288710.2	37	c.1174	CCDS1723.1	2	.	.	.	.	.	.	.	.	.	.	C	3.106	-0.183689	0.06340	.	.	ENSG00000157856	ENST00000288710	T	0.14022	2.54	5.51	-11.0	0.00169	.	1.678270	0.03000	N	0.148096	T	0.07908	0.0198	L	0.28115	0.83	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.13656	-1.0501	10	0.29301	T	0.29	0.1306	7.9438	0.29974	0.4287:0.1007:0.4101:0.0605	.	392	Q96MC2	CC164_HUMAN	V	392	ENSP00000288710:L392V	ENSP00000288710:L392V	L	+	1	0	CCDC164	26521098	0.000000	0.05858	0.000000	0.03702	0.714000	0.41099	-1.695000	0.01913	-2.093000	0.00856	-0.127000	0.14921	CTT	CCDC164	-	NULL		0.512	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC164	HGNC	protein_coding	OTTHUMT00000246862.1	C	NM_145038		26667594	+1	no_errors	ENST00000288710	ensembl	human	known	70_37	missense	SNP	0.000	G
CCDC150	284992	genome.wustl.edu	37	2	197504478	197504478	+	5'UTR	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:197504478C>G	ENST00000389175.4	+	0	123				CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150											breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTACGGAGCCTCAGGCGGAC	0.647																																																	0													21.0	24.0	23.0					2																	197504478		1956	4133	6089	SO:0001623	5_prime_UTR_variant	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.-13C>G	2.37:g.197504478C>G			Q6P5U6|Q6P663|Q8N8V5	RNA	SNP	-	NULL	ENST00000389175.4	37	NULL	CCDS46478.1	2																																																																																			CCDC150	-	-		0.647	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	C	NM_001080539		197504478	+1	no_errors	ENST00000498512	ensembl	human	known	70_37	rna	SNP	0.000	G
CCDC37	348807	genome.wustl.edu	37	3	126137952	126137952	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:126137952G>A	ENST00000352312.1	+	8	783	c.684G>A	c.(682-684)aaG>aaA	p.K228K	CCDC37_ENST00000393425.1_Silent_p.K229K|CCDC37_ENST00000505024.1_Silent_p.K229K	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	228								p.K228K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGATAGAGAAGATCCTTGAGA	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											45.0	43.0	44.0					3																	126137952		2203	4296	6499	SO:0001819	synonymous_variant	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.684G>A	3.37:g.126137952G>A			D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.K229	ENST00000352312.1	37	c.687	CCDS3037.1	3																																																																																			CCDC37	-	NULL		0.592	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	G	NM_182628		126137952	+1	no_errors	ENST00000393425	ensembl	human	known	70_37	silent	SNP	0.996	A
CCDC77	84318	genome.wustl.edu	37	12	550094	550094	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:550094G>C	ENST00000239830.4	+	12	1431	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	CCDC77_ENST00000540180.1_Missense_Mutation_p.E386Q|CCDC77_ENST00000422000.1_Missense_Mutation_p.E386Q|CCDC77_ENST00000412006.2_Missense_Mutation_p.E386Q	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	418						centrosome (GO:0005813)|membrane (GO:0016020)		p.E418Q(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CCTGGAAGTAGAAGGCTTTAA	0.433																																																	1	Substitution - Missense(1)	cervix(1)											89.0	82.0	84.0					12																	550094		2203	4300	6503	SO:0001583	missense	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1252G>C	12.37:g.550094G>C	ENSP00000239830:p.Glu418Gln		B4DDE8	Missense_Mutation	SNP	NULL	p.E418Q	ENST00000239830.4	37	c.1252	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739935	0.69304	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.44881	0.91;0.91;1.31;0.91;0.91	5.94	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.84585	2.705	0.58432	D	0.999998	P	0.36683	0.565	B	0.33254	0.16	T	0.56986	-0.7888	10	0.48119	T	0.1	-18.2775	16.9863	0.86340	0.0:0.1276:0.8724:0.0	.	418	Q9BR77	CCD77_HUMAN	Q	386;386;386;418;386	ENSP00000440554:E386Q;ENSP00000391870:E386Q;ENSP00000445873:E386Q;ENSP00000239830:E418Q;ENSP00000412925:E386Q	ENSP00000239830:E418Q	E	+	1	0	CCDC77	420355	1.000000	0.71417	0.992000	0.48379	0.882000	0.50991	7.727000	0.84838	1.479000	0.48272	0.563000	0.77884	GAA	CCDC77	-	NULL		0.433	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	G	NM_032358		550094	+1	no_errors	ENST00000239830	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC88C	440193	genome.wustl.edu	37	14	91850871	91850871	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:91850871C>G	ENST00000389857.6	-	3	357				CCDC88C_ENST00000554165.1_5'UTR|CCDC88C_ENST00000553403.1_Intron|CCDC88C_ENST00000389856.5_Intron	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C						protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				tcttcaccttcttcATCATAA	0.418																																																	0																																										SO:0001627	intron_variant	440193				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.270+24131G>C	14.37:g.91850871C>G			Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	RNA	SNP	-	NULL	ENST00000389857.6	37	NULL	CCDS45151.1	14																																																																																			CCDC88C	-	-		0.418	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	C	XM_029353		91850871	-1	no_errors	ENST00000554165	ensembl	human	putative	70_37	rna	SNP	0.998	G
MCUR1	63933	genome.wustl.edu	37	6	13807193	13807193	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:13807193C>T	ENST00000379170.4	-	2	637	c.499G>A	c.(499-501)Gac>Aac	p.D167N	MCUR1_ENST00000359495.2_Missense_Mutation_p.D167N	NM_001031713.3	NP_001026883.1	Q96AQ8	MCUR1_HUMAN	mitochondrial calcium uniporter regulator 1	167					calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	integral component of mitochondrial inner membrane (GO:0031305)		p.D167N(1)									GCATGAGTGTCGAAGTAGAGT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											180.0	153.0	162.0					6																	13807193		2203	4300	6503	SO:0001583	missense	63933			BC016850	CCDS35495.1	6p23	2013-03-13	2013-03-13	2013-03-13	ENSG00000050393	ENSG00000050393			21097	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 79"", ""coiled-coil domain containing 90A"""	C6orf79, CCDC90A		23178883	Standard	NM_001031713		Approved	FLJ20958	uc003nbc.2	Q96AQ8	OTTHUMG00000014279	ENST00000379170.4:c.499G>A	6.37:g.13807193C>T	ENSP00000368468:p.Asp167Asn		Q96JS7|Q9H7F8	Missense_Mutation	SNP	pfam_DUF1640	p.D167N	ENST00000379170.4	37	c.499	CCDS35495.1	6	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704852	0.88924	.	.	ENSG00000050393	ENST00000379170;ENST00000359495	T;T	0.62788	-0.0;1.06	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.79958	0.4536	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83249	-0.0054	10	0.56958	D	0.05	-21.614	15.9613	0.79933	0.0:1.0:0.0:0.0	.	167	Q96AQ8	CC90A_HUMAN	N	167	ENSP00000368468:D167N;ENSP00000352475:D167N	ENSP00000352475:D167N	D	-	1	0	CCDC90A	13915172	1.000000	0.71417	0.999000	0.59377	0.545000	0.35147	5.844000	0.69430	2.483000	0.83821	0.563000	0.77884	GAC	CCDC90A	-	pfam_DUF1640		0.443	MCUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC90A	HGNC	protein_coding	OTTHUMT00000039909.3	C	NM_022102		13807193	-1	no_errors	ENST00000379170	ensembl	human	known	70_37	missense	SNP	1.000	T
CCNB3	85417	genome.wustl.edu	37	X	50028215	50028215	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:50028215C>G	ENST00000376042.1	+	3	350	c.52C>G	c.(52-54)Cag>Gag	p.Q18E	CCNB3_ENST00000376038.1_Missense_Mutation_p.Q18E|CCNB3_ENST00000493507.1_3'UTR|CCNB3_ENST00000348603.2_Missense_Mutation_p.Q18E|CCNB3_ENST00000276014.7_Missense_Mutation_p.Q18E			Q8WWL7	CCNB3_HUMAN	cyclin B3	18					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAAGAAATCTCAGTCCAGCAA	0.478																																																	0													133.0	106.0	115.0					X																	50028215		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.52C>G	X.37:g.50028215C>G	ENSP00000365210:p.Gln18Glu		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.Q18E	ENST00000376042.1	37	c.52	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663868	0.29515	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000396540;ENST00000276014	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	4.33	2.49	0.30216	.	.	.	.	.	T	0.08537	0.0212	L	0.38175	1.15	0.09310	N	1	P;P	0.46987	0.525;0.888	B;B	0.42163	0.164;0.378	T	0.24657	-1.0154	8	.	.	.	.	4.1674	0.10313	0.2582:0.6168:0.0:0.125	.	18;18	Q8WWL7-2;Q8WWL7	.;CCNB3_HUMAN	E	18	ENSP00000365210:Q18E;ENSP00000365206:Q18E;ENSP00000338682:Q18E;ENSP00000276014:Q18E	.	Q	+	1	0	CCNB3	50044955	0.002000	0.14202	0.002000	0.10522	0.147000	0.21601	0.491000	0.22419	0.524000	0.28502	-0.273000	0.10243	CAG	CCNB3	-	NULL		0.478	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	C			50028215	+1	no_errors	ENST00000276014	ensembl	human	known	70_37	missense	SNP	0.001	G
CCNB3	85417	genome.wustl.edu	37	X	50052681	50052681	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:50052681G>C	ENST00000376042.1	+	6	1810	c.1512G>C	c.(1510-1512)ttG>ttC	p.L504F	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.L504F			Q8WWL7	CCNB3_HUMAN	cyclin B3	504					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.L504F(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGTCCCACTTGAAGAAACCAC	0.413																																																	2	Substitution - Missense(2)	cervix(2)											44.0	42.0	43.0					X																	50052681		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1512G>C	X.37:g.50052681G>C	ENSP00000365210:p.Leu504Phe		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.L504F	ENST00000376042.1	37	c.1512	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	G	8.329	0.825990	0.16749	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.28069	1.63;1.63	3.38	2.48	0.30137	.	9.429270	0.00166	N	0.000000	T	0.48519	0.1504	M	0.66939	2.045	0.09310	N	1	D	0.62365	0.991	P	0.55667	0.781	T	0.09487	-1.0672	9	.	.	.	.	6.9929	0.24765	0.0:0.0:0.7288:0.2712	.	504	Q8WWL7	CCNB3_HUMAN	F	504	ENSP00000365210:L504F;ENSP00000276014:L504F	.	L	+	3	2	CCNB3	50069421	0.003000	0.15002	0.009000	0.14445	0.034000	0.12701	0.056000	0.14256	0.778000	0.33520	0.509000	0.49947	TTG	CCNB3	-	NULL		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	G			50052681	+1	no_errors	ENST00000276014	ensembl	human	known	70_37	missense	SNP	0.009	C
CCNL1	57018	genome.wustl.edu	37	3	156870834	156870834	+	Silent	SNP	A	A	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:156870834A>G	ENST00000295926.3	-	4	718	c.600T>C	c.(598-600)caT>caC	p.H200H	CCNL1_ENST00000479052.1_5'UTR|CCNL1_ENST00000461804.1_Silent_p.H200H|Y_RNA_ENST00000364908.1_RNA	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	200					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.H200H(1)		NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CCTTATGAGGATGCTTGACAT	0.348																																																	1	Substitution - coding silent(1)	cervix(1)											139.0	125.0	130.0					3																	156870834		2203	4300	6503	SO:0001819	synonymous_variant	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.600T>C	3.37:g.156870834A>G			B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.H200	ENST00000295926.3	37	c.600	CCDS3178.1	3																																																																																			CCNL1	-	superfamily_Cyclin-like,pirsf_Cyclin_L		0.348	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	HGNC	protein_coding	OTTHUMT00000351859.1	A	NM_020307		156870834	-1	no_errors	ENST00000295926	ensembl	human	known	70_37	silent	SNP	0.999	G
CCNL1	57018	genome.wustl.edu	37	3	156877263	156877263	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:156877263C>G	ENST00000295926.3	-	2	427	c.309G>C	c.(307-309)gcG>gcC	p.A103A	CCNL1_ENST00000295925.4_Silent_p.A103A|CCNL1_ENST00000461804.1_Silent_p.A103A	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	103	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.A103A(1)		NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CCGTTGCCATCGCCACCTGCA	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											51.0	52.0	52.0					3																	156877263		2203	4300	6503	SO:0001819	synonymous_variant	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.309G>C	3.37:g.156877263C>G			B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.A103	ENST00000295926.3	37	c.309	CCDS3178.1	3																																																																																			CCNL1	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L		0.582	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	HGNC	protein_coding	OTTHUMT00000351859.1	C	NM_020307		156877263	-1	no_errors	ENST00000295926	ensembl	human	known	70_37	silent	SNP	0.999	G
CCPG1	9236	genome.wustl.edu	37	15	55664134	55664134	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:55664134G>A	ENST00000310958.6	-	6	861	c.563C>T	c.(562-564)tCa>tTa	p.S188L	MIR628_ENST00000385229.1_RNA|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.S188L|CCPG1_ENST00000425574.3_Missense_Mutation_p.S188L|CCPG1_ENST00000442196.3_Missense_Mutation_p.S188L	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	188	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.S188L(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCAGATTCTGAAGCAGAAAC	0.448																																																	1	Substitution - Missense(1)	cervix(1)											92.0	86.0	88.0					15																	55664134		1865	4101	5966	SO:0001583	missense	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.563C>T	15.37:g.55664134G>A	ENSP00000311656:p.Ser188Leu		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.S188L	ENST00000310958.6	37	c.563	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196600	0.79015	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.35421	3.65;3.65;1.31	5.74	3.88	0.44766	.	0.334930	0.32548	N	0.005941	T	0.53626	0.1808	M	0.75447	2.3	0.37177	D	0.903318	D;D;D;D	0.76494	0.999;0.995;0.999;0.986	D;D;D;P	0.69479	0.952;0.934;0.964;0.88	T	0.59710	-0.7403	10	0.59425	D	0.04	.	6.8655	0.24091	0.1514:0.1445:0.7042:0.0	.	188;188;188;44	A8K9T0;Q9ULG6-3;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	L	188	ENSP00000311656:S188L;ENSP00000403400:S188L;ENSP00000415128:S188L	ENSP00000311656:S188L	S	-	2	0	DYX1C1	53451426	0.998000	0.40836	0.881000	0.34555	0.974000	0.67602	3.200000	0.51051	0.786000	0.33708	0.655000	0.94253	TCA	CCPG1	-	NULL		0.448	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	G	NM_004748		55664134	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	missense	SNP	0.912	A
CCT2	10576	genome.wustl.edu	37	12	69987309	69987309	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:69987309C>T	ENST00000299300.6	+	10	1086	c.898C>T	c.(898-900)Cct>Tct	p.P300S	CCT2_ENST00000543146.2_Missense_Mutation_p.P253S|CCT2_ENST00000544368.2_Missense_Mutation_p.P300S	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	300					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.P300S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTATAATTATCCTGAACAGCT	0.353																																																	1	Substitution - Missense(1)	cervix(1)											100.0	95.0	97.0					12																	69987309		2203	4300	6503	SO:0001583	missense	10576			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.898C>T	12.37:g.69987309C>T	ENSP00000299300:p.Pro300Ser		A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.P300S	ENST00000299300.6	37	c.898	CCDS8991.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.367833	0.95900	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.76968	-1.06;-1.06;-1.06	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86875	0.6038	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84616	0.0681	9	.	.	.	-5.1868	20.2985	0.98592	0.0:1.0:0.0:0.0	.	300;300	F5GWF6;P78371	.;TCPB_HUMAN	S	300;300;253	ENSP00000299300:P300S;ENSP00000441847:P300S;ENSP00000445471:P253S	.	P	+	1	0	CCT2	68273576	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.435000	0.80391	2.793000	0.96121	0.655000	0.94253	CCT	CCT2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta		0.353	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	HGNC	protein_coding	OTTHUMT00000403818.1	C	NM_006431		69987309	+1	no_errors	ENST00000299300	ensembl	human	known	70_37	missense	SNP	1.000	T
CCT6B	10693	genome.wustl.edu	37	17	33266229	33266229	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:33266229G>A	ENST00000314144.5	-	10	1301	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	CCT6B_ENST00000436961.3_Missense_Mutation_p.R351C|CCT6B_ENST00000421975.3_Missense_Mutation_p.R359C	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	396					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)	p.R396C(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTGATAGCACGAAGTCCATCT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											260.0	223.0	236.0					17																	33266229		2203	4300	6503	SO:0001583	missense	10693			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1186C>T	17.37:g.33266229G>A	ENSP00000327191:p.Arg396Cys		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.R396C	ENST00000314144.5	37	c.1186	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787925	0.49997	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.79352	-1.26;-1.26;-1.26	4.47	2.43	0.29744	.	0.196490	0.53938	D	0.000044	T	0.76666	0.4019	M	0.62154	1.92	0.58432	D	0.999999	B;P;D	0.52996	0.314;0.734;0.957	B;P;P	0.48982	0.435;0.467;0.597	T	0.75827	-0.3180	10	0.87932	D	0	-0.1435	7.6551	0.28371	0.0948:0.1673:0.7379:0.0	.	351;359;396	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	C	359;396;351	ENSP00000398044:R359C;ENSP00000327191:R396C;ENSP00000400917:R351C	ENSP00000327191:R396C	R	-	1	0	CCT6B	30290342	1.000000	0.71417	0.984000	0.44739	0.788000	0.44548	4.602000	0.61098	0.601000	0.29879	0.557000	0.71058	CGT	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta		0.363	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	G	NM_006584		33266229	-1	no_errors	ENST00000314144	ensembl	human	known	70_37	missense	SNP	0.998	A
CCT7	10574	genome.wustl.edu	37	2	73479988	73479988	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:73479988G>A	ENST00000258091.5	+	12	1772	c.1631G>A	c.(1630-1632)tGa>tAa	p.*544*	CCT7_ENST00000537131.1_Silent_p.*444*|CCT7_ENST00000538797.1_Silent_p.*416*|CCT7_ENST00000539919.1_Silent_p.*500*|CCT7_ENST00000398422.2_Silent_p.*340*|CCT7_ENST00000540468.1_Silent_p.*457*	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	0					'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)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.*340*(1)|p.*544*(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CGCCCCCACTGAGAGGCACCC	0.597																																																	2	Substitution - coding silent(2)	cervix(2)											16.0	18.0	17.0					2																	73479988		1963	4135	6098	SO:0001819	synonymous_variant	10574			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.1631G>A	2.37:g.73479988G>A			A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.*544	ENST00000258091.5	37	c.1631	CCDS46336.1	2																																																																																			CCT7	-	NULL		0.597	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	G			73479988	+1	no_errors	ENST00000258091	ensembl	human	known	70_37	silent	SNP	1.000	A
CD160	11126	genome.wustl.edu	37	1	145698917	145698917	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:145698917C>T	ENST00000369288.2	-	5	756				CD160_ENST00000401557.3_Intron|CD160_ENST00000369290.1_Missense_Mutation_p.E83K|CD160_ENST00000235933.6_Intron	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATAGCACCCTCATTGCTTGGG	0.493																																					Colon(182;1122 1999 4065 44014 53024)												0													60.0	54.0	56.0					1																	145698917		2203	4300	6503	SO:0001627	intron_variant	11126			AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"""CD molecules"""	17013	protein-coding gene	gene with protein product		604463	"""CD160 antigen"""			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.538+35G>A	1.37:g.145698917C>T				Missense_Mutation	SNP	NULL	p.E83K	ENST00000369288.2	37	c.247	CCDS923.1	1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910228	0.33721	.	.	ENSG00000117281	ENST00000369290	.	.	.	4.07	-1.4	0.08968	.	.	.	.	.	T	0.07593	0.0191	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.36212	-0.9757	6	.	.	.	.	4.3692	0.11239	0.0:0.3897:0.1763:0.4339	.	83	Q5T2V6	.	K	83	.	.	E	-	1	0	CD160	144410274	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.051000	0.11885	-0.252000	0.09528	-0.137000	0.14449	GAG	CD160	-	NULL		0.493	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CD160	HGNC	protein_coding	OTTHUMT00000038532.2	C	NM_007053		145698917	-1	no_errors	ENST00000369290	ensembl	human	known	70_37	missense	SNP	0.000	T
CD163	9332	genome.wustl.edu	37	12	7633798	7633798	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:7633798G>A	ENST00000359156.4	-	15	3504	c.3302C>T	c.(3301-3303)tCt>tTt	p.S1101F	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.S1089F|CD163_ENST00000396620.3_Missense_Mutation_p.S1134F|CD163_ENST00000432237.2_Missense_Mutation_p.S1101F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1101					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S1101Y(1)|p.S1101F(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ATTCAGGCAAGAATTCATCTC	0.453																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											136.0	130.0	132.0					12																	7633798		2203	4300	6503	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3302C>T	12.37:g.7633798G>A	ENSP00000352071:p.Ser1101Phe		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.S1101F	ENST00000359156.4	37	c.3302	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337223	0.60963	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01279	5.06;5.07;5.06;5.07	4.75	3.86	0.44501	.	0.386104	0.19606	N	0.110269	T	0.02848	0.0085	L	0.29908	0.895	0.34242	D	0.677753	D;B;D	0.71674	0.998;0.012;0.998	P;B;P	0.61940	0.896;0.008;0.896	T	0.48502	-0.9030	10	0.54805	T	0.06	.	6.5365	0.22357	0.1903:0.0:0.8097:0.0	.	1134;1101;1101	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	1101;1089;1134;1101	ENSP00000352071:S1101F;ENSP00000444071:S1089F;ENSP00000379863:S1134F;ENSP00000403885:S1101F	ENSP00000352071:S1101F	S	-	2	0	CD163	7525065	0.973000	0.33851	0.985000	0.45067	0.950000	0.60333	1.844000	0.39269	2.634000	0.89283	0.455000	0.32223	TCT	CD163	-	NULL		0.453	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	G	NM_004244, NM_203416		7633798	-1	no_errors	ENST00000359156	ensembl	human	known	70_37	missense	SNP	0.984	A
CD200R1	131450	genome.wustl.edu	37	3	112642643	112642643	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:112642643C>T	ENST00000471858.1	-	7	1091	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	CD200R1_ENST00000308611.3_Missense_Mutation_p.E310K|CD200R1_ENST00000295863.4_Silent_p.*213*	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	287					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.E310K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GGCTGCATTTCATCCTAAGAA	0.358																																																	1	Substitution - Missense(1)	cervix(1)											110.0	104.0	106.0					3																	112642643		2203	4300	6503	SO:0001583	missense	131450			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.859G>A	3.37:g.112642643C>T	ENSP00000418928:p.Glu287Lys		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.E310K	ENST00000471858.1	37	c.928	CCDS2970.1	3	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656264	0.47467	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.19250	2.16;2.16	5.42	4.5	0.54988	.	0.000000	0.40385	U	0.001106	T	0.17238	0.0414	L	0.34521	1.04	0.80722	D	1	P;P	0.46912	0.612;0.886	B;B	0.42245	0.133;0.381	T	0.01748	-1.1282	10	0.87932	D	0	.	9.2496	0.37547	0.0:0.8925:0.0:0.1075	.	287;310	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	K	287;310	ENSP00000418928:E287K;ENSP00000311035:E310K	ENSP00000311035:E310K	E	-	1	0	CD200R1	114125333	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	3.724000	0.54962	1.187000	0.43000	-0.355000	0.07637	GAA	CD200R1	-	NULL		0.358	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200R1	HGNC	protein_coding	OTTHUMT00000354467.1	C	NM_138806		112642643	-1	no_errors	ENST00000308611	ensembl	human	known	70_37	missense	SNP	1.000	T
CD226	10666	genome.wustl.edu	37	18	67614259	67614259	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:67614259C>G	ENST00000280200.4	-	3	361	c.93G>C	c.(91-93)gaG>gaC	p.E31D	CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.E31D|CD226_ENST00000577287.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	31	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.E31D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GAGACATGTTCTCGGCAAAGG	0.433																																					NSCLC(184;838 2130 8673 21498 50749)												1	Substitution - Missense(1)	cervix(1)											107.0	92.0	97.0					18																	67614259		2203	4300	6503	SO:0001583	missense	10666			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.93G>C	18.37:g.67614259C>G	ENSP00000280200:p.Glu31Asp		B2R818	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E31D	ENST00000280200.4	37	c.93	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440764	0.43326	.	.	ENSG00000150637	ENST00000280200	T	0.02863	4.13	5.51	3.74	0.42951	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.340831	0.33346	N	0.005015	T	0.06325	0.0163	L	0.48642	1.525	0.35148	D	0.769506	P	0.50819	0.939	P	0.53809	0.735	T	0.29882	-0.9997	10	0.56958	D	0.05	.	8.7285	0.34485	0.0:0.8251:0.0:0.1749	.	31	Q15762	CD226_HUMAN	D	31	ENSP00000280200:E31D	ENSP00000280200:E31D	E	-	3	2	CD226	65765239	0.972000	0.33761	0.772000	0.31596	0.038000	0.13279	0.569000	0.23638	0.817000	0.34445	0.655000	0.94253	GAG	CD226	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.433	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	HGNC	protein_coding	OTTHUMT00000256226.3	C	NM_006566		67614259	-1	no_errors	ENST00000280200	ensembl	human	known	70_37	missense	SNP	0.985	G
CD320	51293	genome.wustl.edu	37	19	8373047	8373047	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:8373047G>A	ENST00000301458.5	-	1	192	c.128C>T	c.(127-129)tCt>tTt	p.S43F	CD320_ENST00000537716.2_Missense_Mutation_p.S43F|CD320_ENST00000596246.1_5'UTR	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	43					cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.S43F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GGCCTGGGCAGAGGTCGGGGT	0.751																																																	1	Substitution - Missense(1)	cervix(1)											4.0	6.0	5.0					19																	8373047		1955	3942	5897	SO:0001583	missense	51293			AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"""CD molecules"""	16692	protein-coding gene	gene with protein product	"""8D6 antigen"""	606475	"""CD320 antigen"""			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.128C>T	19.37:g.8373047G>A	ENSP00000301458:p.Ser43Phe		B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.S43F	ENST00000301458.5	37	c.128	CCDS12198.1	19	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031503	0.35797	.	.	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.96685	-3.14;-4.09	4.31	-8.62	0.00881	.	2.116220	0.02709	N	0.112679	D	0.90188	0.6933	N	0.19112	0.55	0.09310	N	1	B;B	0.24823	0.112;0.035	B;B	0.14023	0.01;0.004	T	0.83025	-0.0165	10	0.54805	T	0.06	3.6966	8.3784	0.32457	0.5444:0.3134:0.1421:0.0	.	43;43	F5H6D3;Q9NPF0	.;CD320_HUMAN	F	43	ENSP00000301458:S43F;ENSP00000437697:S43F	ENSP00000301458:S43F	S	-	2	0	CD320	8279047	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-2.024000	0.01436	-2.135000	0.00811	0.462000	0.41574	TCT	CD320	-	NULL		0.751	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD320	HGNC	protein_coding	OTTHUMT00000461366.1	G	NM_016579		8373047	-1	no_errors	ENST00000301458	ensembl	human	known	70_37	missense	SNP	0.000	A
CD99	4267	genome.wustl.edu	37	X	2637439	2637440	+	Intron	INS	-	-	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:2637439_2637440insC	ENST00000381192.3	+	4	330				CD99_ENST00000381187.3_Intron|CD99_ENST00000482405.2_Intron|CD99_ENST00000381184.1_Intron	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						tctctctctctccccactgcct	0.391													|||unknown(NO_COVERAGE)	2844	0.567891	0.5212	0.6715	5008	,	,		19003	0.4722		0.7515	False		,,,				2504	0.4673																0																																										SO:0001627	intron_variant	4267			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.149-262->C	X.37:g.2637443_2637443dupC			A6NIW1|O00518|Q6ICV7	RNA	INS	-	NULL	ENST00000381192.3	37	NULL	CCDS14119.1	X																																																																																			CD99	-	-		0.391	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD99	HGNC	protein_coding	OTTHUMT00000055624.1	-	NM_001122898		2637440	+1	no_errors	ENST00000497752	ensembl	human	known	70_37	rna	INS	0.004:0.004	C
CDC42BPG	55561	genome.wustl.edu	37	11	64609203	64609203	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:64609203G>A	ENST00000342711.5	-	3	254	c.255C>T	c.(253-255)gtC>gtT	p.V85V		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.V85V(1)		central_nervous_system(1)|lung(3)	4						TCACCACGGTGACCTAAGGCC	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											118.0	118.0	118.0					11																	64609203		2201	4297	6498	SO:0001819	synonymous_variant	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.255C>T	11.37:g.64609203G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.V85	ENST00000342711.5	37	c.255	CCDS31601.1	11																																																																																			CDC42BPG	-	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		0.622	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64609203	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	silent	SNP	0.164	A
CDC73	79577	genome.wustl.edu	37	1	193121523	193121523	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:193121523C>G	ENST00000367435.3	+	10	1105	c.921C>G	c.(919-921)ttC>ttG	p.F307L		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	307	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.F307L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CGGAAGGCTTCAAAATTGACA	0.328																																																	1	Substitution - Missense(1)	cervix(1)											128.0	114.0	119.0					1																	193121523		2203	4300	6503	SO:0001583	missense	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.921C>G	1.37:g.193121523C>G	ENSP00000356405:p.Phe307Leu		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.F307L	ENST00000367435.3	37	c.921	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023690	0.75390	.	.	ENSG00000134371	ENST00000367435	T	0.61627	0.09	5.27	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69304	-0.5180	10	0.14252	T	0.57	-10.7415	6.8938	0.24245	0.0:0.7528:0.0:0.2472	.	307	Q6P1J9	CDC73_HUMAN	L	307	ENSP00000356405:F307L	ENSP00000356405:F307L	F	+	3	2	CDC73	191388146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.315000	0.33608	1.044000	0.40200	0.585000	0.79938	TTC	CDC73	-	pfam_RNA_pol_access_fac_Cdc73		0.328	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2	C	NM_024529		193121523	+1	no_errors	ENST00000367435	ensembl	human	known	70_37	missense	SNP	1.000	G
CDCP1	64866	genome.wustl.edu	37	3	45152247	45152247	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:45152247C>T	ENST00000296129.1	-	4	876	c.742G>A	c.(742-744)Gag>Aag	p.E248K	CDCP1_ENST00000425231.2_Missense_Mutation_p.E248K|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	248						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E248K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTCATGAGCTCATCCTCAGGG	0.562																																																	1	Substitution - Missense(1)	cervix(1)											153.0	145.0	148.0					3																	45152247		2203	4300	6503	SO:0001583	missense	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.742G>A	3.37:g.45152247C>T	ENSP00000296129:p.Glu248Lys		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	superfamily_CUB	p.E248K	ENST00000296129.1	37	c.742	CCDS2727.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.361457	0.95877	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.33865	1.39;1.39	5.87	5.87	0.94306	CUB (1);	0.308184	0.39475	N	0.001353	T	0.60907	0.2305	M	0.67953	2.075	0.47094	D	0.999313	D;D	0.69078	0.997;0.997	D;D	0.68353	0.957;0.957	T	0.58393	-0.7644	10	0.59425	D	0.04	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	248;248	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	K	248	ENSP00000296129:E248K;ENSP00000399342:E248K	ENSP00000296129:E248K	E	-	1	0	CDCP1	45127251	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.634000	0.67833	2.941000	0.99782	0.655000	0.94253	GAG	CDCP1	-	superfamily_CUB		0.562	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	C	NM_022842		45152247	-1	no_errors	ENST00000296129	ensembl	human	known	70_37	missense	SNP	1.000	T
CDH2	1000	genome.wustl.edu	37	18	25583081	25583081	+	Silent	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:25583081G>T	ENST00000269141.3	-	7	1323	c.900C>A	c.(898-900)ctC>ctA	p.L300L	CDH2_ENST00000399380.3_Silent_p.L269L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	300	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.L300L(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACATCCCATTGAGGGCATTGG	0.463																																																	1	Substitution - coding silent(1)	cervix(1)											219.0	158.0	179.0					18																	25583081		2203	4300	6503	SO:0001819	synonymous_variant	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.900C>A	18.37:g.25583081G>T			A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.L300	ENST00000269141.3	37	c.900	CCDS11891.1	18																																																																																			CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.463	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	G	NM_001792		25583081	-1	no_errors	ENST00000269141	ensembl	human	known	70_37	silent	SNP	0.014	T
CDHR3	222256	genome.wustl.edu	37	7	105621546	105621546	+	Missense_Mutation	SNP	G	G	A	rs545341223		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:105621546G>A	ENST00000317716.9	+	3	462	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.E128K|CDHR3_ENST00000478080.1_Missense_Mutation_p.E40K|CDHR3_ENST00000541203.1_Missense_Mutation_p.E128K|CDHR3_ENST00000343407.5_5'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	128	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)	p.E128K(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGATGTGAACGAGCCACCTCA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20455	0.0		0.0	False		,,,				2504	0.001																2	Substitution - Missense(2)	cervix(2)											73.0	68.0	70.0					7																	105621546		2018	4188	6206	SO:0001583	missense	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.382G>A	7.37:g.105621546G>A	ENSP00000325954:p.Glu128Lys		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E128K	ENST00000317716.9	37	c.382	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725120	0.89298	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080;ENST00000541203	T;T;T;T	0.59502	0.4;0.4;0.26;0.28	5.02	5.02	0.67125	Cadherin (2);	0.000000	0.64402	D	0.000001	T	0.76456	0.3990	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.78879	-0.2030	10	0.87932	D	0	-30.507	17.6187	0.88075	0.0:0.0:1.0:0.0	.	115;128	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	K	128;128;40;128	ENSP00000439766:E128K;ENSP00000325954:E128K;ENSP00000417771:E40K;ENSP00000443733:E128K	ENSP00000325954:E128K	E	+	1	0	CDHR3	105408782	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	6.360000	0.73064	2.774000	0.95407	0.561000	0.74099	GAG	CDHR3	-	smart_Cadherin,pfscan_Cadherin		0.512	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	G	NM_152750		105621546	+1	no_errors	ENST00000317716	ensembl	human	known	70_37	missense	SNP	1.000	A
CDHR3	222256	genome.wustl.edu	37	7	105635288	105635288	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:105635288G>C	ENST00000317716.9	+	5	685	c.605G>C	c.(604-606)aGa>aCa	p.R202T	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.R202T|CDHR3_ENST00000478080.1_Missense_Mutation_p.R114T|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000343407.5_5'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	202	Cadherin 2. {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)	p.R202T(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GCAGGACACAGAAGGTAGTCT	0.463																																																	2	Substitution - Missense(2)	cervix(2)											70.0	62.0	64.0					7																	105635288		1921	4143	6064	SO:0001583	missense	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.605G>C	7.37:g.105635288G>C	ENSP00000325954:p.Arg202Thr		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R202T	ENST00000317716.9	37	c.605	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	9.228	1.035076	0.19590	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.60920	0.15;0.15;0.15	5.05	-7.89	0.01174	Cadherin (4);Cadherin-like (1);	1.746550	0.02212	N	0.063317	T	0.40956	0.1138	L	0.41492	1.28	0.46167	D	0.998904	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.09930	-1.0652	10	0.25106	T	0.35	-0.1496	4.5304	0.12002	0.5961:0.1982:0.1063:0.0994	.	189;202	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	T	202;202;114	ENSP00000439766:R202T;ENSP00000325954:R202T;ENSP00000417771:R114T	ENSP00000325954:R202T	R	+	2	0	CDHR3	105422524	0.002000	0.14202	0.041000	0.18516	0.825000	0.46686	-0.577000	0.05847	-1.352000	0.02194	0.655000	0.94253	AGA	CDHR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.463	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	G	NM_152750		105635288	+1	no_errors	ENST00000317716	ensembl	human	known	70_37	missense	SNP	0.002	C
CDK13	8621	genome.wustl.edu	37	7	40134371	40134371	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:40134371C>T	ENST00000181839.4	+	14	4936	c.4331C>T	c.(4330-4332)tCc>tTc	p.S1444F	CDK13_ENST00000340829.5_Missense_Mutation_p.S1384F	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1444					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.S1444F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGTGACCCTTCCACGGGGCCA	0.483																																																	1	Substitution - Missense(1)	cervix(1)											113.0	97.0	102.0					7																	40134371		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4331C>T	7.37:g.40134371C>T	ENSP00000181839:p.Ser1444Phe		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.S1444F	ENST00000181839.4	37	c.4331	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050400	0.55218	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.49139	0.79;0.79	5.13	5.13	0.70059	.	.	.	.	.	T	0.46151	0.1378	N	0.14661	0.345	0.43637	D	0.996038	D;B	0.60160	0.987;0.38	P;B	0.55303	0.773;0.191	T	0.40794	-0.9544	8	.	.	.	-0.0091	18.6541	0.91441	0.0:1.0:0.0:0.0	.	1384;1444	Q14004-2;Q14004	.;CDK13_HUMAN	F	1444;1384	ENSP00000181839:S1444F;ENSP00000340557:S1384F	.	S	+	2	0	CDK13	40100896	0.811000	0.29063	0.997000	0.53966	0.965000	0.64279	3.788000	0.55446	2.409000	0.81822	0.650000	0.86243	TCC	CDK13	-	NULL		0.483	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	C	NM_003718		40134371	+1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	0.987	T
CDK14	5218	genome.wustl.edu	37	7	90419921	90419921	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:90419921C>T	ENST00000380050.3	+	5	629	c.498C>T	c.(496-498)atC>atT	p.I166I	CDK14_ENST00000406263.1_Silent_p.I120I|CDK14_ENST00000436577.2_Silent_p.I37I|CDK14_ENST00000265741.3_Silent_p.I148I			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.I148I(1)|p.I166I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TGAAGGTGATCAGGCTGCAGG	0.413																																					GBM(83;1228 1256 8311 16577 31299)												2	Substitution - coding silent(2)	cervix(2)											158.0	154.0	155.0					7																	90419921		2203	4300	6503	SO:0001819	synonymous_variant	5218				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.498C>T	7.37:g.90419921C>T			A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Nonsense_Mutation	SNP	NULL	p.Q89*	ENST00000380050.3	37	c.265		7																																																																																			CDK14	-	NULL		0.413	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5	C	NM_012395		90419921	+1	no_errors	ENST00000431029	ensembl	human	known	70_37	nonsense	SNP	0.984	T
CDHR3	222256	genome.wustl.edu	37	7	105662778	105662778	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:105662778G>A	ENST00000317716.9	+	14	2040	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.D654N|CDHR3_ENST00000478080.1_Missense_Mutation_p.D566N	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	654	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)	p.D654N(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTACGTAACTGATGACAACTT	0.463																																																	2	Substitution - Missense(2)	cervix(2)											205.0	191.0	195.0					7																	105662778		2002	4191	6193	SO:0001583	missense	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1960G>A	7.37:g.105662778G>A	ENSP00000325954:p.Asp654Asn		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D654N	ENST00000317716.9	37	c.1960	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544098	0.86022	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.70164	-0.46;-0.46;0.45	5.39	5.39	0.77823	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84713	0.0735	10	0.87932	D	0	-30.8469	19.52	0.95182	0.0:0.0:1.0:0.0	.	641;654	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	N	654;654;566	ENSP00000439766:D654N;ENSP00000325954:D654N;ENSP00000417771:D566N	ENSP00000325954:D654N	D	+	1	0	CDHR3	105450014	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.103000	0.77014	2.695000	0.91970	0.655000	0.94253	GAT	CDHR3	-	superfamily_Cadherin-like,pfscan_Cadherin		0.463	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	G	NM_152750		105662778	+1	no_errors	ENST00000317716	ensembl	human	known	70_37	missense	SNP	1.000	A
CDK5RAP3	80279	genome.wustl.edu	37	17	46052532	46052532	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:46052532C>G	ENST00000338399.4	+	6	448	c.342C>G	c.(340-342)ctC>ctG	p.L114L	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Silent_p.L139L	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	114					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.L114L(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CAGTGGAACTCTCTAGCCTCC	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											96.0	92.0	93.0					17																	46052532		2007	4183	6190	SO:0001819	synonymous_variant	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.342C>G	17.37:g.46052532C>G			B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	pfam_DUF773	p.L114	ENST00000338399.4	37	c.342	CCDS42356.1	17																																																																																			CDK5RAP3	-	pfam_DUF773		0.552	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1	C	NM_176096		46052532	+1	no_errors	ENST00000338399	ensembl	human	known	70_37	silent	SNP	1.000	G
CDK5RAP3	80279	genome.wustl.edu	37	17	46052645	46052645	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:46052645C>A	ENST00000338399.4	+	6	561	c.455C>A	c.(454-456)gCa>gAa	p.A152E	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.A177E	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	152					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.A152E(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GAGTGCCAGGCAGGGGCTGCC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											52.0	58.0	56.0					17																	46052645		2049	4188	6237	SO:0001583	missense	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.455C>A	17.37:g.46052645C>A	ENSP00000344683:p.Ala152Glu		B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	pfam_DUF773	p.A152E	ENST00000338399.4	37	c.455	CCDS42356.1	17	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438344	0.25900	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.41065	1.01;1.01	5.47	3.25	0.37280	.	0.454912	0.25022	N	0.033746	T	0.22742	0.0549	N	0.22421	0.69	0.33605	D	0.602823	B;B	0.32467	0.027;0.372	B;B	0.36719	0.012;0.231	T	0.16689	-1.0394	10	0.14252	T	0.57	-9.988	1.2437	0.01968	0.2302:0.3963:0.2241:0.1495	.	65;152	Q96JB5-2;Q96JB5	.;CK5P3_HUMAN	E	177;152	ENSP00000438886:A177E;ENSP00000344683:A152E	ENSP00000344683:A152E	A	+	2	0	CDK5RAP3	43407644	0.994000	0.37717	0.994000	0.49952	0.995000	0.86356	2.405000	0.44548	1.295000	0.44724	0.655000	0.94253	GCA	CDK5RAP3	-	pfam_DUF773		0.597	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1	C	NM_176096		46052645	+1	no_errors	ENST00000338399	ensembl	human	known	70_37	missense	SNP	0.985	A
CDK3	1018	genome.wustl.edu	37	17	74001454	74001454	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:74001454G>C	ENST00000425876.2	+	7	956	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.E290Q			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	290					cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E290Q(1)		central_nervous_system(1)	1						CTCATCCCCTGAGCCCTCCCC	0.587																																																	1	Substitution - Missense(1)	cervix(1)											80.0	67.0	71.0					17																	74001454		2203	4300	6503	SO:0001583	missense	1018			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.868G>C	17.37:g.74001454G>C	ENSP00000410561:p.Glu290Gln			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.E290Q	ENST00000425876.2	37	c.868	CCDS11736.1	17	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495323	0.26774	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	T;T	0.70399	-0.48;-0.48	4.11	3.13	0.36017	Protein kinase-like domain (1);	0.936355	0.08883	N	0.879785	T	0.52709	0.1751	N	0.16098	0.37	0.09310	N	0.999991	B	0.18968	0.032	B	0.19946	0.027	T	0.35001	-0.9806	10	0.32370	T	0.25	-15.3533	8.3995	0.32576	0.0919:0.1592:0.7489:0.0	.	290	Q00526	CDK3_HUMAN	Q	290	ENSP00000400088:E290Q;ENSP00000410561:E290Q	ENSP00000410561:E290Q	E	+	1	0	CDK3	71513049	0.009000	0.17119	0.036000	0.18154	0.014000	0.08584	1.264000	0.33015	2.277000	0.76020	0.491000	0.48974	GAG	CDK3	-	superfamily_Kinase-like_dom		0.587	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK3	HGNC	protein_coding	OTTHUMT00000337389.2	G	NM_001258		74001454	+1	no_errors	ENST00000425876	ensembl	human	known	70_37	missense	SNP	0.002	C
CDK8	1024	genome.wustl.edu	37	13	26959424	26959424	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:26959424C>T	ENST00000381527.3	+	6	1094	c.591C>T	c.(589-591)ttC>ttT	p.F197F	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.F197F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTGTTACATTCTGGTACCGAG	0.358																																																	1	Substitution - coding silent(1)	cervix(1)											90.0	90.0	90.0					13																	26959424		2203	4300	6503	SO:0001819	synonymous_variant	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.591C>T	13.37:g.26959424C>T			Q5VUF3|Q6ISB5	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.F197	ENST00000381527.3	37	c.591	CCDS9317.1	13																																																																																			CDK8	-	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		0.358	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK8	HGNC	protein_coding	OTTHUMT00000044250.1	C			26959424	+1	no_errors	ENST00000381527	ensembl	human	known	70_37	silent	SNP	1.000	T
CEBPA	1050	genome.wustl.edu	37	19	33792481	33792481	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:33792481C>G	ENST00000498907.2	-	1	989	c.840G>C	c.(838-840)aaG>aaC	p.K280N	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	280					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H200_K352>Q(1)|p.K280N(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CGTTGCTGTTCTTGTCCACCG	0.711			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																															Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	3	Substitution - Missense(1)|Unknown(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(2)|cervix(1)											32.0	33.0	33.0					19																	33792481		2203	4298	6501	SO:0001583	missense	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.840G>C	19.37:g.33792481C>G	ENSP00000427514:p.Lys280Asn		A7LNP2|P78319|Q05CA4	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.K280N	ENST00000498907.2	37	c.840	CCDS54243.1	19	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390889	0.82902	.	.	ENSG00000245848	ENST00000498907	T	0.46819	0.86	4.7	3.65	0.41850	Basic-leucine zipper (bZIP) transcription factor (1);	.	.	.	.	T	0.63355	0.2504	M	0.73217	2.22	0.80722	D	1	D	0.65815	0.995	D	0.63957	0.92	T	0.68089	-0.5501	9	0.87932	D	0	.	12.1846	0.54231	0.0:0.9146:0.0:0.0854	.	280	P49715	CEBPA_HUMAN	N	280	ENSP00000427514:K280N	ENSP00000427514:K280N	K	-	3	2	CEBPA	38484321	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.729000	0.62008	2.133000	0.65898	0.462000	0.41574	AAG	CEBPA	-	smart_bZIP,pirsf_CCAAT/enhancer-binding		0.711	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	HGNC	protein_coding	OTTHUMT00000365012.1	C	NM_004364		33792481	-1	no_errors	ENST00000498907	ensembl	human	known	70_37	missense	SNP	1.000	G
CECR2	27443	genome.wustl.edu	37	22	18021987	18021987	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:18021987C>G	ENST00000400585.2	+	16	2104	c.1666C>G	c.(1666-1668)Cag>Gag	p.Q556E	CECR2_ENST00000262608.8_Missense_Mutation_p.Q698E|CECR2_ENST00000400573.5_Missense_Mutation_p.Q697E			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	739					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.Q697E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGGCCCAAGTCAGGATGGAAG	0.587																																																	1	Substitution - Missense(1)	cervix(1)											24.0	26.0	25.0					22																	18021987		1980	4154	6134	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1666C>G	22.37:g.18021987C>G	ENSP00000383428:p.Gln556Glu		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q697E	ENST00000400585.2	37	c.2089		22	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174637	0.21704	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26660	1.84;1.84;1.72	5.43	5.43	0.79202	.	0.343447	0.22135	N	0.064130	T	0.25644	0.0624	M	0.62723	1.935	0.26815	N	0.968915	B;B;B	0.15473	0.013;0.013;0.013	B;B;B	0.15870	0.014;0.014;0.014	T	0.07083	-1.0791	10	0.28530	T	0.3	-8.2042	9.9006	0.41344	0.0:0.8512:0.0:0.1488	.	739;556;697	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	E	556;697;698	ENSP00000383428:Q556E;ENSP00000383417:Q697E;ENSP00000262608:Q698E	ENSP00000262608:Q698E	Q	+	1	0	CECR2	16401987	0.018000	0.18449	0.998000	0.56505	0.323000	0.28346	1.685000	0.37659	2.825000	0.97269	0.655000	0.94253	CAG	CECR2	-	NULL		0.587	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	C	NM_031413		18021987	+1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	0.894	G
CELSR2	1952	genome.wustl.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs377757908|rs59201433|rs144034706	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)acg>aCGCcg	p.16_17insP		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	16					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752														2846	0.568291	0.4198	0.6311	5008	,	,		10222	0.5298		0.7276	False		,,,				2504	0.6002				NSCLC(158;1285 2011 34800 34852 42084)												0										1363,1439		473,417,511						3.0	0.1		dbSNP_130	6	4135,1897		1679,777,560	no	coding	CELSR2	NM_001408.2		2152,1194,1071	A1A1,A1R,RR		31.4489,48.6438,37.7632				5498,3336				SO:0001652	inframe_insertion	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.47_49dupCGC	1.37:g.109792742_109792744dupCGC	ENSP00000271332:p.Pro16_Pro16dup		Q5T2Y7|Q92566	In_Frame_Ins	INS	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.16in_frame_insP	ENST00000271332.3	37	c.34_35	CCDS796.1	1																																																																																			CELSR2	-	NULL		0.752	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	-	NM_001408		109792736	+1	no_errors	ENST00000271332	ensembl	human	known	70_37	in_frame_ins	INS	0.060:0.468	CGC
CELSR2	1952	genome.wustl.edu	37	1	109814995	109814995	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:109814995G>C	ENST00000271332.3	+	29	8083	c.8022G>C	c.(8020-8022)aaG>aaC	p.K2674N	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2674					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.K2674N(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTCGGGCAAGAGTCAGCCCA	0.662																																					NSCLC(158;1285 2011 34800 34852 42084)												1	Substitution - Missense(1)	cervix(1)											73.0	79.0	77.0					1																	109814995		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8022G>C	1.37:g.109814995G>C	ENSP00000271332:p.Lys2674Asn		Q5T2Y7|Q92566	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.K2674N	ENST00000271332.3	37	c.8022	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289836	0.59976	.	.	ENSG00000143126	ENST00000271332	T	0.69040	-0.37	4.9	4.9	0.64082	.	.	.	.	.	T	0.50514	0.1620	L	0.54323	1.7	0.53005	D	0.999969	P	0.40000	0.698	B	0.38562	0.276	T	0.51795	-0.8660	9	0.25106	T	0.35	.	16.041	0.80683	0.0:0.0:1.0:0.0	.	2674	Q9HCU4	CELR2_HUMAN	N	2674	ENSP00000271332:K2674N	ENSP00000271332:K2674N	K	+	3	2	CELSR2	109616518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.366000	0.59492	2.571000	0.86741	0.561000	0.74099	AAG	CELSR2	-	NULL		0.662	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109814995	+1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	1.000	C
CELSR3	1951	genome.wustl.edu	37	3	48699501	48699501	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:48699501C>T	ENST00000164024.4	-	1	847	c.567G>A	c.(565-567)cgG>cgA	p.R189R	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.R189R	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	189					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R189R(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCAGCGTTCCGCTGGGAGG	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											48.0	57.0	54.0					3																	48699501		2200	4298	6498	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.567G>A	3.37:g.48699501C>T			O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,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.R189	ENST00000164024.4	37	c.567	CCDS2775.1	3																																																																																			CELSR3	-	NULL		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	C	NM_001407		48699501	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	silent	SNP	0.001	T
CEP104	9731	genome.wustl.edu	37	1	3745850	3745850	+	Missense_Mutation	SNP	C	C	G	rs143442406|rs35089650		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:3745850C>G	ENST00000378230.3	-	15	2455	c.2131G>C	c.(2131-2133)Gaa>Caa	p.E711Q	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	711						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.E711Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCCTGAATTTCTTTCAGTGCT	0.398																																																	1	Substitution - Missense(1)	cervix(1)											111.0	111.0	111.0					1																	3745850		2203	4300	6503	SO:0001583	missense	9731			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2131G>C	1.37:g.3745850C>G	ENSP00000367476:p.Glu711Gln		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	superfamily_Galactose-bd-like,superfamily_ARM-type_fold	p.E711Q	ENST00000378230.3	37	c.2131	CCDS30571.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.429079|4.429079	0.83667|0.83667	.|.	.|.	ENSG00000116198|ENSG00000116198	ENST00000378230|ENST00000438539	T|T	0.46819|0.43294	0.86|0.95	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.423542|.	0.24267|.	N|.	0.040036|.	T|T	0.52273|0.52273	0.1724|0.1724	L|L	0.43757|0.43757	1.38|1.38	0.80722|0.80722	D|D	1|1	B|.	0.24426|.	0.103|.	B|.	0.30572|.	0.117|.	T|T	0.53606|0.53606	-0.8415|-0.8415	10|7	0.19590|0.72032	T|D	0.45|0.01	.|.	17.5642|17.5642	0.87914|0.87914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	711|.	O60308|.	CE104_HUMAN|.	Q|N	711|7	ENSP00000367476:E711Q|ENSP00000395283:K7N	ENSP00000367476:E711Q|ENSP00000395283:K7N	E|K	-|-	1|3	0|2	CEP104|CEP104	3735710|3735710	0.992000|0.992000	0.36948|0.36948	0.016000|0.016000	0.15963|0.15963	0.017000|0.017000	0.09413|0.09413	3.654000|3.654000	0.54453|0.54453	2.482000|2.482000	0.83794|0.83794	0.591000|0.591000	0.81541|0.81541	GAA|AAG	CEP104	-	NULL		0.398	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	C	NM_014704		3745850	-1	no_errors	ENST00000378230	ensembl	human	known	70_37	missense	SNP	0.891	G
CEP120	153241	genome.wustl.edu	37	5	122734955	122734955	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:122734955C>G	ENST00000306467.5	-	5	791	c.487G>C	c.(487-489)Gac>Cac	p.D163H	CEP120_ENST00000306481.6_Missense_Mutation_p.D137H|CEP120_ENST00000395431.2_Missense_Mutation_p.D163H|CEP120_ENST00000328236.5_Missense_Mutation_p.D163H			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	163					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.D163H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TCCCTGGGGTCAAGTCCAGCC	0.398																																																	1	Substitution - Missense(1)	cervix(1)											81.0	82.0	81.0					5																	122734955		1964	4154	6118	SO:0001583	missense	153241			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.487G>C	5.37:g.122734955C>G	ENSP00000303058:p.Asp163His		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D163H	ENST00000306467.5	37	c.487	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981553	0.74474	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.47869	2.15;2.15;2.15;0.83	5.75	4.88	0.63580	.	0.219344	0.41097	D	0.000955	T	0.65533	0.2700	M	0.61703	1.905	0.37229	D	0.905605	D	0.89917	1.0	D	0.74674	0.984	T	0.73448	-0.3979	10	0.72032	D	0.01	-14.7944	14.9339	0.70938	0.0:0.9315:0.0:0.0685	.	163	Q8N960	CE120_HUMAN	H	163;163;137;137;163	ENSP00000303058:D163H;ENSP00000327504:D163H;ENSP00000307419:D137H;ENSP00000421620:D137H	ENSP00000303058:D163H	D	-	1	0	CEP120	122762854	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	3.732000	0.55021	1.441000	0.47550	0.655000	0.94253	GAC	CEP120	-	NULL		0.398	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2	C	NM_153223		122734955	-1	no_errors	ENST00000306467	ensembl	human	known	70_37	missense	SNP	1.000	G
CEP152	22995	genome.wustl.edu	37	15	49048135	49048135	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:49048135G>A	ENST00000380950.2	-	20	3497	c.3310C>T	c.(3310-3312)Ctg>Ttg	p.L1104L	CEP152_ENST00000325747.5_Silent_p.L1011L|CEP152_ENST00000399334.3_Silent_p.L1104L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1104					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.L1104L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTACAAGCAGAGGAAGTGTA	0.368																																																	1	Substitution - coding silent(1)	cervix(1)											163.0	159.0	160.0					15																	49048135		2015	4181	6196	SO:0001819	synonymous_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3310C>T	15.37:g.49048135G>A			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	NULL	p.L1104	ENST00000380950.2	37	c.3310	CCDS58361.1	15																																																																																			CEP152	-	NULL		0.368	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	G	NM_014985		49048135	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	silent	SNP	0.000	A
CEP85	64793	genome.wustl.edu	37	1	26603650	26603650	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:26603650G>C	ENST00000252992.4	+	14	2286	c.2155G>C	c.(2155-2157)Gat>Cat	p.D719H	CEP85_ENST00000451429.2_Missense_Mutation_p.D668H|SH3BGRL3_ENST00000319041.6_5'Flank|SH3BGRL3_ENST00000270792.5_5'Flank|CEP85_ENST00000469609.1_3'UTR	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	719						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.D719H(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GACTCAGCTAGATTTGCAGAA	0.468																																																	1	Substitution - Missense(1)	cervix(1)											195.0	187.0	190.0					1																	26603650		2203	4300	6503	SO:0001583	missense	64793			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2155G>C	1.37:g.26603650G>C	ENSP00000252992:p.Asp719His		B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	NULL	p.D719H	ENST00000252992.4	37	c.2155	CCDS277.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.418976|4.418976	0.83559|0.83559	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000451429;ENST00000252992|ENST00000453146	T;T|.	0.11712|.	2.75;2.75|.	5.92|5.92	5.0|5.0	0.66597|0.66597	.|.	0.092980|.	0.64402|.	D|.	0.000001|.	T|.	0.69548|.	0.3123|.	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.78314|.	0.964;0.965;0.991|.	T|.	0.68538|.	-0.5382|.	10|.	0.66056|.	D|.	0.02|.	-15.0699|-15.0699	14.7955|14.7955	0.69873|0.69873	0.0:0.0:0.8556:0.1444|0.0:0.0:0.8556:0.1444	.|.	668;719;718|.	F8W7K4;Q6P2H3;Q6P2H3-2|.	.;CEP85_HUMAN;.|.	H|Y	668;719|391	ENSP00000417002:D668H;ENSP00000252992:D719H|.	ENSP00000252992:D719H|.	D|X	+|+	1|3	0|2	CEP85|CEP85	26476237|26476237	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.941000|0.941000	0.58515|0.58515	9.022000|9.022000	0.93678|0.93678	1.497000|1.497000	0.48584|0.48584	0.561000|0.561000	0.74099|0.74099	GAT|TAG	CEP85	-	NULL		0.468	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2	G	NM_022778		26603650	+1	no_errors	ENST00000252992	ensembl	human	known	70_37	missense	SNP	0.999	C
CEP89	84902	genome.wustl.edu	37	19	33444634	33444634	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:33444634C>G	ENST00000305768.5	-	4	467	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	CEP89_ENST00000590597.2_Missense_Mutation_p.E127Q	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	127					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.E127Q(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TCAATGTCCTCTTCGTCCCCA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											168.0	137.0	147.0					19																	33444634		2203	4300	6503	SO:0001583	missense	84902			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.379G>C	19.37:g.33444634C>G	ENSP00000306105:p.Glu127Gln		B9EGA6|Q8N5J8	Missense_Mutation	SNP	NULL	p.E127Q	ENST00000305768.5	37	c.379	CCDS32987.1	19	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789893	0.50102	.	.	ENSG00000121289	ENST00000305768	T	0.33438	1.41	4.99	4.99	0.66335	.	0.464357	0.23353	N	0.049119	T	0.53302	0.1788	M	0.74258	2.255	0.40880	D	0.983989	D;P;P	0.76494	0.999;0.745;0.903	D;B;P	0.64776	0.929;0.354;0.585	T	0.58763	-0.7579	10	0.72032	D	0.01	-9.0807	14.1064	0.65093	0.0:1.0:0.0:0.0	.	98;127;127	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	Q	127	ENSP00000306105:E127Q	ENSP00000306105:E127Q	E	-	1	0	CEP89	38136474	0.850000	0.29656	0.950000	0.38849	0.138000	0.21146	3.806000	0.55583	2.450000	0.82876	0.585000	0.79938	GAG	CEP89	-	NULL		0.507	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP89	HGNC	protein_coding	OTTHUMT00000451300.2	C	NM_032816		33444634	-1	no_errors	ENST00000305768	ensembl	human	known	70_37	missense	SNP	0.994	G
CEP97	79598	genome.wustl.edu	37	3	101447778	101447778	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:101447778G>A	ENST00000341893.3	+	4	1196	c.444G>A	c.(442-444)ctG>ctA	p.L148L	CEP97_ENST00000327230.4_Silent_p.L148L|CEP97_ENST00000494050.1_Silent_p.L148L			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	148					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.L148L(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGTATCCCTGAAAGTAAGTA	0.358																																																	2	Substitution - coding silent(2)	cervix(2)											138.0	135.0	136.0					3																	101447778		2203	4300	6503	SO:0001819	synonymous_variant	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.444G>A	3.37:g.101447778G>A			B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.L148	ENST00000341893.3	37	c.444	CCDS2944.1	3																																																																																			CEP97	-	NULL		0.358	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	G	NM_024548		101447778	+1	no_errors	ENST00000327230	ensembl	human	known	70_37	silent	SNP	0.975	A
CFTR	1080	genome.wustl.edu	37	7	117232505	117232505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:117232505C>T	ENST00000003084.6	+	14	2416	c.2284C>T	c.(2284-2286)Cag>Tag	p.Q762*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.Q701*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	762					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.Q762*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CCCCACGCTTCAGGCACGAAG	0.522									Cystic Fibrosis																																								1	Substitution - Nonsense(1)	cervix(1)											81.0	59.0	67.0					7																	117232505		2203	4300	6503	SO:0001587	stop_gained	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2284C>T	7.37:g.117232505C>T	ENSP00000003084:p.Gln762*		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_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,tigrfam_cAMP_cl_channel	p.Q762*	ENST00000003084.6	37	c.2284	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235329	0.79800	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	5.35	5.35	0.76521	.	0.354569	0.33553	N	0.004793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-1.4096	15.0824	0.72125	0.1424:0.8576:0.0:0.0	.	.	.	.	X	762;701;732	.	ENSP00000003084:Q762X	Q	+	1	0	CFTR	117019741	0.465000	0.25815	0.064000	0.19789	0.082000	0.17680	1.924000	0.40065	2.653000	0.90120	0.563000	0.77884	CAG	CFTR	-	tigrfam_cAMP_cl_channel		0.522	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	C	NM_000492		117232505	+1	no_errors	ENST00000003084	ensembl	human	known	70_37	nonsense	SNP	0.071	T
CHD5	26038	genome.wustl.edu	37	1	6214952	6214952	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:6214952G>C	ENST00000262450.3	-	5	612	c.513C>G	c.(511-513)ctC>ctG	p.L171L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L171L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTTGGCAATGAGTGGCCTGT	0.632																																																	1	Substitution - coding silent(1)	cervix(1)											49.0	53.0	52.0					1																	6214952		2203	4300	6503	SO:0001819	synonymous_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.513C>G	1.37:g.6214952G>C			A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L171	ENST00000262450.3	37	c.513	CCDS57.1	1																																																																																			CHD5	-	pfam_CHD_N,superfamily_HMG_superfamily		0.632	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	G	NM_015557		6214952	-1	no_errors	ENST00000262450	ensembl	human	known	70_37	silent	SNP	0.997	C
CHD6	84181	genome.wustl.edu	37	20	40033628	40033628	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:40033628C>T	ENST00000373233.3	-	37	7930	c.7753G>A	c.(7753-7755)Gag>Aag	p.E2585K	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2585					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.E2585K(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGCTTGTCCTCAGCTAAAGTG	0.473																																																	1	Substitution - Missense(1)	cervix(1)											158.0	160.0	160.0					20																	40033628		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7753G>A	20.37:g.40033628C>T	ENSP00000362330:p.Glu2585Lys		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,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.E2585K	ENST00000373233.3	37	c.7753	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503558	0.44558	.	.	ENSG00000124177	ENST00000373233	D	0.86432	-2.12	5.46	5.46	0.80206	.	0.097385	0.45361	D	0.000379	T	0.81513	0.4838	L	0.40543	1.245	0.80722	D	1	B	0.27559	0.181	B	0.21708	0.036	T	0.76796	-0.2827	10	0.30854	T	0.27	-10.8648	14.3604	0.66768	0.1477:0.8522:0.0:0.0	.	2585	Q8TD26	CHD6_HUMAN	K	2585	ENSP00000362330:E2585K	ENSP00000362330:E2585K	E	-	1	0	CHD6	39467042	0.998000	0.40836	0.942000	0.38095	0.802000	0.45316	3.379000	0.52440	2.840000	0.97914	0.655000	0.94253	GAG	CHD6	-	NULL		0.473	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40033628	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	0.991	T
CHD7	55636	genome.wustl.edu	37	8	61765259	61765259	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:61765259G>C	ENST00000423902.2	+	30	6576	c.6097G>C	c.(6097-6099)Gat>Cat	p.D2033H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2033					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.D2033H(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CGTCAAGCCAGATGATGGTAG	0.398																																																	2	Substitution - Missense(2)	cervix(2)											57.0	56.0	56.0					8																	61765259		1886	4125	6011	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6097G>C	8.37:g.61765259G>C	ENSP00000392028:p.Asp2033His		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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.D2033H	ENST00000423902.2	37	c.6097	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586782	0.86851	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.87412	-2.25	5.48	5.48	0.80851	.	0.182873	0.47455	D	0.000224	D	0.91529	0.7325	L	0.55990	1.75	0.54753	D	0.999988	D	0.69078	0.997	D	0.65987	0.94	D	0.89999	0.4113	10	0.35671	T	0.21	-6.9096	19.3552	0.94410	0.0:0.0:1.0:0.0	.	2033	Q9P2D1	CHD7_HUMAN	H	2033	ENSP00000392028:D2033H	ENSP00000307304:D2033H	D	+	1	0	CHD7	61927813	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.821000	0.99360	2.583000	0.87209	0.655000	0.94253	GAT	CHD7	-	NULL		0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61765259	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	C
CHD8	57680	genome.wustl.edu	37	14	21870148	21870148	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:21870148C>T	ENST00000557364.1	-	20	4293	c.4030G>A	c.(4030-4032)Gaa>Aaa	p.E1344K	CHD8_ENST00000430710.3_Missense_Mutation_p.E1065K|CHD8_ENST00000399982.2_Missense_Mutation_p.E1344K|CHD8_ENST00000555962.1_5'UTR			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1344					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.E1344K(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)		CCTTCAGATTCAATGGTGATG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											173.0	168.0	169.0					14																	21870148		2010	4208	6218	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.4030G>A	14.37:g.21870148C>T	ENSP00000451601:p.Glu1344Lys		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.E1344K	ENST00000557364.1	37	c.4030	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	34	5.403374	0.96051	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.83591	-1.74;-1.74;-1.74	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90793	0.7109	M	0.71036	2.16	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.68943	0.915;0.961	D	0.90193	0.4251	10	0.62326	D	0.03	-15.5267	19.6509	0.95805	0.0:1.0:0.0:0.0	.	1344;1065	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	K	1065;1344;1064;1344	ENSP00000406288:E1065K;ENSP00000382863:E1344K;ENSP00000451601:E1344K	ENSP00000262707:E1064K	E	-	1	0	CHD8	20939988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.043000	0.71004	2.941000	0.99782	0.655000	0.94253	GAA	CHD8	-	NULL		0.418	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21870148	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	T
CHD8	57680	genome.wustl.edu	37	14	21870187	21870187	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:21870187C>G	ENST00000557364.1	-	20	4254	c.3991G>C	c.(3991-3993)Gac>Cac	p.D1331H	CHD8_ENST00000430710.3_Missense_Mutation_p.D1052H|CHD8_ENST00000399982.2_Missense_Mutation_p.D1331H|CHD8_ENST00000555962.1_5'UTR			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1331					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.D1331H(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)		AAGATCTGGTCAATGTCCTCT	0.418																																																	1	Substitution - Missense(1)	cervix(1)											172.0	167.0	168.0					14																	21870187		2033	4229	6262	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.3991G>C	14.37:g.21870187C>G	ENSP00000451601:p.Asp1331His		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.D1331H	ENST00000557364.1	37	c.3991	CCDS53885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.430252|4.430252	0.83776|0.83776	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	T;T;T|.	0.78246|.	-1.16;-1.16;-1.16|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87406|.	0.6169|.	M|M	0.94063|0.94063	3.49|3.49	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.997;0.998|.	D|.	0.89274|.	0.3607|.	10|.	0.87932|.	D|.	0|.	-12.4744|-12.4744	19.6509|19.6509	0.95805|0.95805	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1331;1052|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	H|S	1052;1331;1051;1331|556	ENSP00000406288:D1052H;ENSP00000382863:D1331H;ENSP00000451601:D1331H|.	ENSP00000262707:D1051H|.	D|X	-|-	1|2	0|2	CHD8|CHD8	20940027|20940027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.776000|7.776000	0.85560|0.85560	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|TGA	CHD8	-	NULL		0.418	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21870187	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	G
CHGA	1113	genome.wustl.edu	37	14	93396082	93396082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:93396082C>T	ENST00000216492.5	+	5	557	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	CHGA_ENST00000334654.4_Nonsense_Mutation_p.Q93*|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	93					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)		p.Q93*(1)		cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GAGGGCACATCAGCAGAAGAA	0.522																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												1	Substitution - Nonsense(1)	cervix(1)											71.0	72.0	71.0					14																	93396082		2203	4300	6503	SO:0001587	stop_gained	1113				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.277C>T	14.37:g.93396082C>T	ENSP00000216492:p.Gln93*		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Nonsense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.Q93*	ENST00000216492.5	37	c.277	CCDS9906.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.441224	0.96187	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	.	.	.	4.78	4.78	0.61160	.	0.451567	0.22553	N	0.058562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-8.9971	12.0045	0.53251	0.1726:0.8274:0.0:0.0	.	.	.	.	X	93	.	ENSP00000216492:Q93X	Q	+	1	0	CHGA	92465835	0.996000	0.38824	0.042000	0.18584	0.817000	0.46193	3.365000	0.52335	2.225000	0.72522	0.561000	0.74099	CAG	CHGA	-	pfam_Granin		0.522	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	C	NM_001275		93396082	+1	no_errors	ENST00000216492	ensembl	human	known	70_37	nonsense	SNP	0.992	T
CHKB	1120	genome.wustl.edu	37	22	51020270	51020270	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:51020270C>G	ENST00000406938.2	-	3	572	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CPT1B_ENST00000434492.2_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	119					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)	p.E119Q(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		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)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	ATCACGCTTTCTAGCACCAGG	0.617																																																	1	Substitution - Missense(1)	cervix(1)											71.0	72.0	72.0					22																	51020270		2203	4300	6503	SO:0001583	missense	1120			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.355G>C	22.37:g.51020270C>G	ENSP00000384400:p.Glu119Gln		A0PJM6|Q13388	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.E119Q	ENST00000406938.2	37	c.355	CCDS14099.1	22	.	.	.	.	.	.	.	.	.	.	C	26.6	4.758090	0.89843	.	.	ENSG00000100288	ENST00000406938	T	0.77358	-1.09	4.97	4.97	0.65823	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94601	0.7796	10	0.87932	D	0	-23.2823	15.727	0.77770	0.0:1.0:0.0:0.0	.	119	Q9Y259	CHKB_HUMAN	Q	119	ENSP00000384400:E119Q	ENSP00000384400:E119Q	E	-	1	0	CHKB	49367136	1.000000	0.71417	0.836000	0.33094	0.645000	0.38454	5.770000	0.68873	2.293000	0.77203	0.555000	0.69702	GAA	CHKB	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.617	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHKB	HGNC	protein_coding	OTTHUMT00000317267.3	C	NM_005198		51020270	-1	no_errors	ENST00000406938	ensembl	human	known	70_37	missense	SNP	1.000	G
CHRNB2	1141	genome.wustl.edu	37	1	154543731	154543731	+	Silent	SNP	C	C	T	rs199536721		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:154543731C>T	ENST00000368476.3	+	5	696	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	144					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|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)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.F144F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GCAGCATCTTCTGGCTGCCGC	0.537																																																	1	Substitution - coding silent(1)	cervix(1)						C		0,4406		0,0,2203	114.0	105.0	108.0		432	1.4	1.0	1		108	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CHRNB2	NM_000748.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		144/503	154543731	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1141			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.432C>T	1.37:g.154543731C>T			Q9UEH9	Silent	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,tigrfam_Neur_channel	p.F144	ENST00000368476.3	37	c.432	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel		0.537	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	C	NM_000748		154543731	+1	no_errors	ENST00000368476	ensembl	human	known	70_37	silent	SNP	1.000	T
CHRNE	1145	genome.wustl.edu	37	17	4805969	4805969	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:4805969C>G	ENST00000293780.4	-	2	146	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	46					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)	p.E46Q(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	ACAGTATCCTCAGGCTCCCGC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											149.0	157.0	154.0					17																	4805969		2203	4300	6503	SO:0001583	missense	1145			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	ENST00000293780.4:c.136G>C	17.37:g.4805969C>G	ENSP00000293780:p.Glu46Gln		D3DTK6	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.E46Q	ENST00000293780.4	37	c.136	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602670	0.66445	.	.	ENSG00000108556	ENST00000293780	T	0.78246	-1.16	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel ligand-binding (3);	0.155164	0.56097	D	0.000027	T	0.77301	0.4110	L	0.37750	1.13	0.80722	D	1	P	0.38223	0.623	P	0.48524	0.58	T	0.77429	-0.2591	10	0.49607	T	0.09	.	13.8921	0.63744	0.0:1.0:0.0:0.0	.	46	Q04844	ACHE_HUMAN	Q	46	ENSP00000293780:E46Q	ENSP00000293780:E46Q	E	-	1	0	CHRNE	4746748	0.570000	0.26651	0.996000	0.52242	0.573000	0.36030	2.081000	0.41596	2.648000	0.89879	0.650000	0.86243	GAG	CHRNE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.552	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	C			4805969	-1	no_errors	ENST00000293780	ensembl	human	known	70_37	missense	SNP	1.000	G
CHST14	113189	genome.wustl.edu	37	15	40764159	40764159	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:40764159G>A	ENST00000306243.5	+	1	1000	c.747G>A	c.(745-747)gcG>gcA	p.A249A	CHST14_ENST00000559991.1_Silent_p.A224A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	249					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)	p.A249A(1)		cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGGCTGGAGCGGGGCCCAGCC	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											77.0	93.0	88.0					15																	40764159		2203	4300	6503	SO:0001819	synonymous_variant	113189			AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.747G>A	15.37:g.40764159G>A			Q6PJ31|Q6UXA0|Q96P94	Silent	SNP	pfam_Sulfotransferase	p.A249	ENST00000306243.5	37	c.747	CCDS10059.1	15																																																																																			CHST14	-	pfam_Sulfotransferase		0.597	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST14	HGNC	protein_coding	OTTHUMT00000252251.1	G	NM_130468		40764159	+1	no_errors	ENST00000306243	ensembl	human	known	70_37	silent	SNP	0.002	A
CHST4	10164	genome.wustl.edu	37	16	71570649	71570649	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:71570649C>G	ENST00000338482.5	+	3	412	c.69C>G	c.(67-69)ttC>ttG	p.F23L	CHST4_ENST00000539698.3_Missense_Mutation_p.F23L|CHST4_ENST00000572450.1_Missense_Mutation_p.F23L|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	23					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.F23L(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGGCTCTATTCTTCCACATGT	0.498																																																	1	Substitution - Missense(1)	cervix(1)											111.0	107.0	109.0					16																	71570649		2198	4300	6498	SO:0001583	missense	10164			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.69C>G	16.37:g.71570649C>G	ENSP00000341206:p.Phe23Leu		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.F23L	ENST00000338482.5	37	c.69	CCDS10902.1	16	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645113	0.29246	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.95788	-3.81;-3.81	5.87	-2.8	0.05823	.	0.570110	0.17175	N	0.184107	D	0.82351	0.5018	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.74266	-0.3721	10	0.07030	T	0.85	-32.2236	2.9549	0.05874	0.1103:0.3689:0.3227:0.1981	.	23	Q8NCG5	CHST4_HUMAN	L	23	ENSP00000341206:F23L;ENSP00000441204:F23L	ENSP00000341206:F23L	F	+	3	2	CHST4	70128150	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.257000	0.08745	-0.411000	0.07530	0.563000	0.77884	TTC	CHST4	-	pirsf_Carbohydrate_sulfotransferase		0.498	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4	C	NM_005769		71570649	+1	no_errors	ENST00000338482	ensembl	human	known	70_37	missense	SNP	0.000	G
CIAPIN1	57019	genome.wustl.edu	37	16	57468100	57468100	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:57468100C>T	ENST00000569979.1	-	4	458	c.412G>A	c.(412-414)Gag>Aag	p.E138K	CIAPIN1_ENST00000565961.1_Missense_Mutation_p.E111K|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.E138K|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.E138K|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.E138K|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.E125K					cytokine induced apoptosis inhibitor 1									p.E138K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGTACTTCCTCAGGGGTTAGG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											114.0	106.0	109.0					16																	57468100		1896	4117	6013	SO:0001583	missense	57019			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.412G>A	16.37:g.57468100C>T	ENSP00000458000:p.Glu138Lys			Missense_Mutation	SNP	pfam_CIAPIN1	p.E138K	ENST00000569979.1	37	c.412		16	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274735	0.23307	.	.	ENSG00000005194	ENST00000394391	T	0.31510	1.49	5.28	3.34	0.38264	.	0.208574	0.49916	N	0.000133	T	0.26448	0.0646	L	0.46614	1.455	0.58432	D	0.999998	B;B;B	0.13145	0.005;0.007;0.0	B;B;B	0.17722	0.014;0.019;0.002	T	0.04481	-1.0948	10	0.30078	T	0.28	-19.3281	11.4361	0.50068	0.0:0.8525:0.0:0.1475	.	138;125;138	B4DHB9;Q6FI81-3;Q6FI81	.;.;CPIN1_HUMAN	K	138	ENSP00000377914:E138K	ENSP00000377914:E138K	E	-	1	0	CIAPIN1	56025601	0.994000	0.37717	0.452000	0.26994	0.004000	0.04260	3.269000	0.51592	0.737000	0.32582	-0.244000	0.11960	GAG	CIAPIN1	-	NULL		0.448	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	CIAPIN1	HGNC	protein_coding	OTTHUMT00000432580.1	C	NM_020313		57468100	-1	no_errors	ENST00000394391	ensembl	human	known	70_37	missense	SNP	0.985	T
CHST5	23563	genome.wustl.edu	37	16	75563112	75563112	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:75563112C>T	ENST00000336257.3	-	3	2565	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	CHST5_ENST00000541075.1_Missense_Mutation_p.D397N|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	391					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.D391N(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGGGTGAGGTCACGCTGCTGG	0.657																																																	1	Substitution - Missense(1)	cervix(1)											36.0	31.0	33.0					16																	75563112		2198	4300	6498	SO:0001583	missense	23563			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1171G>A	16.37:g.75563112C>T	ENSP00000338783:p.Asp391Asn		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.D397N	ENST00000336257.3	37	c.1189	CCDS10919.1	16	.	.	.	.	.	.	.	.	.	.	C	0.303	-0.972856	0.02215	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.96554	-4.05;-4.05	2.84	1.87	0.25490	.	0.323127	0.32120	N	0.006546	D	0.87176	0.6112	N	0.10916	0.065	0.27869	N	0.94011	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.001	T	0.74160	-0.3755	10	0.02654	T	1	.	8.7567	0.34650	0.0:0.8792:0.0:0.1208	.	397;391	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	N	391;397	ENSP00000338783:D391N;ENSP00000441220:D397N	ENSP00000338783:D391N	D	-	1	0	CHST5	74120613	0.083000	0.21467	0.950000	0.38849	0.090000	0.18270	0.554000	0.23407	0.520000	0.28426	0.313000	0.20887	GAC	CHST5	-	pirsf_Carbohydrate_sulfotransferase		0.657	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	C	NM_012126		75563112	-1	no_errors	ENST00000541075	ensembl	human	known	70_37	missense	SNP	0.922	T
CIB3	117286	genome.wustl.edu	37	19	16275611	16275611	+	Missense_Mutation	SNP	C	C	G	rs572224060		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:16275611C>G	ENST00000269878.4	-	5	509	c.460G>C	c.(460-462)Gat>Cat	p.D154H	CIB3_ENST00000379859.3_Missense_Mutation_p.D105H|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	154	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.D154H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCAGCCTCATCCAGCACCTTC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											141.0	122.0	128.0					19																	16275611		2203	4300	6503	SO:0001583	missense	117286			AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.460G>C	19.37:g.16275611C>G	ENSP00000269878:p.Asp154His		E7EUX1|Q2M1W0|Q6ISP1	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.D154H	ENST00000269878.4	37	c.460	CCDS12340.1	19	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973614	0.53720	.	.	ENSG00000141977	ENST00000269878;ENST00000379859	T;T	0.71341	-0.56;-0.56	4.78	3.72	0.42706	EF-hand-like domain (1);	0.147813	0.64402	D	0.000019	T	0.74084	0.3670	L	0.56396	1.775	0.80722	D	1	P;P	0.41498	0.752;0.752	P;P	0.52710	0.707;0.615	T	0.75147	-0.3420	10	0.59425	D	0.04	-18.1479	8.6416	0.33981	0.1642:0.7479:0.0:0.0879	.	105;154	E7EUX1;Q96Q77	.;CIB3_HUMAN	H	154;105	ENSP00000269878:D154H;ENSP00000369188:D105H	ENSP00000269878:D154H	D	-	1	0	CIB3	16136611	1.000000	0.71417	0.985000	0.45067	0.339000	0.28857	4.752000	0.62176	2.385000	0.81259	0.462000	0.41574	GAT	CIB3	-	pfscan_EF_HAND_2		0.597	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB3	HGNC	protein_coding	OTTHUMT00000460351.1	C	NM_054113		16275611	-1	no_errors	ENST00000269878	ensembl	human	known	70_37	missense	SNP	0.997	G
CIZ1	25792	genome.wustl.edu	37	9	130947884	130947884	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:130947884G>A	ENST00000393608.1	-	5	732	c.530C>T	c.(529-531)tCa>tTa	p.S177L	CIZ1_ENST00000538431.1_Missense_Mutation_p.S177L|CIZ1_ENST00000372938.5_Missense_Mutation_p.S177L|CIZ1_ENST00000325721.8_Missense_Mutation_p.S153L|CIZ1_ENST00000357558.5_Missense_Mutation_p.S177L|CIZ1_ENST00000372948.3_Missense_Mutation_p.S177L|CIZ1_ENST00000372954.1_Missense_Mutation_p.S153L|CIZ1_ENST00000541172.1_Missense_Mutation_p.S76L|CIZ1_ENST00000277465.4_Missense_Mutation_p.S177L|CIZ1_ENST00000476727.2_5'UTR	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	177					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S177L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GTTCCGTCCTGAAAGGTTGAA	0.602																																																	1	Substitution - Missense(1)	cervix(1)											71.0	72.0	72.0					9																	130947884		2203	4300	6503	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.530C>T	9.37:g.130947884G>A	ENSP00000377232:p.Ser177Leu		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.S177L	ENST00000393608.1	37	c.530	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498365	0.85069	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544	T;T;T;T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.44	4.54	0.55810	.	0.953957	0.08622	N	0.918282	T	0.76751	0.4031	L	0.29908	0.895	0.26014	N	0.981958	P;P;P;P;P;D;P;P	0.65815	0.728;0.917;0.952;0.95;0.95;0.995;0.822;0.917	B;B;P;P;P;P;B;B	0.59115	0.196;0.367;0.668;0.57;0.57;0.852;0.242;0.367	T	0.64753	-0.6333	10	0.48119	T	0.1	-5.698	11.1966	0.48717	0.0846:0.0:0.9154:0.0	.	177;177;177;177;153;177;153;177	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	L	153;177;177;177;153;144;76;177;153;177;177;104;177	ENSP00000362045:S153L;ENSP00000377232:S177L;ENSP00000439244:S177L;ENSP00000350169:S177L;ENSP00000320374:S153L;ENSP00000445057:S76L;ENSP00000277465:S177L;ENSP00000362039:S177L;ENSP00000362029:S177L;ENSP00000398011:S104L;ENSP00000321780:S177L	ENSP00000277465:S177L	S	-	2	0	CIZ1	129987705	1.000000	0.71417	0.866000	0.34008	0.852000	0.48524	5.234000	0.65343	1.522000	0.49001	0.655000	0.94253	TCA	CIZ1	-	NULL		0.602	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	G	NM_012127		130947884	-1	no_errors	ENST00000538431	ensembl	human	known	70_37	missense	SNP	0.740	A
CLASP1	23332	genome.wustl.edu	37	2	122176241	122176241	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:122176241C>G	ENST00000263710.4	-	23	2666	c.2277G>C	c.(2275-2277)gaG>gaC	p.E759D	CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000545861.1_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	759	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.E759D(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTCGGCTGCTCTCACGGCTGG	0.587																																																	1	Substitution - Missense(1)	cervix(1)											74.0	84.0	81.0					2																	122176241		2084	4200	6284	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2277G>C	2.37:g.122176241C>G	ENSP00000263710:p.Glu759Asp		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E759D	ENST00000263710.4	37	c.2277		2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536485	0.85812	.	.	ENSG00000074054	ENST00000263710	T	0.20463	2.07	5.88	5.88	0.94601	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	L	0.36672	1.1	0.80722	D	1	D	0.59767	0.986	P	0.46685	0.524	T	0.00456	-1.1728	10	0.66056	D	0.02	-15.899	13.4322	0.61062	0.0:0.9286:0.0:0.0714	.	759	Q7Z460	CLAP1_HUMAN	D	759	ENSP00000263710:E759D	ENSP00000263710:E759D	E	-	3	2	CLASP1	121892711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.050000	0.49877	2.789000	0.95967	0.591000	0.81541	GAG	CLASP1	-	superfamily_ARM-type_fold		0.587	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		C	NM_015282		122176241	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	missense	SNP	1.000	G
CLCA4	22802	genome.wustl.edu	37	1	87043590	87043590	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:87043590G>C	ENST00000370563.3	+	12	1999	c.1957G>C	c.(1957-1959)Gat>Cat	p.D653H	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	653					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.D653H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACAAGGCGCTGATTCTTTCAA	0.368																																																	1	Substitution - Missense(1)	cervix(1)											48.0	44.0	45.0					1																	87043590		1808	4070	5878	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1957G>C	1.37:g.87043590G>C	ENSP00000359594:p.Asp653His		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.D653H	ENST00000370563.3	37	c.1957	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145417	0.77888	.	.	ENSG00000016602	ENST00000370563	T	0.57107	0.42	5.12	5.12	0.69794	Domain of unknown function DUF1973 (1);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80137	-0.1508	10	0.87932	D	0	-37.3958	18.7018	0.91623	0.0:0.0:1.0:0.0	.	205;653	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	H	653	ENSP00000359594:D653H	ENSP00000359594:D653H	D	+	1	0	CLCA4	86816178	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.245000	0.65405	2.817000	0.96982	0.563000	0.77884	GAT	CLCA4	-	pfam_DUF1973,tigrfam_CaCC_prot		0.368	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1	G	NM_012128		87043590	+1	no_errors	ENST00000370563	ensembl	human	known	70_37	missense	SNP	1.000	C
CLDN16	10686	genome.wustl.edu	37	3	190120149	190120149	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:190120149C>G	ENST00000264734.2	+	2	596	c.348C>G	c.(346-348)ctC>ctG	p.L116L	CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	116					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.L116L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GCCGAGGCCTCTGGTGGGAAT	0.473																																																	1	Substitution - coding silent(1)	cervix(1)											162.0	152.0	155.0					3																	190120149		2203	4300	6503	SO:0001819	synonymous_variant	10686			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.348C>G	3.37:g.190120149C>G				Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin	p.L116	ENST00000264734.2	37	c.348	CCDS3296.1	3																																																																																			CLDN16	-	pfam_PMP22/EMP/MP20/Claudin		0.473	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN16	HGNC	protein_coding	OTTHUMT00000343519.1	C	NM_006580		190120149	+1	no_errors	ENST00000264734	ensembl	human	known	70_37	silent	SNP	1.000	G
CLEC14A	161198	genome.wustl.edu	37	14	38724388	38724388	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:38724388C>T	ENST00000342213.2	-	1	1186	c.840G>A	c.(838-840)ggG>ggA	p.G280G		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	280	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G280G(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGCCGTCCTTCCCCAGCTCGA	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											52.0	57.0	55.0					14																	38724388		2203	4300	6503	SO:0001819	synonymous_variant	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.840G>A	14.37:g.38724388C>T			Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G280	ENST00000342213.2	37	c.840	CCDS9667.1	14																																																																																			CLEC14A	-	NULL		0.677	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	C	NM_175060		38724388	-1	no_errors	ENST00000342213	ensembl	human	known	70_37	silent	SNP	0.064	T
CLEC4G	339390	genome.wustl.edu	37	19	7795304	7795304	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:7795304G>A	ENST00000328853.5	-	6	479	c.411C>T	c.(409-411)gcC>gcT	p.A137A	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	137						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A137A(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GGCCCCTGCCGGCTTCAGCCA	0.682																																					Esophageal Squamous(146;540 1807 3349 19438 30853)												1	Substitution - coding silent(1)	cervix(1)											24.0	29.0	27.0					19																	7795304		2194	4283	6477	SO:0001819	synonymous_variant	339390			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.411C>T	19.37:g.7795304G>A				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.A137	ENST00000328853.5	37	c.411	CCDS12185.1	19																																																																																			CLEC4G	-	NULL		0.682	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4G	HGNC	protein_coding	OTTHUMT00000461989.1	G	NM_198492		7795304	-1	no_errors	ENST00000328853	ensembl	human	known	70_37	silent	SNP	0.000	A
CLK3	1198	genome.wustl.edu	37	15	74922134	74922134	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:74922134C>G	ENST00000395066.3	+	13	2288	c.1827C>G	c.(1825-1827)atC>atG	p.I609M	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Missense_Mutation_p.I438M|CLK3_ENST00000345005.4_Missense_Mutation_p.I461M	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	609	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.I609M(1)|p.I461M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCCAGCGCATCACACTGGCCG	0.597																																					Ovarian(133;694 1754 28950 29027 31859)												2	Substitution - Missense(2)	cervix(2)											75.0	57.0	63.0					15																	74922134		2197	4296	6493	SO:0001583	missense	1198			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1827C>G	15.37:g.74922134C>G	ENSP00000378505:p.Ile609Met		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	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.I609M	ENST00000395066.3	37	c.1827	CCDS45304.1	15	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386858	0.61956	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.21734	1.99;1.99	5.23	5.23	0.72850	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	0.64402	D	0.000002	T	0.44891	0.1315	M	0.70275	2.135	0.80722	D	1	B;B;B;B	0.33748	0.157;0.125;0.291;0.423	P;B;B;P	0.52189	0.625;0.294;0.422;0.692	T	0.27872	-1.0061	10	0.42905	T	0.14	.	18.3804	0.90448	0.0:1.0:0.0:0.0	.	609;314;388;438	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	M	461;461;609;438	ENSP00000344112:I461M;ENSP00000323106:I438M	ENSP00000344112:I461M	I	+	3	3	CLK3	72709187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.516000	0.45520	2.457000	0.83068	0.561000	0.74099	ATC	CLK3	-	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		0.597	CLK3-003	KNOWN	basic|CCDS	protein_coding	CLK3	HGNC	protein_coding	OTTHUMT00000390442.3	C			74922134	+1	no_errors	ENST00000395066	ensembl	human	known	70_37	missense	SNP	1.000	G
CMYA5	202333	genome.wustl.edu	37	5	79027909	79027909	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:79027909C>G	ENST00000446378.2	+	2	3352	c.3321C>G	c.(3319-3321)ctC>ctG	p.L1107L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1107					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.L1107L(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGAATATCTCATTTTGGCAC	0.413																																																	2	Substitution - coding silent(2)	cervix(2)											81.0	76.0	77.0					5																	79027909		1868	4102	5970	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3321C>G	5.37:g.79027909C>G			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.L1107	ENST00000446378.2	37	c.3321	CCDS47238.1	5																																																																																			CMYA5	-	NULL		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79027909	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	silent	SNP	0.922	G
CNBD2	140894	genome.wustl.edu	37	20	34572654	34572654	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:34572654G>A	ENST00000373973.3	+	6	843	c.670G>A	c.(670-672)Gac>Aac	p.D224N	CNBD2_ENST00000538900.1_Missense_Mutation_p.D224N|CNBD2_ENST00000349339.1_Missense_Mutation_p.D224N			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	224								p.D224N(1)									TAATAAGCTGGACCAGGAAGT	0.453																																																	1	Substitution - Missense(1)	cervix(1)											195.0	178.0	184.0					20																	34572654		2203	4300	6503	SO:0001583	missense	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.670G>A	20.37:g.34572654G>A	ENSP00000363084:p.Asp224Asn		Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D224N	ENST00000373973.3	37	c.670		20	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522822	0.64747	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.12984	2.63;2.63;2.63	4.98	4.03	0.46877	Cyclic nucleotide-binding-like (1);Cyclic nucleotide-binding domain (1);	0.234856	0.35407	N	0.003234	T	0.27205	0.0667	M	0.69823	2.125	0.30419	N	0.778323	P;D	0.65815	0.944;0.995	P;P	0.60949	0.663;0.881	T	0.10520	-1.0626	10	0.11182	T	0.66	-8.5255	11.2401	0.48964	0.0894:0.0:0.9105:0.0	.	224;224	Q96M20;Q96M20-2	CT152_HUMAN;.	N	224	ENSP00000363084:D224N;ENSP00000340954:D224N;ENSP00000442729:D224N	ENSP00000340954:D224N	D	+	1	0	C20orf152	34036068	1.000000	0.71417	0.209000	0.23619	0.593000	0.36681	3.066000	0.50002	1.228000	0.43614	0.655000	0.94253	GAC	CNBD2	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom		0.453	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	G	NM_080834		34572654	+1	no_errors	ENST00000373973	ensembl	human	known	70_37	missense	SNP	0.999	A
CNIH1	10175	genome.wustl.edu	37	14	54903140	54903140	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:54903140C>T	ENST00000216416.4	-	2	200	c.97G>A	c.(97-99)Gag>Aag	p.E33K	CNIH1_ENST00000553660.1_Intron|CNIH1_ENST00000556113.1_Missense_Mutation_p.E33K|CNIH1_ENST00000395573.4_Missense_Mutation_p.E33K|CNIH1_ENST00000557690.1_Missense_Mutation_p.E33K	NM_005776.2	NP_005767.1	O95406	CNIH1_HUMAN	cornichon family AMPA receptor auxiliary protein 1	33					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E33K(1)									GTCTTCAGCTCATCAAATGCT	0.294																																																	1	Substitution - Missense(1)	cervix(1)											40.0	42.0	42.0					14																	54903140		2203	4288	6491	SO:0001583	missense	10175			AF031379	CCDS9717.1	14q22.1	2013-08-28	2013-08-28	2013-08-28	ENSG00000100528	ENSG00000100528			19431	protein-coding gene	gene with protein product		611287	"""cornichon homolog (Drosophila)"""	CNIH		10209299	Standard	NM_005776		Approved	TGAM77, CNIL	uc001xat.1	O95406	OTTHUMG00000152335	ENST00000216416.4:c.97G>A	14.37:g.54903140C>T	ENSP00000216416:p.Glu33Lys		Q3SYM7	Missense_Mutation	SNP	pfam_Cornichon	p.E33K	ENST00000216416.4	37	c.97	CCDS9717.1	14	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042213	0.75732	.	.	ENSG00000100528	ENST00000395573;ENST00000216416;ENST00000557690;ENST00000556113	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.84219	2.685	0.80722	D	1	P;P	0.45902	0.633;0.868	P;P	0.54544	0.507;0.755	T	0.72447	-0.4291	10	0.72032	D	0.01	-6.7671	19.661	0.95871	0.0:1.0:0.0:0.0	.	33;33	A8MVW4;O95406	.;CNIH_HUMAN	K	33	ENSP00000378940:E33K;ENSP00000216416:E33K;ENSP00000451852:E33K;ENSP00000451142:E33K	ENSP00000216416:E33K	E	-	1	0	CNIH	53972890	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.486000	0.81215	2.645000	0.89757	0.655000	0.94253	GAG	CNIH	-	pfam_Cornichon		0.294	CNIH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNIH	HGNC	protein_coding	OTTHUMT00000276896.2	C	NM_005776		54903140	-1	no_errors	ENST00000216416	ensembl	human	known	70_37	missense	SNP	1.000	T
CNOT10	25904	genome.wustl.edu	37	3	32776386	32776386	+	Missense_Mutation	SNP	G	G	C	rs369914627		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:32776386G>C	ENST00000328834.5	+	12	1748	c.1432G>C	c.(1432-1434)Gat>Cat	p.D478H	CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000454516.2_Missense_Mutation_p.D538H|CNOT10_ENST00000331889.6_Missense_Mutation_p.D478H|CNOT10_ENST00000538368.1_Missense_Mutation_p.D250H	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	478				D -> G (in Ref. 1; BAB14108). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D478H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AGAACAGCAAGATCCAAAGCA	0.443																																																	1	Substitution - Missense(1)	cervix(1)											166.0	167.0	167.0					3																	32776386		2203	4300	6503	SO:0001583	missense	25904			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1432G>C	3.37:g.32776386G>C	ENSP00000330060:p.Asp478His		B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat	p.D538H	ENST00000328834.5	37	c.1612	CCDS2655.1	3	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919240	0.52546	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	T;T;T;T	0.45668	1.42;1.43;0.89;1.42	5.76	4.85	0.62838	Tetratricopeptide-like helical (1);	0.130487	0.64402	D	0.000001	T	0.55081	0.1898	L	0.54323	1.7	0.80722	D	1	D;D;P;P	0.62365	0.991;0.968;0.915;0.945	P;P;P;P	0.60345	0.873;0.747;0.647;0.564	T	0.47420	-0.9119	10	0.32370	T	0.25	-29.8219	16.226	0.82293	0.0:0.0:0.8667:0.1333	.	538;478;477;478	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	H	478;478;250;538;25	ENSP00000329376:D478H;ENSP00000330060:D478H;ENSP00000442552:D250H;ENSP00000399862:D538H	ENSP00000330060:D478H	D	+	1	0	CNOT10	32751390	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.602000	0.98312	2.725000	0.93324	0.655000	0.94253	GAT	CNOT10	-	NULL		0.443	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT10	HGNC	protein_coding	OTTHUMT00000253248.2	G	NM_015442		32776386	+1	no_errors	ENST00000454516	ensembl	human	known	70_37	missense	SNP	1.000	C
CNTNAP2	26047	genome.wustl.edu	37	7	147869395	147869395	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:147869395G>C	ENST00000361727.3	+	18	3351	c.2835G>C	c.(2833-2835)gtG>gtC	p.V945V	CNTNAP2_ENST00000538075.1_Silent_p.V4V	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	945	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.V945V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGAATGGGGTGACACTTGACC	0.547										HNSCC(39;0.1)																																							1	Substitution - coding silent(1)	cervix(1)											87.0	83.0	84.0					7																	147869395		2203	4300	6503	SO:0001819	synonymous_variant	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2835G>C	7.37:g.147869395G>C			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V945	ENST00000361727.3	37	c.2835	CCDS5889.1	7																																																																																			CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.547	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	G			147869395	+1	no_errors	ENST00000361727	ensembl	human	known	70_37	silent	SNP	1.000	C
CNTNAP5	129684	genome.wustl.edu	37	2	125281973	125281973	+	Missense_Mutation	SNP	C	C	A	rs528479875		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:125281973C>A	ENST00000431078.1	+	9	1782	c.1418C>A	c.(1417-1419)cCg>cAg	p.P473Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	473	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P473Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAGCACCCCCGGCTCCAGAC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											57.0	60.0	59.0					2																	125281973		1988	4195	6183	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1418C>A	2.37:g.125281973C>A	ENSP00000399013:p.Pro473Gln		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.P473Q	ENST00000431078.1	37	c.1418	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500186	0.26861	.	.	ENSG00000155052	ENST00000431078	T	0.80824	-1.42	5.95	3.23	0.37069	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.431347	0.19497	N	0.112837	T	0.79251	0.4414	N	0.25647	0.755	0.29628	N	0.845654	D	0.57571	0.98	P	0.62298	0.9	T	0.71672	-0.4522	10	0.27785	T	0.31	.	9.7473	0.40455	0.0:0.7818:0.0:0.2182	.	473	Q8WYK1	CNTP5_HUMAN	Q	473	ENSP00000399013:P473Q	ENSP00000399013:P473Q	P	+	2	0	CNTNAP5	124998443	0.734000	0.28142	0.151000	0.22473	0.004000	0.04260	2.370000	0.44240	0.432000	0.26286	0.655000	0.94253	CCG	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	C			125281973	+1	no_errors	ENST00000431078	ensembl	human	known	70_37	missense	SNP	0.423	A
COBLL1	22837	genome.wustl.edu	37	2	165578671	165578671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:165578671G>A	ENST00000392717.2	-	7	1028	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	COBLL1_ENST00000375458.2_Nonsense_Mutation_p.Q304*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.Q370*|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.Q342*|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.Q304*			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	342						extracellular vesicular exosome (GO:0070062)		p.Q304*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GGGACACTCTGAGATGCTGGC	0.512																																																	1	Substitution - Nonsense(1)	cervix(1)											70.0	73.0	72.0					2																	165578671		2203	4300	6503	SO:0001587	stop_gained	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1024C>T	2.37:g.165578671G>A	ENSP00000376478:p.Gln342*		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Nonsense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.Q370*	ENST00000392717.2	37	c.1108		2	.	.	.	.	.	.	.	.	.	.	G	34	5.296807	0.95574	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.17	5.25	0.73442	.	0.116668	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-4.8497	17.0967	0.86637	0.0:0.1264:0.8736:0.0	.	.	.	.	X	304;304;342;342;370	.	ENSP00000194871:Q370X	Q	-	1	0	COBLL1	165286917	1.000000	0.71417	0.982000	0.44146	0.069000	0.16628	6.172000	0.71932	2.941000	0.99782	0.655000	0.94253	CAG	COBLL1	-	pfam_Cordon-bleu_domain		0.512	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		G	NM_014900		165578671	-1	no_errors	ENST00000194871	ensembl	human	known	70_37	nonsense	SNP	1.000	A
COCH	1690	genome.wustl.edu	37	14	31358950	31358950	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:31358950G>C	ENST00000396618.3	+	12	1662	c.1606G>C	c.(1606-1608)Gat>Cat	p.D536H	RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.D536H|COCH_ENST00000460581.2_Missense_Mutation_p.D424H|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.D387H|COCH_ENST00000475087.1_Intron	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	536	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.D536H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AATTGTTTCTGATGTCATCAG	0.398																																																	1	Substitution - Missense(1)	cervix(1)											78.0	77.0	77.0					14																	31358950		2203	4300	6503	SO:0001583	missense	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1606G>C	14.37:g.31358950G>C	ENSP00000379862:p.Asp536His		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.D536H	ENST00000396618.3	37	c.1606	CCDS9640.1	14	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336209	0.60963	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000460581;ENST00000382493	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.09	4.2	0.49525	von Willebrand factor, type A (2);	0.342219	0.33631	N	0.004713	D	0.85509	0.5713	M	0.66939	2.045	0.39586	D	0.969519	D;P	0.71674	0.998;0.934	D;P	0.70935	0.971;0.694	D	0.86683	0.1918	10	0.52906	T	0.07	-12.259	13.6683	0.62409	0.075:0.0:0.925:0.0	.	387;536	E7EN67;O43405	.;COCH_HUMAN	H	536;536;424;387	ENSP00000216361:D536H;ENSP00000379862:D536H;ENSP00000451713:D424H;ENSP00000371933:D387H	ENSP00000216361:D536H	D	+	1	0	COCH	30428701	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	5.723000	0.68492	1.142000	0.42291	0.591000	0.81541	GAT	COCH	-	smart_VWF_A,pfscan_VWF_A		0.398	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	COCH	HGNC	protein_coding	OTTHUMT00000276608.1	G	NM_004086		31358950	+1	no_errors	ENST00000216361	ensembl	human	known	70_37	missense	SNP	0.969	C
RXRB	6257	genome.wustl.edu	37	6	33159972	33159972	+	IGR	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:33159972G>C	ENST00000374680.3	-	0	2908				COL11A2_ENST00000374714.1_Missense_Mutation_p.L16V|COL11A2_ENST00000374713.1_Missense_Mutation_p.L16V|COL11A2_ENST00000374708.4_Missense_Mutation_p.L16V|COL11A2_ENST00000357486.1_Missense_Mutation_p.L16V|COL11A2_ENST00000395197.1_Missense_Mutation_p.L16V|COL11A2_ENST00000374712.1_Missense_Mutation_p.L16V|COL11A2_ENST00000361917.1_Missense_Mutation_p.L16V|COL11A2_ENST00000341947.2_Missense_Mutation_p.L16V|COL11A2_ENST00000395194.1_Missense_Mutation_p.L16V	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta						cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L16V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCCAGCACCAGAGGTAGGAGG	0.677																																																	1	Substitution - Missense(1)	cervix(1)											9.0	7.0	8.0					6																	33159972		1476	2675	4151	SO:0001628	intergenic_variant	1302			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298		6.37:g.33159972G>C			P28703|Q59G65|Q5JP92|Q5STQ1	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.L16V	ENST00000374680.3	37	c.46	CCDS4768.1	6	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728488	0.69074	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	D;D;D;D;D;D;D;D;D;T	0.91521	-2.62;-2.52;-2.63;-2.62;-2.52;-2.52;-2.62;-2.53;-2.86;1.43	5.12	4.24	0.50183	.	0.102078	0.40144	U	0.001162	D	0.85792	0.5779	N	0.16266	0.395	0.28864	N	0.895352	D;D;D;P	0.71674	0.998;0.974;0.974;0.956	D;D;D;D	0.74674	0.984;0.953;0.953;0.931	T	0.80303	-0.1439	10	0.44086	T	0.13	.	10.0471	0.42192	0.0972:0.0:0.9028:0.0	.	16;16;16;16	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	V	16	ENSP00000363840:L16V;ENSP00000339915:L16V;ENSP00000350079:L16V;ENSP00000363846:L16V;ENSP00000363845:L16V;ENSP00000378623:L16V;ENSP00000363844:L16V;ENSP00000355123:L16V;ENSP00000405520:L16V;ENSP00000378620:L16V	ENSP00000339915:L16V	L	-	1	2	COL11A2	33267950	0.997000	0.39634	0.955000	0.39395	0.990000	0.78478	1.623000	0.37008	2.370000	0.80446	0.549000	0.68633	CTG	COL11A2	-	NULL		0.677	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076642.2	G	NM_021976		33159972	-1	no_errors	ENST00000341947	ensembl	human	known	70_37	missense	SNP	0.954	C
COL4A3	1285	genome.wustl.edu	37	2	228121064	228121064	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:228121064C>G	ENST00000396578.3	+	17	1101	c.939C>G	c.(937-939)gtC>gtG	p.V313V	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	313	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.V313V(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTAGGGAGTCAAGGGCAACA	0.443																																																	2	Substitution - coding silent(2)	cervix(2)											122.0	113.0	116.0					2																	228121064		1850	4094	5944	SO:0001819	synonymous_variant	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.939C>G	2.37:g.228121064C>G			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.V313	ENST00000396578.3	37	c.939	CCDS42829.1	2																																																																																			COL4A3	-	pfam_Collagen		0.443	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	C	NM_000091		228121064	+1	no_errors	ENST00000396578	ensembl	human	known	70_37	silent	SNP	1.000	G
COLEC12	81035	genome.wustl.edu	37	18	346882	346882	+	Missense_Mutation	SNP	A	A	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:346882A>G	ENST00000400256.3	-	5	947	c.740T>C	c.(739-741)gTt>gCt	p.V247A		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	247					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.V247A(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGAAGAAAAACCTGCTGCAG	0.517																																																	1	Substitution - Missense(1)	cervix(1)											102.0	94.0	97.0					18																	346882		2203	4300	6503	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.740T>C	18.37:g.346882A>G	ENSP00000383115:p.Val247Ala		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.V247A	ENST00000400256.3	37	c.740	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	A	12.99	2.103938	0.37145	.	.	ENSG00000158270	ENST00000400256	T	0.77229	-1.08	6.08	6.08	0.98989	.	0.212927	0.49916	D	0.000126	T	0.62221	0.2410	N	0.14661	0.345	0.41412	D	0.987744	B	0.18610	0.029	B	0.12837	0.008	T	0.59979	-0.7352	10	0.44086	T	0.13	-16.3447	10.9027	0.47062	0.9305:0.0:0.0695:0.0	.	247	Q5KU26	COL12_HUMAN	A	247	ENSP00000383115:V247A	ENSP00000383115:V247A	V	-	2	0	COLEC12	336882	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.872000	0.39549	2.333000	0.79357	0.533000	0.62120	GTT	COLEC12	-	NULL		0.517	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	A			346882	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	missense	SNP	1.000	G
COMP	1311	genome.wustl.edu	37	19	18896802	18896802	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:18896802G>A	ENST00000222271.2	-	13	1506	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	COMP_ENST00000425807.1_Missense_Mutation_p.P435S|COMP_ENST00000542601.2_Missense_Mutation_p.P455S	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	488					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.P488S(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCGGGGTTAGGCACCAGGCGG	0.721																																																	1	Substitution - Missense(1)	cervix(1)											37.0	30.0	32.0					19																	18896802		2203	4300	6503	SO:0001583	missense	1311			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1462C>T	19.37:g.18896802G>A	ENSP00000222271:p.Pro488Ser		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.P488S	ENST00000222271.2	37	c.1462	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050067	0.36181	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.98381	-4.9;-4.9;-4.9	4.05	1.77	0.24775	.	0.072118	0.56097	N	0.000023	D	0.97542	0.9195	L	0.58302	1.8	0.53688	D	0.999972	B;D	0.65815	0.07;0.995	B;P	0.60286	0.068;0.872	D	0.94911	0.8065	10	0.30078	T	0.28	-11.1032	7.4569	0.27272	0.0976:0.1691:0.7333:0.0	.	435;488	B4DKJ3;P49747	.;COMP_HUMAN	S	455;488;435;475	ENSP00000439156:P455S;ENSP00000222271:P488S;ENSP00000403792:P435S	ENSP00000222271:P488S	P	-	1	0	COMP	18757802	1.000000	0.71417	0.997000	0.53966	0.291000	0.27294	3.137000	0.50562	0.169000	0.19679	-0.339000	0.08088	CCT	COMP	-	NULL		0.721	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	G	NM_000095		18896802	-1	no_errors	ENST00000222271	ensembl	human	known	70_37	missense	SNP	1.000	A
CORO1B	57175	genome.wustl.edu	37	11	67208821	67208821	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:67208821G>A	ENST00000341356.5	-	5	729	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	CORO1B_ENST00000393893.1_Missense_Mutation_p.R207W|CORO1B_ENST00000453768.2_Missense_Mutation_p.R207W|CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000545016.1_3'UTR	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	207					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)	p.R207W(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGTGCCCCGACGGGGGTCG	0.622																																																	1	Substitution - Missense(1)	cervix(1)											118.0	102.0	107.0					11																	67208821		2200	4295	6495	SO:0001583	missense	57175			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.619C>T	11.37:g.67208821G>A	ENSP00000340211:p.Arg207Trp		B2RD45	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R207W	ENST00000341356.5	37	c.619	CCDS8164.1	11	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253463	0.39797	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768	T;T;T	0.29917	4.99;4.99;1.55	4.56	1.44	0.22558	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.35320	N	0.003287	T	0.30355	0.0762	N	0.14661	0.345	0.50632	D	0.999888	D;P	0.64830	0.994;0.932	P;P	0.57468	0.821;0.821	T	0.09751	-1.0660	10	0.87932	D	0	-24.8257	12.7138	0.57103	0.0:0.0:0.4259:0.5741	.	207;207	E7EW44;Q9BR76	.;COR1B_HUMAN	W	207;207;234;207	ENSP00000377471:R207W;ENSP00000340211:R207W;ENSP00000416006:R207W	ENSP00000340211:R207W	R	-	1	2	CORO1B	66965397	1.000000	0.71417	0.991000	0.47740	0.093000	0.18481	1.699000	0.37804	0.116000	0.18110	-0.169000	0.13324	CGG	CORO1B	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.622	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1B	HGNC	protein_coding	OTTHUMT00000396220.1	G	NM_020441		67208821	-1	no_errors	ENST00000341356	ensembl	human	known	70_37	missense	SNP	1.000	A
CORO6	84940	genome.wustl.edu	37	17	27943334	27943334	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:27943334C>G	ENST00000445145.2	-	8	1026	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T	CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000456796.3_Missense_Mutation_p.R108T|CORO6_ENST00000584969.1_Missense_Mutation_p.R342T|CORO6_ENST00000388767.3_Missense_Mutation_p.R342T|CORO6_ENST00000580212.1_Missense_Mutation_p.R302T|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000345068.5_Missense_Mutation_p.R342T			Q6QEF8	CORO6_HUMAN	coronin 6	342					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.R342T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TTCACACTTTCTTTCGTGTAG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											82.0	69.0	73.0					17																	27943334		2202	4299	6501	SO:0001583	missense	84940			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.1025G>C	17.37:g.27943334C>G	ENSP00000393624:p.Arg342Thr		B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R342T	ENST00000445145.2	37	c.1025		17	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920754	0.52653	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145;ENST00000456796	T;T;T	0.28255	1.62;1.62;1.62	5.29	5.29	0.74685	.	0.453272	0.24686	N	0.036432	T	0.48995	0.1531	L	0.39397	1.21	0.53688	D	0.999973	D;P	0.89917	1.0;0.491	D;B	0.74674	0.984;0.321	T	0.49560	-0.8927	10	0.87932	D	0	-1.0867	18.5558	0.91083	0.0:1.0:0.0:0.0	.	108;342	Q6QEF8-4;Q6QEF8-5	.;.	T	413;342;342;108	ENSP00000373419:R342T;ENSP00000393624:R342T;ENSP00000403019:R108T	ENSP00000344562:R413T	R	-	2	0	CORO6	24967460	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.825000	0.62708	2.460000	0.83146	0.655000	0.94253	AGA	CORO6	-	pfam_DUF1900		0.582	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	CORO6	HGNC	protein_coding	OTTHUMT00000447831.1	C	NM_032854		27943334	-1	no_errors	ENST00000345068	ensembl	human	known	70_37	missense	SNP	1.000	G
CORO7	79585	genome.wustl.edu	37	16	4412623	4412623	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:4412623C>G	ENST00000251166.4	-	15	1537	c.1392G>C	c.(1390-1392)caG>caC	p.Q464H	CORO7_ENST00000539968.1_Missense_Mutation_p.Q244H|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.Q464H|CORO7_ENST00000574025.1_Missense_Mutation_p.Q379H|CORO7_ENST00000537233.2_Missense_Mutation_p.Q446H|CORO7_ENST00000423908.2_Missense_Mutation_p.Q296H	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	464					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.Q464H(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCAGCAGGCTCTGCAGCGACC	0.672																																																	1	Substitution - Missense(1)	cervix(1)											61.0	57.0	59.0					16																	4412623		2197	4299	6496	SO:0001583	missense	100529144			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1392G>C	16.37:g.4412623C>G	ENSP00000251166:p.Gln464His		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q464H	ENST00000251166.4	37	c.1392	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319392	0.23994	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.67698	-0.28;-0.28;-0.28	5.07	-0.766	0.11020	.	0.350341	0.18912	U	0.127731	T	0.63117	0.2484	N	0.25890	0.77	0.28372	N	0.919948	P;D;B;D;B;B	0.71674	0.547;0.996;0.075;0.998;0.031;0.075	B;D;B;D;B;B	0.79784	0.245;0.986;0.042;0.993;0.014;0.042	T	0.55939	-0.8061	10	0.31617	T	0.26	-17.61	5.4047	0.16314	0.0:0.4049:0.2415:0.3536	.	379;446;244;244;464;445	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	H	464;379;244;296	ENSP00000251166:Q464H;ENSP00000446221:Q244H;ENSP00000391530:Q296H	ENSP00000251166:Q464H	Q	-	3	2	CORO7	4352624	0.916000	0.31088	0.990000	0.47175	0.336000	0.28762	-0.203000	0.09438	-0.098000	0.12285	0.555000	0.69702	CAG	CORO7-PAM16	-	NULL		0.672	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	C	NM_024535		4412623	-1	no_errors	ENST00000572467	ensembl	human	known	70_37	missense	SNP	0.990	G
CP	1356	genome.wustl.edu	37	3	148927989	148927989	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:148927989G>A	ENST00000264613.6	-	3	834	c.572C>T	c.(571-573)tCa>tTa	p.S191L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	191	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.S191L(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GATGAGTCCTGAGGCAATATC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											195.0	170.0	179.0					3																	148927989		2203	4300	6503	SO:0001583	missense	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.572C>T	3.37:g.148927989G>A	ENSP00000264613:p.Ser191Leu		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.S191L	ENST00000264613.6	37	c.572	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.478782	0.96291	.	.	ENSG00000047457	ENST00000264613	D	0.99014	-5.33	5.8	5.8	0.92144	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99143	0.9704	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99877	1.1106	10	0.54805	T	0.06	-9.1475	20.0465	0.97608	0.0:0.0:1.0:0.0	.	191;191	A8K5A4;P00450	.;CERU_HUMAN	L	191	ENSP00000264613:S191L	ENSP00000264613:S191L	S	-	2	0	CP	150410679	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.230000	0.95299	2.735000	0.93741	0.557000	0.71058	TCA	CP	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.423	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	G	NM_000096		148927989	-1	no_errors	ENST00000264613	ensembl	human	known	70_37	missense	SNP	1.000	A
CPEB2	132864	genome.wustl.edu	37	4	15009019	15009019	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:15009019C>T	ENST00000507071.1	+	2	529	c.442C>T	c.(442-444)Cat>Tat	p.H148Y	CPEB2_ENST00000345451.3_Missense_Mutation_p.H148Y|CPEB2_ENST00000382395.3_Missense_Mutation_p.H148Y|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000442003.2_Missense_Mutation_p.H585Y|CPEB2_ENST00000538197.1_Missense_Mutation_p.H585Y|CPEB2_ENST00000259997.5_Missense_Mutation_p.H148Y|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000541112.1_Missense_Mutation_p.H585Y|CPEB2_ENST00000382401.3_Missense_Mutation_p.H148Y			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	148					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)	p.H148Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TGGCAGAGATCATCGTAGAAC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											96.0	84.0	88.0					4																	15009019		2203	4300	6503	SO:0001583	missense	132864			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.442C>T	4.37:g.15009019C>T	ENSP00000424084:p.His148Tyr		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H585Y	ENST00000507071.1	37	c.1753		4	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543594	0.65198	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391	T;T;T;T;T;T;T;T	0.46451	0.89;0.89;0.87;0.95;0.88;0.88;0.89;0.92	5.33	5.33	0.75918	.	0.099859	0.64402	D	0.000001	T	0.52108	0.1714	N	0.26042	0.785	0.80722	D	1	D;D;B;B;D;P	0.53745	0.962;0.962;0.112;0.033;0.962;0.949	D;D;B;B;D;D	0.66716	0.946;0.946;0.034;0.051;0.946;0.914	T	0.48547	-0.9026	10	0.40728	T	0.16	-19.4042	18.372	0.90409	0.0:1.0:0.0:0.0	.	148;148;585;585;148;148	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	Y	585;585;585;148;148;148;148;148;127	ENSP00000443985:H585Y;ENSP00000437884:H585Y;ENSP00000414270:H585Y;ENSP00000424084:H148Y;ENSP00000334058:H148Y;ENSP00000371832:H148Y;ENSP00000371838:H148Y;ENSP00000259997:H148Y	ENSP00000259997:H148Y	H	+	1	0	CPEB2	14618117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.382000	0.79729	2.644000	0.89710	0.655000	0.94253	CAT	CPEB2	-	NULL		0.478	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	CPEB2	HGNC	protein_coding	OTTHUMT00000207349.2	C	XM_059607		15009019	+1	no_errors	ENST00000538197	ensembl	human	known	70_37	missense	SNP	1.000	T
CPEB4	80315	genome.wustl.edu	37	5	173383211	173383211	+	3'UTR	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:173383211C>T	ENST00000265085.5	+	0	3715				CPEB4_ENST00000334035.5_3'UTR|CPEB4_ENST00000522336.1_3'UTR|CPEB4_ENST00000517880.1_3'UTR|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000520867.1_3'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4						cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCCCTTCCTCAACCTCTTCA	0.403																																																	0																																										SO:0001624	3_prime_UTR_variant	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.*71C>T	5.37:g.173383211C>T			B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	RNA	SNP	-	NULL	ENST00000265085.5	37	NULL	CCDS4390.1	5																																																																																			CPEB4	-	-		0.403	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2	C	NM_030627		173383211	+1	no_errors	ENST00000519467	ensembl	human	known	70_37	rna	SNP	0.366	T
CPN1	1369	genome.wustl.edu	37	10	101808556	101808556	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:101808556C>G	ENST00000370418.3	-	8	1440	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	397					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E397Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTTACTGTCTCTGGGTCATAC	0.488																																																	1	Substitution - Missense(1)	cervix(1)											171.0	135.0	148.0					10																	101808556		2203	4300	6503	SO:0001583	missense	1369			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1189G>C	10.37:g.101808556C>G	ENSP00000359446:p.Glu397Gln		B1AP59	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.E397Q	ENST00000370418.3	37	c.1189	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	C	0.929	-0.713276	0.03206	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.40476	2.66;1.03	5.5	-3.75	0.04372	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.639352	0.16862	N	0.196487	T	0.13329	0.0323	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29852	-0.9998	10	0.12103	T	0.63	-18.3339	10.6349	0.45558	0.0:0.1704:0.5921:0.2375	.	397	P15169	CBPN_HUMAN	Q	397;194	ENSP00000359446:E397Q;ENSP00000410895:E194Q	ENSP00000359446:E397Q	E	-	1	0	CPN1	101798546	0.000000	0.05858	0.081000	0.20488	0.068000	0.16541	-0.403000	0.07214	-1.161000	0.02800	-0.162000	0.13425	GAG	CPN1	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14		0.488	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	HGNC	protein_coding	OTTHUMT00000049828.1	C	NM_001308		101808556	-1	no_errors	ENST00000370418	ensembl	human	known	70_37	missense	SNP	0.002	G
CPNE3	8895	genome.wustl.edu	37	8	87552517	87552517	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:87552517C>G	ENST00000521271.1	+	8	750	c.588C>G	c.(586-588)atC>atG	p.I196M	CPNE3_ENST00000198765.4_Missense_Mutation_p.I196M	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	196	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)	p.I196M(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTTCAAGATCTCTCTTAACT	0.299																																																	1	Substitution - Missense(1)	cervix(1)											85.0	96.0	92.0					8																	87552517		2203	4300	6503	SO:0001583	missense	8895			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.588C>G	8.37:g.87552517C>G	ENSP00000430934:p.Ile196Met		A8KA47|Q8IYA1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.I196M	ENST00000521271.1	37	c.588	CCDS6243.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.939003|1.939003	0.34189|0.34189	.|.	.|.	ENSG00000085719|ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072|ENST00000517391	T;T;T|.	0.69435|.	-0.4;-0.4;-0.4|.	5.65|5.65	2.35|2.35	0.29111|0.29111	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60534|0.60534	0.2276|0.2276	M|M	0.64997|0.64997	1.995|1.995	0.53005|0.53005	D|D	0.999964|0.999964	D|.	0.57257|.	0.979|.	D|.	0.67725|.	0.953|.	T|T	0.56171|0.56171	-0.8023|-0.8023	10|5	0.87932|.	D|.	0|.	-21.1327|-21.1327	7.8939|7.8939	0.29695|0.29695	0.1253:0.6713:0.0:0.2033|0.1253:0.6713:0.0:0.2033	.|.	196|.	O75131|.	CPNE3_HUMAN|.	M|C	196|85	ENSP00000198765:I196M;ENSP00000430934:I196M;ENSP00000427791:I196M|.	ENSP00000198765:I196M|.	I|S	+|+	3|2	3|0	CPNE3|CPNE3	87621633|87621633	0.939000|0.939000	0.31865|0.31865	1.000000|1.000000	0.80357|0.80357	0.308000|0.308000	0.27856|0.27856	0.057000|0.057000	0.14279|0.14279	0.682000|0.682000	0.31407|0.31407	-0.218000|-0.218000	0.12543|0.12543	ATC|TCT	CPNE3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.299	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE3	HGNC	protein_coding	OTTHUMT00000374994.1	C			87552517	+1	no_errors	ENST00000198765	ensembl	human	known	70_37	missense	SNP	1.000	G
CPNE3	8895	genome.wustl.edu	37	8	87559984	87559984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:87559984C>T	ENST00000521271.1	+	11	1027	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q289*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	289					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GGGAGGATGTCAGCTGAATTT	0.323																																																	0													86.0	71.0	76.0					8																	87559984		2202	4300	6502	SO:0001587	stop_gained	8895			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.865C>T	8.37:g.87559984C>T	ENSP00000430934:p.Gln289*		A8KA47|Q8IYA1	Nonsense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.Q289*	ENST00000521271.1	37	c.865	CCDS6243.1	8	.	.	.	.	.	.	.	.	.	.	C	38	7.112453	0.98070	.	.	ENSG00000085719	ENST00000198765;ENST00000521271	.	.	.	5.95	5.95	0.96441	.	0.177160	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.3405	20.3886	0.98946	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000198765:Q289X	Q	+	1	0	CPNE3	87629100	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.738000	0.84966	2.824000	0.97209	0.655000	0.94253	CAG	CPNE3	-	smart_VWF_A		0.323	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE3	HGNC	protein_coding	OTTHUMT00000374994.1	C			87559984	+1	no_errors	ENST00000198765	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CPPED1	55313	genome.wustl.edu	37	16	12798556	12798556	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:12798556C>T	ENST00000381774.4	-	3	880	c.640G>A	c.(640-642)Gac>Aac	p.D214N	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	214	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.D214N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TCGTCCTCGTCGATGCTCTCC	0.602																																																	1	Substitution - Missense(1)	cervix(1)											94.0	96.0	95.0					16																	12798556		2126	4256	6382	SO:0001583	missense	55313			AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.640G>A	16.37:g.12798556C>T	ENSP00000371193:p.Asp214Asn		B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.D214N	ENST00000381774.4	37	c.640	CCDS42120.1	16	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457002	0.26161	.	.	ENSG00000103381	ENST00000381774	T	0.70869	-0.52	5.32	4.36	0.52297	Metallophosphoesterase domain (1);	0.386702	0.32273	N	0.006330	T	0.63141	0.2486	L	0.48877	1.53	0.58432	D	0.999993	B	0.25312	0.123	B	0.24701	0.055	T	0.62872	-0.6762	10	0.45353	T	0.12	-15.2397	12.1231	0.53903	0.0:0.9144:0.0:0.0856	.	214	Q9BRF8	CPPED_HUMAN	N	214	ENSP00000371193:D214N	ENSP00000371193:D214N	D	-	1	0	CPPED1	12706057	0.953000	0.32496	0.021000	0.16686	0.006000	0.05464	3.000000	0.49481	2.486000	0.83907	0.650000	0.86243	GAC	CPPED1	-	pfam_Metallo_PEstase_dom		0.602	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPPED1	HGNC	protein_coding	OTTHUMT00000395795.2	C	NM_018340		12798556	-1	no_errors	ENST00000381774	ensembl	human	known	70_37	missense	SNP	0.235	T
CPZ	8532	genome.wustl.edu	37	4	8609103	8609103	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:8609103C>G	ENST00000360986.4	+	7	1352	c.1178C>G	c.(1177-1179)tCc>tGc	p.S393C	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.S382C|CPZ_ENST00000382480.2_Missense_Mutation_p.S256C	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	393					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S393C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCGACTTCTCCAAGCACCCC	0.597											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											121.0	103.0	109.0					4																	8609103		2203	4300	6503	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1178C>G	4.37:g.8609103C>G	ENSP00000354255:p.Ser393Cys	650	O00520|Q96MX2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14	p.S393C	ENST00000360986.4	37	c.1178	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	c	24.3	4.512995	0.85389	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.03831	3.79;3.79;3.79	3.98	3.98	0.46160	Peptidase M14, carboxypeptidase A (2);	0.295288	0.34223	N	0.004147	T	0.22898	0.0553	M	0.82630	2.6	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68621	0.956;0.959	T	0.08006	-1.0743	10	0.87932	D	0	-26.5248	16.154	0.81644	0.0:1.0:0.0:0.0	.	382;393	Q66K79-2;Q66K79	.;CBPZ_HUMAN	C	393;256;382	ENSP00000354255:S393C;ENSP00000371920:S256C;ENSP00000315074:S382C	ENSP00000315074:S382C	S	+	2	0	CPZ	8660003	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.684000	0.74538	1.783000	0.52377	0.444000	0.29173	TCC	CPZ	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.597	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	C	NM_003652		8609103	+1	no_errors	ENST00000360986	ensembl	human	known	70_37	missense	SNP	1.000	G
CRAT	1384	genome.wustl.edu	37	9	131869987	131869987	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:131869987C>T	ENST00000318080.2	-	2	586				AL158151.2_ENST00000408594.1_RNA|CRAT_ENST00000393384.3_Missense_Mutation_p.E133K|CRAT_ENST00000464290.1_Intron	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase						carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	agtatgtgctcacgaaaCTCT	0.562																																																	0																																										SO:0001627	intron_variant	1384			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.291+105G>A	9.37:g.131869987C>T			Q5T952|Q9BW16	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.E133K	ENST00000318080.2	37	c.397	CCDS6919.1	9	.	.	.	.	.	.	.	.	.	.	c	10.03	1.238987	0.22711	.	.	ENSG00000095321	ENST00000393384	D	0.90444	-2.67	2.78	-1.4	0.08968	.	.	.	.	.	D	0.85168	0.5635	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.74417	-0.3672	6	0.38643	T	0.18	.	5.5105	0.16878	0.0:0.4984:0.3063:0.1953	.	.	.	.	K	133	ENSP00000377045:E133K	ENSP00000377045:E133K	E	-	1	0	CRAT	130909808	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.065000	0.11617	-0.329000	0.08527	-0.313000	0.08912	GAG	CRAT	-	NULL		0.562	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1	C			131869987	-1	no_errors	ENST00000393384	ensembl	human	putative	70_37	missense	SNP	0.001	T
CRB1	23418	genome.wustl.edu	37	1	197396583	197396583	+	Splice_Site	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:197396583G>C	ENST00000367400.3	+	7	2263		c.e7-1		CRB1_ENST00000543483.1_Splice_Site|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Splice_Site	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated						cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGACATTGAAGAGTATGTGGC	0.413																																																	2	Unknown(2)	cervix(1)|lung(1)											59.0	55.0	56.0					1																	197396583		2203	4300	6503	SO:0001630	splice_region_variant	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2129-1G>C	1.37:g.197396583G>C			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	-	e7-1	ENST00000367400.3	37	c.2129-1	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815261	0.32053	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRB1	195663206	1.000000	0.71417	0.658000	0.29665	0.069000	0.16628	9.043000	0.93799	2.701000	0.92244	0.650000	0.86243	.	CRB1	-	-		0.413	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	G	NM_201253	Intron	197396583	+1	no_errors	ENST00000367400	ensembl	human	known	70_37	splice_site	SNP	1.000	C
CRB2	286204	genome.wustl.edu	37	9	126125380	126125380	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:126125380G>C	ENST00000373631.3	+	2	332	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	CRB2_ENST00000359999.3_Missense_Mutation_p.E111Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	111	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	p.E111Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGACATCGATGAGTGTGCATC	0.672																																																	1	Substitution - Missense(1)	cervix(1)											38.0	34.0	35.0					9																	126125380		2202	4299	6501	SO:0001583	missense	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.331G>C	9.37:g.126125380G>C	ENSP00000362734:p.Glu111Gln		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_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.E111Q	ENST00000373631.3	37	c.331	CCDS6852.2	9	.	.	.	.	.	.	.	.	.	.	G	34	5.409412	0.96072	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.93547	-3.24;-3.24	4.98	4.98	0.66077	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.43579	D	0.000545	D	0.96414	0.8830	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.96644	0.9476	10	0.66056	D	0.02	.	17.1717	0.86832	0.0:0.0:1.0:0.0	.	111;111	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	Q	111	ENSP00000353092:E111Q;ENSP00000362734:E111Q	ENSP00000353092:E111Q	E	+	1	0	CRB2	125165201	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.418000	0.97395	2.602000	0.87976	0.549000	0.68633	GAG	CRB2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.672	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB2	HGNC	protein_coding	OTTHUMT00000053990.3	G	NM_173689		126125380	+1	no_errors	ENST00000373631	ensembl	human	known	70_37	missense	SNP	1.000	C
CREBBP	1387	genome.wustl.edu	37	16	3900459	3900459	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:3900459G>A	ENST00000262367.5	-	2	1446	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	CREBBP_ENST00000382070.3_Missense_Mutation_p.L213F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	213					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L213F(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAGCCCCAAGAGATCCATTC	0.562			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	cervix(1)											96.0	91.0	93.0					16																	3900459		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.637C>T	16.37:g.3900459G>A	ENSP00000262367:p.Leu213Phe		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.L213F	ENST00000262367.5	37	c.637	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699941	0.48307	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84730	-1.89;-1.88	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000005	D	0.87553	0.6206	L	0.38175	1.15	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.64687	0.92;0.928	D	0.87042	0.2141	10	0.51188	T	0.08	-21.726	13.6832	0.62499	0.0701:0.0:0.9299:0.0	.	281;213	Q4LE28;Q92793	.;CBP_HUMAN	F	213;281;213	ENSP00000262367:L213F;ENSP00000371502:L213F	ENSP00000262367:L213F	L	-	1	0	CREBBP	3840460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.352000	0.52239	2.861000	0.98227	0.650000	0.86243	CTT	CREBBP	-	NULL		0.562	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3900459	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	A
CREBZF	58487	genome.wustl.edu	37	11	85375024	85375024	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:85375024G>C	ENST00000527447.1	-	1	1122	c.896C>G	c.(895-897)tCg>tGg	p.S299W	CREBZF_ENST00000398294.2_Missense_Mutation_p.S217W|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	299					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S299W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				ACCGGCGGGCGAGTCTCTGAA	0.642											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)												1	Substitution - Missense(1)	cervix(1)											40.0	45.0	44.0					11																	85375024		1995	4165	6160	SO:0001583	missense	58487			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.896C>G	11.37:g.85375024G>C	ENSP00000433459:p.Ser299Trp	1236	B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	pfam_bZIP	p.S299W	ENST00000527447.1	37	c.896	CCDS41697.1	11	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080801	0.55753	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	5.22	5.22	0.72569	.	0.140700	0.30584	N	0.009314	T	0.51466	0.1676	L	0.46157	1.445	0.54753	D	0.999987	D	0.57257	0.979	P	0.48795	0.59	T	0.47355	-0.9124	8	.	.	.	-39.6706	11.7341	0.51755	0.0839:0.0:0.9161:0.0	.	299	Q9NS37	ZHANG_HUMAN	W	217;299	.	.	S	-	2	0	CREBZF	85052672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.130000	0.31393	2.715000	0.92844	0.655000	0.94253	TCG	CREBZF	-	NULL		0.642	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBZF	HGNC	protein_coding	OTTHUMT00000390191.2	G	NM_001039618		85375024	-1	no_errors	ENST00000525639	ensembl	human	known	70_37	missense	SNP	1.000	C
CRMP1	1400	genome.wustl.edu	37	4	5858007	5858007	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:5858007G>C	ENST00000397890.2	-	4	555	c.341C>G	c.(340-342)tCc>tGc	p.S114C	CRMP1_ENST00000512574.1_Missense_Mutation_p.S112C|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.S228C	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	114					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.S228C(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CAGTAGGCTGGACCCAGGTTC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											105.0	88.0	94.0					4																	5858007		2203	4300	6503	SO:0001583	missense	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.341C>G	4.37:g.5858007G>C	ENSP00000380987:p.Ser114Cys		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.S228C	ENST00000397890.2	37	c.683	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	g	9.952	1.220394	0.22457	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90504	-2.68;-2.68;-2.68	3.12	3.12	0.35913	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.566199	0.17541	N	0.170538	D	0.87779	0.6263	N	0.20685	0.6	0.27755	N	0.944033	B;B;B;P	0.45396	0.002;0.003;0.001;0.857	B;B;B;P	0.51229	0.019;0.008;0.008;0.663	T	0.82468	-0.0442	10	0.52906	T	0.07	-30.4213	13.4227	0.61007	0.0:0.0:1.0:0.0	.	228;112;114;51	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	C	228;114;114;112	ENSP00000321606:S228C;ENSP00000380987:S114C;ENSP00000425742:S112C	ENSP00000321606:S228C	S	-	2	0	CRMP1	5908908	0.006000	0.16342	1.000000	0.80357	0.977000	0.68977	0.613000	0.24299	1.589000	0.49982	0.632000	0.83419	TCC	CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.498	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	G	NM_001313		5858007	-1	no_errors	ENST00000324989	ensembl	human	known	70_37	missense	SNP	0.769	C
CRMP1	1400	genome.wustl.edu	37	4	5862760	5862760	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:5862760C>G	ENST00000397890.2	-	3	520	c.306G>C	c.(304-306)acG>acC	p.T102T	CRMP1_ENST00000512574.1_Silent_p.T100T|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Silent_p.T216T	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	102					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.T216T(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CACTGATCATCGTGGTCCCGC	0.577																																																	1	Substitution - coding silent(1)	cervix(1)											85.0	77.0	80.0					4																	5862760		2203	4300	6503	SO:0001819	synonymous_variant	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.306G>C	4.37:g.5862760C>G			A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.T216	ENST00000397890.2	37	c.648	CCDS43207.1	4																																																																																			CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.577	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	C	NM_001313		5862760	-1	no_errors	ENST00000324989	ensembl	human	known	70_37	silent	SNP	0.993	G
CRNKL1	51340	genome.wustl.edu	37	20	20024178	20024178	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:20024178G>C	ENST00000377340.2	-	8	1444	c.1413C>G	c.(1411-1413)atC>atG	p.I471M	CRNKL1_ENST00000536226.1_Missense_Mutation_p.I310M|CRNKL1_ENST00000377327.4_Missense_Mutation_p.I459M	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	471	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I471M(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGCTCACAATGATATCTTCAA	0.418																																																	1	Substitution - Missense(1)	cervix(1)											185.0	165.0	172.0					20																	20024178		2203	4300	6503	SO:0001583	missense	51340			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1413C>G	20.37:g.20024178G>C	ENSP00000366557:p.Ile471Met		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.I471M	ENST00000377340.2	37	c.1413	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165290	0.38217	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.34072	1.38;1.38;1.38	6.07	6.07	0.98685	.	0.093177	0.64402	D	0.000001	T	0.22399	0.0540	N	0.24115	0.695	0.46901	D	0.999248	B	0.32051	0.354	B	0.25987	0.065	T	0.07121	-1.0789	10	0.72032	D	0.01	-18.9258	7.4272	0.27107	0.1339:0.0:0.7246:0.1414	.	471	Q9BZJ0	CRNL1_HUMAN	M	459;471;310	ENSP00000366544:I459M;ENSP00000366557:I471M;ENSP00000440733:I310M	ENSP00000366544:I459M	I	-	3	3	CRNKL1	19972178	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.731000	0.47343	2.884000	0.98904	0.655000	0.94253	ATC	CRNKL1	-	NULL		0.418	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	G			20024178	-1	no_errors	ENST00000377340	ensembl	human	known	70_37	missense	SNP	1.000	C
CRNN	49860	genome.wustl.edu	37	1	152382129	152382129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:152382129C>A	ENST00000271835.3	-	3	1491	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	477					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.E477*(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCGCTTCTCTTCTGACTGG	0.537																																																	1	Substitution - Nonsense(1)	cervix(1)											174.0	134.0	148.0					1																	152382129		2203	4300	6503	SO:0001587	stop_gained	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1429G>T	1.37:g.152382129C>A	ENSP00000271835:p.Glu477*		B2RE60|Q8N613	Nonsense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E477*	ENST00000271835.3	37	c.1429	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735140	0.69189	.	.	ENSG00000143536	ENST00000271835	.	.	.	4.92	2.84	0.33178	.	0.477525	0.17870	N	0.159205	.	.	.	.	.	.	0.35451	D	0.795681	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	6.9504	0.24542	0.0:0.8108:0.0:0.1892	.	.	.	.	X	477	.	ENSP00000271835:E477X	E	-	1	0	CRNN	150648753	0.004000	0.15560	0.001000	0.08648	0.040000	0.13550	0.699000	0.25586	0.441000	0.26529	0.650000	0.86243	GAG	CRNN	-	NULL		0.537	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	HGNC	protein_coding	OTTHUMT00000034503.1	C	NM_016190		152382129	-1	no_errors	ENST00000271835	ensembl	human	known	70_37	nonsense	SNP	0.002	A
CRTC1	23373	genome.wustl.edu	37	19	18879564	18879564	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:18879564G>C	ENST00000321949.8	+	10	1307	c.1281G>C	c.(1279-1281)gaG>gaC	p.E427D	CRTC1_ENST00000594658.1_Missense_Mutation_p.E386D|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000338797.6_Missense_Mutation_p.E443D	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.E443D(1)|p.E427D(1)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCCCCCCAGAGAACCCTGGCC	0.701																																																	2	Substitution - Missense(2)	cervix(2)											17.0	17.0	17.0					19																	18879564		2197	4294	6491	SO:0001583	missense	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1281G>C	19.37:g.18879564G>C	ENSP00000323332:p.Glu427Asp			Missense_Mutation	SNP	NULL	p.E443D	ENST00000321949.8	37	c.1329	CCDS32963.1	19	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280969	0.23392	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.17370	2.28;2.28	4.04	-3.61	0.04556	.	1.118960	0.06600	N	0.753588	T	0.07638	0.0192	N	0.08118	0	0.30207	N	0.798055	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.46610	-0.9179	10	0.12766	T	0.61	-7.2866	10.3906	0.44166	0.1574:0.6701:0.1725:0.0	.	427;443;427	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	D	427;443;427	ENSP00000345001:E443D;ENSP00000323332:E427D	ENSP00000262813:E427D	E	+	3	2	CRTC1	18740564	0.772000	0.28567	0.904000	0.35570	0.960000	0.62799	-0.040000	0.12104	-0.060000	0.13132	0.491000	0.48974	GAG	CRTC1	-	NULL		0.701	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	G	NM_025021		18879564	+1	no_errors	ENST00000338797	ensembl	human	known	70_37	missense	SNP	0.968	C
CRTC2	200186	genome.wustl.edu	37	1	153930904	153930904	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:153930904C>T	ENST00000368633.1	-	1	197	c.70G>A	c.(70-72)Gag>Aag	p.E24K	CRTC2_ENST00000368630.3_Missense_Mutation_p.E24K|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	24					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.E24K(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAATCTTCTCACTAAATTTG	0.677																																																	1	Substitution - Missense(1)	cervix(1)											24.0	26.0	25.0					1																	153930904		2203	4299	6502	SO:0001583	missense	200186			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.70G>A	1.37:g.153930904C>T	ENSP00000357622:p.Glu24Lys		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	NULL	p.E24K	ENST00000368633.1	37	c.70	CCDS30875.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.425957	0.97559	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.26518	1.73;1.73	5.98	5.98	0.97165	Transducer of regulated CREB activity, N-terminal (1);	0.138523	0.47093	D	0.000241	T	0.48926	0.1527	M	0.80183	2.485	0.46458	D	0.999051	D	0.76494	0.999	D	0.81914	0.995	T	0.50406	-0.8832	10	0.87932	D	0	-13.9002	17.9305	0.88996	0.0:1.0:0.0:0.0	.	24	Q53ET0	CRTC2_HUMAN	K	24	ENSP00000357619:E24K;ENSP00000357622:E24K	ENSP00000305873:E24K	E	-	1	0	CRTC2	152197528	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.544000	0.73878	2.837000	0.97791	0.591000	0.81541	GAG	CRTC2	-	NULL		0.677	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	HGNC	protein_coding	OTTHUMT00000090272.3	C	NM_181715		153930904	-1	no_errors	ENST00000368633	ensembl	human	known	70_37	missense	SNP	1.000	T
CRY1	1407	genome.wustl.edu	37	12	107391157	107391157	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:107391157C>G	ENST00000008527.5	-	10	2367	c.1500G>C	c.(1498-1500)ctG>ctC	p.L500L		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	500					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.L500L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GTACTGATGCCAGAAGACCTA	0.353																																																	1	Substitution - coding silent(1)	cervix(1)											117.0	122.0	120.0					12																	107391157		2203	4300	6503	SO:0001819	synonymous_variant	1407			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1500G>C	12.37:g.107391157C>G				Silent	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.L500	ENST00000008527.5	37	c.1500	CCDS9112.1	12																																																																																			CRY1	-	NULL		0.353	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRY1	HGNC	protein_coding	OTTHUMT00000406827.1	C	NM_004075		107391157	-1	no_errors	ENST00000008527	ensembl	human	known	70_37	silent	SNP	1.000	G
CRYBG3	131544	genome.wustl.edu	37	3	97596225	97596225	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:97596225G>C	ENST00000182096.4	+	1	407	c.343G>C	c.(343-345)Gat>Cat	p.D115H		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2063							carbohydrate binding (GO:0030246)	p.D115H(1)|p.D115Y(1)|p.D115N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGAGACATTTGATAGTGATAG	0.413																																																	3	Substitution - Missense(3)	cervix(1)|large_intestine(1)|lung(1)											82.0	80.0	80.0					3																	97596225		1905	4111	6016	SO:0001583	missense	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.343G>C	3.37:g.97596225G>C	ENSP00000182096:p.Asp115His		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.D115H	ENST00000182096.4	37	c.343		3	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555468	0.65425	.	.	ENSG00000080200	ENST00000182096	T	0.76839	-1.05	5.68	5.68	0.88126	.	0.332812	0.26553	N	0.023732	T	0.73560	0.3602	L	0.27053	0.805	0.80722	D	1	P	0.47409	0.895	P	0.45946	0.498	T	0.77362	-0.2616	10	0.72032	D	0.01	.	17.9746	0.89123	0.0:0.0:1.0:0.0	.	115	Q68DQ2	CRBG3_HUMAN	H	115	ENSP00000182096:D115H	ENSP00000182096:D115H	D	+	1	0	CRYBG3	99078915	0.999000	0.42202	0.376000	0.26042	0.993000	0.82548	5.928000	0.70088	2.695000	0.91970	0.650000	0.86243	GAT	CRYBG3	-	NULL		0.413	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	G	NM_153605		97596225	+1	no_errors	ENST00000182096	ensembl	human	known	70_37	missense	SNP	0.906	C
CRYGB	1419	genome.wustl.edu	37	2	209007482	209007482	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:209007482C>T	ENST00000260988.4	-	3	455	c.408G>A	c.(406-408)gaG>gaA	p.E136E		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	136	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.E136E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGTTGGGCATCTCATAGAGGA	0.542																																																	1	Substitution - coding silent(1)	cervix(1)											106.0	105.0	106.0					2																	209007482		2203	4300	6503	SO:0001819	synonymous_variant	1419				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.408G>A	2.37:g.209007482C>T			Q17RB5|Q53ST2	Silent	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E136	ENST00000260988.4	37	c.408	CCDS2380.1	2																																																																																			CRYGB	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.542	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGB	HGNC	protein_coding	OTTHUMT00000256473.2	C	NM_005210		209007482	-1	no_errors	ENST00000260988	ensembl	human	known	70_37	silent	SNP	1.000	T
CSE1L	1434	genome.wustl.edu	37	20	47691354	47691354	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:47691354G>C	ENST00000262982.2	+	11	1222	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	CSE1L_ENST00000542325.1_Missense_Mutation_p.E150Q|CSE1L_ENST00000396192.3_Missense_Mutation_p.E311Q	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	367					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.E367Q(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGATAATTCTGAGGAGTACAT	0.388																																																	1	Substitution - Missense(1)	cervix(1)											183.0	167.0	173.0					20																	47691354		2203	4300	6503	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1099G>C	20.37:g.47691354G>C	ENSP00000262982:p.Glu367Gln		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E367Q	ENST00000262982.2	37	c.1099	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.116571	0.94385	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.70399	-0.48;-0.48;-0.48	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.81959	0.4933	M	0.64997	1.995	0.80722	D	1	D;D;P;D;D	0.89917	0.982;1.0;0.489;0.991;1.0	P;D;P;D;D	0.85130	0.793;0.997;0.474;0.965;0.997	T	0.78568	-0.2154	10	0.28530	T	0.3	-15.3025	17.6733	0.88224	0.0:0.0:1.0:0.0	.	56;150;311;311;367	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	Q	367;150;311	ENSP00000262982:E367Q;ENSP00000446477:E150Q;ENSP00000379495:E311Q	ENSP00000262982:E367Q	E	+	1	0	CSE1L	47124761	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.326000	0.96389	2.622000	0.88805	0.655000	0.94253	GAG	CSE1L	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold		0.388	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	G	NM_001316		47691354	+1	no_errors	ENST00000262982	ensembl	human	known	70_37	missense	SNP	1.000	C
CSPG4	1464	genome.wustl.edu	37	15	75980337	75980337	+	Silent	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:75980337G>T	ENST00000308508.5	-	3	3161	c.3069C>A	c.(3067-3069)atC>atA	p.I1023I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1023	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.I1023I(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGATCCGGCTGATGGTCTGCA	0.662																																																	1	Substitution - coding silent(1)	cervix(1)											39.0	44.0	43.0					15																	75980337		2197	4292	6489	SO:0001819	synonymous_variant	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3069C>A	15.37:g.75980337G>T			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.I1023	ENST00000308508.5	37	c.3069	CCDS10284.1	15																																																																																			CSPG4	-	NULL		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	G	NM_001897		75980337	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	silent	SNP	0.995	T
CSPG4	1464	genome.wustl.edu	37	15	75981898	75981898	+	Missense_Mutation	SNP	T	T	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:75981898T>A	ENST00000308508.5	-	3	1600	c.1508A>T	c.(1507-1509)aAg>aTg	p.K503M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	503	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.K503M(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAGCGGGCCTTGCGGTTCAC	0.652																																																	1	Substitution - Missense(1)	cervix(1)											47.0	44.0	45.0					15																	75981898		2187	4278	6465	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1508A>T	15.37:g.75981898T>A	ENSP00000312506:p.Lys503Met		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.K503M	ENST00000308508.5	37	c.1508	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	18.38	3.610773	0.66558	.	.	ENSG00000173546	ENST00000308508	T	0.56275	0.47	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000003	T	0.71392	0.3334	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74685	-0.3582	10	0.59425	D	0.04	.	13.7393	0.62838	0.0:0.0:0.0:1.0	.	503	Q6UVK1	CSPG4_HUMAN	M	503	ENSP00000312506:K503M	ENSP00000312506:K503M	K	-	2	0	CSPG4	73768953	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.862000	0.62976	1.923000	0.55706	0.454000	0.30748	AAG	CSPG4	-	NULL		0.652	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	T	NM_001897		75981898	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	missense	SNP	1.000	A
CTAGE1	64693	genome.wustl.edu	37	18	19997772	19997772	+	5'Flank	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:19997772C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Start_Codon_SNP_p.M1I			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.M1I(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AATCGGGTCTCATACCTTCAG	0.517																																																	2	Substitution - Missense(2)	cervix(2)											67.0	61.0	63.0					18																	19997772		2203	4300	6503	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997772C>T	Exception_encountered		B0YIZ3	Missense_Mutation	SNP	NULL	p.M1I	ENST00000525417.1	37	c.3		18	.	.	.	.	.	.	.	.	.	.	C	5.016	0.188713	0.09547	.	.	ENSG00000212710	ENST00000391403	T	0.56776	0.44	0.822	0.822	0.18806	.	.	.	.	.	T	0.31857	0.0810	.	.	.	0.80722	D	1	B	0.27351	0.176	B	0.26969	0.075	T	0.06303	-1.0834	7	.	.	.	.	4.9361	0.13941	0.0:1.0:0.0:0.0	.	1	Q96RT6	CTGE2_HUMAN	I	1	ENSP00000375220:M1I	.	M	-	3	0	CTAGE1	18251770	1.000000	0.71417	0.004000	0.12327	0.014000	0.08584	0.940000	0.28992	0.701000	0.31803	0.305000	0.20034	ATG	CTAGE1	-	NULL		0.517	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	C	NM_022663, NM_172241		19997772	-1	no_errors	ENST00000391403	ensembl	human	known	70_37	missense	SNP	0.004	T
CTNS	1497	genome.wustl.edu	37	17	3559814	3559814	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:3559814G>C	ENST00000046640.3	+	8	1088	c.495G>C	c.(493-495)ctG>ctC	p.L165L	CTNS_ENST00000441220.2_Silent_p.L57L|CTNS_ENST00000414524.2_Silent_p.L18L|CTNS_ENST00000381870.3_Silent_p.L165L|RP11-235E17.6_ENST00000575741.1_RNA	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	165	PQ-loop 1.				adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)	p.L165L(2)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCGTGGCTCTGAACCTGACGG	0.607																																																	2	Substitution - coding silent(2)	cervix(2)											147.0	98.0	114.0					17																	3559814		2203	4300	6503	SO:0001819	synonymous_variant	1497			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.495G>C	17.37:g.3559814G>C			D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	smart_CTNS,tigrfam_LC_transporter	p.L165	ENST00000046640.3	37	c.495	CCDS11031.1	17																																																																																			CTNS	-	smart_CTNS,tigrfam_LC_transporter		0.607	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CTNS	HGNC	protein_coding	OTTHUMT00000317696.1	G	NM_004937		3559814	+1	no_errors	ENST00000381870	ensembl	human	known	70_37	silent	SNP	0.978	C
CTR9	9646	genome.wustl.edu	37	11	10795563	10795563	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:10795563C>G	ENST00000361367.2	+	22	3158	c.2732C>G	c.(2731-2733)tCt>tGt	p.S911C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	911	Lys-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.S911C(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTTTAGCGTTCTAAGAAGGGA	0.393																																																	1	Substitution - Missense(1)	cervix(1)											160.0	153.0	155.0					11																	10795563		2201	4294	6495	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2732C>G	11.37:g.10795563C>G	ENSP00000355013:p.Ser911Cys		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S911C	ENST00000361367.2	37	c.2732	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404564	0.62288	.	.	ENSG00000198730	ENST00000361367	T	0.49720	0.77	5.93	5.93	0.95920	.	0.108407	0.64402	D	0.000003	T	0.52008	0.1708	N	0.08118	0	0.47949	D	0.999558	D	0.69078	0.997	D	0.70935	0.971	T	0.60821	-0.7187	10	0.56958	D	0.05	-14.225	20.3539	0.98825	0.0:1.0:0.0:0.0	.	911	Q6PD62	CTR9_HUMAN	C	911	ENSP00000355013:S911C	ENSP00000355013:S911C	S	+	2	0	CTR9	10752139	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.359000	0.66074	2.826000	0.97356	0.655000	0.94253	TCT	CTR9	-	NULL		0.393	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	C	NM_014633		10795563	+1	no_errors	ENST00000361367	ensembl	human	known	70_37	missense	SNP	1.000	G
CTSZ	1522	genome.wustl.edu	37	20	57570797	57570797	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:57570797C>T	ENST00000217131.5	-	6	937	c.819G>A	c.(817-819)ctG>ctA	p.L273L		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	273					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)	p.L273L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			TCACGATCCTCAGCCAGCCTC	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											119.0	88.0	99.0					20																	57570797		2203	4300	6503	SO:0001819	synonymous_variant	1522			AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"""Cathepsins"""	2547	protein-coding gene	gene with protein product	"""cathepsin X"", ""carboxypeptidase LB"", ""cathepsin IV"", ""cathepsin B2"", ""cathepsin Y"", ""cathepsin Z1"", ""cysteine-type carboxypeptidase"", ""lysosomal carboxypeptidase B"""	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.819G>A	20.37:g.57570797C>T			B2RC40|O75331|Q9UQV5|Q9UQV6	Silent	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.L273	ENST00000217131.5	37	c.819	CCDS13474.1	20																																																																																			CTSZ	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.617	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSZ	HGNC	protein_coding	OTTHUMT00000079899.1	C	NM_001336		57570797	-1	no_errors	ENST00000217131	ensembl	human	known	70_37	silent	SNP	0.997	T
CUL9	23113	genome.wustl.edu	37	6	43184222	43184222	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:43184222G>A	ENST00000252050.4	+	31	6347	c.6263G>A	c.(6262-6264)tGc>tAc	p.C2088Y	CUL9_ENST00000372647.2_Missense_Mutation_p.C2060Y|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.C1978Y	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2088					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.C2088Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTCTCTGCTGCATGCACTAT	0.592																																																	1	Substitution - Missense(1)	cervix(1)											97.0	96.0	96.0					6																	43184222		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6263G>A	6.37:g.43184222G>A	ENSP00000252050:p.Cys2088Tyr		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.C2088Y	ENST00000252050.4	37	c.6263	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525584	0.85600	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	D;D;D	0.92545	-3.06;-3.06;-2.93	5.7	5.7	0.88788	Zinc finger, RING-type (1);	0.205890	0.50627	D	0.000118	D	0.95793	0.8631	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.95699	0.8747	10	0.87932	D	0	-21.3632	19.8405	0.96681	0.0:0.0:1.0:0.0	.	1978;2060;2088	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	Y	2088;1978;2060	ENSP00000252050:C2088Y;ENSP00000346490:C1978Y;ENSP00000361730:C2060Y	ENSP00000252050:C2088Y	C	+	2	0	CUL9	43292200	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	9.476000	0.97823	2.692000	0.91855	0.655000	0.94253	TGC	CUL9	-	NULL		0.592	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	G	NM_015089		43184222	+1	no_errors	ENST00000252050	ensembl	human	known	70_37	missense	SNP	1.000	A
CXorf56	63932	genome.wustl.edu	37	X	118676555	118676555	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:118676555C>T	ENST00000371594.4	-	5	504	c.426G>A	c.(424-426)gtG>gtA	p.V142V	CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000320339.4_Silent_p.V93V|CXorf56_ENST00000536133.1_Silent_p.V128V	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	142								p.V142V(1)		cervix(1)|endometrium(2)|lung(7)	10						TGGTCATCATCACCTGGAGTG	0.527																																																	1	Substitution - coding silent(1)	cervix(1)											193.0	121.0	145.0					X																	118676555		2203	4300	6503	SO:0001819	synonymous_variant	63932			AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.426G>A	X.37:g.118676555C>T			A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Silent	SNP	NULL	p.V142	ENST00000371594.4	37	c.426	CCDS14579.1	X																																																																																			CXorf56	-	NULL		0.527	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf56	HGNC	protein_coding		C	NM_022101		118676555	-1	no_errors	ENST00000371594	ensembl	human	known	70_37	silent	SNP	1.000	T
CYP1A2	1544	genome.wustl.edu	37	15	75047222	75047222	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:75047222G>C	ENST00000343932.4	+	7	1407	c.1344G>C	c.(1342-1344)atG>atC	p.M448I		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	448					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.M448I(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	GTGAGAAGATGATGCTGTTTG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											122.0	109.0	114.0					15																	75047222		2197	4296	6493	SO:0001583	missense	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1344G>C	15.37:g.75047222G>C	ENSP00000342007:p.Met448Ile		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.M448I	ENST00000343932.4	37	c.1344	CCDS32293.1	15	.	.	.	.	.	.	.	.	.	.	G	4.854	0.158687	0.09236	.	.	ENSG00000140505	ENST00000343932	T	0.68331	-0.32	4.29	-3.24	0.05094	.	0.237219	0.42294	D	0.000727	T	0.39279	0.1072	N	0.11364	0.135	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13361	-1.0512	10	0.59425	D	0.04	.	7.3674	0.26781	0.2204:0.3557:0.4239:0.0	.	448	P05177-2	.	I	448	ENSP00000342007:M448I	ENSP00000342007:M448I	M	+	3	0	CYP1A2	72834275	0.121000	0.22262	0.012000	0.15200	0.026000	0.11368	0.234000	0.17930	-0.935000	0.03728	-0.786000	0.03341	ATG	CYP1A2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.582	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	HGNC	protein_coding	OTTHUMT00000421263.2	G	NM_000761		75047222	+1	no_errors	ENST00000343932	ensembl	human	known	70_37	missense	SNP	0.016	C
CYP20A1	57404	genome.wustl.edu	37	2	204131338	204131338	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:204131338G>C	ENST00000356079.4	+	5	657	c.534G>C	c.(532-534)caG>caC	p.Q178H	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.Q178H	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	178						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.Q178H(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CTGTTACACAGATGGTAATGG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											143.0	134.0	137.0					2																	204131338		2203	4300	6503	SO:0001583	missense	57404			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.534G>C	2.37:g.204131338G>C	ENSP00000348380:p.Gln178His		Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	p.Q178H	ENST00000356079.4	37	c.534	CCDS2357.1	2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299523	0.40694	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.68903	-0.36;-0.36;-0.36	5.52	1.7	0.24286	.	0.182086	0.49305	D	0.000142	T	0.57725	0.2073	L	0.55481	1.735	0.39166	D	0.962497	B;B	0.12630	0.006;0.001	B;B	0.18871	0.023;0.01	T	0.57183	-0.7855	10	0.48119	T	0.1	-1.3316	9.0385	0.36302	0.3464:0.0:0.6536:0.0	.	178;178	E9PHG5;Q6UW02	.;CP20A_HUMAN	H	178	ENSP00000348380:Q178H;ENSP00000407860:Q178H;ENSP00000411341:Q178H	ENSP00000348380:Q178H	Q	+	3	2	CYP20A1	203839583	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	1.886000	0.39688	0.695000	0.31675	-0.157000	0.13467	CAG	CYP20A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.418	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP20A1	HGNC	protein_coding	OTTHUMT00000256328.3	G	NM_020674		204131338	+1	no_errors	ENST00000356079	ensembl	human	known	70_37	missense	SNP	0.997	C
CYP2C9	1559	genome.wustl.edu	37	10	96702004	96702004	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:96702004G>A	ENST00000260682.6	+	3	399	c.387G>A	c.(385-387)atG>atA	p.M129I	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	129					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.M129I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTCCCTCATGACGCTGCGGA	0.507																																					Ovarian(54;1266 1406 16072 35076)												1	Substitution - Missense(1)	cervix(1)											131.0	122.0	125.0					10																	96702004		2203	4300	6503	SO:0001583	missense	1559			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.387G>A	10.37:g.96702004G>A	ENSP00000260682:p.Met129Ile		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.M129I	ENST00000260682.6	37	c.387	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	11.29	1.594551	0.28445	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.12039	2.72	3.34	2.42	0.29668	.	0.250442	0.28647	U	0.014608	T	0.17109	0.0411	M	0.73372	2.23	0.30155	N	0.802721	B;B;B	0.20988	0.018;0.018;0.05	B;B;B	0.32805	0.053;0.053;0.153	T	0.09530	-1.0670	10	0.54805	T	0.06	.	5.725	0.18008	0.2578:0.0:0.7422:0.0	.	129;129;129	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	I	129	ENSP00000260682:M129I	ENSP00000260682:M129I	M	+	3	0	CYP2C9	96691994	0.296000	0.24398	0.402000	0.26371	0.947000	0.59692	-0.153000	0.10144	0.708000	0.31955	0.484000	0.47621	ATG	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.507	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	G	NM_000771		96702004	+1	no_errors	ENST00000260682	ensembl	human	known	70_37	missense	SNP	0.989	A
CYP4Z1	199974	genome.wustl.edu	37	1	47571830	47571830	+	Silent	SNP	G	G	A	rs151236717	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:47571830G>A	ENST00000334194.3	+	9	1101	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	366						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.T366T(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CTTACACCACGATGTGCATCA	0.522													G|||	12	0.00239617	0.0083	0.0	5008	,	,		18430	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	cervix(1)						G		22,4384	28.1+/-56.4	0,22,2181	140.0	119.0	126.0		1098	-6.5	0.9	1	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	CYP4Z1	NM_178134.2		0,22,6481	AA,AG,GG		0.0,0.4993,0.1692		366/506	47571830	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	199974			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1098G>A	1.37:g.47571830G>A			Q5VVE4	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.T366	ENST00000334194.3	37	c.1098	CCDS545.1	1																																																																																			CYP4Z1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV		0.522	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	HGNC	protein_coding	OTTHUMT00000022020.1	G	NM_178134		47571830	+1	no_errors	ENST00000334194	ensembl	human	known	70_37	silent	SNP	0.964	A
DAAM1	23002	genome.wustl.edu	37	14	59782054	59782054	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:59782054C>G	ENST00000395125.1	+	3	353	c.330C>G	c.(328-330)ctC>ctG	p.L110L	DAAM1_ENST00000351081.1_Silent_p.L110L|DAAM1_ENST00000360909.3_Silent_p.L110L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	110	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.L110L(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTGATCAGCTCAATTCCATGG	0.383																																																	1	Substitution - coding silent(1)	cervix(1)											226.0	194.0	205.0					14																	59782054		2203	4300	6503	SO:0001819	synonymous_variant	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.330C>G	14.37:g.59782054C>G			Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.L110	ENST00000395125.1	37	c.330	CCDS9737.1	14																																																																																			DAAM1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.383	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	C	NM_014992		59782054	+1	no_errors	ENST00000351081	ensembl	human	known	70_37	silent	SNP	0.494	G
DAAM1	23002	genome.wustl.edu	37	14	59821958	59821958	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:59821958G>A	ENST00000395125.1	+	20	2485	c.2462G>A	c.(2461-2463)gGa>gAa	p.G821E	DAAM1_ENST00000351081.1_Missense_Mutation_p.G821E|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.G811E	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	821	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.G821E(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTGGCATTTGGAAATTATATG	0.388																																																	1	Substitution - Missense(1)	cervix(1)											171.0	160.0	164.0					14																	59821958		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2462G>A	14.37:g.59821958G>A	ENSP00000378557:p.Gly821Glu		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.G821E	ENST00000395125.1	37	c.2462	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.320574	0.95682	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.92446	-3.04;-3.04;-3.04	5.81	5.81	0.92471	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.093143	0.85682	D	0.000000	D	0.97766	0.9267	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98206	1.0470	10	0.87932	D	0	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	811;821	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	E	811;821;790;821	ENSP00000354162:G811E;ENSP00000247170:G821E;ENSP00000378557:G821E	ENSP00000247170:G821E	G	+	2	0	DAAM1	58891711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.906000	0.99361	0.655000	0.94253	GGA	DAAM1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.388	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	G	NM_014992		59821958	+1	no_errors	ENST00000351081	ensembl	human	known	70_37	missense	SNP	1.000	A
DAB1	1600	genome.wustl.edu	37	1	57480998	57480998	+	Silent	SNP	C	C	T	rs201974535		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:57480998C>T	ENST00000371231.1	-	13	1135	c.1101G>A	c.(1099-1101)ccG>ccA	p.P367P	DAB1_ENST00000414851.2_Silent_p.P316P|DAB1_ENST00000371236.2_Silent_p.P334P|DAB1_ENST00000439789.2_Silent_p.P248P|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.P334P|DAB1_ENST00000420954.2_Silent_p.P332P			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	367					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.P334P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTGAGCCCCCGGCATCACCT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		14985	0.0		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	cervix(1)											37.0	40.0	39.0					1																	57480998		2203	4300	6503	SO:0001819	synonymous_variant	1600			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1101G>A	1.37:g.57480998C>T			A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.P367	ENST00000371231.1	37	c.1101		1																																																																																			DAB1	-	NULL		0.667	DAB1-010	KNOWN	basic	protein_coding	DAB1	HGNC	protein_coding	OTTHUMT00000027962.1	C	NM_021080		57480998	-1	no_errors	ENST00000371231	ensembl	human	known	70_37	silent	SNP	0.243	T
DAD1	1603	genome.wustl.edu	37	14	23043981	23043981	+	3'UTR	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:23043981C>T	ENST00000250498.4	-	0	475				DAD1_ENST00000538631.1_Intron|DAD1_ENST00000543337.1_3'UTR|DAD1_ENST00000489532.2_5'UTR	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1						apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		TCCTACTCCTCAATTAAGTAA	0.413																																																	0													114.0	115.0	114.0					14																	23043981		2203	4300	6503	SO:0001624	3_prime_UTR_variant	1603			AK223129	CCDS9571.1	14q11.2	2013-03-06			ENSG00000129562	ENSG00000129562			2664	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 2 homolog (S. cerevisiae)"", ""oligosaccharyltransferase subunit 2 (non-catalytic)"""	600243					Standard	NM_001344		Approved	OST2	uc001wgl.2	P61803	OTTHUMG00000028685	ENST00000250498.4:c.*22G>A	14.37:g.23043981C>T			D3DS25|O08552|O70364|P46966|P46968|Q6FGA3|Q96GB7	RNA	SNP	-	NULL	ENST00000250498.4	37	NULL	CCDS9571.1	14																																																																																			DAD1	-	-		0.413	DAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DAD1	HGNC	protein_coding	OTTHUMT00000071617.2	C	NM_001344		23043981	-1	no_errors	ENST00000489532	ensembl	human	known	70_37	rna	SNP	0.480	T
DAP3	7818	genome.wustl.edu	37	1	155695199	155695199	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155695199G>C	ENST00000368336.5	+	5	421	c.297G>C	c.(295-297)ctG>ctC	p.L99L	DAP3_ENST00000343043.3_Silent_p.L99L|DAP3_ENST00000421487.2_Silent_p.L65L|DAP3_ENST00000471642.2_Silent_p.L58L|DAP3_ENST00000496863.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Silent_p.L58L	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	99					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)	p.L99L(1)		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)					AAGCTTGCCTGATGGTAAGGA	0.463																																																	1	Substitution - coding silent(1)	cervix(1)											204.0	188.0	193.0					1																	155695199		2203	4300	6503	SO:0001819	synonymous_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.297G>C	1.37:g.155695199G>C			B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit	p.L99	ENST00000368336.5	37	c.297	CCDS1120.1	1																																																																																			DAP3	-	pfam_Ribosomal_S23/S29_mit		0.463	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	G	NM_004632		155695199	+1	no_errors	ENST00000343043	ensembl	human	known	70_37	silent	SNP	0.997	C
DCAF11	80344	genome.wustl.edu	37	14	24588935	24588935	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:24588935G>C	ENST00000446197.3	+	11	1649	c.922G>C	c.(922-924)Gat>Cat	p.D308H	RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000559115.1_Missense_Mutation_p.D308H|DCAF11_ENST00000396941.4_Missense_Mutation_p.D282H|DCAF11_ENST00000396936.1_Missense_Mutation_p.D208H	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	308					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.D308H(1)									GTCCCATGAGGATGATGTGAA	0.488																																																	1	Substitution - Missense(1)	cervix(1)											111.0	101.0	104.0					14																	24588935		2203	4300	6503	SO:0001583	missense	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.922G>C	14.37:g.24588935G>C	ENSP00000415556:p.Asp308His		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D308H	ENST00000446197.3	37	c.922	CCDS9610.1	14	.	.	.	.	.	.	.	.	.	.	g	20.1	3.933082	0.73442	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.60424	0.19;0.19	5.97	4.9	0.64082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046353	0.85682	D	0.000000	T	0.71719	0.3373	M	0.66560	2.04	0.58432	D	0.999998	D;D;D;P;D	0.89917	1.0;0.999;0.994;0.786;0.999	D;D;P;P;D	0.74674	0.984;0.923;0.896;0.493;0.954	T	0.69903	-0.5019	10	0.41790	T	0.15	-14.2488	13.328	0.60471	0.0883:0.0:0.9117:0.0	.	231;282;208;308;308	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	H	308;282;208;282	ENSP00000380142:D208H;ENSP00000380146:D282H	ENSP00000323680:D308H	D	+	1	0	DCAF11	23658775	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.465000	0.73538	2.837000	0.97791	0.655000	0.94253	GAT	DCAF11	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.488	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF11	HGNC	protein_coding	OTTHUMT00000071907.4	G			24588935	+1	no_errors	ENST00000446197	ensembl	human	known	70_37	missense	SNP	1.000	C
DCAKD	79877	genome.wustl.edu	37	17	43101914	43101914	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:43101914C>G	ENST00000452796.2	-	4	838	c.583G>C	c.(583-585)Gag>Cag	p.E195Q	DCAKD_ENST00000342350.5_Missense_Mutation_p.E195Q|DCAKD_ENST00000588499.1_Missense_Mutation_p.E195Q			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	195	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)	p.E195Q(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CGCTCCAGCTCAGTGTGCAAG	0.627																																																	1	Substitution - Missense(1)	cervix(1)											83.0	72.0	76.0					17																	43101914		2203	4300	6503	SO:0001583	missense	79877			BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.583G>C	17.37:g.43101914C>G	ENSP00000413483:p.Glu195Gln		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	pfam_Depp_CoAkinase,tigrfam_Depp_CoAkinase	p.E195Q	ENST00000452796.2	37	c.583	CCDS11493.1	17	.	.	.	.	.	.	.	.	.	.	C	1.762	-0.486601	0.04352	.	.	ENSG00000172992	ENST00000342350;ENST00000452796	T;T	0.44881	0.91;0.91	4.86	-3.25	0.05079	.	0.495523	0.24301	N	0.039721	T	0.18002	0.0432	N	0.16016	0.355	0.23903	N	0.996517	B	0.09022	0.002	B	0.04013	0.001	T	0.27331	-1.0077	10	0.12766	T	0.61	-8.7435	8.3507	0.32301	0.0:0.2827:0.4144:0.3029	.	195	Q8WVC6	DCAKD_HUMAN	Q	195	ENSP00000341504:E195Q;ENSP00000413483:E195Q	ENSP00000341504:E195Q	E	-	1	0	DCAKD	40457440	0.035000	0.19736	0.025000	0.17156	0.294000	0.27393	0.234000	0.17930	-0.309000	0.08779	0.542000	0.68232	GAG	DCAKD	-	NULL		0.627	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DCAKD	HGNC	protein_coding	OTTHUMT00000449066.1	C	NM_024819		43101914	-1	no_errors	ENST00000342350	ensembl	human	known	70_37	missense	SNP	0.004	G
DCC	1630	genome.wustl.edu	37	18	50278549	50278549	+	Missense_Mutation	SNP	A	A	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:50278549A>C	ENST00000442544.2	+	2	833	c.217A>C	c.(217-219)Aag>Cag	p.K73Q	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	73	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.K73Q(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCAGTGATCAAGTGGAAGAA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											94.0	90.0	91.0					18																	50278549		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.217A>C	18.37:g.50278549A>C	ENSP00000389140:p.Lys73Gln			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,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.K73Q	ENST00000442544.2	37	c.217	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506357	0.26949	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.10668	2.85	5.28	5.28	0.74379	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.135191	0.48767	D	0.000164	T	0.06142	0.0159	N	0.05199	-0.095	0.80722	D	1	B	0.30068	0.267	B	0.26517	0.07	T	0.44050	-0.9353	10	0.38643	T	0.18	.	14.1956	0.65670	1.0:0.0:0.0:0.0	.	73	P43146	DCC_HUMAN	Q	73;6	ENSP00000389140:K73Q	ENSP00000304146:K6Q	K	+	1	0	DCC	48532547	0.999000	0.42202	1.000000	0.80357	0.779000	0.44077	1.375000	0.34295	2.001000	0.58596	0.533000	0.62120	AAG	DCC	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	A	NM_005215		50278549	+1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	1.000	C
DCHS1	8642	genome.wustl.edu	37	11	6652990	6652990	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:6652990G>C	ENST00000299441.3	-	7	3943	c.3532C>G	c.(3532-3534)Cag>Gag	p.Q1178E	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1178	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1178E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGGAGCTGATAGCTGCTC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											64.0	56.0	59.0					11																	6652990		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3532C>G	11.37:g.6652990G>C	ENSP00000299441:p.Gln1178Glu		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1178E	ENST00000299441.3	37	c.3532	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766048	0.49574	.	.	ENSG00000166341	ENST00000299441	T	0.01685	4.69	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000660	T	0.01523	0.0049	N	0.11284	0.12	0.58432	D	0.99999	P	0.42456	0.78	B	0.42386	0.386	T	0.59920	-0.7363	10	0.02654	T	1	.	17.9063	0.88919	0.0:0.0:1.0:0.0	.	1178	Q96JQ0	PCD16_HUMAN	E	1178	ENSP00000299441:Q1178E	ENSP00000299441:Q1178E	Q	-	1	0	DCHS1	6609566	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.237000	0.72345	2.711000	0.92665	0.655000	0.94253	CAG	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6652990	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	C
DCLRE1A	9937	genome.wustl.edu	37	10	115602210	115602210	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:115602210C>T	ENST00000361384.2	-	6	3474	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E853K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	853					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.E853K(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CGGATAACCTCTTGCTGAGAT	0.413								Other identified genes with known or suspected DNA repair function																																									1	Substitution - Missense(1)	cervix(1)											249.0	228.0	235.0					10																	115602210		2203	4300	6503	SO:0001583	missense	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2557G>A	10.37:g.115602210C>T	ENSP00000355185:p.Glu853Lys		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.E853K	ENST00000361384.2	37	c.2557	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942127	0.92526	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.75367	-0.93;-0.93	5.96	5.06	0.68205	Beta-lactamase-like (1);	0.049079	0.85682	N	0.000000	T	0.82098	0.4963	M	0.82323	2.585	0.58432	D	0.999997	B	0.33549	0.417	P	0.45167	0.472	D	0.83630	0.0144	10	0.72032	D	0.01	-21.8976	13.5231	0.61580	0.0:0.9281:0.0:0.0719	.	853	Q6PJP8	DCR1A_HUMAN	K	853	ENSP00000355185:E853K;ENSP00000358311:E853K	ENSP00000355185:E853K	E	-	1	0	DCLRE1A	115592200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.731000	0.68554	1.532000	0.49169	-0.140000	0.14226	GAG	DCLRE1A	-	NULL		0.413	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	C	NM_014881		115602210	-1	no_errors	ENST00000361384	ensembl	human	known	70_37	missense	SNP	1.000	T
DCP1A	55802	genome.wustl.edu	37	3	53326674	53326674	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:53326674G>C	ENST00000607628.1	-	7	917	c.808C>G	c.(808-810)Caa>Gaa	p.Q270E	DCP1A_ENST00000294241.6_Missense_Mutation_p.Q270E|DCP1A_ENST00000480258.1_5'UTR|Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000606822.1_Missense_Mutation_p.Q232E	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	270					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)	p.Q270E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GTTTCTGATTGAGGGGCTCCT	0.527																																																	1	Substitution - Missense(1)	cervix(1)											53.0	57.0	56.0					3																	53326674		1938	4137	6075	SO:0001583	missense	55802			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.808C>G	3.37:g.53326674G>C	ENSP00000475920:p.Gln270Glu		B4DHN9|U3KQM8	RNA	SNP	-	NULL	ENST00000607628.1	37	NULL		3																																																																																			DCP1A	-	-		0.527	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	DCP1A	HGNC	protein_coding		G	NM_018403		53326674	-1	no_errors	ENST00000294241	ensembl	human	known	70_37	rna	SNP	0.226	C
DCTN1	1639	genome.wustl.edu	37	2	74598150	74598150	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:74598150C>G	ENST00000361874.3	-	9	1116	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	DCTN1_ENST00000409868.1_Missense_Mutation_p.E250Q|DCTN1_ENST00000409567.3_Missense_Mutation_p.E247Q|DCTN1_ENST00000409438.1_Missense_Mutation_p.E133Q|DCTN1_ENST00000409240.1_Missense_Mutation_p.E230Q|DCTN1_ENST00000394003.3_Missense_Mutation_p.E260Q|DCTN1_ENST00000407639.2_Missense_Mutation_p.E133Q	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	267					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.E267Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCCTGCTGCTCCTGCATTTTG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											210.0	221.0	217.0					2																	74598150		2203	4300	6503	SO:0001583	missense	1639				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.799G>C	2.37:g.74598150C>G	ENSP00000354791:p.Glu267Gln		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.E267Q	ENST00000361874.3	37	c.799	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951547	0.92660	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.80123	-0.92;-1.12;-0.88;-0.88;-1.34;-1.12;-1.12	5.51	5.51	0.81932	.	0.000000	0.43579	D	0.000549	D	0.88894	0.6561	M	0.66378	2.025	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;0.999;0.849;0.999;1.0;0.906	D;D;B;D;D;P	0.79108	0.972;0.956;0.378;0.986;0.992;0.582	D	0.89160	0.3529	10	0.59425	D	0.04	-12.3531	18.1828	0.89783	0.0:1.0:0.0:0.0	.	247;230;267;260;133;133	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	Q	267;260;250;133;133;230;250;247	ENSP00000354791:E267Q;ENSP00000377571:E260Q;ENSP00000384844:E133Q;ENSP00000387270:E133Q;ENSP00000386406:E230Q;ENSP00000387327:E250Q;ENSP00000386843:E247Q	ENSP00000354791:E267Q	E	-	1	0	DCTN1	74451658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.766000	0.85320	2.581000	0.87130	0.655000	0.94253	GAG	DCTN1	-	NULL		0.557	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	C	NM_004082		74598150	-1	no_errors	ENST00000361874	ensembl	human	known	70_37	missense	SNP	1.000	G
DDIT4	54541	genome.wustl.edu	37	10	74034053	74034053	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:74034053G>C	ENST00000307365.3	+	2	280	c.79G>C	c.(79-81)Gat>Cat	p.D27H	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	27					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)		p.D27H(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TCCCACCCCAGATCGGCCGCC	0.692																																																	1	Substitution - Missense(1)	cervix(1)											62.0	64.0	63.0					10																	74034053		2203	4300	6503	SO:0001583	missense	54541			AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.79G>C	10.37:g.74034053G>C	ENSP00000307305:p.Asp27His		Q9H0S3	Missense_Mutation	SNP	pfam_RTP801-like	p.D27H	ENST00000307365.3	37	c.79	CCDS7315.1	10	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650233	0.67472	.	.	ENSG00000168209	ENST00000307365	T	0.50277	0.75	4.8	2.96	0.34315	.	0.633784	0.17094	N	0.187277	T	0.34745	0.0908	N	0.24115	0.695	0.37751	D	0.925973	B	0.22909	0.077	B	0.28638	0.092	T	0.28490	-1.0042	10	0.56958	D	0.05	0.0145	10.2446	0.43332	0.1636:0.0:0.8364:0.0	.	27	Q9NX09	DDIT4_HUMAN	H	27	ENSP00000307305:D27H	ENSP00000307305:D27H	D	+	1	0	DDIT4	73704059	0.955000	0.32602	0.969000	0.41365	0.949000	0.60115	3.191000	0.50981	0.749000	0.32854	0.655000	0.94253	GAT	DDIT4	-	NULL		0.692	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4	HGNC	protein_coding	OTTHUMT00000048577.1	G	NM_019058		74034053	+1	no_errors	ENST00000307365	ensembl	human	known	70_37	missense	SNP	0.982	C
DDX11	1663	genome.wustl.edu	37	12	31244671	31244671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:31244671C>T	ENST00000407793.2	+	10	1359	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	DDX11_ENST00000545668.1_Nonsense_Mutation_p.Q370*|DDX11_ENST00000228264.6_Nonsense_Mutation_p.Q344*|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Nonsense_Mutation_p.Q370*|DDX11_ENST00000542838.1_Nonsense_Mutation_p.Q370*	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	370	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.Q370*(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTGCCCTATCAGATGCTGCT	0.657										Multiple Myeloma(12;0.14)																																							2	Substitution - Nonsense(2)	cervix(2)											14.0	15.0	15.0					12																	31244671		2162	4230	6392	SO:0001587	stop_gained	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1108C>T	12.37:g.31244671C>T	ENSP00000384703:p.Gln370*		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.Q370*	ENST00000407793.2	37	c.1108	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.023242	0.98010	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	.	.	.	3.05	3.05	0.35203	.	0.185640	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	11.6158	0.51090	0.0:1.0:0.0:0.0	.	.	.	.	X	370;370;95;344;370;370	.	ENSP00000228264:Q344X	Q	+	1	0	DDX11	31135938	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.995000	0.76257	1.535000	0.49220	0.505000	0.49811	CAG	DDX11	-	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3		0.657	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	C	NM_030653		31244671	+1	no_errors	ENST00000407793	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DDX46	9879	genome.wustl.edu	37	5	134153216	134153216	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:134153216C>T	ENST00000354283.4	+	20	2776	c.2641C>T	c.(2641-2643)Ctt>Ttt	p.L881F	DDX46_ENST00000452510.2_Missense_Mutation_p.L882F			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	881					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.L881F(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAATGCAATTCTTAGGGGTGG	0.443																																					Colon(13;391 453 4901 21675 24897)												1	Substitution - Missense(1)	cervix(1)											64.0	62.0	63.0					5																	134153216		2203	4300	6503	SO:0001583	missense	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2641C>T	5.37:g.134153216C>T	ENSP00000346236:p.Leu881Phe		O94894|Q96EI0|Q9Y658	Missense_Mutation	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.L882F	ENST00000354283.4	37	c.2644	CCDS34240.1	5	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232032	0.79688	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.28666	1.62;1.6	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.68317	2.08	0.80722	D	1	P	0.34615	0.459	B	0.37387	0.248	T	0.21008	-1.0258	10	0.51188	T	0.08	-8.2869	14.3009	0.66352	0.0:0.9293:0.0:0.0707	.	881	Q7L014	DDX46_HUMAN	F	882;881	ENSP00000416534:L882F;ENSP00000346236:L881F	ENSP00000346236:L881F	L	+	1	0	DDX46	134181115	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.923000	0.40055	2.744000	0.94065	0.655000	0.94253	CTT	DDX46	-	NULL		0.443	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1	C	NM_014829		134153216	+1	no_errors	ENST00000452510	ensembl	human	known	70_37	missense	SNP	1.000	T
DDX5	1655	genome.wustl.edu	37	17	62500815	62500815	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:62500815C>T	ENST00000225792.5	-	2	591	c.190G>A	c.(190-192)Gat>Aat	p.D64N	DDX5_ENST00000580026.1_5'Flank|CEP95_ENST00000553412.1_5'Flank|DDX5_ENST00000578804.1_Missense_Mutation_p.D64N|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000450599.2_Missense_Mutation_p.D64N|CEP95_ENST00000581056.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	64					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)	p.D64N(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTAGCCAAATCAGGGTGCTCT	0.403			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	2	Substitution - Missense(2)	cervix(2)											103.0	105.0	105.0					17																	62500815		2203	4300	6503	SO:0001583	missense	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.190G>A	17.37:g.62500815C>T	ENSP00000225792:p.Asp64Asn		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D64N	ENST00000225792.5	37	c.190	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748265	0.69533	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	T;T	0.32988	1.43;1.43	5.4	5.4	0.78164	.	0.044162	0.85682	D	0.000000	T	0.43678	0.1258	L	0.39147	1.195	0.80722	D	1	D;B;B	0.69078	0.997;0.012;0.012	D;B;B	0.80764	0.994;0.011;0.028	T	0.13469	-1.0508	10	0.02654	T	1	-20.4304	19.1893	0.93658	0.0:1.0:0.0:0.0	.	64;64;64	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	N	64;64;53	ENSP00000440276:D64N;ENSP00000403085:D64N	ENSP00000225792:D53N	D	-	1	0	DDX5	59931277	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.382000	0.79729	2.527000	0.85204	0.561000	0.74099	GAT	DDX5	-	NULL		0.403	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	C	NM_004396		62500815	-1	no_errors	ENST00000225792	ensembl	human	known	70_37	missense	SNP	1.000	T
DFFB	1677	genome.wustl.edu	37	1	3782246	3782246	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:3782246C>G	ENST00000378209.3	+	3	564				DFFB_ENST00000338895.3_Intron|DFFB_ENST00000378212.2_Nonsense_Mutation_p.S94*	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)						apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CGGGACACCTCAAGTCTGAGT	0.612																																																	0													27.0	24.0	24.0					1																	3782246		876	1990	2866	SO:0001627	intron_variant	1677				CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.242-130C>G	1.37:g.3782246C>G			O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Nonsense_Mutation	SNP	pfam_CAD,smart_CAD,pfscan_CAD	p.S94*	ENST00000378209.3	37	c.281	CCDS52.1	1	.	.	.	.	.	.	.	.	.	.	c	10.14	1.268441	0.23136	.	.	ENSG00000169598	ENST00000378212	.	.	.	0.651	-1.3	0.09259	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	.	.	.	.	.	.	.	X	94	.	ENSP00000367457:S94X	S	+	2	0	DFFB	3772106	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.659000	0.05323	-2.594000	0.00455	-2.332000	0.00249	TCA	DFFB	-	NULL		0.612	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFB	HGNC	protein_coding	OTTHUMT00000009821.2	C	NM_001282669		3782246	+1	no_errors	ENST00000339350	ensembl	human	known	70_37	nonsense	SNP	0.000	G
DGCR6	8214	genome.wustl.edu	37	22	18893924	18893924	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:18893924G>C	ENST00000331444.6	+	1	189	c.37G>C	c.(37-39)Gac>Cac	p.D13H	DGCR6_ENST00000608842.1_Missense_Mutation_p.D13H|DGCR6_ENST00000413981.1_Intron	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	13					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)		p.D13H(1)		central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GGAGGTGGCGGACGGTGCCCG	0.736																																																	1	Substitution - Missense(1)	cervix(1)											12.0	13.0	13.0					22																	18893924		2188	4270	6458	SO:0001583	missense	8214			X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.37G>C	22.37:g.18893924G>C	ENSP00000331681:p.Asp13His		B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	pfam_DGCR6	p.D13H	ENST00000331444.6	37	c.37	CCDS13753.1	22	.	.	.	.	.	.	.	.	.	.	g	34	5.388995	0.95988	.	.	ENSG00000183628	ENST00000331444	T	0.36520	1.25	3.95	3.95	0.45737	.	0.055395	0.64402	D	0.000002	T	0.56804	0.2010	M	0.70595	2.14	0.39126	D	0.961757	D	0.71674	0.998	D	0.67382	0.951	T	0.65487	-0.6156	10	0.87932	D	0	-16.7198	14.3421	0.66633	0.0:0.0:1.0:0.0	.	13	Q14129	DGCR6_HUMAN	H	13	ENSP00000331681:D13H	ENSP00000331681:D13H	D	+	1	0	DGCR6	17273924	1.000000	0.71417	0.420000	0.26596	0.779000	0.44077	5.538000	0.67193	2.167000	0.68274	0.423000	0.28283	GAC	DGCR6	-	pfam_DGCR6		0.736	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6	HGNC	protein_coding	OTTHUMT00000316631.2	G	NM_005675		18893924	+1	no_errors	ENST00000331444	ensembl	human	known	70_37	missense	SNP	0.679	C
DGKI	9162	genome.wustl.edu	37	7	137082127	137082127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:137082127C>A	ENST00000288490.5	-	32	2977	c.2977G>T	c.(2977-2979)Gaa>Taa	p.E993*	DGKI_ENST00000446122.1_Nonsense_Mutation_p.E975*|DGKI_ENST00000453654.2_Nonsense_Mutation_p.E662*|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Nonsense_Mutation_p.E1006*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	993					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.E993*(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACTCACGTTTCACTGTCTGCC	0.328																																																	2	Substitution - Nonsense(2)	cervix(2)											100.0	95.0	97.0					7																	137082127		2203	4299	6502	SO:0001587	stop_gained	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2977G>T	7.37:g.137082127C>A	ENSP00000288490:p.Glu993*		A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E996*	ENST00000288490.5	37	c.2986	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	44	10.789693	0.99468	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	4.54	4.54	0.55810	.	0.055899	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.0109	0.80402	0.0:1.0:0.0:0.0	.	.	.	.	X	662;910;996;993;975	.	ENSP00000288490:E993X	E	-	1	0	DGKI	136732667	0.999000	0.42202	0.968000	0.41197	0.950000	0.60333	4.991000	0.63883	2.520000	0.84964	0.655000	0.94253	GAA	DGKI	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.328	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	C	NM_004717		137082127	-1	no_errors	ENST00000424189	ensembl	human	known	70_37	nonsense	SNP	0.995	A
DGKK	139189	genome.wustl.edu	37	X	50213605	50213605	+	RNA	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:50213605C>G	ENST00000376025.2	-	0	132							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggcggaggcTCTGGAGACTCA	0.736																																																	0													6.0	8.0	8.0					X																	50213605		1789	3787	5576			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213605C>G			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.736	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	C	NM_001013742		50213605	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.986	G
DHRS1	115817	genome.wustl.edu	37	14	24765737	24765737	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:24765737C>T	ENST00000288111.7	-	4	628	c.352G>A	c.(352-354)Gat>Aat	p.D118N	DHRS1_ENST00000396813.1_Missense_Mutation_p.D118N	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	118						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)	p.D118N(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		TTGTTGATATCATCCCACATG	0.552											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											175.0	139.0	151.0					14																	24765737		2203	4300	6503	SO:0001583	missense	115817			AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16445	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 19C, member 1"""	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.352G>A	14.37:g.24765737C>T	ENSP00000288111:p.Asp118Asn	773	D3DS71|Q8NDG3|Q96B59|Q96CQ5	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH	p.D118N	ENST00000288111.7	37	c.352	CCDS9623.1	14	.	.	.	.	.	.	.	.	.	.	c	17.63	3.437394	0.62955	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.87887	-2.31;-2.31	5.16	5.16	0.70880	NAD(P)-binding domain (1);	0.195184	0.45606	D	0.000344	T	0.80065	0.4555	N	0.25332	0.735	0.38037	D	0.935357	B	0.26635	0.155	B	0.29663	0.105	T	0.77169	-0.2686	10	0.23302	T	0.38	-16.724	14.154	0.65405	0.0:1.0:0.0:0.0	.	118	Q96LJ7	DHRS1_HUMAN	N	118	ENSP00000288111:D118N;ENSP00000380027:D118N	ENSP00000288111:D118N	D	-	1	0	DHRS1	23835577	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.653000	0.37323	2.395000	0.81488	0.651000	0.88453	GAT	DHRS1	-	pfam_DH_sc/Rdtase_SDR		0.552	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS1	HGNC	protein_coding	OTTHUMT00000073168.4	C	NM_138452		24765737	-1	no_errors	ENST00000288111	ensembl	human	known	70_37	missense	SNP	1.000	T
DHRS12	79758	genome.wustl.edu	37	13	52348140	52348140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:52348140G>A	ENST00000444610.2	-	7	554	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	DHRS12_ENST00000218981.1_Nonsense_Mutation_p.Q132*|DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Nonsense_Mutation_p.Q132*	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	181							oxidoreductase activity (GO:0016491)	p.Q132*(2)		cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		TTCAGTTTCTGAACCAACATT	0.453																																																	2	Substitution - Nonsense(2)	cervix(2)											183.0	151.0	162.0					13																	52348140		2203	4300	6503	SO:0001587	stop_gained	79758			AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.541C>T	13.37:g.52348140G>A	ENSP00000411565:p.Gln181*		Q96GB2|Q9H8H1	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH	p.Q181*	ENST00000444610.2	37	c.541	CCDS58292.1	13	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844421	0.71488	.	.	ENSG00000102796	ENST00000444610;ENST00000218981;ENST00000280056	.	.	.	3.39	1.64	0.23874	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.4493	0.27229	0.2279:0.0:0.7721:0.0	.	.	.	.	X	181;132;132	.	ENSP00000218981:Q132X	Q	-	1	0	DHRS12	51246141	1.000000	0.71417	0.921000	0.36526	0.190000	0.23558	6.130000	0.71663	0.434000	0.26340	-0.258000	0.10820	CAG	DHRS12	-	pfam_Epimerase_deHydtase		0.453	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS12	HGNC	protein_coding	OTTHUMT00000045036.3	G	NM_024705		52348140	-1	no_errors	ENST00000444610	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DHRS3	9249	genome.wustl.edu	37	1	12677172	12677172	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:12677172C>T	ENST00000376223.2	-	1	565	c.182G>A	c.(181-183)cGc>cAc	p.R61H	DHRS3_ENST00000482265.1_5'Flank|RP11-474O21.5_ENST00000606790.1_lincRNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	61					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)	p.R61H(1)		cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCTGGCGCCGCGCTCCGCGAA	0.746																																																	1	Substitution - Missense(1)	cervix(1)											19.0	23.0	22.0					1																	12677172		2195	4277	6472	SO:0001583	missense	9249			AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.182G>A	1.37:g.12677172C>T	ENSP00000365397:p.Arg61His		B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R61H	ENST00000376223.2	37	c.182	CCDS146.1	1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208849	0.39003	.	.	ENSG00000162496	ENST00000376223	D	0.88509	-2.39	5.04	5.04	0.67666	NAD(P)-binding domain (1);	0.057178	0.64402	D	0.000001	T	0.81389	0.4812	L	0.35593	1.075	0.49299	D	0.999772	B;B;B	0.28667	0.002;0.219;0.004	B;B;B	0.26310	0.001;0.068;0.002	T	0.76677	-0.2871	10	0.21014	T	0.42	.	10.937	0.47251	0.0:0.9142:0.0:0.0858	.	61;61;61	B2R7F3;O75911-2;O75911	.;.;DHRS3_HUMAN	H	61	ENSP00000365397:R61H	ENSP00000365397:R61H	R	-	2	0	DHRS3	12599759	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.571000	0.53841	2.318000	0.78349	0.462000	0.41574	CGC	DHRS3	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR		0.746	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS3	HGNC	protein_coding	OTTHUMT00000005318.1	C	NM_004753		12677172	-1	no_errors	ENST00000376223	ensembl	human	known	70_37	missense	SNP	1.000	T
DHX29	54505	genome.wustl.edu	37	5	54570469	54570469	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:54570469G>C	ENST00000251636.5	-	16	2811	c.2663C>G	c.(2662-2664)tCa>tGa	p.S888*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	888	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					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)	p.S888*(1)		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)				TCTATCATTTGATAGAAGATC	0.303																																																	1	Substitution - Nonsense(1)	cervix(1)											29.0	29.0	29.0					5																	54570469		2200	4283	6483	SO:0001587	stop_gained	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.2663C>G	5.37:g.54570469G>C	ENSP00000251636:p.Ser888*		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Nonsense_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.S888*	ENST00000251636.5	37	c.2663	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.361035	0.98777	.	.	ENSG00000067248	ENST00000251636	.	.	.	4.99	4.99	0.66335	.	0.273778	0.36101	N	0.002784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	18.6257	0.91336	0.0:0.0:1.0:0.0	.	.	.	.	X	888	.	ENSP00000251636:S888X	S	-	2	0	DHX29	54606226	1.000000	0.71417	0.958000	0.39756	0.989000	0.77384	5.882000	0.69714	2.478000	0.83669	0.563000	0.77884	TCA	DHX29	-	smart_Helicase_C,pfscan_Helicase_C		0.303	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	G	NM_019030		54570469	-1	no_errors	ENST00000251636	ensembl	human	known	70_37	nonsense	SNP	0.983	C
DHX32	55760	genome.wustl.edu	37	10	127542656	127542656	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:127542656G>C	ENST00000284690.3	-	4	1456	c.966C>G	c.(964-966)ctC>ctG	p.L322L	DHX32_ENST00000284688.6_Intron|DHX32_ENST00000368721.1_5'UTR	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	322						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.L322L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTGTTTCATCGAGTGGCTTGA	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											140.0	140.0	140.0					10																	127542656		2203	4300	6503	SO:0001819	synonymous_variant	55760				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.966C>G	10.37:g.127542656G>C			A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.L322	ENST00000284690.3	37	c.966	CCDS7652.1	10																																																																																			DHX32	-	NULL		0.388	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	G	NM_018180		127542656	-1	no_errors	ENST00000284690	ensembl	human	known	70_37	silent	SNP	0.000	C
DHX34	9704	genome.wustl.edu	37	19	47883165	47883165	+	Missense_Mutation	SNP	G	G	A	rs539350022	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:47883165G>A	ENST00000328771.4	+	14	3254	c.2905G>A	c.(2905-2907)Gag>Aag	p.E969K		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	969					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.E969K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCTGGAGGAGGAGGAGGAGGA	0.672																																																	1	Substitution - Missense(1)	cervix(1)											44.0	40.0	41.0					19																	47883165		2203	4300	6503	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2905G>A	19.37:g.47883165G>A	ENSP00000331907:p.Glu969Lys		B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E969K	ENST00000328771.4	37	c.2905	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	G	6.996	0.553933	0.13374	.	.	ENSG00000134815	ENST00000328771	T	0.02656	4.21	4.54	4.54	0.55810	.	1.453260	0.04509	N	0.382522	T	0.02688	0.0081	N	0.12182	0.205	0.09310	N	1	B	0.20671	0.047	B	0.16722	0.016	T	0.38779	-0.9645	10	0.08381	T	0.77	-2.2866	14.1961	0.65672	0.0:0.0:1.0:0.0	.	969	Q14147	DHX34_HUMAN	K	969	ENSP00000331907:E969K	ENSP00000331907:E969K	E	+	1	0	DHX34	52574996	0.984000	0.35163	0.138000	0.22173	0.176000	0.22953	3.211000	0.51137	2.075000	0.62263	0.561000	0.74099	GAG	DHX34	-	NULL		0.672	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3	G	NM_014681		47883165	+1	no_errors	ENST00000328771	ensembl	human	known	70_37	missense	SNP	0.020	A
DIRAS3	9077	genome.wustl.edu	37	1	68512353	68512353	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:68512353C>G	ENST00000370981.1	-	4	1264	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	DIRAS3_ENST00000395201.1_Missense_Mutation_p.E210Q|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	210					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E210K(1)|p.E210Q(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCTTCTCGGGCTCCTGG	0.517																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											118.0	120.0	119.0					1																	68512353		2203	4300	6503	SO:0001583	missense	9077			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.628G>C	1.37:g.68512353C>G	ENSP00000360020:p.Glu210Gln		B3KMP3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E210Q	ENST00000370981.1	37	c.628	CCDS641.1	1	.	.	.	.	.	.	.	.	.	.	C	7.905	0.735280	0.15574	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.72942	-0.7;-0.7	4.66	-6.76	0.01732	.	.	.	.	.	T	0.14313	0.0346	N	0.01352	-0.895	0.09310	N	1	B	0.22146	0.065	B	0.19148	0.024	T	0.33111	-0.9881	9	0.12103	T	0.63	.	11.8348	0.52316	0.0:0.6059:0.141:0.2531	.	210	O95661	DIRA3_HUMAN	Q	210	ENSP00000360020:E210Q;ENSP00000378627:E210Q	ENSP00000360020:E210Q	E	-	1	0	DIRAS3	68284941	0.926000	0.31397	0.000000	0.03702	0.002000	0.02628	0.746000	0.26275	-0.807000	0.04393	-0.171000	0.13296	GAG	DIRAS3	-	NULL		0.517	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS3	HGNC	protein_coding	OTTHUMT00000026354.2	C	NM_004675		68512353	-1	no_errors	ENST00000370981	ensembl	human	known	70_37	missense	SNP	0.000	G
DIEXF	27042	genome.wustl.edu	37	1	210015736	210015736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:210015736C>T	ENST00000491415.2	+	9	1669	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	538					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q538*(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TGGGGCCCTTCAGGATGCCCA	0.498																																																	1	Substitution - Nonsense(1)	cervix(1)											133.0	131.0	132.0					1																	210015736		2203	4300	6503	SO:0001587	stop_gained	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1612C>T	1.37:g.210015736C>T	ENSP00000419005:p.Gln538*		O75992|Q4VY00|Q63HL9	Nonsense_Mutation	SNP	pfam_Digest_organ_expansion_fac-prd	p.Q538*	ENST00000491415.2	37	c.1612	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.852549	0.98525	.	.	ENSG00000117597	ENST00000491415	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-27.6907	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	538	.	ENSP00000419005:Q538X	Q	+	1	0	DIEXF	208082359	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.642000	0.83385	2.941000	0.99782	0.655000	0.94253	CAG	DIEXF	-	pfam_Digest_organ_expansion_fac-prd		0.498	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	C	NM_014388		210015736	+1	no_errors	ENST00000491415	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DIS3L	115752	genome.wustl.edu	37	15	66618191	66618191	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:66618191G>A	ENST00000319212.4	+	12	1740	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	DIS3L_ENST00000441424.2_3'UTR|DIS3L_ENST00000319194.5_Missense_Mutation_p.E481K|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	564					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.E481K(1)|p.E564K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CATCATGTGGGAACTGGATAA	0.358																																																	2	Substitution - Missense(2)	cervix(2)											149.0	158.0	155.0					15																	66618191		2201	4299	6500	SO:0001583	missense	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1690G>A	15.37:g.66618191G>A	ENSP00000321711:p.Glu564Lys		Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.E564K	ENST00000319212.4	37	c.1690	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405226	0.62288	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.35048	1.33;1.33	5.26	4.33	0.51752	Ribonuclease II/R (2);	0.048995	0.85682	D	0.000000	T	0.44052	0.1275	L	0.60455	1.87	0.80722	D	1	P;P;B	0.38129	0.456;0.619;0.402	B;P;B	0.45232	0.307;0.474;0.204	T	0.38585	-0.9654	10	0.46703	T	0.11	-8.3183	14.7783	0.69746	0.0:0.1451:0.8549:0.0	.	564;430;564	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	K	481;564	ENSP00000321583:E481K;ENSP00000321711:E564K	ENSP00000321583:E481K	E	+	1	0	DIS3L	64405245	1.000000	0.71417	0.970000	0.41538	0.718000	0.41266	6.370000	0.73114	1.170000	0.42753	0.563000	0.77884	GAA	DIS3L	-	pfam_RNase_II/R,smart_RNase_II/R		0.358	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	G	NM_133375		66618191	+1	no_errors	ENST00000319212	ensembl	human	known	70_37	missense	SNP	1.000	A
DISC1	27185	genome.wustl.edu	37	1	231830494	231830494	+	Silent	SNP	C	C	T	rs557511436		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:231830494C>T	ENST00000602281.1	+	2	1043	c.990C>T	c.(988-990)ctC>ctT	p.L330L	DISC1_ENST00000366636.4_Silent_p.L330L|DISC1_ENST00000539444.1_Silent_p.L330L|DISC1_ENST00000537876.1_Silent_p.L330L|DISC1_ENST00000317586.4_Silent_p.L330L|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Silent_p.L330L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Silent_p.L330L|DISC1_ENST00000366633.3_Silent_p.L330L	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	330	Interaction with TRAF3IP1.		L -> F (in dbSNP:rs34622148).		canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.L330L(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACACCCTGCTCAGGAAATGGG	0.622																																																	4	Substitution - coding silent(4)	cervix(4)											31.0	31.0	31.0					1																	231830494		2203	4300	6503	SO:0001819	synonymous_variant	27185			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.990C>T	1.37:g.231830494C>T			A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	superfamily_Prefoldin	p.L330	ENST00000602281.1	37	c.990	CCDS59205.1	1																																																																																			DISC1	-	NULL		0.622	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000467451.1	C	NM_018662		231830494	+1	no_errors	ENST00000439617	ensembl	human	known	70_37	silent	SNP	0.007	T
DLC1	10395	genome.wustl.edu	37	8	12957629	12957629	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:12957629C>T	ENST00000276297.4	-	9	2626	c.2217G>A	c.(2215-2217)caG>caA	p.Q739Q	DLC1_ENST00000520226.1_Silent_p.Q228Q|DLC1_ENST00000358919.2_Silent_p.Q302Q|DLC1_ENST00000512044.2_Silent_p.Q336Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	739	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.Q739Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGCTGCTGGTCTGCGTGGAGT	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											60.0	50.0	54.0					8																	12957629		2203	4300	6503	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2217G>A	8.37:g.12957629C>T			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.Q739	ENST00000276297.4	37	c.2217	CCDS5989.1	8																																																																																			DLC1	-	NULL		0.622	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	C	NM_182643, NM_006094		12957629	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	silent	SNP	1.000	T
DLGAP4	22839	genome.wustl.edu	37	20	35060247	35060247	+	Missense_Mutation	SNP	G	G	A	rs369666332		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:35060247G>A	ENST00000373907.2	+	2	326	c.127G>A	c.(127-129)Gag>Aag	p.E43K	DLGAP4_ENST00000339266.5_Missense_Mutation_p.E43K|DLGAP4_ENST00000373913.3_Missense_Mutation_p.E43K|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E43K			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	43					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.E43K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTTCGCCCGCGAGGCCCGCTT	0.687																																																	1	Substitution - Missense(1)	cervix(1)						G	LYS/GLU	0,4406		0,0,2203	37.0	40.0	39.0		127	5.7	0.9	20		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	DLGAP4	NM_014902.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	43/990	35060247	1,13005	2203	4300	6503	SO:0001583	missense	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.127G>A	20.37:g.35060247G>A	ENSP00000363014:p.Glu43Lys		E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	pfam_GKAP	p.E43K	ENST00000373907.2	37	c.127		20	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214459	0.58452	0.0	1.16E-4	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.67	5.67	0.87782	.	0.284770	0.40554	N	0.001069	T	0.39600	0.1084	L	0.61218	1.895	0.52501	D	0.99995	P	0.51791	0.948	B	0.33890	0.172	T	0.48375	-0.9041	10	0.49607	T	0.09	.	18.7705	0.91890	0.0:0.0:1.0:0.0	.	43	Q9Y2H0-1	.	K	43	ENSP00000363023:E43K;ENSP00000384954:E43K;ENSP00000363014:E43K;ENSP00000341633:E43K	ENSP00000341633:E43K	E	+	1	0	DLGAP4	34493661	1.000000	0.71417	0.948000	0.38648	0.528000	0.34623	5.678000	0.68153	2.677000	0.91161	0.561000	0.74099	GAG	DLGAP4	-	NULL		0.687	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	G	NM_014902		35060247	+1	no_errors	ENST00000339266	ensembl	human	known	70_37	missense	SNP	0.999	A
DMBT1	1755	genome.wustl.edu	37	10	124348773	124348773	+	Silent	SNP	C	C	T	rs556774273		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:124348773C>T	ENST00000338354.3	+	17	2203	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	DMBT1_ENST00000368955.3_Silent_p.V689V|DMBT1_ENST00000344338.3_Silent_p.V689V|DMBT1_ENST00000368909.3_Silent_p.V699V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	699	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.V699V(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGCTGGTGTCATCTGCTCAG	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20472	0.0		0.0	False		,,,				2504	0.0				Ovarian(182;93 2026 18125 22222 38972)												3	Substitution - coding silent(3)	cervix(3)											92.0	64.0	73.0					10																	124348773		1961	4099	6060	SO:0001819	synonymous_variant	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2097C>T	10.37:g.124348773C>T			A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.V699	ENST00000338354.3	37	c.2097		10																																																																																			DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.522	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	C	NM_004406		124348773	+1	no_errors	ENST00000368915	ensembl	human	known	70_37	silent	SNP	1.000	T
DMXL2	23312	genome.wustl.edu	37	15	51768825	51768825	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:51768825C>G	ENST00000251076.5	-	27	7209	c.6922G>C	c.(6922-6924)Gaa>Caa	p.E2308Q	DMXL2_ENST00000449909.3_Missense_Mutation_p.E1672Q|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.E2309Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2308						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.E2308Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTGCGTGTTCTTCAATGCTT	0.358																																																	1	Substitution - Missense(1)	cervix(1)											174.0	164.0	167.0					15																	51768825		2196	4293	6489	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6922G>C	15.37:g.51768825C>G	ENSP00000251076:p.Glu2308Gln		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2309Q	ENST00000251076.5	37	c.6925	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849062	0.91277	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.26810	1.84;1.85;1.71	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	M	0.73598	2.24	0.80722	D	1	D;D;D;P	0.89917	1.0;0.993;0.997;0.949	D;D;D;P	0.75484	0.982;0.968;0.986;0.54	T	0.57254	-0.7843	10	0.72032	D	0.01	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	2309;1672;2308;2309	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Q	2308;2309;1672	ENSP00000251076:E2308Q;ENSP00000441858:E2309Q;ENSP00000400855:E1672Q	ENSP00000251076:E2308Q	E	-	1	0	DMXL2	49556117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.270000	0.78493	2.502000	0.84385	0.655000	0.94253	GAA	DMXL2	-	NULL		0.358	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	C	NM_015263		51768825	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH1	25981	genome.wustl.edu	37	3	52417975	52417975	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:52417975G>A	ENST00000420323.2	+	52	8511	c.8250G>A	c.(8248-8250)ctG>ctA	p.L2750L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2750	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L2750L(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGAAGCCCTGAAGTCTGTGG	0.572																																																	2	Substitution - coding silent(2)	cervix(2)											37.0	39.0	39.0					3																	52417975		1912	4123	6035	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8250G>A	3.37:g.52417975G>A			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.L2750	ENST00000420323.2	37	c.8250	CCDS46842.1	3																																																																																			DNAH1	-	NULL		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52417975	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	0.943	A
DNAH1	25981	genome.wustl.edu	37	3	52432098	52432098	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:52432098C>T	ENST00000420323.2	+	75	12270	c.12009C>T	c.(12007-12009)atC>atT	p.I4003I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4068					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I4067I(1)|p.I4003I(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGCCTATCAACTTGCAAT	0.517																																																	2	Substitution - coding silent(2)	cervix(2)											78.0	85.0	82.0					3																	52432098		2170	4279	6449	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12009C>T	3.37:g.52432098C>T			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.I4003	ENST00000420323.2	37	c.12009	CCDS46842.1	3																																																																																			DNAH1	-	pfam_Dynein_heavy_dom		0.517	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52432098	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	0.190	T
DNAH11	8701	genome.wustl.edu	37	7	21826259	21826259	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:21826259G>A	ENST00000409508.3	+	59	9646	c.9615G>A	c.(9613-9615)ctG>ctA	p.L3205L	DNAH11_ENST00000328843.6_Silent_p.L3212L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3212	Stalk. {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)	p.L3212L(1)		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						TCAGTGAGCTGAAAGCCTTTC	0.517									Kartagener syndrome																																								1	Substitution - coding silent(1)	cervix(1)											138.0	137.0	137.0					7																	21826259		1954	4146	6100	SO:0001819	synonymous_variant	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.9615G>A	7.37:g.21826259G>A			Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3212	ENST00000409508.3	37	c.9636		7																																																																																			DNAH11	-	NULL		0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21826259	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	silent	SNP	1.000	A
DNAH17	8632	genome.wustl.edu	37	17	76435191	76435191	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:76435191C>G	ENST00000585328.1	-	73	11895	c.11771G>C	c.(11770-11772)gGa>gCa	p.G3924A	DNAH17_ENST00000389840.5_Missense_Mutation_p.G3915A|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3915	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)	p.G3924A(1)		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)			GACCCAGTGTCCTTTCTCTGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											75.0	58.0	64.0					17																	76435191		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.11771G>C	17.37:g.76435191C>G	ENSP00000465516:p.Gly3924Ala		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.G3915A	ENST00000585328.1	37	c.11744		17	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807892	0.90623	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.50277	0.75	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000018	D	0.83422	0.5251	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91058	0.4883	10	0.87932	D	0	.	18.6943	0.91594	0.0:1.0:0.0:0.0	.	3924	E7EUM8	.	A	3924;3915	ENSP00000374490:G3915A	ENSP00000300671:G3924A	G	-	2	0	DNAH17	73946786	1.000000	0.71417	0.989000	0.46669	0.793000	0.44817	7.699000	0.84547	2.502000	0.84385	0.655000	0.94253	GGA	DNAH17	-	pfam_Dynein_heavy_dom		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	C	NM_173628		76435191	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH5	1767	genome.wustl.edu	37	5	13830290	13830290	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:13830290C>T	ENST00000265104.4	-	37	6198	c.6094G>A	c.(6094-6096)Gat>Aat	p.D2032N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2032	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2032N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAAATTCATCAAAACAACCC	0.343									Kartagener syndrome																																								1	Substitution - Missense(1)	cervix(1)											77.0	77.0	77.0					5																	13830290		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6094G>A	5.37:g.13830290C>T	ENSP00000265104:p.Asp2032Asn		Q92860|Q96L74|Q9H5S7|Q9HCG9	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.D2032N	ENST00000265104.4	37	c.6094	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947510	0.92593	.	.	ENSG00000039139	ENST00000265104	T	0.74947	-0.89	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93275	0.6655	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2032	Q8TE73	DYH5_HUMAN	N	2032	ENSP00000265104:D2032N	ENSP00000265104:D2032N	D	-	1	0	DNAH5	13883290	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAT	DNAH5	-	smart_AAA+_ATPase		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	C	NM_001369		13830290	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13916485	13916485	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:13916485G>C	ENST00000265104.4	-	9	1273	c.1169C>G	c.(1168-1170)tCt>tGt	p.S390C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	390	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S390C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATCTTCTCAGAGGTATTATA	0.308									Kartagener syndrome																																								1	Substitution - Missense(1)	cervix(1)											80.0	82.0	82.0					5																	13916485		2201	4291	6492	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1169C>G	5.37:g.13916485G>C	ENSP00000265104:p.Ser390Cys		Q92860|Q96L74|Q9H5S7|Q9HCG9	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.S390C	ENST00000265104.4	37	c.1169	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333495	0.81801	.	.	ENSG00000039139	ENST00000265104	T	0.57907	0.37	5.04	5.04	0.67666	Dynein heavy chain, domain-1 (1);	0.059310	0.64402	D	0.000002	T	0.78978	0.4369	M	0.90977	3.165	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.84169	0.0433	10	0.72032	D	0.01	.	18.7613	0.91853	0.0:0.0:1.0:0.0	.	390	Q8TE73	DYH5_HUMAN	C	390	ENSP00000265104:S390C	ENSP00000265104:S390C	S	-	2	0	DNAH5	13969485	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.584000	0.98220	2.492000	0.84095	0.650000	0.86243	TCT	DNAH5	-	pfam_Dynein_heavy_dom-1		0.308	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13916485	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH8	1769	genome.wustl.edu	37	6	38738332	38738332	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:38738332G>C	ENST00000359357.3	+	10	1364	c.1110G>C	c.(1108-1110)gaG>gaC	p.E370D	DNAH8_ENST00000449981.2_Missense_Mutation_p.E587D|DNAH8_ENST00000441566.1_Missense_Mutation_p.E370D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	370					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)	p.E370D(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAGACTGGAGAAGGTAAGCA	0.363																																																	2	Substitution - Missense(2)	cervix(2)											41.0	39.0	40.0					6																	38738332		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1110G>C	6.37:g.38738332G>C	ENSP00000352312:p.Glu370Asp		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	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.E370D	ENST00000359357.3	37	c.1110		6	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769310	0.31320	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55052	0.54;0.54;0.54	5.27	2.5	0.30297	Dynein heavy chain, domain-1 (1);	0.060689	0.64402	D	0.000005	T	0.18551	0.0445	L	0.38692	1.165	0.45962	D	0.998784	B	0.17038	0.02	B	0.24701	0.055	T	0.05903	-1.0857	10	0.13470	T	0.59	.	6.265	0.20922	0.3966:0.0:0.6034:0.0	.	370	Q96JB1	DYH8_HUMAN	D	575;575;370;370	ENSP00000333363:E575D;ENSP00000352312:E370D;ENSP00000402294:E370D	ENSP00000333363:E575D	E	+	3	2	DNAH8	38846310	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.107000	0.41844	0.725000	0.32318	-0.152000	0.13540	GAG	DNAH8	-	pfam_Dynein_heavy_dom-1		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38738332	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAJB1	3337	genome.wustl.edu	37	19	14629110	14629110	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:14629110C>T	ENST00000254322.2	-	1	122	c.52G>A	c.(52-54)Gag>Aag	p.E18K	DNAJB1_ENST00000396969.4_Intron	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	18	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.E18K(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TTGATCTCCTCGTCCGACGCG	0.701																																																	1	Substitution - Missense(1)	cervix(1)											36.0	30.0	32.0					19																	14629110		2200	4297	6497	SO:0001583	missense	3337			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.52G>A	19.37:g.14629110C>T	ENSP00000254322:p.Glu18Lys		B4DX52	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E18K	ENST00000254322.2	37	c.52	CCDS12312.1	19	.	.	.	.	.	.	.	.	.	.	N	37	5.995232	0.97184	.	.	ENSG00000132002	ENST00000254322	T	0.30981	1.51	5.15	5.15	0.70609	Heat shock protein DnaJ, N-terminal (5);	0.177232	0.47455	D	0.000225	T	0.24774	0.0601	N	0.25825	0.765	0.80722	D	1	P	0.34662	0.462	B	0.33254	0.16	T	0.07501	-1.0769	10	0.59425	D	0.04	.	16.1618	0.81727	0.0:1.0:0.0:0.0	.	18	P25685	DNJB1_HUMAN	K	18	ENSP00000254322:E18K	ENSP00000254322:E18K	E	-	1	0	DNAJB1	14490110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	2.423000	0.82170	0.478000	0.44815	GAG	DNAJB1	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.701	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB1	HGNC	protein_coding	OTTHUMT00000465987.1	C	NM_006145		14629110	-1	no_errors	ENST00000254322	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAJC1	64215	genome.wustl.edu	37	10	22048443	22048443	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:22048443C>G	ENST00000376980.3	-	11	1542	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	418					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E418Q(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GCCACCCCCTCTGCGTCCTCT	0.632																																																	1	Substitution - Missense(1)	cervix(1)											45.0	40.0	42.0					10																	22048443		2203	4300	6503	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1252G>C	10.37:g.22048443C>G	ENSP00000366179:p.Glu418Gln		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.E418Q	ENST00000376980.3	37	c.1252	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506840	0.26949	.	.	ENSG00000136770	ENST00000376980	T	0.65364	-0.15	5.35	-1.28	0.09318	.	1.619170	0.02817	N	0.125039	T	0.44265	0.1285	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.10450	0.002;0.005	T	0.24728	-1.0152	10	0.14252	T	0.57	1.7672	10.0819	0.42395	0.0:0.4077:0.465:0.1273	.	139;418	Q96NY3;Q96KC8	.;DNJC1_HUMAN	Q	418	ENSP00000366179:E418Q	ENSP00000366179:E418Q	E	-	1	0	DNAJC1	22088449	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.605000	0.24179	-0.565000	0.06061	0.491000	0.48974	GAG	DNAJC1	-	NULL		0.632	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	C	NM_022365		22048443	-1	no_errors	ENST00000376980	ensembl	human	known	70_37	missense	SNP	0.000	G
DNALI1	7802	genome.wustl.edu	37	1	38027426	38027426	+	3'UTR	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:38027426C>T	ENST00000497858.1	+	0	1288				DNALI1_ENST00000296218.7_Intron|DNALI1_ENST00000541606.1_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)				ATTCTGACCTCCTAAGGTGCT	0.537											OREG0013380	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	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.*1285C>T	1.37:g.38027426C>T		875	A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	RNA	SNP	-	NULL	ENST00000497858.1	37	NULL		1																																																																																			DNALI1	-	-		0.537	DNALI1-002	KNOWN	basic	processed_transcript	DNALI1	HGNC	protein_coding	OTTHUMT00000012160.1	C	NM_003462		38027426	+1	no_errors	ENST00000497858	ensembl	human	known	70_37	rna	SNP	0.000	T
DNM1L	10059	genome.wustl.edu	37	12	32890800	32890800	+	Splice_Site	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:32890800C>T	ENST00000549701.1	+	15	1672	c.1598C>T	c.(1597-1599)tCt>tTt	p.S533F	DNM1L_ENST00000452533.2_Intron|DNM1L_ENST00000266481.6_Intron|DNM1L_ENST00000553257.1_Splice_Site_p.S546F|DNM1L_ENST00000381000.4_Splice_Site_p.S546F|DNM1L_ENST00000358214.5_Intron|DNM1L_ENST00000547312.1_Splice_Site_p.S533F|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Splice_Site_p.S330F			O00429	DNM1L_HUMAN	dynamin 1-like	533	B domain.|Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.S533F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGCCTTTAGTCTTCTAAAGTT	0.433																																																	1	Substitution - Missense(1)	cervix(1)											64.0	63.0	64.0					12																	32890800		2203	4300	6503	SO:0001630	splice_region_variant	10059			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1597-1C>T	12.37:g.32890800C>T			A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.S546F	ENST00000549701.1	37	c.1637	CCDS8729.1	12	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834928	0.50951	.	.	ENSG00000087470	ENST00000411996;ENST00000553257;ENST00000549701;ENST00000547312;ENST00000414834;ENST00000381000	D;D;D;T;D	0.90788	-2.71;-2.71;-2.72;-1.37;-2.73	5.53	5.53	0.82687	.	1.012920	0.07952	N	0.981106	D	0.85075	0.5614	N	0.08118	0	0.80722	D	1	B;B;B;B	0.10296	0.001;0.0;0.003;0.0	B;B;B;B	0.09377	0.002;0.001;0.004;0.001	T	0.68341	-0.5434	10	0.56958	D	0.05	.	19.4936	0.95062	0.0:1.0:0.0:0.0	.	330;586;599;533	B4DGC9;D3DUW5;F8W8D1;O00429	.;.;.;DNM1L_HUMAN	F	599;546;533;533;330;546	ENSP00000449089:S546F;ENSP00000450399:S533F;ENSP00000448610:S533F;ENSP00000404160:S330F;ENSP00000370388:S546F	ENSP00000370388:S546F	S	+	2	0	DNM1L	32782067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.157000	0.64911	2.605000	0.88082	0.655000	0.94253	TCT	DNM1L	-	NULL		0.433	DNM1L-003	KNOWN	basic|CCDS	protein_coding	DNM1L	HGNC	protein_coding	OTTHUMT00000404124.1	C	NM_012062	Missense_Mutation	32890800	+1	no_errors	ENST00000553257	ensembl	human	known	70_37	missense	SNP	1.000	T
DNMBP	23268	genome.wustl.edu	37	10	101715662	101715662	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:101715662C>T	ENST00000324109.4	-	4	1660	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.M523I	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	523					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M523I(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GACCAGGCTTCATCTCCAATC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											110.0	106.0	107.0					10																	101715662		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1569G>A	10.37:g.101715662C>T	ENSP00000315659:p.Met523Ile		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.M523I	ENST00000324109.4	37	c.1569	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	C	7.951	0.744848	0.15710	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.11385	2.84;2.78	5.92	-0.997	0.10215	.	1.585200	0.03656	N	0.241850	T	0.09423	0.0232	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39057	-0.9632	10	0.35671	T	0.21	0.2545	8.9375	0.35708	0.0:0.6165:0.1011:0.2824	.	523	Q6XZF7	DNMBP_HUMAN	I	523	ENSP00000344914:M523I;ENSP00000315659:M523I	ENSP00000315659:M523I	M	-	3	0	DNMBP	101705652	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.227000	0.09126	-0.064000	0.13043	0.561000	0.74099	ATG	DNMBP	-	NULL		0.502	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	C	NM_015221		101715662	-1	no_errors	ENST00000342239	ensembl	human	known	70_37	missense	SNP	0.000	T
DNMBP	23268	genome.wustl.edu	37	10	101716192	101716192	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:101716192C>T	ENST00000324109.4	-	4	1130	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.E347K	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	347					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E347K(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCAGGCTCCTCGGCCTCATGG	0.498																																																	1	Substitution - Missense(1)	cervix(1)											119.0	118.0	119.0					10																	101716192		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1039G>A	10.37:g.101716192C>T	ENSP00000315659:p.Glu347Lys		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.E347K	ENST00000324109.4	37	c.1039	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335875	0.24253	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.12039	2.78;2.72	5.86	3.96	0.45880	Src homology-3 domain (1);	0.254061	0.27861	N	0.017544	T	0.06917	0.0176	N	0.24115	0.695	0.09310	N	0.999994	B	0.28850	0.225	B	0.20955	0.032	T	0.34601	-0.9822	10	0.08599	T	0.76	-17.2831	7.856	0.29483	0.0:0.7282:0.1338:0.1381	.	347	Q6XZF7	DNMBP_HUMAN	K	347	ENSP00000344914:E347K;ENSP00000315659:E347K	ENSP00000315659:E347K	E	-	1	0	DNMBP	101706182	0.024000	0.19004	0.028000	0.17463	0.008000	0.06430	0.599000	0.24089	1.446000	0.47643	0.561000	0.74099	GAG	DNMBP	-	superfamily_SH3_domain		0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	C	NM_015221		101716192	-1	no_errors	ENST00000342239	ensembl	human	known	70_37	missense	SNP	0.004	T
DNMT3A	1788	genome.wustl.edu	37	2	25505330	25505330	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:25505330C>T	ENST00000264709.3	-	4	765	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R143Q|DNMT3A_ENST00000406659.3_Missense_Mutation_p.R143Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	143					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R143Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGGCTCCTCGGCCCTCCTT	0.657			"""Mis, F, N, S"""		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	cervix(1)											17.0	20.0	19.0					2																	25505330		2200	4299	6499	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.428G>A	2.37:g.25505330C>T	ENSP00000264709:p.Arg143Gln		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.R143Q	ENST00000264709.3	37	c.428	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483568	0.63962	.	.	ENSG00000119772	ENST00000321117;ENST00000264709;ENST00000406659	D;D	0.93604	-3.25;-3.25	4.81	3.8	0.43715	.	0.434183	0.19001	N	0.125342	T	0.82001	0.4942	N	0.14661	0.345	0.30239	N	0.795209	B;B	0.28470	0.213;0.0	B;B	0.19391	0.025;0.0	T	0.72896	-0.4153	10	0.13853	T	0.58	-1.9064	5.1977	0.15246	0.0:0.8133:0.0:0.1867	.	143;143	Q9Y6K1-3;Q9Y6K1	.;DNM3A_HUMAN	Q	143	ENSP00000324375:R143Q;ENSP00000264709:R143Q	ENSP00000264709:R143Q	R	-	2	0	DNMT3A	25358834	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	1.267000	0.33050	2.223000	0.72356	0.563000	0.77884	CGA	DNMT3A	-	NULL		0.657	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25505330	-1	no_errors	ENST00000264709	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK10	55619	genome.wustl.edu	37	2	225751178	225751178	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:225751178C>T	ENST00000258390.7	-	5	554	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	DOCK10_ENST00000409592.3_Missense_Mutation_p.E157K	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	163					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E163K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTACTTACTTCATCCTTATCA	0.338																																																	1	Substitution - Missense(1)	cervix(1)											98.0	96.0	97.0					2																	225751178		1865	4092	5957	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.487G>A	2.37:g.225751178C>T	ENSP00000258390:p.Glu163Lys		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E163K	ENST00000258390.7	37	c.487	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.433253	0.96150	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.11169	2.8;2.8	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	M	0.73217	2.22	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.991;0.997;0.993	T	0.02743	-1.1116	10	0.72032	D	0.01	.	19.7948	0.96474	0.0:1.0:0.0:0.0	.	163;163;157	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	K	157;163	ENSP00000386694:E157K;ENSP00000258390:E163K	ENSP00000258390:E163K	E	-	1	0	DOCK10	225459422	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.175000	0.77632	2.687000	0.91594	0.650000	0.86243	GAA	DOCK10	-	NULL		0.338	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	C			225751178	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	1.000	T
DOK5	55816	genome.wustl.edu	37	20	53226988	53226988	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:53226988C>G	ENST00000262593.5	+	6	1011	c.661C>G	c.(661-663)Cag>Gag	p.Q221E	DOK5_ENST00000395939.1_Missense_Mutation_p.Q113E	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	221	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.Q221E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GGCCATCTATCAGAAAGTCCA	0.488																																																	1	Substitution - Missense(1)	cervix(1)											84.0	75.0	78.0					20																	53226988		2203	4300	6503	SO:0001583	missense	55816			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.661C>G	20.37:g.53226988C>G	ENSP00000262593:p.Gln221Glu		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.Q221E	ENST00000262593.5	37	c.661	CCDS13446.1	20	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754038	0.69648	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	T;T	0.72835	-0.69;-0.69	5.78	5.78	0.91487	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.108796	0.64402	D	0.000004	T	0.66499	0.2795	L	0.43923	1.385	0.51012	D	0.999902	B;B	0.21071	0.051;0.046	B;B	0.21151	0.033;0.014	T	0.60094	-0.7330	10	0.37606	T	0.19	-21.1277	19.0159	0.92894	0.0:1.0:0.0:0.0	.	113;221	Q9P104-2;Q9P104	.;DOK5_HUMAN	E	221;113	ENSP00000262593:Q221E;ENSP00000379270:Q113E	ENSP00000262593:Q221E	Q	+	1	0	DOK5	52660395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.690000	0.84178	2.732000	0.93576	0.655000	0.94253	CAG	DOK5	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1		0.488	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK5	HGNC	protein_coding	OTTHUMT00000079777.2	C			53226988	+1	no_errors	ENST00000262593	ensembl	human	known	70_37	missense	SNP	1.000	G
DOK6	220164	genome.wustl.edu	37	18	67365819	67365819	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:67365819G>A	ENST00000382713.5	+	5	779	c.589G>A	c.(589-591)Gag>Aag	p.E197K	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	197	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.							p.E197K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GTTCACGTTTGAGTCAGGAAG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											62.0	55.0	57.0					18																	67365819		2203	4300	6503	SO:0001583	missense	220164			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.589G>A	18.37:g.67365819G>A	ENSP00000372160:p.Glu197Lys		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.E197K	ENST00000382713.5	37	c.589	CCDS32841.1	18	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442637	0.63067	.	.	ENSG00000206052	ENST00000382713	D	0.90324	-2.65	5.72	5.72	0.89469	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.103230	0.64402	D	0.000003	D	0.96303	0.8794	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.96673	0.9498	10	0.87932	D	0	.	18.8571	0.92257	0.0:0.0:1.0:0.0	.	197	Q6PKX4	DOK6_HUMAN	K	197	ENSP00000372160:E197K	ENSP00000372160:E197K	E	+	1	0	DOK6	65516799	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.722000	0.98770	2.709000	0.92574	0.591000	0.81541	GAG	DOK6	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1		0.478	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK6	HGNC	protein_coding	OTTHUMT00000442969.1	G	NM_152721		67365819	+1	no_errors	ENST00000382713	ensembl	human	known	70_37	missense	SNP	1.000	A
DOPEY2	9980	genome.wustl.edu	37	21	37642322	37642322	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:37642322G>C	ENST00000399151.3	+	27	5584	c.5499G>C	c.(5497-5499)caG>caC	p.Q1833H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1833					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)		p.Q1833H(1)		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						AAATCACTCAGAAAATCCTAG	0.458																																																	1	Substitution - Missense(1)	cervix(1)											111.0	123.0	119.0					21																	37642322		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.5499G>C	21.37:g.37642322G>C	ENSP00000382104:p.Gln1833His		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.Q1833H	ENST00000399151.3	37	c.5499	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565261	0.27915	.	.	ENSG00000142197	ENST00000399151	T	0.66815	-0.23	5.17	-5.42	0.02640	.	0.054653	0.85682	N	0.000000	T	0.67924	0.2945	L	0.52266	1.64	0.44834	D	0.997847	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71234	-0.4653	10	0.13853	T	0.58	-1.0231	11.4222	0.49989	0.3474:0.0925:0.5601:0.0	.	1833;1833	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	H	1833	ENSP00000382104:Q1833H	ENSP00000382104:Q1833H	Q	+	3	2	DOPEY2	36564192	1.000000	0.71417	0.877000	0.34402	0.992000	0.81027	0.936000	0.28938	-1.115000	0.02973	-0.145000	0.13849	CAG	DOPEY2	-	NULL		0.458	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37642322	+1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.969	C
DOT1L	84444	genome.wustl.edu	37	19	2226837	2226837	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:2226837C>T	ENST00000398665.3	+	27	4353	c.4317C>T	c.(4315-4317)ctC>ctT	p.L1439L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1439					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.L1439L(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GAAGCCTCCTCAGCGGCCCCG	0.756																																																	2	Substitution - coding silent(2)	cervix(2)											11.0	16.0	15.0					19																	2226837		1799	4022	5821	SO:0001819	synonymous_variant	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4317C>T	19.37:g.2226837C>T			O60379|Q96JL1	Silent	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.L1439	ENST00000398665.3	37	c.4317	CCDS42460.1	19																																																																																			DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met		0.756	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	C	NM_032482		2226837	+1	no_errors	ENST00000398665	ensembl	human	known	70_37	silent	SNP	0.764	T
DPF3	8110	genome.wustl.edu	37	14	73190406	73190406	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:73190406C>T	ENST00000556509.1	-	5	459	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	DPF3_ENST00000546183.1_Missense_Mutation_p.E164K|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_Missense_Mutation_p.E154K	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	154					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.E154K(2)|p.E153K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCATTCCCTTCTTCTACATTT	0.388																																																	3	Substitution - Missense(3)	cervix(3)											212.0	209.0	209.0					14																	73190406		1847	4097	5944	SO:0001583	missense	8110			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.460G>A	14.37:g.73190406C>T	ENSP00000450518:p.Glu154Lys		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E209K	ENST00000556509.1	37	c.625		14	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951609	0.73787	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.90676	-2.71;-0.13;-0.15	5.07	5.07	0.68467	.	.	.	.	.	D	0.86851	0.6032	L	0.34521	1.04	0.49915	D	0.999834	P;P;B	0.38370	0.628;0.597;0.231	B;B;B	0.37144	0.236;0.242;0.055	D	0.87524	0.2448	9	0.51188	T	0.08	.	18.4822	0.90817	0.0:1.0:0.0:0.0	.	164;154;154	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	K	154;154;153;154;164	ENSP00000450518:E154K;ENSP00000441640:E154K;ENSP00000444662:E164K	ENSP00000381791:E209K	E	-	1	0	DPF3	72260159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.652000	0.67959	2.364000	0.80123	0.561000	0.74099	GAA	DPF3	-	NULL		0.388	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	C			73190406	-1	no_errors	ENST00000366353	ensembl	human	known	70_37	missense	SNP	1.000	T
DSCAML1	57453	genome.wustl.edu	37	11	117303882	117303882	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:117303882G>C	ENST00000321322.6	-	29	5179	c.5178C>G	c.(5176-5178)atC>atG	p.I1726M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1456M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1666					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I1726M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTTGTCCTCGATGAGCAGCT	0.567																																																	1	Substitution - Missense(1)	cervix(1)											121.0	103.0	109.0					11																	117303882		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5178C>G	11.37:g.117303882G>C	ENSP00000315465:p.Ile1726Met		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I1726M	ENST00000321322.6	37	c.5178	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541570	0.65085	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.69306	-0.34;-0.39	5.46	-6.5	0.01884	.	.	.	.	.	T	0.77184	0.4093	M	0.65498	2.005	0.45979	D	0.998798	D	0.76494	0.999	D	0.76071	0.987	T	0.81331	-0.0981	9	0.66056	D	0.02	.	17.8652	0.88794	0.2122:0.0:0.7878:0.0	.	1666	Q8TD84	DSCL1_HUMAN	M	1456;1726;1433	ENSP00000434335:I1456M;ENSP00000315465:I1726M	ENSP00000315465:I1726M	I	-	3	3	DSCAML1	116809092	0.855000	0.29742	0.903000	0.35520	0.977000	0.68977	-0.028000	0.12350	-1.123000	0.02940	-1.076000	0.02234	ATC	DSCAML1	-	NULL		0.567	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	G	NM_020693		117303882	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	0.853	C
DSG3	1830	genome.wustl.edu	37	18	29046629	29046629	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:29046629G>A	ENST00000257189.4	+	11	1631	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	516					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L516L(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTAGAACACTGAATAATAGAT	0.443																																																	1	Substitution - coding silent(1)	cervix(1)											128.0	116.0	120.0					18																	29046629		2203	4300	6503	SO:0001819	synonymous_variant	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1548G>A	18.37:g.29046629G>A			A8K2V2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.L516	ENST00000257189.4	37	c.1548	CCDS11898.1	18																																																																																			DSG3	-	superfamily_Cadherin-like		0.443	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	G	NM_001944		29046629	+1	no_errors	ENST00000257189	ensembl	human	known	70_37	silent	SNP	0.000	A
DSG3	1830	genome.wustl.edu	37	18	29049131	29049131	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:29049131G>C	ENST00000257189.4	+	12	1799	c.1716G>C	c.(1714-1716)caG>caC	p.Q572H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	572					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q572H(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGACAGTCAGAACAATCGGT	0.522																																																	1	Substitution - Missense(1)	cervix(1)											154.0	140.0	144.0					18																	29049131		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1716G>C	18.37:g.29049131G>C	ENSP00000257189:p.Gln572His		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.Q572H	ENST00000257189.4	37	c.1716	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292590	0.23564	.	.	ENSG00000134757	ENST00000257189	T	0.61627	0.09	5.95	3.8	0.43715	.	0.476025	0.17375	N	0.176533	T	0.42223	0.1193	L	0.52759	1.655	0.09310	N	1	B	0.31790	0.34	B	0.27170	0.077	T	0.19778	-1.0295	10	0.12430	T	0.62	.	4.9681	0.14100	0.36:0.0:0.64:0.0	.	572	P32926	DSG3_HUMAN	H	572	ENSP00000257189:Q572H	ENSP00000257189:Q572H	Q	+	3	2	DSG3	27303129	0.851000	0.29673	0.026000	0.17262	0.016000	0.09150	0.864000	0.27926	1.391000	0.46566	0.655000	0.94253	CAG	DSG3	-	superfamily_Cadherin-like		0.522	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	G	NM_001944		29049131	+1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	0.082	C
DSG4	147409	genome.wustl.edu	37	18	28993427	28993427	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:28993427G>C	ENST00000308128.4	+	16	3127	c.2992G>C	c.(2992-2994)Ggg>Cgg	p.G998R	DSG4_ENST00000359747.4_Missense_Mutation_p.G1017R|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	998					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1017R(2)|p.G998R(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATTTTAGTAGGGCCAGAAAT	0.502																																																	4	Substitution - Missense(4)	cervix(2)|lung(2)											127.0	126.0	127.0					18																	28993427		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2992G>C	18.37:g.28993427G>C	ENSP00000311859:p.Gly998Arg		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.G1017R	ENST00000308128.4	37	c.3049	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292392	0.40594	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.71103	-0.43;-0.54	5.56	5.56	0.83823	.	0.000000	0.35436	N	0.003209	T	0.74023	0.3662	L	0.60455	1.87	0.34617	D	0.718191	D;B	0.58268	0.982;0.151	P;B	0.58660	0.843;0.032	T	0.76906	-0.2786	10	0.23891	T	0.37	.	7.5063	0.27547	0.0836:0.0:0.7499:0.1665	.	1017;998	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	R	998;1017	ENSP00000311859:G998R;ENSP00000352785:G1017R	ENSP00000311859:G998R	G	+	1	0	DSG4	27247425	0.796000	0.28864	1.000000	0.80357	0.923000	0.55619	1.802000	0.38853	2.603000	0.88011	0.591000	0.81541	GGG	DSG4	-	NULL		0.502	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	G	NM_177986		28993427	+1	no_errors	ENST00000359747	ensembl	human	known	70_37	missense	SNP	0.997	C
DSG3	1830	genome.wustl.edu	37	18	29054363	29054363	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:29054363C>T	ENST00000257189.4	+	15	2464	c.2381C>T	c.(2380-2382)tCt>tTt	p.S794F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	794					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S794F(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCCTACTTTTCTCAGGTAATT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											126.0	133.0	131.0					18																	29054363		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2381C>T	18.37:g.29054363C>T	ENSP00000257189:p.Ser794Phe		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.S794F	ENST00000257189.4	37	c.2381	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397217	0.83120	.	.	ENSG00000134757	ENST00000257189	T	0.60548	0.18	6.06	6.06	0.98353	.	0.000000	0.50627	D	0.000117	T	0.77948	0.4207	M	0.77313	2.365	0.43798	D	0.996345	D	0.89917	1.0	D	0.80764	0.994	T	0.78700	-0.2102	10	0.72032	D	0.01	.	18.8049	0.92032	0.0:1.0:0.0:0.0	.	794	P32926	DSG3_HUMAN	F	794	ENSP00000257189:S794F	ENSP00000257189:S794F	S	+	2	0	DSG3	27308361	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.182000	0.50910	2.879000	0.98667	0.650000	0.86243	TCT	DSG3	-	prints_Desmoglein		0.368	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	C	NM_001944		29054363	+1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	1.000	T
DSP	1832	genome.wustl.edu	37	6	7582905	7582905	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:7582905C>T	ENST00000379802.3	+	24	5751	c.5410C>T	c.(5410-5412)Cag>Tag	p.Q1804*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q1205*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1804	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Q1804*(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCAAAGAATCAGTGTACTCA	0.403																																																	1	Substitution - Nonsense(1)	cervix(1)											96.0	103.0	100.0					6																	7582905		2203	4300	6503	SO:0001587	stop_gained	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5410C>T	6.37:g.7582905C>T	ENSP00000369129:p.Gln1804*		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q1804*	ENST00000379802.3	37	c.5410	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	45	11.382026	0.99554	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	.	.	.	5.21	5.21	0.72293	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	13.7137	0.62682	0.154:0.846:0.0:0.0	.	.	.	.	X	1804;1205	.	ENSP00000369129:Q1804X	Q	+	1	0	DSP	7527904	0.967000	0.33354	0.943000	0.38184	0.339000	0.28857	2.207000	0.42788	2.415000	0.81967	0.655000	0.94253	CAG	DSP	-	NULL		0.403	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7582905	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	nonsense	SNP	0.987	T
DUS2	54920	genome.wustl.edu	37	16	68090294	68090294	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:68090294C>G	ENST00000565263.1	+	7	830	c.336C>G	c.(334-336)gtC>gtG	p.V112V	DUS2_ENST00000358896.6_Silent_p.V112V|AC130462.1_ENST00000408862.1_RNA|DUS2_ENST00000432752.1_Intron	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	112					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)	p.V112V(1)									GTATTGATGTCAACATGGGCT	0.368																																																	1	Substitution - coding silent(1)	cervix(1)											147.0	139.0	142.0					16																	68090294		2198	4300	6498	SO:0001819	synonymous_variant	54920				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.336C>G	16.37:g.68090294C>G			A8K3G3|Q4H4D9	Silent	SNP	pfam_tRNA_hU_synthase,pfam_Ds-RNA-bd,smart_Ds-RNA-bd	p.V112	ENST00000565263.1	37	c.336	CCDS10859.1	16																																																																																			DUS2L	-	pfam_tRNA_hU_synthase		0.368	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS2L	HGNC	protein_coding	OTTHUMT00000268869.2	C	NM_017803		68090294	+1	no_errors	ENST00000358896	ensembl	human	known	70_37	silent	SNP	0.999	G
DUSP27	92235	genome.wustl.edu	37	1	167097844	167097844	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:167097844G>C	ENST00000361200.2	+	6	3642	c.3476G>C	c.(3475-3477)tGa>tCa	p.*1159S	DUSP27_ENST00000271385.5_Nonstop_Mutation_p.*1159S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Nonstop_Mutation_p.*1159S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	0					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.*1159S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGGAGGACTGAGCTGGGGAA	0.522																																																	1	Nonstop extension(1)	cervix(1)											28.0	29.0	29.0					1																	167097844		2203	4300	6503	SO:0001578	stop_lost	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3476G>C	1.37:g.167097844G>C	ENSP00000354483:p.*1159Serext*43		A0AUM4|Q9C074	Nonstop_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.*1159S	ENST00000361200.2	37	c.3476	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	9.766	1.171283	0.21621	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.49	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7328	0.18049	0.1906:0.0:0.6138:0.1956	.	.	.	.	S	1159	.	.	X	+	2	2	DUSP27	165364468	0.769000	0.28531	0.531000	0.27976	0.309000	0.27889	0.715000	0.25822	0.551000	0.29008	0.549000	0.68633	TGA	DUSP27	-	NULL		0.522	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	G	NM_001080426		167097844	+1	no_errors	ENST00000271385	ensembl	human	known	70_37	nonstop	SNP	0.401	C
DYNC1LI2	1783	genome.wustl.edu	37	16	66764083	66764083	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:66764083delC	ENST00000258198.2	-	8	1179	c.973delG	c.(973-975)gaafs	p.E325fs	DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.E248fs|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000570201.1_5'UTR	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	325					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTAAAATTTTCATGTAAAATA	0.418																																																	0													78.0	75.0	76.0					16																	66764083		2199	4300	6499	SO:0001589	frameshift_variant	1783			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.973delG	16.37:g.66764083delC	ENSP00000258198:p.Glu325fs		A8K6V1|B4DZP4|Q8TAT3	Frame_Shift_Del	DEL	pfam_Dynein_light_int_chain	p.E325fs	ENST00000258198.2	37	c.973	CCDS10818.1	16																																																																																			DYNC1LI2	-	pfam_Dynein_light_int_chain		0.418	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	HGNC	protein_coding	OTTHUMT00000268846.1	C	NM_006141		66764083	-1	no_errors	ENST00000258198	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
DYRK1A	1859	genome.wustl.edu	37	21	38884574	38884574	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:38884574C>G	ENST00000398960.2	+	11	2107	c.2032C>G	c.(2032-2034)Cag>Gag	p.Q678E	DYRK1A_ENST00000339659.4_Missense_Mutation_p.Q669E|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q450E|DYRK1A_ENST00000338785.3_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	678					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.Q678E(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAAGGCAATCAGGCCTACCA	0.507																																					Melanoma(114;464 1602 31203 43785 45765)												1	Substitution - Missense(1)	cervix(1)											150.0	134.0	139.0					21																	38884574		2203	4300	6503	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.2032C>G	21.37:g.38884574C>G	ENSP00000381932:p.Gln678Glu		O60769|Q92582|Q92810|Q9UNM5	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.Q678E	ENST00000398960.2	37	c.2032	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405145	0.42613	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.56444	0.46;0.49;1.02	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	N	0.19112	0.55	0.80722	D	1	P;P	0.43578	0.713;0.811	P;P	0.54924	0.585;0.764	T	0.57568	-0.7789	10	0.51188	T	0.08	.	19.9093	0.97021	0.0:1.0:0.0:0.0	.	678;669	Q13627;Q13627-2	DYR1A_HUMAN;.	E	669;678;450	ENSP00000340373:Q669E;ENSP00000381932:Q678E;ENSP00000407854:Q450E	ENSP00000340373:Q669E	Q	+	1	0	DYRK1A	37806444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.713000	0.92767	0.655000	0.94253	CAG	DYRK1A	-	NULL		0.507	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	C	NM_001396		38884574	+1	no_errors	ENST00000398960	ensembl	human	known	70_37	missense	SNP	1.000	G
ECH1	1891	genome.wustl.edu	37	19	39306254	39306254	+	Silent	SNP	C	C	T	rs564889381	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:39306254C>T	ENST00000221418.4	-	10	1218	c.986G>A	c.(985-987)tGa>tAa	p.*329*	LGALS4_ENST00000307751.4_5'Flank|LGALS4_ENST00000597803.1_5'Flank	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	0					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)	p.*329*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CGAGGGCTCTCAGAGCTTGGA	0.592													C|||	4	0.000798722	0.0	0.0	5008	,	,		15051	0.0		0.0	False		,,,				2504	0.0041																1	Substitution - coding silent(1)	cervix(1)											99.0	78.0	85.0					19																	39306254		2203	4300	6503	SO:0001819	synonymous_variant	1891			U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"""enoyl Coenzyme A hydratase 1, peroxisomal"""			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.986G>A	19.37:g.39306254C>T			A8K745|Q8WVX0|Q96EZ9	Silent	SNP	pfam_Crotonase_core	p.*329	ENST00000221418.4	37	c.986	CCDS33014.1	19																																																																																			ECH1	-	NULL		0.592	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECH1	HGNC	protein_coding	OTTHUMT00000462650.1	C			39306254	-1	no_errors	ENST00000221418	ensembl	human	known	70_37	silent	SNP	0.997	T
EDC4	23644	genome.wustl.edu	37	16	67910814	67910814	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67910814G>C	ENST00000358933.5	+	4	629	c.390G>C	c.(388-390)caG>caC	p.Q130H	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	130					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q130H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACTGGGAACAGAAGTACTACT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											160.0	155.0	157.0					16																	67910814		2198	4300	6498	SO:0001583	missense	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.390G>C	16.37:g.67910814G>C	ENSP00000351811:p.Gln130His		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q130H	ENST00000358933.5	37	c.390	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714406	0.30413	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.42900	0.96	5.83	5.83	0.93111	WD40 repeat-like-containing domain (1);	0.058263	0.64402	D	0.000001	T	0.27419	0.0673	N	0.11023	0.085	0.50467	D	0.999871	B;B	0.10296	0.003;0.003	B;B	0.10450	0.003;0.005	T	0.11991	-1.0565	10	0.12766	T	0.61	-18.4954	19.7135	0.96105	0.0:0.0:1.0:0.0	.	62;130	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	H	130;62	ENSP00000351811:Q130H	ENSP00000351811:Q130H	Q	+	3	2	EDC4	66468315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.028000	0.49705	2.769000	0.95229	0.655000	0.94253	CAG	EDC4	-	superfamily_WD40_repeat_dom		0.507	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	G	NM_014329		67910814	+1	no_errors	ENST00000358933	ensembl	human	known	70_37	missense	SNP	1.000	C
EDEM2	55741	genome.wustl.edu	37	20	33706307	33706307	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:33706307G>C	ENST00000374492.3	-	10	1342				EDEM2_ENST00000540582.1_Missense_Mutation_p.Q403E|EDEM2_ENST00000374491.3_Intron|EDEM2_ENST00000541621.1_Intron|EDEM2_ENST00000542871.1_Intron|SNORD56_ENST00000364281.1_RNA	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2						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)			ttctagtgctgatatGTCAGA	0.448																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0																																										SO:0001627	intron_variant	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.1236+93C>G	20.37:g.33706307G>C			B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.Q403E	ENST00000374492.3	37	c.1207	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	G	6.895	0.534556	0.13188	.	.	ENSG00000088298	ENST00000540582	D	0.82167	-1.58	4.22	1.82	0.25136	.	.	.	.	.	T	0.75361	0.3839	.	.	.	0.09310	N	1	B	0.24533	0.105	B	0.28638	0.092	T	0.65985	-0.6035	8	0.87932	D	0	.	6.7008	0.23225	0.7744:0.0:0.2256:0.0	.	403	F5GZ44	.	E	403	ENSP00000441548:Q403E	ENSP00000441548:Q403E	Q	-	1	0	EDEM2	33169968	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.193000	0.09573	0.239000	0.21243	0.467000	0.42956	CAG	EDEM2	-	NULL		0.448	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	G	NM_018217		33706307	-1	no_errors	ENST00000540582	ensembl	human	known	70_37	missense	SNP	0.011	C
EDEM2	55741	genome.wustl.edu	37	20	33706316	33706316	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:33706316G>C	ENST00000374492.3	-	10	1342				EDEM2_ENST00000540582.1_Missense_Mutation_p.L400V|EDEM2_ENST00000374491.3_Intron|EDEM2_ENST00000541621.1_Intron|EDEM2_ENST00000542871.1_Intron|SNORD56_ENST00000364281.1_RNA	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2						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)			tgatatGTCAGAACTCCCAAA	0.453																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0																																										SO:0001627	intron_variant	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.1236+84C>G	20.37:g.33706316G>C			B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L400V	ENST00000374492.3	37	c.1198	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716386	0.30413	.	.	ENSG00000088298	ENST00000540582	D	0.82893	-1.66	4.35	3.38	0.38709	.	.	.	.	.	D	0.85796	0.5780	.	.	.	0.09310	N	1	P	0.49696	0.927	P	0.56563	0.801	T	0.75687	-0.3231	8	0.87932	D	0	.	7.2282	0.26028	0.204:0.0:0.796:0.0	.	400	F5GZ44	.	V	400	ENSP00000441548:L400V	ENSP00000441548:L400V	L	-	1	2	EDEM2	33169977	0.004000	0.15560	0.076000	0.20297	0.014000	0.08584	0.405000	0.21015	1.150000	0.42419	0.563000	0.77884	CTG	EDEM2	-	NULL		0.453	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	G	NM_018217		33706316	-1	no_errors	ENST00000540582	ensembl	human	known	70_37	missense	SNP	0.059	C
EDIL3	10085	genome.wustl.edu	37	5	83360566	83360566	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:83360566C>T	ENST00000296591.5	-	8	1323	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.R292Q	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	302	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.R302Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCAATGTCTTCGACAAACTTG	0.383																																																	1	Substitution - Missense(1)	cervix(1)											122.0	119.0	120.0					5																	83360566		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.905G>A	5.37:g.83360566C>T	ENSP00000296591:p.Arg302Gln		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R302Q	ENST00000296591.5	37	c.905	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.234549	0.95207	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98876	-5.2;-5.2	5.51	5.51	0.81932	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	L	0.41415	1.275	0.80722	D	1	P;D;D	0.76494	0.818;0.998;0.999	B;P;D	0.70935	0.325;0.811;0.971	D	0.98953	1.0795	10	0.40728	T	0.16	-15.5569	19.7788	0.96409	0.0:1.0:0.0:0.0	.	79;292;302	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	Q	302;292	ENSP00000296591:R302Q;ENSP00000369483:R292Q	ENSP00000296591:R302Q	R	-	2	0	EDIL3	83396322	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.421000	0.80204	2.749000	0.94314	0.460000	0.39030	CGA	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.383	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	C	NM_005711		83360566	-1	no_errors	ENST00000296591	ensembl	human	known	70_37	missense	SNP	1.000	T
EEF2	1938	genome.wustl.edu	37	19	3984340	3984340	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:3984340G>A	ENST00000309311.6	-	2	100	c.12C>T	c.(10-12)ttC>ttT	p.F4F	EEF2_ENST00000600720.1_5'UTR|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	4					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTACCGTGAAGTTCACCT	0.562																																					Colon(165;1804 1908 4071 6587 18799)												0													162.0	145.0	151.0					19																	3984340		2203	4300	6503	SO:0001819	synonymous_variant	1938			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.12C>T	19.37:g.3984340G>A			B2RMP5|D6W618|Q58J86	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.F4	ENST00000309311.6	37	c.12	CCDS12117.1	19																																																																																			EEF2	-	NULL		0.562	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	G	NM_001961		3984340	-1	no_errors	ENST00000309311	ensembl	human	known	70_37	silent	SNP	1.000	A
EFCAB3	146779	genome.wustl.edu	37	17	60491167	60491167	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:60491167G>C	ENST00000305286.3	+	9	1020	c.942G>C	c.(940-942)aaG>aaC	p.K314N	EFCAB3_ENST00000450662.2_Missense_Mutation_p.K366N	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	314							calcium ion binding (GO:0005509)	p.K314N(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAATGCTCAAGAAAAAGCAGA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											98.0	100.0	99.0					17																	60491167		2203	4300	6503	SO:0001583	missense	146779			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.942G>C	17.37:g.60491167G>C	ENSP00000302649:p.Lys314Asn		J3KQM8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.K366N	ENST00000305286.3	37	c.1098	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185252	0.38609	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.68765	-0.35;-0.3	5.05	5.05	0.67936	.	0.093202	0.46758	D	0.000267	T	0.65450	0.2692	L	0.59436	1.845	0.39912	D	0.974042	P	0.36733	0.567	B	0.39185	0.293	T	0.71833	-0.4473	10	0.87932	D	0	.	13.767	0.63002	0.0:0.0:1.0:0.0	.	314	Q8N7B9	EFCB3_HUMAN	N	366;314	ENSP00000403932:K366N;ENSP00000302649:K314N	ENSP00000302649:K314N	K	+	3	2	EFCAB3	57844899	1.000000	0.71417	0.995000	0.50966	0.030000	0.12068	1.882000	0.39648	2.625000	0.88918	0.557000	0.71058	AAG	EFCAB3	-	NULL		0.363	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	HGNC	protein_coding	OTTHUMT00000379114.1	G	NM_173503		60491167	+1	no_errors	ENST00000450662	ensembl	human	known	70_37	missense	SNP	1.000	C
EFCAB6	64800	genome.wustl.edu	37	22	44112776	44112776	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:44112776G>C	ENST00000262726.7	-	9	1087	c.834C>G	c.(832-834)atC>atG	p.I278M	EFCAB6_ENST00000356087.4_Missense_Mutation_p.I172M|EFCAB6_ENST00000358439.4_Missense_Mutation_p.I172M|EFCAB6_ENST00000396231.2_Missense_Mutation_p.I126M	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.I278M(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGTTTCTCCAGATATCTTCAG	0.388																																																	1	Substitution - Missense(1)	cervix(1)											124.0	113.0	117.0					22																	44112776		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.834C>G	22.37:g.44112776G>C	ENSP00000262726:p.Ile278Met		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I278M	ENST00000262726.7	37	c.834	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	5.727	0.318578	0.10845	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.36699	2.45;2.45;1.42;1.24	4.45	2.29	0.28610	.	2.611370	0.01299	N	0.010242	T	0.31979	0.0814	L	0.34521	1.04	0.09310	N	0.999998	B;P;P;B	0.41569	0.189;0.755;0.493;0.148	B;B;B;B	0.42386	0.206;0.386;0.337;0.129	T	0.17715	-1.0360	10	0.22706	T	0.39	-0.5003	6.1577	0.20346	0.1029:0.1893:0.7078:0.0	.	172;172;278;278	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	M	126;278;172;172	ENSP00000379533:I126M;ENSP00000262726:I278M;ENSP00000351219:I172M;ENSP00000348391:I172M	ENSP00000262726:I278M	I	-	3	3	EFCAB6	42444109	0.033000	0.19621	0.404000	0.26397	0.005000	0.04900	0.335000	0.19806	0.581000	0.29539	0.585000	0.79938	ATC	EFCAB6	-	NULL		0.388	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	G	NM_022785		44112776	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	missense	SNP	0.602	C
EFTUD1	79631	genome.wustl.edu	37	15	82533678	82533678	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:82533678G>C	ENST00000268206.7	-	5	479	c.311C>G	c.(310-312)tCa>tGa	p.S104*	EFTUD1_ENST00000359445.3_Nonsense_Mutation_p.S53*	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	104	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.S104*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AACAGCGGTTGATACTTCTGA	0.403																																																	1	Substitution - Nonsense(1)	cervix(1)											88.0	79.0	82.0					15																	82533678		1923	4131	6054	SO:0001587	stop_gained	79631			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.311C>G	15.37:g.82533678G>C	ENSP00000268206:p.Ser104*		A6NKY5|B7Z6I0|Q9H8Z6	Nonsense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.S104*	ENST00000268206.7	37	c.311	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256715	0.80246	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	.	.	.	4.31	4.31	0.51392	.	0.000000	0.50627	U	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.4882	16.302	0.82825	0.0:0.0:1.0:0.0	.	.	.	.	X	104;53	.	ENSP00000268206:S104X	S	-	2	0	EFTUD1	80320733	1.000000	0.71417	0.111000	0.21465	0.963000	0.63663	9.364000	0.97136	2.376000	0.81061	0.404000	0.27445	TCA	EFTUD1	-	pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom		0.403	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1	G	NM_024580		82533678	-1	no_errors	ENST00000268206	ensembl	human	known	70_37	nonsense	SNP	0.995	C
EGFR	1956	genome.wustl.edu	37	7	55240568	55240568	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:55240568C>T	ENST00000275493.2	+	17	2096				EGFR_ENST00000454757.2_Intron|EGFR_ENST00000442591.1_Missense_Mutation_p.S650L|EGFR_ENST00000455089.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor						activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TTTCCAAGATCATTCTACAAG	0.483		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0																																										SO:0001627	intron_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1920-108C>T	7.37:g.55240568C>T			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat	p.S650L	ENST00000275493.2	37	c.1949	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	7.847	0.723157	0.15439	.	.	ENSG00000146648	ENST00000442591	T	0.79653	-1.29	4.04	-8.08	0.01094	.	.	.	.	.	T	0.76076	0.3937	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.74106	-0.3772	6	0.54805	T	0.06	.	10.992	0.47555	0.1127:0.5449:0.3423:0.0	.	.	.	.	L	650	ENSP00000410031:S650L	ENSP00000410031:S650L	S	+	2	0	EGFR	55208062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.862000	0.00725	-3.439000	0.00163	-1.107000	0.02091	TCA	EGFR	-	smart_Furin_repeat		0.483	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55240568	+1	no_errors	ENST00000442591	ensembl	human	known	70_37	missense	SNP	0.000	T
EHF	26298	genome.wustl.edu	37	11	34668238	34668238	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:34668238C>T	ENST00000527935.1	+	2	354	c.350C>T	c.(349-351)tCt>tTt	p.S117F	EHF_ENST00000531794.1_Intron|EHF_ENST00000450654.2_Intron|EHF_ENST00000530286.1_Intron|EHF_ENST00000531728.1_Missense_Mutation_p.S117F|EHF_ENST00000533754.1_Intron|EHF_ENST00000257831.3_Intron					ets homologous factor									p.?(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			AACGGTGACTCTCTCTTTCTG	0.547																																																	1	Unknown(1)	cervix(1)											92.0	92.0	92.0					11																	34668238		2202	4298	6500	SO:0001583	missense	26298			AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000527935.1:c.350C>T	11.37:g.34668238C>T	ENSP00000436158:p.Ser117Phe			Missense_Mutation	SNP	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom	p.S117F	ENST00000527935.1	37	c.350		11	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020210	0.54576	.	.	ENSG00000135373	ENST00000531728;ENST00000527935	T;T	0.32753	1.44;1.44	3.79	-5.97	0.02227	.	.	.	.	.	T	0.19565	0.0470	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31916	-0.9926	5	.	.	.	.	7.9895	0.30231	0.2232:0.5871:0.1898:0.0	.	.	.	.	F	117	ENSP00000436357:S117F;ENSP00000436158:S117F	.	S	+	2	0	EHF	34624814	0.007000	0.16637	0.057000	0.19452	0.909000	0.53808	-1.080000	0.03407	-1.336000	0.02238	-0.425000	0.05940	TCT	EHF	-	superfamily_SAM/pointed		0.547	EHF-012	PUTATIVE	basic	protein_coding	EHF	HGNC	protein_coding	OTTHUMT00000389862.1	C	NM_012153		34668238	+1	no_errors	ENST00000527935	ensembl	human	putative	70_37	missense	SNP	0.059	T
EIF2A	83939	genome.wustl.edu	37	3	150293454	150293454	+	Nonsense_Mutation	SNP	C	C	T	rs77894044		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:150293454C>T	ENST00000460851.1	+	11	1511	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*	EIF2A_ENST00000482471.1_Intron|SERP1_ENST00000490945.1_Intron|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Nonsense_Mutation_p.Q407*|EIF2A_ENST00000487799.1_Nonsense_Mutation_p.Q443*|EIF2A_ENST00000383043.3_Nonsense_Mutation_p.Q254*|EIF2A_ENST00000273435.5_Nonsense_Mutation_p.Q463*			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	468					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.Q443*(1)|p.Q468*(1)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAACCACCTCAGAATATGAA	0.338																																																	2	Substitution - Nonsense(2)	cervix(2)											66.0	60.0	62.0					3																	150293454		1826	4078	5904	SO:0001587	stop_gained	83939			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1402C>T	3.37:g.150293454C>T	ENSP00000417229:p.Gln468*		A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Nonsense_Mutation	SNP	pfam_TIF2A_beta_prop-like,pirsf_TIF2A	p.Q468*	ENST00000460851.1	37	c.1402	CCDS46935.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.654536	0.98415	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-11.5647	19.5529	0.95328	0.0:1.0:0.0:0.0	.	.	.	.	X	443;468;407;463;254	.	ENSP00000273435:Q463X	Q	+	1	0	EIF2A	151776144	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.002000	0.76304	2.621000	0.88768	0.655000	0.94253	CAG	EIF2A	-	pirsf_TIF2A		0.338	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2A	HGNC	protein_coding	OTTHUMT00000357259.2	C	NM_032025		150293454	+1	no_errors	ENST00000460851	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EIF2B5	8893	genome.wustl.edu	37	3	183858264	183858264	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:183858264C>G	ENST00000273783.3	+	7	1024	c.902C>G	c.(901-903)tCc>tGc	p.S301C	EIF2B5_ENST00000444495.1_Missense_Mutation_p.S301C	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	301					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.S301C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCGTGTCTCCAACCTACAC	0.532																																																	1	Substitution - Missense(1)	cervix(1)											277.0	260.0	266.0					3																	183858264		2203	4300	6503	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.902C>G	3.37:g.183858264C>G	ENSP00000273783:p.Ser301Cys		Q541Z1|Q96D04	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain	p.S301C	ENST00000273783.3	37	c.902	CCDS3252.1	3	.	.	.	.	.	.	.	.	.	.	c	17.24	3.340402	0.60963	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.96232	-3.95;-3.95	5.8	5.8	0.92144	Trimeric LpxA-like (1);	0.154940	0.64402	D	0.000015	D	0.94159	0.8126	L	0.52573	1.65	0.54753	D	0.999989	B;B	0.28783	0.022;0.222	B;B	0.22880	0.02;0.042	D	0.91980	0.5594	10	0.45353	T	0.12	.	16.5309	0.84359	0.0:0.8609:0.1391:0.0	.	301;301	E9PC74;Q13144	.;EI2BE_HUMAN	C	301;301;57	ENSP00000273783:S301C;ENSP00000409142:S301C	ENSP00000273783:S301C	S	+	2	0	EIF2B5	185340958	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.032000	0.70918	2.746000	0.94184	0.563000	0.77884	TCC	EIF2B5	-	superfamily_Trimer_LpxA-like		0.532	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1	C			183858264	+1	no_errors	ENST00000273783	ensembl	human	known	70_37	missense	SNP	1.000	G
AGO4	192670	genome.wustl.edu	37	1	36297506	36297506	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:36297506G>A	ENST00000373210.3	+	9	1335	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	364					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.D364N(1)									ATCTGCTCCTGACAGACAGGA	0.433																																																	1	Substitution - Missense(1)	cervix(1)											80.0	80.0	80.0					1																	36297506		2203	4300	6503	SO:0001583	missense	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1090G>A	1.37:g.36297506G>A	ENSP00000362306:p.Asp364Asn		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.D364N	ENST00000373210.3	37	c.1090	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454033	0.84209	.	.	ENSG00000134698	ENST00000373210	T	0.10099	2.91	5.1	5.1	0.69264	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	M	0.92026	3.265	0.80722	D	1	B	0.19935	0.04	B	0.24006	0.05	T	0.06144	-1.0843	10	0.54805	T	0.06	-15.7851	14.2166	0.65797	0.0744:0.0:0.9256:0.0	.	364	Q9HCK5	AGO4_HUMAN	N	364	ENSP00000362306:D364N	ENSP00000362306:D364N	D	+	1	0	EIF2C4	36070093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.787000	0.99055	2.526000	0.85167	0.655000	0.94253	GAC	EIF2C4	-	superfamily_PAZ		0.433	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C4	HGNC	protein_coding	OTTHUMT00000012213.3	G	NM_017629		36297506	+1	no_errors	ENST00000373210	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF2S1	1965	genome.wustl.edu	37	14	67850119	67850119	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:67850119G>C	ENST00000256383.4	+	8	1371	c.910G>C	c.(910-912)Gat>Cat	p.D304H	EIF2S1_ENST00000466499.2_Missense_Mutation_p.D304H	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	304					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)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.D304H(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		GGATGGAGATGATGATGCAGA	0.463																																																	1	Substitution - Missense(1)	cervix(1)											98.0	86.0	90.0					14																	67850119		2203	4300	6503	SO:0001583	missense	1965			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.910G>C	14.37:g.67850119G>C	ENSP00000256383:p.Asp304His			Missense_Mutation	SNP	pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D304H	ENST00000256383.4	37	c.910	CCDS9781.1	14	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703003	0.68501	.	.	ENSG00000134001	ENST00000256383;ENST00000466499	.	.	.	6.16	5.28	0.74379	Translation initiation factor 2, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67382	0.2887	M	0.80508	2.5	0.80722	D	1	B	0.32693	0.38	B	0.34991	0.193	T	0.71024	-0.4712	9	0.72032	D	0.01	-22.7769	15.5347	0.75993	0.0656:0.0:0.9344:0.0	.	304	P05198	IF2A_HUMAN	H	304	.	ENSP00000256383:D304H	D	+	1	0	EIF2S1	66919872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	1.631000	0.50456	0.650000	0.86243	GAT	EIF2S1	-	NULL		0.463	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S1	HGNC	protein_coding	OTTHUMT00000074342.3	G	NM_004094		67850119	+1	no_errors	ENST00000256383	ensembl	human	known	70_37	missense	SNP	1.000	C
EIF3A	8661	genome.wustl.edu	37	10	120819416	120819416	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:120819416C>G	ENST00000369144.3	-	10	1454				SNORA19_ENST00000384737.1_RNA|SNORA19_ENST00000410656.1_RNA|EIF3A_ENST00000541549.1_Intron	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A						mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GAACCATTATCATACTATTCC	0.328																																																	0																																										SO:0001627	intron_variant	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1327-186G>C	10.37:g.120819416C>G			B7ZBG9|Q6IBN8|Q96TD5	RNA	SNP	-	NULL	ENST00000369144.3	37	NULL	CCDS7608.1	10																																																																																			EIF3A	-	-		0.328	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	C	NM_003750		120819416	-1	no_errors	ENST00000462527	ensembl	human	known	70_37	rna	SNP	0.000	G
EIF3I	8668	genome.wustl.edu	37	1	32696563	32696563	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:32696563G>C	ENST00000373586.1	+	10	911	c.839G>C	c.(838-840)aGa>aCa	p.R280T	MTMR9LP_ENST00000441044.1_RNA	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I									p.R280T(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GAGTTTGGAAGAGTCAAGGGT	0.473																																					Colon(102;1138 2140 2180 17876)												1	Substitution - Missense(1)	cervix(1)											109.0	105.0	107.0					1																	32696563		2203	4300	6503	SO:0001583	missense	8668			U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.839G>C	1.37:g.32696563G>C	ENSP00000362688:p.Arg280Thr			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R280T	ENST00000373586.1	37	c.839	CCDS357.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809072	0.90707	.	.	ENSG00000084623	ENST00000373586	T	0.79554	-1.28	4.44	4.44	0.53790	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	N	0.02011	-0.69	0.80722	D	1	P	0.46859	0.885	P	0.53760	0.734	T	0.77905	-0.2413	10	0.37606	T	0.19	-19.8081	17.4174	0.87504	0.0:0.0:1.0:0.0	.	280	Q13347	EIF3I_HUMAN	T	280	ENSP00000362688:R280T	ENSP00000362688:R280T	R	+	2	0	EIF3I	32469150	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.689000	0.98673	2.194000	0.70268	0.491000	0.48974	AGA	EIF3I	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.473	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3I	HGNC	protein_coding	OTTHUMT00000019282.2	G	NM_003757		32696563	+1	no_errors	ENST00000373586	ensembl	human	known	70_37	missense	SNP	1.000	C
EIF4G1	1981	genome.wustl.edu	37	3	184040704	184040704	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:184040704G>A	ENST00000346169.2	+	13	2162	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K	EIF4G1_ENST00000434061.2_Missense_Mutation_p.E435K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E638K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E544K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E631K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E435K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E467K|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E544K|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E631K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E467K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E638K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E591K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E591K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E638K	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	631	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E631K(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGAAGCCAGAGGGATTGCC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											200.0	188.0	192.0					3																	184040704		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1891G>A	3.37:g.184040704G>A	ENSP00000316879:p.Glu631Lys		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E638K	ENST00000346169.2	37	c.1912	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247894	0.80024	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.81802	2.56	0.80722	D	1	D;P;P;P	0.53151	0.958;0.864;0.864;0.928	P;P;P;P	0.53809	0.735;0.515;0.515;0.515	T	0.72887	-0.4156	10	0.59425	D	0.04	-21.3051	19.3711	0.94488	0.0:0.0:1.0:0.0	.	638;631;631;638	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	K	631;591;544;631;638;638;572;467;638;544;631;631;638;591;467;467;435;435	ENSP00000316879:E631K;ENSP00000391935:E591K;ENSP00000376320:E544K;ENSP00000391412:E631K;ENSP00000413159:E638K;ENSP00000371767:E638K;ENSP00000403269:E572K;ENSP00000317600:E467K;ENSP00000338020:E638K;ENSP00000407682:E544K;ENSP00000343450:E631K;ENSP00000323737:E631K;ENSP00000416255:E638K;ENSP00000395974:E591K;ENSP00000398145:E467K;ENSP00000399858:E467K;ENSP00000411826:E435K;ENSP00000404754:E435K	ENSP00000323737:E631K	E	+	1	0	EIF4G1	185523398	1.000000	0.71417	0.984000	0.44739	0.913000	0.54294	9.263000	0.95617	2.814000	0.96858	0.563000	0.77884	GAG	EIF4G1	-	NULL		0.502	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	G	NM_182917		184040704	+1	no_errors	ENST00000352767	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF4G1	1981	genome.wustl.edu	37	3	184040742	184040742	+	Splice_Site	SNP	G	G	C	rs11559213		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:184040742G>C	ENST00000346169.2	+	13	2200	c.1929G>C	c.(1927-1929)aaG>aaC	p.K643N	EIF4G1_ENST00000434061.2_Splice_Site_p.K447N|EIF4G1_ENST00000352767.3_Splice_Site_p.K650N|EIF4G1_ENST00000392537.2_Splice_Site_p.K556N|EIF4G1_ENST00000319274.6_Splice_Site_p.K643N|EIF4G1_ENST00000435046.2_Splice_Site_p.K447N|EIF4G1_ENST00000350481.5_Splice_Site_p.K479N|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000427845.1_Splice_Site_p.K556N|EIF4G1_ENST00000342981.4_Splice_Site_p.K643N|EIF4G1_ENST00000441154.1_Splice_Site_p.K479N|EIF4G1_ENST00000382330.3_Splice_Site_p.K650N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Splice_Site_p.K603N|EIF4G1_ENST00000414031.1_Splice_Site_p.K603N|EIF4G1_ENST00000424196.1_Splice_Site_p.K650N	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	643	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.K643N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTGGACAAGGTTAGTGGCT	0.517																																																	1	Substitution - Missense(1)	cervix(1)											186.0	177.0	180.0					3																	184040742		2203	4300	6503	SO:0001630	splice_region_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1929+1G>C	3.37:g.184040742G>C			D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.K650N	ENST00000346169.2	37	c.1950	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328491	0.81690	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;0.999	D;D;D;D	0.91635	0.999;0.954;0.954;0.954	T	0.60772	-0.7197	10	0.40728	T	0.16	-23.5695	19.3711	0.94488	0.0:0.0:1.0:0.0	.	650;643;643;650	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	N	643;603;556;643;650;650;584;479;650;556;643;643;650;603;479;479;447;447	ENSP00000316879:K643N;ENSP00000391935:K603N;ENSP00000376320:K556N;ENSP00000391412:K643N;ENSP00000413159:K650N;ENSP00000371767:K650N;ENSP00000403269:K584N;ENSP00000317600:K479N;ENSP00000338020:K650N;ENSP00000407682:K556N;ENSP00000343450:K643N;ENSP00000323737:K643N;ENSP00000416255:K650N;ENSP00000395974:K603N;ENSP00000398145:K479N;ENSP00000399858:K479N;ENSP00000411826:K447N;ENSP00000404754:K447N	ENSP00000323737:K643N	K	+	3	2	EIF4G1	185523436	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.263000	0.95617	2.814000	0.96858	0.563000	0.77884	AAG	EIF4G1	-	NULL		0.517	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	G	NM_182917	Missense_Mutation	184040742	+1	no_errors	ENST00000352767	ensembl	human	known	70_37	missense	SNP	1.000	C
ELL3	80237	genome.wustl.edu	37	15	44068050	44068050	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:44068050G>A	ENST00000319359.3	-	4	994	c.353C>T	c.(352-354)tCt>tTt	p.S118F	RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000381359.1_5'Flank|ELL3_ENST00000497465.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	118					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)	p.S118F(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GGCTGGGATAGAATCCATGGC	0.522											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											82.0	78.0	79.0					15																	44068050		2198	4298	6496	SO:0001583	missense	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.353C>T	15.37:g.44068050G>A	ENSP00000320346:p.Ser118Phe	921	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.S118F	ENST00000319359.3	37	c.353	CCDS10102.1	15	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701406	0.68501	.	.	ENSG00000128886	ENST00000319359;ENST00000433927	T;T	0.43688	0.94;0.94	5.67	4.75	0.60458	.	0.357125	0.24396	N	0.038882	T	0.42337	0.1198	M	0.72118	2.19	0.34644	D	0.720969	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.15052	0.012;0.012;0.012	T	0.53947	-0.8366	10	0.54805	T	0.06	-21.5643	10.9279	0.47201	0.0883:0.0:0.9117:0.0	.	118;118;72	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	F	118;148	ENSP00000320346:S118F;ENSP00000404209:S148F	ENSP00000320346:S118F	S	-	2	0	ELL3	41855342	0.996000	0.38824	0.951000	0.38953	0.898000	0.52572	2.895000	0.48648	2.676000	0.91093	0.655000	0.94253	TCT	ELL3	-	pfam_RNA_pol_II_elong_fac_ELL		0.522	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	HGNC	protein_coding	OTTHUMT00000133236.2	G	NM_025165		44068050	-1	no_errors	ENST00000319359	ensembl	human	known	70_37	missense	SNP	0.924	A
E2F4	1874	genome.wustl.edu	37	16	67235753	67235753	+	IGR	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67235753G>C	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Missense_Mutation_p.E396Q|ELMO3_ENST00000477898.1_Missense_Mutation_p.E230Q|ELMO3_ENST00000360833.1_Missense_Mutation_p.E379Q|MIR328_ENST00000385213.1_RNA	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|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 proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|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)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E396Q(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CTGTGCCCGAGAGTTCCGCAA	0.652																																																	1	Substitution - Missense(1)	cervix(1)											66.0	76.0	73.0					16																	67235753		2034	4198	6232	SO:0001628	intergenic_variant	79767			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67235753G>C			A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E396Q	ENST00000379378.3	37	c.1186	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737679	0.89573	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.28895	1.59;1.59	5.55	4.59	0.56863	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.50086	0.1595	L	0.49640	1.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.52749	-0.8534	10	0.72032	D	0.01	-22.6089	15.1296	0.72511	0.0:0.1421:0.8579:0.0	.	343;379;396	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	Q	379;396	ENSP00000354077:E379Q;ENSP00000377566:E396Q	ENSP00000354077:E379Q	E	+	1	0	ELMO3	65793254	1.000000	0.71417	0.989000	0.46669	0.930000	0.56654	9.432000	0.97498	1.337000	0.45525	0.561000	0.74099	GAG	ELMO3	-	pfam_Engulfment_cell_motility_ELMO		0.652	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ELMO3	HGNC	protein_coding	OTTHUMT00000421565.1	G	NM_001950		67235753	+1	no_errors	ENST00000393997	ensembl	human	known	70_37	missense	SNP	1.000	C
EMR1	2015	genome.wustl.edu	37	19	6908765	6908765	+	Silent	SNP	G	G	C	rs141178599	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:6908765G>C	ENST00000312053.4	+	10	1141	c.1104G>C	c.(1102-1104)acG>acC	p.T368T	EMR1_ENST00000250572.8_Silent_p.T368T|EMR1_ENST00000381404.4_Silent_p.T316T|EMR1_ENST00000381407.5_Silent_p.T227T|EMR1_ENST00000450315.3_Silent_p.T191T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	368	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AAAATAAAACGACCGTAGTTT	0.383																																																	0													118.0	124.0	122.0					19																	6908765		2203	4300	6503	SO:0001819	synonymous_variant	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1104G>C	19.37:g.6908765G>C			A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.T368	ENST00000312053.4	37	c.1104	CCDS12175.1	19																																																																																			EMR1	-	NULL		0.383	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	G			6908765	+1	no_errors	ENST00000312053	ensembl	human	known	70_37	silent	SNP	0.000	C
ENG	2022	genome.wustl.edu	37	9	130605495	130605495	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:130605495G>A	ENST00000373203.4	-	2	497	c.97C>T	c.(97-99)Cag>Tag	p.Q33*	ENG_ENST00000344849.3_Nonsense_Mutation_p.Q33*|RNA5SP296_ENST00000410523.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	33	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)	p.Q33*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CCCACAGGCTGAAGGTCACAA	0.542									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																																								1	Substitution - Nonsense(1)	cervix(1)	GRCh37	CM060981	ENG	M							91.0	94.0	93.0					9																	130605495		2203	4300	6503	SO:0001587	stop_gained	2022	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.97C>T	9.37:g.130605495G>A	ENSP00000362299:p.Gln33*		Q14248|Q14926|Q5T9C0	Nonsense_Mutation	SNP	pfam_ZP_dom	p.Q33*	ENST00000373203.4	37	c.97	CCDS48029.1	9	.	.	.	.	.	.	.	.	.	.	g	38	7.178159	0.98118	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345	.	.	.	5.12	3.09	0.35607	.	0.261790	0.27109	N	0.020883	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-15.301	12.6088	0.56540	0.0:0.3397:0.6603:0.0	.	.	.	.	X	33	.	ENSP00000341917:Q33X	Q	-	1	0	ENG	129645316	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	1.928000	0.40104	1.112000	0.41740	0.561000	0.74099	CAG	ENG	-	NULL		0.542	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENG	HGNC	protein_coding	OTTHUMT00000054313.1	G			130605495	-1	no_errors	ENST00000373203	ensembl	human	known	70_37	nonsense	SNP	0.993	A
ENOSF1	55556	genome.wustl.edu	37	18	674174	674174	+	3'UTR	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:674174G>A	ENST00000251101.7	-	0	1551				ENOSF1_ENST00000319815.6_3'UTR|ENOSF1_ENST00000580982.1_3'UTR|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000340116.7_3'UTR|ENOSF1_ENST00000383578.3_3'UTR	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1						cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GCTGATTCCTGAGGGTGGTAT	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	55556			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.*131C>T	18.37:g.674174G>A			A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	RNA	SNP	-	NULL	ENST00000251101.7	37	NULL	CCDS11822.1	18																																																																																			ENOSF1	-	-		0.318	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOSF1	HGNC	protein_coding	OTTHUMT00000254312.2	G	NM_017512		674174	-1	no_errors	ENST00000583973	ensembl	human	known	70_37	rna	SNP	0.000	A
TVP23C	201158	genome.wustl.edu	37	17	15469463	15469463	+	5'Flank	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:15469463G>C	ENST00000225576.3	-	0	0				TVP23C_ENST00000519970.1_5'Flank|TVP23C_ENST00000518321.1_5'Flank|TVP23C_ENST00000428082.2_5'Flank|TVP23C_ENST00000438826.3_5'Flank|CDRT1_ENST00000312127.2_Nonsense_Mutation_p.S39*|TVP23C-CDRT4_ENST00000522212.2_5'Flank|TVP23C_ENST00000584811.1_5'Flank	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											GTATGAAATTGAAGGTCCCCA	0.468																																																	0																																										SO:0001631	upstream_gene_variant	0			BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461		17.37:g.15469463G>C	Exception_encountered		Q3LIC7	Nonsense_Mutation	SNP	NULL	p.S39*	ENST00000225576.3	37	c.116	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	.	14.80	2.644160	0.47258	.	.	ENSG00000181464	ENST00000312127	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.6149	0.51083	0.0:0.0:0.8216:0.1784	.	.	.	.	X	39	.	ENSP00000385268:S39X	S	-	2	0	AC005838.1	15410188	0.969000	0.33509	0.988000	0.46212	0.123000	0.20343	2.669000	0.46825	2.240000	0.73641	0.549000	0.68633	TCA	CDRT1	-	NULL		0.468	TVP23C-001	KNOWN	basic|CCDS	protein_coding	ENSG00000181464	Uniprot_genename	protein_coding	OTTHUMT00000130705.2	G	NM_145301		15469463	-1	no_errors	ENST00000312127	ensembl	human	known	70_37	nonsense	SNP	0.983	C
SNORA24	677809	genome.wustl.edu	37	3	128433441	128433441	+	RNA	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:128433441G>A	ENST00000384401.1	-	0	107									small nucleolar RNA, H/ACA box 24																		GTCAGAATCTGATACCAATGA	0.403																																																	0																																												0			AJ609460		4q26	2013-09-05			ENSG00000206823	ENSG00000275994		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32614	non-coding RNA	RNA, small nucleolar						15199136, 16381836	Standard	NR_002963		Approved	ACA24	uc031sbs.1				3.37:g.128433441G>A				RNA	SNP	-	NULL	ENST00000384401.1	37	NULL		3																																																																																			SNORA24	-	-		0.403	SNORA24.2-201	NOVEL	basic	snoRNA	ENSG00000207130	RFAM	snoRNA		G	NR_002963		128433441	-1	no_errors	ENST00000384401	ensembl	human	novel	70_37	rna	SNP	1.000	A
FCRL3	115352	genome.wustl.edu	37	1	157666171	157666171	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:157666171C>T	ENST00000368184.3	-	7	1136				RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Intron	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACATCAAGGTCAAGGGGAAGG	0.502																																																	0																																										SO:0001627	intron_variant	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.845-54G>A	1.37:g.157666171C>T			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	RNA	SNP	-	NULL	ENST00000368184.3	37	NULL	CCDS1167.1	1																																																																																			RP11-367J7.3	-	-		0.502	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000227217	Clone_based_vega_gene	protein_coding	OTTHUMT00000051419.2	C	NM_052939		157666171	+1	no_errors	ENST00000453692	ensembl	human	known	70_37	rna	SNP	0.000	T
KIAA1614	57710	genome.wustl.edu	37	1	180913468	180913468	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:180913468C>G	ENST00000367588.4	+	8	3214				RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000461346.1_Intron|KIAA1614_ENST00000367587.1_Intron	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614											NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCAAGTCCTCTGTCAGCACC	0.498																																																	0																																										SO:0001627	intron_variant	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3160-57C>G	1.37:g.180913468C>G			Q5VZ45|Q9HCF8	RNA	SNP	-	NULL	ENST00000367588.4	37	NULL	CCDS41442.1	1																																																																																			RP11-46A10.5	-	-		0.498	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000243155	Clone_based_vega_gene	protein_coding	OTTHUMT00000085151.1	C	XM_046531		180913468	-1	no_errors	ENST00000358073	ensembl	human	known	70_37	rna	SNP	0.000	G
Unknown	0	genome.wustl.edu	37	4	3919560	3919560	+	IGR	SNP	C	C	T	rs571324269		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:3919560C>T								ADRA2C (149309 upstream) : FAM86EP (23926 downstream)																							TATTCACCATCTTTCTGCTTC	0.378																																																	0																																										SO:0001628	intergenic_variant	0																															4.37:g.3919560C>T				RNA	SNP	-	NULL		37	NULL		4																																																																																			AC226119.4	-	-	0	0.378					ENSG00000253917	Clone_based_vega_gene			C			3919560	-1	no_errors	ENST00000514073	ensembl	human	known	70_37	rna	SNP	1.000	T
PRKAG1	5571	genome.wustl.edu	37	12	49412512	49412512	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:49412512C>T	ENST00000548065.1	-	1	466				RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_5'UTR|PRKAG1_ENST00000547306.1_Intron|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Intron|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Intron			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit						cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.?(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	CTGCACTCCTCACCGTCTCCA	0.682																																																	1	Unknown(1)	cervix(1)											45.0	52.0	49.0					12																	49412512		2203	4300	6503	SO:0001627	intron_variant	0			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.9+2G>A	12.37:g.49412512C>T			B4DDT7|Q8N7V9	RNA	SNP	-	NULL	ENST00000548065.1	37	NULL	CCDS8777.1	12																																																																																			RP11-386G11.5	-	-		0.682	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257913	Clone_based_vega_gene	protein_coding	OTTHUMT00000408946.1	C	NM_002733		49412512	+1	no_errors	ENST00000547866	ensembl	human	known	70_37	rna	SNP	1.000	T
SRRM4	84530	genome.wustl.edu	37	12	119554728	119554728	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:119554728C>G	ENST00000267260.4	+	4	753				RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4						cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AATGTGTCTTCTTGGCCCTGG	0.458																																																	0													81.0	72.0	75.0					12																	119554728		1861	4106	5967	SO:0001627	intron_variant	0			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.366-14C>G	12.37:g.119554728C>G			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	RNA	SNP	-	NULL	ENST00000267260.4	37	NULL	CCDS44994.1	12																																																																																			RP11-364C11.2	-	-		0.458	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257095	Clone_based_vega_gene	protein_coding	OTTHUMT00000401640.2	C	NM_194286		119554728	-1	no_errors	ENST00000537730	ensembl	human	known	70_37	rna	SNP	0.000	G
SLC28A2	9153	genome.wustl.edu	37	15	45545733	45545733	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:45545733G>C	ENST00000347644.3	+	3	235				CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000559003.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TGGTGTTTTGGAATCTTGTTC	0.502																																					NSCLC(92;493 1501 26361 28917 47116)												0													56.0	52.0	53.0					15																	45545733		2198	4298	6496	SO:0001627	intron_variant	0			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.170+15G>C	15.37:g.45545733G>C			A8K7F9|O43239|Q52LZ0	RNA	SNP	-	NULL	ENST00000347644.3	37	NULL	CCDS10121.1	15																																																																																			CTD-2651B20.3	-	-		0.502	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259520	Clone_based_vega_gene	protein_coding	OTTHUMT00000254219.2	G	NM_004212		45545733	-1	no_errors	ENST00000560344	ensembl	human	known	70_37	rna	SNP	0.000	C
CARD14	79092	genome.wustl.edu	37	17	78175927	78175927	+	Intron	SNP	C	C	T	rs375862251	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:78175927C>T	ENST00000573882.1	+	17	2514				RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000570421.1_Intron|RP11-334C17.5_ENST00000576824.1_RNA|CARD14_ENST00000344227.2_Intron|RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000392434.2_Intron|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14						activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAACCTTCCTCGCAGAGGCTC	0.547																																																	0													99.0	103.0	102.0					17																	78175927		876	1991	2867	SO:0001627	intron_variant	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1979-52C>T	17.37:g.78175927C>T			B8QQJ3|Q9BVB5	RNA	SNP	-	NULL	ENST00000573882.1	37	NULL	CCDS11768.1	17																																																																																			RP11-334C17.5	-	-		0.547	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262580	Clone_based_vega_gene	protein_coding	OTTHUMT00000437507.1	C			78175927	-1	no_errors	ENST00000570309	ensembl	human	known	70_37	rna	SNP	0.000	T
ZNF66	7617	genome.wustl.edu	37	19	20988370	20988370	+	Intron	DEL	T	T	-	rs556849654|rs34028361	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:20988370delT	ENST00000344519.8	+	4	249				ZNF66_ENST00000425625.1_Intron|AC010329.1_ENST00000582722.1_RNA			Q6ZN08	ZNF66_HUMAN	zinc finger protein 66						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTAACAGACTTTTTTTTTTT	0.373													|||unknown(NO_COVERAGE)	562	0.11222	0.152	0.0908	5008	,	,		18132	0.0506		0.1213	False		,,,				2504	0.1278																0																																										SO:0001627	intron_variant	0			M88375		19p12	2013-03-06	2013-03-06	2013-03-06	ENSG00000160229	ENSG00000160229			13135	other	unknown			"""zinc finger protein 66, pseudogene"""	ZNF66P		1505991	Standard	NG_023377		Approved	FLJ16537	uc002npe.3	Q6ZN08	OTTHUMG00000167735	ENST00000344519.8:c.227-263T>-	19.37:g.20988370delT			I3L4P5|Q15939	RNA	DEL	-	NULL	ENST00000344519.8	37	NULL		19																																																																																			AC010329.1	-	-		0.373	ZNF66-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000266156	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000395955.2	T	NG_023377		20988370	+1	no_errors	ENST00000582722	ensembl	human	novel	70_37	rna	DEL	0.001	-
IL27RA	9466	genome.wustl.edu	37	19	14141855	14141855	+	5'Flank	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:14141855C>T	ENST00000263379.2	+	0	0				CTB-55O6.4_ENST00000590528.1_RNA	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha						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						TTTCGAGCCTCACACATTCAT	0.567																																					Colon(164;1849 1896 4443 37792 47834)												0																																										SO:0001631	upstream_gene_variant	0			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			19.37:g.14141855C>T	Exception_encountered		A0N0L1|O60624	RNA	SNP	-	NULL	ENST00000263379.2	37	NULL	CCDS12303.1	19																																																																																			CTB-55O6.4	-	-		0.567	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267670	Clone_based_vega_gene	protein_coding	OTTHUMT00000458539.1	C	NM_004843		14141855	-1	no_errors	ENST00000590528	ensembl	human	known	70_37	rna	SNP	0.002	T
TAF6L	10629	genome.wustl.edu	37	11	62553637	62553637	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:62553637G>A	ENST00000294168.3	+	10	1161				TMEM179B_ENST00000333449.4_5'Flank|TMEM179B_ENST00000533861.1_5'Flank|RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa						chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCCTGTCTAGGATCAGAGATA	0.408											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.961-95G>A	11.37:g.62553637G>A		1062	B2RAT0|Q96HA6	RNA	SNP	-	NULL	ENST00000294168.3	37	NULL	CCDS8035.1	11																																																																																			RP11-727F15.12	-	-		0.408	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269176	Clone_based_vega_gene	protein_coding	OTTHUMT00000395352.1	G	NM_006473		62553637	-1	no_errors	ENST00000601484	ensembl	human	known	70_37	rna	SNP	0.000	A
ITPR3	3710	genome.wustl.edu	37	6	33663377	33663377	+	Intron	SNP	G	G	A	rs547079667		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:33663377G>A	ENST00000374316.5	+	59	9007				ITPR3_ENST00000605930.1_Intron|MIR3934_ENST00000579806.1_RNA|SBP1_ENST00000594414.1_Missense_Mutation_p.S33L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CGCCAGTGCCGAATAGCAGCT	0.612																																																	0													18.0	21.0	20.0					6																	33663377		692	1591	2283	SO:0001627	intron_variant	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7948-112G>A	6.37:g.33663377G>A			Q14649|Q5TAQ2	Missense_Mutation	SNP	NULL	p.S33L	ENST00000374316.5	37	c.98	CCDS4783.1	6																																																																																			SBP1	-	NULL		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269490	Uniprot_genename	protein_coding	OTTHUMT00000040204.2	G	NM_002224		33663377	-1	no_errors	ENST00000594414	ensembl	human	known	70_37	missense	SNP	0.000	A
ENTPD7	57089	genome.wustl.edu	37	10	101464287	101464287	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:101464287C>G	ENST00000370489.4	+	13	1840	c.1662C>G	c.(1660-1662)ttC>ttG	p.F554L	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	554						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.F554L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACTATCTCTTCTTTGCCTGTA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											203.0	165.0	178.0					10																	101464287		2203	4300	6503	SO:0001583	missense	57089			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1662C>G	10.37:g.101464287C>G	ENSP00000359520:p.Phe554Leu		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.F554L	ENST00000370489.4	37	c.1662	CCDS7480.1	10	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466969	0.43839	.	.	ENSG00000198018	ENST00000370489	T	0.13420	2.59	5.0	3.15	0.36227	.	0.055398	0.64402	D	0.000001	T	0.14356	0.0347	M	0.65975	2.015	0.80722	D	1	B	0.15473	0.013	B	0.20184	0.028	T	0.05886	-1.0858	10	0.14252	T	0.57	-5.0782	9.7412	0.40420	0.0:0.7567:0.0:0.2433	.	554	Q9NQZ7	ENTP7_HUMAN	L	554	ENSP00000359520:F554L	ENSP00000359520:F554L	F	+	3	2	ENTPD7	101454277	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.660000	0.25009	0.718000	0.32166	-0.291000	0.09656	TTC	ENTPD7	-	NULL		0.507	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD7	HGNC	protein_coding	OTTHUMT00000049809.2	C	NM_020354		101464287	+1	no_errors	ENST00000370489	ensembl	human	known	70_37	missense	SNP	1.000	G
EP400	57634	genome.wustl.edu	37	12	132448185	132448185	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:132448185C>T	ENST00000333577.4	+	3	1553	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	EP400_ENST00000330386.6_Intron|EP400_ENST00000389562.2_Intron|EP400_ENST00000389561.2_Intron|EP400_ENST00000332482.4_Intron			Q96L91	EP400_HUMAN	E1A binding protein p400	482					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)		GCAACCATTTCAGGTACTTTT	0.438																																																	0													34.0	33.0	33.0					12																	132448185		876	1991	2867	SO:0001587	stop_gained	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.1444C>T	12.37:g.132448185C>T	ENSP00000333602:p.Gln482*		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_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.Q482*	ENST00000333577.4	37	c.1444		12	.	.	.	.	.	.	.	.	.	.	C	39	7.777565	0.98483	.	.	ENSG00000183495	ENST00000333577;ENST00000423130	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	.	.	.	X	482	.	ENSP00000333602:Q482X	Q	+	1	0	EP400	131014138	1.000000	0.71417	0.997000	0.53966	0.882000	0.50991	7.469000	0.80959	2.840000	0.97914	0.655000	0.94253	CAG	EP400	-	NULL		0.438	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132448185	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EPAS1	2034	genome.wustl.edu	37	2	46525033	46525033	+	5'UTR	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:46525033C>G	ENST00000263734.3	+	0	493				EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1						angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTGAACGTCTCAAAGGGCCAC	0.716																																																	0													31.0	34.0	33.0					2																	46525033		2188	4299	6487	SO:0001623	5_prime_UTR_variant	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.-18C>G	2.37:g.46525033C>G			Q86VA2|Q99630	RNA	SNP	-	NULL	ENST00000263734.3	37	NULL	CCDS1825.1	2																																																																																			EPAS1	-	-		0.716	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	C	NM_001430		46525033	+1	no_errors	ENST00000467888	ensembl	human	putative	70_37	rna	SNP	0.000	G
EPB41	2035	genome.wustl.edu	37	1	29342242	29342242	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:29342242C>G	ENST00000343067.4	+	6	995	c.868C>G	c.(868-870)Cca>Gca	p.P290A	EPB41_ENST00000373798.1_Missense_Mutation_p.P290A|EPB41_ENST00000398863.2_Missense_Mutation_p.P290A|EPB41_ENST00000347529.3_Missense_Mutation_p.P255A|EPB41_ENST00000373800.3_Missense_Mutation_p.P81A|EPB41_ENST00000373797.1_Missense_Mutation_p.P290A|EPB41_ENST00000356093.2_Missense_Mutation_p.P290A|EPB41_ENST00000349460.4_Missense_Mutation_p.P81A	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	290	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P290A(1)|p.P81A(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAAGTTTTATCCACCTGACCC	0.274																																																	2	Substitution - Missense(2)	cervix(2)											50.0	54.0	53.0					1																	29342242		2199	4293	6492	SO:0001583	missense	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.868C>G	1.37:g.29342242C>G	ENSP00000345259:p.Pro290Ala		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.P290A	ENST00000343067.4	37	c.868	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701282	0.88924	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.23	5.23	0.72850	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88429	0.6434	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.963;1.0;0.997;1.0;1.0;1.0;0.999;0.992;1.0	D	0.89788	0.3966	10	0.87932	D	0	.	17.8013	0.88587	0.0:1.0:0.0:0.0	.	290;290;290;290;290;307;255;81;81	E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;41_HUMAN;.;.;.;.;.;.	A	307;290;290;290;184;290;81;81;255;290;290	ENSP00000345259:P290A;ENSP00000348397:P290A;ENSP00000381839:P290A;ENSP00000317597:P81A;ENSP00000362906:P81A;ENSP00000290100:P255A;ENSP00000362904:P290A;ENSP00000362903:P290A	ENSP00000345259:P290A	P	+	1	0	EPB41	29214829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.559000	0.82265	2.456000	0.83038	0.555000	0.69702	CCA	EPB41	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin,pfscan_FERM_domain		0.274	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	C	NM_203342		29342242	+1	no_errors	ENST00000343067	ensembl	human	known	70_37	missense	SNP	1.000	G
EPG5	57724	genome.wustl.edu	37	18	43447670	43447670	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:43447670G>A	ENST00000282041.5	-	37	6303	c.6269C>T	c.(6268-6270)tCt>tTt	p.S2090F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2090					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.S2090F(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACAGAGTACAGACCCCAAAAA	0.448																																																	1	Substitution - Missense(1)	cervix(1)											91.0	87.0	88.0					18																	43447670		1876	4101	5977	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6269C>T	18.37:g.43447670G>A	ENSP00000282041:p.Ser2090Phe		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.S2090F	ENST00000282041.5	37	c.6269	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025775	0.35701	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.11604	2.76	5.46	5.46	0.80206	.	.	.	.	.	T	0.18299	0.0439	L	0.59436	1.845	0.38315	D	0.943375	P	0.43412	0.806	P	0.45639	0.488	T	0.00812	-1.1556	9	0.52906	T	0.07	-2.8537	15.3863	0.74703	0.0:0.0:0.8522:0.1478	.	2090	Q9HCE0	EPG5_HUMAN	F	2090;18;965	ENSP00000282041:S2090F	ENSP00000282041:S2090F	S	-	2	0	EPG5	41701668	1.000000	0.71417	0.912000	0.35992	0.950000	0.60333	3.954000	0.56708	2.726000	0.93360	0.655000	0.94253	TCT	EPG5	-	NULL		0.448	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	G	NM_020964		43447670	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	missense	SNP	0.842	A
EPG5	57724	genome.wustl.edu	37	18	43450595	43450595	+	Silent	SNP	C	C	T	rs368651243		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:43450595C>T	ENST00000282041.5	-	36	6196	c.6162G>A	c.(6160-6162)acG>acA	p.T2054T	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2054					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.T2054T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTTTCCGGTACGTGCTATGGA	0.517																																																	1	Substitution - coding silent(1)	cervix(1)						T		0,3980		0,0,1990	110.0	111.0	110.0		6162	-12.1	0.0	18		110	3,8325		0,3,4161	no	coding-synonymous	EPG5	NM_020964.2		0,3,6151	TT,TC,CC		0.036,0.0,0.0244		2054/2580	43450595	3,12305	1990	4164	6154	SO:0001819	synonymous_variant	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6162G>A	18.37:g.43450595C>T			A2BDF3|Q9H8C8	Silent	SNP	NULL	p.T2054	ENST00000282041.5	37	c.6162	CCDS11926.2	18																																																																																			EPG5	-	NULL		0.517	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	C	NM_020964		43450595	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	silent	SNP	0.008	T
EPG5	57724	genome.wustl.edu	37	18	43467829	43467829	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:43467829G>A	ENST00000282041.5	-	29	5030	c.4996C>T	c.(4996-4998)Cag>Tag	p.Q1666*	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1666					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.Q1666*(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCAACTTTCTGAATCCCAGGT	0.448																																																	1	Substitution - Nonsense(1)	cervix(1)											149.0	138.0	142.0					18																	43467829		1911	4147	6058	SO:0001587	stop_gained	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4996C>T	18.37:g.43467829G>A	ENSP00000282041:p.Gln1666*		A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	NULL	p.Q1666*	ENST00000282041.5	37	c.4996	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	G	46	12.237367	0.99649	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	.	.	.	6.02	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-11.1506	15.051	0.71867	0.0:0.0:0.7289:0.2711	.	.	.	.	X	1666;541	.	ENSP00000282041:Q1666X	Q	-	1	0	EPG5	41721827	1.000000	0.71417	0.965000	0.40720	0.996000	0.88848	5.278000	0.65592	1.497000	0.48584	0.650000	0.86243	CAG	EPG5	-	NULL		0.448	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	G	NM_020964		43467829	-1	no_errors	ENST00000282041	ensembl	human	known	70_37	nonsense	SNP	0.999	A
EPHA2	1969	genome.wustl.edu	37	1	16475043	16475043	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16475043G>C	ENST00000358432.5	-	3	807	c.653C>G	c.(652-654)tCt>tGt	p.S218C	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	218	Cys-rich.				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)	p.S218C(1)		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)	AGGTGCATCAGAGCCGGCGAT	0.657																																																	1	Substitution - Missense(1)	cervix(1)											58.0	59.0	58.0					1																	16475043		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.653C>G	1.37:g.16475043G>C	ENSP00000351209:p.Ser218Cys		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.S218C	ENST00000358432.5	37	c.653	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	9.995	1.231885	0.22626	.	.	ENSG00000142627	ENST00000358432	T	0.74106	-0.81	5.07	5.07	0.68467	.	0.122077	0.37623	N	0.002007	T	0.81659	0.4869	L	0.55990	1.75	0.37032	D	0.896736	B;D	0.61080	0.314;0.989	B;P	0.60682	0.079;0.878	D	0.86058	0.1530	10	0.87932	D	0	.	15.9393	0.79743	0.0:0.0:1.0:0.0	.	218;218	B5A968;P29317	.;EPHA2_HUMAN	C	218	ENSP00000351209:S218C	ENSP00000351209:S218C	S	-	2	0	EPHA2	16347630	0.998000	0.40836	0.882000	0.34594	0.078000	0.17371	4.802000	0.62539	2.358000	0.79984	0.511000	0.50034	TCT	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt		0.657	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	G	NM_004431		16475043	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	0.937	C
EPHA4	2043	genome.wustl.edu	37	2	222294716	222294716	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:222294716G>A	ENST00000281821.2	-	15	2693	c.2652C>T	c.(2650-2652)aaC>aaT	p.N884N	EPHA4_ENST00000409938.1_Silent_p.N884N|EPHA4_ENST00000392071.4_Silent_p.N833N|EPHA4_ENST00000409854.1_Silent_p.N884N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	884					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.N884N(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AGCTGTTGGGGTTGCGGATGA	0.512																																																	2	Substitution - coding silent(2)	cervix(2)											194.0	190.0	191.0					2																	222294716		2203	4300	6503	SO:0001819	synonymous_variant	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2652C>T	2.37:g.222294716G>A			A8K2P1|B2R601|B7Z6Q8|Q2M380	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_2,pfam_SAM_type1,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.N884	ENST00000281821.2	37	c.2652	CCDS2447.1	2																																																																																			EPHA4	-	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	G			222294716	-1	no_errors	ENST00000281821	ensembl	human	known	70_37	silent	SNP	0.999	A
EPHB6	2051	genome.wustl.edu	37	7	142563810	142563810	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:142563810G>A	ENST00000392957.2	+	9	1985	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	EPHB6_ENST00000442129.1_Missense_Mutation_p.D400N|EPHB6_ENST00000411471.2_Missense_Mutation_p.D123N	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	400	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.D385N(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGTCGAGGGGACCTGCTCTT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											32.0	28.0	30.0					7																	142563810		2203	4300	6503	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1198G>A	7.37:g.142563810G>A	ENSP00000376684:p.Asp400Asn		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,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.D400N	ENST00000392957.2	37	c.1198	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	33	5.250626	0.95305	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.58210	0.35;0.35;0.35	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000499	T	0.77039	0.4072	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.82608	-0.0373	10	0.87932	D	0	.	17.212	0.86932	0.0:0.0:1.0:0.0	.	400	O15197	EPHB6_HUMAN	N	400;400;123	ENSP00000376684:D400N;ENSP00000410789:D400N;ENSP00000409061:D123N	ENSP00000376684:D400N	D	+	1	0	EPHB6	142273932	1.000000	0.71417	0.967000	0.41034	0.921000	0.55340	9.808000	0.99193	2.289000	0.77006	0.462000	0.41574	GAC	EPHB6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	G			142563810	+1	no_errors	ENST00000392957	ensembl	human	known	70_37	missense	SNP	1.000	A
EPPK1	83481	genome.wustl.edu	37	8	144945860	144945860	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144945860G>C	ENST00000525985.1	-	2	1633	c.1562C>G	c.(1561-1563)tCa>tGa	p.S521*				P58107	EPIPL_HUMAN	epiplakin 1	521						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.S521*(1)		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)			CCTCTGCTCTGAGGAGATGGC	0.682																																																	1	Substitution - Nonsense(1)	cervix(1)											13.0	16.0	15.0					8																	144945860		1992	4153	6145	SO:0001587	stop_gained	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.1562C>G	8.37:g.144945860G>C	ENSP00000436337:p.Ser521*		Q76E58|Q9NSU9	Nonsense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.S521*	ENST00000525985.1	37	c.1562		8	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249635	0.59212	.	.	ENSG00000227184	ENST00000525985	.	.	.	5.12	-2.66	0.06077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	5.6183	0.17444	0.1583:0.1334:0.5768:0.1316	.	.	.	.	X	521	.	ENSP00000436337:S521X	S	-	2	0	EPPK1	145017848	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.016000	0.13377	-0.769000	0.04620	-0.302000	0.09304	TCA	EPPK1	-	NULL		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144945860	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	nonsense	SNP	0.000	C
ERC1	23085	genome.wustl.edu	37	12	1372230	1372230	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:1372230G>C	ENST00000397203.2	+	14	2924	c.2518G>C	c.(2518-2520)Gaa>Caa	p.E840Q	ERC1_ENST00000589028.1_Missense_Mutation_p.E840Q|ERC1_ENST00000355446.5_Missense_Mutation_p.E840Q|ERC1_ENST00000360905.4_Missense_Mutation_p.E840Q|ERC1_ENST00000546231.2_Missense_Mutation_p.E844Q|ERC1_ENST00000543086.3_Missense_Mutation_p.E812Q			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	840					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.E840Q(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGACAGGATTGAAGAGCTGGA	0.428																																																	1	Substitution - Missense(1)	cervix(1)											82.0	76.0	78.0					12																	1372230		2203	4300	6503	SO:0001583	missense	23085			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2518G>C	12.37:g.1372230G>C	ENSP00000380386:p.Glu840Gln		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.E840Q	ENST00000397203.2	37	c.2518	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927640	0.92389	.	.	ENSG00000082805	ENST00000397203;ENST00000454194;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	T;T;T;T;T;T;T	0.50277	1.7;1.7;0.75;1.33;1.71;1.7;1.32	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	M	0.68593	2.085	0.80722	D	1	D;D;D	0.67145	0.996;0.994;0.985	D;D;P	0.78314	0.991;0.91;0.756	T	0.61277	-0.7095	10	0.32370	T	0.25	-22.6879	20.5632	0.99335	0.0:0.0:1.0:0.0	.	816;812;840	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	Q	840;816;544;812;816;544;840;840;840;816	ENSP00000380386:E840Q;ENSP00000438546:E812Q;ENSP00000445336:E816Q;ENSP00000442976:E544Q;ENSP00000347621:E840Q;ENSP00000354158:E840Q;ENSP00000410064:E816Q	ENSP00000299183:E544Q	E	+	1	0	ERC1	1242491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.526000	0.98042	2.937000	0.99478	0.650000	0.86243	GAA	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	G	NM_015064		1372230	+1	no_errors	ENST00000360905	ensembl	human	known	70_37	missense	SNP	1.000	C
ERCC6L	54821	genome.wustl.edu	37	X	71426886	71426886	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:71426886C>G	ENST00000334463.3	-	2	1866	c.1731G>C	c.(1729-1731)gaG>gaC	p.E577D	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.E454D	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	577	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E577D(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CCACAACATTCTCTTTTTGTC	0.398																																																	1	Substitution - Missense(1)	cervix(1)											101.0	91.0	94.0					X																	71426886		2203	4300	6503	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1731G>C	X.37:g.71426886C>G	ENSP00000334675:p.Glu577Asp		Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E577D	ENST00000334463.3	37	c.1731	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077248	0.36662	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.42513	0.97;0.97	5.46	2.93	0.34026	Helicase, C-terminal (1);	.	.	.	.	T	0.36303	0.0962	N	0.10809	0.05	0.34862	D	0.742716	D	0.67145	0.996	P	0.60012	0.867	T	0.49351	-0.8949	9	0.87932	D	0	-13.458	6.4394	0.21841	0.0:0.3053:0.0:0.6947	.	577	Q2NKX8	ERC6L_HUMAN	D	454;577	ENSP00000362761:E454D;ENSP00000334675:E577D	ENSP00000334675:E577D	E	-	3	2	ERCC6L	71343611	0.998000	0.40836	1.000000	0.80357	0.801000	0.45260	0.414000	0.21164	0.232000	0.21100	-0.365000	0.07479	GAG	ERCC6L	-	pfscan_Helicase_C		0.398	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	C	NM_017669		71426886	-1	no_errors	ENST00000334463	ensembl	human	known	70_37	missense	SNP	0.998	G
ERF	2077	genome.wustl.edu	37	19	42753675	42753675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:42753675C>A	ENST00000222329.4	-	4	746	c.589G>T	c.(589-591)Gag>Tag	p.E197*	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Nonsense_Mutation_p.E122*	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	197					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)	p.E197*(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AGCGGTTCCTCCAGCTCTGAC	0.687																																																	1	Substitution - Nonsense(1)	cervix(1)											26.0	30.0	29.0					19																	42753675		2200	4296	6496	SO:0001587	stop_gained	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.589G>T	19.37:g.42753675C>A	ENSP00000222329:p.Glu197*		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Nonsense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E197*	ENST00000222329.4	37	c.589	CCDS12600.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.040866	0.97226	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	.	.	.	4.63	4.63	0.57726	.	0.389757	0.24851	N	0.035093	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.3824	0.74669	0.0:1.0:0.0:0.0	.	.	.	.	X	197;122	.	ENSP00000222329:E197X	E	-	1	0	ERF	47445515	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.229000	0.58625	2.582000	0.87167	0.655000	0.94253	GAG	ERF	-	NULL		0.687	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1	C	NM_006494		42753675	-1	no_errors	ENST00000222329	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ESPN	83715	genome.wustl.edu	37	1	6511783	6511783	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:6511783C>T	ENST00000377828.1	+	9	2204	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Missense_Mutation_p.S113L|ESPN_ENST00000416731.1_Missense_Mutation_p.S113L	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	679	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)	p.S679L(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACAGTGTTCTCAGGCATCGGG	0.682																																																	1	Substitution - Missense(1)	cervix(1)											22.0	25.0	24.0					1																	6511783		2203	4300	6503	SO:0001583	missense	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2036C>T	1.37:g.6511783C>T	ENSP00000367059:p.Ser679Leu		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.S679L	ENST00000377828.1	37	c.2036	CCDS70.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893683	0.91889	.	.	ENSG00000187017	ENST00000377828;ENST00000416731	D;D	0.88431	-2.38;-2.38	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000002	D	0.93609	0.7959	M	0.67953	2.075	0.50467	D	0.999871	D;D	0.89917	0.997;1.0	D;D	0.79784	0.993;0.982	D	0.94236	0.7481	10	0.87932	D	0	-15.4808	17.1311	0.86726	0.0:1.0:0.0:0.0	.	113;679	B1AK53-2;B1AK53	.;ESPN_HUMAN	L	679;113	ENSP00000367059:S679L;ENSP00000399239:S113L	ENSP00000367059:S679L	S	+	2	0	ESPN	6434370	1.000000	0.71417	0.964000	0.40570	0.966000	0.64601	4.464000	0.60134	2.515000	0.84797	0.491000	0.48974	TCA	ESPN	-	NULL		0.682	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	C	NM_031475		6511783	+1	no_errors	ENST00000377828	ensembl	human	known	70_37	missense	SNP	0.998	T
ESYT2	57488	genome.wustl.edu	37	7	158534343	158534343	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:158534343C>T	ENST00000251527.5	-	17	2185	c.2120G>A	c.(2119-2121)aGa>aAa	p.R707K	ESYT2_ENST00000435514.2_Missense_Mutation_p.R142K	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	735					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.R707K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGAGGAGCTTCTGCCCAGGTC	0.657																																																	1	Substitution - Missense(1)	cervix(1)											35.0	36.0	36.0					7																	158534343		2203	4300	6503	SO:0001583	missense	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2120G>A	7.37:g.158534343C>T	ENSP00000251527:p.Arg707Lys		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R707K	ENST00000251527.5	37	c.2120	CCDS34791.1	7	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013897	0.19277	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650	T;T;T	0.19938	2.11;2.12;2.56	5.4	4.32	0.51571	.	0.224760	0.41396	D	0.000898	T	0.12603	0.0306	L	0.28740	0.885	0.38803	D	0.955238	B;B	0.10296	0.003;0.002	B;B	0.17098	0.017;0.002	T	0.06320	-1.0833	10	0.02654	T	1	-19.1728	10.5977	0.45347	0.0:0.8353:0.0:0.1647	.	707;735	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	K	707;756;698;142;142	ENSP00000251527:R707K;ENSP00000275418:R698K;ENSP00000411488:R142K	ENSP00000251527:R707K	R	-	2	0	ESYT2	158227104	0.964000	0.33143	0.998000	0.56505	0.062000	0.15995	2.243000	0.43115	2.536000	0.85505	0.650000	0.86243	AGA	ESYT2	-	NULL		0.657	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	C	NM_020728		158534343	-1	no_errors	ENST00000251527	ensembl	human	known	70_37	missense	SNP	0.995	T
ETV5	2119	genome.wustl.edu	37	3	185798884	185798884	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:185798884C>T	ENST00000306376.5	-	6	559	c.313G>A	c.(313-315)Gag>Aag	p.E105K	ETV5_ENST00000434744.1_Missense_Mutation_p.E105K|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000537818.1_Missense_Mutation_p.E147K	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	105					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E105K(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGAGCCTGCTCATGGCTACAA	0.532			T	"""TMPRSS2, SCL45A3"""	Prostate																																			Dom	yes		3	3q28	2119	ets variant gene 5		E	2	Substitution - Missense(2)	cervix(2)											160.0	164.0	162.0					3																	185798884		2203	4300	6503	SO:0001583	missense	2119			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.313G>A	3.37:g.185798884C>T	ENSP00000306894:p.Glu105Lys		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E147K	ENST00000306376.5	37	c.439	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	C	14.36	2.510898	0.44660	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.04	5.04	0.67666	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.224710	0.43110	D	0.000603	T	0.23532	0.0569	L	0.33245	0.995	0.50039	D	0.99984	P;P	0.48089	0.905;0.905	P;P	0.50314	0.562;0.637	T	0.01869	-1.1257	10	0.13853	T	0.58	.	15.2917	0.73870	0.0:1.0:0.0:0.0	.	105;147	P41161;B7Z7D7	ETV5_HUMAN;.	K	105;105;147;105;105;105	ENSP00000306894:E105K;ENSP00000413755:E105K;ENSP00000441737:E147K;ENSP00000389707:E105K;ENSP00000412171:E105K;ENSP00000405157:E105K	ENSP00000306894:E105K	E	-	1	0	ETV5	187281578	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	6.502000	0.73695	2.337000	0.79520	0.563000	0.77884	GAG	ETV5	-	pfam_ETS_PEA3_N		0.532	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	C	NM_004454		185798884	-1	no_errors	ENST00000537818	ensembl	human	known	70_37	missense	SNP	1.000	T
EVL	51466	genome.wustl.edu	37	14	100604120	100604120	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:100604120C>G	ENST00000402714.2	+	11	1673	c.1069C>G	c.(1069-1071)Cag>Gag	p.Q357E	EVL_ENST00000392920.3_Missense_Mutation_p.Q359E|EVL_ENST00000544450.2_Missense_Mutation_p.Q363E			Q9UI08	EVL_HUMAN	Enah/Vasp-like	357	EVH2.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)	p.Q359E(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GAGCCCCCTTCAGTCGCAGCC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											109.0	107.0	108.0					14																	100604120		2203	4300	6503	SO:0001583	missense	51466			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.1069C>G	14.37:g.100604120C>G	ENSP00000384720:p.Gln357Glu		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_EVH1	p.Q359E	ENST00000402714.2	37	c.1075		14	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446010	0.25987	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470	T;T;T	0.70986	-0.36;-0.53;-0.36	4.73	4.73	0.59995	.	0.690656	0.13220	N	0.404439	T	0.77082	0.4078	L	0.51422	1.61	0.39293	D	0.964773	P;P;P	0.49447	0.924;0.811;0.713	P;P;P	0.62298	0.9;0.83;0.585	T	0.70368	-0.4891	10	0.02654	T	1	-13.282	17.6886	0.88263	0.0:1.0:0.0:0.0	.	363;359;357	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	E	357;363;359;322	ENSP00000384720:Q357E;ENSP00000437904:Q363E;ENSP00000376652:Q359E	ENSP00000376652:Q359E	Q	+	1	0	EVL	99673873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.182000	0.65059	2.163000	0.67991	0.561000	0.74099	CAG	EVL	-	pirsf_Vasodilator_phosphoprotein		0.612	EVL-006	KNOWN	basic|appris_candidate	protein_coding	EVL	HGNC	protein_coding	OTTHUMT00000413958.1	C			100604120	+1	no_errors	ENST00000392920	ensembl	human	known	70_37	missense	SNP	1.000	G
EVX2	344191	genome.wustl.edu	37	2	176945275	176945275	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:176945275G>A	ENST00000308618.4	-	3	1127	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	331					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGCTCCGGCCGAGAGTAGGGG	0.746																																																	0													7.0	8.0	8.0					2																	176945275		2102	4138	6240	SO:0001583	missense	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.991C>T	2.37:g.176945275G>A	ENSP00000312385:p.Arg331Trp			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa	p.R331W	ENST00000308618.4	37	c.991	CCDS33333.1	2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032010	0.54790	.	.	ENSG00000174279	ENST00000308618	D	0.92397	-3.03	3.92	3.02	0.34903	.	0.070100	0.56097	D	0.000029	D	0.89238	0.6658	L	0.43923	1.385	0.54753	D	0.999988	P	0.48350	0.909	P	0.46940	0.532	D	0.87900	0.2690	10	0.87932	D	0	-16.1313	8.8082	0.34952	0.0:0.0:0.5913:0.4087	.	331	Q03828	EVX2_HUMAN	W	331	ENSP00000312385:R331W	ENSP00000312385:R331W	R	-	1	2	EVX2	176653521	0.063000	0.20901	0.990000	0.47175	0.045000	0.14185	0.230000	0.17852	0.862000	0.35528	0.462000	0.41574	CGG	EVX2	-	NULL		0.746	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	HGNC	protein_coding	OTTHUMT00000359252.1	G			176945275	-1	no_errors	ENST00000308618	ensembl	human	known	70_37	missense	SNP	0.991	A
EXOC1	55763	genome.wustl.edu	37	4	56736998	56736998	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:56736998C>T	ENST00000381295.2	+	6	1106	c.758C>T	c.(757-759)tCt>tTt	p.S253F	EXOC1_ENST00000349598.6_Missense_Mutation_p.S253F|EXOC1_ENST00000346134.7_Missense_Mutation_p.S253F	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	253					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S253F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GATCAGATCTCTGAAAGCAAC	0.353																																																	1	Substitution - Missense(1)	cervix(1)											101.0	105.0	103.0					4																	56736998		2203	4300	6503	SO:0001583	missense	55763			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.758C>T	4.37:g.56736998C>T	ENSP00000370695:p.Ser253Phe		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1	p.S253F	ENST00000381295.2	37	c.758	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604166	0.87157	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.65010	0.931;0.926	T	0.75436	-0.3318	9	0.87932	D	0	.	20.1731	0.98165	0.0:1.0:0.0:0.0	.	253;253	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	F	253	.	ENSP00000326514:S253F	S	+	2	0	EXOC1	56431755	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.768000	0.95171	0.655000	0.94253	TCT	EXOC1	-	pfam_Exocyst_Exoc1		0.353	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	C	NM_018261		56736998	+1	no_errors	ENST00000346134	ensembl	human	known	70_37	missense	SNP	1.000	T
EXOC3	11336	genome.wustl.edu	37	5	446437	446437	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:446437G>A	ENST00000512944.1	+	2	306	c.117G>A	c.(115-117)aaG>aaA	p.K39K	EXOC3_ENST00000315013.5_Silent_p.K39K|EXOC3_ENST00000510441.1_3'UTR	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	50					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)		p.K39K(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGCGCGGAAGAAGGCCTCCG	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											38.0	44.0	42.0					5																	446437		2008	4170	6178	SO:0001819	synonymous_variant	11336			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.117G>A	5.37:g.446437G>A			Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	pfam_Sec6	p.K39	ENST00000512944.1	37	c.117	CCDS54830.1	5																																																																																			EXOC3	-	NULL		0.597	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	G	NM_007277		446437	+1	no_errors	ENST00000315013	ensembl	human	known	70_37	silent	SNP	0.980	A
EXOC6	54536	genome.wustl.edu	37	10	94700547	94700547	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:94700547G>A	ENST00000260762.6	+	13	1290	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	EXOC6_ENST00000371547.4_Missense_Mutation_p.E442K|EXOC6_ENST00000371552.4_Missense_Mutation_p.E421K|EXOC6_ENST00000443748.2_Missense_Mutation_p.E323K	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	426					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.E421K(1)|p.E426K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CCAATACAATGAAACACTGCT	0.323																																																	2	Substitution - Missense(2)	cervix(2)											77.0	81.0	80.0					10																	94700547		2203	4298	6501	SO:0001583	missense	54536			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1276G>A	10.37:g.94700547G>A	ENSP00000260762:p.Glu426Lys		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.E442K	ENST00000260762.6	37	c.1324	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817781	0.90790	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.98	5.98	0.97165	.	0.136815	0.64402	D	0.000004	T	0.81327	0.4799	M	0.89785	3.06	0.80722	D	1	P;P;D;P;P	0.58268	0.701;0.863;0.982;0.568;0.568	B;P;P;B;B	0.56127	0.403;0.582;0.792;0.265;0.265	D	0.84321	0.0516	10	0.87932	D	0	-11.9228	20.452	0.99131	0.0:0.0:1.0:0.0	.	442;323;418;426;421	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	K	442;421;323;426	ENSP00000360602:E442K;ENSP00000360607:E421K;ENSP00000396206:E323K;ENSP00000260762:E426K	ENSP00000260762:E426K	E	+	1	0	EXOC6	94690527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.838000	0.97847	0.591000	0.81541	GAA	EXOC6	-	pirsf_Sec15		0.323	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	G	NM_019053		94700547	+1	no_errors	ENST00000371547	ensembl	human	known	70_37	missense	SNP	1.000	A
EXOC8	149371	genome.wustl.edu	37	1	231472064	231472064	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:231472064G>C	ENST00000360394.2	-	1	1514	c.1428C>G	c.(1426-1428)atC>atG	p.I476M	SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.I472M|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	476					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I476M(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTGCAAAATCGATCTCAAATT	0.488																																																	1	Substitution - Missense(1)	cervix(1)											39.0	36.0	37.0					1																	231472064		2203	4300	6503	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1428C>G	1.37:g.231472064G>C	ENSP00000353564:p.Ile476Met		B3KU33|Q5TE82	Missense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I476M	ENST00000360394.2	37	c.1428	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	G	3.246	-0.154259	0.06585	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.75938	-0.98;-0.98	5.44	-10.9	0.00192	Cullin repeat-like-containing domain (1);	0.227427	0.43919	D	0.000503	T	0.31702	0.0805	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	10	0.42905	T	0.14	-3.2999	6.1772	0.20451	0.2262:0.2511:0.4436:0.0791	.	476	Q8IYI6	EXOC8_HUMAN	M	476;472	ENSP00000353564:I476M;ENSP00000355605:I472M	ENSP00000353564:I476M	I	-	3	3	EXOC8	229538687	0.000000	0.05858	0.131000	0.22000	0.650000	0.38633	-3.059000	0.00624	-3.084000	0.00250	-2.241000	0.00287	ATC	EXOC8	-	superfamily_Cullin_repeat-like_dom		0.488	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		G	NM_175876		231472064	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	missense	SNP	0.023	C
EXOC8	149371	genome.wustl.edu	37	1	231472148	231472148	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:231472148G>C	ENST00000360394.2	-	1	1430	c.1344C>G	c.(1342-1344)atC>atG	p.I448M	SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.I444M|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	448					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I448M(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGGCACCTTCGATGCGAAGCT	0.488																																																	1	Substitution - Missense(1)	cervix(1)											55.0	53.0	54.0					1																	231472148		2203	4300	6503	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1344C>G	1.37:g.231472148G>C	ENSP00000353564:p.Ile448Met		B3KU33|Q5TE82	Missense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I448M	ENST00000360394.2	37	c.1344	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	g	6.172	0.400008	0.11696	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77229	-1.08;-1.07	5.97	-7.55	0.01327	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	L	0.33753	1.03	0.58432	D	0.999992	D	0.71674	0.998	D	0.79108	0.992	T	0.80580	-0.1319	10	0.33940	T	0.23	-21.8946	19.218	0.93785	0.3726:0.0:0.6274:0.0	.	448	Q8IYI6	EXOC8_HUMAN	M	448;444	ENSP00000353564:I448M;ENSP00000355605:I444M	ENSP00000353564:I448M	I	-	3	3	EXOC8	229538771	0.340000	0.24792	0.729000	0.30791	0.531000	0.34715	-0.279000	0.08479	-1.490000	0.01842	-2.464000	0.00204	ATC	EXOC8	-	superfamily_Cullin_repeat-like_dom		0.488	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		G	NM_175876		231472148	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	missense	SNP	0.633	C
EXOSC9	5393	genome.wustl.edu	37	4	122735121	122735121	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:122735121G>A	ENST00000243498.5	+	10	1183	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.E359K|EXOSC9_ENST00000512454.1_Missense_Mutation_p.E343K	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	359					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E359K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GGAAGATGATGAAGGCGGTGG	0.453																																																	1	Substitution - Missense(1)	cervix(1)											160.0	159.0	159.0					4																	122735121		2203	4300	6503	SO:0001583	missense	5393			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.1075G>A	4.37:g.122735121G>A	ENSP00000243498:p.Glu359Lys		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.E359K	ENST00000243498.5	37	c.1075	CCDS3722.2	4	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475703	0.84640	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000512454	T;T;T	0.26810	1.71;1.74;1.71	5.49	4.65	0.58169	.	0.348822	0.34291	N	0.004087	T	0.22360	0.0539	L	0.40543	1.245	0.38656	D	0.951951	B;P;B	0.52463	0.051;0.953;0.433	B;P;B	0.45195	0.016;0.473;0.11	T	0.06481	-1.0824	10	0.15066	T	0.55	-30.4547	11.2924	0.49258	0.1456:0.0:0.8544:0.0	.	343;359;359	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	K	359;359;343	ENSP00000243498:E359K;ENSP00000368984:E359K;ENSP00000425782:E343K	ENSP00000243498:E359K	E	+	1	0	EXOSC9	122954571	1.000000	0.71417	0.941000	0.38009	0.945000	0.59286	4.493000	0.60341	1.336000	0.45506	0.551000	0.68910	GAA	EXOSC9	-	NULL		0.453	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC9	HGNC	protein_coding	OTTHUMT00000250708.2	G	NM_005033		122735121	+1	no_errors	ENST00000379663	ensembl	human	known	70_37	missense	SNP	0.990	A
F11R	50848	genome.wustl.edu	37	1	160971084	160971084	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:160971084C>G	ENST00000368026.6	-	2	398	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'Flank|F11R_ENST00000537746.1_Missense_Mutation_p.E42Q	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	42	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.E42Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CGATTATTCTCAGGAATTCTG	0.572																																																	1	Substitution - Missense(1)	cervix(1)											76.0	69.0	71.0					1																	160971084		2203	4300	6503	SO:0001583	missense	50848			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.124G>C	1.37:g.160971084C>G	ENSP00000357005:p.Glu42Gln		B7Z941	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E46Q	ENST00000368026.6	37	c.136	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820963	0.90873	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.68765	-0.35;-0.06;-0.35	4.11	4.11	0.48088	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.064020	0.64402	D	0.000010	T	0.74801	0.3764	M	0.81682	2.555	0.42195	D	0.991749	P;D;D;D;D	0.76494	0.935;0.999;0.998;0.998;0.998	P;D;P;P;P	0.68943	0.515;0.961;0.865;0.865;0.865	T	0.76512	-0.2932	10	0.45353	T	0.12	.	11.7137	0.51639	0.0:1.0:0.0:0.0	.	46;42;42;42;42	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	Q	42;42;42;42;46	ENSP00000357005:E42Q;ENSP00000440812:E42Q;ENSP00000394809:E46Q	ENSP00000289779:E42Q	E	-	1	0	F11R	159237708	0.981000	0.34729	0.793000	0.32043	0.837000	0.47467	3.252000	0.51461	2.101000	0.63845	0.563000	0.77884	GAG	F11R	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.572	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	HGNC	protein_coding	OTTHUMT00000071458.3	C	NM_016946		160971084	-1	no_errors	ENST00000436182	ensembl	human	known	70_37	missense	SNP	0.936	G
F13B	2165	genome.wustl.edu	37	1	197026206	197026206	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:197026206G>C	ENST00000367412.1	-	7	1151	c.1108C>G	c.(1108-1110)Ctc>Gtc	p.L370V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	370	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.L370V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GATCCATGGAGAAGGTAGCCG	0.388																																																	1	Substitution - Missense(1)	cervix(1)											132.0	111.0	118.0					1																	197026206		2203	4300	6503	SO:0001583	missense	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1108C>G	1.37:g.197026206G>C	ENSP00000356382:p.Leu370Val		A8K3E5|Q5VYL5	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L370V	ENST00000367412.1	37	c.1108	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262990	0.23051	.	.	ENSG00000143278	ENST00000367412	T	0.69926	-0.44	5.99	0.19	0.15125	Complement control module (2);Sushi/SCR/CCP (3);	0.301070	0.18184	N	0.149047	T	0.72779	0.3503	M	0.86028	2.79	0.09310	N	0.999999	B	0.31790	0.34	B	0.39503	0.301	T	0.70988	-0.4722	10	0.62326	D	0.03	.	14.899	0.70664	0.0:0.0:0.3563:0.6437	.	370	P05160	F13B_HUMAN	V	370	ENSP00000356382:L370V	ENSP00000356382:L370V	L	-	1	0	F13B	195292829	0.711000	0.27906	0.277000	0.24703	0.014000	0.08584	1.287000	0.33284	0.383000	0.24910	0.650000	0.86243	CTC	F13B	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.388	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2	G	NM_001994		197026206	-1	no_errors	ENST00000367412	ensembl	human	known	70_37	missense	SNP	0.022	C
F7	2155	genome.wustl.edu	37	13	113770018	113770018	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:113770018G>C	ENST00000375581.3	+	6	510	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	F7_ENST00000541084.1_Missense_Mutation_p.E90Q|F7_ENST00000346342.3_Missense_Mutation_p.E137Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	159	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGGCGGCTGTGAGCAGTACTG	0.632																																																	0													55.0	44.0	48.0					13																	113770018		2202	4300	6502	SO:0001583	missense	2155				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.475G>C	13.37:g.113770018G>C	ENSP00000364731:p.Glu159Gln		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain	p.E159Q	ENST00000375581.3	37	c.475	CCDS9528.1	13	.	.	.	.	.	.	.	.	.	.	G	8.934	0.964218	0.18583	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.91792	-2.91;-2.78;-2.91	4.3	1.46	0.22682	Epidermal growth factor-like (1);	0.365474	0.26731	N	0.022800	D	0.89729	0.6799	L	0.28192	0.835	0.42493	D	0.992902	P;P;B;B	0.39424	0.673;0.544;0.384;0.265	P;B;B;B	0.48952	0.596;0.327;0.139;0.115	D	0.86875	0.2038	10	0.49607	T	0.09	.	13.6303	0.62191	0.0:0.4548:0.5452:0.0	.	90;90;137;159	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	Q	137;90;159	ENSP00000329546:E137Q;ENSP00000442051:E90Q;ENSP00000364731:E159Q	ENSP00000329546:E137Q	E	+	1	0	F7	112818019	0.834000	0.29399	0.978000	0.43139	0.215000	0.24574	0.262000	0.18460	0.070000	0.16634	-0.300000	0.09419	GAG	F7	-	smart_EG-like_dom,pirsf_Pept_S1A_FX		0.632	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	F7	HGNC	protein_coding	OTTHUMT00000045838.4	G	NM_000131		113770018	+1	no_errors	ENST00000375581	ensembl	human	known	70_37	missense	SNP	0.998	C
FAHD2A	51011	genome.wustl.edu	37	2	96076738	96076738	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:96076738C>G	ENST00000233379.4	+	5	802	c.649C>G	c.(649-651)Ctg>Gtg	p.L217V	FAHD2A_ENST00000447036.1_Missense_Mutation_p.L217V	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	217							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L217V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CTTCTGCCCTCTGGGCCCTGC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											120.0	100.0	107.0					2																	96076738		2203	4300	6503	SO:0001583	missense	51011			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.649C>G	2.37:g.96076738C>G	ENSP00000233379:p.Leu217Val		Q9Y3B0	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.L217V	ENST00000233379.4	37	c.649	CCDS2014.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231658	0.79688	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	D;D	0.95035	-3.59;-3.59	3.13	3.13	0.36017	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.079030	0.52532	D	0.000079	D	0.95037	0.8393	L	0.51914	1.62	0.43608	D	0.995978	D	0.62365	0.991	D	0.68765	0.96	D	0.93958	0.7238	10	0.48119	T	0.1	.	9.8892	0.41279	0.0:1.0:0.0:0.0	.	217	Q96GK7	FAH2A_HUMAN	V	217	ENSP00000406424:L217V;ENSP00000233379:L217V	ENSP00000233379:L217V	L	+	1	2	FAHD2A	95440465	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	1.427000	0.34881	1.737000	0.51674	0.561000	0.74099	CTG	FAHD2A	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel		0.562	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD2A	HGNC	protein_coding	OTTHUMT00000252778.1	C	NM_016044		96076738	+1	no_errors	ENST00000233379	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM102A	399665	genome.wustl.edu	37	9	130742405	130742405	+	Missense_Mutation	SNP	C	C	G	rs532794999		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:130742405C>G	ENST00000373095.1	-	1	387	c.12G>C	c.(10-12)ttG>ttC	p.L4F		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	4								p.L4F(1)		breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCTTCTTCATCAAGAAAGCCA	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	cervix(1)											95.0	109.0	104.0					9																	130742405		2203	4300	6503	SO:0001583	missense	399665				CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.12G>C	9.37:g.130742405C>G	ENSP00000362187:p.Leu4Phe		A2A329|Q8TEL4	Missense_Mutation	SNP	pfam_NT-C2	p.L4F	ENST00000373095.1	37	c.12	CCDS35150.1	9	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914360	0.72983	.	.	ENSG00000167106	ENST00000373095	.	.	.	4.87	3.01	0.34805	.	0.242222	0.36002	N	0.002854	T	0.62624	0.2443	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.56902	-0.7902	9	0.33141	T	0.24	-11.5546	8.7175	0.34421	0.1503:0.7702:0.0:0.0795	.	4	Q5T9C2	F102A_HUMAN	F	4	.	ENSP00000362187:L4F	L	-	3	2	FAM102A	129782226	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	1.481000	0.35476	0.462000	0.27095	0.462000	0.41574	TTG	FAM102A	-	NULL		0.532	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102A	HGNC	protein_coding	OTTHUMT00000054298.2	C			130742405	-1	no_errors	ENST00000373095	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM129A	116496	genome.wustl.edu	37	1	184764121	184764121	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:184764121G>A	ENST00000367511.3	-	14	2970	c.2777C>T	c.(2776-2778)tCa>tTa	p.S926L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	926					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S926L(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCACTCCTCTGAGGGCAGCTC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											111.0	113.0	112.0					1																	184764121		2203	4300	6503	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2777C>T	1.37:g.184764121G>A	ENSP00000356481:p.Ser926Leu		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.S926L	ENST00000367511.3	37	c.2777	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154013	0.78114	.	.	ENSG00000135842	ENST00000367511	T	0.13901	2.55	4.82	2.94	0.34122	.	0.954192	0.08569	N	0.926408	T	0.11707	0.0285	L	0.29908	0.895	0.09310	N	0.999999	B	0.13594	0.008	B	0.11329	0.006	T	0.32348	-0.9910	10	0.66056	D	0.02	9.4646	8.2881	0.31941	0.1885:0.0:0.8115:0.0	.	926	Q9BZQ8	NIBAN_HUMAN	L	926	ENSP00000356481:S926L	ENSP00000356481:S926L	S	-	2	0	FAM129A	183030744	0.088000	0.21588	0.096000	0.21009	0.599000	0.36880	1.209000	0.32357	0.456000	0.26937	0.462000	0.41574	TCA	FAM129A	-	NULL		0.502	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	G			184764121	-1	no_errors	ENST00000367511	ensembl	human	known	70_37	missense	SNP	0.196	A
FAM13A	10144	genome.wustl.edu	37	4	89941646	89941646	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:89941646G>C	ENST00000264344.5	-	3	599	c.392C>G	c.(391-393)tCa>tGa	p.S131*	FAM13A_ENST00000511976.1_5'UTR|FAM13A_ENST00000515600.1_Nonsense_Mutation_p.S131*|FAM13A_ENST00000509094.1_Nonsense_Mutation_p.S131*|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	131	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S131*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTGCAACGCTGAGGTGATCAG	0.517																																																	1	Substitution - Nonsense(1)	cervix(1)											69.0	65.0	66.0					4																	89941646		2203	4300	6503	SO:0001587	stop_gained	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.392C>G	4.37:g.89941646G>C	ENSP00000264344:p.Ser131*		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S131*	ENST00000264344.5	37	c.392	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411262	0.62399	.	.	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600	.	.	.	4.22	3.37	0.38596	.	0.573302	0.17148	N	0.185194	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6811	0.56922	0.0817:0.0:0.9183:0.0	.	.	.	.	X	131	.	.	S	-	2	0	FAM13A	90160669	0.943000	0.32029	0.002000	0.10522	0.013000	0.08279	6.074000	0.71253	1.342000	0.45619	0.650000	0.86243	TCA	FAM13A	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.517	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	G			89941646	-1	no_errors	ENST00000264344	ensembl	human	known	70_37	nonsense	SNP	0.017	C
FAM171A1	221061	genome.wustl.edu	37	10	15255395	15255395	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:15255395C>T	ENST00000378116.4	-	8	2198	c.2192G>A	c.(2191-2193)gGa>gAa	p.G731E	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	731						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G731E(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCGTTCCTTCCAGCTCTTTG	0.537																																																	2	Substitution - Missense(2)	cervix(2)											101.0	86.0	91.0					10																	15255395		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2192G>A	10.37:g.15255395C>T	ENSP00000367356:p.Gly731Glu		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.G731E	ENST00000378116.4	37	c.2192	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004778	0.54254	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.29655	1.56	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47923	-0.9079	10	0.21540	T	0.41	-23.9241	19.0487	0.93032	0.0:1.0:0.0:0.0	.	731	Q5VUB5	F1711_HUMAN	E	731;730	ENSP00000367356:G731E	ENSP00000367356:G731E	G	-	2	0	FAM171A1	15295401	1.000000	0.71417	0.970000	0.41538	0.521000	0.34408	5.732000	0.68563	2.724000	0.93272	0.563000	0.77884	GGA	FAM171A1	-	pfam_Uncharacterised_FAM171		0.537	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	C	XM_167709		15255395	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	missense	SNP	1.000	T
TVP23B	51030	genome.wustl.edu	37	17	18702243	18702243	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:18702243G>C	ENST00000307767.8	+	5	748	c.449G>C	c.(448-450)aGa>aCa	p.R150T	TVP23B_ENST00000476139.1_Missense_Mutation_p.R86T|TVP23B_ENST00000581733.1_Missense_Mutation_p.R86T|TVP23B_ENST00000574226.1_Missense_Mutation_p.R150T	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	150						integral component of membrane (GO:0016021)		p.R150T(1)									TTCTCCTTCAGAGTAAAGTGG	0.393																																																	1	Substitution - Missense(1)	cervix(1)											187.0	184.0	185.0					17																	18702243		2203	4300	6503	SO:0001583	missense	51030			AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.449G>C	17.37:g.18702243G>C	ENSP00000305654:p.Arg150Thr		A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	pfam_DUF846_euk	p.R150T	ENST00000307767.8	37	c.449	CCDS42274.1	17	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252069	0.22880	.	.	ENSG00000171928	ENST00000307767	T	0.41400	1.0	3.13	2.02	0.26589	.	0.099330	0.64402	D	0.000002	T	0.30823	0.0777	L	0.49640	1.575	0.30827	N	0.737102	B	0.17852	0.024	B	0.21360	0.034	T	0.17198	-1.0377	10	0.40728	T	0.16	-12.3641	3.8934	0.09128	0.3384:0.0:0.6616:0.0	.	150	Q9NYZ1	F18B1_HUMAN	T	150	ENSP00000305654:R150T	ENSP00000305654:R150T	R	+	2	0	FAM18B1	18642968	1.000000	0.71417	0.953000	0.39169	0.460000	0.32559	3.444000	0.52914	1.573000	0.49748	0.194000	0.17425	AGA	FAM18B1	-	pfam_DUF846_euk		0.393	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM18B1	HGNC	protein_coding	OTTHUMT00000130667.2	G	NM_016078		18702243	+1	no_errors	ENST00000307767	ensembl	human	known	70_37	missense	SNP	0.997	C
FAM209B	388799	genome.wustl.edu	37	20	55108465	55108465	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:55108465C>T	ENST00000371325.1	+	1	164	c.68C>T	c.(67-69)tCt>tTt	p.S23F		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	23						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S23F(1)|p.S23C(1)									TTTATGTTCTCTTCTCTGAGA	0.552																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											101.0	92.0	95.0					20																	55108465		2203	4298	6501	SO:0001583	missense	388799			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 107"""	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.68C>T	20.37:g.55108465C>T	ENSP00000360376:p.Ser23Phe		Q3KRB5	Missense_Mutation	SNP	NULL	p.S23F	ENST00000371325.1	37	c.68	CCDS33494.1	20	.	.	.	.	.	.	.	.	.	.	C	6.715	0.500593	0.12822	.	.	ENSG00000213714	ENST00000371325	T	0.13420	2.59	2.82	2.82	0.32997	.	0.000000	0.48767	D	0.000162	T	0.30039	0.0752	M	0.64404	1.975	0.34257	D	0.679475	D	0.76494	0.999	D	0.83275	0.996	T	0.41395	-0.9511	10	0.66056	D	0.02	-25.8513	9.1817	0.37146	0.0:1.0:0.0:0.0	.	23	Q5JX69	CT107_HUMAN	F	23	ENSP00000360376:S23F	ENSP00000360376:S23F	S	+	2	0	C20orf107	54541872	0.130000	0.22417	0.519000	0.27824	0.064000	0.16182	0.923000	0.28757	1.565000	0.49641	0.407000	0.27541	TCT	FAM209B	-	NULL		0.552	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209B	HGNC	protein_coding	OTTHUMT00000079816.1	C			55108465	+1	no_errors	ENST00000371325	ensembl	human	known	70_37	missense	SNP	0.942	T
FAM20A	54757	genome.wustl.edu	37	17	66538872	66538872	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:66538872C>T	ENST00000592554.1	-	6	1613	c.891G>A	c.(889-891)aaG>aaA	p.K297K	FAM20A_ENST00000226094.5_5'UTR|AC079210.1_ENST00000600820.1_5'Flank|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	297					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)		p.K297K(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGATTTCATTCTTGGTGACCT	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											138.0	136.0	137.0					17																	66538872		2203	4300	6503	SO:0001819	synonymous_variant	54757			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.891G>A	17.37:g.66538872C>T			B2RN47|B2RN49|Q9UF95	Silent	SNP	pfam_DUF1193	p.K297	ENST00000592554.1	37	c.891	CCDS11679.1	17																																																																																			FAM20A	-	NULL		0.512	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20A	HGNC	protein_coding	OTTHUMT00000450029.2	C	NM_017565		66538872	-1	no_errors	ENST00000592554	ensembl	human	known	70_37	silent	SNP	1.000	T
FAM214A	56204	genome.wustl.edu	37	15	52901377	52901377	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:52901377C>T	ENST00000261844.7	-	6	1886	c.1734G>A	c.(1732-1734)ttG>ttA	p.L578L	FAM214A_ENST00000546305.2_Silent_p.L585L	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	578								p.L578L(1)									TTTGATGTTTCAAAGAACACT	0.313																																																	1	Substitution - coding silent(1)	cervix(1)											53.0	53.0	53.0					15																	52901377		1806	4065	5871	SO:0001819	synonymous_variant	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1734G>A	15.37:g.52901377C>T			A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	NULL	p.L578	ENST00000261844.7	37	c.1734	CCDS45263.1	15																																																																																			FAM214A	-	NULL		0.313	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	C	NM_019600		52901377	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	silent	SNP	0.002	T
NUTM2A	728118	genome.wustl.edu	37	10	88994238	88994238	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:88994238G>A	ENST00000381707.2	+	7	2793	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	NUTM2A-AS1_ENST00000456104.1_RNA|NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Intron	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	804								p.E804K(1)									CCCATCTGCTGAGAGAAGAGG	0.602																																																	1	Substitution - Missense(1)	cervix(1)											17.0	15.0	16.0					10																	88994238		1838	4018	5856	SO:0001583	missense	728118				CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.2410G>A	10.37:g.88994238G>A	ENSP00000371126:p.Glu804Lys		A6NMX5|C9JDI1|Q5VZW1	Missense_Mutation	SNP	NULL	p.E804K	ENST00000381707.2	37	c.2410	CCDS44452.1	10	.	.	.	.	.	.	.	.	.	.	g	3.451	-0.111941	0.06881	.	.	ENSG00000184923	ENST00000381707;ENST00000416901;ENST00000432986	T	0.12039	2.72	1.05	-0.0392	0.13877	Nuclear Testis protein, C-terminal (1);	2.259380	0.01771	N	0.031184	T	0.05823	0.0152	N	0.05351	-0.065	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23904	-1.0175	10	0.02654	T	1	.	3.1572	0.06508	0.2996:0.4043:0.2961:0.0	.	804	Q8IVF1	FA22A_HUMAN	K	804;731;188	ENSP00000371126:E804K	ENSP00000371126:E804K	E	+	1	0	FAM22A	88984218	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.697000	0.05098	-0.435000	0.07264	-1.973000	0.00462	GAG	FAM22A	-	NULL		0.602	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM22A	HGNC	protein_coding	OTTHUMT00000049198.2	G	NM_001099338		88994238	+1	no_errors	ENST00000381707	ensembl	human	known	70_37	missense	SNP	0.000	A
SUPT20H	55578	genome.wustl.edu	37	13	37598223	37598223	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:37598223G>C	ENST00000350612.6	-	19	1760	c.1540C>G	c.(1540-1542)Caa>Gaa	p.Q514E	SUPT20H_ENST00000356185.3_Missense_Mutation_p.Q515E|SUPT20H_ENST00000360252.4_Missense_Mutation_p.Q515E|SUPT20H_ENST00000475892.1_Missense_Mutation_p.Q514E|SUPT20H_ENST00000542180.1_Missense_Mutation_p.Q478E|SUPT20H_ENST00000464744.1_Missense_Mutation_p.Q515E	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	514					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.Q514E(1)									ATGCTAACTTGATTGAGATCC	0.403																																																	1	Substitution - Missense(1)	cervix(1)											158.0	157.0	157.0					13																	37598223		2203	4300	6503	SO:0001583	missense	55578			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1540C>G	13.37:g.37598223G>C	ENSP00000218894:p.Gln514Glu		E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	pfam_Spt20	p.Q514E	ENST00000350612.6	37	c.1540	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409267	0.62399	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.52295	0.67;0.84;1.24;0.67;0.67;0.72	5.64	5.64	0.86602	.	0.150228	0.46145	D	0.000304	T	0.63414	0.2509	M	0.72894	2.215	0.53688	D	0.999977	P;P;P;P;B;P;B	0.49447	0.924;0.924;0.924;0.86;0.065;0.731;0.065	P;P;P;B;B;B;B	0.62298	0.9;0.9;0.9;0.304;0.019;0.225;0.019	T	0.58640	-0.7601	10	0.02654	T	1	-1.6837	19.7145	0.96110	0.0:0.0:1.0:0.0	.	478;514;514;515;515;514;514	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46	.;.;.;.;.;FA48A_HUMAN;.	E	515;514;514;515;514;515;478	ENSP00000353388:Q515E;ENSP00000417510:Q514E;ENSP00000218894:Q514E;ENSP00000348512:Q515E;ENSP00000419754:Q515E;ENSP00000439000:Q478E	ENSP00000218894:Q514E	Q	-	1	0	FAM48A	36496223	1.000000	0.71417	0.988000	0.46212	0.933000	0.57130	8.278000	0.89899	2.654000	0.90174	0.655000	0.94253	CAA	FAM48A	-	NULL		0.403	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM48A	HGNC	protein_coding	OTTHUMT00000354766.1	G	NM_017569		37598223	-1	no_errors	ENST00000350612	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM50B	26240	genome.wustl.edu	37	6	3850731	3850731	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:3850731C>T	ENST00000380274.1	+	1	1112	c.686C>T	c.(685-687)tCc>tTc	p.S229F	FAM50B_ENST00000380272.3_Missense_Mutation_p.S229F			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	229						nucleus (GO:0005634)		p.S229F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GAGCTGCGCTCCGCCGGCGTG	0.652																																																	1	Substitution - Missense(1)	cervix(1)											50.0	48.0	49.0					6																	3850731		2203	4300	6503	SO:0001583	missense	26240			Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.686C>T	6.37:g.3850731C>T	ENSP00000369627:p.Ser229Phe		Q5T2L6	Missense_Mutation	SNP	pfam_XAP5	p.S229F	ENST00000380274.1	37	c.686	CCDS4487.1	6	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037483	0.54896	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.34	4.34	0.51931	.	0.233678	0.38111	N	0.001808	T	0.55114	0.1900	M	0.78801	2.425	0.09310	N	1	P	0.45531	0.86	P	0.59948	0.866	T	0.47394	-0.9121	9	0.56958	D	0.05	-12.1268	12.6215	0.56605	0.0:1.0:0.0:0.0	.	229	Q9Y247	FA50B_HUMAN	F	229	.	ENSP00000369625:S229F	S	+	2	0	FAM50B	3795730	0.001000	0.12720	0.005000	0.12908	0.988000	0.76386	1.230000	0.32612	2.430000	0.82344	0.555000	0.69702	TCC	FAM50B	-	pfam_XAP5		0.652	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM50B	HGNC	protein_coding	OTTHUMT00000039693.1	C	NM_012135		3850731	+1	no_errors	ENST00000380272	ensembl	human	known	70_37	missense	SNP	0.006	T
FAM53B	9679	genome.wustl.edu	37	10	126384767	126384767	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:126384767C>G	ENST00000337318.3	-	3	304	c.93G>C	c.(91-93)aaG>aaC	p.K31N	FAM53B_ENST00000280780.6_Missense_Mutation_p.K31N|FAM53B_ENST00000392754.3_Missense_Mutation_p.K31N|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	31								p.K31N(1)		cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CTTGACTCATCTTCTTTGGCG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											224.0	211.0	215.0					10																	126384767		2203	4300	6503	SO:0001583	missense	9679			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.93G>C	10.37:g.126384767C>G	ENSP00000338532:p.Lys31Asn		D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	NULL	p.K31N	ENST00000337318.3	37	c.93	CCDS7641.1	10	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754371	0.49362	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.48201	0.82;0.82;0.82	4.94	4.94	0.65067	.	0.137935	0.48286	D	0.000190	T	0.58047	0.2095	L	0.61218	1.895	0.33582	D	0.60004	P;D;P	0.57257	0.944;0.979;0.944	P;P;P	0.53518	0.624;0.728;0.624	T	0.71464	-0.4585	10	0.52906	T	0.07	1.5237	15.1043	0.72310	0.0:1.0:0.0:0.0	.	31;31;31	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	N	31	ENSP00000338532:K31N;ENSP00000376509:K31N;ENSP00000280780:K31N	ENSP00000280780:K31N	K	-	3	2	FAM53B	126374757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.958000	0.56737	2.286000	0.76751	0.603000	0.83216	AAG	FAM53B	-	NULL		0.448	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53B	HGNC	protein_coding	OTTHUMT00000050879.1	C	NM_014661		126384767	-1	no_errors	ENST00000337318	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM57A	79850	genome.wustl.edu	37	17	643789	643789	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:643789C>T	ENST00000308278.8	+	4	689	c.453C>T	c.(451-453)ttC>ttT	p.F151F	FAM57A_ENST00000301324.8_Intron|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	151	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F151F(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		GCTGCATCTTCACGGCAGAAC	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											136.0	131.0	132.0					17																	643789		2203	4300	6503	SO:0001819	synonymous_variant	79850			AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.453C>T	17.37:g.643789C>T			A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Silent	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.F151	ENST00000308278.8	37	c.453	CCDS10996.1	17																																																																																			FAM57A	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom		0.517	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM57A	HGNC	protein_coding	OTTHUMT00000437155.2	C	NM_024792		643789	+1	no_errors	ENST00000308278	ensembl	human	known	70_37	silent	SNP	0.990	T
FAM65B	9750	genome.wustl.edu	37	6	24843776	24843776	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:24843776G>C	ENST00000259698.4	-	14	1409	c.1234C>G	c.(1234-1236)Cta>Gta	p.L412V	FAM65B_ENST00000473070.1_5'Flank|FAM65B_ENST00000510784.2_Missense_Mutation_p.L396V|FAM65B_ENST00000378023.4_Missense_Mutation_p.L362V|FAM65B_ENST00000540914.1_Missense_Mutation_p.L362V|FAM65B_ENST00000538035.1_Missense_Mutation_p.L391V	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	412					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.L412V(1)|p.L362V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCATCAGGTAGATTTGACTAT	0.423																																																	2	Substitution - Missense(2)	cervix(2)											27.0	26.0	26.0					6																	24843776		1878	4104	5982	SO:0001583	missense	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1234C>G	6.37:g.24843776G>C	ENSP00000259698:p.Leu412Val		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L412V	ENST00000259698.4	37	c.1234	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506820	0.44558	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.71581	2.175	0.53005	D	0.999964	D;D;D;D	0.76494	0.999;0.999;0.999;0.964	D;D;D;P	0.87578	0.998;0.998;0.998;0.742	T	0.61013	-0.7148	10	0.25106	T	0.35	-9.2849	5.2821	0.15680	0.252:0.0:0.748:0.0	.	396;391;362;412	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	V	412;391;362;362;396	ENSP00000259698:L412V;ENSP00000441138:L391V;ENSP00000367262:L362V;ENSP00000438425:L362V;ENSP00000441305:L396V	ENSP00000259698:L412V	L	-	1	2	FAM65B	24951755	1.000000	0.71417	0.839000	0.33178	0.472000	0.32918	2.361000	0.44160	2.305000	0.77605	0.561000	0.74099	CTA	FAM65B	-	NULL		0.423	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	G			24843776	-1	no_errors	ENST00000259698	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM71F2	346653	genome.wustl.edu	37	7	128315720	128315720	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:128315720G>A	ENST00000480462.1	+	2	278	c.172G>A	c.(172-174)Gat>Aat	p.D58N	FAM71F2_ENST00000378704.3_Intron|FAM71F2_ENST00000477515.1_Missense_Mutation_p.D58N|FAM71F2_ENST00000460349.1_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	58								p.D58N(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						ACCTGAGGCTGATTTCCAGGT	0.577																																																	1	Substitution - Missense(1)	cervix(1)											51.0	54.0	53.0					7																	128315720		1994	4171	6165	SO:0001583	missense	346653			BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.172G>A	7.37:g.128315720G>A	ENSP00000420140:p.Asp58Asn		Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	pfam_DUF3699	p.D58N	ENST00000480462.1	37	c.172	CCDS47701.1	7	.	.	.	.	.	.	.	.	.	.	G	8.203	0.798564	0.16397	.	.	ENSG00000205085	ENST00000480462;ENST00000477515	T;T	0.35421	3.24;1.31	4.67	-0.4	0.12411	.	.	.	.	.	T	0.19604	0.0471	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05852	-1.0860	9	0.54805	T	0.06	-7.5248	3.5007	0.07672	0.3857:0.0:0.4414:0.1729	.	58	Q6NXP2	F71F2_HUMAN	N	58	ENSP00000420140:D58N;ENSP00000419649:D58N	ENSP00000419649:D58N	D	+	1	0	FAM71F2	128102956	0.888000	0.30383	0.629000	0.29254	0.164000	0.22412	1.390000	0.34464	-0.178000	0.10672	-0.259000	0.10710	GAT	FAM71F2	-	NULL		0.577	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FAM71F2	HGNC	protein_coding	OTTHUMT00000350537.1	G			128315720	+1	no_errors	ENST00000480462	ensembl	human	known	70_37	missense	SNP	0.498	A
FAM83B	222584	genome.wustl.edu	37	6	54735070	54735070	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:54735070C>T	ENST00000306858.7	+	2	142	c.26C>T	c.(25-27)tCa>tTa	p.S9L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	9								p.S9L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATGCTTTCCTCATTGAATGAT	0.408																																																	1	Substitution - Missense(1)	cervix(1)											139.0	120.0	126.0					6																	54735070		2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.26C>T	6.37:g.54735070C>T	ENSP00000304078:p.Ser9Leu		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.S9L	ENST00000306858.7	37	c.26	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891417	0.91889	.	.	ENSG00000168143	ENST00000306858	T	0.17691	2.26	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28870	-1.0030	10	0.62326	D	0.03	-17.6023	18.8374	0.92168	0.0:1.0:0.0:0.0	.	9	Q5T0W9	FA83B_HUMAN	L	9	ENSP00000304078:S9L	ENSP00000304078:S9L	S	+	2	0	FAM83B	54843029	1.000000	0.71417	0.850000	0.33497	0.994000	0.84299	5.516000	0.67055	2.525000	0.85131	0.467000	0.42956	TCA	FAM83B	-	NULL		0.408	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	C	XM_294139		54735070	+1	no_errors	ENST00000306858	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM86EP	348926	genome.wustl.edu	37	4	3949518	3949518	+	RNA	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:3949518C>T	ENST00000313946.8	-	0	584				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		GACAGACCGTCGCGACGTCCC	0.602																																																	0																																												348926					4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3949518C>T				RNA	SNP	-	NULL	ENST00000313946.8	37	NULL		4																																																																																			FAM86EP	-	-		0.602	FAM86EP-002	KNOWN	basic	processed_transcript	FAM86EP	HGNC	pseudogene	OTTHUMT00000357822.1	C			3949518	-1	no_errors	ENST00000313946	ensembl	human	known	70_37	rna	SNP	0.144	T
FANK1	92565	genome.wustl.edu	37	10	127693572	127693572	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:127693572G>A	ENST00000368693.1	+	7	763	c.659G>A	c.(658-660)gGa>gAa	p.G220E	FANK1_ENST00000368695.1_Missense_Mutation_p.G214E|FANK1_ENST00000477963.1_3'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	220						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G220E(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GCTGCAGATGGAGGCCACTGC	0.522																																																	1	Substitution - Missense(1)	cervix(1)											173.0	158.0	163.0					10																	127693572		2203	4300	6503	SO:0001583	missense	92565			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.659G>A	10.37:g.127693572G>A	ENSP00000357682:p.Gly220Glu		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt	p.G220E	ENST00000368693.1	37	c.659	CCDS31309.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.508674|4.508674	0.85282|0.85282	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000456942|ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692	.|T;T;T	.|0.63580	.|-0.03;-0.03;-0.05	5.79|5.79	5.79|5.79	0.91817|0.91817	.|Ankyrin repeat-containing domain (3);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.67906|0.67906	0.2943|0.2943	N|N	0.16368|0.16368	0.405|0.405	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.69064|0.69064	-0.5244|-0.5244	5|10	.|0.42905	.|T	.|0.14	-29.9|-29.9	18.8114|18.8114	0.92059|0.92059	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|246;220;220	.|Q8TC84-3;Q8TC84-2;Q8TC84	.|.;.;FANK1_HUMAN	K|E	115|214;220;198;246	.|ENSP00000357684:G214E;ENSP00000357682:G220E;ENSP00000357680:G198E	.|ENSP00000357680:G198E	E|G	+|+	1|2	0|0	FANK1|FANK1	127683562|127683562	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.917000|0.917000	0.54804|0.54804	6.447000|6.447000	0.73465|0.73465	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAG|GGA	FANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.522	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FANK1	HGNC	protein_coding		G	NM_145235		127693572	+1	no_errors	ENST00000368693	ensembl	human	known	70_37	missense	SNP	1.000	A
FARP2	9855	genome.wustl.edu	37	2	242430942	242430942	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:242430942G>C	ENST00000264042.3	+	24	2805	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	879					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E879Q(1)|p.E879K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ATCCCCCAACGAGGTATCTCT	0.627																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|cervix(1)											39.0	43.0	42.0					2																	242430942		2203	4299	6502	SO:0001583	missense	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2635G>C	2.37:g.242430942G>C	ENSP00000264042:p.Glu879Gln		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E879Q	ENST00000264042.3	37	c.2635	CCDS33424.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.46|17.46	3.394833|3.394833	0.62066|0.62066	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000264042|ENST00000444371	T|.	0.11712|.	2.75|.	4.73|4.73	2.89|2.89	0.33648|0.33648	.|.	0.468713|.	0.24463|.	N|.	0.038301|.	T|T	0.61850|0.61850	0.2380|0.2380	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.57124|0.57124	-0.7865|-0.7865	10|5	0.48119|.	T|.	0.1|.	.|.	9.9057|9.9057	0.41375|0.41375	0.0765:0.1401:0.7834:0.0|0.0765:0.1401:0.7834:0.0	.|.	879|.	O94887|.	FARP2_HUMAN|.	Q|P	879|72	ENSP00000264042:E879Q|.	ENSP00000264042:E879Q|.	E|R	+|+	1|2	0|0	FARP2|FARP2	242079615|242079615	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	4.483000|4.483000	0.60264|0.60264	0.526000|0.526000	0.28541|0.28541	-0.176000|-0.176000	0.13171|0.13171	GAG|CGA	FARP2	-	NULL		0.627	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	G			242430942	+1	no_errors	ENST00000264042	ensembl	human	known	70_37	missense	SNP	0.995	C
FASLG	356	genome.wustl.edu	37	1	172635076	172635076	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:172635076C>T	ENST00000367721.2	+	4	950	c.766C>T	c.(766-768)Cat>Tat	p.H256Y	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	256					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.H256Y(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CAGTGCTGATCATTTATATGT	0.473																																					Ovarian(28;486 876 30334 44033)												1	Substitution - Missense(1)	cervix(1)											88.0	86.0	87.0					1																	172635076		2203	4300	6503	SO:0001583	missense	356			U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.766C>T	1.37:g.172635076C>T	ENSP00000356694:p.His256Tyr		Q9BZP9	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_Fas_ligand,prints_TNF_a/b/c,prints_TNF_C	p.H256Y	ENST00000367721.2	37	c.766	CCDS1304.1	1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717052	0.30413	.	.	ENSG00000117560	ENST00000367721	D	0.94537	-3.45	5.34	2.04	0.26737	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.784863	0.11879	N	0.520684	D	0.83170	0.5196	L	0.40543	1.245	0.09310	N	1	P	0.42357	0.777	B	0.38880	0.284	T	0.73591	-0.3934	10	0.33141	T	0.24	-1.0847	7.8258	0.29313	0.3845:0.5295:0.0:0.086	.	256	P48023	TNFL6_HUMAN	Y	256	ENSP00000356694:H256Y	ENSP00000356694:H256Y	H	+	1	0	FASLG	170901699	0.423000	0.25482	0.737000	0.30932	0.790000	0.44656	1.126000	0.31344	0.630000	0.30394	0.650000	0.86243	CAT	FASLG	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_Fas_ligand,prints_TNF_a/b/c,prints_TNF_C		0.473	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASLG	HGNC	protein_coding	OTTHUMT00000084276.1	C			172635076	+1	no_errors	ENST00000367721	ensembl	human	known	70_37	missense	SNP	0.030	T
FASTKD1	79675	genome.wustl.edu	37	2	170396650	170396650	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:170396650G>C	ENST00000453153.2	-	10	2202	c.1856C>G	c.(1855-1857)tCt>tGt	p.S619C	FASTKD1_ENST00000453929.2_Missense_Mutation_p.S619C|FASTKD1_ENST00000495505.1_5'Flank	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	619					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.S619C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TGTGGCCAAAGAGAAACCAAG	0.289																																																	1	Substitution - Missense(1)	cervix(1)											28.0	30.0	29.0					2																	170396650		2194	4278	6472	SO:0001583	missense	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1856C>G	2.37:g.170396650G>C	ENSP00000400513:p.Ser619Cys		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.S619C	ENST00000453153.2	37	c.1856	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031846	0.54790	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.66460	-0.21;-0.21	5.47	4.59	0.56863	FAST kinase leucine-rich (1);	0.498021	0.23291	N	0.049794	T	0.78842	0.4347	M	0.78916	2.43	0.09310	N	0.999997	D;D	0.76494	0.999;0.999	D;D	0.65443	0.927;0.935	T	0.70821	-0.4768	10	0.72032	D	0.01	-22.7267	9.8095	0.40815	0.1738:0.0:0.8262:0.0	.	619;619	Q53R41-2;Q53R41	.;FAKD1_HUMAN	C	619	ENSP00000400513:S619C;ENSP00000403229:S619C	ENSP00000400513:S619C	S	-	2	0	FASTKD1	170104896	0.840000	0.29493	1.000000	0.80357	0.986000	0.74619	3.335000	0.52105	1.301000	0.44836	0.655000	0.94253	TCT	FASTKD1	-	pfam_FAST_Leu-rich		0.289	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	G	NM_024622		170396650	-1	no_errors	ENST00000453153	ensembl	human	known	70_37	missense	SNP	0.112	C
FAT2	2196	genome.wustl.edu	37	5	150892005	150892005	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:150892005G>T	ENST00000261800.5	-	20	11638	c.11626C>A	c.(11626-11628)Ctt>Att	p.L3876I	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3876	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.L3876I(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)			GGGACCACAAGGGAGGTGTTG	0.587																																																	1	Substitution - Missense(1)	cervix(1)											109.0	98.0	102.0					5																	150892005		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.11626C>A	5.37:g.150892005G>T	ENSP00000261800:p.Leu3876Ile		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.L3876I	ENST00000261800.5	37	c.11626	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134889	0.37728	.	.	ENSG00000086570	ENST00000261800	T	0.77358	-1.09	5.02	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.51477	D	0.000084	T	0.74366	0.3707	M	0.62723	1.935	0.20926	N	0.999825	P	0.43578	0.811	B	0.40602	0.334	T	0.69960	-0.5003	9	.	.	.	.	13.708	0.62651	0.0:0.0:0.8471:0.1529	.	3876	Q9NYQ8	FAT2_HUMAN	I	3876	ENSP00000261800:L3876I	.	L	-	1	0	FAT2	150872198	1.000000	0.71417	0.900000	0.35374	0.246000	0.25737	4.197000	0.58413	2.479000	0.83701	0.561000	0.74099	CTT	FAT2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.587	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150892005	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.353	T
FAT2	2196	genome.wustl.edu	37	5	150932740	150932740	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:150932740G>C	ENST00000261800.5	-	5	4166	c.4154C>G	c.(4153-4155)tCa>tGa	p.S1385*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1385	Cadherin 12. {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.S1385*(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)			TGCCTCACCTGAGATGTTGAA	0.547																																																	1	Substitution - Nonsense(1)	cervix(1)											83.0	80.0	81.0					5																	150932740		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.4154C>G	5.37:g.150932740G>C	ENSP00000261800:p.Ser1385*		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.S1385*	ENST00000261800.5	37	c.4154	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	44	10.707171	0.99454	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.23	5.23	0.72850	.	0.442716	0.19308	N	0.117466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	17.8145	0.88627	0.0:0.0:1.0:0.0	.	.	.	.	X	1385	.	ENSP00000261800:S1385X	S	-	2	0	FAT2	150912933	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.794000	0.55492	2.453000	0.82957	0.561000	0.74099	TCA	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150932740	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	nonsense	SNP	1.000	C
FAT2	2196	genome.wustl.edu	37	5	150947186	150947186	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:150947186G>A	ENST00000261800.5	-	1	1319	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	436	Cadherin 3. {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.S436L(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)			CTGGCCCGGTGAGGTTCTGAT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											131.0	127.0	128.0					5																	150947186		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.1307C>T	5.37:g.150947186G>A	ENSP00000261800:p.Ser436Leu		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.S436L	ENST00000261800.5	37	c.1307	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	8.371	0.835262	0.16820	.	.	ENSG00000086570	ENST00000261800	T	0.61158	0.13	5.59	5.59	0.84812	Cadherin (3);Cadherin-like (1);	0.334395	0.25729	N	0.028695	T	0.52058	0.1711	L	0.52573	1.65	0.21064	N	0.999797	B	0.28713	0.22	B	0.24541	0.054	T	0.47100	-0.9143	10	0.36615	T	0.2	.	15.7496	0.77972	0.0:0.2739:0.7261:0.0	.	436	Q9NYQ8	FAT2_HUMAN	L	436	ENSP00000261800:S436L	ENSP00000261800:S436L	S	-	2	0	FAT2	150927379	0.066000	0.20996	0.247000	0.24249	0.514000	0.34195	1.745000	0.38278	2.642000	0.89623	0.561000	0.74099	TCA	FAT2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150947186	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.266	A
FBLN2	2199	genome.wustl.edu	37	3	13679362	13679362	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:13679362delC	ENST00000295760.7	+	17	3567	c.3498delC	c.(3496-3498)ggcfs	p.G1166fs	FBLN2_ENST00000535798.1_Frame_Shift_Del_p.G1192fs|FBLN2_ENST00000404922.3_Frame_Shift_Del_p.G1213fs|FBLN2_ENST00000492059.1_Frame_Shift_Del_p.G1213fs	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1166	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGAGGCAGGGCTCCGTCACCA	0.657																																																	0													109.0	120.0	117.0					3																	13679362		2102	4230	6332	SO:0001589	frameshift_variant	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3498delC	3.37:g.13679362delC	ENSP00000295760:p.Gly1166fs		B7Z9C5|Q8IUI0|Q8IUI1	Frame_Shift_Del	DEL	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.S1214fs	ENST00000295760.7	37	c.3639	CCDS46762.1	3																																																																																			FBLN2	-	NULL		0.657	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	C	NM_001004019		13679362	+1	no_errors	ENST00000404922	ensembl	human	known	70_37	frame_shift_del	DEL	0.989	-
FBXL20	84961	genome.wustl.edu	37	17	37499465	37499465	+	Missense_Mutation	SNP	G	G	C	rs374565541		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:37499465G>C	ENST00000264658.6	-	2	332	c.72C>G	c.(70-72)atC>atG	p.I24M	FBXL20_ENST00000583610.1_Missense_Mutation_p.I24M|FBXL20_ENST00000577399.1_Missense_Mutation_p.I26M|FBXL20_ENST00000394294.3_Missense_Mutation_p.I24M	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	24	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.I24M(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GTTTTTTATTGATTACAGCTT	0.284																																																	1	Substitution - Missense(1)	cervix(1)											99.0	98.0	98.0					17																	37499465		2203	4294	6497	SO:0001583	missense	84961			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.72C>G	17.37:g.37499465G>C	ENSP00000264658:p.Ile24Met		A8K729|Q38J52	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.I24M	ENST00000264658.6	37	c.72	CCDS32640.1	17	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229602	0.58777	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.13778	2.62;2.56	5.53	3.54	0.40534	F-box domain, cyclin-like (1);	0.103809	0.64402	D	0.000005	T	0.17789	0.0427	L	0.38953	1.18	0.54753	D	0.999985	D;B	0.53151	0.958;0.411	P;P	0.52424	0.698;0.695	T	0.00822	-1.1552	10	0.66056	D	0.02	.	9.9268	0.41496	0.1614:0.0:0.8386:0.0	.	24;24	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	M	24	ENSP00000264658:I24M;ENSP00000377832:I24M	ENSP00000264658:I24M	I	-	3	3	FBXL20	34752991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.848000	0.39309	0.697000	0.31718	0.643000	0.83706	ATC	FBXL20	-	pfscan_F-box_dom_cyclin-like		0.284	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL20	HGNC	protein_coding	OTTHUMT00000444315.2	G	NM_032875		37499465	-1	no_errors	ENST00000264658	ensembl	human	known	70_37	missense	SNP	1.000	C
FBXO24	26261	genome.wustl.edu	37	7	100189465	100189465	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:100189465C>T	ENST00000241071.6	+	4	820	c.498C>T	c.(496-498)ctC>ctT	p.L166L	FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000360609.2_Silent_p.L152L|FBXO24_ENST00000468962.1_Silent_p.L154L|FBXO24_ENST00000427939.2_Silent_p.L204L|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.L152L|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	166					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L166L(1)|p.L204L(1)		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)					TCTCCACCCTCGGCCAGATGC	0.577																																																	2	Substitution - coding silent(2)	cervix(2)											90.0	83.0	85.0					7																	100189465		2203	4300	6503	SO:0001819	synonymous_variant	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.498C>T	7.37:g.100189465C>T			A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	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.L204	ENST00000241071.6	37	c.612	CCDS5698.1	7																																																																																			FBXO24	-	NULL		0.577	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	C			100189465	+1	no_errors	ENST00000427939	ensembl	human	known	70_37	silent	SNP	0.990	T
FBXO42	54455	genome.wustl.edu	37	1	16577299	16577299	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16577299G>T	ENST00000375592.3	-	10	2236	c.2020C>A	c.(2020-2022)Cct>Act	p.P674T		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	674								p.P674T(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTGGTTTCAGGAGGTCCAACC	0.468																																																	1	Substitution - Missense(1)	cervix(1)											191.0	182.0	185.0					1																	16577299		2203	4300	6503	SO:0001583	missense	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2020C>A	1.37:g.16577299G>T	ENSP00000364742:p.Pro674Thr		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.P674T	ENST00000375592.3	37	c.2020	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896380	0.72639	.	.	ENSG00000037637	ENST00000375592	T	0.05258	3.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.39057	-0.9632	10	0.66056	D	0.02	-14.8175	18.7864	0.91957	0.0:0.0:1.0:0.0	.	674	Q6P3S6	FBX42_HUMAN	T	674	ENSP00000364742:P674T	ENSP00000364742:P674T	P	-	1	0	FBXO42	16449886	1.000000	0.71417	0.989000	0.46669	0.900000	0.52787	9.576000	0.98192	2.767000	0.95098	0.655000	0.94253	CCT	FBXO42	-	NULL		0.468	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	G			16577299	-1	no_errors	ENST00000375592	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXO46	23403	genome.wustl.edu	37	19	46215971	46215971	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:46215971G>A	ENST00000317683.3	-	2	916	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	261								p.I261I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGCGGAAGGCGATGCGCACCT	0.731																																																	1	Substitution - coding silent(1)	cervix(1)											22.0	25.0	24.0					19																	46215971		1953	4111	6064	SO:0001819	synonymous_variant	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.783C>T	19.37:g.46215971G>A				Silent	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.I261	ENST00000317683.3	37	c.783	CCDS46116.1	19																																																																																			FBXO46	-	NULL		0.731	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	G	XM_371179		46215971	-1	no_errors	ENST00000317683	ensembl	human	known	70_37	silent	SNP	0.632	A
FBXW2	26190	genome.wustl.edu	37	9	123533705	123533705	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:123533705G>A	ENST00000608872.1	-	7	1184	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	FBXW2_ENST00000340778.5_Missense_Mutation_p.H268Y|FBXW2_ENST00000493559.1_5'UTR	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	333					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)	p.H333Y(1)		ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CCATCAAAATGAAGTCTTGGC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											100.0	90.0	93.0					9																	123533705		1885	4121	6006	SO:0001583	missense	26190			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.997C>T	9.37:g.123533705G>A	ENSP00000476369:p.His333Tyr		B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H333Y	ENST00000608872.1	37	c.997	CCDS43872.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635683	0.87760	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833;ENST00000453291	T;T;T	0.55052	2.17;2.17;0.54	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.097337	0.64402	D	0.000001	T	0.38719	0.1051	N	0.22421	0.69	0.58432	D	0.999997	B;P;B	0.39282	0.378;0.666;0.261	B;B;B	0.32465	0.146;0.14;0.069	T	0.29212	-1.0019	10	0.39692	T	0.17	-6.7485	17.491	0.87703	0.0:0.0:1.0:0.0	.	268;333;333	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	Y	333;268;333;204	ENSP00000363036:H333Y;ENSP00000341161:H268Y;ENSP00000398662:H204Y	ENSP00000341161:H268Y	H	-	1	0	FBXW2	122573526	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CAT	FBXW2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.413	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2	G			123533705	-1	no_errors	ENST00000373926	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXW9	84261	genome.wustl.edu	37	19	12800031	12800031	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:12800031C>T	ENST00000380339.3	-	10	1502	c.1466G>A	c.(1465-1467)tGa>tAa	p.*489*	FBXW9_ENST00000587955.1_Silent_p.*479*|FBXW9_ENST00000393261.3_Silent_p.*459*|CTD-2659N19.2_ENST00000585742.1_RNA|CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000544494.1_Silent_p.*197*			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	0					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.*459*(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCACCTGCTCAGGCCTGCAG	0.647																																																	1	Substitution - coding silent(1)	cervix(1)											48.0	48.0	48.0					19																	12800031		2203	4300	6503	SO:0001819	synonymous_variant	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1466G>A	19.37:g.12800031C>T			B3KVP7|Q9BT89	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.*489	ENST00000380339.3	37	c.1466		19																																																																																			FBXW9	-	NULL		0.647	FBXW9-201	KNOWN	basic	protein_coding	FBXW9	HGNC	protein_coding		C	NM_032301		12800031	-1	no_errors	ENST00000380339	ensembl	human	known	70_37	silent	SNP	1.000	T
FCHO2	115548	genome.wustl.edu	37	5	72311459	72311459	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:72311459C>G	ENST00000430046.2	+	7	723	c.607C>G	c.(607-609)Caa>Gaa	p.Q203E	FCHO2_ENST00000287761.6_Missense_Mutation_p.Q203E|FCHO2_ENST00000341845.6_Missense_Mutation_p.Q203E|FCHO2_ENST00000512348.1_Intron	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	203	Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.Q203E(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CCAGAAATTTCAAGATATTGA	0.303																																																	2	Substitution - Missense(2)	cervix(2)											61.0	60.0	60.0					5																	72311459		1790	4048	5838	SO:0001583	missense	115548			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.607C>G	5.37:g.72311459C>G	ENSP00000393776:p.Gln203Glu		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH	p.Q203E	ENST00000430046.2	37	c.607	CCDS47230.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.097734|4.097734	0.76870|0.76870	.|.	.|.	ENSG00000157107|ENSG00000157107	ENST00000507345|ENST00000430046;ENST00000341845;ENST00000287761	.|T;T;T	.|0.57436	.|0.4;0.4;0.4	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.050969	.|0.85682	.|D	.|0.000000	T|T	0.71600|0.71600	0.3359|0.3359	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.277	.|D;B	.|0.68765	.|0.96;0.076	T|T	0.68368|0.68368	-0.5427|-0.5427	6|10	0.23302|0.34782	T|T	0.38|0.22	-12.472|-12.472	19.2851|19.2851	0.94067|0.94067	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|203;203	.|Q0JRZ9-2;Q0JRZ9	.|.;FCHO2_HUMAN	L|E	172|203	.|ENSP00000393776:Q203E;ENSP00000344034:Q203E;ENSP00000287761:Q203E	ENSP00000426842:F172L|ENSP00000287761:Q203E	F|Q	+|+	3|1	2|0	FCHO2|FCHO2	72347215|72347215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.497000|4.497000	0.60367|0.60367	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	TTC|CAA	FCHO2	-	NULL		0.303	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	C	XM_291142		72311459	+1	no_errors	ENST00000341845	ensembl	human	known	70_37	missense	SNP	1.000	G
FCHSD1	89848	genome.wustl.edu	37	5	141023934	141023934	+	Missense_Mutation	SNP	G	G	C	rs139206388	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:141023934G>C	ENST00000435817.2	-	17	1764	c.1714C>G	c.(1714-1716)Ctc>Gtc	p.L572V	FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.L498V	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	572	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.							p.L572V(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGGATGAGTGCCCCCTCA	0.627																																																	1	Substitution - Missense(1)	cervix(1)											37.0	42.0	40.0					5																	141023934		1930	4127	6057	SO:0001583	missense	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1714C>G	5.37:g.141023934G>C	ENSP00000399259:p.Leu572Val		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.L572V	ENST00000435817.2	37	c.1714	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056733	0.36277	.	.	ENSG00000197948	ENST00000435817;ENST00000522783	T;T	0.40476	1.03;1.03	5.44	2.59	0.31030	Src homology-3 domain (3);Variant SH3 (1);	0.248291	0.32175	N	0.006471	T	0.12689	0.0308	N	0.00783	-1.19	0.80722	D	1	P;B	0.38335	0.627;0.379	B;B	0.40329	0.295;0.326	T	0.05370	-1.0889	10	0.11182	T	0.66	-12.0057	5.4579	0.16600	0.1565:0.0:0.4393:0.4042	.	252;572	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	V	572;498	ENSP00000399259:L572V;ENSP00000428677:L498V	ENSP00000399259:L572V	L	-	1	0	FCHSD1	141004118	0.868000	0.29978	0.650000	0.29550	0.867000	0.49689	1.230000	0.32612	0.827000	0.34685	0.655000	0.94253	CTC	FCHSD1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.627	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	G	NM_033449		141023934	-1	no_errors	ENST00000435817	ensembl	human	known	70_37	missense	SNP	0.814	C
FCN3	8547	genome.wustl.edu	37	1	27700642	27700642	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:27700642C>G	ENST00000270879.4	-	3	193				FCN3_ENST00000354982.2_Intron	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		cttatcctctctgaacctccc	0.512																																																	0																																										SO:0001627	intron_variant	8547			D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.188-142G>C	1.37:g.27700642C>G			Q6IBJ5|Q8WW86	RNA	SNP	-	NULL	ENST00000270879.4	37	NULL	CCDS300.1	1																																																																																			FCN3	-	-		0.512	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCN3	HGNC	protein_coding	OTTHUMT00000015667.1	C			27700642	-1	no_errors	ENST00000481748	ensembl	human	known	70_37	rna	SNP	0.000	G
FCRL6	343413	genome.wustl.edu	37	1	159778006	159778006	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:159778006G>C	ENST00000368106.3	+	3	92	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	FCRL6_ENST00000321935.6_Missense_Mutation_p.E38Q|FCRL6_ENST00000392235.3_Missense_Mutation_p.E31Q|FCRL6_ENST00000339348.5_Missense_Mutation_p.E31Q	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	31	Ig-like C2-type 1.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.E31Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCCTGTGTTTGAAGGAGATGC	0.517																																																	1	Substitution - Missense(1)	cervix(1)											67.0	59.0	62.0					1																	159778006		2203	4300	6503	SO:0001583	missense	343413			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.91G>C	1.37:g.159778006G>C	ENSP00000357086:p.Glu31Gln		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E31Q	ENST00000368106.3	37	c.91	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255063	0.59321	.	.	ENSG00000181036	ENST00000321935;ENST00000536257;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	3.68	3.68	0.42216	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30603	0.0770	M	0.92923	3.36	0.27432	N	0.953963	D;D;D;D;D	0.76494	0.981;0.997;0.999;0.999;0.996	P;D;D;D;P	0.75020	0.832;0.977;0.964;0.985;0.866	T	0.14200	-1.0481	9	0.37606	T	0.19	.	11.2473	0.49004	0.0:0.0:1.0:0.0	.	26;31;31;31;38	B7Z710;Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;.;FCRL6_HUMAN;.	Q	38;26;31;31;31	ENSP00000320625:E38Q;ENSP00000440712:E26Q;ENSP00000340949:E31Q;ENSP00000376068:E31Q;ENSP00000357086:E31Q	ENSP00000320625:E38Q	E	+	1	0	FCRL6	158044630	1.000000	0.71417	0.929000	0.37066	0.056000	0.15407	4.104000	0.57790	1.763000	0.52060	0.305000	0.20034	GAA	FCRL6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.517	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	G	NM_001004310		159778006	+1	no_errors	ENST00000368106	ensembl	human	known	70_37	missense	SNP	0.998	C
FERMT3	83706	genome.wustl.edu	37	11	63990556	63990556	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:63990556C>T	ENST00000279227.5	+	14	1814	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	TRPT1_ENST00000540472.1_5'Flank|FERMT3_ENST00000345728.5_Silent_p.I569I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	573					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)	p.I573I(1)|p.I569I(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TCCTGGGCATCGCCAACAACC	0.622																																																	2	Substitution - coding silent(2)	cervix(2)											106.0	81.0	89.0					11																	63990556		2201	4297	6498	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.1719C>T	11.37:g.63990556C>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.I573	ENST00000279227.5	37	c.1719	CCDS8060.1	11																																																																																			FERMT3	-	NULL		0.622	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1	C	NM_031471		63990556	+1	no_errors	ENST00000279227	ensembl	human	known	70_37	silent	SNP	0.611	T
FEZ1	9638	genome.wustl.edu	37	11	125325883	125325883	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:125325883C>G	ENST00000278919.3	-	6	1021	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	263					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.E263Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		ACTTCCTTCTCAAACTCCAGC	0.557																																					Melanoma(180;509 2033 10762 15939 24711)												1	Substitution - Missense(1)	cervix(1)											106.0	103.0	104.0					11																	125325883		2201	4299	6500	SO:0001583	missense	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.787G>C	11.37:g.125325883C>G	ENSP00000278919:p.Glu263Gln		O00679|O00728|Q6IBI7	Missense_Mutation	SNP	pfam_FEZ	p.E263Q	ENST00000278919.3	37	c.787	CCDS31716.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.363373	0.95877	.	.	ENSG00000149557	ENST00000278919	T	0.54866	0.55	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.79405	-0.1817	10	0.87932	D	0	-6.9402	19.3502	0.94381	0.0:1.0:0.0:0.0	.	234;263	B4DKG5;Q99689	.;FEZ1_HUMAN	Q	263	ENSP00000278919:E263Q	ENSP00000278919:E263Q	E	-	1	0	FEZ1	124831093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.747000	0.85070	2.660000	0.90430	0.655000	0.94253	GAG	FEZ1	-	pfam_FEZ		0.557	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	C	NM_005103		125325883	-1	no_errors	ENST00000278919	ensembl	human	known	70_37	missense	SNP	1.000	G
FGA	2243	genome.wustl.edu	37	4	155505632	155505632	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:155505632C>G	ENST00000302053.3	-	6	2323	c.2245G>C	c.(2245-2247)Gaa>Caa	p.E749Q		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	749	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.E749Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCATAGCCTTCAGCCTCAGAG	0.517																																					NSCLC(143;340 1922 20892 22370 48145)												1	Substitution - Missense(1)	cervix(1)											134.0	130.0	132.0					4																	155505632		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2245G>C	4.37:g.155505632C>G	ENSP00000306361:p.Glu749Gln		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E749Q	ENST00000302053.3	37	c.2245	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	9.371	1.070539	0.20147	.	.	ENSG00000171560	ENST00000302053	D	0.97303	-4.33	5.7	4.87	0.63330	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.045523	0.85682	D	0.000000	D	0.95127	0.8421	L	0.52266	1.64	0.80722	D	1	B	0.21147	0.052	B	0.20955	0.032	D	0.92778	0.6238	10	0.45353	T	0.12	.	14.9049	0.70711	0.0:0.9312:0.0:0.0688	.	749	P02671	FIBA_HUMAN	Q	749	ENSP00000306361:E749Q	ENSP00000306361:E749Q	E	-	1	0	FGA	155725082	0.991000	0.36638	0.040000	0.18447	0.042000	0.13812	2.946000	0.49050	1.418000	0.47098	-0.143000	0.13931	GAA	FGA	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.517	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	C	NM_000508		155505632	-1	no_errors	ENST00000302053	ensembl	human	known	70_37	missense	SNP	0.993	G
FGD6	55785	genome.wustl.edu	37	12	95535261	95535261	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:95535261C>G	ENST00000343958.4	-	6	2963	c.2740G>C	c.(2740-2742)Gag>Cag	p.E914Q	FGD6_ENST00000549499.1_Missense_Mutation_p.E914Q|FGD6_ENST00000546711.1_Missense_Mutation_p.E914Q	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	914	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E914Q(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATCCGGTCCTCAATCACTGGT	0.453																																																	1	Substitution - Missense(1)	cervix(1)											124.0	113.0	117.0					12																	95535261		2203	4300	6503	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2740G>C	12.37:g.95535261C>G	ENSP00000344446:p.Glu914Gln		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E914Q	ENST00000343958.4	37	c.2740	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906827	0.92107	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.63417	-0.04;-0.04;-0.04	5.66	5.66	0.87406	Dbl homology (DH) domain (5);	0.000000	0.48286	D	0.000199	T	0.77184	0.4093	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.75485	-0.3301	10	0.45353	T	0.12	-28.0573	19.7628	0.96329	0.0:1.0:0.0:0.0	.	914	Q6ZV73	FGD6_HUMAN	Q	914	ENSP00000344446:E914Q;ENSP00000450342:E914Q;ENSP00000449005:E914Q	ENSP00000344446:E914Q	E	-	1	0	FGD6	94059392	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.430000	0.80321	2.653000	0.90120	0.563000	0.77884	GAG	FGD6	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.453	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	C	NM_018351		95535261	-1	no_errors	ENST00000343958	ensembl	human	known	70_37	missense	SNP	1.000	G
FGF17	8822	genome.wustl.edu	37	8	21904123	21904123	+	Missense_Mutation	SNP	G	G	C	rs200608386		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:21904123G>C	ENST00000359441.3	+	4	839	c.336G>C	c.(334-336)aaG>aaC	p.K112N	FGF17_ENST00000518533.1_Missense_Mutation_p.K101N|FGF17_ENST00000521709.1_Intron	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	112					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)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.K112N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GTATGAACAAGAGGGGCAAGC	0.567																																																	1	Substitution - Missense(1)	cervix(1)											91.0	78.0	83.0					8																	21904123		2203	4300	6503	SO:0001583	missense	8822			AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.336G>C	8.37:g.21904123G>C	ENSP00000352414:p.Lys112Asn		B7ZLG4|Q2M2W1	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.K112N	ENST00000359441.3	37	c.336	CCDS6019.1	8	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614293	0.46631	.	.	ENSG00000158815	ENST00000518533;ENST00000359441	D;D	0.89939	-2.59;-2.59	4.84	3.96	0.45880	.	0.070767	0.56097	D	0.000031	D	0.83741	0.5320	M	0.64170	1.965	0.36258	D	0.854379	B;P	0.37466	0.361;0.596	B;B	0.31016	0.073;0.123	D	0.84641	0.0695	10	0.56958	D	0.05	-32.3971	7.4291	0.27118	0.1963:0.0:0.8037:0.0	.	101;112	O60258-2;O60258	.;FGF17_HUMAN	N	101;112	ENSP00000431041:K101N;ENSP00000352414:K112N	ENSP00000352414:K112N	K	+	3	2	FGF17	21960069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.408000	0.44574	1.034000	0.39945	0.561000	0.74099	AAG	FGF17	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF		0.567	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF17	HGNC	protein_coding	OTTHUMT00000214154.2	G	NM_003867		21904123	+1	no_errors	ENST00000359441	ensembl	human	known	70_37	missense	SNP	1.000	C
FGF2	2247	genome.wustl.edu	37	4	123748407	123748407	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:123748407C>G	ENST00000608478.1	+	1	422	c.78C>G	c.(76-78)ttC>ttG	p.F26L	FGF2_ENST00000264498.3_Missense_Mutation_p.F159L|AC021205.1_ENST00000517260.1_RNA			P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	159					activation of MAPK activity (GO:0000187)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|embryonic morphogenesis (GO:0048598)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hyaluronan catabolic process (GO:0030214)|innate immune response (GO:0045087)|inositol phosphate biosynthetic process (GO:0032958)|insulin receptor signaling pathway (GO:0008286)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell death (GO:0060548)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of wound healing (GO:0061045)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell fate specification (GO:0042660)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|release of sequestered calcium ion into cytosol (GO:0051209)|signal transduction (GO:0007165)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.F159L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)|Sirolimus(DB00877)|Sucralfate(DB00364)	CCGGCCACTTCAAGGACCCCA	0.711																																																	1	Substitution - Missense(1)	cervix(1)											12.0	15.0	14.0					4																	123748407		1720	3702	5422	SO:0001583	missense	2247			J04513	CCDS34059.1	4q26	2014-01-30			ENSG00000138685	ENSG00000138685		"""Endogenous ligands"""	3676	protein-coding gene	gene with protein product		134920		FGFB		9925931	Standard	NM_002006		Approved		uc003iev.1	P09038	OTTHUMG00000039506	ENST00000608478.1:c.78C>G	4.37:g.123748407C>G	ENSP00000477134:p.Phe26Leu		A4LBB8|O00527|P78443|Q16443|Q5PY50|Q7KZ11|Q7KZ72|Q9UC54|Q9UCS5|Q9UCS6	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.F159L	ENST00000608478.1	37	c.477		4	.	.	.	.	.	.	.	.	.	.	c	19.24	3.789122	0.70337	.	.	ENSG00000138685	ENST00000264498	T	0.74002	-0.8	3.36	1.57	0.23409	.	.	.	.	.	T	0.64394	0.2594	L	0.36672	1.1	0.40466	D	0.980294	B	0.22746	0.074	B	0.35607	0.206	T	0.61019	-0.7147	8	0.41790	T	0.15	.	3.5845	0.07966	0.173:0.5236:0.0:0.3033	.	159	P09038	FGF2_HUMAN	L	159	ENSP00000264498:F159L	ENSP00000264498:F159L	F	+	3	2	FGF2	123967857	1.000000	0.71417	0.995000	0.50966	0.841000	0.47740	2.236000	0.43052	0.085000	0.17107	-0.494000	0.04653	TTC	FGF2	-	superfamily_Cytokine_IL1-like,smart_IL1_HBGF		0.711	FGF2-002	KNOWN	basic|appris_principal	protein_coding	FGF2	HGNC	protein_coding	OTTHUMT00000472102.1	C	NM_002006		123748407	+1	no_errors	ENST00000264498	ensembl	human	known	70_37	missense	SNP	1.000	G
FIG4	9896	genome.wustl.edu	37	6	110037666	110037666	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:110037666G>A	ENST00000230124.3	+	3	308	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_5'Flank	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	62					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.E62K(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TACTCAACAAGAAGTAAGGGA	0.373																																																	1	Substitution - Missense(1)	cervix(1)											102.0	99.0	100.0					6																	110037666		2203	4300	6503	SO:0001583	missense	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.184G>A	6.37:g.110037666G>A	ENSP00000230124:p.Glu62Lys		Q53H49|Q5TCS6	Missense_Mutation	SNP	pfam_Syja_N,pfscan_Syja_N	p.E62K	ENST00000230124.3	37	c.184	CCDS5078.1	6	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637460	0.87760	.	.	ENSG00000112367	ENST00000230124;ENST00000454215	T;T	0.75938	0.3;-0.98	5.66	4.77	0.60923	.	0.059830	0.64402	D	0.000003	D	0.82820	0.5120	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	P	0.62560	0.904	D	0.86500	0.1803	10	0.72032	D	0.01	-26.7389	15.4072	0.74887	0.0:0.0:0.8595:0.1405	.	62	Q92562	FIG4_HUMAN	K	62;41	ENSP00000230124:E62K;ENSP00000412156:E41K	ENSP00000230124:E62K	E	+	1	0	FIG4	110144359	1.000000	0.71417	0.993000	0.49108	0.938000	0.57974	7.170000	0.77587	1.364000	0.46038	0.585000	0.79938	GAA	FIG4	-	NULL		0.373	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	G	NM_014845		110037666	+1	no_errors	ENST00000230124	ensembl	human	known	70_37	missense	SNP	1.000	A
FILIP1L	11259	genome.wustl.edu	37	3	99569565	99569565	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:99569565G>C	ENST00000354552.3	-	5	1425	c.955C>G	c.(955-957)Caa>Gaa	p.Q319E	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.Q319E|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.Q79E|FILIP1L_ENST00000383694.2_Missense_Mutation_p.Q79E	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	319						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q319E(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGGCGATTTTGACTGTCCTCA	0.478																																																	2	Substitution - Missense(2)	cervix(2)											200.0	192.0	194.0					3																	99569565		1893	4108	6001	SO:0001583	missense	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.955C>G	3.37:g.99569565G>C	ENSP00000346560:p.Gln319Glu		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.Q319E	ENST00000354552.3	37	c.955	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933032	0.73442	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.22539	2.27;1.95;2.27;1.95;1.95	5.81	5.81	0.92471	.	0.000000	0.50627	D	0.000116	T	0.40522	0.1120	L	0.55103	1.725	0.47905	D	0.999541	D;D	0.61697	0.99;0.982	D;D	0.72982	0.979;0.952	T	0.06197	-1.0840	10	0.07813	T	0.8	-14.7865	20.0782	0.97758	0.0:0.0:1.0:0.0	.	319;319	Q4L180-2;Q4L180	.;FIL1L_HUMAN	E	319;79;319;79;79;79	ENSP00000346560:Q319E;ENSP00000419642:Q79E;ENSP00000327880:Q319E;ENSP00000373192:Q79E;ENSP00000419874:Q79E	ENSP00000327880:Q319E	Q	-	1	0	FILIP1L	101052255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.746000	0.94184	0.655000	0.94253	CAA	FILIP1L	-	superfamily_Prefoldin		0.478	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	G	NM_014890		99569565	-1	no_errors	ENST00000354552	ensembl	human	known	70_37	missense	SNP	1.000	C
FIP1L1	81608	genome.wustl.edu	37	4	54319101	54319101	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:54319101C>T	ENST00000337488.6	+	16	1494	c.1300C>T	c.(1300-1302)Ctt>Ttt	p.L434F	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.L360F|FIP1L1_ENST00000358575.5_Missense_Mutation_p.L428F	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	434					mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L434F(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTTCCCCATCTTCCTGGTTC	0.408			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	1	Substitution - Missense(1)	cervix(1)											162.0	145.0	151.0					4																	54319101		2203	4300	6503	SO:0001583	missense	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1300C>T	4.37:g.54319101C>T	ENSP00000336752:p.Leu434Phe		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	pfam_Fip1	p.L434F	ENST00000337488.6	37	c.1300	CCDS3491.1	4	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461763	0.63513	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	.	.	.	5.14	3.34	0.38264	.	0.213221	0.33610	N	0.004736	T	0.64918	0.2642	L	0.36672	1.1	0.80722	D	1	D;D;P;D	0.69078	0.997;0.995;0.571;0.995	D;D;B;D	0.75484	0.986;0.969;0.183;0.979	T	0.62129	-0.6919	9	0.40728	T	0.16	-12.4897	13.0395	0.58891	0.424:0.576:0.0:0.0	.	428;428;360;434	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	F	434;428;360;91	.	ENSP00000302993:L360F	L	+	1	0	FIP1L1	54013858	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.441000	0.44864	0.611000	0.30052	-0.181000	0.13052	CTT	FIP1L1	-	NULL		0.408	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1	C	NM_030917		54319101	+1	no_errors	ENST00000337488	ensembl	human	known	70_37	missense	SNP	1.000	T
FKBP4	2288	genome.wustl.edu	37	12	2908402	2908402	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:2908402C>G	ENST00000001008.4	+	5	850	c.663C>G	c.(661-663)ctC>ctG	p.L221L	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	221	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)	p.L221L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			TCGTGTACCTCAAGCCCAGGT	0.502																																																	1	Substitution - coding silent(1)	cervix(1)											88.0	74.0	79.0					12																	2908402		2203	4300	6503	SO:0001819	synonymous_variant	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.663C>G	12.37:g.2908402C>G			D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.L221	ENST00000001008.4	37	c.663	CCDS8512.1	12																																																																																			FKBP4	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.502	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	C			2908402	+1	no_errors	ENST00000001008	ensembl	human	known	70_37	silent	SNP	0.999	G
FKBP5	2289	genome.wustl.edu	37	6	35587911	35587911	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:35587911C>G	ENST00000539068.1	-	4	593	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	FKBP5_ENST00000536438.1_Missense_Mutation_p.E131Q|FKBP5_ENST00000357266.4_Missense_Mutation_p.E131Q|FKBP5_ENST00000542713.1_Missense_Mutation_p.E131Q|FKBP5_ENST00000540787.1_Intron	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	131					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.E131Q(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						ATACTTGCCTCAAAAAAGAGA	0.448																																																	2	Substitution - Missense(2)	cervix(2)											129.0	111.0	117.0					6																	35587911		2203	4300	6503	SO:0001583	missense	2289			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.391G>C	6.37:g.35587911C>G	ENSP00000441205:p.Glu131Gln		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.E131Q	ENST00000539068.1	37	c.391	CCDS4808.1	6	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391101	0.82902	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.45	5.45	0.79879	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	M	0.93016	3.37	0.80722	D	1	P;P	0.46987	0.888;0.887	P;B	0.51079	0.658;0.437	T	0.78537	-0.2166	10	0.54805	T	0.06	-6.4889	19.6597	0.95861	0.0:1.0:0.0:0.0	.	131;131	F5H7R1;Q13451	.;FKBP5_HUMAN	Q	131;131;131;131;94;131;129	ENSP00000444810:E131Q;ENSP00000349811:E131Q;ENSP00000441205:E131Q;ENSP00000442340:E131Q	ENSP00000338160:E131Q	E	-	1	0	FKBP5	35695889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.507000	0.60434	2.708000	0.92522	0.650000	0.86243	GAG	FKBP5	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.448	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP5	HGNC	protein_coding	OTTHUMT00000040309.2	C			35587911	-1	no_errors	ENST00000337746	ensembl	human	known	70_37	missense	SNP	1.000	G
FLG2	388698	genome.wustl.edu	37	1	152329907	152329907	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:152329907C>G	ENST00000388718.5	-	3	427	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	119					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.E119Q(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)			GTATCCTCTTCATCCTCTTCT	0.463																																																	1	Substitution - Missense(1)	cervix(1)											183.0	161.0	169.0					1																	152329907		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.355G>C	1.37:g.152329907C>G	ENSP00000373370:p.Glu119Gln		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E119Q	ENST00000388718.5	37	c.355	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263722	0.39995	.	.	ENSG00000143520	ENST00000388718	T	0.00705	5.81	5.29	5.29	0.74685	.	.	.	.	.	T	0.01730	0.0055	M	0.65498	2.005	0.33093	D	0.538253	D	0.89917	1.0	D	0.69654	0.965	T	0.56956	-0.7893	9	0.41790	T	0.15	.	14.4323	0.67259	0.0:1.0:0.0:0.0	.	119	Q5D862	FILA2_HUMAN	Q	119	ENSP00000373370:E119Q	ENSP00000373370:E119Q	E	-	1	0	FLG2	150596531	0.856000	0.29760	0.987000	0.45799	0.436000	0.31835	1.444000	0.35068	2.485000	0.83878	0.460000	0.39030	GAA	FLG2	-	NULL		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		152329907	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.990	G
FLNC	2318	genome.wustl.edu	37	7	128481359	128481359	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:128481359G>C	ENST00000325888.8	+	12	2210	c.1949G>C	c.(1948-1950)cGa>cCa	p.R650P	FLNC_ENST00000346177.6_Missense_Mutation_p.R650P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	650					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.R650P(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGGACATCCGAGACTCACCC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											193.0	204.0	200.0					7																	128481359		2162	4243	6405	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1949G>C	7.37:g.128481359G>C	ENSP00000327145:p.Arg650Pro		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R650P	ENST00000325888.8	37	c.1949	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068946	0.36470	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.88896	-2.44;-2.44	5.2	5.2	0.72013	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.077747	0.50627	D	0.000108	T	0.67268	0.2875	N	0.00405	-1.535	0.43583	D	0.995924	P;P	0.42483	0.781;0.719	P;B	0.45071	0.468;0.403	T	0.70070	-0.4973	10	0.14252	T	0.57	.	6.7707	0.23593	0.2183:0.0:0.7817:0.0	.	650;650	Q14315-2;Q14315	.;FLNC_HUMAN	P	650	ENSP00000327145:R650P;ENSP00000344002:R650P	ENSP00000327145:R650P	R	+	2	0	FLNC	128268595	0.926000	0.31397	0.978000	0.43139	0.956000	0.61745	2.596000	0.46205	2.430000	0.82344	0.491000	0.48974	CGA	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	G			128481359	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	0.997	C
FMO5	2330	genome.wustl.edu	37	1	146687380	146687380	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:146687380C>G	ENST00000254090.4	-	3	656	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	FMO5_ENST00000441068.2_Missense_Mutation_p.E90Q|FMO5_ENST00000369272.3_Missense_Mutation_p.E90Q|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000465173.1_5'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	90						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.E90Q(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTGAAATACTCCAGGACCTGG	0.373																																																	2	Substitution - Missense(2)	cervix(2)											127.0	123.0	125.0					1																	146687380		2203	4300	6503	SO:0001583	missense	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.268G>C	1.37:g.146687380C>G	ENSP00000254090:p.Glu90Gln		B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.E90Q	ENST00000254090.4	37	c.268	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306426	0.60305	.	.	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272;ENST00000533174;ENST00000533848	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	6.14	6.14	0.99180	.	0.204898	0.56097	D	0.000029	T	0.39306	0.1073	N	0.20881	0.62	0.45183	D	0.998199	B;B;B;B	0.29627	0.028;0.035;0.252;0.141	B;B;B;B	0.37833	0.063;0.175;0.257;0.259	T	0.27502	-1.0072	10	0.32370	T	0.25	-32.9416	18.3535	0.90348	0.0:1.0:0.0:0.0	.	90;90;90;90	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	Q	90	ENSP00000416011:E90Q;ENSP00000254090:E90Q;ENSP00000358277:E90Q;ENSP00000436429:E90Q;ENSP00000432569:E90Q	ENSP00000254090:E90Q	E	-	1	0	FMO5	145154004	0.926000	0.31397	0.893000	0.35052	0.951000	0.60555	1.736000	0.38187	2.937000	0.99478	0.650000	0.86243	GAG	FMO5	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1		0.373	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	C	NM_001461		146687380	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	missense	SNP	1.000	G
FMR1NB	158521	genome.wustl.edu	37	X	147090178	147090178	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:147090178C>G	ENST00000370467.3	+	4	653	c.579C>G	c.(577-579)atC>atG	p.I193M	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	193						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.I193M(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGCGATCAGCCTTATCC	0.398																																																	1	Substitution - Missense(1)	cervix(1)											239.0	176.0	197.0					X																	147090178		2203	4300	6503	SO:0001583	missense	158521				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.579C>G	X.37:g.147090178C>G	ENSP00000359498:p.Ile193Met		D3DWT3	Missense_Mutation	SNP	superfamily_P_trefoil	p.I193M	ENST00000370467.3	37	c.579	CCDS14683.1	X	.	.	.	.	.	.	.	.	.	.	C	4.963	0.178815	0.09443	.	.	ENSG00000176988	ENST00000370467	T	0.24350	1.86	5.64	1.59	0.23543	.	0.712928	0.12112	N	0.498408	T	0.12263	0.0298	N	0.14661	0.345	0.09310	N	1	P	0.37573	0.6	B	0.36808	0.233	T	0.15694	-1.0428	10	0.35671	T	0.21	-6.0528	2.7278	0.05219	0.3292:0.4212:0.1573:0.0922	.	193	Q8N0W7	FMR1N_HUMAN	M	193	ENSP00000359498:I193M	ENSP00000359498:I193M	I	+	3	3	FMR1NB	146897870	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.068000	0.14531	0.166000	0.19597	0.544000	0.68410	ATC	FMR1NB	-	NULL		0.398	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1NB	HGNC	protein_coding	OTTHUMT00000058667.1	C	NM_152578		147090178	+1	no_errors	ENST00000370467	ensembl	human	known	70_37	missense	SNP	0.000	G
FNTA	2339	genome.wustl.edu	37	8	42927367	42927367	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:42927367C>G	ENST00000302279.3	+	5	744	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	RNU1-124P_ENST00000363861.1_RNA|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.Q141E|FNTA_ENST00000529687.1_Missense_Mutation_p.Q33E|FNTA_ENST00000342116.4_Missense_Mutation_p.Q117E	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	184					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.Q184E(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGATCCATCTCAGGAGCTTGA	0.378																																																	1	Substitution - Missense(1)	cervix(1)											142.0	140.0	140.0					8																	42927367		2203	4300	6503	SO:0001583	missense	2339			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.550C>G	8.37:g.42927367C>G	ENSP00000303423:p.Gln184Glu		A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.Q184E	ENST00000302279.3	37	c.550	CCDS6140.1	8	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110229	0.20714	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000342116;ENST00000531266;ENST00000525699;ENST00000533336	T	0.35605	1.3	4.61	4.61	0.57282	Protein prenyltransferase (1);	0.227924	0.44483	D	0.000448	T	0.20536	0.0494	N	0.16307	0.4	0.40167	D	0.977131	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.08764	-1.0706	10	0.13470	T	0.59	-13.1616	10.9846	0.47514	0.0:0.8101:0.1899:0.0	.	117;93;184	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	E	141;184;117;166;33;122	ENSP00000436998:Q33E	ENSP00000303423:Q184E	Q	+	1	0	FNTA;RP11-598P20.5	43046524	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.363000	0.52321	2.122000	0.65172	0.306000	0.20318	CAG	FNTA	-	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a		0.378	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNTA	HGNC	protein_coding	OTTHUMT00000383178.1	C	NM_002027		42927367	+1	no_errors	ENST00000302279	ensembl	human	known	70_37	missense	SNP	1.000	G
FOLR1	2348	genome.wustl.edu	37	11	71903284	71903284	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:71903284C>T	ENST00000393679.1	+	2	503	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	FOLR1_ENST00000393676.3_Nonsense_Mutation_p.Q23*|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Nonsense_Mutation_p.Q23*|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.Q23*			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	23					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)	p.Q23*(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	AGGGGAGGCTCAGACAAGGAT	0.557																																																	1	Substitution - Nonsense(1)	cervix(1)											131.0	115.0	121.0					11																	71903284		2200	4293	6493	SO:0001587	stop_gained	2348			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.67C>T	11.37:g.71903284C>T	ENSP00000377284:p.Gln23*		Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Nonsense_Mutation	SNP	pfam_Folate_rcpt-like	p.Q23*	ENST00000393679.1	37	c.67	CCDS8211.1	11	.	.	.	.	.	.	.	.	.	.	-	37	5.985723	0.97173	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	.	.	.	4.36	1.38	0.22167	.	0.981664	0.08254	N	0.974209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	2.9615	0.05894	0.1852:0.5373:0.1792:0.0983	.	.	.	.	X	23	.	ENSP00000308137:Q23X	Q	+	1	0	FOLR1	71580932	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.417000	0.21214	0.322000	0.23283	0.650000	0.86243	CAG	FOLR1	-	pfam_Folate_rcpt-like		0.557	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOLR1	HGNC	protein_coding	OTTHUMT00000396773.1	C	NM_016725		71903284	+1	no_errors	ENST00000312293	ensembl	human	known	70_37	nonsense	SNP	0.000	T
FOLR1	2348	genome.wustl.edu	37	11	71903325	71903325	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:71903325C>G	ENST00000393679.1	+	2	544	c.108C>G	c.(106-108)gtC>gtG	p.V36V	FOLR1_ENST00000393676.3_Silent_p.V36V|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Silent_p.V36V|FOLR1_ENST00000312293.4_Silent_p.V36V			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	36					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)	p.V36V(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	TTCTCAATGTCTGCATGAACG	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											127.0	112.0	117.0					11																	71903325		2200	4293	6493	SO:0001819	synonymous_variant	2348			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.108C>G	11.37:g.71903325C>G			Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Silent	SNP	pfam_Folate_rcpt-like	p.V36	ENST00000393679.1	37	c.108	CCDS8211.1	11																																																																																			FOLR1	-	pfam_Folate_rcpt-like		0.587	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOLR1	HGNC	protein_coding	OTTHUMT00000396773.1	C	NM_016725		71903325	+1	no_errors	ENST00000312293	ensembl	human	known	70_37	silent	SNP	0.990	G
FOXD3	27022	genome.wustl.edu	37	1	63789491	63789491	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:63789491G>C	ENST00000371116.2	+	1	762	c.762G>C	c.(760-762)caG>caC	p.Q254H	RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	254					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q254H(1)		breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						TCATGATGCAGAGCTTCGGCG	0.721																																					Pancreas(68;276 1750 11966 31252)												1	Substitution - Missense(1)	cervix(1)											13.0	16.0	15.0					1																	63789491		2169	4255	6424	SO:0001583	missense	27022			AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.762G>C	1.37:g.63789491G>C	ENSP00000360157:p.Gln254His		Q9BYM2|Q9UDD1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q254H	ENST00000371116.2	37	c.762	CCDS624.1	1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655267	0.29425	.	.	ENSG00000187140	ENST00000371116	D	0.94280	-3.39	2.51	1.51	0.23008	.	0.765687	0.10030	U	0.724844	T	0.78188	0.4244	L	0.27053	0.805	0.41450	D	0.98797	B	0.02656	0.0	B	0.04013	0.001	T	0.69363	-0.5165	10	0.33141	T	0.24	.	5.808	0.18450	0.1188:0.3843:0.4969:0.0	.	254	Q9UJU5	FOXD3_HUMAN	H	254	ENSP00000360157:Q254H	ENSP00000360157:Q254H	Q	+	3	2	FOXD3	63562079	0.163000	0.22920	1.000000	0.80357	0.995000	0.86356	0.330000	0.19715	0.533000	0.28675	0.460000	0.39030	CAG	FOXD3	-	NULL		0.721	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD3	HGNC	protein_coding	OTTHUMT00000025331.1	G			63789491	+1	no_errors	ENST00000371116	ensembl	human	known	70_37	missense	SNP	0.997	C
FOXK1	221937	genome.wustl.edu	37	7	4780530	4780530	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:4780530G>A	ENST00000328914.4	+	2	622	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	FOXK1_ENST00000446823.1_Missense_Mutation_p.E45K	NM_001037165.1	NP_001032242.1			forkhead box K1									p.E208K(1)|p.E34K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CTATCACAAAGAAGAGGCCCC	0.627																																																	2	Substitution - Missense(2)	cervix(2)											144.0	150.0	148.0					7																	4780530		2203	4300	6503	SO:0001583	missense	221937			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.622G>A	7.37:g.4780530G>A	ENSP00000328720:p.Glu208Lys			Missense_Mutation	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.E208K	ENST00000328914.4	37	c.622	CCDS34591.1	7	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679062	0.29783	.	.	ENSG00000164916	ENST00000446823;ENST00000328914;ENST00000545598	D;D	0.95724	-3.41;-3.79	4.99	4.99	0.66335	.	0.255793	0.39407	N	0.001363	D	0.86087	0.5849	N	0.02011	-0.69	0.35408	D	0.792207	B;P;B	0.42248	0.057;0.774;0.071	B;B;B	0.42495	0.027;0.389;0.03	D	0.87718	0.2571	10	0.08599	T	0.76	.	13.0835	0.59127	0.0:0.1611:0.8389:0.0	.	208;91;45	P85037;F5H8G8;P85037-2	FOXK1_HUMAN;.;.	K	45;208;91	ENSP00000394442:E45K;ENSP00000328720:E208K	ENSP00000328720:E208K	E	+	1	0	FOXK1	4747056	1.000000	0.71417	0.872000	0.34217	0.316000	0.28119	7.716000	0.84723	2.307000	0.77673	0.563000	0.77884	GAA	FOXK1	-	NULL		0.627	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2	G			4780530	+1	no_errors	ENST00000328914	ensembl	human	known	70_37	missense	SNP	1.000	A
FOXRED2	80020	genome.wustl.edu	37	22	36889851	36889851	+	Splice_Site	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:36889851C>T	ENST00000397224.4	-	8	1718		c.e8-1		FOXRED2_ENST00000216187.6_Splice_Site|FOXRED2_ENST00000366463.3_Splice_Site|FOXRED2_ENST00000397223.4_Splice_Site	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2						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)	p.?(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACCTCCTGTTCTGTGGGGAGG	0.632																																																	1	Unknown(1)	cervix(1)											40.0	36.0	37.0					22																	36889851		2203	4300	6503	SO:0001630	splice_region_variant	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.1625-1G>A	22.37:g.36889851C>T			B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Splice_Site	SNP	-	e7-1	ENST00000397224.4	37	c.1625-1	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573841	0.86542	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1715	0.93580	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOXRED2	35219797	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.209000	0.77916	2.541000	0.85698	0.650000	0.86243	.	FOXRED2	-	-		0.632	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	C	NM_024955	Intron	36889851	-1	no_errors	ENST00000216187	ensembl	human	known	70_37	splice_site	SNP	1.000	T
FRMPD3	84443	genome.wustl.edu	37	X	106844953	106844953	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:106844953G>C	ENST00000276185.4	+	16	3783	c.3783G>C	c.(3781-3783)caG>caC	p.Q1261H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1261						cytoskeleton (GO:0005856)		p.Q1310H(1)|p.Q1261H(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CAACCCGCCAGAAGAAGGAGA	0.557																																																	2	Substitution - Missense(2)	cervix(2)											86.0	83.0	84.0					X																	106844953		876	1991	2867	SO:0001583	missense	84443			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.3783G>C	X.37:g.106844953G>C	ENSP00000276185:p.Gln1261His		Q96JK8	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.Q1261H	ENST00000276185.4	37	c.3783		X	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479013	0.26511	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.14766	2.48;2.48	3.59	2.72	0.32119	.	0.430351	0.19669	N	0.108812	T	0.10723	0.0262	N	0.19112	0.55	0.24126	N	0.995786	.	.	.	.	.	.	T	0.20042	-1.0287	8	0.44086	T	0.13	.	9.4731	0.38856	0.1091:0.0:0.8909:0.0	.	.	.	.	H	1261;1209	ENSP00000276185:Q1261H;ENSP00000398668:Q1209H	ENSP00000276185:Q1261H	Q	+	3	2	FRMPD3	106731609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.421000	0.44688	0.576000	0.29452	0.431000	0.28591	CAG	FRMPD3	-	NULL		0.557	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		G	XM_042978		106844953	+1	no_errors	ENST00000276185	ensembl	human	known	70_37	missense	SNP	1.000	C
FSTL5	56884	genome.wustl.edu	37	4	162680668	162680668	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:162680668C>T	ENST00000306100.5	-	6	1058	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	FSTL5_ENST00000379164.4_Missense_Mutation_p.E207K|FSTL5_ENST00000536695.1_Missense_Mutation_p.E207K|FSTL5_ENST00000427802.2_Missense_Mutation_p.E207K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	208	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E208K(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGCCAAGTTCTTCCTGTTTT	0.274																																																	1	Substitution - Missense(1)	cervix(1)											83.0	90.0	88.0					4																	162680668		2203	4300	6503	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.622G>A	4.37:g.162680668C>T	ENSP00000305334:p.Glu208Lys		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.E208K	ENST00000306100.5	37	c.622	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534244	0.45073	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.51	4.67	0.58626	EF-hand-like domain (1);	0.216967	0.47093	N	0.000248	T	0.11965	0.0291	N	0.19112	0.55	0.36709	D	0.880566	P;B;B	0.47106	0.89;0.077;0.012	B;B;B	0.38378	0.272;0.012;0.008	T	0.14615	-1.0466	10	0.11182	T	0.66	.	13.373	0.60723	0.0:0.9241:0.0:0.0758	.	207;207;208	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	K	208;207;207;207	ENSP00000305334:E208K;ENSP00000368462:E207K;ENSP00000389270:E207K;ENSP00000440409:E207K	ENSP00000305334:E208K	E	-	1	0	FSTL5	162900118	1.000000	0.71417	0.172000	0.22920	0.477000	0.33069	5.677000	0.68142	1.335000	0.45486	0.579000	0.79373	GAA	FSTL5	-	pfscan_EF_HAND_2		0.274	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	C	NM_020116		162680668	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	missense	SNP	0.984	T
FTL	2512	genome.wustl.edu	37	19	49469965	49469965	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49469965C>G	ENST00000331825.6	+	4	708	c.501C>G	c.(499-501)ttC>ttG	p.F167L	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	167					cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)	p.F167L(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	AGTATCTCTTCGAAAGGCTCA	0.562																																																	1	Substitution - Missense(1)	cervix(1)											66.0	69.0	68.0					19																	49469965		2203	4300	6503	SO:0001583	missense	2512			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.501C>G	19.37:g.49469965C>G	ENSP00000366525:p.Phe167Leu		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron	p.F167L	ENST00000331825.6	37	c.501	CCDS33070.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.46|15.46	2.840020|2.840020	0.51057|0.51057	.|.	.|.	ENSG00000087086|ENSG00000087086	ENST00000331825|ENST00000397259	T|.	0.75821|.	-0.97|.	4.46|4.46	-7.12|-7.12	0.01537|0.01537	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);|.	.|.	.|.	.|.	.|.	T|T	0.63674|0.63674	0.2531|0.2531	M|M	0.83118|0.83118	2.625|2.625	0.28247|0.28247	N|N	0.925413|0.925413	B|.	0.34349|.	0.45|.	B|.	0.25506|.	0.061|.	T|T	0.69672|0.69672	-0.5082|-0.5082	9|6	0.87932|0.87932	D|D	0|0	.|.	13.8813|13.8813	0.63684|0.63684	0.0:0.3274:0.0:0.6726|0.0:0.3274:0.0:0.6726	.|.	167|.	P02792|.	FRIL_HUMAN|.	L|W	167|167	ENSP00000366525:F167L|.	ENSP00000366525:F167L|ENSP00000446314:S167W	F|S	+|+	3|2	2|0	FTL|FTL	54161777|54161777	0.948000|0.948000	0.32251|0.32251	0.765000|0.765000	0.31456|0.31456	0.975000|0.975000	0.68041|0.68041	-0.011000|-0.011000	0.12721|0.12721	-1.324000|-1.324000	0.02272|0.02272	-1.012000|-1.012000	0.02466|0.02466	TTC|TCG	FTL	-	superfamily_Ferritin/RNR-like		0.562	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTL	HGNC	protein_coding	OTTHUMT00000466233.1	C	NM_000146		49469965	+1	no_errors	ENST00000331825	ensembl	human	known	70_37	missense	SNP	0.657	G
GABARAPL2	11345	genome.wustl.edu	37	16	75611123	75611123	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:75611123C>G	ENST00000037243.2	+	4	399				GABARAPL2_ENST00000563744.1_Intron|GABARAPL2_ENST00000568455.1_Intron|GABARAPL2_ENST00000565985.1_3'UTR|RP11-77K12.8_ENST00000564489.1_RNA	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2						autophagy (GO:0006914)|intra-Golgi vesicle-mediated transport (GO:0006891)|negative regulation of proteasomal protein catabolic process (GO:1901799)|positive regulation of ATPase activity (GO:0032781)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular (GO:0005622)	ATPase binding (GO:0051117)|beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)|microtubule binding (GO:0008017)|SNARE binding (GO:0000149)			lung(1)|ovary(1)	2						CATCCTTTTTCTCCTGAAACC	0.398																																																	0													61.0	53.0	55.0					16																	75611123		692	1591	2283	SO:0001627	intron_variant	11345			AF087848	CCDS10921.1	16q22.1	2014-02-12			ENSG00000034713	ENSG00000034713			13291	protein-coding gene	gene with protein product		607452				11414770	Standard	NM_007285		Approved	GEF2, ATG8, GATE16, GATE-16, ATG8C	uc002fen.3	P60520	OTTHUMG00000137613	ENST00000037243.2:c.264-54C>G	16.37:g.75611123C>G			O08765|Q6FG91|Q9DCP8|Q9UQF7	RNA	SNP	-	NULL	ENST00000037243.2	37	NULL	CCDS10921.1	16																																																																																			GABARAPL2	-	-		0.398	GABARAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABARAPL2	HGNC	protein_coding	OTTHUMT00000269029.1	C	NM_007285		75611123	+1	no_errors	ENST00000565985	ensembl	human	known	70_37	rna	SNP	0.037	G
GABPB1	2553	genome.wustl.edu	37	15	50596276	50596276	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:50596276C>G	ENST00000220429.8	-	3	331	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	GABPB1_ENST00000560825.1_Missense_Mutation_p.E55Q|GABPB1_ENST00000396464.3_Missense_Mutation_p.E55Q|GABPB1_ENST00000543881.1_5'UTR|GABPB1_ENST00000359031.4_Missense_Mutation_p.E55Q|GABPB1_ENST00000380877.3_Missense_Mutation_p.E55Q|GABPB1_ENST00000429662.2_Missense_Mutation_p.E55Q			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	55					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E55Q(1)		cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						AGCAGTACCTCTGTGGTGGAA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											158.0	129.0	139.0					15																	50596276		2196	4295	6491	SO:0001583	missense	2553			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.163G>C	15.37:g.50596276C>G	ENSP00000220429:p.Glu55Gln		A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	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.E55Q	ENST00000220429.8	37	c.163	CCDS32239.1	15	.	.	.	.	.	.	.	.	.	.	C	30	5.056163	0.93793	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.45	5.45	0.79879	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	L	0.41492	1.28	0.80722	D	1	D;P;D;D;D	0.62365	0.991;0.903;0.971;0.976;0.971	D;P;B;D;B	0.72982	0.979;0.572;0.396;0.954;0.396	T	0.61078	-0.7135	10	0.51188	T	0.08	-15.49	19.6374	0.95740	0.0:1.0:0.0:0.0	.	55;55;55;55;55	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	Q	55	ENSP00000220429:E55Q;ENSP00000370259:E55Q;ENSP00000379728:E55Q;ENSP00000395771:E55Q;ENSP00000351923:E55Q	ENSP00000220429:E55Q	E	-	1	0	GABPB1	48383568	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.818000	0.86416	2.711000	0.92665	0.563000	0.77884	GAG	GABPB1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.453	GABPB1-005	KNOWN	basic|CCDS	protein_coding	GABPB1	HGNC	protein_coding	OTTHUMT00000418294.1	C			50596276	-1	no_errors	ENST00000220429	ensembl	human	known	70_37	missense	SNP	1.000	G
GABRR1	2569	genome.wustl.edu	37	6	89895170	89895170	+	Splice_Site	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:89895170C>T	ENST00000454853.2	-	7	766		c.e7-1		GABRR1_ENST00000435811.1_Splice_Site|GABRR1_ENST00000369451.3_Splice_Site	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GTATAGGCATCTGAAAAGACA	0.498																																																	1	Unknown(1)	cervix(1)											141.0	128.0	132.0					6																	89895170		2203	4300	6503	SO:0001630	splice_region_variant	2569				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.656-1G>A	6.37:g.89895170C>T			A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Splice_Site	SNP	-	e7-1	ENST00000454853.2	37	c.656-1	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023515	0.54683	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4576	0.94900	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRR1	89951889	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	7.445000	0.80570	2.680000	0.91292	0.561000	0.74099	.	GABRR1	-	-		0.498	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	HGNC	protein_coding	OTTHUMT00000041479.2	C		Intron	89895170	-1	no_errors	ENST00000454853	ensembl	human	known	70_37	splice_site	SNP	1.000	T
GALNT14	79623	genome.wustl.edu	37	2	31152319	31152319	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:31152319C>G	ENST00000349752.5	-	11	1732	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	GALNT14_ENST00000356174.3_Missense_Mutation_p.E332Q|GALNT14_ENST00000406653.1_Missense_Mutation_p.E345Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.E330Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.E370Q|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	365					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E365Q(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCTTGTATTCATCCATCCAC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											158.0	136.0	143.0					2																	31152319		2203	4300	6503	SO:0001583	missense	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1093G>C	2.37:g.31152319C>G	ENSP00000288988:p.Glu365Gln		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E365Q	ENST00000349752.5	37	c.1093	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	33	5.262111	0.95368	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.21	5.21	0.72293	.	0.050170	0.85682	D	0.000000	T	0.81341	0.4802	M	0.87682	2.9	0.80722	D	1	D;P;D;P;P	0.53312	0.959;0.928;0.957;0.708;0.875	P;P;P;B;B	0.54238	0.746;0.603;0.494;0.326;0.28	D	0.84812	0.0791	10	0.66056	D	0.02	.	19.1205	0.93362	0.0:1.0:0.0:0.0	.	330;332;370;365;345	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	Q	365;370;345;332;330;332	ENSP00000288988:E365Q;ENSP00000314500:E370Q;ENSP00000385435:E345Q;ENSP00000348497:E332Q;ENSP00000415514:E330Q;ENSP00000406399:E332Q	ENSP00000314500:E370Q	E	-	1	0	GALNT14	31005823	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.758000	0.85224	2.584000	0.87258	0.561000	0.74099	GAA	GALNT14	-	NULL		0.552	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	C	NM_024572		31152319	-1	no_errors	ENST00000349752	ensembl	human	known	70_37	missense	SNP	1.000	G
GALNTL5	168391	genome.wustl.edu	37	7	151711802	151711802	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:151711802G>A	ENST00000392800.2	+	8	1354	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G367E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	367					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.G367E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AAACAAACTGGAAAACCTTCT	0.418																																																	1	Substitution - Missense(1)	cervix(1)											169.0	145.0	153.0					7																	151711802		2203	4300	6503	SO:0001583	missense	168391			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1100G>A	7.37:g.151711802G>A	ENSP00000376548:p.Gly367Glu		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.G367E	ENST00000392800.2	37	c.1100	CCDS5929.1	7	.	.	.	.	.	.	.	.	.	.	G	8.136	0.784059	0.16189	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.59502	0.26;0.26	3.64	-7.27	0.01461	.	11.853400	0.00166	N	0.000001	T	0.39009	0.1062	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31752	-0.9932	10	0.56958	D	0.05	.	6.9881	0.24739	0.2674:0.5471:0.1855:0.0	.	118;367	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	E	367	ENSP00000392582:G367E;ENSP00000376548:G367E	ENSP00000376548:G367E	G	+	2	0	GALNTL5	151342735	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.813000	0.04491	-1.876000	0.01131	-0.339000	0.08088	GGA	GALNTL5	-	NULL		0.418	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL5	HGNC	protein_coding	OTTHUMT00000348395.1	G	NM_145292		151711802	+1	no_errors	ENST00000392800	ensembl	human	known	70_37	missense	SNP	0.000	A
GALR2	8811	genome.wustl.edu	37	17	74072990	74072990	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:74072990C>G	ENST00000329003.3	+	2	732	c.642C>G	c.(640-642)ctC>ctG	p.L214L	ZACN_ENST00000392503.2_5'Flank|ZACN_ENST00000334586.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	214					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)	p.L214L(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGCGCTACCTCTGGCGCGCCG	0.692																																																	1	Substitution - coding silent(1)	cervix(1)											21.0	16.0	18.0					17																	74072990		2175	4242	6417	SO:0001819	synonymous_variant	8811			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.642C>G	17.37:g.74072990C>G			A5JUU4|Q32MN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt	p.L214	ENST00000329003.3	37	c.642	CCDS11739.1	17																																																																																			GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM		0.692	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	C			74072990	+1	no_errors	ENST00000329003	ensembl	human	known	70_37	silent	SNP	1.000	G
GAPDH	2597	genome.wustl.edu	37	12	6646823	6646823	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:6646823G>T	ENST00000229239.5	+	8	1265	c.599G>T	c.(598-600)cGc>cTc	p.R200L	RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Missense_Mutation_p.R200L|GAPDH_ENST00000396856.1_Missense_Mutation_p.R125L|GAPDH_ENST00000396858.1_Missense_Mutation_p.R158L|GAPDH_ENST00000396859.1_Missense_Mutation_p.R200L	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	200					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)	p.R200L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CGTGATGGCCGCGGGGCTCTC	0.622											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											26.0	27.0	27.0					12																	6646823		2202	4298	6500	SO:0001583	missense	2597			AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.599G>T	12.37:g.6646823G>T	ENSP00000229239:p.Arg200Leu	635	E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.R200L	ENST00000229239.5	37	c.599	CCDS8549.1	12	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019439	0.75275	.	.	ENSG00000111640	ENST00000229239;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.81	4.81	0.61882	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.058843	0.64402	D	0.000003	T	0.75376	0.3841	H	0.99347	4.525	0.50039	D	0.999843	B;B;B;B;B	0.31581	0.329;0.329;0.329;0.044;0.044	B;B;B;B;B	0.35899	0.18;0.213;0.18;0.112;0.087	D	0.83615	0.0136	10	0.87932	D	0	.	17.8972	0.88892	0.0:0.0:1.0:0.0	.	158;175;200;125;200	E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.;.;.;.;G3P_HUMAN	L	200;125;200;200;158	ENSP00000229239:R200L;ENSP00000380065:R125L;ENSP00000380070:R200L;ENSP00000380068:R200L;ENSP00000380067:R158L	ENSP00000229239:R200L	R	+	2	0	GAPDH	6517084	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	9.691000	0.98679	2.226000	0.72624	0.511000	0.50034	CGC	GAPDH	-	pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1		0.622	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDH	HGNC	protein_coding	OTTHUMT00000268059.1	G	NM_002046		6646823	+1	no_errors	ENST00000229239	ensembl	human	known	70_37	missense	SNP	1.000	T
GATA1	2623	genome.wustl.edu	37	X	48650370	48650370	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:48650370G>A	ENST00000376670.3	+	3	451	c.340G>A	c.(340-342)Gag>Aag	p.E114K	GATA1_ENST00000376665.3_Missense_Mutation_p.E114K	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	114					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)|p.V77_A120>A(1)|p.E114K(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TCCCACCCGCGAGGACTCTCC	0.622			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	4	Unknown(2)|Substitution - Missense(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(3)|cervix(1)											52.0	47.0	49.0					X																	48650370		2203	4300	6503	SO:0001583	missense	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.340G>A	X.37:g.48650370G>A	ENSP00000365858:p.Glu114Lys		Q96GB8	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.E114K	ENST00000376670.3	37	c.340	CCDS14305.1	X	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254560	0.22965	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.97480	-4.4;-4.21	4.6	4.6	0.57074	.	1.386620	0.04651	N	0.407052	D	0.92721	0.7686	L	0.40543	1.245	0.33143	D	0.544643	P	0.48998	0.918	B	0.33454	0.164	D	0.86165	0.1596	10	0.06757	T	0.87	-11.5864	9.4537	0.38743	0.0:0.0:0.7884:0.2115	.	114	P15976	GATA1_HUMAN	K	114	ENSP00000365858:E114K;ENSP00000365853:E114K	ENSP00000365853:E114K	E	+	1	0	GATA1	48535314	0.998000	0.40836	0.758000	0.31321	0.733000	0.41908	2.990000	0.49401	1.873000	0.54277	0.492000	0.49549	GAG	GATA1	-	pirsf_TF_GATA-1/2/3		0.622	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	G	NM_002049		48650370	+1	no_errors	ENST00000376670	ensembl	human	known	70_37	missense	SNP	0.962	A
GATAD2B	57459	genome.wustl.edu	37	1	153784602	153784602	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:153784602C>G	ENST00000368655.4	-	9	1669	c.1426G>C	c.(1426-1428)Gaa>Caa	p.E476Q		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	476	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AATCGCTGTTCAATTTCCTGT	0.458																																																	0													104.0	108.0	106.0					1																	153784602		2203	4300	6503	SO:0001583	missense	57459			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1426G>C	1.37:g.153784602C>G	ENSP00000357644:p.Glu476Gln		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.E476Q	ENST00000368655.4	37	c.1426	CCDS1054.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.103080	0.94245	.	.	ENSG00000143614	ENST00000368655	T	0.55413	0.52	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.64170	1.965	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.67496	-0.5656	10	0.87932	D	0	-1.6351	17.652	0.88167	0.0:1.0:0.0:0.0	.	476	Q8WXI9	P66B_HUMAN	Q	476	ENSP00000357644:E476Q	ENSP00000357644:E476Q	E	-	1	0	GATAD2B	152051226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.370000	0.79589	2.712000	0.92718	0.650000	0.86243	GAA	GATAD2B	-	NULL		0.458	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATAD2B	HGNC	protein_coding	OTTHUMT00000090305.1	C	NM_020699		153784602	-1	no_errors	ENST00000368655	ensembl	human	known	70_37	missense	SNP	1.000	G
GDF5	8200	genome.wustl.edu	37	20	34022041	34022041	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:34022041C>T	ENST00000374372.1	-	4	1675	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q	GDF5_ENST00000374369.3_Missense_Mutation_p.R391Q|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R29C			P43026	GDF5_HUMAN	growth differentiation factor 5	391					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)	p.R29C(2)|p.R391Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTTGCTGGGTCGCTTGCCCTG	0.597																																																	3	Substitution - Missense(3)	cervix(3)											92.0	91.0	91.0					20																	34022041		2203	4300	6503	SO:0001583	missense	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1172G>A	20.37:g.34022041C>T	ENSP00000363492:p.Arg391Gln		E1P5Q2|Q96SB1	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.R391Q	ENST00000374372.1	37	c.1172	CCDS13254.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.96|16.96	3.267256|3.267256	0.59540|0.59540	.|.	.|.	ENSG00000204183|ENSG00000125965	ENST00000374375|ENST00000374369;ENST00000374372	.|D;D	.|0.81499	.|-1.5;-1.5	4.4|4.4	4.4|4.4	0.53042|0.53042	.|Transforming growth factor-beta, C-terminal (1);	0.132843|0.132843	0.48767|0.48767	D|D	0.000180|0.000180	T|T	0.80654|0.80654	0.4664|0.4664	L|L	0.29908|0.29908	0.895|0.895	0.41091|0.41091	D|D	0.985595|0.985595	.|D;D	.|0.69078	.|0.997;0.997	.|P;P	.|0.56563	.|0.801;0.753	T|T	0.79754|0.79754	-0.1670|-0.1670	7|10	0.87932|0.30854	D|T	0|0.27	.|.	17.1668|17.1668	0.86818|0.86818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|391;391	.|F1T0J1;P43026	.|.;GDF5_HUMAN	C|Q	29|391	.|ENSP00000363489:R391Q;ENSP00000363492:R391Q	ENSP00000363495:R29C|ENSP00000363489:R391Q	R|R	+|-	1|2	0|0	GDF5OS|GDF5	33485455|33485455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	5.090000|5.090000	0.64498|0.64498	2.266000|2.266000	0.75297|0.75297	0.462000|0.462000	0.41574|0.41574	CGC|CGA	GDF5	-	NULL		0.597	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	C			34022041	-1	no_errors	ENST00000374369	ensembl	human	known	70_37	missense	SNP	1.000	T
GDF9	2661	genome.wustl.edu	37	5	132197395	132197395	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:132197395C>T	ENST00000378673.2	-	3	2117	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	GDF9_ENST00000296875.2_Silent_p.P417P|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	417					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)	p.P417P(1)		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)			GTACACATGACGGTCTTGGCA	0.483																																																	1	Substitution - coding silent(1)	cervix(1)											139.0	113.0	122.0					5																	132197395		2203	4300	6503	SO:0001819	synonymous_variant	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.1251G>A	5.37:g.132197395C>T			Q4VAW5	Silent	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.P417	ENST00000378673.2	37	c.1251	CCDS4162.1	5																																																																																			GDF9	-	pfam_TGF-b_C,smart_TGF-b_C		0.483	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	C	NM_005260		132197395	-1	no_errors	ENST00000296875	ensembl	human	known	70_37	silent	SNP	0.161	T
GDPD2	54857	genome.wustl.edu	37	X	69652906	69652906	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:69652906G>A	ENST00000374382.3	+	16	1841	c.1590G>A	c.(1588-1590)ctG>ctA	p.L530L	GDPD2_ENST00000536730.1_Silent_p.L451L|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Silent_p.L451L|GDPD2_ENST00000453994.2_Silent_p.L581L	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	530					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.L581L(1)|p.L530L(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CAGTGCTGCTGACAAGGATCA	0.537											OREG0019852	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	cervix(2)											79.0	59.0	66.0					X																	69652906		2203	4300	6503	SO:0001819	synonymous_variant	54857			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1590G>A	X.37:g.69652906G>A		1116	B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.L581	ENST00000374382.3	37	c.1743	CCDS14402.1	X																																																																																			GDPD2	-	NULL		0.537	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	HGNC	protein_coding	OTTHUMT00000057070.1	G	NM_017711		69652906	+1	no_errors	ENST00000453994	ensembl	human	known	70_37	silent	SNP	0.999	A
GEMIN4	50628	genome.wustl.edu	37	17	648334	648334	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:648334G>C	ENST00000319004.5	-	2	3067	c.2949C>G	c.(2947-2949)ttC>ttG	p.F983L	GEMIN4_ENST00000576778.1_Missense_Mutation_p.F972L	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	983					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.F983L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAGCATGGCAGAACACCTGGG	0.562																																																	2	Substitution - Missense(2)	cervix(2)											37.0	39.0	38.0					17																	648334		2012	4181	6193	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2949C>G	17.37:g.648334G>C	ENSP00000321706:p.Phe983Leu		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.F983L	ENST00000319004.5	37	c.2949	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995507	0.74703	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11542	-1.0583	10	0.87932	D	0	-23.8376	14.3664	0.66807	0.0726:0.0:0.9274:0.0	.	983	P57678	GEMI4_HUMAN	L	983	ENSP00000321706:F983L	ENSP00000321706:F983L	F	-	3	2	GEMIN4	595084	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.476000	0.73587	2.770000	0.95276	0.655000	0.94253	TTC	GEMIN4	-	NULL		0.562	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	G	NM_015721		648334	-1	no_errors	ENST00000319004	ensembl	human	known	70_37	missense	SNP	1.000	C
GHDC	84514	genome.wustl.edu	37	17	40342259	40342259	+	Missense_Mutation	SNP	C	C	T	rs369509799		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:40342259C>T	ENST00000301671.8	-	8	1759	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	GHDC_ENST00000587427.1_Missense_Mutation_p.E440K|GHDC_ENST00000414034.3_Silent_p.T469T|GHDC_ENST00000428494.2_Missense_Mutation_p.E401K|GHDC_ENST00000436923.2_Silent_p.T469T|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000593209.1_Missense_Mutation_p.E440K			Q8N2G8	GHDC_HUMAN	GH3 domain containing	440						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E440K(1)|p.T469T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		ACAAACACCTCGTAGTGGGGA	0.557																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)						C	LYS/GLU,,LYS/GLU	0,4406		0,0,2203	122.0	116.0	118.0		1201,1407,1318	4.6	1.0	17		118	1,8599	1.2+/-3.3	0,1,4299	no	missense,coding-synonymous,missense	GHDC	NM_001142622.1,NM_001142623.1,NM_032484.4	56,,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	401/492,469/475,440/531	40342259	1,13005	2203	4300	6503	SO:0001583	missense	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1318G>A	17.37:g.40342259C>T	ENSP00000301671:p.Glu440Lys		B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	pfam_GH3	p.E440K	ENST00000301671.8	37	c.1318	CCDS11422.1	17	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235489	0.79800	0.0	1.16E-4	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000301671	.	.	.	4.59	4.59	0.56863	.	0.153289	0.45606	D	0.000351	T	0.66458	0.2791	.	.	.	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.83275	0.834;0.996	T	0.59768	-0.7392	8	0.08179	T	0.78	-21.7158	16.1476	0.81580	0.0:1.0:0.0:0.0	.	401;440	E9PDB5;Q8N2G8	.;GHDC_HUMAN	K	384;401;440	.	ENSP00000301671:E440K	E	-	1	0	GHDC	37595785	0.999000	0.42202	1.000000	0.80357	0.912000	0.54170	3.465000	0.53064	2.391000	0.81399	0.555000	0.69702	GAG	GHDC	-	pfam_GH3		0.557	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GHDC	HGNC	protein_coding	OTTHUMT00000449794.1	C	NM_032484		40342259	-1	no_errors	ENST00000301671	ensembl	human	known	70_37	missense	SNP	1.000	T
GIGYF2	26058	genome.wustl.edu	37	2	233651973	233651973	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:233651973G>A	ENST00000409547.1	+	11	957	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	GIGYF2_ENST00000373563.4_Missense_Mutation_p.E216K|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E238K|GIGYF2_ENST00000373566.3_Missense_Mutation_p.E238K|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E238K|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E47K|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E216K	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	216	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E216K(1)|p.E238K(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGGAGAAGATGAAGATGGAGG	0.473																																																	2	Substitution - Missense(2)	cervix(2)											118.0	122.0	121.0					2																	233651973		2203	4300	6503	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.646G>A	2.37:g.233651973G>A	ENSP00000386537:p.Glu216Lys		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.E238K	ENST00000409547.1	37	c.712	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.386965	0.95988	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	T;T;T;T;T;T;T;T;T;T	0.79845	-0.99;-0.75;-0.99;-0.75;-1.0;-0.82;-0.99;-0.93;-1.31;-0.84	5.93	5.93	0.95920	.	0.107754	0.64402	D	0.000007	D	0.83889	0.5352	L	0.39898	1.24	0.50632	D	0.999888	D;D;P;P	0.58620	0.983;0.972;0.501;0.949	P;P;B;P	0.55455	0.74;0.776;0.156;0.694	T	0.82934	-0.0211	10	0.46703	T	0.11	-21.9064	20.3311	0.98718	0.0:0.0:1.0:0.0	.	47;238;216;216	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	K	238;165;216;238;216;216;165;216;238;216;47;47;43	ENSP00000362667:E238K;ENSP00000362664:E216K;ENSP00000386765:E238K;ENSP00000386537:E216K;ENSP00000404195:E165K;ENSP00000387070:E216K;ENSP00000387170:E238K;ENSP00000410297:E216K;ENSP00000392218:E47K;ENSP00000411505:E47K	ENSP00000362664:E216K	E	+	1	0	GIGYF2	233360217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.797000	0.96272	0.655000	0.94253	GAA	GIGYF2	-	NULL		0.473	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	G	NM_001103146		233651973	+1	no_errors	ENST00000373566	ensembl	human	known	70_37	missense	SNP	1.000	A
GINS3	64785	genome.wustl.edu	37	16	58426654	58426654	+	Missense_Mutation	SNP	G	G	A	rs374002916		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:58426654G>A	ENST00000318129.5	+	1	357	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	GINS3_ENST00000328514.7_Missense_Mutation_p.R50Q|GINS3_ENST00000426538.2_Missense_Mutation_p.R50Q	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	50					DNA replication (GO:0006260)	nucleus (GO:0005634)		p.R50Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TTCCTGGAGCGGAGCGCAGGC	0.662																																																	1	Substitution - Missense(1)	cervix(1)											27.0	28.0	28.0					16																	58426654		2198	4300	6498	SO:0001583	missense	64785			BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.149G>A	16.37:g.58426654G>A	ENSP00000318196:p.Arg50Gln		B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	pfam_GINS_complex	p.R50Q	ENST00000318129.5	37	c.149	CCDS10796.1	16	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529238	0.64860	.	.	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	T	0.14022	2.54	5.51	4.53	0.55603	.	0.299745	0.31145	N	0.008167	T	0.06690	0.0171	N	0.16478	0.41	0.09310	N	1	B;B;B	0.26547	0.152;0.011;0.001	B;B;B	0.13407	0.009;0.001;0.0	T	0.37314	-0.9711	10	0.13853	T	0.58	-0.0159	7.043	0.25031	0.0871:0.0:0.7396:0.1733	.	50;50;50	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	Q	50	ENSP00000318196:R50Q	ENSP00000318196:R50Q	R	+	2	0	GINS3	56984155	0.972000	0.33761	0.886000	0.34754	0.732000	0.41865	2.750000	0.47500	1.281000	0.44480	0.591000	0.81541	CGG	GINS3	-	NULL		0.662	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS3	HGNC	protein_coding	OTTHUMT00000257384.2	G	NM_022770		58426654	+1	no_errors	ENST00000426538	ensembl	human	known	70_37	missense	SNP	0.102	A
GJA1	2697	genome.wustl.edu	37	6	121768311	121768311	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:121768311G>A	ENST00000282561.3	+	2	475	c.318G>A	c.(316-318)ctG>ctA	p.L106L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	106			L -> P (in ODDD). {ECO:0000269|PubMed:19338053}.|L -> R (in ODDD). {ECO:0000269|PubMed:24508941}.		adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.L106L(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	AAGAGAAACTGAACAAGAAAG	0.443																																																	1	Substitution - coding silent(1)	cervix(1)											94.0	83.0	87.0					6																	121768311		2203	4300	6503	SO:0001819	synonymous_variant	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.318G>A	6.37:g.121768311G>A			B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.L106	ENST00000282561.3	37	c.318	CCDS5123.1	6																																																																																			GJA1	-	pfam_Connexin_N		0.443	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	G	NM_000165		121768311	+1	no_errors	ENST00000282561	ensembl	human	known	70_37	silent	SNP	1.000	A
GJA1	2697	genome.wustl.edu	37	6	121768436	121768436	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:121768436G>A	ENST00000282561.3	+	2	600	c.443G>A	c.(442-444)cGa>cAa	p.R148Q		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	148			R -> Q (in dbSNP:rs2228960). {ECO:0000269|PubMed:14729836}.		adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.R148Q(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GTGAAAATGCGAGGGGGGTTG	0.453																																																	1	Substitution - Missense(1)	cervix(1)	GRCh37	CM040077	GJA1	M							121.0	116.0	118.0					6																	121768436		2203	4300	6503	SO:0001583	missense	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.443G>A	6.37:g.121768436G>A	ENSP00000282561:p.Arg148Gln		B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.R148Q	ENST00000282561.3	37	c.443	CCDS5123.1	6	.	.	.	.	.	.	.	.	.	.	G	9.845	1.192005	0.21954	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.97352	-4.35	5.42	4.55	0.56014	.	0.056566	0.64402	D	0.000003	D	0.89058	0.6607	L	0.35542	1.07	0.43652	D	0.996068	P	0.42203	0.773	B	0.29785	0.107	D	0.88685	0.3205	10	0.30854	T	0.27	.	14.0937	0.65006	0.0725:0.0:0.9275:0.0	.	148	P17302	CXA1_HUMAN	Q	132;148	ENSP00000282561:R148Q	ENSP00000282561:R148Q	R	+	2	0	GJA1	121810135	1.000000	0.71417	0.870000	0.34147	0.100000	0.18952	7.628000	0.83189	1.314000	0.45095	0.460000	0.39030	CGA	GJA1	-	NULL		0.453	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	G	NM_000165		121768436	+1	no_errors	ENST00000282561	ensembl	human	known	70_37	missense	SNP	0.995	A
GLIS2	84662	genome.wustl.edu	37	16	4383413	4383413	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:4383413G>C	ENST00000262366.3	+	4	1059	c.238G>C	c.(238-240)Gac>Cac	p.D80H	GLIS2_ENST00000433375.1_Missense_Mutation_p.D80H|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	80	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.D80H(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCTCTCGTGGACCTCAGCCT	0.647																																																	1	Substitution - Missense(1)	cervix(1)											43.0	35.0	38.0					16																	4383413		2196	4299	6495	SO:0001583	missense	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.238G>C	16.37:g.4383413G>C	ENSP00000262366:p.Asp80His		B3KX84	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D80H	ENST00000262366.3	37	c.238	CCDS10511.1	16	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211470	0.79240	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.13307	2.6;2.6	4.83	4.83	0.62350	.	0.121997	0.52532	D	0.000066	T	0.26048	0.0635	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.01874	-1.1256	10	0.54805	T	0.06	.	15.5005	0.75695	0.0:0.0:1.0:0.0	.	80	Q9BZE0	GLIS2_HUMAN	H	80	ENSP00000262366:D80H;ENSP00000395547:D80H	ENSP00000262366:D80H	D	+	1	0	GLIS2	4323414	1.000000	0.71417	0.997000	0.53966	0.758000	0.43043	6.763000	0.74955	2.241000	0.73720	0.485000	0.47835	GAC	GLIS2	-	NULL		0.647	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	G	NM_032575		4383413	+1	no_errors	ENST00000262366	ensembl	human	known	70_37	missense	SNP	1.000	C
GLIS2	84662	genome.wustl.edu	37	16	4383476	4383476	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:4383476G>A	ENST00000262366.3	+	4	1122	c.301G>A	c.(301-303)Gag>Aag	p.E101K	GLIS2_ENST00000433375.1_Missense_Mutation_p.E101K|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	101	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.E101K(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCTGTCCCCCGAGCGCCAGGG	0.657																																																	1	Substitution - Missense(1)	cervix(1)											21.0	20.0	20.0					16																	4383476		2195	4298	6493	SO:0001583	missense	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.301G>A	16.37:g.4383476G>A	ENSP00000262366:p.Glu101Lys		B3KX84	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E101K	ENST00000262366.3	37	c.301	CCDS10511.1	16	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667195	0.67814	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	T;T	0.13420	2.59;2.59	4.83	4.83	0.62350	.	0.064399	0.64402	D	0.000013	T	0.21801	0.0525	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.04103	-1.0977	10	0.35671	T	0.21	.	15.5005	0.75695	0.0:0.0:1.0:0.0	.	101	Q9BZE0	GLIS2_HUMAN	K	101	ENSP00000262366:E101K;ENSP00000395547:E101K	ENSP00000262366:E101K	E	+	1	0	GLIS2	4323477	1.000000	0.71417	0.951000	0.38953	0.600000	0.36913	6.462000	0.73526	2.241000	0.73720	0.485000	0.47835	GAG	GLIS2	-	NULL		0.657	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	G	NM_032575		4383476	+1	no_errors	ENST00000262366	ensembl	human	known	70_37	missense	SNP	0.995	A
GLS	2744	genome.wustl.edu	37	2	191769883	191769883	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:191769883G>A	ENST00000320717.3	+	6	1227	c.969G>A	c.(967-969)ttG>ttA	p.L323L	GLS_ENST00000338435.4_Silent_p.L323L	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	323					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.L323L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	AACTATTTTTGAATGAAGATG	0.294																																																	1	Substitution - coding silent(1)	cervix(1)											78.0	78.0	78.0					2																	191769883		2203	4300	6503	SO:0001819	synonymous_variant	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.969G>A	2.37:g.191769883G>A			Q9UL05|Q9UL06|Q9UL07|Q9UN40	Silent	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.L323	ENST00000320717.3	37	c.969	CCDS2308.1	2																																																																																			GLS	-	pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase		0.294	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS	HGNC	protein_coding	OTTHUMT00000255999.2	G			191769883	+1	no_errors	ENST00000320717	ensembl	human	known	70_37	silent	SNP	0.982	A
GM2A	2760	genome.wustl.edu	37	5	150632828	150632828	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:150632828C>T	ENST00000357164.3	+	1	376	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	17					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)	p.L17L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTGCTTCTCGCGGCCCCTG	0.627																																																	1	Substitution - coding silent(1)	cervix(1)											57.0	57.0	57.0					5																	150632828		2203	4300	6503	SO:0001819	synonymous_variant	2760				CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"""cerebroside sulfate activator protein"", ""sphingolipid activator protein 3"""	613109	"""GM2 ganglioside activator protein"""			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.51C>T	5.37:g.150632828C>T			B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Silent	SNP	smart_MD-2_lipid-recog	p.L17	ENST00000357164.3	37	c.51	CCDS4313.1	5																																																																																			GM2A	-	NULL		0.627	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GM2A	HGNC	protein_coding	OTTHUMT00000252432.1	C	NM_000405		150632828	+1	no_errors	ENST00000357164	ensembl	human	known	70_37	silent	SNP	0.006	T
GMDS	2762	genome.wustl.edu	37	6	1624425	1624425	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:1624425C>G	ENST00000380815.4	-	11	1367	c.1098G>C	c.(1096-1098)atG>atC	p.M366I	GMDS_ENST00000530927.1_Missense_Mutation_p.M336I|GMDS_ENST00000467288.2_5'UTR	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	366					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)	p.M366I(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GGTTTGTCCTCATGAGCTCCA	0.677																																																	1	Substitution - Missense(1)	cervix(1)											64.0	56.0	59.0					6																	1624425		2203	4300	6503	SO:0001583	missense	2762			AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.1098G>C	6.37:g.1624425C>G	ENSP00000370194:p.Met366Ile		E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	p.M366I	ENST00000380815.4	37	c.1098	CCDS4474.1	6	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342272	0.61073	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	M	0.74389	2.26	0.80722	D	1	B	0.14805	0.011	B	0.15052	0.012	T	0.57124	-0.7865	9	0.35671	T	0.21	-7.4865	17.3548	0.87333	0.0:1.0:0.0:0.0	.	366	O60547	GMDS_HUMAN	I	336;366	.	ENSP00000370194:M366I	M	-	3	0	GMDS	1569424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.054000	0.71096	2.604000	0.88044	0.555000	0.69702	ATG	GMDS	-	NULL		0.677	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GMDS	HGNC	protein_coding	OTTHUMT00000043380.3	C			1624425	-1	no_errors	ENST00000380815	ensembl	human	known	70_37	missense	SNP	1.000	G
GMPPA	29926	genome.wustl.edu	37	2	220370347	220370347	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:220370347C>T	ENST00000358215.3	+	9	1222				GMPPA_ENST00000341142.3_Intron|GMPPA_ENST00000373908.1_Intron|GMPPA_ENST00000313597.5_Intron|GMPPA_ENST00000373917.3_Missense_Mutation_p.S308L|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TTCTTGACCTCGAGTCCAGAG	0.557																																																	0																																										SO:0001627	intron_variant	29926			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.853+70C>T	2.37:g.220370347C>T			A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	pfam_NTP_transferase,superfamily_Trimer_LpxA-like	p.S308L	ENST00000358215.3	37	c.923	CCDS2441.1	2	.	.	.	.	.	.	.	.	.	.	c	9.648	1.140820	0.21205	.	.	ENSG00000144591	ENST00000373917	T	0.18657	2.2	3.84	-2.44	0.06502	.	.	.	.	.	T	0.10937	0.0267	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37572	-0.9700	7	.	.	.	-0.2013	8.0274	0.30444	0.0:0.2638:0.5483:0.1879	.	308	Q96IJ6-2	.	L	308	ENSP00000363027:S308L	.	S	+	2	0	GMPPA	220078591	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	-1.673000	0.01951	-0.325000	0.08577	0.457000	0.33378	TCG	GMPPA	-	NULL		0.557	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPPA	HGNC	protein_coding	OTTHUMT00000130230.1	C	NM_013335		220370347	+1	no_errors	ENST00000373917	ensembl	human	novel	70_37	missense	SNP	0.000	T
GMPR	2766	genome.wustl.edu	37	6	16295275	16295275	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:16295275G>C	ENST00000259727.4	+	9	1010	c.896G>C	c.(895-897)gGa>gCa	p.G299A	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	299					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.G299A(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CCTTACAAAGGAGATGTGGAA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											79.0	79.0	79.0					6																	16295275		2203	4300	6503	SO:0001583	missense	2766				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.896G>C	6.37:g.16295275G>C	ENSP00000259727:p.Gly299Ala		Q96HQ6	Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	p.G299A	ENST00000259727.4	37	c.896	CCDS4537.1	6	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043541	0.75732	.	.	ENSG00000137198	ENST00000259727	D	0.94280	-3.39	5.77	5.77	0.91146	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99552	1.0966	10	0.87932	D	0	-17.5382	19.9915	0.97366	0.0:0.0:1.0:0.0	.	299	P36959	GMPR1_HUMAN	A	299	ENSP00000259727:G299A	ENSP00000259727:G299A	G	+	2	0	GMPR	16403254	1.000000	0.71417	0.960000	0.40013	0.221000	0.24807	9.869000	0.99810	2.723000	0.93209	0.655000	0.94253	GGA	GMPR	-	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1		0.507	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPR	HGNC	protein_coding	OTTHUMT00000039942.2	G			16295275	+1	no_errors	ENST00000259727	ensembl	human	known	70_37	missense	SNP	1.000	C
GMPS	8833	genome.wustl.edu	37	3	155632226	155632226	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:155632226C>T	ENST00000496455.2	+	8	1240	c.905C>T	c.(904-906)tCt>tTt	p.S302F	GMPS_ENST00000295920.7_Missense_Mutation_p.S203F	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	302	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.S302F(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GCTGCTCATTCTTTCTACAAT	0.343			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	1	Substitution - Missense(1)	cervix(1)											115.0	105.0	108.0					3																	155632226		1835	4081	5916	SO:0001583	missense	8833			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.905C>T	3.37:g.155632226C>T	ENSP00000419851:p.Ser302Phe		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	pfam_GATASE_1,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.S302F	ENST00000496455.2	37	c.905	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249536	0.59212	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	T;T	0.43294	0.95;0.95	5.88	5.88	0.94601	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.060754	0.64402	D	0.000002	T	0.45256	0.1333	L	0.60067	1.865	0.80722	D	1	B;B	0.26363	0.037;0.147	B;B	0.33254	0.099;0.16	T	0.25222	-1.0138	10	0.31617	T	0.26	-10.6935	16.4624	0.84064	0.0:0.869:0.131:0.0	.	203;302	F8W720;P49915	.;GUAA_HUMAN	F	302;203;251;302	ENSP00000419851:S302F;ENSP00000295920:S203F	ENSP00000295920:S203F	S	+	2	0	GMPS	157114920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.555000	0.67301	2.780000	0.95670	0.655000	0.94253	TCT	GMPS	-	pfam_NAD/GMP_synthase,pfam_tRNA-specific_2-thiouridylase		0.343	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2	C			155632226	+1	no_errors	ENST00000496455	ensembl	human	known	70_37	missense	SNP	1.000	T
GNB3	2784	genome.wustl.edu	37	12	6954849	6954849	+	Missense_Mutation	SNP	G	G	A	rs150593798		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:6954849G>A	ENST00000229264.3	+	10	1204	c.799G>A	c.(799-801)Gag>Aag	p.E267K	CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.E266K|CDCA3_ENST00000604599.1_5'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	267					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.E267K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CTTCTCCCACGAGAGCATCAT	0.592																																																	1	Substitution - Missense(1)	cervix(1)						G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	158.0	145.0	150.0		799	4.5	1.0	12	dbSNP_134	150	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GNB3	NM_002075.2	56	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	267/341	6954849	3,13003	2203	4300	6503	SO:0001583	missense	2784				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.799G>A	12.37:g.6954849G>A	ENSP00000229264:p.Glu267Lys		Q96B71|Q9BQC0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.E267K	ENST00000229264.3	37	c.799	CCDS8564.1	12	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842059	0.51057	2.27E-4	2.33E-4	ENSG00000111664	ENST00000229264;ENST00000435982;ENST00000537035	T;T;T	0.01304	5.03;5.03;5.05	4.49	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.179933	0.49305	D	0.000155	T	0.02533	0.0077	M	0.69463	2.115	0.43043	D	0.994639	P;B	0.40050	0.7;0.034	B;B	0.33454	0.164;0.027	T	0.58967	-0.7542	10	0.41790	T	0.15	-6.0329	17.3724	0.87382	0.0:0.0:1.0:0.0	.	266;267	E9PCP0;P16520	.;GBB3_HUMAN	K	267;266;226	ENSP00000229264:E267K;ENSP00000414734:E266K;ENSP00000445967:E226K	ENSP00000229264:E267K	E	+	1	0	GNB3	6825110	1.000000	0.71417	0.972000	0.41901	0.212000	0.24457	4.146000	0.58072	2.313000	0.78055	0.561000	0.74099	GAG	GNB3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat_dom		0.592	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB3	HGNC	protein_coding	OTTHUMT00000400006.1	G	NM_002075		6954849	+1	no_errors	ENST00000229264	ensembl	human	known	70_37	missense	SNP	0.998	A
GNL1	2794	genome.wustl.edu	37	6	30522575	30522575	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:30522575G>A	ENST00000376621.3	-	4	1464	c.494C>T	c.(493-495)tCt>tTt	p.S165F	PRR3_ENST00000376557.3_5'Flank|PRR3_ENST00000376560.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	165					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)	p.S165F(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GAGTTTCTCAGAGGAGTAAGC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											114.0	88.0	97.0					6																	30522575		1511	2709	4220	SO:0001583	missense	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.494C>T	6.37:g.30522575G>A	ENSP00000365806:p.Ser165Phe		B0S838|Q96CT5	Missense_Mutation	SNP	pfam_GTP_binding_domain	p.S165F	ENST00000376621.3	37	c.494	CCDS4680.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993297	0.74703	.	.	ENSG00000204590	ENST00000376621;ENST00000429126;ENST00000433809	T	0.47177	0.85	5.84	4.92	0.64577	.	0.325270	0.32444	N	0.006090	T	0.34832	0.0911	L	0.47190	1.495	0.47214	D	0.99935	P;P;B	0.43701	0.815;0.529;0.139	B;B;B	0.42916	0.179;0.402;0.037	T	0.29397	-1.0013	10	0.59425	D	0.04	-38.2732	14.6794	0.69006	0.0:0.0:0.854:0.1459	.	163;27;165	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	F	165;27;163	ENSP00000365806:S165F	ENSP00000365806:S165F	S	-	2	0	GNL1	30630554	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	5.065000	0.64344	2.765000	0.95021	0.655000	0.94253	TCT	GNL1	-	NULL		0.493	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	HGNC	protein_coding	OTTHUMT00000076241.2	G			30522575	-1	no_errors	ENST00000376621	ensembl	human	known	70_37	missense	SNP	0.996	A
GNPTAB	79158	genome.wustl.edu	37	12	102158356	102158356	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:102158356C>A	ENST00000299314.7	-	13	2601	c.2339G>T	c.(2338-2340)gGa>gTa	p.G780V	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	780	DMAP-interaction.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.G780V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTCAGACACTCCTAAGCTGTT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											99.0	93.0	95.0					12																	102158356		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2339G>T	12.37:g.102158356C>A	ENSP00000299314:p.Gly780Val		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.G780V	ENST00000299314.7	37	c.2339	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653586	0.29425	.	.	ENSG00000111670	ENST00000299314	T	0.42513	0.97	4.96	-1.44	0.08856	DMAP1-binding (1);	1.039340	0.07491	N	0.905592	T	0.28134	0.0694	L	0.29908	0.895	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.23013	-1.0200	10	0.34782	T	0.22	-0.3192	6.7394	0.23426	0.0:0.1491:0.158:0.6929	.	780	Q3T906	GNPTA_HUMAN	V	780	ENSP00000299314:G780V	ENSP00000299314:G780V	G	-	2	0	GNPTAB	100682487	0.000000	0.05858	0.000000	0.03702	0.341000	0.28922	-0.180000	0.09754	-0.527000	0.06374	-0.136000	0.14681	GGA	GNPTAB	-	pfam_DMAP1-bd		0.413	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	C			102158356	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	0.000	A
GOLGB1	2804	genome.wustl.edu	37	3	121410890	121410890	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:121410890C>G	ENST00000340645.5	-	14	7431	c.7306G>C	c.(7306-7308)Gat>Cat	p.D2436H	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D2441H	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2436					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)	p.D2436H(1)		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)		TTGGTTTTATCAACAGCCTTT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											158.0	155.0	156.0					3																	121410890		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.7306G>C	3.37:g.121410890C>G	ENSP00000341848:p.Asp2436His		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.D2436H	ENST00000340645.5	37	c.7306	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.719792	0.00700	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14640	2.49;2.49	5.79	1.72	0.24424	.	0.381500	0.24854	N	0.035077	T	0.16300	0.0392	L	0.54323	1.7	0.18873	N	0.999989	B;B;B	0.13145	0.007;0.001;0.004	B;B;B	0.14023	0.01;0.003;0.01	T	0.18209	-1.0344	10	0.48119	T	0.1	.	17.0696	0.86569	0.0:0.4353:0.5647:0.0	.	2441;2441;2436	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	H	2436;2441	ENSP00000341848:D2436H;ENSP00000377275:D2441H	ENSP00000341848:D2436H	D	-	1	0	GOLGB1	122893580	0.061000	0.20836	0.468000	0.27192	0.113000	0.19764	1.677000	0.37576	0.008000	0.14787	-0.344000	0.07964	GAT	GOLGB1	-	NULL		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121410890	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.227	G
GON4L	54856	genome.wustl.edu	37	1	155735069	155735069	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155735069C>T	ENST00000368331.1	-	21	4243	c.4195G>A	c.(4195-4197)Gaa>Aaa	p.E1399K	GON4L_ENST00000271883.5_Missense_Mutation_p.E1399K|GON4L_ENST00000361040.5_Missense_Mutation_p.E1399K|GON4L_ENST00000437809.1_Missense_Mutation_p.E1399K|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1399					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E1399K(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAGGTTCCTTCATCAGGGGGC	0.493																																																	3	Substitution - Missense(3)	cervix(3)											86.0	81.0	83.0					1																	155735069		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4195G>A	1.37:g.155735069C>T	ENSP00000357315:p.Glu1399Lys		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1399K	ENST00000368331.1	37	c.4195		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.07|16.07	3.020053|3.020053	0.54576|0.54576	.|.	.|.	ENSG00000116580|ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040|ENST00000539959	T;T;T;T|.	0.13657|.	2.78;2.78;2.78;2.57|.	5.19|5.19	4.27|4.27	0.50696|0.50696	.|.	0.546087|.	0.18434|.	N|.	0.141325|.	T|T	0.32645|0.32645	0.0836|0.0836	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;P;B;P|.	0.40144|.	0.063;0.704;0.418;0.554|.	B;B;B;B|.	0.36845|.	0.022;0.109;0.118;0.234|.	T|T	0.28299|0.28299	-1.0048|-1.0048	10|6	0.30078|0.24483	T|T	0.28|0.36	.|.	15.5167|15.5167	0.75830|0.75830	0.0:0.861:0.139:0.0|0.0:0.861:0.139:0.0	.|.	1399;595;1399;1399|.	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3|.	.;.;GON4L_HUMAN;.|.	K|I	1399|963	ENSP00000396117:E1399K;ENSP00000357315:E1399K;ENSP00000271883:E1399K;ENSP00000354322:E1399K|.	ENSP00000271883:E1399K|ENSP00000444059:M963I	E|M	-|-	1|3	0|0	GON4L|GON4L	154001693|154001693	0.104000|0.104000	0.21937|0.21937	0.004000|0.004000	0.12327|0.12327	0.047000|0.047000	0.14425|0.14425	1.668000|1.668000	0.37481|0.37481	1.410000|1.410000	0.46936|0.46936	0.650000|0.650000	0.86243|0.86243	GAA|ATG	GON4L	-	NULL		0.493	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155735069	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.052	T
GP1BA	2811	genome.wustl.edu	37	17	4836334	4836334	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:4836334C>G	ENST00000329125.5	+	2	510	c.435C>G	c.(433-435)ctC>ctG	p.L145L		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	145			L -> P (in BSS). {ECO:0000269|PubMed:10089893}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.L145L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TCCAAGAGCTCTACCTGAAAG	0.602																																																	1	Substitution - coding silent(1)	cervix(1)											79.0	80.0	80.0					17																	4836334		2117	4231	6348	SO:0001819	synonymous_variant	2811				CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.435C>G	17.37:g.4836334C>G			E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	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.L145	ENST00000329125.5	37	c.435	CCDS54068.1	17																																																																																			GP1BA	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.602	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP1BA	HGNC	protein_coding	OTTHUMT00000439889.1	C			4836334	+1	no_errors	ENST00000329125	ensembl	human	known	70_37	silent	SNP	0.994	G
GPR114	221188	genome.wustl.edu	37	16	57601501	57601501	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:57601501C>T	ENST00000340339.4	+	8	1342	c.819C>T	c.(817-819)ttC>ttT	p.F273F	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.F273F	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	273					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)	p.F273F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACTTCCATTTCAGGTATTCCG	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											77.0	63.0	68.0					16																	57601501		2198	4300	6498	SO:0001819	synonymous_variant	221188			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.819C>T	16.37:g.57601501C>T			B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.F273	ENST00000340339.4	37	c.819	CCDS10785.1	16																																																																																			GPR114	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.572	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3	C	NM_153837		57601501	+1	no_errors	ENST00000340339	ensembl	human	known	70_37	silent	SNP	0.696	T
GPR179	440435	genome.wustl.edu	37	17	36485974	36485974	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:36485974G>A	ENST00000342292.4	-	11	3498	c.3478C>T	c.(3478-3480)Cac>Tac	p.H1160Y	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1160					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H1160Y(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCTGGTGTGAGCGTTCTGT	0.607																																																	1	Substitution - Missense(1)	cervix(1)											174.0	176.0	175.0					17																	36485974		2138	4242	6380	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3478C>T	17.37:g.36485974G>A	ENSP00000345060:p.His1160Tyr			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.H1160Y	ENST00000342292.4	37	c.3478	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964808	0.53507	.	.	ENSG00000188888	ENST00000342292	T	0.56941	0.43	5.27	3.28	0.37604	.	0.105841	0.42682	N	0.000675	T	0.57961	0.2089	L	0.32530	0.975	0.27330	N	0.956801	D	0.76494	0.999	D	0.75484	0.986	T	0.50197	-0.8856	10	0.66056	D	0.02	-11.3654	9.0657	0.36462	0.1723:0.0:0.8277:0.0	.	1160	Q6PRD1	GP179_HUMAN	Y	1160	ENSP00000345060:H1160Y	ENSP00000345060:H1160Y	H	-	1	0	GPR179	33739500	0.000000	0.05858	0.978000	0.43139	0.969000	0.65631	0.169000	0.16641	0.782000	0.33613	0.462000	0.41574	CAC	GPR179	-	NULL		0.607	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	G			36485974	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.630	A
GPR179	440435	genome.wustl.edu	37	17	36498924	36498924	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:36498924G>A	ENST00000342292.4	-	1	769	c.749C>T	c.(748-750)tCt>tTt	p.S250F		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	250					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S250F(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAAGGTGGCAGAGAGTGTGAT	0.562																																																	1	Substitution - Missense(1)	cervix(1)											99.0	104.0	102.0					17																	36498924		2111	4234	6345	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.749C>T	17.37:g.36498924G>A	ENSP00000345060:p.Ser250Phe			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.S250F	ENST00000342292.4	37	c.749	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476621	0.84640	.	.	ENSG00000188888	ENST00000342292	T	0.59364	0.27	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000004	T	0.78285	0.4259	M	0.82823	2.61	0.52099	D	0.999946	D	0.89917	1.0	D	0.72625	0.978	T	0.81048	-0.1109	10	0.87932	D	0	-7.6669	17.8981	0.88895	0.0:0.0:1.0:0.0	.	250	Q6PRD1	GP179_HUMAN	F	250	ENSP00000345060:S250F	ENSP00000345060:S250F	S	-	2	0	GPR179	33752450	1.000000	0.71417	0.948000	0.38648	0.976000	0.68499	9.154000	0.94694	2.837000	0.97791	0.655000	0.94253	TCT	GPR179	-	NULL		0.562	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	G			36498924	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR35	2859	genome.wustl.edu	37	2	241570131	241570131	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:241570131C>G	ENST00000319838.5	+	6	1704	c.762C>G	c.(760-762)atC>atG	p.I254M	GPR35_ENST00000407714.1_Missense_Mutation_p.I254M|GPR35_ENST00000430267.1_Missense_Mutation_p.I254M|GPR35_ENST00000438013.2_Missense_Mutation_p.I285M|GPR35_ENST00000403859.1_Missense_Mutation_p.I254M	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	254					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.I254M(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TGGAGACGATCCGTCGCGCCC	0.622																																																	1	Substitution - Missense(1)	cervix(1)											141.0	119.0	126.0					2																	241570131		2203	4300	6503	SO:0001583	missense	2859				CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.762C>G	2.37:g.241570131C>G	ENSP00000322731:p.Ile254Met		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I285M	ENST00000319838.5	37	c.855	CCDS2541.1	2	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996135	0.19043	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	3.34	0.384	0.16244	GPCR, rhodopsin-like superfamily (1);	0.271785	0.32624	U	0.005859	T	0.35335	0.0928	M	0.68952	2.095	0.09310	N	1	B;B;B	0.25390	0.101;0.125;0.015	B;B;B	0.35182	0.13;0.197;0.082	T	0.33497	-0.9866	10	0.42905	T	0.14	-4.5772	6.47	0.22003	0.0:0.5381:0.0:0.4619	.	339;285;254	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	M	254;254;285;254;254	ENSP00000322731:I254M;ENSP00000385140:I254M;ENSP00000415890:I285M;ENSP00000384263:I254M;ENSP00000411788:I254M	ENSP00000322731:I254M	I	+	3	3	GPR35	241218804	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.260000	0.08708	-0.035000	0.13691	0.305000	0.20034	ATC	GPR35	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.622	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPR35	HGNC	protein_coding	OTTHUMT00000325631.1	C	NM_001195382		241570131	+1	no_errors	ENST00000438013	ensembl	human	known	70_37	missense	SNP	0.001	G
GPR64	10149	genome.wustl.edu	37	X	19049108	19049108	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:19049108C>T	ENST00000379869.3	-	9	515	c.352G>A	c.(352-354)Gac>Aac	p.D118N	GPR64_ENST00000357544.3_Missense_Mutation_p.D88N|GPR64_ENST00000340581.3_Missense_Mutation_p.D88N|GPR64_ENST00000356606.4_Missense_Mutation_p.D104N|GPR64_ENST00000379876.1_Missense_Mutation_p.D94N|GPR64_ENST00000354791.3_Missense_Mutation_p.D102N|GPR64_ENST00000379878.3_Missense_Mutation_p.D102N|GPR64_ENST00000379873.2_Missense_Mutation_p.D118N|GPR64_ENST00000357991.3_Missense_Mutation_p.D115N|GPR64_ENST00000360279.4_Missense_Mutation_p.D96N	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	118					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.D115N(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAACCTGAGTCATTGCAAATA	0.388																																																	1	Substitution - Missense(1)	cervix(1)											159.0	154.0	155.0					X																	19049108		2203	4300	6503	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.352G>A	X.37:g.19049108C>T	ENSP00000369198:p.Asp118Asn		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D118N	ENST00000379869.3	37	c.352	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208264	0.58343	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581;ENST00000397917	T;T;T;T;T;T;T;T;T;T	0.39997	1.23;1.34;1.34;1.37;1.36;1.39;1.36;1.39;1.38;1.05	5.56	3.8	0.43715	.	0.114348	0.38005	N	0.001859	T	0.26412	0.0645	N	0.17082	0.46	0.24403	N	0.994693	B;B;B;B;B;B;B;B;B;B;B	0.12630	0.006;0.003;0.003;0.003;0.003;0.006;0.003;0.003;0.003;0.002;0.002	B;B;B;B;B;B;B;B;B;B;B	0.20577	0.008;0.012;0.012;0.012;0.012;0.03;0.012;0.012;0.012;0.005;0.005	T	0.22103	-1.0226	10	0.87932	D	0	.	7.8088	0.29219	0.0:0.8041:0.0:0.1959	.	88;80;88;94;102;118;96;104;115;118;102	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	N	118;102;102;94;88;118;96;115;104;88;41	ENSP00000369202:D118N;ENSP00000369207:D102N;ENSP00000346845:D102N;ENSP00000369205:D94N;ENSP00000350152:D88N;ENSP00000369198:D118N;ENSP00000353421:D96N;ENSP00000350680:D115N;ENSP00000349015:D104N;ENSP00000344972:D88N	ENSP00000344972:D88N	D	-	1	0	GPR64	18959029	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.348000	0.33987	0.626000	0.30322	0.594000	0.82650	GAC	GPR64	-	NULL		0.388	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	C			19049108	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	89940684	89940684	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:89940684G>A	ENST00000405460.2	+	15	2992	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	966	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E966K(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTTCCAGATGAGGTAAATAT	0.294																																																	1	Substitution - Missense(1)	cervix(1)											92.0	82.0	85.0					5																	89940684		1814	4075	5889	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2896G>A	5.37:g.89940684G>A	ENSP00000384582:p.Glu966Lys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E966K	ENST00000405460.2	37	c.2896	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948572	0.92593	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28255	1.62	5.51	5.51	0.81932	Na-Ca exchanger/integrin-beta4 (1);	0.046193	0.85682	D	0.000000	T	0.55513	0.1925	M	0.74881	2.28	0.80722	D	1	D	0.69078	0.997	P	0.61533	0.89	T	0.57505	-0.7800	10	0.59425	D	0.04	.	19.4749	0.94983	0.0:0.0:1.0:0.0	.	966	Q8WXG9	GPR98_HUMAN	K	966	ENSP00000384582:E966K	ENSP00000296619:E966K	E	+	1	0	GPR98	89976440	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.464000	0.80887	2.605000	0.88082	0.454000	0.30748	GAG	GPR98	-	smart_Calx_beta		0.294	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89940684	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A
GPRASP1	9737	genome.wustl.edu	37	X	101909941	101909941	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:101909941C>G	ENST00000361600.5	+	5	1901	c.1100C>G	c.(1099-1101)tCa>tGa	p.S367*	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.S367*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.S367*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.S367*	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	367					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S367*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATACCTTTTCAAGGCCCATG	0.488																																																	1	Substitution - Nonsense(1)	cervix(1)											50.0	59.0	56.0					X																	101909941		2202	4299	6501	SO:0001587	stop_gained	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1100C>G	X.37:g.101909941C>G	ENSP00000355146:p.Ser367*		O43168|Q96LA1	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S367*	ENST00000361600.5	37	c.1100	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.843442	0.98974	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.32	-2.31	0.06765	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1279	8.4942	0.33119	0.0:0.2467:0.0:0.7533	.	.	.	.	X	367	.	ENSP00000355146:S367X	S	+	2	0	GPRASP1	101796597	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-1.108000	0.03313	-0.849000	0.04158	0.458000	0.33432	TCA	GPRASP1	-	NULL		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	C	NM_014710		101909941	+1	no_errors	ENST00000361600	ensembl	human	known	70_37	nonsense	SNP	0.000	G
GPRC6A	222545	genome.wustl.edu	37	6	117113846	117113846	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:117113846C>T	ENST00000310357.3	-	6	2261	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	GPRC6A_ENST00000368549.3_Missense_Mutation_p.G676E|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G572E	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	747					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G747E(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGTATGGATCCCTCCTCACA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											63.0	61.0	61.0					6																	117113846		2203	4300	6503	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2240G>A	6.37:g.117113846C>T	ENSP00000309493:p.Gly747Glu		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.G747E	ENST00000310357.3	37	c.2240	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719899	0.68844	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.88741	-2.42;-2.42;-2.42	4.37	4.37	0.52481	GPCR, family 3, C-terminal (2);	0.000000	0.52532	D	0.000062	D	0.94725	0.8298	M	0.88906	2.99	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.964;0.999;0.999	D	0.95570	0.8637	10	0.72032	D	0.01	.	17.0959	0.86635	0.0:1.0:0.0:0.0	.	676;572;747	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	E	747;676;572	ENSP00000309493:G747E;ENSP00000357537:G676E;ENSP00000433465:G572E	ENSP00000309493:G747E	G	-	2	0	GPRC6A	117220539	1.000000	0.71417	0.954000	0.39281	0.915000	0.54546	5.623000	0.67757	2.270000	0.75569	0.591000	0.81541	GGA	GPRC6A	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_vmron_rcpt_2		0.453	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	C			117113846	-1	no_errors	ENST00000310357	ensembl	human	known	70_37	missense	SNP	0.998	T
GRAMD2	196996	genome.wustl.edu	37	15	72460080	72460080	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:72460080G>C	ENST00000309731.7	-	5	382	c.369C>G	c.(367-369)atC>atG	p.I123M	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	123	GRAM.					integral component of membrane (GO:0016021)		p.I123M(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTACTACCTTGATATCCTTGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											78.0	71.0	73.0					15																	72460080		2199	4297	6496	SO:0001583	missense	196996			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.369C>G	15.37:g.72460080G>C	ENSP00000311657:p.Ile123Met		B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.I123M	ENST00000309731.7	37	c.369	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631398	0.67015	.	.	ENSG00000175318	ENST00000309731	D	0.86497	-2.13	5.0	2.0	0.26442	GRAM (2);	0.096428	0.64402	D	0.000001	D	0.88702	0.6508	L	0.49350	1.555	0.38012	D	0.934576	D	0.89917	1.0	D	0.97110	1.0	D	0.86416	0.1751	10	0.87932	D	0	.	4.2599	0.10735	0.0771:0.1384:0.4988:0.2857	.	123	Q8IUY3	GRAM2_HUMAN	M	123	ENSP00000311657:I123M	ENSP00000311657:I123M	I	-	3	3	GRAMD2	70247134	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	2.914000	0.48797	0.259000	0.21709	0.561000	0.74099	ATC	GRAMD2	-	pfam_GRAM,smart_GRAM		0.597	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	G	NM_001012642		72460080	-1	no_errors	ENST00000309731	ensembl	human	known	70_37	missense	SNP	1.000	C
GRID1	2894	genome.wustl.edu	37	10	87484191	87484191	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:87484191C>G	ENST00000327946.7	-	11	1861	c.1776G>C	c.(1774-1776)caG>caC	p.Q592H	GRID1_ENST00000536331.1_Missense_Mutation_p.Q163H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	592					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)	p.Q592H(1)		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						GGGCAGCACTCTGAGCCCTCA	0.547										Multiple Myeloma(13;0.14)																																							1	Substitution - Missense(1)	cervix(1)											57.0	54.0	55.0					10																	87484191		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.1776G>C	10.37:g.87484191C>G	ENSP00000330148:p.Gln592His		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.Q592H	ENST00000327946.7	37	c.1776	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	C	10.52	1.374610	0.24857	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.54479	0.57;0.57	5.61	3.76	0.43208	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.972498	0.08530	N	0.932234	T	0.44350	0.1289	L	0.43152	1.355	0.58432	D	0.999999	B	0.09022	0.002	B	0.12156	0.007	T	0.10800	-1.0614	10	0.10111	T	0.7	.	11.3741	0.49717	0.0:0.8529:0.0:0.1471	.	592	Q9ULK0	GRID1_HUMAN	H	592;163	ENSP00000330148:Q592H;ENSP00000444455:Q163H	ENSP00000330148:Q592H	Q	-	3	2	GRID1	87474171	0.998000	0.40836	0.875000	0.34327	0.951000	0.60555	2.076000	0.41548	0.716000	0.32124	0.650000	0.86243	CAG	GRID1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.547	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	C	XM_043613		87484191	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	missense	SNP	0.998	G
GRIK1	2897	genome.wustl.edu	37	21	31045341	31045341	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:31045341C>G	ENST00000399907.1	-	4	1099	c.688G>C	c.(688-690)Gat>Cat	p.D230H	GRIK1_ENST00000399909.1_Missense_Mutation_p.D230H|GRIK1_ENST00000327783.4_Missense_Mutation_p.D230H|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Missense_Mutation_p.D230H|GRIK1_ENST00000399913.1_Missense_Mutation_p.D230H|GRIK1_ENST00000399914.1_Missense_Mutation_p.D230H|GRIK1_ENST00000389124.2_Missense_Mutation_p.D230H|GRIK1_ENST00000309434.7_Missense_Mutation_p.D230H|GRIK1_ENST00000535441.1_Missense_Mutation_p.D230H	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	230					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.D230H(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TGTGAACAATCAAATATCACA	0.398																																																	2	Substitution - Missense(2)	cervix(2)											148.0	158.0	154.0					21																	31045341		2203	4300	6503	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.688G>C	21.37:g.31045341C>G	ENSP00000382791:p.Asp230His		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D230H	ENST00000399907.1	37	c.688	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759515	0.89932	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.43	5.43	0.79202	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.994;1.0;1.0;1.0	D	0.92069	0.5663	10	0.52906	T	0.07	.	19.0293	0.92948	0.0:1.0:0.0:0.0	.	230;230;230;230;230;230	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	H	230;230;230;230;230;174;230;230;230;230	ENSP00000327687:D230H;ENSP00000373777:D230H;ENSP00000382797:D230H;ENSP00000382798:D230H;ENSP00000446326:D230H;ENSP00000373776:D230H;ENSP00000382791:D230H;ENSP00000382793:D230H;ENSP00000311646:D230H	ENSP00000311646:D230H	D	-	1	0	GRIK1	29967212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.628000	0.83189	2.815000	0.96918	0.650000	0.86243	GAT	GRIK1	-	pfam_ANF_lig-bd_rcpt		0.398	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	C			31045341	-1	no_errors	ENST00000535441	ensembl	human	known	70_37	missense	SNP	1.000	G
GRIK4	2900	genome.wustl.edu	37	11	120776193	120776193	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:120776193G>C	ENST00000527524.2	+	13	1754	c.1467G>C	c.(1465-1467)ctG>ctC	p.L489L	GRIK4_ENST00000438375.2_Silent_p.L489L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	489					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|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)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.L489L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TCGGGGAGCTGATCGCTAGGG	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											80.0	80.0	80.0					11																	120776193		2203	4299	6502	SO:0001819	synonymous_variant	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1467G>C	11.37:g.120776193G>C			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L489	ENST00000527524.2	37	c.1467	CCDS8433.1	11																																																																																			GRIK4	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt		0.597	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	G	NM_014619		120776193	+1	no_errors	ENST00000527524	ensembl	human	known	70_37	silent	SNP	1.000	C
GRIN2B	2904	genome.wustl.edu	37	12	13768193	13768193	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:13768193C>T	ENST00000609686.1	-	7	1718	c.1509G>A	c.(1507-1509)atG>atA	p.M503I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	503					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.M503I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGCCCTCTTCATGACCACCT	0.493																																																	1	Substitution - Missense(1)	cervix(1)											103.0	89.0	94.0					12																	13768193		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1509G>A	12.37:g.13768193C>T	ENSP00000477455:p.Met503Ile		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.M503I	ENST00000609686.1	37	c.1509	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739250	0.49045	.	.	ENSG00000150086	ENST00000279593	T	0.26957	1.7	6.17	6.17	0.99709	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.211175	0.52532	D	0.000077	T	0.13243	0.0321	N	0.03608	-0.345	0.35761	D	0.820185	B	0.11235	0.004	B	0.19946	0.027	T	0.11567	-1.0582	10	0.66056	D	0.02	.	11.0313	0.47774	0.1226:0.7054:0.172:0.0	.	503	Q13224	NMDE2_HUMAN	I	503	ENSP00000279593:M503I	ENSP00000279593:M503I	M	-	3	0	GRIN2B	13659460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.009000	0.40903	2.941000	0.99782	0.655000	0.94253	ATG	GRIN2B	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.493	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	C			13768193	-1	no_errors	ENST00000279593	ensembl	human	known	70_37	missense	SNP	1.000	T
GRIP1	23426	genome.wustl.edu	37	12	66773175	66773175	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:66773175C>T	ENST00000398016.3	-	19	2418	c.2350G>A	c.(2350-2352)Gac>Aac	p.D784N	GRIP1_ENST00000359742.4_Missense_Mutation_p.D836N|GRIP1_ENST00000286445.7_Missense_Mutation_p.D836N	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)	p.D784N(1)		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)		CTCCTCCAGTCATAGGTGTTG	0.463																																																	1	Substitution - Missense(1)	cervix(1)											192.0	186.0	188.0					12																	66773175		1910	4113	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.2350G>A	12.37:g.66773175C>T	ENSP00000381098:p.Asp784Asn		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D836N	ENST00000398016.3	37	c.2506	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.973016|3.973016	0.74246|0.74246	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.78126|.	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.314863|.	0.37178|.	N|.	0.002211|.	T|T	0.57095|0.57095	0.2030|0.2030	L|L	0.29908|0.29908	0.895|0.895	0.43467|0.43467	D|D	0.995678|0.995678	B;B;B;B|.	0.25772|.	0.033;0.134;0.026;0.099|.	B;B;B;B|.	0.25884|.	0.054;0.064;0.015;0.064|.	T|T	0.52888|0.52888	-0.8515|-0.8515	9|5	.|.	.|.	.|.	-10.0137|-10.0137	18.0265|18.0265	0.89270|0.89270	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	784;836;784;836|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	N|I	784;836;836;784;728;676|650	ENSP00000381098:D784N;ENSP00000352780:D836N;ENSP00000286445:D836N;ENSP00000446047:D784N;ENSP00000446024:D728N;ENSP00000446011:D676N|.	.|.	D|M	-|-	1|3	0|0	GRIP1|GRIP1	65059442|65059442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.195000|7.195000	0.77798|0.77798	2.477000|2.477000	0.83638|0.83638	0.561000|0.561000	0.74099|0.74099	GAC|ATG	GRIP1	-	NULL		0.463	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66773175	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	T
GSE1	23199	genome.wustl.edu	37	16	85689362	85689362	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:85689362G>A	ENST00000253458.7	+	6	1004	c.828G>A	c.(826-828)ctG>ctA	p.L276L	GSE1_ENST00000405402.2_Silent_p.L172L|GSE1_ENST00000393243.1_Silent_p.L203L	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	276								p.L276L(1)									TGTCTGCCCTGAGGTCCCCGT	0.647																																																	1	Substitution - coding silent(1)	cervix(1)											93.0	81.0	85.0					16																	85689362		2195	4298	6493	SO:0001819	synonymous_variant	23199			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.828G>A	16.37:g.85689362G>A			D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	pfam_GSE-like	p.L276	ENST00000253458.7	37	c.828	CCDS10952.1	16																																																																																			GSE1	-	NULL		0.647	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSE1	HGNC	protein_coding	OTTHUMT00000325527.1	G	NM_014615		85689362	+1	no_errors	ENST00000253458	ensembl	human	known	70_37	silent	SNP	1.000	A
GSTA3	2940	genome.wustl.edu	37	6	52761709	52761709	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:52761709G>A	ENST00000211122.3	-	7	629	c.564C>T	c.(562-564)atC>atT	p.I188I	GSTA3_ENST00000370968.1_Silent_p.I138I	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	188	GST C-terminal.				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.I188I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GCAGGTTGCTGATTCTGGTTT	0.507																																																	1	Substitution - coding silent(1)	cervix(1)											85.0	84.0	85.0					6																	52761709		2203	4300	6503	SO:0001819	synonymous_variant	2940			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.564C>T	6.37:g.52761709G>A			O43468|Q068V6|Q8WWA8|Q9H415	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.I188	ENST00000211122.3	37	c.564	CCDS4947.1	6																																																																																			GSTA3	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.507	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA3	HGNC	protein_coding	OTTHUMT00000040933.1	G			52761709	-1	no_errors	ENST00000211122	ensembl	human	known	70_37	silent	SNP	1.000	A
GSTP1	2950	genome.wustl.edu	37	11	67353985	67353985	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:67353985C>G	ENST00000398606.3	+	7	819	c.570C>G	c.(568-570)ctC>ctG	p.L190L	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Silent_p.L154L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	190	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)	p.L190L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GGCCCAAGCTCAAGGCCTTCC	0.627																																																	1	Substitution - coding silent(1)	cervix(1)											37.0	39.0	39.0					11																	67353985		1996	4155	6151	SO:0001819	synonymous_variant	2950			U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.570C>G	11.37:g.67353985C>G			O00460|Q15690|Q5TZY3	Silent	SNP	pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_pi	p.L190	ENST00000398606.3	37	c.570	CCDS41679.1	11																																																																																			GSTP1	-	superfamily_Glutathione-S-Trfase_C-like		0.627	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTP1	HGNC	protein_coding	OTTHUMT00000268504.1	C	NM_000852		67353985	+1	no_errors	ENST00000398606	ensembl	human	known	70_37	silent	SNP	1.000	G
GSTT1	2952	genome.wustl.edu	37	22	24384148	24384148	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:24384148G>C	ENST00000248935.5	-	1	136	c.84C>G	c.(82-84)ttC>ttG	p.F28L	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		28	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.F28L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	TGCGCAGCTCGAAGGGAATGT	0.562									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																																								1	Substitution - Missense(1)	cervix(1)											94.0	87.0	89.0					22																	24384148		1711	3611	5322	SO:0001583	missense	2952	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML																												ENST00000248935.5:c.84C>G	22.37:g.24384148G>C	ENSP00000248935:p.Phe28Leu		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.F28L	ENST00000248935.5	37	c.84	CCDS13822.1	22	.	.	.	.	.	.	.	.	.	.	.	24.2	4.507453	0.85282	.	.	ENSG00000184674	ENST00000248935;ENST00000382792;ENST00000452369;ENST00000417870;ENST00000447865	T;T;T	0.64618	3.19;-0.11;3.19	5.32	5.32	0.75619	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.061377	0.64402	U	0.000003	T	0.68604	0.3019	L	0.56199	1.76	0.80722	D	1	D	0.57257	0.979	P	0.52424	0.698	T	0.69269	-0.5189	10	0.48119	T	0.1	-19.8275	16.929	0.86184	0.0:0.0:1.0:0.0	.	28	P30711	GSTT1_HUMAN	L	28	ENSP00000248935:F28L;ENSP00000406003:F28L;ENSP00000397362:F28L	ENSP00000248935:F28L	F	-	3	2	GSTT1	22714148	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	0.949000	0.29109	2.683000	0.91414	0.558000	0.71614	TTC	GSTT1	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.562	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTT1	HGNC	protein_coding	OTTHUMT00000320184.2	G			24384148	-1	no_errors	ENST00000248935	ensembl	human	known	70_37	missense	SNP	1.000	C
POMGNT2	84892	genome.wustl.edu	37	3	43122913	43122913	+	Missense_Mutation	SNP	G	G	A	rs536444876		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:43122913G>A	ENST00000344697.2	-	2	356	c.11C>T	c.(10-12)tCg>tTg	p.S4L	POMGNT2_ENST00000441964.1_Missense_Mutation_p.S4L	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	4					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)	p.S4L(1)									GAACACCGCCGAGAGGTGCAT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											12.0	11.0	11.0					3																	43122913		2178	4252	6430	SO:0001583	missense	84892			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.11C>T	3.37:g.43122913G>A	ENSP00000344125:p.Ser4Leu		B3KWC3|Q96SY3	Missense_Mutation	SNP	pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3	p.S4L	ENST00000344697.2	37	c.11	CCDS2709.1	3	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920372	0.33908	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.78364	-1.17;-1.17	5.75	5.75	0.90469	.	0.264558	0.35870	N	0.002928	T	0.67135	0.2861	L	0.29908	0.895	0.41316	D	0.987148	P	0.35844	0.524	B	0.23018	0.043	T	0.71009	-0.4716	10	0.66056	D	0.02	-9.8089	18.9302	0.92561	0.0:0.0:1.0:0.0	.	4	Q8NAT1	AGO61_HUMAN	L	4	ENSP00000408992:S4L;ENSP00000344125:S4L	ENSP00000344125:S4L	S	-	2	0	C3orf39	43097917	1.000000	0.71417	0.263000	0.24496	0.237000	0.25408	8.177000	0.89688	2.714000	0.92807	0.561000	0.74099	TCG	GTDC2	-	NULL		0.637	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC2	HGNC	protein_coding	OTTHUMT00000256643.1	G	NM_032806		43122913	-1	no_errors	ENST00000344697	ensembl	human	known	70_37	missense	SNP	0.919	A
GTF2IRD1	9569	genome.wustl.edu	37	7	74016760	74016760	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:74016760G>C	ENST00000265755.3	+	27	3273	c.2880G>C	c.(2878-2880)taG>taC	p.*960Y	GTF2IRD1_ENST00000476977.1_3'UTR|GTF2IRD1_ENST00000424337.2_Nonstop_Mutation_p.*945Y|GTF2IRD1_ENST00000455841.2_Nonstop_Mutation_p.*977Y	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	0					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.*960Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTAATTACTAGACCTCAGTAC	0.428																																																	1	Nonstop extension(1)	cervix(1)											111.0	104.0	106.0					7																	74016760		2203	4300	6503	SO:0001578	stop_lost	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2880G>C	7.37:g.74016760G>C	ENSP00000265755:p.*960Tyrext*13		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Nonstop_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.*960Y	ENST00000265755.3	37	c.2880	CCDS5571.1	7	.	.	.	.	.	.	.	.	.	.	G	15.92	2.973951	0.53720	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337	.	.	.	5.66	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7038	0.45944	0.1534:0.0:0.8466:0.0	.	.	.	.	Y	960;977;945	.	.	X	+	3	2	GTF2IRD1	73654696	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.779000	0.55379	1.380000	0.46344	0.561000	0.74099	TAG	GTF2IRD1	-	NULL		0.428	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	G	NM_016328		74016760	+1	no_errors	ENST00000265755	ensembl	human	known	70_37	nonstop	SNP	1.000	C
GTF3C4	9329	genome.wustl.edu	37	9	135546243	135546243	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:135546243C>T	ENST00000372146.4	+	1	822	c.258C>T	c.(256-258)atC>atT	p.I86I	DDX31_ENST00000372153.1_5'Flank|GTF3C4_ENST00000483873.2_Silent_p.I86I|DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000480876.1_5'Flank|DDX31_ENST00000372159.3_5'Flank|DDX31_ENST00000310532.2_5'Flank	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	86					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.I86I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCCGCAGCATCGCTGTGCTGG	0.672																																					Pancreas(142;417 1875 11086 31973 47667)												1	Substitution - coding silent(1)	cervix(1)											27.0	30.0	29.0					9																	135546243		2203	4299	6502	SO:0001819	synonymous_variant	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.258C>T	9.37:g.135546243C>T			Q5VZJ7	Silent	SNP	superfamily_WD40_repeat_dom	p.I86	ENST00000372146.4	37	c.258	CCDS6953.1	9																																																																																			GTF3C4	-	NULL		0.672	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	HGNC	protein_coding	OTTHUMT00000054792.1	C			135546243	+1	no_errors	ENST00000372146	ensembl	human	known	70_37	silent	SNP	0.998	T
GTPBP2	54676	genome.wustl.edu	37	6	43591477	43591477	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:43591477G>C	ENST00000307126.5	-	9	1291	c.1292C>G	c.(1291-1293)tCc>tGc	p.S431C	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.S343C	NM_019096.3	NP_061969.3			GTP binding protein 2									p.S431C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AATTTACCTGGAAAGTGTTCC	0.502																																					GBM(116;405 1620 28302 32150 44768)												1	Substitution - Missense(1)	cervix(1)											116.0	109.0	111.0					6																	43591477		2203	4300	6503	SO:0001583	missense	54676			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1292C>G	6.37:g.43591477G>C	ENSP00000303997:p.Ser431Cys			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.S431C	ENST00000307126.5	37	c.1292	CCDS4903.1	6	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672678	0.47781	.	.	ENSG00000172432	ENST00000393882;ENST00000307126;ENST00000307114;ENST00000434548	T;T	0.30981	1.51;1.51	5.8	5.8	0.92144	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.057350	0.64402	D	0.000001	T	0.16171	0.0389	L	0.37697	1.125	0.52501	D	0.999956	B;P	0.46277	0.012;0.875	B;B	0.40702	0.004;0.338	T	0.01375	-1.1371	10	0.38643	T	0.18	.	14.8391	0.70209	0.0:0.0:0.8562:0.1438	.	423;431	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	C	73;431;343;27	ENSP00000303997:S431C;ENSP00000304893:S343C	ENSP00000304893:S343C	S	-	2	0	GTPBP2	43699455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.930000	0.75858	2.749000	0.94314	0.655000	0.94253	TCC	GTPBP2	-	superfamily_Transl_elong_init/rib_B-barrel		0.502	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1	G			43591477	-1	no_errors	ENST00000307126	ensembl	human	known	70_37	missense	SNP	1.000	C
GUCY2C	2984	genome.wustl.edu	37	12	14836077	14836077	+	Missense_Mutation	SNP	G	G	C	rs56003832	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:14836077G>C	ENST00000261170.3	-	4	646	c.510C>G	c.(508-510)ttC>ttG	p.F170L	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	170					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGTTAACCAAGAAGTACATCA	0.408																																																	0													98.0	91.0	94.0					12																	14836077		2203	4300	6503	SO:0001583	missense	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.510C>G	12.37:g.14836077G>C	ENSP00000261170:p.Phe170Leu		B2RMY6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.F170L	ENST00000261170.3	37	c.510	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664780	0.47572	.	.	ENSG00000070019	ENST00000261170	D	0.82803	-1.65	5.46	2.58	0.30949	Extracellular ligand-binding receptor (1);	0.107097	0.64402	D	0.000004	T	0.79569	0.4468	L	0.52905	1.665	0.44728	D	0.997723	P	0.36249	0.545	B	0.44315	0.446	T	0.71185	-0.4667	10	0.25751	T	0.34	.	6.3929	0.21597	0.3086:0.0:0.6914:0.0	.	170	P25092	GUC2C_HUMAN	L	170	ENSP00000261170:F170L	ENSP00000261170:F170L	F	-	3	2	GUCY2C	14727344	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.229000	0.42990	0.645000	0.30675	0.655000	0.94253	TTC	GUCY2C	-	pfam_ANF_lig-bd_rcpt		0.408	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	G			14836077	-1	no_errors	ENST00000261170	ensembl	human	known	70_37	missense	SNP	1.000	C
GUSB	2990	genome.wustl.edu	37	7	65440021	65440021	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:65440021G>A	ENST00000304895.4	-	6	1080	c.950C>T	c.(949-951)tCt>tTt	p.S317F	GUSB_ENST00000421103.1_Missense_Mutation_p.S171F|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	317					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.S317F(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GTAGAAGTCAGACACAGGCCC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											88.0	82.0	84.0					7																	65440021		2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.950C>T	7.37:g.65440021G>A	ENSP00000302728:p.Ser317Phe		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.S317F	ENST00000304895.4	37	c.950	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243609	0.22796	.	.	ENSG00000169919	ENST00000304895;ENST00000421103	D;D	0.95205	-2.06;-3.64	4.99	4.12	0.48240	Glycoside hydrolase, family 2, immunoglobulin-like beta-sandwich (2);Glycoside hydrolase, family 2/20, immunoglobulin-like beta-sandwich domain (1);	0.533192	0.18402	N	0.142322	D	0.92877	0.7734	L	0.48362	1.52	0.18873	N	0.999983	D;P	0.62365	0.991;0.934	P;P	0.51657	0.668;0.676	D	0.86443	0.1768	10	0.52906	T	0.07	.	6.4401	0.21845	0.0884:0.0:0.6358:0.2758	.	171;317	E9PCV0;P08236	.;BGLR_HUMAN	F	317;171	ENSP00000302728:S317F;ENSP00000391390:S171F	ENSP00000302728:S317F	S	-	2	0	GUSB	65077456	0.000000	0.05858	0.063000	0.19743	0.015000	0.08874	0.802000	0.27069	1.330000	0.45394	-0.350000	0.07774	TCT	GUSB	-	pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like		0.577	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	G	NM_000181		65440021	-1	no_errors	ENST00000304895	ensembl	human	known	70_37	missense	SNP	0.046	A
GUSB	2990	genome.wustl.edu	37	7	65440036	65440036	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:65440036G>A	ENST00000304895.4	-	6	1065	c.935C>T	c.(934-936)tCa>tTa	p.S312L	GUSB_ENST00000421103.1_Missense_Mutation_p.S166L|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	312					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.S312L(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AGGCCCCAGTGACGTCTGTGC	0.592																																																	1	Substitution - Missense(1)	cervix(1)	GRCh37	CM960794	GUSB	M							75.0	69.0	71.0					7																	65440036		2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.935C>T	7.37:g.65440036G>A	ENSP00000302728:p.Ser312Leu		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.S312L	ENST00000304895.4	37	c.935	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747285	0.30955	.	.	ENSG00000169919	ENST00000304895;ENST00000421103	D;D	0.95238	-2.06;-3.65	4.62	-1.34	0.09143	Glycoside hydrolase, family 2, immunoglobulin-like beta-sandwich (2);Glycoside hydrolase, family 2/20, immunoglobulin-like beta-sandwich domain (1);	0.788449	0.12081	N	0.501300	D	0.87370	0.6160	L	0.42245	1.32	0.18873	N	0.999987	P;B	0.35527	0.507;0.026	B;B	0.20955	0.032;0.007	T	0.76083	-0.3089	10	0.30854	T	0.27	.	7.6416	0.28296	0.0:0.4291:0.2361:0.3348	.	166;312	E9PCV0;P08236	.;BGLR_HUMAN	L	312;166	ENSP00000302728:S312L;ENSP00000391390:S166L	ENSP00000302728:S312L	S	-	2	0	GUSB	65077471	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.204000	0.17335	-0.107000	0.12088	0.511000	0.50034	TCA	GUSB	-	pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like		0.592	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	G	NM_000181		65440036	-1	no_errors	ENST00000304895	ensembl	human	known	70_37	missense	SNP	0.001	A
HAAO	23498	genome.wustl.edu	37	2	43010491	43010491	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:43010491C>T	ENST00000294973.6	-	4	368	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase									p.E105K(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CGCCTTCGCTCAACCACCAGC	0.582																																																	1	Substitution - Missense(1)	cervix(1)											42.0	38.0	39.0					2																	43010491		2203	4300	6503	SO:0001583	missense	23498			Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.313G>A	2.37:g.43010491C>T	ENSP00000294973:p.Glu105Lys			Missense_Mutation	SNP	pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase	p.E105K	ENST00000294973.6	37	c.313	CCDS33187.1	2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778723	0.90195	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.44881	0.91;0.91	4.69	4.69	0.59074	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81167	-0.1056	10	0.87932	D	0	.	12.9987	0.58662	0.0:1.0:0.0:0.0	.	105	P46952	3HAO_HUMAN	K	105;71	ENSP00000294973:E105K;ENSP00000412601:E71K	ENSP00000294973:E105K	E	-	1	0	HAAO	42863995	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.685000	0.68204	2.457000	0.83068	0.460000	0.39030	GAG	HAAO	-	pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase		0.582	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAAO	HGNC	protein_coding	OTTHUMT00000325948.2	C			43010491	-1	no_errors	ENST00000294973	ensembl	human	known	70_37	missense	SNP	1.000	T
HABP4	22927	genome.wustl.edu	37	9	99250527	99250527	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:99250527G>C	ENST00000375249.4	+	7	1231	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	HABP4_ENST00000375251.3_Missense_Mutation_p.E281Q|HABP4_ENST00000466976.1_3'UTR	NM_014282.2	NP_055097.2			hyaluronan binding protein 4									p.E386Q(1)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CAGGAGGGCAGAGAACTATGG	0.562																																																	1	Substitution - Missense(1)	cervix(1)											135.0	137.0	136.0					9																	99250527		2203	4300	6503	SO:0001583	missense	22927			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1156G>C	9.37:g.99250527G>C	ENSP00000364398:p.Glu386Gln			Missense_Mutation	SNP	pfam_HABP4_PAIRBP1-bd	p.E386Q	ENST00000375249.4	37	c.1156	CCDS6719.1	9	.	.	.	.	.	.	.	.	.	.	g	14.12	2.441641	0.43326	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.43294	0.95;0.95	5.02	4.12	0.48240	.	0.274240	0.40385	N	0.001105	T	0.52500	0.1738	L	0.43152	1.355	0.34341	D	0.688795	D;D	0.89917	1.0;1.0	D;D	0.74023	0.977;0.982	T	0.59348	-0.7471	10	0.20046	T	0.44	-19.4177	13.7919	0.63146	0.0:0.0:0.8464:0.1536	.	281;386	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	Q	281;386	ENSP00000364400:E281Q;ENSP00000364398:E386Q	ENSP00000364398:E386Q	E	+	1	0	HABP4	98290348	1.000000	0.71417	0.933000	0.37362	0.138000	0.21146	5.636000	0.67848	1.488000	0.48433	-0.121000	0.15023	GAG	HABP4	-	NULL		0.562	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP4	HGNC	protein_coding	OTTHUMT00000053269.1	G	NM_014282		99250527	+1	no_errors	ENST00000375249	ensembl	human	known	70_37	missense	SNP	0.965	C
HACL1	26061	genome.wustl.edu	37	3	15633186	15633186	+	Splice_Site	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:15633186G>A	ENST00000321169.5	-	4	596	c.229C>T	c.(229-231)Cca>Tca	p.P77S	HACL1_ENST00000457447.2_Splice_Site_p.P77S|HACL1_ENST00000451445.2_Splice_Site_p.P77S|HACL1_ENST00000456194.2_Intron|HACL1_ENST00000435217.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	77					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)	p.P77S(1)		NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CAGACTCCTGGCCTAAAAGCA	0.403																																																	1	Substitution - Missense(1)	cervix(1)											56.0	50.0	52.0					3																	15633186		2203	4300	6503	SO:0001630	splice_region_variant	26061			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.228-1C>T	3.37:g.15633186G>A			B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth	p.P77S	ENST00000321169.5	37	c.229	CCDS2627.1	3	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388515	0.82902	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000457447	T;T;T	0.51325	1.18;1.2;0.71	5.47	5.47	0.80525	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.097832	0.64402	D	0.000001	T	0.80154	0.4571	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.86400	0.1741	10	0.62326	D	0.03	.	18.1552	0.89688	0.0:0.0:1.0:0.0	.	77;77;77	B4DXI5;E9PEN4;Q9UJ83	.;.;HACL1_HUMAN	S	77	ENSP00000323811:P77S;ENSP00000403656:P77S;ENSP00000404883:P77S	ENSP00000323811:P77S	P	-	1	0	HACL1	15608190	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.011000	0.88624	2.596000	0.87737	0.585000	0.79938	CCA	HACL1	-	pfam_Thiamin_PyroP_enz_TPP-bd_dom		0.403	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HACL1	HGNC	protein_coding	OTTHUMT00000252104.3	G	NM_012260	Missense_Mutation	15633186	-1	no_errors	ENST00000321169	ensembl	human	known	70_37	missense	SNP	1.000	A
HAS3	3038	genome.wustl.edu	37	16	69147371	69147371	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:69147371C>G	ENST00000306560.1	+	3	820	c.664C>G	c.(664-666)Cca>Gca	p.P222A	HAS3_ENST00000219322.3_Missense_Mutation_p.P222A|HAS3_ENST00000569188.1_Missense_Mutation_p.P222A	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	222					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.P222A(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGTGCTGGATCCAGCCTGCAC	0.607											OREG0023905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	cervix(2)											115.0	103.0	107.0					16																	69147371		2198	4300	6498	SO:0001583	missense	3038			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.664C>G	16.37:g.69147371C>G	ENSP00000304440:p.Pro222Ala	1112	A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.P222A	ENST00000306560.1	37	c.664	CCDS10871.1	16	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039255	0.93630	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	D;T	0.89343	-2.5;-0.3	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95439	0.8519	M	0.87456	2.885	0.80722	D	1	P;D	0.89917	0.525;1.0	B;D	0.87578	0.225;0.998	D	0.95275	0.8381	10	0.62326	D	0.03	-23.3275	19.6915	0.96002	0.0:1.0:0.0:0.0	.	222;222	O00219;O00219-2	HAS3_HUMAN;.	A	222	ENSP00000219322:P222A;ENSP00000304440:P222A	ENSP00000219322:P222A	P	+	1	0	HAS3	67704872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.836000	0.69375	2.824000	0.97209	0.655000	0.94253	CCA	HAS3	-	pfam_Chitin_synth_fng,pfam_Glyco_trans_2		0.607	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000268898.2	C	NM_138612		69147371	+1	no_errors	ENST00000306560	ensembl	human	known	70_37	missense	SNP	1.000	G
HAUS5	23354	genome.wustl.edu	37	19	36104692	36104692	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:36104692G>C	ENST00000203166.5	+	2	184	c.159G>C	c.(157-159)caG>caC	p.Q53H	HAUS5_ENST00000379045.2_Missense_Mutation_p.Q53H|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	53					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.Q53H(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TGCACAGTCAGAGGTAAGCTG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											65.0	69.0	68.0					19																	36104692		2032	4186	6218	SO:0001583	missense	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.159G>C	19.37:g.36104692G>C	ENSP00000439056:p.Gln53His		B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	NULL	p.Q53H	ENST00000203166.5	37	c.159	CCDS42550.1	19	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331499	0.60853	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.35605	1.3;1.3	4.66	2.5	0.30297	.	0.212444	0.40728	N	0.001025	T	0.33059	0.0850	M	0.68952	2.095	0.41665	D	0.9892	B	0.12630	0.006	B	0.14023	0.01	T	0.20472	-1.0274	10	0.87932	D	0	-21.2264	6.2354	0.20760	0.1013:0.188:0.7106:0.0	.	53	O94927	HAUS5_HUMAN	H	53	ENSP00000439056:Q53H;ENSP00000444373:Q53H	ENSP00000439056:Q53H	Q	+	3	2	HAUS5	40796532	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	1.203000	0.32284	0.548000	0.28955	-0.165000	0.13383	CAG	HAUS5	-	NULL		0.582	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	G			36104692	+1	no_errors	ENST00000203166	ensembl	human	known	70_37	missense	SNP	1.000	C
HAUS5	23354	genome.wustl.edu	37	19	36104782	36104782	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:36104782G>A	ENST00000203166.5	+	3	199	c.174G>A	c.(172-174)aaG>aaA	p.K58K	HAUS5_ENST00000379045.2_Silent_p.K58K|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	58					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.K58K(1)|p.K58N(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CTGTCAAGAAGATCCGGGGAA	0.542																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|breast(1)											112.0	125.0	121.0					19																	36104782		2131	4244	6375	SO:0001819	synonymous_variant	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.174G>A	19.37:g.36104782G>A			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	NULL	p.K58	ENST00000203166.5	37	c.174	CCDS42550.1	19																																																																																			HAUS5	-	NULL		0.542	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	G			36104782	+1	no_errors	ENST00000203166	ensembl	human	known	70_37	silent	SNP	1.000	A
HAVCR2	84868	genome.wustl.edu	37	5	156522409	156522409	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:156522409G>C	ENST00000307851.4	-	5	1314	c.584C>G	c.(583-585)tCt>tGt	p.S195C	HAVCR2_ENST00000522593.1_Missense_Mutation_p.S167C	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	195						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S195C(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTTGCTCCAGAGTCCCGTAA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											101.0	100.0	100.0					5																	156522409		2203	4300	6503	SO:0001583	missense	84868			AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.584C>G	5.37:g.156522409G>C	ENSP00000312002:p.Ser195Cys		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S195C	ENST00000307851.4	37	c.584	CCDS4333.1	5	.	.	.	.	.	.	.	.	.	.	G	3.336	-0.135682	0.06711	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.19394	2.15;2.46	0.0465	0.0465	0.14256	.	0.955655	0.08615	N	0.919333	T	0.25382	0.0617	L	0.40543	1.245	0.09310	N	1	P	0.46578	0.88	P	0.52481	0.7	T	0.24440	-1.0160	9	0.51188	T	0.08	-0.6049	.	.	.	.	195	Q8TDQ0	HAVR2_HUMAN	C	195;167	ENSP00000312002:S195C;ENSP00000430873:S167C	ENSP00000312002:S195C	S	-	2	0	HAVCR2	156454987	0.004000	0.15560	0.015000	0.15790	0.015000	0.08874	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	TCT	HAVCR2	-	NULL		0.453	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR2	HGNC	protein_coding	OTTHUMT00000252574.2	G			156522409	-1	no_errors	ENST00000307851	ensembl	human	known	70_37	missense	SNP	0.016	C
HDLBP	3069	genome.wustl.edu	37	2	242186507	242186507	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:242186507C>G	ENST00000391975.1	-	15	2009	c.1782G>C	c.(1780-1782)aaG>aaC	p.K594N	HDLBP_ENST00000391976.2_Missense_Mutation_p.K594N|HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000310931.4_Missense_Mutation_p.K594N|HDLBP_ENST00000427183.2_Missense_Mutation_p.K561N|AC104841.1_ENST00000578965.1_RNA	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	594	KH 7. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.K594N(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CAATGATATTCTTGTGAAACT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											123.0	108.0	113.0					2																	242186507		2203	4300	6503	SO:0001583	missense	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1782G>C	2.37:g.242186507C>G	ENSP00000375836:p.Lys594Asn		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.K594N	ENST00000391975.1	37	c.1782	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.30|16.30	3.085824|3.085824	0.55861|0.55861	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.32023	.|1.47;1.47;1.47;1.47;1.47	6.17|6.17	2.48|2.48	0.30137|0.30137	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.042294	.|0.85682	.|D	.|0.000000	T|T	0.47266|0.47266	0.1436|0.1436	M|M	0.73372|0.73372	2.23|2.23	0.80722|0.80722	D|D	1|1	.|D;P	.|0.63046	.|0.992;0.542	.|P;P	.|0.60473	.|0.875;0.533	T|T	0.32025|0.32025	-0.9922|-0.9922	5|10	.|0.32370	.|T	.|0.25	-46.6891|-46.6891	12.2945|12.2945	0.54838|0.54838	0.0:0.7932:0.0:0.2068|0.0:0.7932:0.0:0.2068	.|.	.|561;594	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	Q|N	403|594;594;594;561;103	.|ENSP00000375836:K594N;ENSP00000375837:K594N;ENSP00000312042:K594N;ENSP00000399139:K561N;ENSP00000388876:K103N	.|ENSP00000312042:K594N	E|K	-|-	1|3	0|2	HDLBP|HDLBP	241835180|241835180	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.470000|0.470000	0.32858|0.32858	1.187000|1.187000	0.32090|0.32090	0.198000|0.198000	0.20407|0.20407	-0.150000|-0.150000	0.13652|0.13652	GAA|AAG	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.413	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	C	NM_203346		242186507	-1	no_errors	ENST00000310931	ensembl	human	known	70_37	missense	SNP	1.000	G
HEATR3	55027	genome.wustl.edu	37	16	50100092	50100092	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:50100092C>T	ENST00000299192.7	+	1	241	c.50C>T	c.(49-51)aCg>aTg	p.T17M	HEATR3_ENST00000285767.4_5'UTR|RP11-429P3.3_ENST00000568130.2_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	17								p.T17M(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTCTCCCCTACGGGCGACTGT	0.697																																																	1	Substitution - Missense(1)	cervix(1)											15.0	16.0	16.0					16																	50100092		2194	4293	6487	SO:0001583	missense	55027			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.50C>T	16.37:g.50100092C>T	ENSP00000299192:p.Thr17Met		A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T17M	ENST00000299192.7	37	c.50	CCDS10739.1	16	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298955	0.60195	.	.	ENSG00000155393	ENST00000299192	T	0.50548	0.74	5.4	2.31	0.28768	.	0.378422	0.29916	N	0.010863	T	0.24851	0.0603	L	0.27053	0.805	0.24636	N	0.993596	P	0.44309	0.832	B	0.33454	0.164	T	0.12091	-1.0561	10	0.34782	T	0.22	.	5.5502	0.17086	0.1598:0.6641:0.0:0.1761	.	17	Q7Z4Q2	HEAT3_HUMAN	M	17	ENSP00000299192:T17M	ENSP00000299192:T17M	T	+	2	0	HEATR3	48657593	0.677000	0.27577	0.014000	0.15608	0.936000	0.57629	1.729000	0.38115	0.219000	0.20840	0.491000	0.48974	ACG	HEATR3	-	NULL		0.697	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR3	HGNC	protein_coding	OTTHUMT00000256880.2	C	NM_182922		50100092	+1	no_errors	ENST00000299192	ensembl	human	known	70_37	missense	SNP	0.053	T
HEATR5B	54497	genome.wustl.edu	37	2	37306395	37306395	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:37306395C>T	ENST00000233099.5	-	3	301	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R69Q	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	69						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R69Q(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TAATAATTTTCGTGTAGGTGG	0.313																																																	1	Substitution - Missense(1)	cervix(1)											110.0	106.0	107.0					2																	37306395		2201	4299	6500	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.206G>A	2.37:g.37306395C>T	ENSP00000233099:p.Arg69Gln		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R69Q	ENST00000233099.5	37	c.206	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290838	0.80914	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.72835	-0.69;-0.69	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87953	0.2725	10	0.87932	D	0	-12.7868	19.9434	0.97174	0.0:1.0:0.0:0.0	.	69	Q9P2D3	HTR5B_HUMAN	Q	69	ENSP00000233099:R69Q;ENSP00000346531:R69Q	ENSP00000233099:R69Q	R	-	2	0	HEATR5B	37159899	1.000000	0.71417	0.963000	0.40424	0.154000	0.21943	7.749000	0.85096	2.710000	0.92621	0.563000	0.77884	CGA	HEATR5B	-	superfamily_ARM-type_fold		0.313	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	C	NM_019024		37306395	-1	no_errors	ENST00000233099	ensembl	human	known	70_37	missense	SNP	0.992	T
HEG1	57493	genome.wustl.edu	37	3	124732322	124732322	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:124732322G>C	ENST00000311127.4	-	6	2168	c.2101C>G	c.(2101-2103)Cta>Gta	p.L701V	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	701	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.L701V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GACTTTAGTAGATGCACAGAG	0.468																																																	1	Substitution - Missense(1)	cervix(1)											127.0	127.0	127.0					3																	124732322		2045	4190	6235	SO:0001583	missense	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2101C>G	3.37:g.124732322G>C	ENSP00000311502:p.Leu701Val		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.L701V	ENST00000311127.4	37	c.2101	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	G	3.439	-0.114431	0.06881	.	.	ENSG00000173706	ENST00000311127	D	0.87966	-2.32	5.46	5.46	0.80206	.	1.811290	0.04169	U	0.324386	D	0.82939	0.5146	N	0.22421	0.69	0.09310	N	1	P;P	0.45827	0.867;0.791	B;B	0.41510	0.359;0.196	T	0.71925	-0.4445	10	0.25751	T	0.34	.	14.657	0.68841	0.0:0.0:1.0:0.0	.	701;701	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	V	701	ENSP00000311502:L701V	ENSP00000311502:L701V	L	-	1	2	HEG1	126215012	0.026000	0.19158	0.007000	0.13788	0.121000	0.20230	2.417000	0.44653	2.834000	0.97654	0.655000	0.94253	CTA	HEG1	-	NULL		0.468	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	G	XM_087386		124732322	-1	no_errors	ENST00000311127	ensembl	human	known	70_37	missense	SNP	0.011	C
HELQ	113510	genome.wustl.edu	37	4	84368045	84368045	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:84368045C>T	ENST00000295488.3	-	4	1497	c.1335G>A	c.(1333-1335)gtG>gtA	p.V445V	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	445	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.V445V(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TCAAGGAGTTCACCAAGCTAT	0.348								Other identified genes with known or suspected DNA repair function																																									1	Substitution - coding silent(1)	cervix(1)											139.0	134.0	136.0					4																	84368045		2203	4300	6503	SO:0001819	synonymous_variant	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1335G>A	4.37:g.84368045C>T			Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V445	ENST00000295488.3	37	c.1335	CCDS3603.1	4																																																																																			HELQ	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.348	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	C	NM_133636		84368045	-1	no_errors	ENST00000295488	ensembl	human	known	70_37	silent	SNP	1.000	T
HELZ2	85441	genome.wustl.edu	37	20	62198468	62198468	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:62198468G>A	ENST00000467148.1	-	6	2312	c.2243C>T	c.(2242-2244)gCc>gTc	p.A748V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A179V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	748	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A748V(1)									GCTGACAATGGCGTCCGTGCA	0.657																																																	1	Substitution - Missense(1)	cervix(1)											66.0	63.0	64.0					20																	62198468		2202	4299	6501	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2243C>T	20.37:g.62198468G>A	ENSP00000417401:p.Ala748Val		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.A748V	ENST00000467148.1	37	c.2243	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915104	0.52546	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.82711	-1.64;-1.64	5.08	4.06	0.47325	.	0.653207	0.16215	N	0.224310	D	0.86506	0.5949	L	0.56124	1.755	0.36583	D	0.873685	D;B	0.61697	0.99;0.101	P;B	0.62491	0.903;0.131	D	0.86028	0.1511	10	0.30854	T	0.27	-31.4778	12.6028	0.56506	0.0:0.3748:0.6252:0.0	.	748;179	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	179;748	ENSP00000393257:A179V;ENSP00000417401:A748V	ENSP00000393257:A179V	A	-	2	0	RP4-697K14.7	61668912	1.000000	0.71417	0.427000	0.26684	0.009000	0.06853	3.216000	0.51176	2.385000	0.81259	0.561000	0.74099	GCC	HELZ2	-	NULL		0.657	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62198468	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	1.000	A
HIRA	7290	genome.wustl.edu	37	22	19349384	19349384	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:19349384C>G	ENST00000263208.5	-	16	2102	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Missense_Mutation_p.E572Q|HIRA_ENST00000546308.1_Missense_Mutation_p.E572Q	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	616	Interaction with CCNA1.|Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|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)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E616Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GGGACTTTCTCATCGCTGTCA	0.502																																																	1	Substitution - Missense(1)	cervix(1)											146.0	141.0	143.0					22																	19349384		2203	4300	6503	SO:0001583	missense	7290			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1846G>C	22.37:g.19349384C>G	ENSP00000263208:p.Glu616Gln		Q05BU9|Q8IXN2	Missense_Mutation	SNP	pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E616Q	ENST00000263208.5	37	c.1846	CCDS13759.1	22	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324610	0.81580	.	.	ENSG00000100084	ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T	0.72835	-0.69;-0.53;-0.5	5.3	5.3	0.74995	.	0.105732	0.64402	D	0.000005	T	0.68302	0.2986	N	0.24115	0.695	0.80722	D	1	D;P	0.53619	0.961;0.935	P;P	0.52159	0.691;0.575	T	0.68254	-0.5457	10	0.39692	T	0.17	-17.2745	17.3079	0.87200	0.0:1.0:0.0:0.0	.	572;616	F5H4M2;P54198	.;HIRA_HUMAN	Q	616;572;125;572	ENSP00000263208:E616Q;ENSP00000446073:E572Q;ENSP00000441870:E572Q	ENSP00000263208:E616Q	E	-	1	0	HIRA	17729384	1.000000	0.71417	0.934000	0.37439	0.846000	0.48090	6.272000	0.72575	2.755000	0.94549	0.555000	0.69702	GAG	HIRA	-	NULL		0.502	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	C	NM_003325		19349384	-1	no_errors	ENST00000263208	ensembl	human	known	70_37	missense	SNP	1.000	G
HIST1H1A	3024	genome.wustl.edu	37	6	26017517	26017517	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:26017517C>G	ENST00000244573.3	-	1	523	c.444G>C	c.(442-444)aaG>aaC	p.K148N		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	148					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)	p.K148N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TCTTGACGCTCTTTTTGCTAG	0.483																																																	1	Substitution - Missense(1)	cervix(1)											141.0	150.0	147.0					6																	26017517		2203	4300	6503	SO:0001583	missense	3024			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.444G>C	6.37:g.26017517C>G	ENSP00000244573:p.Lys148Asn		Q3MJ34	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K148N	ENST00000244573.3	37	c.444	CCDS4569.1	6	.	.	.	.	.	.	.	.	.	.	N	6.500	0.460520	0.12342	.	.	ENSG00000124610	ENST00000244573	T	0.14516	2.5	4.31	-1.34	0.09143	.	0.480369	0.19100	N	0.122740	T	0.03871	0.0109	L	0.34521	1.04	0.09310	N	1	P	0.46706	0.883	B	0.41860	0.368	T	0.35847	-0.9772	10	0.59425	D	0.04	-8.0238	9.8946	0.41311	0.0:0.6363:0.0:0.3637	.	148	Q02539	H11_HUMAN	N	148	ENSP00000244573:K148N	ENSP00000244573:K148N	K	-	3	2	HIST1H1A	26125496	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.567000	0.05916	-0.158000	0.11040	-0.192000	0.12808	AAG	HIST1H1A	-	NULL		0.483	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1A	HGNC	protein_coding	OTTHUMT00000043884.1	C	NM_005325		26017517	-1	no_errors	ENST00000244573	ensembl	human	known	70_37	missense	SNP	0.024	G
HIST1H4E	8367	genome.wustl.edu	37	6	26204984	26204984	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:26204984C>G	ENST00000360441.4	+	1	127	c.112C>G	c.(112-114)Ctt>Gtt	p.L38V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	38					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CATCCGGCGCCTTGCTCGTCG	0.572																																																	0													86.0	85.0	85.0					6																	26204984		2203	4300	6503	SO:0001583	missense	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.112C>G	6.37:g.26204984C>G	ENSP00000353624:p.Leu38Val		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L38V	ENST00000360441.4	37	c.112	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	13.71	2.317666	0.40996	.	.	ENSG00000198518	ENST00000360441	T	0.64803	-0.12	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000018	T	0.63988	0.2558	.	.	.	0.53688	D	0.999977	.	.	.	.	.	.	T	0.70389	-0.4885	7	0.72032	D	0.01	.	12.403	0.55424	0.0:1.0:0.0:0.0	.	.	.	.	V	38	ENSP00000353624:L38V	ENSP00000353624:L38V	L	+	1	0	HIST1H4E	26312963	0.432000	0.25554	0.711000	0.30485	0.013000	0.08279	1.066000	0.30604	1.521000	0.48983	0.655000	0.94253	CTT	HIST1H4E	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4		0.572	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	C	NM_003545		26204984	+1	no_errors	ENST00000360441	ensembl	human	known	70_37	missense	SNP	1.000	G
HIST1H4F	8361	genome.wustl.edu	37	6	26240864	26240864	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:26240864G>A	ENST00000377745.2	+	1	304	c.211G>A	c.(211-213)Gta>Ata	p.V71I		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	71				V -> A (in Ref. 14; AAH67496). {ECO:0000305}.	CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V71I(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACGGGACGCCGTAACCTACAC	0.582																																																	1	Substitution - Missense(1)	cervix(1)											93.0	78.0	83.0					6																	26240864		2203	4300	6503	SO:0001583	missense	8361			M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"""Histones / Replication-dependent"""	4783	protein-coding gene	gene with protein product		602824	"""H4 histone family, member C"", ""histone 1, H4f"""	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.211G>A	6.37:g.26240864G>A	ENSP00000366974:p.Val71Ile		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.V71I	ENST00000377745.2	37	c.211	CCDS4598.1	6	.	.	.	.	.	.	.	.	.	.	.	18.01	3.527847	0.64860	.	.	ENSG00000198327	ENST00000377745	T	0.68903	-0.36	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	.	.	.	0.41798	D	0.989907	.	.	.	.	.	.	T	0.74630	-0.3601	7	0.51188	T	0.08	.	16.4132	0.83726	0.0:0.0:1.0:0.0	.	.	.	.	I	71	ENSP00000366974:V71I	ENSP00000366974:V71I	V	+	1	0	HIST1H4F	26348843	1.000000	0.71417	0.969000	0.41365	0.020000	0.10135	9.222000	0.95196	2.430000	0.82344	0.563000	0.77884	GTA	HIST1H4F	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4		0.582	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4F	HGNC	protein_coding	OTTHUMT00000040106.1	G	NM_003540		26240864	+1	no_errors	ENST00000377745	ensembl	human	known	70_37	missense	SNP	1.000	A
HIST1H2BI	8346	genome.wustl.edu	37	6	26273432	26273432	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:26273432G>A	ENST00000377733.2	+	1	289	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	77					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77Q(2)|p.E77K(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CATTGCAGGCGAGGCTTCCCG	0.587																																																	4	Substitution - Missense(4)	endometrium(2)|urinary_tract(1)|cervix(1)											127.0	124.0	125.0					6																	26273432		2203	4300	6503	SO:0001583	missense	8346			Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.229G>A	6.37:g.26273432G>A	ENSP00000366962:p.Glu77Lys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E77K	ENST00000377733.2	37	c.229	CCDS4603.1	6	.	.	.	.	.	.	.	.	.	.	.	18.04	3.534816	0.64972	.	.	ENSG00000168242	ENST00000377733	T	0.34472	1.36	4.5	4.5	0.54988	.	.	.	.	.	T	0.62258	0.2413	H	0.95780	3.72	0.32958	D	0.52067	.	.	.	.	.	.	T	0.74244	-0.3728	7	0.54805	T	0.06	.	15.8093	0.78543	0.0:0.0:1.0:0.0	.	.	.	.	K	77	ENSP00000366962:E77K	ENSP00000366962:E77K	E	+	1	0	HIST1H2BI	26381411	1.000000	0.71417	0.999000	0.59377	0.033000	0.12548	7.542000	0.82095	2.058000	0.61347	0.563000	0.77884	GAG	HIST1H2BI	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.587	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BI	HGNC	protein_coding	OTTHUMT00000040111.1	G	NM_003525		26273432	+1	no_errors	ENST00000377733	ensembl	human	known	70_37	missense	SNP	1.000	A
HIST2H2AB	317772	genome.wustl.edu	37	1	149859223	149859223	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:149859223G>C	ENST00000331128.3	-	1	243	c.244C>G	c.(244-246)Cgc>Ggc	p.R82G	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	82						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R82G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGCAGATGGCGAGGGATGATG	0.612																																																	1	Substitution - Missense(1)	cervix(1)											95.0	88.0	91.0					1																	149859223		2203	4300	6503	SO:0001583	missense	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.244C>G	1.37:g.149859223G>C	ENSP00000332790:p.Arg82Gly			Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R82G	ENST00000331128.3	37	c.244	CCDS938.1	1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049188	0.55110	.	.	ENSG00000184270	ENST00000331128	T	0.71934	-0.61	4.49	4.49	0.54785	Histone-fold (2);Histone core (1);Histone H2A (2);	0.100753	0.43919	D	0.000501	D	0.89413	0.6708	H	0.98754	4.32	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.93091	0.6500	10	0.87932	D	0	.	15.0634	0.71973	0.0:0.0:1.0:0.0	.	82	Q8IUE6	H2A2B_HUMAN	G	82	ENSP00000332790:R82G	ENSP00000332790:R82G	R	-	1	0	HIST2H2AB	148125847	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.709000	0.61867	2.480000	0.83734	0.561000	0.74099	CGC	HIST2H2AB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.612	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AB	HGNC	protein_coding	OTTHUMT00000033440.1	G	NM_175065		149859223	-1	no_errors	ENST00000331128	ensembl	human	known	70_37	missense	SNP	1.000	C
HIVEP1	3096	genome.wustl.edu	37	6	12125327	12125327	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:12125327G>C	ENST00000379388.2	+	4	5631	c.5299G>C	c.(5299-5301)Gat>Cat	p.D1767H	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1767					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D1767H(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCGGGCCAAAGATGAAAATGG	0.428																																																	1	Substitution - Missense(1)	cervix(1)											98.0	97.0	98.0					6																	12125327		1869	4111	5980	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5299G>C	6.37:g.12125327G>C	ENSP00000368698:p.Asp1767His		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1767H	ENST00000379388.2	37	c.5299	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795512	0.90453	.	.	ENSG00000095951	ENST00000379388	T	0.14266	2.52	5.62	5.62	0.85841	.	0.000000	0.34178	N	0.004198	T	0.34745	0.0908	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06679	-1.0813	9	.	.	.	-20.7234	19.6536	0.95828	0.0:0.0:1.0:0.0	.	1767	P15822	ZEP1_HUMAN	H	1767	ENSP00000368698:D1767H	.	D	+	1	0	HIVEP1	12233313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	GAT	HIVEP1	-	NULL		0.428	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12125327	+1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	1.000	C
HJURP	55355	genome.wustl.edu	37	2	234763116	234763116	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:234763116C>G	ENST00000411486.2	-	1	96	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	HJURP_ENST00000441687.1_Missense_Mutation_p.E11Q|HJURP_ENST00000432087.1_Missense_Mutation_p.E11Q	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	11					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.E11Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCCACGTCCTCGCCCTCCATG	0.672											OREG0003841	type=REGULATORY REGION|Gene=AK074809|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - Missense(1)	cervix(1)											21.0	24.0	23.0					2																	234763116		2202	4299	6501	SO:0001583	missense	55355				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.31G>C	2.37:g.234763116C>G	ENSP00000414109:p.Glu11Gln	2376	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.E11Q	ENST00000411486.2	37	c.31	CCDS33406.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.89|13.89	2.373245|2.373245	0.42105|0.42105	.|.	.|.	ENSG00000123485|ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924|ENST00000454020	T;T;T;T|T	0.10960|0.37058	3.11;3.13;3.13;2.82|1.22	3.68|3.68	-3.05|-3.05	0.05396|0.05396	.|.	1.942790|.	0.02613|.	N|.	0.102358|.	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B;B|.	0.31040|.	0.262;0.209;0.305|.	B;B;B|.	0.21360|.	0.025;0.034;0.026|.	T|T	0.34576|0.34576	-0.9823|-0.9823	10|7	0.39692|0.87932	T|D	0.17|0	-0.8594|-0.8594	7.1428|7.1428	0.25566|0.25566	0.0:0.1836:0.5432:0.2732|0.0:0.1836:0.5432:0.2732	.|.	11;11;11|.	Q8NCD3-3;Q8NCD3-2;Q8NCD3|.	.;.;HJURP_HUMAN|.	Q|P	11|2	ENSP00000414109:E11Q;ENSP00000407208:E11Q;ENSP00000401944:E11Q;ENSP00000393253:E11Q|ENSP00000414051:R2P	ENSP00000414109:E11Q|ENSP00000414051:R2P	E|R	-|-	1|2	0|0	HJURP|HJURP	234427855|234427855	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.397000|-0.397000	0.07269|0.07269	-0.705000|-0.705000	0.05035|0.05035	-0.229000|-0.229000	0.12294|0.12294	GAG|CGA	HJURP	-	NULL		0.672	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	HGNC	protein_coding	OTTHUMT00000130996.6	C	NM_018410		234763116	-1	no_errors	ENST00000411486	ensembl	human	known	70_37	missense	SNP	0.000	G
HLA-A	3105	genome.wustl.edu	37	6	29910587	29910587	+	Nonsense_Mutation	SNP	G	G	T	rs41549014	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:29910587G>T	ENST00000396634.1	+	4	468	c.127G>T	c.(127-129)Gag>Tag	p.E43*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E43*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E43*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	43	Alpha-1.				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)	p.E43*(1)|p.R41fs*31(1)		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						CGGCCGCGGGGAGCCCCGCTT	0.706									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)																																							2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	cervix(1)|ovary(1)											23.0	22.0	22.0					6																	29910587		2198	4294	6492	SO:0001587	stop_gained	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.127G>T	6.37:g.29910587G>T	ENSP00000379873:p.Glu43*		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	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.E43*	ENST00000396634.1	37	c.127	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	38	6.774052	0.97829	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	0.575	0.17374	.	2.237780	0.03383	U	0.200671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.3062	0.07001	0.2361:0.0:0.5616:0.2024	.	.	.	.	X	43	.	ENSP00000348012:E43X	E	+	1	0	HLA-A	30018566	0.008000	0.16893	0.000000	0.03702	0.452000	0.32318	0.240000	0.18042	0.004000	0.14682	0.478000	0.44815	GAG	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.706	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29910587	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.000	T
HLA-DMB	3109	genome.wustl.edu	37	6	32905079	32905079	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:32905079C>G	ENST00000418107.2	-	3	754	c.492G>C	c.(490-492)aaG>aaC	p.K164N	AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.K164N	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	164	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)	p.K164N(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GCTGGGCAGTCTTGTGCGCAC	0.547																																																	2	Substitution - Missense(2)	cervix(2)											176.0	130.0	146.0					6																	32905079		2203	4300	6503	SO:0001583	missense	3109				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.492G>C	6.37:g.32905079C>G	ENSP00000398890:p.Lys164Asn		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.K164N	ENST00000418107.2	37	c.492	CCDS4760.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.754|6.754	0.507937|0.507937	0.12883|0.12883	.|.	.|.	ENSG00000242574|ENSG00000242574	ENST00000414017|ENST00000438510;ENST00000446948;ENST00000418107;ENST00000416244	.|T;T;T	.|0.02916	.|4.11;4.11;4.11	4.56|4.56	0.49|0.49	0.16861|0.16861	.|Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.|2.114420	.|0.01818	.|N	.|0.033878	T|T	0.00784|0.00784	0.0026|0.0026	N|N	0.17564|0.17564	0.495|0.495	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.32862	.|0.054;0.387;0.005;0.062;0.387	.|B;B;B;B;B	.|0.31547	.|0.013;0.132;0.02;0.049;0.132	T|T	0.44757|0.44757	-0.9307|-0.9307	5|10	.|0.62326	.|D	.|0.03	.|.	5.4244|5.4244	0.16417|0.16417	0.527:0.3747:0.0:0.0983|0.527:0.3747:0.0:0.0983	.|.	.|164;164;46;53;164	.|E9PD01;A2AAT3;B0V061;B0V062;P28068	.|.;.;.;.;DMB_HUMAN	H|N	54|46;164;164;164	.|ENSP00000390848:K46N;ENSP00000398890:K164N;ENSP00000391010:K164N	.|ENSP00000391010:K164N	D|K	-|-	1|3	0|2	HLA-DMB|HLA-DMB	33013057|33013057	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.239000|0.239000	0.25481|0.25481	0.140000|0.140000	0.16056|0.16056	0.194000|0.194000	0.20326|0.20326	0.494000|0.494000	0.49563|0.49563	GAC|AAG	HLA-DMB	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like		0.547	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2	C	NM_002118		32905079	-1	no_errors	ENST00000418107	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNRD1-AS1	80862	genome.wustl.edu	37	6	29974424	29974424	+	RNA	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:29974424G>A	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		CGGGGACCCTGGCCCTGGCCG	0.711																																																	0																																												3137			AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29974424G>A				RNA	SNP	-	NULL	ENST00000376797.3	37	NULL		6																																																																																			HLA-J	-	-		0.711	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	HLA-J	HGNC	antisense	OTTHUMT00000253083.1	G	NR_026751		29974424	+1	no_errors	ENST00000462773	ensembl	human	known	70_37	rna	SNP	0.432	A
HLA-DPB1	3115	genome.wustl.edu	37	6	33054002	33054002	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:33054002G>C	ENST00000418931.2	+	5	880	c.764G>C	c.(763-765)cGa>cCa	p.R255P		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	255					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|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)	peptide antigen binding (GO:0042605)	p.R255P(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TCAGTTCAACGAGGATCTGCA	0.418																																																	1	Substitution - Missense(1)	cervix(1)											180.0	193.0	189.0					6																	33054002		2203	4300	6503	SO:0001583	missense	3115				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.764G>C	6.37:g.33054002G>C	ENSP00000408146:p.Arg255Pro		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	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.R255P	ENST00000418931.2	37	c.764	CCDS4765.1	6	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362124	0.41902	.	.	ENSG00000223865	ENST00000418931;ENST00000411942	T	0.00642	6.02	2.85	-3.15	0.05233	.	0.893166	0.08576	U	0.925351	T	0.00210	0.0006	N	0.14661	0.345	0.09310	N	1	P	0.51057	0.941	P	0.49252	0.604	T	0.46247	-0.9205	10	0.66056	D	0.02	.	0.6619	0.00844	0.3889:0.1699:0.2692:0.1719	.	255	P04440	DPB1_HUMAN	P	255;225	ENSP00000408146:R255P	ENSP00000389210:R225P	R	+	2	0	HLA-DPB1	33161980	0.000000	0.05858	0.000000	0.03702	0.713000	0.41058	-0.663000	0.05299	-0.829000	0.04268	0.573000	0.79308	CGA	HLA-DPB1	-	NULL		0.418	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DPB1	HGNC	protein_coding	OTTHUMT00000076106.2	G	NM_002121		33054002	+1	no_errors	ENST00000418931	ensembl	human	known	70_37	missense	SNP	0.000	C
HMBOX1	79618	genome.wustl.edu	37	8	28876293	28876293	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:28876293G>A	ENST00000397358.3	+	7	1418	c.714G>A	c.(712-714)atG>atA	p.M238I	HMBOX1_ENST00000519047.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000523613.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000524238.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000355231.5_Missense_Mutation_p.M238I|HMBOX1_ENST00000444075.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000558662.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000287701.10_Missense_Mutation_p.M238I|HMBOX1_ENST00000403668.2_Missense_Mutation_p.M238I	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	238					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M238I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CACTAAGTATGAGACCAGCCC	0.453																																																	1	Substitution - Missense(1)	cervix(1)											110.0	108.0	109.0					8																	28876293		2203	4300	6503	SO:0001583	missense	79618			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.714G>A	8.37:g.28876293G>A	ENSP00000380516:p.Met238Ile		A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.M238I	ENST00000397358.3	37	c.714	CCDS6071.1	8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094828	0.76870	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	D;D;D;D;D;D	0.99867	-7.31;-7.31;-6.3;-7.29;-7.31;-7.31	5.9	5.9	0.94986	Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	N	0.19112	0.55	0.53688	D	0.999979	P;P;P;P;P;P	0.51933	0.949;0.915;0.949;0.885;0.525;0.915	P;B;B;P;B;B	0.48189	0.57;0.217;0.389;0.57;0.38;0.217	D	0.99470	1.0945	10	0.32370	T	0.25	-9.3242	20.3268	0.98702	0.0:0.0:1.0:0.0	.	238;238;238;238;238;238	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	I	238	ENSP00000287701:M238I;ENSP00000401769:M238I;ENSP00000384261:M238I;ENSP00000430059:M238I;ENSP00000380516:M238I;ENSP00000430110:M238I	ENSP00000287701:M238I	M	+	3	0	HMBOX1	28932212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.385000	0.97223	2.794000	0.96219	0.650000	0.86243	ATG	HMBOX1	-	superfamily_Lambda_DNA-bd_dom		0.453	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HMBOX1	HGNC	protein_coding	OTTHUMT00000255267.4	G	NM_024567		28876293	+1	no_errors	ENST00000444075	ensembl	human	known	70_37	missense	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	185984542	185984542	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:185984542G>A	ENST00000271588.4	+	31	5111	c.4882G>A	c.(4882-4884)Gaa>Aaa	p.E1628K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1628K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1628	Ig-like C2-type 13.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E1628K(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAACTGCTGAAAAATCATT	0.348																																																	1	Substitution - Missense(1)	cervix(1)											106.0	107.0	107.0					1																	185984542		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4882G>A	1.37:g.185984542G>A	ENSP00000271588:p.Glu1628Lys		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.E1628K	ENST00000271588.4	37	c.4882	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401150	0.83120	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68903	-0.36;-0.36	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	L	0.43152	1.355	0.58432	D	0.999996	D	0.69078	0.997	D	0.80764	0.994	T	0.70876	-0.4753	10	0.25106	T	0.35	.	19.7622	0.96325	0.0:0.0:1.0:0.0	.	1628	Q96RW7	HMCN1_HUMAN	K	1628	ENSP00000271588:E1628K;ENSP00000356462:E1628K	ENSP00000271588:E1628K	E	+	1	0	HMCN1	184251165	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.751000	0.68720	2.732000	0.93576	0.650000	0.86243	GAA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		185984542	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	A
HMG20B	10362	genome.wustl.edu	37	19	3576258	3576258	+	Splice_Site	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:3576258G>C	ENST00000333651.6	+	6	547		c.e6-1		MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B						blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCCGCCAGAAGACTCGAG	0.627																																																	1	Unknown(1)	cervix(1)											56.0	63.0	60.0					19																	3576258		2056	4171	6227	SO:0001630	splice_region_variant	10362			BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"""High mobility group / Non-canonical"""	5002	protein-coding gene	gene with protein product	"""HMG box domain containing 2"""	605535	"""high-mobility group 20B"""			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.473-1G>C	19.37:g.3576258G>C			A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Splice_Site	SNP	-	e5-1	ENST00000333651.6	37	c.473-1	CCDS45919.1	19	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330432	0.24167	.	.	ENSG00000064961	ENST00000416526;ENST00000333651;ENST00000262949	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7244	0.62750	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMG20B	3527258	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	5.193000	0.65120	2.006000	0.58801	0.561000	0.74099	.	HMG20B	-	-		0.627	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20B	HGNC	protein_coding	OTTHUMT00000318088.1	G	NM_006339	Intron	3576258	+1	no_errors	ENST00000333651	ensembl	human	known	70_37	splice_site	SNP	1.000	C
HMGCS1	3157	genome.wustl.edu	37	5	43294235	43294235	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:43294235C>G	ENST00000325110.6	-	8	1312	c.1106G>C	c.(1105-1107)aGa>aCa	p.R369T	HMGCS1_ENST00000433297.2_Missense_Mutation_p.R369T	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	369					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)	p.R369T(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CACTCCAATTCTCTTCCCTGC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											152.0	130.0	137.0					5																	43294235		2203	4300	6503	SO:0001583	missense	3157				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.1106G>C	5.37:g.43294235C>G	ENSP00000322706:p.Arg369Thr		B2RDL8	Missense_Mutation	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.R369T	ENST00000325110.6	37	c.1106	CCDS34154.1	5	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633126	0.87660	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	T;T	0.79940	-1.32;-1.32	5.58	3.8	0.43715	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.038503	0.85682	D	0.000000	D	0.88829	0.6543	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88434	0.3037	10	0.54805	T	0.06	-16.3316	12.1174	0.53873	0.0:0.8611:0.0:0.1389	.	369	Q01581	HMCS1_HUMAN	T	369;369;358	ENSP00000322706:R369T;ENSP00000399402:R369T	ENSP00000322706:R369T	R	-	2	0	HMGCS1	43329992	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	5.580000	0.67464	0.727000	0.32360	0.655000	0.94253	AGA	HMGCS1	-	pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk		0.423	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS1	HGNC	protein_coding	OTTHUMT00000368022.1	C			43294235	-1	no_errors	ENST00000325110	ensembl	human	known	70_37	missense	SNP	1.000	G
HMMR	3161	genome.wustl.edu	37	5	162902673	162902673	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:162902673G>A	ENST00000358715.3	+	11	1296	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	HMMR_ENST00000393915.4_Silent_p.L421L|HMMR_ENST00000353866.3_Silent_p.L405L|HMMR_ENST00000432118.2_Silent_p.L334L			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	420					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)	p.L420L(1)		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)	AAGAAAAGCTGAAAGGGTTTG	0.343																																																	1	Substitution - coding silent(1)	cervix(1)											47.0	53.0	51.0					5																	162902673		2199	4300	6499	SO:0001819	synonymous_variant	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.1260G>A	5.37:g.162902673G>A			A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	NULL	p.L421	ENST00000358715.3	37	c.1263	CCDS4362.1	5																																																																																			HMMR	-	NULL		0.343	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	G	NM_012484		162902673	+1	no_errors	ENST00000393915	ensembl	human	known	70_37	silent	SNP	0.091	A
HMOX1	3162	genome.wustl.edu	37	22	35782729	35782729	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:35782729G>C	ENST00000216117.8	+	3	535	c.196G>C	c.(196-198)Gag>Cag	p.E66Q		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	66					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.E66Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GGAGGAGATTGAGCGCAACAA	0.617																																																	1	Substitution - Missense(1)	cervix(1)											52.0	52.0	52.0					22																	35782729		2203	4300	6503	SO:0001583	missense	3162				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.196G>C	22.37:g.35782729G>C	ENSP00000216117:p.Glu66Gln			Missense_Mutation	SNP	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase	p.E66Q	ENST00000216117.8	37	c.196	CCDS13914.1	22	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824334	0.50739	.	.	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.23754	1.89;1.89	5.8	4.79	0.61399	Haem oxygenase-like, multi-helical (2);	0.204155	0.51477	D	0.000081	T	0.44993	0.1320	M	0.63208	1.945	0.48830	D	0.999716	D	0.76494	0.999	D	0.68483	0.958	T	0.41538	-0.9503	10	0.66056	D	0.02	-32.768	10.9503	0.47325	0.1423:0.0:0.8577:0.0	.	66	P09601	HMOX1_HUMAN	Q	66	ENSP00000413316:E66Q;ENSP00000216117:E66Q	ENSP00000216117:E66Q	E	+	1	0	HMOX1	34112729	1.000000	0.71417	0.789000	0.31954	0.098000	0.18820	7.944000	0.87722	1.476000	0.48215	-0.136000	0.14681	GAG	HMOX1	-	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase		0.617	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX1	HGNC	protein_coding	OTTHUMT00000320657.1	G			35782729	+1	no_errors	ENST00000216117	ensembl	human	known	70_37	missense	SNP	0.998	C
HNRNPA1L2	144983	genome.wustl.edu	37	13	53216872	53216872	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:53216872G>A	ENST00000357495.2	+	1	305	c.245G>A	c.(244-246)aGa>aAa	p.R82K	HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.R82K|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R82K			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	82	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R82K(1)		cervix(1)|large_intestine(1)|lung(5)	7						GTGGATGGAAGAGTTGTGGAA	0.478																																																	1	Substitution - Missense(1)	cervix(1)											35.0	36.0	35.0					13																	53216872		1990	3803	5793	SO:0001583	missense	144983				CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.245G>A	13.37:g.53216872G>A	ENSP00000350090:p.Arg82Lys		Q5TBS2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.R82K	ENST00000357495.2	37	c.245	CCDS31980.1	13	.	.	.	.	.	.	.	.	.	.	g	17.13	3.309679	0.60414	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	D;D;D	0.92048	-2.96;-2.96;-2.96	0.352	0.352	0.16051	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.128510	0.28072	U	0.016713	T	0.81931	0.4927	N	0.10733	0.035	0.29845	N	0.828887	B	0.31290	0.318	B	0.39617	0.305	T	0.75196	-0.3403	10	0.31617	T	0.26	.	6.5752	0.22562	2.0E-4:0.0:0.9998:0.0	.	82	Q32P51	RA1L2_HUMAN	K	82	ENSP00000341285:R82K;ENSP00000381119:R82K;ENSP00000350090:R82K	ENSP00000341285:R82K	R	+	2	0	HNRNPA1L2	52114873	0.993000	0.37304	0.973000	0.42090	0.122000	0.20287	6.482000	0.73613	0.455000	0.26910	0.089000	0.15464	AGA	HNRNPA1L2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.478	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA1L2	HGNC	protein_coding	OTTHUMT00000045098.1	G	NM_001011724		53216872	+1	no_errors	ENST00000342657	ensembl	human	known	70_37	missense	SNP	1.000	A
HORMAD1	84072	genome.wustl.edu	37	1	150671183	150671183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:150671183G>A	ENST00000361824.2	-	15	1237	c.1132C>T	c.(1132-1134)Caa>Taa	p.Q378*	HORMAD1_ENST00000368995.4_Nonsense_Mutation_p.Q298*|GOLPH3L_ENST00000540514.1_5'Flank|HORMAD1_ENST00000322343.7_Nonsense_Mutation_p.Q371*|GOLPH3L_ENST00000479757.1_5'Flank|GOLPH3L_ENST00000271732.3_5'Flank|HORMAD1_ENST00000368993.2_Nonsense_Mutation_p.Q378*	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	378					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.Q378*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGACTCTTGACTAGAAGAA	0.323																																																	1	Substitution - Nonsense(1)	cervix(1)											79.0	82.0	81.0					1																	150671183		2203	4299	6502	SO:0001587	stop_gained	84072			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1132C>T	1.37:g.150671183G>A	ENSP00000355167:p.Gln378*		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Nonsense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.Q378*	ENST00000361824.2	37	c.1132	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820824	0.71028	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	.	.	.	4.98	4.03	0.46877	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-12.3857	13.455	0.61193	0.0:0.0:0.843:0.157	.	.	.	.	X	298;378;307;298;371;378	.	ENSP00000326489:Q371X	Q	-	1	0	HORMAD1	148937807	1.000000	0.71417	0.989000	0.46669	0.836000	0.47400	3.480000	0.53172	2.289000	0.77006	0.455000	0.32223	CAA	HORMAD1	-	NULL		0.323	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	G	NM_032132		150671183	-1	no_errors	ENST00000361824	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HOXA2	3199	genome.wustl.edu	37	7	27140514	27140514	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:27140514G>C	ENST00000222718.5	-	2	1272	c.962C>G	c.(961-963)tCt>tGt	p.S321C	HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	321					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)	p.S321C(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GTCCTGCAAAGAGGGGACCTC	0.527																																																	1	Substitution - Missense(1)	cervix(1)											79.0	78.0	78.0					7																	27140514		2203	4300	6503	SO:0001583	missense	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.962C>G	7.37:g.27140514G>C	ENSP00000222718:p.Ser321Cys		A1L4K3|B2RMW3	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S321C	ENST00000222718.5	37	c.962	CCDS5403.1	7	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883882	0.51908	.	.	ENSG00000105996	ENST00000222718	T	0.11063	2.81	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000003	T	0.37489	0.1005	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.28202	-1.0051	10	0.45353	T	0.12	.	18.0474	0.89337	0.0:0.0:1.0:0.0	.	321	O43364	HXA2_HUMAN	C	321	ENSP00000222718:S321C	ENSP00000222718:S321C	S	-	2	0	HOXA2	27107039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.386000	0.97228	2.415000	0.81967	0.655000	0.94253	TCT	HOXA2	-	NULL		0.527	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA2	HGNC	protein_coding	OTTHUMT00000358508.2	G			27140514	-1	no_errors	ENST00000222718	ensembl	human	known	70_37	missense	SNP	1.000	C
HPGDS	27306	genome.wustl.edu	37	4	95223384	95223384	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:95223384G>A	ENST00000295256.5	-	5	438	c.348C>T	c.(346-348)ttC>ttT	p.F116F	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	116	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)	p.F116F(1)		breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	GCAGCTCATTGAACATCTGCT	0.383																																					Colon(86;1802 1843 17863 46794)												1	Substitution - coding silent(1)	cervix(1)											125.0	126.0	125.0					4																	95223384		2203	4300	6503	SO:0001819	synonymous_variant	27306			D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.348C>T	4.37:g.95223384G>A			Q6FHT9	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.F116	ENST00000295256.5	37	c.348	CCDS3640.1	4																																																																																			HPGDS	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.383	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGDS	HGNC	protein_coding	OTTHUMT00000253587.1	G	NM_014485		95223384	-1	no_errors	ENST00000295256	ensembl	human	known	70_37	silent	SNP	0.387	A
HRH2	3274	genome.wustl.edu	37	5	175111023	175111023	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:175111023G>A	ENST00000231683.2	+	1	2560	c.787G>A	c.(787-789)Gat>Aat	p.D263N	HRH2_ENST00000377291.2_Missense_Mutation_p.D263N	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	263					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.D263N(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GAGAGGGGATGATGCCATCAA	0.567																																																	1	Substitution - Missense(1)	cervix(1)											137.0	111.0	120.0					5																	175111023		2203	4300	6503	SO:0001583	missense	3274				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.787G>A	5.37:g.175111023G>A	ENSP00000231683:p.Asp263Asn		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_recept,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.D263N	ENST00000231683.2	37	c.787	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	G	8.665	0.901564	0.17760	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.70986	-0.53;-0.53	4.13	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.776405	0.12297	N	0.481518	T	0.44932	0.1317	N	0.10733	0.035	0.09310	N	1	B;B	0.15719	0.004;0.014	B;B	0.25759	0.026;0.063	T	0.30707	-0.9969	10	0.15952	T	0.53	.	3.7832	0.08689	0.3231:0.1932:0.4837:0.0	.	263;263	P25021;Q7Z5R9	HRH2_HUMAN;.	N	263	ENSP00000366506:D263N;ENSP00000231683:D263N	ENSP00000231683:D263N	D	+	1	0	HRH2	175043629	0.002000	0.14202	0.008000	0.14137	0.773000	0.43773	0.915000	0.28638	0.404000	0.25506	0.555000	0.69702	GAT	HRH2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_recept		0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1	G			175111023	+1	no_errors	ENST00000377291	ensembl	human	known	70_37	missense	SNP	0.000	A
HRNR	388697	genome.wustl.edu	37	1	152191898	152191898	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:152191898G>A	ENST00000368801.2	-	3	2282	c.2207C>T	c.(2206-2208)tCa>tTa	p.S736L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	736					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S736L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTCCTAGATGACTGTCCTGA	0.557																																																	1	Substitution - Missense(1)	cervix(1)											203.0	198.0	199.0					1																	152191898		2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2207C>T	1.37:g.152191898G>A	ENSP00000357791:p.Ser736Leu		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S736L	ENST00000368801.2	37	c.2207	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	6.490	0.458638	0.12342	.	.	ENSG00000197915	ENST00000368801	T	0.17528	2.27	2.81	1.85	0.25348	.	.	.	.	.	T	0.04998	0.0134	L	0.53249	1.67	0.09310	N	1	P	0.37233	0.588	B	0.33196	0.159	T	0.33854	-0.9852	9	0.25751	T	0.34	.	6.9343	0.24459	0.0:0.0:0.7258:0.2742	.	736	Q86YZ3	HORN_HUMAN	L	736	ENSP00000357791:S736L	ENSP00000357791:S736L	S	-	2	0	HRNR	150458522	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	1.026000	0.30103	0.480000	0.27534	0.508000	0.49915	TCA	HRNR	-	NULL		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	G	XM_373868		152191898	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.001	A
HS6ST2	90161	genome.wustl.edu	37	X	132092453	132092453	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:132092453G>A	ENST00000370836.2	-	2	593	c.178C>T	c.(178-180)Cac>Tac	p.H60Y	HS6ST2_ENST00000370833.2_5'Flank|HS6ST2_ENST00000521489.1_Missense_Mutation_p.H60Y	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	60					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.H60Y(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TGGAATCCGTGAGACACACCC	0.711																																																	1	Substitution - Missense(1)	cervix(1)											7.0	9.0	9.0					X																	132092453		1776	3933	5709	SO:0001583	missense	90161			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.178C>T	X.37:g.132092453G>A	ENSP00000359873:p.His60Tyr		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	pfam_Sulfotransferase	p.H60Y	ENST00000370836.2	37	c.178	CCDS48169.1	X	.	.	.	.	.	.	.	.	.	.	G	7.387	0.629983	0.14257	.	.	ENSG00000171004	ENST00000370836;ENST00000521489	T;T	0.70045	-0.44;-0.45	3.65	1.83	0.25207	.	0.656452	0.12650	N	0.450515	T	0.42743	0.1216	N	0.08118	0	0.80722	D	1	B;B	0.16603	0.002;0.018	B;B	0.23018	0.043;0.007	T	0.17684	-1.0361	10	0.41790	T	0.15	-27.1626	5.3422	0.15990	0.1183:0.4034:0.4783:0.0	.	60;60	Q96MM7;E9PDY5	H6ST2_HUMAN;.	Y	60	ENSP00000359873:H60Y;ENSP00000429473:H60Y	ENSP00000359873:H60Y	H	-	1	0	HS6ST2	131920125	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	1.397000	0.34543	0.349000	0.23975	-0.202000	0.12741	CAC	HS6ST2	-	NULL		0.711	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	G	NM_147174		132092453	-1	no_errors	ENST00000521489	ensembl	human	known	70_37	missense	SNP	0.999	A
HSD17B11	51170	genome.wustl.edu	37	4	88312083	88312083	+	Missense_Mutation	SNP	C	C	G	rs377701964		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:88312083C>G	ENST00000358290.4	-	1	455	c.140G>C	c.(139-141)gGa>gCa	p.G47A	HSD17B11_ENST00000507286.1_Missense_Mutation_p.G47A	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	47					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)	p.G47A(1)		cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TCTCCCAATTCCATGCCCAGC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											113.0	116.0	115.0					4																	88312083		2203	4300	6503	SO:0001583	missense	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.140G>C	4.37:g.88312083C>G	ENSP00000351035:p.Gly47Ala		Q96HF6|Q9UKU4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.G47A	ENST00000358290.4	37	c.140	CCDS3619.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.106630	0.94292	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.95377	-3.69;-0.39	5.98	5.98	0.97165	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.98570	0.9522	H	0.98559	4.265	0.80722	D	1	D	0.57899	0.981	P	0.56751	0.805	D	0.99184	1.0868	10	0.87932	D	0	.	20.0538	0.97638	0.0:1.0:0.0:0.0	.	47	Q8NBQ5	DHB11_HUMAN	A	47	ENSP00000351035:G47A;ENSP00000423775:G47A	ENSP00000351035:G47A	G	-	2	0	HSD17B11	88531107	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.612000	0.74187	2.838000	0.97847	0.655000	0.94253	GGA	HSD17B11	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH		0.423	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B11	HGNC	protein_coding	OTTHUMT00000253041.1	C	NM_016245		88312083	-1	no_errors	ENST00000358290	ensembl	human	known	70_37	missense	SNP	1.000	G
HSD17B4	3295	genome.wustl.edu	37	5	118824910	118824910	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:118824910G>C	ENST00000256216.6	+	9	779	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000414835.2_Missense_Mutation_p.E76Q|HSD17B4_ENST00000510025.1_Missense_Mutation_p.E192Q|HSD17B4_ENST00000504811.1_Missense_Mutation_p.E241Q|HSD17B4_ENST00000513628.1_Missense_Mutation_p.E79Q|HSD17B4_ENST00000515320.1_Missense_Mutation_p.E198Q	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	216	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E216Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CCTGAAGCCAGAGTATGTGGC	0.358																																					Colon(35;490 801 34689 41394 43344)												1	Substitution - Missense(1)	cervix(1)											208.0	201.0	203.0					5																	118824910		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.646G>C	5.37:g.118824910G>C	ENSP00000256216:p.Glu216Gln		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.E216Q	ENST00000256216.6	37	c.646	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530971	0.85706	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.97	5.97	0.96955	NAD(P)-binding domain (1);	0.231325	0.50627	D	0.000104	D	0.92954	0.7758	M	0.84773	2.715	0.80722	D	1	B;B;B;B	0.31009	0.036;0.264;0.135;0.303	B;B;B;B	0.24848	0.056;0.027;0.029;0.035	D	0.91413	0.5152	10	0.62326	D	0.03	-5.4848	20.0189	0.97489	0.0:0.0:1.0:0.0	.	241;198;192;216	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	Q	216;198;192;241;76;79	ENSP00000256216:E216Q;ENSP00000424613:E198Q;ENSP00000424940:E192Q;ENSP00000420914:E241Q;ENSP00000411960:E76Q;ENSP00000425993:E79Q	ENSP00000256216:E216Q	E	+	1	0	HSD17B4	118852809	1.000000	0.71417	0.213000	0.23690	0.790000	0.44656	9.643000	0.98464	2.834000	0.97654	0.650000	0.86243	GAG	HSD17B4	-	prints_Glc/ribitol_DH		0.358	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	G	NM_000414		118824910	+1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	0.995	C
HSF4	3299	genome.wustl.edu	37	16	67200473	67200473	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67200473C>T	ENST00000521374.1	+	6	574	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F	HSF4_ENST00000421453.1_Missense_Mutation_p.L192F|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000584272.1_Missense_Mutation_p.L192F|HSF4_ENST00000264009.8_Missense_Mutation_p.L192F			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	192	Hydrophobic repeat HR-A/B.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L192F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GATCCAGTGTCTCTTTGGGCC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											56.0	63.0	61.0					16																	67200473		1909	4136	6045	SO:0001583	missense	3299			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.574C>T	16.37:g.67200473C>T	ENSP00000430947:p.Leu192Phe		Q99472|Q9ULV6	Missense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.L192F	ENST00000521374.1	37	c.574	CCDS42175.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.06|17.06	3.292659|3.292659	0.59976|0.59976	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729|ENST00000517750	.|.	.|.	.|.	4.43|4.43	4.43|4.43	0.53597|0.53597	.|.	0.176099|.	0.42964|.	D|.	0.000630|.	T|T	0.74779|0.74779	0.3761|0.3761	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;P|.	0.68483|.	0.958;0.897|.	T|T	0.76271|0.76271	-0.3020|-0.3020	9|5	0.72032|.	D|.	0.01|.	-14.9759|-14.9759	15.7826|15.7826	0.78272|0.78272	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	192;192|.	Q9ULV5-2;Q9ULV5|.	.;HSF4_HUMAN|.	F|F	192;192;192;192;129|38	.|.	ENSP00000264009:L192F|.	L|S	+|+	1|2	0|0	HSF4|HSF4	65757974|65757974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.806000|5.806000	0.69150|0.69150	2.255000|2.255000	0.74692|0.74692	0.563000|0.563000	0.77884|0.77884	CTC|TCT	HSF4	-	NULL		0.562	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF4	HGNC	protein_coding	OTTHUMT00000375080.1	C	NM_001538		67200473	+1	no_errors	ENST00000264009	ensembl	human	known	70_37	missense	SNP	1.000	T
HSPG2	3339	genome.wustl.edu	37	1	22159062	22159062	+	Silent	SNP	C	C	T	rs543398392		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:22159062C>T	ENST00000374695.3	-	81	11212	c.11133G>A	c.(11131-11133)ggG>ggA	p.G3711G	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3711	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.G3711G(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)	TGGTGGGGCTCCCTGGGACTC	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											68.0	69.0	69.0					1																	22159062		2203	4300	6503	SO:0001819	synonymous_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.11133G>A	1.37:g.22159062C>T			Q16287|Q5SZI3|Q9H3V5	Silent	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.G3711	ENST00000374695.3	37	c.11133	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.677	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22159062	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	silent	SNP	1.000	T
HTR1A	3350	genome.wustl.edu	37	5	63256875	63256875	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:63256875G>A	ENST00000323865.3	-	1	905	c.672C>T	c.(670-672)ttC>ttT	p.F224F	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	224					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.F224F(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGCGGATGCGGAAGCGCGCAG	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											77.0	85.0	82.0					5																	63256875		2203	4300	6503	SO:0001819	synonymous_variant	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.672C>T	5.37:g.63256875G>A			Q6LAE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.F224	ENST00000323865.3	37	c.672	CCDS34168.1	5																																																																																			HTR1A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt		0.567	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63256875	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	silent	SNP	1.000	A
HTR1A	3350	genome.wustl.edu	37	5	63257044	63257044	+	Missense_Mutation	SNP	G	G	A	rs146873107		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:63257044G>A	ENST00000323865.3	-	1	736	c.503C>T	c.(502-504)tCt>tTt	p.S168F	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	168					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.S168F(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGGCGGGATAGAGATGAGGAA	0.602																																																	1	Substitution - Missense(1)	cervix(1)						G	PHE/SER	0,4406		0,0,2203	88.0	104.0	99.0		503	5.7	1.0	5	dbSNP_134	99	1,8597	1.2+/-3.3	0,1,4298	no	missense	HTR1A	NM_000524.2	155	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	168/423	63257044	1,13003	2203	4299	6502	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.503C>T	5.37:g.63257044G>A	ENSP00000316244:p.Ser168Phe		Q6LAE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.S168F	ENST00000323865.3	37	c.503	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472527	0.84640	0.0	1.16E-4	ENSG00000178394	ENST00000323865	T	0.44881	0.91	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84334	0.0523	10	0.87932	D	0	.	18.8287	0.92128	0.0:0.0:1.0:0.0	.	168	P08908	5HT1A_HUMAN	F	168	ENSP00000316244:S168F	ENSP00000316244:S168F	S	-	2	0	HTR1A	63292800	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	TCT	HTR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.602	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63257044	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	missense	SNP	1.000	A
HTT	3064	genome.wustl.edu	37	4	3109064	3109064	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:3109064G>A	ENST00000355072.5	+	6	806	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	221					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.E221K(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGAGACCCGAAGAATCAGT	0.463																																																	1	Substitution - Missense(1)	cervix(1)											100.0	100.0	100.0					4																	3109064		1927	4142	6069	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.661G>A	4.37:g.3109064G>A	ENSP00000347184:p.Glu221Lys		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.E221K	ENST00000355072.5	37	c.661	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.177569	0.94846	.	.	ENSG00000197386	ENST00000355072	T	0.65549	-0.16	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.83235	-0.0061	10	0.87932	D	0	.	19.7048	0.96068	0.0:0.0:1.0:0.0	.	221	P42858	HD_HUMAN	K	221	ENSP00000347184:E221K	ENSP00000347184:E221K	E	+	1	0	HTT	3078862	1.000000	0.71417	0.976000	0.42696	0.561000	0.35649	9.835000	0.99442	2.654000	0.90174	0.650000	0.86243	GAA	HTT	-	superfamily_ARM-type_fold		0.463	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	G	NM_002111		3109064	+1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	1.000	A
HTT	3064	genome.wustl.edu	37	4	3182304	3182304	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:3182304G>A	ENST00000355072.5	+	36	4820	c.4675G>A	c.(4675-4677)Gat>Aat	p.D1559N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1559					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.D1559N(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAATAAAGCTGATGCAGGAAA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											114.0	115.0	115.0					4																	3182304		1923	4111	6034	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4675G>A	4.37:g.3182304G>A	ENSP00000347184:p.Asp1559Asn		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.D1559N	ENST00000355072.5	37	c.4675	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.842472	0.97016	.	.	ENSG00000197386	ENST00000355072	T	0.05513	3.43	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.00740	-1.1586	10	0.19147	T	0.46	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1559	P42858	HD_HUMAN	N	1559	ENSP00000347184:D1559N	ENSP00000347184:D1559N	D	+	1	0	HTT	3152102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.858000	0.99539	2.884000	0.98904	0.655000	0.94253	GAT	HTT	-	NULL		0.453	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	G	NM_002111		3182304	+1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	1.000	A
HYAL1	3373	genome.wustl.edu	37	3	50337989	50337989	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:50337989C>G	ENST00000266031.4	-	3	1848	c.1233G>C	c.(1231-1233)caG>caC	p.Q411H	NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.Q411H|HYAL1_ENST00000395144.2_Missense_Mutation_p.Q411H|HYAL1_ENST00000395143.2_Missense_Mutation_p.Q381H|HYAL3_ENST00000415204.1_5'Flank|HYAL3_ENST00000336307.1_5'Flank|HYAL1_ENST00000457214.2_Missense_Mutation_p.Q229H|NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000417393.1_5'Flank|HYAL3_ENST00000359051.3_5'Flank|NAT6_ENST00000354862.4_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL3_ENST00000513170.1_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.Q152H			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	411	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)	p.Q411H(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCACAGCCATCTGTGCCTGAT	0.592																																																	1	Substitution - Missense(1)	cervix(1)											100.0	99.0	100.0					3																	50337989		2203	4300	6503	SO:0001583	missense	3373			U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1233G>C	3.37:g.50337989C>G	ENSP00000266031:p.Gln411His		Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.Q411H	ENST00000266031.4	37	c.1233	CCDS2816.1	3	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853202	0.51270	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.30714	2.26;2.26;2.26;1.93;1.52;1.52	5.2	1.28	0.21552	Epidermal growth factor-like (1);	1.416630	0.04297	N	0.346694	T	0.29093	0.0723	L	0.41236	1.265	0.09310	N	0.999995	P;P	0.42993	0.797;0.752	P;B	0.48189	0.57;0.17	T	0.11591	-1.0581	10	0.15952	T	0.53	-0.1303	1.3939	0.02257	0.1383:0.3584:0.2691:0.2342	.	381;411	Q12794-2;Q12794	.;HYAL1_HUMAN	H	411;411;411;381;229;152	ENSP00000378576:Q411H;ENSP00000266031:Q411H;ENSP00000346068:Q411H;ENSP00000378575:Q381H;ENSP00000393358:Q229H;ENSP00000390149:Q152H	ENSP00000266031:Q411H	Q	-	3	2	HYAL1	50312993	0.000000	0.05858	0.106000	0.21319	0.269000	0.26545	-0.200000	0.09478	-0.049000	0.13379	0.313000	0.20887	CAG	HYAL1	-	pirsf_Hyaluronidase		0.592	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL1	HGNC	protein_coding	OTTHUMT00000346703.1	C			50337989	-1	no_errors	ENST00000266031	ensembl	human	known	70_37	missense	SNP	0.005	G
HYDIN	54768	genome.wustl.edu	37	16	70863624	70863624	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:70863624C>G	ENST00000393567.2	-	81	14159	c.14009G>C	c.(14008-14010)tGg>tCg	p.W4670S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4670					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGCCCCTCCCAGTGCTCGCC	0.592																																																	0													1.0	1.0	1.0					16																	70863624		793	2024	2817	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14009G>C	16.37:g.70863624C>G	ENSP00000377197:p.Trp4670Ser		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.W4669S	ENST00000393567.2	37	c.14006	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382568	0.82792	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01152	5.26	5.2	5.2	0.72013	.	0.000000	0.32161	U	0.006499	T	0.07908	0.0198	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.03325	-1.1048	10	0.52906	T	0.07	.	18.3863	0.90468	0.0:1.0:0.0:0.0	.	4669	F8WD23	.	S	4670;4669	ENSP00000377197:W4670S	ENSP00000313052:W4669S	W	-	2	0	HYDIN	69421125	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.416000	0.80143	2.441000	0.82636	0.505000	0.49811	TGG	HYDIN	-	NULL		0.592	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			70863624	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	G
HYDIN	54768	genome.wustl.edu	37	16	71015349	71015349	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:71015349C>T	ENST00000393567.2	-	29	4605	c.4455G>A	c.(4453-4455)ctG>ctA	p.L1485L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1485					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.L1436L(1)|p.L1484L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTCTCCGCTCAGAGTGATAT	0.483																																																	2	Substitution - coding silent(2)	cervix(2)											55.0	54.0	54.0					16																	71015349		1814	4057	5871	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4455G>A	16.37:g.71015349C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.L1484	ENST00000393567.2	37	c.4452	CCDS59269.1	16																																																																																			HYDIN	-	NULL		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71015349	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	silent	SNP	0.156	T
ICA1	3382	genome.wustl.edu	37	7	8268241	8268241	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:8268241C>G	ENST00000402384.3	-	4	512	c.246G>C	c.(244-246)aaG>aaC	p.K82N	ICA1_ENST00000265577.7_Missense_Mutation_p.K81N|ICA1_ENST00000401396.1_Missense_Mutation_p.K70N|ICA1_ENST00000407906.1_Missense_Mutation_p.K82N|ICA1_ENST00000422063.2_Missense_Mutation_p.K82N|ICA1_ENST00000396675.3_Missense_Mutation_p.K82N|ICA1_ENST00000406470.2_Missense_Mutation_p.K82N			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	82	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.K82N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AACATATCCTCTTTTGATAGA	0.303																																																	1	Substitution - Missense(1)	cervix(1)											98.0	90.0	93.0					7																	8268241		2200	4298	6498	SO:0001583	missense	3382				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.246G>C	7.37:g.8268241C>G	ENSP00000385570:p.Lys82Asn		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.K82N	ENST00000402384.3	37	c.246	CCDS34602.1	7	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674397	0.29693	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367;ENST00000447326;ENST00000430867	T;T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.96	5.96	0.96718	Arfaptin-like (3);	0.084483	0.85682	D	0.000000	T	0.70684	0.3252	N	0.05441	-0.05	0.58432	D	0.999994	B;B;B;B;D	0.61697	0.242;0.3;0.238;0.412;0.99	B;B;B;B;P	0.62491	0.101;0.114;0.114;0.178;0.903	T	0.66320	-0.5953	10	0.12103	T	0.63	-22.4086	11.3298	0.49468	0.0:0.892:0.0:0.108	.	82;82;81;82;70	B3FTQ2;E7ENI6;Q96HG3;Q05084;E9PDL4	.;.;.;ICA69_HUMAN;.	N	82;82;81;82;70;82;82;70;82;81	ENSP00000385570:K82N;ENSP00000385651:K82N;ENSP00000265577:K81N;ENSP00000379908:K82N;ENSP00000385305:K70N;ENSP00000403982:K82N;ENSP00000386021:K82N;ENSP00000316074:K70N;ENSP00000398435:K82N;ENSP00000397496:K81N	ENSP00000265577:K81N	K	-	3	2	ICA1	8234766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.019000	0.41001	2.832000	0.97577	0.655000	0.94253	AAG	ICA1	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom		0.303	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	C	NM_004968		8268241	-1	no_errors	ENST00000422063	ensembl	human	known	70_37	missense	SNP	1.000	G
IFI44	10561	genome.wustl.edu	37	1	79120726	79120726	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:79120726G>C	ENST00000370747.4	+	4	607	c.522G>C	c.(520-522)ttG>ttC	p.L174F	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	174					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.L174F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGTCTGCCTTGAGAACTTATG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											90.0	86.0	87.0					1																	79120726		2203	4300	6503	SO:0001583	missense	10561			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.522G>C	1.37:g.79120726G>C	ENSP00000359783:p.Leu174Phe		B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	pfam_TLDc	p.L174F	ENST00000370747.4	37	c.522	CCDS688.1	1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551608	0.27739	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	T;T	0.41065	1.01;1.01	3.85	-3.61	0.04556	.	0.899723	0.09439	N	0.801966	T	0.17066	0.0410	L	0.49350	1.555	0.25501	N	0.987558	P;P	0.50943	0.879;0.94	B;B	0.42959	0.403;0.403	T	0.14587	-1.0467	10	0.66056	D	0.02	.	6.8181	0.23843	0.3054:0.1253:0.5692:0.0	.	174;174	B7ZB11;Q8TCB0	.;IFI44_HUMAN	F	174;50	ENSP00000359783:L174F;ENSP00000399477:L50F	ENSP00000359783:L174F	L	+	3	2	IFI44	78893314	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.184000	0.03076	-0.799000	0.04439	0.563000	0.77884	TTG	IFI44	-	NULL		0.418	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	G	NM_006417		79120726	+1	no_errors	ENST00000370747	ensembl	human	known	70_37	missense	SNP	0.005	C
IFRD2	7866	genome.wustl.edu	37	3	50327471	50327471	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:50327471G>A	ENST00000429673.2	-	5	626	c.627C>T	c.(625-627)ctC>ctT	p.L209L	IFRD2_ENST00000484043.1_5'UTR|IFRD2_ENST00000336089.4_Silent_p.L311L|IFRD2_ENST00000436390.1_Silent_p.L145L|IFRD2_ENST00000417626.2_Silent_p.L145L			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	209						nucleus (GO:0005634)		p.L311L(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCTGCACGCAGAGCAGGCCTA	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											33.0	38.0	36.0					3																	50327471		2153	4266	6419	SO:0001819	synonymous_variant	7866			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.627C>T	3.37:g.50327471G>A			Q9BVB4|Q9UJ88	Silent	SNP	pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold	p.L311	ENST00000429673.2	37	c.933	CCDS46831.1	3																																																																																			IFRD2	-	pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold		0.622	IFRD2-202	KNOWN	basic|CCDS	protein_coding	IFRD2	HGNC	protein_coding		G	NM_006764		50327471	-1	no_errors	ENST00000336089	ensembl	human	known	70_37	silent	SNP	1.000	A
IK	3550	genome.wustl.edu	37	5	140041772	140041772	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:140041772G>A	ENST00000417647.2	+	19	1759	c.1620G>A	c.(1618-1620)gaG>gaA	p.E540E	WDR55_ENST00000358337.5_5'Flank	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	540					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCATTGAGAAGAGGAAGA	0.478																																																	0													162.0	154.0	157.0					5																	140041772		2027	4189	6216	SO:0001819	synonymous_variant	3550			BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1620G>A	5.37:g.140041772G>A			Q6IPD8	Silent	SNP	pfam_RED_N,pfam_RED_C	p.E540	ENST00000417647.2	37	c.1620	CCDS47280.1	5																																																																																			IK	-	pfam_RED_C		0.478	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	IK	HGNC	protein_coding	OTTHUMT00000372897.1	G	NM_006083		140041772	+1	no_errors	ENST00000417647	ensembl	human	known	70_37	silent	SNP	1.000	A
IKBKAP	8518	genome.wustl.edu	37	9	111641013	111641013	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:111641013C>T	ENST00000374647.5	-	34	3897	c.3590G>A	c.(3589-3591)cGc>cAc	p.R1197H	IKBKAP_ENST00000537196.1_Missense_Mutation_p.R848H|IKBKAP_ENST00000467959.1_5'Flank	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1197					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.R1197H(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCTTTTCGGCGATTCTTGGA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											160.0	158.0	158.0					9																	111641013		2203	4300	6503	SO:0001583	missense	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3590G>A	9.37:g.111641013C>T	ENSP00000363779:p.Arg1197His		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.R1197H	ENST00000374647.5	37	c.3590	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799624	0.90538	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.42900	1.39;0.96	5.86	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	M	0.88105	2.93	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.75551	-0.3278	10	0.87932	D	0	-13.8613	12.9833	0.58577	0.0:0.9218:0.0:0.0782	.	1197	O95163	ELP1_HUMAN	H	1197;848	ENSP00000363779:R1197H;ENSP00000439367:R848H	ENSP00000363779:R1197H	R	-	2	0	IKBKAP	110680834	1.000000	0.71417	0.944000	0.38274	0.981000	0.71138	6.594000	0.74104	1.484000	0.48361	0.655000	0.94253	CGC	IKBKAP	-	pirsf_IKI3		0.507	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	C			111641013	-1	no_errors	ENST00000374647	ensembl	human	known	70_37	missense	SNP	0.996	T
IKBKAP	8518	genome.wustl.edu	37	9	111668766	111668766	+	Splice_Site	SNP	C	C	T	rs539544212		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:111668766C>T	ENST00000374647.5	-	14	1768		c.e14-1		IKBKAP_ENST00000537196.1_Splice_Site	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein						chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.?(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAACTGGATTCTATTGTAAAT	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		19958	0.0		0.0	False		,,,				2504	0.001																1	Unknown(1)	cervix(1)											78.0	76.0	77.0					9																	111668766		2203	4300	6503	SO:0001630	splice_region_variant	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1461-1G>A	9.37:g.111668766C>T			Q5JSV2|Q9H327|Q9UG87	Splice_Site	SNP	-	e13-1	ENST00000374647.5	37	c.1461-1	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346211	0.61073	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4873	0.75575	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IKBKAP	110708587	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.998000	0.63927	2.813000	0.96785	0.637000	0.83480	.	IKBKAP	-	-		0.388	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	C		Intron	111668766	-1	no_errors	ENST00000374647	ensembl	human	known	70_37	splice_site	SNP	1.000	T
IKZF1	10320	genome.wustl.edu	37	7	50468297	50468297	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:50468297G>C	ENST00000331340.3	+	8	1687	c.1532G>C	c.(1531-1533)cGa>cCa	p.R511P	IKZF1_ENST00000357364.4_Missense_Mutation_p.R424P|IKZF1_ENST00000349824.4_Missense_Mutation_p.R368P|IKZF1_ENST00000438033.1_Missense_Mutation_p.R424P|IKZF1_ENST00000346667.4_Missense_Mutation_p.R281P|IKZF1_ENST00000359197.5_Missense_Mutation_p.R469P|IKZF1_ENST00000439701.1_Missense_Mutation_p.R469P|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.R424P	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	511					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.R511P(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACATAACGCGAGGGGAGCAC	0.627			"""D,T"""	BCL6	"""ALL, DLBCL"""																																			"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	29	Unknown(28)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(28)|cervix(1)											47.0	48.0	48.0					7																	50468297		2153	4269	6422	SO:0001583	missense	10320			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1532G>C	7.37:g.50468297G>C	ENSP00000331614:p.Arg511Pro		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R511P	ENST00000331340.3	37	c.1532		7	.	.	.	.	.	.	.	.	.	.	G	32	5.147751	0.94603	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.69260	0.3091	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.998	T	0.72097	-0.4393	9	0.87932	D	0	-9.4151	19.9376	0.97146	0.0:0.0:1.0:0.0	.	424;281;424;469;511	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	P	281;424;469;368;424;511;424;469	ENSP00000340080:R281P;ENSP00000342750:R424P;ENSP00000352123:R469P;ENSP00000342485:R368P;ENSP00000349928:R424P;ENSP00000331614:R511P;ENSP00000396554:R424P;ENSP00000413025:R469P	ENSP00000331614:R511P	R	+	2	0	IKZF1	50435791	1.000000	0.71417	0.727000	0.30756	0.928000	0.56348	9.758000	0.98927	2.711000	0.92665	0.655000	0.94253	CGA	IKZF1	-	smart_Znf_C2H2-like		0.627	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	G	NM_006060		50468297	+1	no_errors	ENST00000331340	ensembl	human	known	70_37	missense	SNP	1.000	C
IL15RA	3601	genome.wustl.edu	37	10	6002384	6002384	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:6002384G>C	ENST00000379977.3	-	4	626	c.529C>G	c.(529-531)Cag>Gag	p.Q177E	IL15RA_ENST00000397251.3_Missense_Mutation_p.Q112E|IL15RA_ENST00000397255.3_Missense_Mutation_p.Q177E|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397248.2_Missense_Mutation_p.Q141E|IL15RA_ENST00000530685.1_Missense_Mutation_p.Q144E|IL15RA_ENST00000397250.2_Missense_Mutation_p.Q79E|IL15RA_ENST00000528354.1_Missense_Mutation_p.Q144E|IL15RA_ENST00000379971.1_Missense_Mutation_p.Q79E|IL15RA_ENST00000525219.2_Missense_Mutation_p.Q141E			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	177					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.Q177E(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGTTGTCTGAGAGGGGGTG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											160.0	160.0	160.0					10																	6002384		2203	4300	6503	SO:0001583	missense	3601			U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.529C>G	10.37:g.6002384G>C	ENSP00000369312:p.Gln177Glu		B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Q177E	ENST00000379977.3	37	c.529	CCDS7074.1	10	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.722019	0.00700	.	.	ENSG00000134470	ENST00000397246;ENST00000397251;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000397250;ENST00000379971;ENST00000530685;ENST00000397255;ENST00000525219;ENST00000429135;ENST00000453922	T;T;T;T;T;T;T;T;T;T	0.47869	1.54;1.54;1.54;1.54;1.54;0.83;1.83;1.54;2.14;1.54	4.19	4.19	0.49359	.	0.697838	0.13216	N	0.404732	T	0.60843	0.2300	L	0.50333	1.59	0.09310	N	1	D;D;P	0.71674	0.998;0.998;0.954	D;D;D	0.67900	0.921;0.921;0.954	T	0.50684	-0.8799	10	0.66056	D	0.02	-30.2732	12.2228	0.54443	0.0:0.0:1.0:0.0	.	144;177;141	Q13261-3;Q13261;E7ETI1	.;I15RA_HUMAN;.	E	141;112;177;141;141;144;79;79;144;177;112;144;140	ENSP00000380423:Q112E;ENSP00000369312:Q177E;ENSP00000380421:Q141E;ENSP00000435454:Q144E;ENSP00000380422:Q79E;ENSP00000369306:Q79E;ENSP00000435995:Q144E;ENSP00000380426:Q177E;ENSP00000395113:Q144E;ENSP00000405107:Q140E	ENSP00000322245:Q141E	Q	-	1	0	IL15RA	6042390	0.994000	0.37717	0.156000	0.22583	0.012000	0.07955	3.911000	0.56378	2.331000	0.79229	0.561000	0.74099	CAG	IL15RA	-	NULL		0.582	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL15RA	HGNC	protein_coding	OTTHUMT00000046615.2	G	NM_172200, NM_002189		6002384	-1	no_errors	ENST00000379977	ensembl	human	known	70_37	missense	SNP	0.255	C
IL25	64806	genome.wustl.edu	37	14	23844999	23844999	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:23844999G>A	ENST00000329715.2	+	2	702	c.444G>A	c.(442-444)gaG>gaA	p.E148E	CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|IL25_ENST00000397242.2_Silent_p.E132E|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000555731.1_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	148					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)	p.E148E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GCCATGGCGAGAAGGGCACCC	0.637																																																	1	Substitution - coding silent(1)	cervix(1)											105.0	95.0	99.0					14																	23844999		2203	4300	6503	SO:0001819	synonymous_variant	64806			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.444G>A	14.37:g.23844999G>A			Q2M3F0|Q8IZV3|Q8WXB0	Silent	SNP	pfam_Interleukin-17	p.E148	ENST00000329715.2	37	c.444	CCDS9597.1	14																																																																																			IL25	-	pfam_Interleukin-17		0.637	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL25	HGNC	protein_coding	OTTHUMT00000071789.2	G			23844999	+1	no_errors	ENST00000329715	ensembl	human	known	70_37	silent	SNP	0.003	A
IFNL2	282616	genome.wustl.edu	37	19	39760152	39760152	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:39760152G>A	ENST00000331982.5	+	4	350	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	99					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.E99K(1)									CATGGCTTTGGAGGCTGAGCT	0.627																																																	1	Substitution - Missense(1)	cervix(1)											38.0	42.0	41.0					19																	39760152		2203	4300	6503	SO:0001583	missense	282616			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.295G>A	19.37:g.39760152G>A	ENSP00000333639:p.Glu99Lys		Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	NULL	p.E99K	ENST00000331982.5	37	c.295	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	g	15.43	2.831984	0.50845	.	.	ENSG00000183709	ENST00000331982	T	0.36520	1.25	3.2	2.03	0.26663	.	0.188214	0.37178	N	0.002214	T	0.48642	0.1511	M	0.82823	2.61	0.26802	N	0.969189	D	0.60575	0.988	P	0.52856	0.711	T	0.44390	-0.9331	10	0.59425	D	0.04	-6.3662	8.1583	0.31183	0.0:0.3758:0.6242:0.0	.	99	Q8IZJ0	IL28A_HUMAN	K	99	ENSP00000333639:E99K	ENSP00000333639:E99K	E	+	1	0	IL28A	44451992	1.000000	0.71417	0.974000	0.42286	0.525000	0.34531	0.965000	0.29319	0.578000	0.29487	0.398000	0.26397	GAG	IL28A	-	NULL		0.627	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL28A	HGNC	protein_coding	OTTHUMT00000463833.1	G	NM_172138		39760152	+1	no_errors	ENST00000331982	ensembl	human	known	70_37	missense	SNP	0.969	A
IL37	27178	genome.wustl.edu	37	2	113676372	113676372	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:113676372G>A	ENST00000263326.3	+	5	685	c.643G>A	c.(643-645)Gag>Aag	p.E215K	IL37_ENST00000349806.3_Missense_Mutation_p.E154K|IL37_ENST00000311328.2_Missense_Mutation_p.E189K|IL37_ENST00000352179.3_Missense_Mutation_p.E194K|IL37_ENST00000353225.3_Missense_Mutation_p.E175K	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	215					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)	p.E189K(1)|p.E215K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GAGCCCCAGTGAGGTCAGCGA	0.403																																																	2	Substitution - Missense(2)	cervix(2)											62.0	66.0	64.0					2																	113676372		2203	4300	6503	SO:0001583	missense	27178			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.643G>A	2.37:g.113676372G>A	ENSP00000263326:p.Glu215Lys		B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA	p.E215K	ENST00000263326.3	37	c.643	CCDS2103.1	2	.	.	.	.	.	.	.	.	.	.	g	16.18	3.051024	0.55218	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225;ENST00000311328	T;T;T;T;T	0.21543	2.5;2.61;2.02;2.0;2.37	3.7	0.803	0.18691	.	1.068200	0.07417	N	0.893308	T	0.32346	0.0826	L	0.47716	1.5	0.09310	N	1	D;B;D;D;D	0.71674	0.99;0.007;0.998;0.998;0.996	P;B;P;P;P	0.60609	0.634;0.013;0.877;0.828;0.677	T	0.19257	-1.0311	10	0.66056	D	0.02	0.2636	5.8515	0.18696	0.3639:0.0:0.6361:0.0	.	189;154;175;194;215	Q9NZH6-2;Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;.;IL37_HUMAN	K	215;194;154;175;189	ENSP00000263326:E215K;ENSP00000263327:E194K;ENSP00000263328:E154K;ENSP00000309208:E175K;ENSP00000309883:E189K	ENSP00000263326:E215K	E	+	1	0	IL37	113392843	0.002000	0.14202	0.000000	0.03702	0.240000	0.25518	0.360000	0.20250	0.040000	0.15660	0.556000	0.70494	GAG	IL37	-	NULL		0.403	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL37	HGNC	protein_coding	OTTHUMT00000254126.1	G	NM_014439		113676372	+1	no_errors	ENST00000263326	ensembl	human	known	70_37	missense	SNP	0.000	A
IL3RA	3563	genome.wustl.edu	37	X	1497563	1497563	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:1497563G>C	ENST00000331035.4	+	10	1235	c.886G>C	c.(886-888)Gag>Cag	p.E296Q	IL3RA_ENST00000381469.2_Missense_Mutation_p.E218Q	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	296					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)	p.E296Q(1)		lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	GTGCGACCAGGAGGAGGGCGC	0.667																																																	1	Substitution - Missense(1)	cervix(1)											105.0	83.0	91.0					X																	1497563		2200	4295	6495	SO:0001583	missense	3563			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.886G>C	X.37:g.1497563G>C	ENSP00000327890:p.Glu296Gln		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.E296Q	ENST00000331035.4	37	c.886	CCDS14113.1	X	.	.	.	.	.	.	.	.	.	.	.	5.838	0.338922	0.11069	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;D	0.96011	1.42;-3.88	0.568	0.568	0.17333	.	692.694000	0.00824	U	0.001611	D	0.92492	0.7616	L	0.29908	0.895	0.09310	N	1	P;D	0.54964	0.833;0.969	P;B	0.47015	0.534;0.425	D	0.85757	0.1347	9	0.22109	T	0.4	.	.	.	.	.	217;296	P26951-2;P26951	.;IL3RA_HUMAN	Q	296;218	ENSP00000327890:E296Q;ENSP00000370878:E218Q	ENSP00000327890:E296Q	E	+	1	0	IL3RA	1457563	0.002000	0.14202	0.004000	0.12327	0.057000	0.15508	0.037000	0.13840	0.567000	0.29293	0.402000	0.26972	GAG	IL3RA	-	NULL		0.667	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3RA	HGNC	protein_coding	OTTHUMT00000055600.3	G			1497563	+1	no_errors	ENST00000331035	ensembl	human	known	70_37	missense	SNP	0.004	C
IL5RA	3568	genome.wustl.edu	37	3	3139885	3139885	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:3139885G>A	ENST00000446632.2	-	6	1031	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	IL5RA_ENST00000430514.2_Missense_Mutation_p.L153F|IL5RA_ENST00000383846.1_Missense_Mutation_p.L153F|IL5RA_ENST00000311981.8_Missense_Mutation_p.L153F|IL5RA_ENST00000418488.2_Missense_Mutation_p.L153F|IL5RA_ENST00000256452.3_Missense_Mutation_p.L153F|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000456302.1_Missense_Mutation_p.L153F|IL5RA_ENST00000438560.1_Missense_Mutation_p.L153F	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	153					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.L153F(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GTGCAGTGAAGGGAAACTTGG	0.423																																					GBM(169;430 2801 24955 28528)												1	Substitution - Missense(1)	cervix(1)											212.0	219.0	216.0					3																	3139885		2203	4300	6503	SO:0001583	missense	3568			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.457C>T	3.37:g.3139885G>A	ENSP00000412209:p.Leu153Phe		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.L153F	ENST00000446632.2	37	c.457	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.377834	0.95945	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.72	5.72	0.89469	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.81725	0.4883	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.80674	-0.1277	10	0.28530	T	0.3	-27.8828	16.6161	0.84916	0.0:0.0:1.0:0.0	.	153;153;153;153;153	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	F	153	ENSP00000412209:L153F;ENSP00000390753:L153F;ENSP00000256452:L153F;ENSP00000388858:L153F;ENSP00000373358:L153F;ENSP00000309196:L153F;ENSP00000400400:L153F;ENSP00000392059:L153F;ENSP00000398117:L153F	ENSP00000256452:L153F	L	-	1	0	IL5RA	3114885	1.000000	0.71417	0.692000	0.30179	0.782000	0.44232	3.424000	0.52764	2.691000	0.91804	0.655000	0.94253	CTT	IL5RA	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3		0.423	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	G			3139885	-1	no_errors	ENST00000256452	ensembl	human	known	70_37	missense	SNP	0.985	A
INO80	54617	genome.wustl.edu	37	15	41275976	41275976	+	Silent	SNP	G	G	A	rs535315141		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:41275976G>A	ENST00000361937.3	-	34	4645	c.4221C>T	c.(4219-4221)gtC>gtT	p.V1407V	INO80_ENST00000561244.1_5'Flank|INO80_ENST00000401393.3_Silent_p.V1407V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1407	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V1407V(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CGGTATCTGAGACGGAGCCTG	0.547																																																	2	Substitution - coding silent(2)	cervix(2)											88.0	66.0	73.0					15																	41275976		2203	4300	6503	SO:0001819	synonymous_variant	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4221C>T	15.37:g.41275976G>A			A6H8X4|Q9NTG6	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1407	ENST00000361937.3	37	c.4221	CCDS10071.1	15																																																																																			INO80	-	NULL		0.547	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	G	NM_017553		41275976	-1	no_errors	ENST00000361937	ensembl	human	known	70_37	silent	SNP	0.998	A
INPP1	3628	genome.wustl.edu	37	2	191233880	191233880	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:191233880G>A	ENST00000322522.4	+	5	974	c.518G>A	c.(517-519)gGa>gAa	p.G173E	INPP1_ENST00000392329.2_Missense_Mutation_p.G173E|INPP1_ENST00000541441.1_Missense_Mutation_p.G173E	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	173					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)	p.G173E(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			TCCAACCAGGGAATCTTCCCC	0.388																																					Melanoma(130;184 1743 2185 19805 38428)												1	Substitution - Missense(1)	cervix(1)											103.0	103.0	103.0					2																	191233880		2203	4300	6503	SO:0001583	missense	3628				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.518G>A	2.37:g.191233880G>A	ENSP00000325423:p.Gly173Glu			Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.G173E	ENST00000322522.4	37	c.518	CCDS2305.1	2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439356	0.83885	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441;ENST00000431594;ENST00000444194;ENST00000423767	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.24	5.24	0.73138	.	0.155330	0.56097	D	0.000023	T	0.63046	0.2478	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.63400	-0.6646	10	0.41790	T	0.15	-23.3682	16.4272	0.83818	0.0:0.0:1.0:0.0	.	173	P49441	INPP_HUMAN	E	173	ENSP00000376142:G173E;ENSP00000325423:G173E;ENSP00000440650:G173E;ENSP00000409786:G173E;ENSP00000404732:G173E;ENSP00000395424:G173E	ENSP00000325423:G173E	G	+	2	0	INPP1	190942125	1.000000	0.71417	0.981000	0.43875	0.918000	0.54935	4.835000	0.62781	2.747000	0.94245	0.644000	0.83932	GGA	INPP1	-	pfam_Inositol_monophosphatase		0.388	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2	G			191233880	+1	no_errors	ENST00000322522	ensembl	human	known	70_37	missense	SNP	0.998	A
INPP5F	22876	genome.wustl.edu	37	10	121569692	121569692	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:121569692C>G	ENST00000361976.2	+	14	1816	c.1650C>G	c.(1648-1650)ctC>ctG	p.L550L		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.L550L(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GATATTACCTCAACCGATTTA	0.363																																																	1	Substitution - coding silent(1)	cervix(1)											140.0	119.0	126.0					10																	121569692		2203	4300	6503	SO:0001819	synonymous_variant	22876			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1650C>G	10.37:g.121569692C>G			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.L550	ENST00000361976.2	37	c.1650	CCDS7616.1	10																																																																																			INPP5F	-	NULL		0.363	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	C	NM_014937		121569692	+1	no_errors	ENST00000361976	ensembl	human	known	70_37	silent	SNP	1.000	G
INTS2	57508	genome.wustl.edu	37	17	59999170	59999170	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:59999170C>T	ENST00000444766.3	-	4	550	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	INTS2_ENST00000251334.6_Missense_Mutation_p.E151K	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	159					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.E159K(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAAAAAAATTCTCCGTTGGAC	0.308																																																	1	Substitution - Missense(1)	cervix(1)											48.0	45.0	46.0					17																	59999170		1791	4062	5853	SO:0001583	missense	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.475G>A	17.37:g.59999170C>T	ENSP00000414237:p.Glu159Lys		Q9ULD3	Missense_Mutation	SNP	NULL	p.E159K	ENST00000444766.3	37	c.475	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788366	0.90367	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T;T	0.51817	0.8;0.69	5.61	5.61	0.85477	.	0.042967	0.85682	D	0.000000	T	0.64649	0.2617	L	0.49126	1.545	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	T	0.59495	-0.7444	9	.	.	.	-9.9801	19.6275	0.95684	0.0:1.0:0.0:0.0	.	159	Q9H0H0	INT2_HUMAN	K	159;158	ENSP00000414237:E159K;ENSP00000251334:E158K	.	E	-	1	0	INTS2	57353952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.475000	0.81041	2.654000	0.90174	0.650000	0.86243	GAA	INTS2	-	NULL		0.308	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	C	NM_020748		59999170	-1	no_errors	ENST00000444766	ensembl	human	known	70_37	missense	SNP	1.000	T
IPO13	9670	genome.wustl.edu	37	1	44424532	44424532	+	Missense_Mutation	SNP	A	A	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:44424532A>C	ENST00000372343.3	+	11	2661	c.1999A>C	c.(1999-2001)Aag>Cag	p.K667Q		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	667					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K667Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGCTTCGGAAGCTGCCAGT	0.557																																																	1	Substitution - Missense(1)	cervix(1)											77.0	72.0	74.0					1																	44424532		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1999A>C	1.37:g.44424532A>C	ENSP00000361418:p.Lys667Gln		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.K667Q	ENST00000372343.3	37	c.1999	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693640	0.48202	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.66	5.66	0.87406	Armadillo-type fold (1);	0.272907	0.40728	N	0.001032	T	0.36744	0.0978	N	0.08118	0	0.80722	D	1	B	0.16396	0.017	B	0.09377	0.004	T	0.25950	-1.0117	9	0.13108	T	0.6	-20.3056	15.8894	0.79279	1.0:0.0:0.0:0.0	.	667	O94829	IPO13_HUMAN	Q	667	.	ENSP00000361418:K667Q	K	+	1	0	IPO13	44197119	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.826000	0.55738	2.154000	0.67381	0.528000	0.53228	AAG	IPO13	-	superfamily_ARM-type_fold		0.557	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	A	NM_014652		44424532	+1	no_errors	ENST00000372343	ensembl	human	known	70_37	missense	SNP	1.000	C
INTS3	65123	genome.wustl.edu	37	1	153742319	153742319	+	Splice_Site	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:153742319C>G	ENST00000318967.2	+	23	2956	c.2388C>G	c.(2386-2388)ctC>ctG	p.L796L	INTS3_ENST00000435409.2_Splice_Site_p.L796L|INTS3_ENST00000512605.1_Splice_Site_p.L590L|INTS3_ENST00000456435.1_Splice_Site_p.L590L|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	797					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.L796L(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCAACATACTCAGTAAGTGAT	0.507																																																	1	Substitution - coding silent(1)	cervix(1)											97.0	87.0	90.0					1																	153742319		2203	4300	6503	SO:0001630	splice_region_variant	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2389+1C>G	1.37:g.153742319C>G			A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	pfam_Int_cplx_su3	p.L796	ENST00000318967.2	37	c.2388	CCDS1052.1	1																																																																																			INTS3	-	NULL		0.507	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	C	NM_023015	Silent	153742319	+1	no_errors	ENST00000318967	ensembl	human	known	70_37	silent	SNP	1.000	G
IQCH	64799	genome.wustl.edu	37	15	67664960	67664960	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:67664960C>G	ENST00000335894.4	+	9	1331	c.1265C>G	c.(1264-1266)tCa>tGa	p.S422*	IQCH_ENST00000546225.1_Nonsense_Mutation_p.S170*|IQCH_ENST00000358767.3_Nonsense_Mutation_p.S249*|IQCH_ENST00000360277.4_Nonsense_Mutation_p.S174*	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	422								p.S422*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CTAAAGGAATCACGTCAGAGA	0.458																																																	1	Substitution - Nonsense(1)	cervix(1)											111.0	117.0	115.0					15																	67664960		2198	4298	6496	SO:0001587	stop_gained	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1265C>G	15.37:g.67664960C>G	ENSP00000336861:p.Ser422*		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Nonsense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.S422*	ENST00000335894.4	37	c.1265	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.219988	0.98712	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	.	.	.	6.02	2.92	0.33932	.	0.448888	0.24240	N	0.040261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-13.9848	12.8137	0.57652	0.2266:0.6636:0.1098:0.0	.	.	.	.	X	249;170;422;174	.	ENSP00000336861:S422X	S	+	2	0	IQCH	65452014	0.010000	0.17322	0.023000	0.16930	0.685000	0.39939	1.923000	0.40055	1.483000	0.48342	0.650000	0.86243	TCA	IQCH	-	NULL		0.458	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	C	NM_022784		67664960	+1	no_errors	ENST00000335894	ensembl	human	known	70_37	nonsense	SNP	0.001	G
IQGAP2	10788	genome.wustl.edu	37	5	75866443	75866443	+	Silent	SNP	C	C	G	rs544252052	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:75866443C>G	ENST00000274364.6	+	4	639	c.342C>G	c.(340-342)gtC>gtG	p.V114V	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	114	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.V114V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATAATACCGTCCAGTGGTTAA	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											175.0	164.0	168.0					5																	75866443		2203	4300	6503	SO:0001819	synonymous_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.342C>G	5.37:g.75866443C>G			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.V114	ENST00000274364.6	37	c.342	CCDS34188.1	5																																																																																			IQGAP2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.453	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	C	NM_006633		75866443	+1	no_errors	ENST00000274364	ensembl	human	known	70_37	silent	SNP	1.000	G
IRF2	3660	genome.wustl.edu	37	4	185340682	185340682	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:185340682C>G	ENST00000393593.3	-	3	335	c.128G>C	c.(127-129)aGa>aCa	p.R43T	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	43					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R43T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCACCCATGTCTAGCCGCATG	0.428																																																	1	Substitution - Missense(1)	cervix(1)											118.0	118.0	118.0					4																	185340682		2203	4300	6503	SO:0001583	missense	3660				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.128G>C	4.37:g.185340682C>G	ENSP00000377218:p.Arg43Thr		D6RCK5|H0Y8S3|Q6IAS7|Q96B99	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.R43T	ENST00000393593.3	37	c.128	CCDS3835.1	4	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328406	0.41197	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87	4.99	4.99	0.66335	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99140	0.9703	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99470	1.0945	10	0.87932	D	0	-19.0434	18.4742	0.90786	0.0:1.0:0.0:0.0	.	43	P14316	IRF2_HUMAN	T	43	ENSP00000377218:R43T;ENSP00000427204:R43T;ENSP00000424552:R43T;ENSP00000422860:R43T	ENSP00000377218:R43T	R	-	2	0	IRF2	185577676	1.000000	0.71417	0.903000	0.35520	0.979000	0.70002	4.821000	0.62679	2.581000	0.87130	0.655000	0.94253	AGA	IRF2	-	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		0.428	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2	HGNC	protein_coding	OTTHUMT00000361393.1	C			185340682	-1	no_errors	ENST00000393593	ensembl	human	known	70_37	missense	SNP	0.991	G
IRF6	3664	genome.wustl.edu	37	1	209969858	209969858	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:209969858C>T	ENST00000367021.3	-	4	386	c.214G>A	c.(214-216)Gat>Aat	p.D72N	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	72					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)	p.D72N(1)		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)		TCAGGGTCATCCACCCCTTCC	0.532										HNSCC(57;0.16)																																							1	Substitution - Missense(1)	cervix(1)											99.0	74.0	83.0					1																	209969858		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.214G>A	1.37:g.209969858C>T	ENSP00000355988:p.Asp72Asn		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.D72N	ENST00000367021.3	37	c.214	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.480779	0.96307	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97976	-4.64;-4.64	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99316	1.0905	9	.	.	.	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	72	O14896	IRF6_HUMAN	N	72	ENSP00000355988:D72N;ENSP00000403855:D72N	.	D	-	1	0	IRF6	208036481	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.311000	0.78958	2.652000	0.90054	0.655000	0.94253	GAT	IRF6	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom		0.532	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	HGNC	protein_coding	OTTHUMT00000088827.1	C	NM_006147		209969858	-1	no_errors	ENST00000367021	ensembl	human	known	70_37	missense	SNP	1.000	T
ITGA7	3679	genome.wustl.edu	37	12	56080064	56080064	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56080064G>C	ENST00000555728.1	-	26	3344				ITGA7_ENST00000553804.1_Intron|ITGA7_ENST00000394230.2_Missense_Mutation_p.S1077C|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Missense_Mutation_p.S1073C|ITGA7_ENST00000257880.7_Missense_Mutation_p.S1117C|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000257879.6_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7						blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTGGGAAAAGATGAGCTCTG	0.557																																																	0													20.0	18.0	19.0					12																	56080064		876	1990	2866	SO:0001627	intron_variant	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3316-992C>G	12.37:g.56080064G>C			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S1117C	ENST00000555728.1	37	c.3350		12	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500193	0.64298	.	.	ENSG00000135424	ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000557555	T;T;T	0.70631	-0.5;-0.5;-0.5	5.47	4.5	0.54988	.	.	.	.	.	T	0.69869	0.3159	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.62826	-0.6772	6	0.54805	T	0.06	.	9.8032	0.40777	0.0:0.0:0.7443:0.2557	.	.	.	.	C	1117;1077;1073;946;103	ENSP00000257880:S1117C;ENSP00000377777:S1077C;ENSP00000377776:S1073C	ENSP00000257880:S1117C	S	-	2	0	ITGA7	54366331	0.995000	0.38212	0.966000	0.40874	0.952000	0.60782	2.651000	0.46674	2.580000	0.87095	0.561000	0.74099	TCT	ITGA7	-	NULL		0.557	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	G	NM_002206		56080064	-1	no_errors	ENST00000257880	ensembl	human	known	70_37	missense	SNP	0.670	C
ITGAV	3685	genome.wustl.edu	37	2	187529285	187529285	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:187529285C>G	ENST00000261023.3	+	20	2264	c.1990C>G	c.(1990-1992)Caa>Gaa	p.Q664E	ITGAV_ENST00000433736.2_Missense_Mutation_p.Q618E|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q628E	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	664					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.Q664E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GGCTCAGAATCAAGGAGAAGG	0.433																																					Melanoma(58;108 1995 6081)												1	Substitution - Missense(1)	cervix(1)											185.0	171.0	176.0					2																	187529285		2203	4300	6503	SO:0001583	missense	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1990C>G	2.37:g.187529285C>G	ENSP00000261023:p.Gln664Glu		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q664E	ENST00000261023.3	37	c.1990	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	C	8.472	0.857797	0.17178	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.42900	0.96;0.96;0.96	6.17	6.17	0.99709	Integrin alpha-2 (1);	0.302403	0.37906	N	0.001888	T	0.30634	0.0771	N	0.17379	0.485	0.42947	D	0.994365	B;B;B	0.32918	0.39;0.001;0.39	B;B;B	0.36418	0.224;0.004;0.224	T	0.08911	-1.0699	10	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	618;628;664	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	E	664;628;618	ENSP00000261023:Q664E;ENSP00000364042:Q628E;ENSP00000404291:Q618E	ENSP00000261023:Q664E	Q	+	1	0	ITGAV	187237530	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	2.275000	0.43399	2.941000	0.99782	0.655000	0.94253	CAA	ITGAV	-	pfam_Integrin_alpha-2		0.433	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	C	NM_002210		187529285	+1	no_errors	ENST00000261023	ensembl	human	known	70_37	missense	SNP	1.000	G
ITGB3	3690	genome.wustl.edu	37	17	45368382	45368382	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:45368382C>G	ENST00000559488.1	+	9	1204	c.1188C>G	c.(1186-1188)ttC>ttG	p.F396L	ITGB3_ENST00000571680.1_Missense_Mutation_p.F396L|ITGB3_ENST00000435993.2_Missense_Mutation_p.F349L|ITGB3_ENST00000560629.1_Missense_Mutation_p.Q385E	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	396					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.F396L(1)|p.F349L(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CTCTATCCTTCAATGCCACCT	0.507																																																	2	Substitution - Missense(2)	cervix(2)											135.0	115.0	121.0					17																	45368382		2203	4300	6503	SO:0001583	missense	3690				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1188C>G	17.37:g.45368382C>G	ENSP00000452786:p.Phe396Leu		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.F396L	ENST00000559488.1	37	c.1188	CCDS11511.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544045	0.86022	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	T	0.65549	-0.16	5.33	4.35	0.52113	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	M	0.81112	2.525	0.80722	D	1	D;D	0.69078	0.965;0.997	P;D	0.63381	0.779;0.914	T	0.78336	-0.2243	10	0.87932	D	0	.	9.8815	0.41236	0.0:0.8383:0.0:0.1617	.	396;396	P05106;Q2YFE1	ITB3_HUMAN;.	L	396;349	ENSP00000407801:F349L	ENSP00000262017:F396L	F	+	3	2	C17orf57	42723381	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	2.039000	0.41193	2.494000	0.84150	0.462000	0.41574	TTC	ITGB3	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu		0.507	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB3	HGNC	protein_coding	OTTHUMT00000416111.3	C	NM_000212		45368382	+1	no_errors	ENST00000262017	ensembl	human	known	70_37	missense	SNP	1.000	G
ITGB4	3691	genome.wustl.edu	37	17	73738843	73738843	+	Splice_Site	SNP	G	G	C	rs113310826		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:73738843G>C	ENST00000200181.3	+	25	3149		c.e25+1		ITGB4_ENST00000449880.2_Splice_Site|ITGB4_ENST00000450894.3_Splice_Site|ITGB4_ENST00000339591.3_Splice_Site|ITGB4_ENST00000579662.1_Splice_Site	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4						amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGGAGCAAGGTGGGTCTGGG	0.652																																																	1	Unknown(1)	cervix(1)											23.0	22.0	22.0					17																	73738843		2202	4298	6500	SO:0001630	splice_region_variant	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2962+1G>C	17.37:g.73738843G>C			A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Splice_Site	SNP	-	e24+1	ENST00000200181.3	37	c.2962+1	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907824	0.72868	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1087	0.93309	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGB4	71250438	1.000000	0.71417	0.989000	0.46669	0.778000	0.44026	9.786000	0.99046	2.546000	0.85860	0.556000	0.70494	.	ITGB4	-	-		0.652	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	G		Intron	73738843	+1	no_errors	ENST00000200181	ensembl	human	known	70_37	splice_site	SNP	1.000	C
ITSN1	6453	genome.wustl.edu	37	21	35147123	35147123	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:35147123G>A	ENST00000381318.3	+	13	1684	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	ITSN1_ENST00000379960.5_Missense_Mutation_p.E466K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E466K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E466K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E429K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E466K|ITSN1_ENST00000437442.2_Missense_Mutation_p.E466K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E466K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E466K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E466K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E466K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E466K|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	466	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E466K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAAAGAACAAGAGGACATAGT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											76.0	78.0	77.0					21																	35147123		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1396G>A	21.37:g.35147123G>A	ENSP00000370719:p.Glu466Lys		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E466K	ENST00000381318.3	37	c.1396	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	34	5.348740	0.95807	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.51817	1.58;0.69;0.72;0.69;1.58;1.58;0.69;1.58;1.58;1.58;1.58;1.58	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;0.993;0.997;0.999;0.997;0.998;0.998;1.0;0.998	D;D;D;D;D;D;D;D;D;D	0.85130	0.993;0.993;0.971;0.991;0.994;0.985;0.991;0.991;0.997;0.993	T	0.75897	-0.3155	10	0.87932	D	0	.	17.8738	0.88818	0.0:0.0:1.0:0.0	.	429;429;429;466;466;466;466;466;466;429	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	K	429;466;466;466;466;466;466;466;466;466;466;466;466;466	ENSP00000382290:E429K;ENSP00000370719:E466K;ENSP00000370691:E466K;ENSP00000370685:E466K;ENSP00000382301:E466K;ENSP00000382289:E466K;ENSP00000382292:E466K;ENSP00000382286:E466K;ENSP00000382275:E466K;ENSP00000387377:E466K;ENSP00000382265:E466K;ENSP00000369294:E466K	ENSP00000369294:E466K	E	+	1	0	ITSN1	34068993	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.784000	0.85713	2.289000	0.77006	0.655000	0.94253	GAG	ITSN1	-	NULL		0.368	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	G	NM_003024		35147123	+1	no_errors	ENST00000381285	ensembl	human	known	70_37	missense	SNP	1.000	A
ITSN2	50618	genome.wustl.edu	37	2	24471720	24471720	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:24471720G>A	ENST00000355123.4	-	26	3595	c.3152C>T	c.(3151-3153)tCa>tTa	p.S1051L	ITSN2_ENST00000361999.3_Missense_Mutation_p.S1024L|ITSN2_ENST00000406921.3_Missense_Mutation_p.S1051L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1051					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.S1051L(1)|p.S1050L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTTTATTTGATGCTCCAGA	0.328																																																	2	Substitution - Missense(2)	cervix(2)											89.0	95.0	93.0					2																	24471720		2203	4300	6503	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3152C>T	2.37:g.24471720G>A	ENSP00000347244:p.Ser1051Leu		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.S1051L	ENST00000355123.4	37	c.3152	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604233	0.28534	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.75	3.93	0.45458	Src homology-3 domain (1);	1.233600	0.06558	N	0.746273	T	0.05640	0.0148	N	0.02539	-0.55	0.29745	N	0.836829	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.31613	-0.9937	10	0.11794	T	0.64	.	7.2032	0.25893	0.3237:0.0:0.6763:0.0	.	1051;1024;1051	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	L	1024;1051;1024;1051	ENSP00000354561:S1024L;ENSP00000347244:S1051L;ENSP00000370250:S1024L;ENSP00000384499:S1051L	ENSP00000347244:S1051L	S	-	2	0	ITSN2	24325224	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	1.498000	0.35660	1.586000	0.49944	0.655000	0.94253	TCA	ITSN2	-	superfamily_SH3_domain		0.328	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	G	NM_006277		24471720	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	missense	SNP	0.850	A
JAG1	182	genome.wustl.edu	37	20	10639291	10639291	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:10639291G>A	ENST00000254958.5	-	4	1034	c.519C>T	c.(517-519)aaC>aaT	p.N173N	JAG1_ENST00000423891.2_Silent_p.N14N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	173					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.N173N(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAACGCCCGTGTTCTGCTTCA	0.507									Alagille Syndrome																																								2	Substitution - coding silent(2)	cervix(2)											131.0	116.0	121.0					20																	10639291		2203	4300	6503	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.519C>T	20.37:g.10639291G>A			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.N173	ENST00000254958.5	37	c.519	CCDS13112.1	20																																																																																			JAG1	-	pfam_DSL,smart_DSL		0.507	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		G	NM_000214		10639291	-1	no_errors	ENST00000254958	ensembl	human	known	70_37	silent	SNP	1.000	A
JAK1	3716	genome.wustl.edu	37	1	65332606	65332606	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:65332606G>A	ENST00000342505.4	-	7	1181	c.933C>T	c.(931-933)ctC>ctT	p.L311L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	311	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.L311L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CTTCGTAGTAGAGAACGTTTC	0.413			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	1	Substitution - coding silent(1)	cervix(1)											165.0	148.0	153.0					1																	65332606		1966	4156	6122	SO:0001819	synonymous_variant	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.933C>T	1.37:g.65332606G>A			Q59GQ2|Q9UD26	Silent	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.L311	ENST00000342505.4	37	c.933	CCDS41346.1	1																																																																																			JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain		0.413	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	G	NM_002227		65332606	-1	no_errors	ENST00000342505	ensembl	human	known	70_37	silent	SNP	0.000	A
JAK2	3717	genome.wustl.edu	37	9	5089755	5089755	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:5089755C>A	ENST00000381652.3	+	20	3147	c.2653C>A	c.(2653-2655)Cag>Aag	p.Q885K	JAK2_ENST00000544510.1_Missense_Mutation_p.Q736K|JAK2_ENST00000539801.1_Missense_Mutation_p.Q885K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	885	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAAAAAGCTTCAGCATAGTAC	0.438		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													134.0	121.0	125.0					9																	5089755		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2653C>A	9.37:g.5089755C>A	ENSP00000371067:p.Gln885Lys		O14636|O75297	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q885K	ENST00000381652.3	37	c.2653	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507178	0.64410	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.80738	-1.41;-1.41;-1.41	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	N	0.01473	-0.845	0.80722	D	1	P	0.47545	0.897	P	0.46076	0.503	T	0.66504	-0.5907	10	0.08599	T	0.76	-8.4586	18.9036	0.92452	0.0:1.0:0.0:0.0	.	885	O60674	JAK2_HUMAN	K	885;885;736	ENSP00000440387:Q885K;ENSP00000371067:Q885K;ENSP00000443103:Q736K	ENSP00000371067:Q885K	Q	+	1	0	JAK2	5079755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.386000	0.79775	2.457000	0.83068	0.650000	0.86243	CAG	JAK2	-	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_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.438	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	C			5089755	+1	no_errors	ENST00000381652	ensembl	human	known	70_37	missense	SNP	1.000	A
KAL1	3730	genome.wustl.edu	37	X	8507779	8507779	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:8507779G>C	ENST00000262648.3	-	10	1524	c.1375C>G	c.(1375-1377)Cat>Gat	p.H459D	KAL1_ENST00000481896.1_5'Flank	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	459	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.H459D(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CACCGCACATGATATCGGTTG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											137.0	101.0	113.0					X																	8507779		2203	4300	6503	SO:0001583	missense	3730				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1375C>G	X.37:g.8507779G>C	ENSP00000262648:p.His459Asp		B2RPF8	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_4-disulphide_core	p.H459D	ENST00000262648.3	37	c.1375	CCDS14130.1	X	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044829	0.36085	.	.	ENSG00000011201	ENST00000262648	T	0.53423	0.62	3.54	3.54	0.40534	Fibronectin, type III (2);	0.114714	0.64402	U	0.000017	T	0.48447	0.1500	M	0.67953	2.075	0.35543	D	0.803211	P	0.34546	0.456	B	0.40659	0.336	T	0.56360	-0.7992	10	0.19590	T	0.45	-19.8419	12.2754	0.54733	0.0:0.0:1.0:0.0	.	459	P23352	KALM_HUMAN	D	459	ENSP00000262648:H459D	ENSP00000262648:H459D	H	-	1	0	KAL1	8467779	1.000000	0.71417	0.069000	0.20011	0.021000	0.10359	5.202000	0.65169	1.517000	0.48917	0.600000	0.82982	CAT	KAL1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAL1	HGNC	protein_coding	OTTHUMT00000055692.1	G	NM_000216		8507779	-1	no_errors	ENST00000262648	ensembl	human	known	70_37	missense	SNP	0.998	C
KAT6B	23522	genome.wustl.edu	37	10	76788623	76788623	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:76788623C>T	ENST00000287239.4	+	18	4530	c.4041C>T	c.(4039-4041)ctC>ctT	p.L1347L	KAT6B_ENST00000372711.1_Silent_p.L1164L|KAT6B_ENST00000372724.1_Silent_p.L1055L|KAT6B_ENST00000372725.1_Silent_p.L1055L|KAT6B_ENST00000372714.1_Silent_p.L1055L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1347					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L1347L(1)									AAGATGATCTCATCAAACCTg	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											49.0	49.0	49.0					10																	76788623		2203	4300	6503	SO:0001819	synonymous_variant	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4041C>T	10.37:g.76788623C>T			O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L1347	ENST00000287239.4	37	c.4041	CCDS7345.1	10																																																																																			KAT6B	-	NULL		0.478	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	C	NM_012330		76788623	+1	no_errors	ENST00000287239	ensembl	human	known	70_37	silent	SNP	0.000	T
KCNA1	3736	genome.wustl.edu	37	12	5020588	5020588	+	Missense_Mutation	SNP	C	C	T	rs543311674	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:5020588C>T	ENST00000382545.3	+	2	1151	c.44C>T	c.(43-45)gCc>gTc	p.A15V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	15					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.A15V(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GCTTCGGCCGCCCCGGGCCAC	0.711													C|||	2	0.000399361	0.0	0.0	5008	,	,		11500	0.001		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	cervix(1)											18.0	21.0	20.0					12																	5020588		2192	4288	6480	SO:0001583	missense	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.44C>T	12.37:g.5020588C>T	ENSP00000371985:p.Ala15Val		A6NM83|Q3MIQ9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.A15V	ENST00000382545.3	37	c.44	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	C	7.028	0.560064	0.13498	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96073	-3.9	3.73	3.73	0.42828	.	0.790684	0.11879	N	0.520666	D	0.84629	0.5514	N	0.02802	-0.49	0.22541	N	0.999003	B	0.02656	0.0	B	0.01281	0.0	T	0.73871	-0.3846	10	0.16420	T	0.52	.	5.4035	0.16308	0.0:0.7633:0.0:0.2367	.	15	Q09470	KCNA1_HUMAN	V	15	ENSP00000371985:A15V	ENSP00000228858:A15V	A	+	2	0	KCNA1	4890849	0.895000	0.30542	0.997000	0.53966	0.995000	0.86356	2.408000	0.44574	2.093000	0.63338	0.555000	0.69702	GCC	KCNA1	-	NULL		0.711	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	C	NM_000217		5020588	+1	no_errors	ENST00000382545	ensembl	human	known	70_37	missense	SNP	0.627	T
KCNC1	3746	genome.wustl.edu	37	11	17793718	17793718	+	Silent	SNP	C	C	T	rs551647578		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:17793718C>T	ENST00000379472.3	+	2	1107	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	KCNC1_ENST00000265969.6_Silent_p.F359F	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	359					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.F359F(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	TGCTGATCTTCGCCACCATGA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		19529	0.0		0.0	False		,,,				2504	0.001																2	Substitution - coding silent(2)	cervix(2)											49.0	46.0	47.0					11																	17793718		2200	4293	6493	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1077C>T	11.37:g.17793718C>T			K4DI87	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.F359	ENST00000379472.3	37	c.1077	CCDS7827.1	11																																																																																			KCNC1	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.607	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	C	NM_004976		17793718	+1	no_errors	ENST00000265969	ensembl	human	known	70_37	silent	SNP	0.992	T
KCNJ14	3770	genome.wustl.edu	37	19	48967909	48967909	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:48967909C>G	ENST00000391884.1	+	2	1662	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V	CTC-273B12.5_ENST00000593476.1_RNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.L396V|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000600650.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	396					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.L396V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	TGAACTTGCTCTGAGCTGCTG	0.542																																					NSCLC(148;170 3504 35216)												1	Substitution - Missense(1)	cervix(1)											70.0	72.0	71.0					19																	48967909		2203	4300	6503	SO:0001583	missense	3770			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1186C>G	19.37:g.48967909C>G	ENSP00000375756:p.Leu396Val			Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	p.L396V	ENST00000391884.1	37	c.1186	CCDS12721.1	19	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512556	0.85389	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.90261	-2.64;-2.64	5.24	5.24	0.73138	.	0.175050	0.38058	N	0.001838	D	0.91971	0.7457	L	0.58101	1.795	0.53688	D	0.99997	P	0.45986	0.87	P	0.51055	0.657	D	0.91048	0.4876	10	0.41790	T	0.15	.	17.1398	0.86749	0.0:1.0:0.0:0.0	.	396	Q9UNX9	IRK14_HUMAN	V	396	ENSP00000341479:L396V;ENSP00000375756:L396V	ENSP00000341479:L396V	L	+	1	2	KCNJ14	53659721	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	4.060000	0.57477	2.837000	0.97791	0.655000	0.94253	CTG	KCNJ14	-	pirsf_K_chnl_inward-rec_Kir		0.542	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ14	HGNC	protein_coding	OTTHUMT00000466127.1	C	NM_013348		48967909	+1	no_errors	ENST00000342291	ensembl	human	known	70_37	missense	SNP	1.000	G
KCNN3	3782	genome.wustl.edu	37	1	154744507	154744507	+	Silent	SNP	G	G	A	rs367863664		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:154744507G>A	ENST00000271915.4	-	3	1707	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	KCNN3_ENST00000361147.4_Silent_p.L159L|KCNN3_ENST00000358505.2_Silent_p.L151L	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	469					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.L464L(1)|p.L159L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TGCTGAACACGAGCAGCACAG	0.557																																																	2	Substitution - coding silent(2)	cervix(2)						G	,,	1,4405	2.1+/-5.4	0,1,2202	132.0	101.0	111.0		1392,1392,477	-9.3	0.2	1		111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNN3	NM_001204087.1,NM_002249.5,NM_170782.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	464/747,464/732,159/427	154744507	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1392C>T	1.37:g.154744507G>A			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.L464	ENST00000271915.4	37	c.1392	CCDS30880.1	1																																																																																			KCNN3	-	NULL		0.557	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	G	NM_002249		154744507	-1	no_errors	ENST00000271915	ensembl	human	known	70_37	silent	SNP	0.065	A
KCNQ2	3785	genome.wustl.edu	37	20	62071057	62071057	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:62071057G>A	ENST00000359125.2	-	6	995	c.821C>T	c.(820-822)aCg>aTg	p.T274M	KCNQ2_ENST00000344425.5_Missense_Mutation_p.T274M|KCNQ2_ENST00000360480.3_Missense_Mutation_p.T274M|KCNQ2_ENST00000354587.3_Missense_Mutation_p.T274M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.T274M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.T274M|KCNQ2_ENST00000344462.4_Missense_Mutation_p.T274M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.T274M	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	274					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.T274M(3)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGTGGTCAGCGTGATCTGTGG	0.647																																																	3	Substitution - Missense(3)	cervix(2)|upper_aerodigestive_tract(1)											187.0	135.0	152.0					20																	62071057		2203	4300	6503	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.821C>T	20.37:g.62071057G>A	ENSP00000352035:p.Thr274Met		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.T274M	ENST00000359125.2	37	c.821	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087530	0.76642	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	4.01	4.01	0.46588	Ion transport (1);	0.061322	0.64402	D	0.000005	D	0.99507	0.9824	H	0.98525	4.255	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	0.91635	0.998;0.999;0.983;0.983;0.983;0.99	D	0.97777	1.0230	10	0.87932	D	0	-9.3763	16.4798	0.84155	0.0:0.0:1.0:0.0	.	274;274;274;274;274;274	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	M	274	ENSP00000349789:T274M;ENSP00000352035:T274M;ENSP00000359246:T274M;ENSP00000346601:T274M;ENSP00000352718:T274M;ENSP00000399612:T274M;ENSP00000353668:T274M;ENSP00000339611:T274M;ENSP00000359244:T274M;ENSP00000359242:T274M;ENSP00000359241:T274M;ENSP00000345523:T274M	ENSP00000345523:T274M	T	-	2	0	KCNQ2	61541501	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.672000	0.83956	1.908000	0.55244	0.561000	0.74099	ACG	KCNQ2	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.647	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	G	NM_172109		62071057	-1	no_errors	ENST00000354587	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNU1	157855	genome.wustl.edu	37	8	36766906	36766906	+	Silent	SNP	G	G	C	rs368283762	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:36766906G>C	ENST00000399881.3	+	21	2221	c.2184G>C	c.(2182-2184)ccG>ccC	p.P728P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P728P(5)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468																																																	5	Substitution - coding silent(5)	cervix(2)|lung(2)|prostate(1)											228.0	221.0	223.0					8																	36766906		1863	4108	5971	SO:0001819	synonymous_variant	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2184G>C	8.37:g.36766906G>C				Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.P728	ENST00000399881.3	37	c.2184	CCDS55220.1	8																																																																																			KCNU1	-	NULL		0.468	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	G	NM_001031836		36766906	+1	no_errors	ENST00000399881	ensembl	human	known	70_37	silent	SNP	0.987	C
KDM3B	51780	genome.wustl.edu	37	5	137754897	137754897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:137754897C>T	ENST00000314358.5	+	14	3891	c.3691C>T	c.(3691-3693)Cag>Tag	p.Q1231*	KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Nonsense_Mutation_p.Q887*|KDM3B_ENST00000542866.1_Nonsense_Mutation_p.Q263*	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1231					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.Q1231*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTTAGCAACTCAGAAGGCTAA	0.483																																																	1	Substitution - Nonsense(1)	cervix(1)											57.0	60.0	59.0					5																	137754897		2203	4300	6503	SO:0001587	stop_gained	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3691C>T	5.37:g.137754897C>T	ENSP00000326563:p.Gln1231*		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Nonsense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.Q1231*	ENST00000314358.5	37	c.3691	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	C	40	7.926990	0.98565	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-12.3089	19.679	0.95950	0.0:1.0:0.0:0.0	.	.	.	.	X	1231;1021;887;263	.	ENSP00000326563:Q1231X	Q	+	1	0	KDM3B	137782796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.705000	0.68355	2.665000	0.90641	0.650000	0.86243	CAG	KDM3B	-	NULL		0.483	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	C	NM_016604		137754897	+1	no_errors	ENST00000314358	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KDM5A	5927	genome.wustl.edu	37	12	463316	463316	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:463316G>C	ENST00000399788.2	-	8	1317	c.955C>G	c.(955-957)Cat>Gat	p.H319D	KDM5A_ENST00000382815.4_Missense_Mutation_p.H319D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	319					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.H319D(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAAAATGTATGATAGCTGTCA	0.403			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	2	Substitution - Missense(2)	cervix(2)											144.0	138.0	140.0					12																	463316		1929	4139	6068	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.955C>G	12.37:g.463316G>C	ENSP00000382688:p.His319Asp		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.H319D	ENST00000399788.2	37	c.955	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841355	0.91197	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.99005	-5.32;-5.32	5.1	5.1	0.69264	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.98333	4.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97453	1.0029	10	0.87932	D	0	-15.284	18.8719	0.92319	0.0:0.0:1.0:0.0	.	319;319;319	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	D	278;319;319	ENSP00000382688:H319D;ENSP00000372265:H319D	ENSP00000372265:H319D	H	-	1	0	KDM5A	333577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.751000	0.98889	2.530000	0.85305	0.467000	0.42956	CAT	KDM5A	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.403	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056		463316	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	C
KDM5A	5927	genome.wustl.edu	37	12	464397	464397	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:464397C>T	ENST00000399788.2	-	7	1159	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.R266Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	266					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R266Q(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GGTAACTTTTCGTCTTCGGGT	0.373			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	2	Substitution - Missense(2)	cervix(2)											125.0	118.0	120.0					12																	464397		1866	4093	5959	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.797G>A	12.37:g.464397C>T	ENSP00000382688:p.Arg266Gln		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R266Q	ENST00000399788.2	37	c.797	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354947	0.41700	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.84660	-1.88;-1.69	5.49	5.49	0.81192	.	0.248880	0.34906	N	0.003599	T	0.77711	0.4171	N	0.22421	0.69	0.43598	D	0.995956	B;B;B	0.20052	0.033;0.024;0.041	B;B;B	0.14578	0.006;0.011;0.011	T	0.70651	-0.4813	10	0.19147	T	0.46	-8.7299	19.9135	0.97033	0.0:1.0:0.0:0.0	.	266;266;266	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	Q	225;266;266	ENSP00000382688:R266Q;ENSP00000372265:R266Q	ENSP00000372265:R266Q	R	-	2	0	KDM5A	334658	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.827000	0.55745	2.779000	0.95612	0.573000	0.79308	CGA	KDM5A	-	NULL		0.373	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	C	NM_005056		464397	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA0020	9933	genome.wustl.edu	37	9	2837402	2837402	+	Splice_Site	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:2837402C>G	ENST00000397885.2	-	3	289		c.e3-1			NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GAACCAGAATCTAGTGACAAT	0.318																																																	1	Unknown(1)	cervix(1)											77.0	65.0	69.0					9																	2837402		1803	4069	5872	SO:0001630	splice_region_variant	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.83-1G>C	9.37:g.2837402C>G			A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Splice_Site	SNP	-	e2-1	ENST00000397885.2	37	c.83-1	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595380	0.28445	.	.	ENSG00000080608	ENST00000397885	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6428	0.45602	0.0:0.9112:0.0:0.0888	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0020	2827402	1.000000	0.71417	0.997000	0.53966	0.431000	0.31685	3.282000	0.51693	2.528000	0.85240	0.655000	0.94253	.	KIAA0020	-	-		0.318	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	C	NM_014878	Intron	2837402	-1	no_errors	ENST00000397885	ensembl	human	known	70_37	splice_site	SNP	1.000	G
SPIDR	23514	genome.wustl.edu	37	8	48309015	48309015	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:48309015C>G	ENST00000297423.4	+	6	989	c.605C>G	c.(604-606)tCa>tGa	p.S202*	SPIDR_ENST00000541342.1_Nonsense_Mutation_p.S132*|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Nonsense_Mutation_p.S142*	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	202	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.S202*(1)									CTCATTGATTCAGAATCCCCT	0.348																																																	1	Substitution - Nonsense(1)	cervix(1)											100.0	95.0	97.0					8																	48309015		1875	4101	5976	SO:0001587	stop_gained	23514			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.605C>G	8.37:g.48309015C>G	ENSP00000297423:p.Ser202*		B4DFV2|B4E0Y6|Q96BI5	Nonsense_Mutation	SNP	NULL	p.S202*	ENST00000297423.4	37	c.605	CCDS43737.1	8	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912297	0.92178	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342	.	.	.	5.69	4.63	0.57726	.	0.319165	0.23060	N	0.052383	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	8.8955	0.35460	0.0:0.8473:0.0:0.1527	.	.	.	.	X	202;142;132	.	ENSP00000297423:S202X	S	+	2	0	KIAA0146	48471568	0.998000	0.40836	1.000000	0.80357	0.800000	0.45204	0.894000	0.28350	2.684000	0.91462	0.650000	0.86243	TCA	KIAA0146	-	NULL		0.348	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0146	HGNC	protein_coding	OTTHUMT00000377611.1	C	NM_001080394		48309015	+1	no_errors	ENST00000297423	ensembl	human	known	70_37	nonsense	SNP	0.974	G
KIAA0196	9897	genome.wustl.edu	37	8	126051122	126051122	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:126051122C>G	ENST00000318410.7	-	25	3383	c.3034G>C	c.(3034-3036)Gaa>Caa	p.E1012Q	KIAA0196_ENST00000517845.1_Missense_Mutation_p.E864Q|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1012					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)		p.E1012Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCTGTGATTTCATATAAAAGT	0.438																																																	1	Substitution - Missense(1)	cervix(1)											140.0	141.0	141.0					8																	126051122		2203	4300	6503	SO:0001583	missense	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3034G>C	8.37:g.126051122C>G	ENSP00000318016:p.Glu1012Gln		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.E1012Q	ENST00000318410.7	37	c.3034	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.926782|4.926782	0.92319|0.92319	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86297|.	-2.1;-2.1|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.091197|.	0.85682|.	D|.	0.000000|.	D|D	0.83562|0.83562	0.5281|0.5281	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D;P|.	0.58620|.	0.983;0.503|.	P;B|.	0.59288|.	0.855;0.291|.	D|D	0.83792|0.83792	0.0231|0.0231	10|5	0.56958|.	D|.	0.05|.	-21.9114|-21.9114	20.3207|20.3207	0.98668|0.98668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	864;1012|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	Q|I	1012;864|628	ENSP00000318016:E1012Q;ENSP00000429676:E864Q|.	ENSP00000318016:E1012Q|.	E|M	-|-	1|3	0|0	KIAA0196|KIAA0196	126120304|126120304	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.814000|7.814000	0.86154|0.86154	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAA|ATG	KIAA0196	-	pfam_WASH_strumpellin		0.438	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	C	NM_014846		126051122	-1	no_errors	ENST00000318410	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA0226L	80183	genome.wustl.edu	37	13	46935611	46935611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:46935611G>A	ENST00000429979.1	-	8	1688	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	KIAA0226L_ENST00000389908.3_Nonsense_Mutation_p.Q362*|KIAA0226L_ENST00000378784.4_Nonsense_Mutation_p.Q295*|KIAA0226L_ENST00000378797.2_Nonsense_Mutation_p.Q362*|KIAA0226L_ENST00000322896.6_Nonsense_Mutation_p.Q205*|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000534925.1_Nonsense_Mutation_p.Q227*|KIAA0226L_ENST00000409879.2_Nonsense_Mutation_p.Q205*|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.Q362*	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	362								p.Q362*(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CCTGCCAGCTGAGAATTAACT	0.438																																																	1	Substitution - Nonsense(1)	cervix(1)											80.0	73.0	75.0					13																	46935611		2203	4300	6503	SO:0001587	stop_gained	80183			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1084C>T	13.37:g.46935611G>A	ENSP00000396935:p.Gln362*		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Nonsense_Mutation	SNP	NULL	p.Q362*	ENST00000429979.1	37	c.1084	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452196	0.84209	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	.	.	.	5.5	5.5	0.81552	.	0.089181	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-6.4851	16.9164	0.86153	0.0:0.0:1.0:0.0	.	.	.	.	X	362;362;295;362;362;205;205;227	.	ENSP00000315633:Q205X	Q	-	1	0	KIAA0226L	45833612	0.997000	0.39634	0.893000	0.35052	0.245000	0.25701	5.355000	0.66046	2.743000	0.94032	0.643000	0.83706	CAG	KIAA0226L	-	NULL		0.438	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	G	NM_025113		46935611	-1	no_errors	ENST00000389908	ensembl	human	known	70_37	nonsense	SNP	0.985	A
GLTSCR1L	23506	genome.wustl.edu	37	6	42819892	42819892	+	Silent	SNP	G	G	C	rs200632198		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:42819892G>C	ENST00000314073.5	+	7	2078	c.1902G>C	c.(1900-1902)ctG>ctC	p.L634L	GLTSCR1L_ENST00000394168.1_Silent_p.L634L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	634								p.L634L(1)									CAGACGGCCTGAGGCAAGCAC	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											95.0	82.0	86.0					6																	42819892		2203	4300	6503	SO:0001819	synonymous_variant	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1902G>C	6.37:g.42819892G>C			A1L3W2|Q5TFZ3|Q92514	Silent	SNP	NULL	p.L634	ENST00000314073.5	37	c.1902	CCDS34451.1	6																																																																																			KIAA0240	-	NULL		0.498	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	G	NM_015349		42819892	+1	no_errors	ENST00000314073	ensembl	human	known	70_37	silent	SNP	1.000	C
KIAA0368	23392	genome.wustl.edu	37	9	114172371	114172371	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:114172371G>A	ENST00000338205.5	-	22	2719	c.2500C>T	c.(2500-2502)Ctt>Ttt	p.L834F	KIAA0368_ENST00000374378.3_5'Flank|RNA5SP294_ENST00000411306.1_RNA|KIAA0368_ENST00000259335.4_Missense_Mutation_p.L1012F			Q5VYK3	ECM29_HUMAN	KIAA0368	840					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.L1012F(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTTTCTACAAGATGCAATTTG	0.423																																																	1	Substitution - Missense(1)	cervix(1)											38.0	37.0	38.0					9																	114172371		1838	4090	5928	SO:0001583	missense	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2500C>T	9.37:g.114172371G>A	ENSP00000339889:p.Leu834Phe		O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L1012F	ENST00000338205.5	37	c.3034		9	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806332	0.50421	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.69435	-0.4	6.16	6.16	0.99307	.	0.137255	0.49916	D	0.000129	T	0.67924	0.2945	M	0.64997	1.995	0.80722	D	1	B	0.24368	0.102	B	0.22601	0.04	T	0.61332	-0.7084	10	0.39692	T	0.17	-15.8929	20.8598	0.99761	0.0:0.0:1.0:0.0	.	309	B3KXF2	.	F	834;1012;309	ENSP00000259335:L1012F	ENSP00000259335:L1012F	L	-	1	0	KIAA0368	113212192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.974000	0.56852	2.937000	0.99478	0.650000	0.86243	CTT	KIAA0368	-	superfamily_ARM-type_fold		0.423	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	G	NM_014686		114172371	-1	no_errors	ENST00000259335	ensembl	human	known	70_37	missense	SNP	1.000	A
CLUH	23277	genome.wustl.edu	37	17	2596110	2596110	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:2596110C>G	ENST00000570628.2	-	20	3264	c.3159G>C	c.(3157-3159)gtG>gtC	p.V1053V	CLUH_ENST00000435359.1_Silent_p.V1053V|CLUH_ENST00000538975.1_Silent_p.V1053V			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1053					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.V1054V(2)									CGGTGCCCATCACCCGCTCGC	0.692																																																	2	Substitution - coding silent(2)	cervix(2)											45.0	51.0	49.0					17																	2596110		2116	4213	6329	SO:0001819	synonymous_variant	23277			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3159G>C	17.37:g.2596110C>G			Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	superfamily_GSKIP/TIF31_domain	p.V1053	ENST00000570628.2	37	c.3159	CCDS45572.1	17																																																																																			KIAA0664	-	NULL		0.692	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0664	HGNC	protein_coding	OTTHUMT00000437807.2	C	NM_015229		2596110	-1	no_errors	ENST00000435359	ensembl	human	known	70_37	silent	SNP	0.999	G
KIAA0922	23240	genome.wustl.edu	37	4	154533509	154533509	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:154533509G>A	ENST00000409663.3	+	26	3573	c.3521G>A	c.(3520-3522)aGa>aAa	p.R1174K	KIAA0922_ENST00000409959.3_Missense_Mutation_p.R1175K|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1091K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1174						integral component of membrane (GO:0016021)		p.R1027K(1)|p.R1175K(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAAACATCTAGAGAAGACATG	0.343																																																	2	Substitution - Missense(2)	cervix(2)											72.0	73.0	73.0					4																	154533509		2203	4299	6502	SO:0001583	missense	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3521G>A	4.37:g.154533509G>A	ENSP00000386574:p.Arg1174Lys		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.R1175K	ENST00000409663.3	37	c.3524	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	G	1.074	-0.668897	0.03403	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.14144	2.79;2.54;2.79;2.53	5.48	1.69	0.24217	.	0.714243	0.14465	N	0.317941	T	0.02970	0.0088	N	0.00926	-1.1	0.23156	N	0.998206	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.43572	-0.9383	10	0.02654	T	1	-7.1364	4.7494	0.13054	0.6523:0.1657:0.1821:0.0	.	1091;1175;1174	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	K	1174;1091;1175;952	ENSP00000386574:R1174K;ENSP00000409663:R1091K;ENSP00000386787:R1175K;ENSP00000240487:R952K	ENSP00000240487:R952K	R	+	2	0	KIAA0922	154752959	1.000000	0.71417	0.743000	0.31040	0.832000	0.47134	2.451000	0.44952	0.055000	0.16094	-0.391000	0.06502	AGA	KIAA0922	-	NULL		0.343	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	G	NM_015196		154533509	+1	no_errors	ENST00000409959	ensembl	human	known	70_37	missense	SNP	0.966	A
ICE1	23379	genome.wustl.edu	37	5	5457444	5457444	+	Splice_Site	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:5457444G>C	ENST00000296564.7	+	12	913		c.e12-1			NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN							positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.?(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCCCCACATAGAAAAACCTGC	0.418																																																	2	Unknown(2)	cervix(2)											34.0	33.0	33.0					5																	5457444		1935	4147	6082	SO:0001630	splice_region_variant	23379																														ENST00000296564.7:c.692-1G>C	5.37:g.5457444G>C			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Splice_Site	SNP	-	e12-1	ENST00000296564.7	37	c.692-1	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264667	0.23136	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.129	0.65240	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0947	5510444	1.000000	0.71417	0.901000	0.35422	0.095000	0.18619	2.532000	0.45659	2.405000	0.81733	0.555000	0.69702	.	KIAA0947	-	-		0.418	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G		Intron	5457444	+1	no_errors	ENST00000296564	ensembl	human	known	70_37	splice_site	SNP	0.999	C
RIC1	57589	genome.wustl.edu	37	9	5774025	5774025	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:5774025G>C	ENST00000414202.2	+	26	4242	c.4051G>C	c.(4051-4053)Gag>Cag	p.E1351Q	KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1235Q|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1272Q	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.E1272Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATAACAGAAGAGCAGGTCCA	0.478																																																	1	Substitution - Missense(1)	cervix(1)											80.0	75.0	77.0					9																	5774025		2203	4300	6503	SO:0001583	missense	57589																														ENST00000414202.2:c.4051G>C	9.37:g.5774025G>C	ENSP00000416696:p.Glu1351Gln			Missense_Mutation	SNP	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.E1272Q	ENST00000414202.2	37	c.3814	CCDS34982.2	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.96|13.96	2.391891|2.391891	0.42410|0.42410	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.94|5.94	5.04|5.04	0.67666|0.67666	.|.	0.047357|.	0.85682|.	D|.	0.000000|.	T|T	0.73361|0.73361	0.3577|0.3577	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	B;B|.	0.22346|.	0.068;0.068|.	B;B|.	0.21708|.	0.036;0.036|.	T|T	0.73036|0.73036	-0.4109|-0.4109	9|5	0.17369|.	T|.	0.5|.	-18.3632|-18.3632	17.2277|17.2277	0.86975|0.86975	0.0:0.1258:0.8742:0.0|0.0:0.1258:0.8742:0.0	.|.	1235;1351|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	Q|T	1351;1272;1235|1242	.|.	ENSP00000416696:E1351Q|.	E|R	+|+	1|2	0|0	KIAA1432|KIAA1432	5764025|5764025	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.849000|0.849000	0.48306|0.48306	6.196000|6.196000	0.72094|0.72094	1.504000|1.504000	0.48704|0.48704	0.561000|0.561000	0.74099|0.74099	GAG|AGA	KIAA1432	-	NULL		0.478	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	HGNC	protein_coding	OTTHUMT00000051636.3	G			5774025	+1	no_errors	ENST00000418622	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA2022	340533	genome.wustl.edu	37	X	73959275	73959275	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:73959275C>G	ENST00000055682.6	-	4	5127	c.4516G>C	c.(4516-4518)Gaa>Caa	p.E1506Q		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1506					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.E1506Q(1)|p.E1506K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCTCTTCTTCAAACACAGGT	0.343																																																	2	Substitution - Missense(2)	cervix(1)|breast(1)											73.0	65.0	67.0					X																	73959275		2202	4300	6502	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4516G>C	X.37:g.73959275C>G	ENSP00000055682:p.Glu1506Gln		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.E1506Q	ENST00000055682.6	37	c.4516	CCDS35337.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.758875|2.758875	0.49468|0.49468	.|.	.|.	ENSG00000050030|ENSG00000050030	ENST00000373468;ENST00000055682|ENST00000424929	T;T|.	0.39787|.	1.06;1.06|.	5.28|5.28	4.4|4.4	0.53042|0.53042	.|.	0.319263|.	0.34411|.	N|.	0.003994|.	T|.	0.47021|.	0.1423|.	L|L	0.29908|0.29908	0.895|0.895	0.34770|0.34770	D|D	0.733596|0.733596	D|.	0.57257|.	0.979|.	P|.	0.56563|.	0.801|.	T|.	0.56366|.	-0.7991|.	10|.	0.72032|.	D|.	0.01|.	-17.3847|-17.3847	11.7535|11.7535	0.51862|0.51862	0.0:0.9141:0.0:0.0859|0.0:0.9141:0.0:0.0859	.|.	1506|.	Q5QGS0|.	K2022_HUMAN|.	Q|S	1506|107	ENSP00000362567:E1506Q;ENSP00000055682:E1506Q|.	ENSP00000055682:E1506Q|.	E|X	-|-	1|2	0|2	KIAA2022|KIAA2022	73876000|73876000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.416000|3.416000	0.52707|0.52707	2.178000|2.178000	0.69098|0.69098	0.600000|0.600000	0.82982|0.82982	GAA|TGA	KIAA2022	-	NULL		0.343	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	C	NM_001008537		73959275	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF15	56992	genome.wustl.edu	37	3	44826351	44826351	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:44826351G>C	ENST00000326047.4	+	6	525	c.376G>C	c.(376-378)Gat>Cat	p.D126H		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	126	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D126H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ATCTGAATCTGATAATTTTTC	0.279																																																	1	Substitution - Missense(1)	cervix(1)											36.0	38.0	38.0					3																	44826351		2203	4292	6495	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.376G>C	3.37:g.44826351G>C	ENSP00000324020:p.Asp126His		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.D126H	ENST00000326047.4	37	c.376	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709718	0.89018	.	.	ENSG00000163808	ENST00000326047;ENST00000396031	T	0.72725	-0.68	5.65	5.65	0.86999	Kinesin, motor domain (4);	0.000000	0.51477	D	0.000089	D	0.83885	0.5351	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84305	0.0507	10	0.62326	D	0.03	.	19.7238	0.96153	0.0:0.0:1.0:0.0	.	126	Q9NS87	KIF15_HUMAN	H	126;125	ENSP00000324020:D126H	ENSP00000324020:D126H	D	+	1	0	KIF15	44801355	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.649000	0.89929	0.561000	0.74099	GAT	KIF15	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.279	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	G			44826351	+1	no_errors	ENST00000326047	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF16B	55614	genome.wustl.edu	37	20	16354918	16354918	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:16354918G>A	ENST00000354981.2	-	20	3491	c.3334C>T	c.(3334-3336)Ccc>Tcc	p.P1112S	KIF16B_ENST00000408042.1_Missense_Mutation_p.P1112S|KIF16B_ENST00000378003.2_Missense_Mutation_p.P338S|KIF16B_ENST00000355755.3_Missense_Mutation_p.P1112S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1112					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.P1112S(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCCATGAGGGGAACCAGGTGT	0.458																																																	2	Substitution - Missense(2)	cervix(2)											103.0	90.0	94.0					20																	16354918		2203	4300	6503	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3334C>T	20.37:g.16354918G>A	ENSP00000347076:p.Pro1112Ser		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	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.P1112S	ENST00000354981.2	37	c.3334	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801713	0.50315	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.73258	-0.49;-0.53;2.38;-0.73	5.57	3.61	0.41365	.	0.313937	0.34338	N	0.004050	T	0.57607	0.2065	L	0.44542	1.39	0.19775	N	0.999952	P;P	0.51537	0.946;0.78	P;B	0.44561	0.453;0.197	T	0.51004	-0.8760	10	0.07482	T	0.82	.	7.6798	0.28507	0.0747:0.0:0.6336:0.2917	.	1112;1112	Q96L93-2;Q96L93	.;KI16B_HUMAN	S	1112;1112;956;338;1112	ENSP00000347076:P1112S;ENSP00000347995:P1112S;ENSP00000367242:P338S;ENSP00000384164:P1112S	ENSP00000347076:P1112S	P	-	1	0	KIF16B	16302918	0.999000	0.42202	0.197000	0.23402	0.462000	0.32619	3.221000	0.51215	0.705000	0.31890	-0.183000	0.12914	CCC	KIF16B	-	NULL		0.458	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	G	NM_017683		16354918	-1	no_errors	ENST00000408042	ensembl	human	known	70_37	missense	SNP	0.264	A
KIF21A	55605	genome.wustl.edu	37	12	39760894	39760894	+	Missense_Mutation	SNP	G	G	A	rs567275114		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:39760894G>A	ENST00000361418.5	-	5	688	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	KIF21A_ENST00000544797.2_Missense_Mutation_p.R225C|KIF21A_ENST00000541463.2_Missense_Mutation_p.R225C|KIF21A_ENST00000395670.3_Missense_Mutation_p.R225C|KIF21A_ENST00000361961.3_Missense_Mutation_p.R225C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	225	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)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R225C(1)		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)				GCATGTGAACGAGAGCTCTGA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		18178	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	cervix(1)											138.0	123.0	128.0					12																	39760894		2203	4300	6503	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.673C>T	12.37:g.39760894G>A	ENSP00000354878:p.Arg225Cys		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.R225C	ENST00000361418.5	37	c.673	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.105969	0.94292	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.33	5.33	0.75918	Kinesin, motor domain (5);	0.000000	0.53938	D	0.000047	D	0.95947	0.8680	H	0.95982	3.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0	D	0.97192	0.9858	10	0.87932	D	0	.	19.0298	0.92952	0.0:0.0:1.0:0.0	.	225;225;225;225;225	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	C	225;225;225;225;225;225;48	ENSP00000354851:R225C;ENSP00000379029:R225C;ENSP00000445606:R225C;ENSP00000354878:R225C;ENSP00000438075:R225C;ENSP00000449700:R48C	ENSP00000344501:R225C	R	-	1	0	KIF21A	38047161	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.451000	0.80668	2.498000	0.84270	0.655000	0.94253	CGT	KIF21A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	G	NM_017641		39760894	-1	no_errors	ENST00000395670	ensembl	human	known	70_37	missense	SNP	1.000	A
KIRREL	55243	genome.wustl.edu	37	1	158063415	158063415	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:158063415C>T	ENST00000359209.6	+	13	1649	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	KIRREL_ENST00000360089.4_Missense_Mutation_p.R364C|KIRREL_ENST00000368173.3_Missense_Mutation_p.R544C|KIRREL_ENST00000416935.2_Missense_Mutation_p.R428C|KIRREL_ENST00000368172.1_Missense_Mutation_p.R342C|KIRREL_ENST00000392272.2_Missense_Mutation_p.R425C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	528					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.R528C(1)|p.R544C(1)|p.R364C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGTCCCAGGTCGCAAAGACGT	0.607																																																	3	Substitution - Missense(3)	cervix(3)											75.0	67.0	69.0					1																	158063415		2203	4300	6503	SO:0001583	missense	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1582C>T	1.37:g.158063415C>T	ENSP00000352138:p.Arg528Cys		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R544C	ENST00000359209.6	37	c.1630	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972223	0.74246	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.71341	0.38;-0.56;0.05;-0.19;-0.12;0.24	5.74	5.74	0.90152	.	0.000000	0.42172	D	0.000742	T	0.77157	0.4089	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.66602	0.927;0.945;0.925;0.925	T	0.78401	-0.2218	10	0.66056	D	0.02	-23.3055	17.4077	0.87477	0.0:1.0:0.0:0.0	.	428;364;342;528	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	C	364;544;425;528;428;342	ENSP00000353202:R364C;ENSP00000357155:R544C;ENSP00000376098:R425C;ENSP00000352138:R528C;ENSP00000389674:R428C;ENSP00000357154:R342C	ENSP00000352138:R528C	R	+	1	0	KIRREL	156330039	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	7.229000	0.78088	2.704000	0.92352	0.491000	0.48974	CGC	KIRREL	-	NULL		0.607	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	C	NM_018240		158063415	+1	no_errors	ENST00000368173	ensembl	human	known	70_37	missense	SNP	1.000	T
KLF10	7071	genome.wustl.edu	37	8	103664550	103664550	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:103664550C>T	ENST00000285407.6	-	2	412	c.112G>A	c.(112-114)Gat>Aat	p.D38N	KLF10_ENST00000395884.3_Missense_Mutation_p.D27N	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	38					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D38N(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GCTTCAAAATCACTTTTCTCT	0.358																																					Esophageal Squamous(16;495 519 2144 16528 44005)												1	Substitution - Missense(1)	cervix(1)											142.0	141.0	141.0					8																	103664550		2203	4300	6503	SO:0001583	missense	7071			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.112G>A	8.37:g.103664550C>T	ENSP00000285407:p.Asp38Asn		A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D38N	ENST00000285407.6	37	c.112	CCDS6294.1	8	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858878	0.91433	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.59772	0.24;0.34	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	M	0.73962	2.25	0.58432	D	0.999992	D;D	0.56521	0.976;0.976	P;P	0.45538	0.484;0.484	T	0.68584	-0.5370	10	0.87932	D	0	.	13.6832	0.62499	0.0:0.9299:0.0:0.0701	.	38;27	Q13118;O75411	KLF10_HUMAN;.	N	38;27	ENSP00000285407:D38N;ENSP00000379222:D27N	ENSP00000285407:D38N	D	-	1	0	KLF10	103733726	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.346000	0.65992	2.861000	0.98227	0.650000	0.86243	GAT	KLF10	-	NULL		0.358	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF10	HGNC	protein_coding	OTTHUMT00000379967.1	C			103664550	-1	no_errors	ENST00000285407	ensembl	human	known	70_37	missense	SNP	1.000	T
KLHL13	90293	genome.wustl.edu	37	X	117053561	117053561	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:117053561G>C	ENST00000262820.3	-	4	1402	c.493C>G	c.(493-495)Caa>Gaa	p.Q165E	KLHL13_ENST00000371882.1_Missense_Mutation_p.Q114E|KLHL13_ENST00000545703.1_Missense_Mutation_p.Q123E|KLHL13_ENST00000539496.1_Missense_Mutation_p.Q168E|KLHL13_ENST00000540167.1_Missense_Mutation_p.Q149E|KLHL13_ENST00000371876.1_Missense_Mutation_p.Q114E|KLHL13_ENST00000541812.1_Missense_Mutation_p.Q149E|KLHL13_ENST00000371878.1_Missense_Mutation_p.Q114E|KLHL13_ENST00000469946.1_Missense_Mutation_p.Q114E	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	165					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.Q165E(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCGTGTCTTGAAGGTTGTCC	0.363																																																	1	Substitution - Missense(1)	cervix(1)											73.0	78.0	76.0					X																	117053561		2203	4300	6503	SO:0001583	missense	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.493C>G	X.37:g.117053561G>C	ENSP00000262820:p.Gln165Glu		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Q168E	ENST00000262820.3	37	c.502	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127828	0.20959	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.07	3.29	0.37713	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.115400	0.64402	D	0.000013	T	0.46756	0.1409	L	0.41236	1.265	0.49798	D	0.999827	B;B;B;B	0.32203	0.034;0.36;0.019;0.043	B;B;B;B	0.26416	0.028;0.069;0.028;0.048	T	0.26326	-1.0106	10	0.25751	T	0.34	.	9.1343	0.36863	0.0779:0.0:0.7755:0.1466	.	149;168;159;165	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	E	114;114;114;114;149;149;168;165;123;114	ENSP00000360949:Q114E;ENSP00000360943:Q114E;ENSP00000360945:Q114E;ENSP00000412640:Q114E;ENSP00000444450:Q149E;ENSP00000441029:Q149E;ENSP00000443191:Q168E;ENSP00000262820:Q165E;ENSP00000440707:Q123E;ENSP00000419803:Q114E	ENSP00000262820:Q165E	Q	-	1	0	KLHL13	116937589	1.000000	0.71417	0.997000	0.53966	0.006000	0.05464	9.657000	0.98554	0.527000	0.28560	-0.382000	0.06688	CAA	KLHL13	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.363	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		G	NM_033495		117053561	-1	no_errors	ENST00000539496	ensembl	human	known	70_37	missense	SNP	1.000	C
KMO	8564	genome.wustl.edu	37	1	241714342	241714342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:241714342C>T	ENST00000366559.4	+	4	621	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	KMO_ENST00000366558.3_Nonsense_Mutation_p.Q104*|KMO_ENST00000366557.4_Nonsense_Mutation_p.Q104*|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.Q104*(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GACAAAGTCTCAGGTAGGTTT	0.443																																																	1	Substitution - Nonsense(1)	cervix(1)											128.0	127.0	127.0					1																	241714342		2203	4300	6503	SO:0001587	stop_gained	8564			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.310C>T	1.37:g.241714342C>T	ENSP00000355517:p.Gln104*			Nonsense_Mutation	SNP	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like	p.Q104*	ENST00000366559.4	37	c.310	CCDS1618.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.057969	0.98032	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	.	.	.	X	104	.	ENSP00000355515:Q104X	Q	+	1	0	KMO	239780965	1.000000	0.71417	0.997000	0.53966	0.560000	0.35617	5.823000	0.69272	2.941000	0.99782	0.655000	0.94253	CAG	KMO	-	pfam_mOase_FAD-bd		0.443	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMO	HGNC	protein_coding	OTTHUMT00000095612.1	C	NM_003679		241714342	+1	no_errors	ENST00000366559	ensembl	human	known	70_37	nonsense	SNP	0.998	T
KNTC1	9735	genome.wustl.edu	37	12	123058851	123058851	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:123058851C>G	ENST00000333479.7	+	27	2483	c.2306C>G	c.(2305-2307)tCa>tGa	p.S769*	KNTC1_ENST00000450485.2_Nonsense_Mutation_p.S732*	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	769					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)		p.S769*(1)		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)		AGATGCAGCTCAAAGTCCACA	0.358																																																	1	Substitution - Nonsense(1)	cervix(1)											90.0	81.0	84.0					12																	123058851		1887	4121	6008	SO:0001587	stop_gained	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.2306C>G	12.37:g.123058851C>G	ENSP00000328236:p.Ser769*		A7E2C4|B3KSG2	Nonsense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.S769*	ENST00000333479.7	37	c.2306	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	C	39	7.674367	0.98425	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	.	.	.	5.61	4.67	0.58626	.	0.143965	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.7595	13.8105	0.63260	0.1138:0.7624:0.1238:0.0	.	.	.	.	X	732;769	.	ENSP00000328236:S769X	S	+	2	0	KNTC1	121624804	0.998000	0.40836	0.988000	0.46212	0.934000	0.57294	3.762000	0.55250	2.640000	0.89533	0.563000	0.77884	TCA	KNTC1	-	NULL		0.358	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	C			123058851	+1	no_errors	ENST00000333479	ensembl	human	known	70_37	nonsense	SNP	0.987	G
KPNA2	3838	genome.wustl.edu	37	17	66038376	66038376	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:66038376G>C	ENST00000537025.2	+	5	1098	c.478G>C	c.(478-480)Gat>Cat	p.D160H	KPNA2_ENST00000330459.3_Missense_Mutation_p.D160H			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	160	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.D160H(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCTGTGGTAGATGGAGGTGC	0.483																																																	1	Substitution - Missense(1)	cervix(1)											237.0	230.0	232.0					17																	66038376		2203	4296	6499	SO:0001583	missense	3838			U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.478G>C	17.37:g.66038376G>C	ENSP00000438483:p.Asp160His		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.D160H	ENST00000537025.2	37	c.478	CCDS32713.1	17	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928787	0.73327	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.71579	-0.58;-0.58	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.396937	0.24927	U	0.034492	T	0.72724	0.3496	M	0.61703	1.905	0.58432	D	0.999998	P	0.35600	0.511	B	0.36922	0.236	T	0.74526	-0.3636	10	0.66056	D	0.02	.	19.8706	0.96849	0.0:0.0:1.0:0.0	.	160	P52292	IMA2_HUMAN	H	160	ENSP00000332455:D160H;ENSP00000438483:D160H	ENSP00000332455:D160H	D	+	1	0	KPNA2	63468838	1.000000	0.71417	0.965000	0.40720	0.796000	0.44982	7.707000	0.84623	2.691000	0.91804	0.563000	0.77884	GAT	KPNA2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.483	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	HGNC	protein_coding	OTTHUMT00000448111.1	G	NM_002266		66038376	+1	no_errors	ENST00000330459	ensembl	human	known	70_37	missense	SNP	0.998	C
KPNA2	3838	genome.wustl.edu	37	17	66040016	66040016	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:66040016G>A	ENST00000537025.2	+	8	1613	c.993G>A	c.(991-993)gtG>gtA	p.V331V	KPNA2_ENST00000330459.3_Silent_p.V331V			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	331	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.V331V(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTCAGGTTGTGATTGATGCAG	0.443																																																	1	Substitution - coding silent(1)	cervix(1)											101.0	110.0	107.0					17																	66040016		2203	4296	6499	SO:0001819	synonymous_variant	3838			U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.993G>A	17.37:g.66040016G>A			B9EJD6|Q53YE3|Q9BRU5	Silent	SNP	pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.V331	ENST00000537025.2	37	c.993	CCDS32713.1	17																																																																																			KPNA2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.443	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	HGNC	protein_coding	OTTHUMT00000448111.1	G	NM_002266		66040016	+1	no_errors	ENST00000330459	ensembl	human	known	70_37	silent	SNP	0.884	A
KPNA3	3839	genome.wustl.edu	37	13	50366636	50366636	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:50366636C>T	ENST00000261667.3	-	1	421	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	3	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.E3K(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTGGGGTTCTCGGCCATGGCT	0.711																																																	1	Substitution - Missense(1)	cervix(1)											58.0	58.0	58.0					13																	50366636		2203	4300	6503	SO:0001583	missense	3839			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.7G>A	13.37:g.50366636C>T	ENSP00000261667:p.Glu3Lys		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.E3K	ENST00000261667.3	37	c.7	CCDS9421.1	13	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434215	0.62955	.	.	ENSG00000102753	ENST00000261667	T	0.08458	3.09	3.34	1.57	0.23409	Importin-alpha, importin-beta-binding domain (1);	0.214881	0.38326	U	0.001734	T	0.04952	0.0133	L	0.27053	0.805	0.41988	D	0.990835	B	0.26400	0.148	B	0.24541	0.054	T	0.43972	-0.9358	10	0.12430	T	0.62	0.0	8.1425	0.31091	0.0:0.7885:0.0:0.2115	.	3	O00505	IMA3_HUMAN	K	3	ENSP00000261667:E3K	ENSP00000261667:E3K	E	-	1	0	KPNA3	49264637	1.000000	0.71417	0.980000	0.43619	0.917000	0.54804	5.613000	0.67688	0.151000	0.19162	0.446000	0.29264	GAG	KPNA3	-	pfscan_Importin-a_IBB		0.711	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2	C	NM_002267		50366636	-1	no_errors	ENST00000261667	ensembl	human	known	70_37	missense	SNP	1.000	T
KRT1	3848	genome.wustl.edu	37	12	53072003	53072003	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:53072003C>G	ENST00000252244.3	-	3	869	c.811G>C	c.(811-813)Gag>Cag	p.E271Q		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	271	Coil 1B.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.E271Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ATTTCATCCTCATACCTGCAG	0.403																																																	1	Substitution - Missense(1)	cervix(1)											119.0	96.0	104.0					12																	53072003		2203	4300	6503	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.811G>C	12.37:g.53072003C>G	ENSP00000252244:p.Glu271Gln		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E271Q	ENST00000252244.3	37	c.811	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565331	0.86439	.	.	ENSG00000167768	ENST00000252244	D	0.87571	-2.27	5.17	5.17	0.71159	Filament (1);	.	.	.	.	D	0.94518	0.8235	M	0.87456	2.885	0.53005	D	0.999963	D	0.89917	1.0	D	0.97110	1.0	D	0.95163	0.8283	9	0.87932	D	0	.	19.0483	0.93030	0.0:1.0:0.0:0.0	.	271	P04264	K2C1_HUMAN	Q	271	ENSP00000252244:E271Q	ENSP00000252244:E271Q	E	-	1	0	KRT1	51358270	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.815000	0.86186	2.579000	0.87056	0.655000	0.94253	GAG	KRT1	-	pfam_F,prints_Keratin_II		0.403	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	C	NM_006121		53072003	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	missense	SNP	1.000	G
KRT31	3881	genome.wustl.edu	37	17	39550303	39550303	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:39550303G>C	ENST00000251645.2	-	7	1268	c.1216C>G	c.(1216-1218)Ccc>Gcc	p.P406A		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	406	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.P406A(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CCACAGCGGGGGCGTGGGGCA	0.637																																																	2	Substitution - Missense(2)	cervix(2)											68.0	59.0	62.0					17																	39550303		2203	4300	6503	SO:0001583	missense	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1216C>G	17.37:g.39550303G>C	ENSP00000251645:p.Pro406Ala		Q9UE12	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.P406A	ENST00000251645.2	37	c.1216	CCDS11391.1	17	.	.	.	.	.	.	.	.	.	.	g	11.25	1.583778	0.28268	.	.	ENSG00000094796	ENST00000251645	T	0.80393	-1.37	5.52	0.744	0.18353	.	0.962194	0.08590	N	0.923212	T	0.61426	0.2346	N	0.11756	0.17	0.25643	N	0.986174	B	0.19583	0.037	B	0.17979	0.02	T	0.46020	-0.9221	10	0.20046	T	0.44	.	6.5043	0.22186	0.4636:0.0:0.5364:0.0	.	406	Q15323	K1H1_HUMAN	A	406	ENSP00000251645:P406A	ENSP00000251645:P406A	P	-	1	0	KRT31	36803829	0.456000	0.25744	0.840000	0.33206	0.979000	0.70002	0.406000	0.21032	0.292000	0.22492	0.655000	0.94253	CCC	KRT31	-	NULL		0.637	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1	G	NM_002277		39550303	-1	no_errors	ENST00000251645	ensembl	human	known	70_37	missense	SNP	0.465	C
KRT86	3892	genome.wustl.edu	37	12	52702236	52702236	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:52702236C>G	ENST00000423955.2	+	11	1506	c.1328C>G	c.(1327-1329)tCc>tGc	p.S443C	KRT86_ENST00000544024.1_Missense_Mutation_p.S443C|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Missense_Mutation_p.S443C			O43790	KRT86_HUMAN	keratin 86	443	Tail.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S443C(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCTGCGCCTCCACTACTGCC	0.677																																																	1	Substitution - Missense(1)	cervix(1)											21.0	25.0	23.0					12																	52702236		2202	4299	6501	SO:0001583	missense	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.1328C>G	12.37:g.52702236C>G	ENSP00000444533:p.Ser443Cys		P78387	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S443C	ENST00000423955.2	37	c.1328	CCDS41785.1	12	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301978	0.40694	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.82344	-1.6;-1.6;-1.6	5.55	4.66	0.58398	.	0.443902	0.15937	U	0.237389	T	0.80099	0.4561	L	0.49126	1.545	0.09310	N	1	P	0.35527	0.507	B	0.37091	0.241	T	0.71820	-0.4477	10	0.51188	T	0.08	.	12.8776	0.57999	0.0:0.6503:0.3497:0.0	.	443	O43790	KRT86_HUMAN	C	443	ENSP00000443169:S443C;ENSP00000444533:S443C;ENSP00000293525:S443C	ENSP00000293525:S443C	S	+	2	0	AC021066.1;KRT86	50988503	0.012000	0.17670	0.058000	0.19502	0.686000	0.39977	1.715000	0.37971	1.315000	0.45114	0.561000	0.74099	TCC	KRT86	-	NULL		0.677	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Uniprot_genename	protein_coding	OTTHUMT00000404911.1	C	NM_002284		52702236	+1	no_errors	ENST00000293525	ensembl	human	known	70_37	missense	SNP	0.114	G
KRT71	112802	genome.wustl.edu	37	12	52940165	52940165	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:52940165C>T	ENST00000267119.5	-	7	1299	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	410	Coil 2.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R410R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CGCGCAGCATCCGCGCCAGCT	0.657																																																	1	Substitution - coding silent(1)	cervix(1)											81.0	72.0	75.0					12																	52940165		2203	4300	6503	SO:0001819	synonymous_variant	112802			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1230G>A	12.37:g.52940165C>T			B3KVC1|Q3SY85|Q96DU2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R410	ENST00000267119.5	37	c.1230	CCDS8831.1	12																																																																																			KRT71	-	pfam_F,superfamily_Prefoldin		0.657	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT71	HGNC	protein_coding	OTTHUMT00000396487.1	C	NM_033448		52940165	-1	no_errors	ENST00000267119	ensembl	human	known	70_37	silent	SNP	0.775	T
L3MBTL3	84456	genome.wustl.edu	37	6	130374065	130374065	+	Silent	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:130374065C>A	ENST00000529410.1	+	9	990	c.511C>A	c.(511-513)Cgg>Agg	p.R171R	L3MBTL3_ENST00000533560.1_Silent_p.R146R|L3MBTL3_ENST00000368136.2_Silent_p.R171R|L3MBTL3_ENST00000526019.1_Silent_p.R146R|L3MBTL3_ENST00000361794.2_Silent_p.R171R|L3MBTL3_ENST00000368139.2_Silent_p.R146R			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	171					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R171R(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TAAGTGTAGTCGGAAGAAAAA	0.423																																																	1	Substitution - coding silent(1)	cervix(1)											102.0	90.0	94.0					6																	130374065		2203	4300	6503	SO:0001819	synonymous_variant	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.511C>A	6.37:g.130374065C>A			Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.R171	ENST00000529410.1	37	c.511	CCDS34537.1	6																																																																																			L3MBTL3	-	NULL		0.423	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	C	XM_027074		130374065	+1	no_errors	ENST00000361794	ensembl	human	known	70_37	silent	SNP	1.000	A
LAMA1	284217	genome.wustl.edu	37	18	7009317	7009317	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:7009317C>T	ENST00000389658.3	-	27	4015	c.3922G>A	c.(3922-3924)Gag>Aag	p.E1308K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1308	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1308K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATAAAATCCTCTCGCGTGACA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											115.0	109.0	111.0					18																	7009317		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3922G>A	18.37:g.7009317C>T	ENSP00000374309:p.Glu1308Lys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E1308K	ENST00000389658.3	37	c.3922	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	9.233	1.036324	0.19669	.	.	ENSG00000101680	ENST00000389658	T	0.37411	1.2	6.15	1.17	0.20885	Laminin B type IV (2);Laminin B, subgroup (1);	0.570409	0.18290	N	0.145755	T	0.30947	0.0781	L	0.59967	1.855	0.09310	N	0.999994	B	0.31705	0.336	B	0.32090	0.14	T	0.22068	-1.0227	10	0.62326	D	0.03	.	6.7046	0.23244	0.6212:0.2515:0.1273:0.0	.	1308	P25391	LAMA1_HUMAN	K	1308	ENSP00000374309:E1308K	ENSP00000374309:E1308K	E	-	1	0	LAMA1	6999317	0.990000	0.36364	0.301000	0.25044	0.058000	0.15608	1.090000	0.30902	0.186000	0.20125	-1.132000	0.01976	GAG	LAMA1	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.398	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	C	NM_005559		7009317	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	missense	SNP	0.398	T
LAMA4	3910	genome.wustl.edu	37	6	112439102	112439102	+	Splice_Site	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:112439102C>G	ENST00000230538.7	-	35	5219		c.e35-1		LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGGAGTTAATCTGAGGGAAGA	0.448																																																	1	Unknown(1)	cervix(1)											74.0	73.0	73.0					6																	112439102		2203	4300	6503	SO:0001630	splice_region_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4822-1G>C	6.37:g.112439102C>G			Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Splice_Site	SNP	-	e34-1	ENST00000230538.7	37	c.4822-1	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253302	0.59212	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6091	0.95594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA4	112545795	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	6.975000	0.76128	2.650000	0.89964	0.655000	0.94253	.	LAMA4	-	-		0.448	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	C	NM_001105206	Intron	112439102	-1	no_errors	ENST00000230538	ensembl	human	known	70_37	splice_site	SNP	1.000	G
LAMTOR1	55004	genome.wustl.edu	37	11	71814247	71814247	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:71814247C>G	ENST00000278671.5	-	1	186	c.24G>C	c.(22-24)gaG>gaC	p.E8D	LAMTOR1_ENST00000538404.1_Missense_Mutation_p.E8D|LAMTOR1_ENST00000535107.1_Missense_Mutation_p.E8D|LRTOMT_ENST00000307198.7_Intron|LAMTOR1_ENST00000539797.1_5'Flank|LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000545249.1_Missense_Mutation_p.E8D|snoU13_ENST00000459046.1_RNA|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000439209.1_Intron	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1	8					cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)		p.E8D(1)		cervix(1)	1						AGTCCTCGTTCTCGCTGCTGT	0.711																																																	1	Substitution - Missense(1)	cervix(1)											9.0	10.0	9.0					11																	71814247		2175	4252	6427	SO:0001583	missense	55004			AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"""p27kip1 releasing factor from RhoA"", ""protein associated with DRMs and endosomes"""	613510	"""chromosome 11 open reading frame 59"""	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869	ENST00000278671.5:c.24G>C	11.37:g.71814247C>G	ENSP00000278671:p.Glu8Asp		Q8WZ09|Q9NWT0	Missense_Mutation	SNP	NULL	p.E8D	ENST00000278671.5	37	c.24	CCDS8209.1	11	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632202	0.29068	.	.	ENSG00000149357	ENST00000545249;ENST00000535107;ENST00000278671;ENST00000538404	T;T;T;T	0.46063	0.91;0.91;0.93;0.88	5.07	0.227	0.15359	.	0.295681	0.32918	N	0.005489	T	0.18087	0.0434	N	0.05124	-0.11	0.39693	D	0.971074	B	0.02656	0.0	B	0.01281	0.0	T	0.08785	-1.0705	10	0.18276	T	0.48	.	9.8024	0.40773	0.0:0.7281:0.1389:0.133	.	8	Q6IAA8	LTOR1_HUMAN	D	8	ENSP00000440738:E8D;ENSP00000445170:E8D;ENSP00000278671:E8D;ENSP00000439011:E8D	ENSP00000278671:E8D	E	-	3	2	LAMTOR1	71491895	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.669000	0.25142	0.160000	0.19432	0.655000	0.94253	GAG	LAMTOR1	-	NULL		0.711	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR1	HGNC	protein_coding	OTTHUMT00000396733.1	C	NM_017907		71814247	-1	no_errors	ENST00000278671	ensembl	human	known	70_37	missense	SNP	0.995	G
LATS1	9113	genome.wustl.edu	37	6	150004621	150004621	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:150004621C>T	ENST00000543571.1	-	4	2151	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E	LATS1_ENST00000392273.3_Missense_Mutation_p.G535E|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.G535E	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.G535E(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGAAGCGGTTCCCTCAGGAAA	0.483																																																	2	Substitution - Missense(2)	cervix(2)											154.0	141.0	145.0					6																	150004621		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1604G>A	6.37:g.150004621C>T	ENSP00000437550:p.Gly535Glu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.G535E	ENST00000543571.1	37	c.1604	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312046	0.23821	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.51817	0.69;0.69;3.25	5.53	3.67	0.42095	.	0.201470	0.34676	N	0.003777	T	0.25121	0.0610	L	0.51422	1.61	0.34231	D	0.676537	B;B;B	0.17667	0.0;0.023;0.0	B;B;B	0.14578	0.002;0.011;0.001	T	0.07654	-1.0761	9	.	.	.	.	16.019	0.80468	0.0:0.7455:0.2545:0.0	.	387;535;535	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	E	535	ENSP00000437550:G535E;ENSP00000253339:G535E;ENSP00000444678:G535E	.	G	-	2	0	LATS1	150046314	0.073000	0.21202	0.667000	0.29798	0.792000	0.44763	2.657000	0.46724	0.749000	0.32854	0.655000	0.94253	GGA	LATS1	-	NULL		0.483	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	C	NM_004690		150004621	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	0.986	T
LCAT	3931	genome.wustl.edu	37	16	67974263	67974263	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67974263G>A	ENST00000264005.5	-	6	896	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	289					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)	p.F289F(1)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GTGTGGAAATGAACACGTGGT	0.557																																																	1	Substitution - coding silent(1)	cervix(1)											142.0	120.0	127.0					16																	67974263		2198	4300	6498	SO:0001819	synonymous_variant	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.867C>T	16.37:g.67974263G>A			Q53XQ3	Silent	SNP	pfam_LACT/PDAT_acylTrfase	p.F289	ENST00000264005.5	37	c.867	CCDS10854.1	16																																																																																			LCAT	-	pfam_LACT/PDAT_acylTrfase		0.557	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	G			67974263	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	silent	SNP	1.000	A
LCAT	3931	genome.wustl.edu	37	16	67974298	67974298	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67974298G>A	ENST00000264005.5	-	6	861	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	278					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)	p.P278S(1)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		ATGCGAGAGGGAAACATCCAG	0.552																																																	1	Substitution - Missense(1)	cervix(1)											141.0	123.0	129.0					16																	67974298		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.832C>T	16.37:g.67974298G>A	ENSP00000264005:p.Pro278Ser		Q53XQ3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.P278S	ENST00000264005.5	37	c.832	CCDS10854.1	16	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508940	0.85282	.	.	ENSG00000213398	ENST00000264005	D	0.96011	-3.88	5.88	4.9	0.64082	.	0.000000	0.64402	U	0.000001	D	0.98185	0.9400	H	0.96489	3.83	0.53688	D	0.999975	D	0.63880	0.993	P	0.61070	0.883	D	0.99029	1.0820	10	0.87932	D	0	-14.5126	14.5969	0.68413	0.0:0.1469:0.8531:0.0	.	278	P04180	LCAT_HUMAN	S	278	ENSP00000264005:P278S	ENSP00000264005:P278S	P	-	1	0	LCAT	66531799	1.000000	0.71417	0.947000	0.38551	0.918000	0.54935	9.789000	0.99068	1.434000	0.47414	0.555000	0.69702	CCC	LCAT	-	pfam_LACT/PDAT_acylTrfase		0.552	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	G			67974298	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	missense	SNP	1.000	A
LCAT	3931	genome.wustl.edu	37	16	67974359	67974359	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67974359G>A	ENST00000264005.5	-	6	800	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	257				I -> H (in Ref. 8; CAB56610/AAA59499). {ECO:0000305}.	cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)	p.I257I(1)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		TGCTGGACATGATGGGGATGC	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											107.0	93.0	98.0					16																	67974359		2198	4300	6498	SO:0001819	synonymous_variant	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.771C>T	16.37:g.67974359G>A			Q53XQ3	Silent	SNP	pfam_LACT/PDAT_acylTrfase	p.I257	ENST00000264005.5	37	c.771	CCDS10854.1	16																																																																																			LCAT	-	pfam_LACT/PDAT_acylTrfase		0.592	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	G			67974359	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	silent	SNP	1.000	A
LCAT	3931	genome.wustl.edu	37	16	67974364	67974364	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67974364G>A	ENST00000264005.5	-	6	795	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	256					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)	p.P256S(1)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GACATGATGGGGATGCCCTGG	0.602																																																	1	Substitution - Missense(1)	cervix(1)											100.0	87.0	91.0					16																	67974364		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.766C>T	16.37:g.67974364G>A	ENSP00000264005:p.Pro256Ser		Q53XQ3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.P256S	ENST00000264005.5	37	c.766	CCDS10854.1	16	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821686	0.50633	.	.	ENSG00000213398	ENST00000264005	D	0.95853	-3.83	5.62	5.62	0.85841	.	0.078206	0.51477	U	0.000093	D	0.95639	0.8582	M	0.74467	2.265	0.43368	D	0.995457	P	0.48089	0.905	P	0.47376	0.545	D	0.94309	0.7544	10	0.24483	T	0.36	-14.8674	17.1696	0.86826	0.0:0.0:1.0:0.0	.	256	P04180	LCAT_HUMAN	S	256	ENSP00000264005:P256S	ENSP00000264005:P256S	P	-	1	0	LCAT	66531865	1.000000	0.71417	0.967000	0.41034	0.989000	0.77384	5.520000	0.67080	2.644000	0.89710	0.561000	0.74099	CCC	LCAT	-	pfam_LACT/PDAT_acylTrfase		0.602	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	G			67974364	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	missense	SNP	1.000	A
LCE1B	353132	genome.wustl.edu	37	1	152785089	152785089	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:152785089C>G	ENST00000360090.3	+	1	643	c.167C>G	c.(166-168)tCt>tGt	p.S56C		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	56	Gly-rich.				keratinization (GO:0031424)			p.S56C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTCCAGCTCTGGGGGAAGC	0.642																																																	1	Substitution - Missense(1)	cervix(1)											60.0	68.0	65.0					1																	152785089		2203	4300	6503	SO:0001583	missense	353132			BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.167C>G	1.37:g.152785089C>G	ENSP00000353203:p.Ser56Cys		A4IF40	Missense_Mutation	SNP	NULL	p.S56C	ENST00000360090.3	37	c.167	CCDS1027.1	1	.	.	.	.	.	.	.	.	.	.	C	7.529	0.658247	0.14645	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	T	0.03982	3.74	4.52	1.3	0.21679	.	.	.	.	.	T	0.08980	0.0222	M	0.86420	2.815	0.09310	N	1	D	0.63046	0.992	P	0.54629	0.757	T	0.04386	-1.0955	9	0.87932	D	0	.	12.8304	0.57742	0.0:0.41:0.59:0.0	.	56	Q5T7P3	LCE1B_HUMAN	C	56	ENSP00000353203:S56C	ENSP00000353203:S56C	S	+	2	0	LCE1B	151051713	0.000000	0.05858	0.024000	0.17045	0.951000	0.60555	-0.648000	0.05391	0.149000	0.19098	0.603000	0.83216	TCT	LCE1B	-	NULL		0.642	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1B	HGNC	protein_coding	OTTHUMT00000040060.1	C	NM_178349		152785089	+1	no_errors	ENST00000360090	ensembl	human	known	70_37	missense	SNP	0.140	G
LCP2	3937	genome.wustl.edu	37	5	169689718	169689718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:169689718G>A	ENST00000046794.5	-	13	1462	c.847C>T	c.(847-849)Caa>Taa	p.Q283*	LCP2_ENST00000521416.1_Nonsense_Mutation_p.Q78*	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	283					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.Q283*(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAGGCTTTTGAATCTTGGGT	0.502																																																	2	Substitution - Nonsense(2)	cervix(2)											87.0	86.0	86.0					5																	169689718		1934	4144	6078	SO:0001587	stop_gained	3937				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.847C>T	5.37:g.169689718G>A	ENSP00000046794:p.Gln283*		A8KA25|Q53XV4	Nonsense_Mutation	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.Q283*	ENST00000046794.5	37	c.847	CCDS47339.1	5	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801702	0.90538	.	.	ENSG00000043462	ENST00000046794;ENST00000521416;ENST00000520344	.	.	.	5.65	4.75	0.60458	.	0.571382	0.18013	N	0.154485	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4478	9.7824	0.40656	0.0991:0.0:0.9009:0.0	.	.	.	.	X	283;78;50	.	.	Q	-	1	0	LCP2	169622296	0.714000	0.27936	0.264000	0.24511	0.222000	0.24845	3.796000	0.55507	1.320000	0.45209	0.655000	0.94253	CAA	LCP2	-	NULL		0.502	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	G	NM_005565		169689718	-1	no_errors	ENST00000046794	ensembl	human	known	70_37	nonsense	SNP	0.811	A
LDHB	3945	genome.wustl.edu	37	12	21790116	21790116	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:21790116G>A	ENST00000396076.1	-	7	1058	c.726C>T	c.(724-726)gtC>gtT	p.V242V	LDHB_ENST00000350669.1_Silent_p.V242V	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	242					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)	p.V242V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						TTAGCTTGATGACTTCATAGG	0.358																																																	1	Substitution - coding silent(1)	cervix(1)											85.0	87.0	86.0					12																	21790116		2203	4299	6502	SO:0001819	synonymous_variant	3945				CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.726C>T	12.37:g.21790116G>A				Silent	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.V242	ENST00000396076.1	37	c.726	CCDS8691.1	12																																																																																			LDHB	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.358	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LDHB	HGNC	protein_coding	OTTHUMT00000258220.2	G	NM_002300		21790116	-1	no_errors	ENST00000350669	ensembl	human	known	70_37	silent	SNP	1.000	A
LEFTY1	10637	genome.wustl.edu	37	1	226075320	226075320	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:226075320C>G	ENST00000272134.5	-	3	595	c.516G>C	c.(514-516)gaG>gaC	p.E172D	LEFTY1_ENST00000492457.1_5'Flank|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.E281Q	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	172					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)		p.E172D(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					TCCAGCCGCTCTCGTGGACGG	0.716																																																	1	Substitution - Missense(1)	cervix(1)											15.0	19.0	17.0					1																	226075320		2138	4178	6316	SO:0001583	missense	10637			AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.516G>C	1.37:g.226075320C>G	ENSP00000272134:p.Glu172Asp		B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF	p.E172D	ENST00000272134.5	37	c.516	CCDS1548.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.76|13.76	2.332759|2.332759	0.41297|0.41297	.|.	.|.	ENSG00000243709|ENSG00000255835	ENST00000272134|ENST00000432920	T|D	0.66460|0.81499	-0.21|-1.5	3.9|3.9	0.669|0.669	0.17918|0.17918	Transforming growth factor-beta, N-terminal (1);|.	0.050310|0.050310	0.85682|0.85682	N|D	0.000000|0.000000	T|T	0.76314|0.76314	0.3970|0.3970	M|M	0.79926|0.79926	2.475|2.475	0.40498|0.40498	D|D	0.980615|0.980615	B|B	0.31655|0.16802	0.334|0.019	B|B	0.34824|0.14023	0.19|0.01	T|T	0.73572|0.73572	-0.3940|-0.3940	10|10	0.25106|0.87932	T|D	0.35|0	-0.5155|-0.5155	5.3092|5.3092	0.15821|0.15821	0.1535:0.588:0.0:0.2585|0.1535:0.588:0.0:0.2585	.|.	172|281	O75610|E7EUD8	LFTY1_HUMAN|.	D|Q	172|281	ENSP00000272134:E172D|ENSP00000414068:E281Q	ENSP00000272134:E172D|ENSP00000414068:E281Q	E|E	-|-	3|1	2|0	LEFTY1|RP4-559A3.7	224141943|224141943	0.868000|0.868000	0.29978|0.29978	1.000000|1.000000	0.80357|0.80357	0.736000|0.736000	0.42039|0.42039	-0.054000|-0.054000	0.11826|0.11826	0.762000|0.762000	0.33152|0.33152	-0.657000|-0.657000	0.03884|0.03884	GAG|GAG	LEFTY1	-	pfam_TGF-b_N,pirsf_LRDF,prints_LRDF		0.716	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEFTY1	HGNC	protein_coding	OTTHUMT00000091155.1	C	NM_020997		226075320	-1	no_errors	ENST00000272134	ensembl	human	known	70_37	missense	SNP	0.999	G
LIG1	3978	genome.wustl.edu	37	19	48653381	48653381	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:48653381G>A	ENST00000263274.7	-	8	1080	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000536218.1_Missense_Mutation_p.P153S|LIG1_ENST00000427526.2_Missense_Mutation_p.P190S|CTC-453G23.4_ENST00000594589.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	221					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|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)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.P221S(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GCTCTGCGGGGAGGCTTGGTC	0.612								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	cervix(1)											128.0	96.0	107.0					19																	48653381		2203	4300	6503	SO:0001583	missense	3978				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.661C>T	19.37:g.48653381G>A	ENSP00000263274:p.Pro221Ser		B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.P221S	ENST00000263274.7	37	c.661	CCDS12711.1	19	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478589	0.26511	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.56275	0.55;0.47;0.57;3.02	4.15	-0.928	0.10448	.	0.881125	0.10082	N	0.718266	T	0.40040	0.1101	M	0.64997	1.995	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.008	B;B;B	0.10450	0.003;0.005;0.003	T	0.30851	-0.9964	10	0.15952	T	0.53	-3.2332	1.9583	0.03381	0.1268:0.3756:0.3062:0.1914	.	190;153;221	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	S	221;252;190;153;189	ENSP00000263274:P221S;ENSP00000442841:P190S;ENSP00000441531:P153S;ENSP00000445928:P189S	ENSP00000263274:P221S	P	-	1	0	LIG1	53345193	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.151000	0.10175	-0.053000	0.13289	0.462000	0.41574	CCC	LIG1	-	NULL		0.612	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	G	NM_000234		48653381	-1	no_errors	ENST00000263274	ensembl	human	known	70_37	missense	SNP	0.000	A
LHB	3972	genome.wustl.edu	37	19	49519367	49519367	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49519367C>T	ENST00000221421.2	-	3	383	c.384G>A	c.(382-384)ttG>ttA	p.L128L	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	128					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.L128L(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGTCACAGGTCAAGGGGTGGT	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											57.0	64.0	62.0					19																	49519367		2203	4300	6503	SO:0001819	synonymous_variant	3972				CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"""Endogenous ligands"""	6584	protein-coding gene	gene with protein product	"""lutropin, beta chain"", ""interstitial cell stimulating hormone, beta chain"", ""luteinizing hormone beta subunit"""	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.384G>A	19.37:g.49519367C>T			Q9UDI0	Silent	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.L128	ENST00000221421.2	37	c.384	CCDS12748.1	19																																																																																			LHB	-	pfam_Cys_knot,smart_Gonadotropin_bsu		0.642	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHB	HGNC	protein_coding	OTTHUMT00000466246.1	C	NM_000894		49519367	-1	no_errors	ENST00000221421	ensembl	human	known	70_37	silent	SNP	0.000	T
LILRB4	11006	genome.wustl.edu	37	19	55176613	55176613	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:55176613G>C	ENST00000391736.1	+	8	1054	c.739G>C	c.(739-741)Ggg>Cgg	p.G247R	LILRB4_ENST00000391734.3_Missense_Mutation_p.G247R|LILRB4_ENST00000391733.3_Missense_Mutation_p.G247R|LILRB4_ENST00000430952.2_Missense_Mutation_p.G247R|LILRB4_ENST00000270452.2_Missense_Mutation_p.G247R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	247					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G247R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CATGCCTACAGGGTCAGTCCC	0.652																																																	1	Substitution - Missense(1)	cervix(1)											44.0	38.0	40.0					19																	55176613		2203	4300	6503	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.739G>C	19.37:g.55176613G>C	ENSP00000375616:p.Gly247Arg		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	pfam_Immunoglobulin,pfscan_Ig-like	p.G247R	ENST00000391736.1	37	c.739	CCDS12902.1	19	.	.	.	.	.	.	.	.	.	.	g	1.941	-0.443481	0.04604	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00479	7.14;7.14;7.14;7.12;7.16;7.13	1.1	-0.014	0.13982	.	.	.	.	.	T	0.00440	0.0014	M	0.74647	2.275	0.09310	N	1	B;B;B;B;B	0.25486	0.127;0.0;0.001;0.009;0.001	B;B;B;B;B	0.18263	0.021;0.001;0.002;0.015;0.001	T	0.36578	-0.9742	9	0.38643	T	0.18	.	5.0774	0.14638	0.0:0.3817:0.6183:0.0	.	247;246;247;247;247	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	R	247;247;247;247;247;246	ENSP00000375616:G247R;ENSP00000270452:G247R;ENSP00000408995:G247R;ENSP00000375614:G247R;ENSP00000375613:G247R;ENSP00000401962:G246R	ENSP00000270452:G247R	G	+	1	0	LILRB4	59868425	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.256000	0.18351	0.031000	0.15407	-0.484000	0.04775	GGG	LILRB4	-	NULL		0.652	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	HGNC	protein_coding	OTTHUMT00000141127.3	G			55176613	+1	no_errors	ENST00000270452	ensembl	human	known	70_37	missense	SNP	0.000	C
LIMK1	3984	genome.wustl.edu	37	7	73511476	73511476	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:73511476G>A	ENST00000336180.2	+	4	409	c.358G>A	c.(358-360)Gac>Aac	p.D120N	LIMK1_ENST00000418310.1_Missense_Mutation_p.D150N|LIMK1_ENST00000538333.3_Missense_Mutation_p.D86N|LIMK1_ENST00000491052.1_3'UTR	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	120	LIM zinc-binding 2. {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)	p.D120N(1)		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)	CTTTATCGGTGACGGGGACAC	0.622																																																	1	Substitution - Missense(1)	cervix(1)											105.0	66.0	79.0					7																	73511476		2203	4300	6503	SO:0001583	missense	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.358G>A	7.37:g.73511476G>A	ENSP00000336740:p.Asp120Asn		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	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.D120N	ENST00000336180.2	37	c.358	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763759	0.89932	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000423685;ENST00000538333	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.2	5.2	0.72013	Zinc finger, LIM-type (4);	0.048337	0.85682	N	0.000000	D	0.92808	0.7713	M	0.70842	2.15	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93448	0.6799	10	0.72032	D	0.01	-30.0247	16.2928	0.82759	0.0:0.0:1.0:0.0	.	86;120	B7Z6I8;P53667	.;LIMK1_HUMAN	N	150;120;120;86;86	ENSP00000409717:D150N;ENSP00000336740:D120N;ENSP00000396480:D86N;ENSP00000444452:D86N	ENSP00000336740:D120N	D	+	1	0	LIMK1	73149412	1.000000	0.71417	0.891000	0.34965	0.535000	0.34838	9.341000	0.97041	2.444000	0.82710	0.650000	0.86243	GAC	LIMK1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.622	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	G	NM_002314		73511476	+1	no_errors	ENST00000336180	ensembl	human	known	70_37	missense	SNP	0.998	A
LIN28A	79727	genome.wustl.edu	37	1	26752837	26752837	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:26752837C>G	ENST00000326279.6	+	4	632	c.518C>G	c.(517-519)tCa>tGa	p.S173*	LIN28A_ENST00000254231.4_Nonsense_Mutation_p.S173*	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	173					germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S173*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ATGGTAGCCTCATGTCCGCTG	0.557																																																	1	Substitution - Nonsense(1)	cervix(1)											63.0	61.0	62.0					1																	26752837		2203	4300	6503	SO:0001587	stop_gained	79727			AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.518C>G	1.37:g.26752837C>G	ENSP00000363314:p.Ser173*			Nonsense_Mutation	SNP	pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd	p.S173*	ENST00000326279.6	37	c.518	CCDS280.1	1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.832901	0.71258	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	.	.	.	4.71	4.71	0.59529	.	0.811389	0.10491	N	0.668428	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.5175	0.44898	0.3038:0.6962:0.0:0.0	.	.	.	.	X	173	.	ENSP00000254231:S173X	S	+	2	0	LIN28A	26625424	0.092000	0.21681	0.990000	0.47175	0.984000	0.73092	2.270000	0.43355	2.444000	0.82710	0.555000	0.69702	TCA	LIN28A	-	superfamily_Znf_CCHC,smart_Znf_CCHC		0.557	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN28A	HGNC	protein_coding	OTTHUMT00000009891.2	C	NM_024674		26752837	+1	no_errors	ENST00000254231	ensembl	human	known	70_37	nonsense	SNP	0.926	G
LIPF	8513	genome.wustl.edu	37	10	90427329	90427329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:90427329C>T	ENST00000238983.4	+	3	155	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	LIPF_ENST00000355843.2_Nonsense_Mutation_p.Q47*|LIPF_ENST00000608620.1_Nonsense_Mutation_p.Q37*|LIPF_ENST00000394375.3_Nonsense_Mutation_p.Q47*	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	37					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)	p.Q47*(1)|p.Q37*(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TCCTCAGAGTCAGATGATTAC	0.274																																																	2	Substitution - Nonsense(2)	cervix(2)											71.0	81.0	77.0					10																	90427329		2203	4297	6500	SO:0001587	stop_gained	8513			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.109C>T	10.37:g.90427329C>T	ENSP00000238983:p.Gln37*		B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Nonsense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.Q47*	ENST00000238983.4	37	c.139	CCDS7389.1	10	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798460	0.90538	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	.	.	.	4.64	3.7	0.42460	.	0.129829	0.35436	N	0.003219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.7384	12.2266	0.54463	0.0:0.5221:0.4779:0.0	.	.	.	.	X	47;37;37	.	ENSP00000238983:Q37X	Q	+	1	0	LIPF	90417309	0.979000	0.34478	1.000000	0.80357	0.964000	0.63967	0.799000	0.27028	1.098000	0.41479	0.650000	0.86243	CAG	LIPF	-	pfam_AB_hydrolase_lipase		0.274	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	HGNC	protein_coding	OTTHUMT00000049256.1	C			90427329	+1	no_errors	ENST00000394375	ensembl	human	known	70_37	nonsense	SNP	0.993	T
LLGL2	3993	genome.wustl.edu	37	17	73552126	73552126	+	Splice_Site	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:73552126G>A	ENST00000392550.3	+	3	192		c.e3-1		LLGL2_ENST00000375227.4_Splice_Site|LLGL2_ENST00000577200.1_Splice_Site|LLGL2_ENST00000578363.1_Splice_Site|LLGL2_ENST00000167462.5_Splice_Site	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)						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)	p.?(2)		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)			TCTCGTTGCAGACGGTGGAGC	0.677																																																	2	Unknown(2)	cervix(2)											67.0	59.0	62.0					17																	73552126		2203	4300	6503	SO:0001630	splice_region_variant	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.76-1G>A	17.37:g.73552126G>A			Q14521|Q9BR62	Splice_Site	SNP	-	e2-1	ENST00000392550.3	37	c.76-1	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492056	0.84962	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7752	0.88505	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LLGL2	71063721	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.595000	0.98260	2.431000	0.82371	0.563000	0.77884	.	LLGL2	-	-		0.677	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	G	NM_004524	Intron	73552126	+1	no_errors	ENST00000392550	ensembl	human	known	70_37	splice_site	SNP	1.000	A
LMBRD1	55788	genome.wustl.edu	37	6	70500257	70500257	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:70500257G>C	ENST00000370577.3	-	2	406	c.177C>G	c.(175-177)atC>atG	p.I59M	LMBRD1_ENST00000370570.1_De_novo_Start_InFrame	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	59					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.I59M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						GTGCTGATGTGATAAGTGCAA	0.338																																																	1	Substitution - Missense(1)	cervix(1)											105.0	111.0	109.0					6																	70500257		2203	4300	6503	SO:0001583	missense	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.177C>G	6.37:g.70500257G>C	ENSP00000359609:p.Ile59Met		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.I59M	ENST00000370577.3	37	c.177	CCDS4969.1	6	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730089	0.30684	.	.	ENSG00000168216	ENST00000370577	T	0.16743	2.32	5.93	5.06	0.68205	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	N	0.25647	0.755	0.80722	D	1	P	0.34934	0.476	B	0.33196	0.159	T	0.35475	-0.9787	10	0.23302	T	0.38	-11.1251	11.259	0.49071	0.19:0.0:0.81:0.0	.	59	Q9NUN5	LMBD1_HUMAN	M	59	ENSP00000359609:I59M	ENSP00000359609:I59M	I	-	3	3	LMBRD1	70556978	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.066000	0.30604	1.503000	0.48686	0.655000	0.94253	ATC	LMBRD1	-	pfam_LMBR1-like_membr_prot		0.338	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	G	NM_018368		70500257	-1	no_errors	ENST00000370577	ensembl	human	known	70_37	missense	SNP	1.000	C
LMF2	91289	genome.wustl.edu	37	22	50943260	50943260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:50943260C>A	ENST00000474879.2	-	10	1423	c.1408G>T	c.(1408-1410)Gag>Tag	p.E470*	LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Intron|LMF2_ENST00000216080.5_Nonsense_Mutation_p.E445*	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	470						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E445*(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TAACTGCCCTCCAGCACCACC	0.701																																																	1	Substitution - Nonsense(1)	cervix(1)											17.0	20.0	19.0					22																	50943260		2195	4282	6477	SO:0001587	stop_gained	91289			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1408G>T	22.37:g.50943260C>A	ENSP00000424381:p.Glu470*		A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Nonsense_Mutation	SNP	pfam_LMF	p.E470*	ENST00000474879.2	37	c.1408	CCDS14093.2	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.122063|6.122063	0.97300|0.97300	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000474879;ENST00000216080|ENST00000487499	.|.	.|.	.|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.123056|.	0.51477|.	D|.	0.000082|.	.|T	.|0.71256	.|0.3318	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70799	.|-0.4774	.|4	0.87932|.	D|.	0|.	0.0867|0.0867	15.4514|15.4514	0.75277|0.75277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	470;445|476	.|.	ENSP00000216080:E445X|.	E|G	-|-	1|2	0|0	LMF2|LMF2	49290126|49290126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	4.236000|4.236000	0.58675|0.58675	2.230000|2.230000	0.72887|0.72887	0.655000|0.655000	0.94253|0.94253	GAG|GGA	LMF2	-	pfam_LMF		0.701	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	HGNC	protein_coding	OTTHUMT00000316833.2	C	NM_033200		50943260	-1	no_errors	ENST00000474879	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LMX1A	4009	genome.wustl.edu	37	1	165173199	165173199	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:165173199G>C	ENST00000342310.3	-	9	1449	c.1067C>G	c.(1066-1068)tCa>tGa	p.S356*	LMX1A_ENST00000294816.2_Nonsense_Mutation_p.S356*|LMX1A_ENST00000367893.4_Nonsense_Mutation_p.S356*|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	356					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|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.S356*(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCCAGCTTCTGAGGTTGCTAG	0.507																																																	1	Substitution - Nonsense(1)	cervix(1)											109.0	107.0	108.0					1																	165173199		2203	4300	6503	SO:0001587	stop_gained	4009			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.1067C>G	1.37:g.165173199G>C	ENSP00000340226:p.Ser356*		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Nonsense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.S356*	ENST00000342310.3	37	c.1067	CCDS1247.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.355120	0.97498	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	.	.	.	5.14	5.14	0.70334	.	0.367300	0.28958	N	0.013585	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.3903	0.90481	0.0:0.0:1.0:0.0	.	.	.	.	X	356	.	ENSP00000294816:S356X	S	-	2	0	LMX1A	163439823	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	9.006000	0.93592	2.666000	0.90696	0.561000	0.74099	TCA	LMX1A	-	NULL		0.507	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMX1A	HGNC	protein_coding	OTTHUMT00000083668.2	G	NM_177398		165173199	-1	no_errors	ENST00000294816	ensembl	human	known	70_37	nonsense	SNP	0.997	C
SLC39A12	221074	genome.wustl.edu	37	10	18292097	18292097	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:18292097C>T	ENST00000377369.2	+	12	2032				SLC39A12_ENST00000539911.1_Intron|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000377371.3_Intron|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377374.4_Intron	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12						regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTTAAACTTCAGGAGACTTT	0.383																																																	1	Unknown(1)	cervix(1)											135.0	136.0	135.0					10																	18292097		2203	4300	6503	SO:0001627	intron_variant	100129213				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1760-3C>T	10.37:g.18292097C>T			B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	RNA	SNP	-	NULL	ENST00000377369.2	37	NULL	CCDS44362.1	10																																																																																			RP11-110H10.2	-	-		0.383	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100129213	Clone_based_vega_gene	protein_coding		C	NM_152725		18292097	-1	no_errors	ENST00000439319	ensembl	human	known	70_37	rna	SNP	0.945	T
UPK3B	80761	genome.wustl.edu	37	7	76179053	76179053	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:76179053C>G	ENST00000419923.2	+	4	1393				AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B						negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CCGGGCCCCTCGGGAGCAGAA	0.726																																																	0																																										SO:0001627	intron_variant	100133091			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000419923.2:c.960+34280C>G	7.37:g.76179053C>G			A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	RNA	SNP	-	NULL	ENST00000419923.2	37	NULL	CCDS5588.1	7																																																																																			AC004980.7	-	-		0.726	UPK3B-201	KNOWN	basic|CCDS	protein_coding	LOC100133091	Clone_based_vega_gene	protein_coding		C	NM_030570		76179053	+1	no_errors	ENST00000418663	ensembl	human	known	70_37	rna	SNP	0.960	G
L3MBTL2	83746	genome.wustl.edu	37	22	41605531	41605531	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:41605531C>T	ENST00000216237.5	+	2	182				RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_Intron|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAATTGCATCATGGTGGAGA	0.378																																																	0																																										SO:0001627	intron_variant	100506544			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.25-169C>T	22.37:g.41605531C>T			Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	RNA	SNP	-	NULL	ENST00000216237.5	37	NULL	CCDS14011.1	22																																																																																			RP4-756G23.5	-	-		0.378	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100506544	Clone_based_vega_gene	protein_coding	OTTHUMT00000320613.1	C	NM_031488		41605531	-1	no_errors	ENST00000441316	ensembl	human	known	70_37	rna	SNP	0.000	T
CA3	761	genome.wustl.edu	37	8	86354196	86354196	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:86354196G>A	ENST00000285381.2	+	3	315				RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific						bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	CCAGCAAACTGACCACATTTT	0.423																																																	0																																										SO:0001627	intron_variant	100996348			AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.233-106G>A	8.37:g.86354196G>A			B2R867|B3KUC8|O60842	RNA	SNP	-	NULL	ENST00000285381.2	37	NULL	CCDS6238.1	8																																																																																			RP11-317J10.2	-	-		0.423	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100996348	Clone_based_vega_gene	protein_coding	OTTHUMT00000381090.1	G	NM_005181		86354196	-1	no_errors	ENST00000517697	ensembl	human	known	70_37	rna	SNP	0.004	A
RP11-146E13.4	0	genome.wustl.edu	37	14	19856846	19856846	+	lincRNA	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:19856846C>T	ENST00000548109.1	+	0	72																											TACCTGCTCTCATGTCATCTA	0.333																																																	0																																												101060483																															14.37:g.19856846C>T				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-		0.333	RP11-146E13.4-001	KNOWN	basic	lincRNA	LOC101060483	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1	C			19856846	-1	no_errors	ENST00000551334	ensembl	human	known	70_37	rna	SNP	1.000	T
LINC00969	440993	genome.wustl.edu	37	3	195400839	195400839	+	lincRNA	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:195400839C>G	ENST00000445430.1	+	0	1435									long intergenic non-protein coding RNA 969																		CCCTGAGCATCGCAGAGTCGT	0.547																																																	0																																												440993			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400839C>G				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			AC069513.3	-	-		0.547	LINC00969-038	KNOWN	basic	lincRNA	LOC440993	Clone_based_vega_gene	lincRNA	OTTHUMT00000341951.1	C			195400839	+1	no_errors	ENST00000414625	ensembl	human	known	70_37	rna	SNP	0.997	G
ENTPD1	953	genome.wustl.edu	37	10	97607200	97607200	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:97607200C>T	ENST00000371205.4	+	7	1096				RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000371207.3_Intron|ENTPD1_ENST00000543964.1_Intron			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.?(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TTTTTCCATTCAGGTTGCAAG	0.423																																																	1	Unknown(1)	cervix(1)											108.0	104.0	105.0					10																	97607200		2203	4300	6503	SO:0001627	intron_variant	728558			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.814-3C>T	10.37:g.97607200C>T			A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	RNA	SNP	-	NULL	ENST00000371205.4	37	NULL	CCDS7444.1	10																																																																																			RP11-429G19.2	-	-		0.423	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC728558	Clone_based_vega_gene	protein_coding	OTTHUMT00000049566.1	C	NM_001776		97607200	-1	no_errors	ENST00000416301	ensembl	human	known	70_37	rna	SNP	0.998	T
LONRF3	79836	genome.wustl.edu	37	X	118143099	118143099	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:118143099C>G	ENST00000371628.3	+	7	1572	c.1541C>G	c.(1540-1542)tCa>tGa	p.S514*	LONRF3_ENST00000304778.7_Nonsense_Mutation_p.S473*|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Nonsense_Mutation_p.S258*	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	514							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.S473*(2)|p.S514*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGCTTGGCATCAAGAAAATAC	0.383																																																	4	Substitution - Nonsense(4)	cervix(2)|lung(2)											94.0	85.0	88.0					X																	118143099		2203	4300	6503	SO:0001587	stop_gained	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1541C>G	X.37:g.118143099C>G	ENSP00000360690:p.Ser514*		Q5JPN6|Q8NB00|Q9H647	Nonsense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.S514*	ENST00000371628.3	37	c.1541	CCDS35374.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.336922|7.336922	0.98221|0.98221	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000439603|ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289	.|.	.|.	.|.	6.08|6.08	4.09|4.09	0.47781|0.47781	.|.	.|0.476626	.|0.21720	.|N	.|0.070122	T|.	0.18759|.	0.0450|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21008|.	-1.0258|.	3|.	.|0.07644	.|T	.|0.81	-51.3869|-51.3869	4.29|4.29	0.10874|0.10874	0.0:0.5399:0.0:0.4601|0.0:0.5399:0.0:0.4601	.|.	.|.	.|.	.|.	M|X	279|473;473;514;258	.|.	.|ENSP00000307732:S473X	I|S	+|+	3|2	3|0	LONRF3|LONRF3	118027127|118027127	0.135000|0.135000	0.22499|0.22499	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.671000|0.671000	0.25172|0.25172	1.304000|1.304000	0.44892|0.44892	0.600000|0.600000	0.82982|0.82982	ATC|TCA	LONRF3	-	NULL		0.383	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	HGNC	protein_coding	OTTHUMT00000355124.2	C	NM_024778		118143099	+1	no_errors	ENST00000371628	ensembl	human	known	70_37	nonsense	SNP	0.932	G
LPHN1	22859	genome.wustl.edu	37	19	14271452	14271452	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:14271452C>T	ENST00000340736.6	-	8	1879	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.D523N|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'Flank	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	528					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)	p.D528N(1)		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						TTGCTGAGGTCAGGGCCCCGG	0.647																																																	1	Substitution - Missense(1)	cervix(1)											32.0	34.0	34.0					19																	14271452		2201	4299	6500	SO:0001583	missense	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.1582G>A	19.37:g.14271452C>T	ENSP00000340688:p.Asp528Asn		Q96IE7|Q9BU07|Q9HAR3	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.D528N	ENST00000340736.6	37	c.1582	CCDS32928.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.146867	0.94603	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.61859	0.07;0.07	5.08	5.08	0.68730	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	T	0.71970	0.3403	L	0.55834	1.745	0.80722	D	1	D;D	0.76494	0.999;0.988	D;D	0.78314	0.991;0.934	T	0.74642	-0.3597	10	0.87932	D	0	.	16.3041	0.82841	0.0:1.0:0.0:0.0	.	523;528	O94910-2;O94910	.;LPHN1_HUMAN	N	528;523	ENSP00000340688:D528N;ENSP00000355328:D523N	ENSP00000340688:D528N	D	-	1	0	LPHN1	14132452	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.734000	0.84928	2.523000	0.85059	0.491000	0.48974	GAC	LPHN1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.647	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	C	NM_014921		14271452	-1	no_errors	ENST00000340736	ensembl	human	known	70_37	missense	SNP	1.000	T
LPIN1	23175	genome.wustl.edu	37	2	11964764	11964764	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:11964764G>A	ENST00000256720.2	+	20	2613	c.2520G>A	c.(2518-2520)gtG>gtA	p.V840V	LPIN1_ENST00000396099.1_Silent_p.V882V|LPIN1_ENST00000425416.2_Silent_p.V846V|LPIN1_ENST00000396097.1_Silent_p.V570V|LPIN1_ENST00000404113.2_Silent_p.V341V|LPIN1_ENST00000449576.2_Silent_p.V925V	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	840					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.V840V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CCAGGTATGTGAGACTCTGTG	0.483																																																	1	Substitution - coding silent(1)	cervix(1)											127.0	111.0	117.0					2																	11964764		2203	4300	6503	SO:0001819	synonymous_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2520G>A	2.37:g.11964764G>A			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.V925	ENST00000256720.2	37	c.2775	CCDS1682.1	2																																																																																			LPIN1	-	NULL		0.483	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	G	NM_145693		11964764	+1	no_errors	ENST00000449576	ensembl	human	known	70_37	silent	SNP	0.988	A
LPO	4025	genome.wustl.edu	37	17	56324982	56324982	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:56324982C>G	ENST00000262290.4	+	4	624	c.308C>G	c.(307-309)tCc>tGc	p.S103C	LPO_ENST00000421678.2_Intron|LPO_ENST00000582328.1_Intron|LPO_ENST00000543544.1_Missense_Mutation_p.S44C	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	103					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.S103C(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAGAAGGCATCCTTGACCAAT	0.557																																																	1	Substitution - Missense(1)	cervix(1)											90.0	84.0	86.0					17																	56324982		2203	4300	6503	SO:0001583	missense	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.308C>G	17.37:g.56324982C>G	ENSP00000262290:p.Ser103Cys		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S103C	ENST00000262290.4	37	c.308	CCDS32689.1	17	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257753	0.39896	.	.	ENSG00000167419	ENST00000262290;ENST00000543544	T;T	0.72167	-0.52;-0.63	5.56	3.15	0.36227	.	1.275740	0.04981	N	0.465592	T	0.57814	0.2079	N	0.08118	0	0.18873	N	0.999982	B;P	0.38300	0.141;0.626	B;P	0.45232	0.289;0.474	T	0.52495	-0.8568	10	0.48119	T	0.1	-1.3543	4.2944	0.10894	0.1679:0.6051:0.0:0.227	.	44;103	B4E1M1;P22079	.;PERL_HUMAN	C	103;44	ENSP00000262290:S103C;ENSP00000445344:S44C	ENSP00000262290:S103C	S	+	2	0	LPO	53679981	0.009000	0.17119	0.004000	0.12327	0.120000	0.20174	0.846000	0.27682	0.466000	0.27193	0.655000	0.94253	TCC	LPO	-	NULL		0.557	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	C			56324982	+1	no_errors	ENST00000262290	ensembl	human	known	70_37	missense	SNP	0.006	G
LRFN1	57622	genome.wustl.edu	37	19	39798861	39798861	+	Silent	SNP	G	G	C	rs566825325		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:39798861G>C	ENST00000248668.4	-	2	1727	c.1728C>G	c.(1726-1728)ctC>ctG	p.L576L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	576						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L528L(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGACCCGCGGGAGCGACCTGG	0.692																																																	1	Substitution - coding silent(1)	cervix(1)											18.0	23.0	22.0					19																	39798861		2136	4234	6370	SO:0001819	synonymous_variant	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1728C>G	19.37:g.39798861G>C			Q8TBS9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L576	ENST00000248668.4	37	c.1728	CCDS46071.1	19																																																																																			LRFN1	-	NULL		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	G	NM_020862		39798861	-1	no_errors	ENST00000248668	ensembl	human	known	70_37	silent	SNP	0.943	C
LRFN2	57497	genome.wustl.edu	37	6	40400385	40400385	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:40400385G>C	ENST00000338305.6	-	2	1010	c.468C>G	c.(466-468)ctC>ctG	p.L156L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	156						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L156L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTTGTAGGAGAGGTCCAGAT	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											72.0	71.0	71.0					6																	40400385		2203	4300	6503	SO:0001819	synonymous_variant	57497			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.468C>G	6.37:g.40400385G>C			A5PKU3|Q5SYP9	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L156	ENST00000338305.6	37	c.468	CCDS34443.1	6																																																																																			LRFN2	-	smart_Leu-rich_rpt_typical-subtyp		0.582	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1	G	XM_166372		40400385	-1	no_errors	ENST00000338305	ensembl	human	known	70_37	silent	SNP	0.980	C
LRFN5	145581	genome.wustl.edu	37	14	42361085	42361085	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:42361085C>G	ENST00000298119.4	+	4	3207	c.2018C>G	c.(2017-2019)tCa>tGa	p.S673*	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	673						integral component of membrane (GO:0016021)		p.S673*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGAACAACTCAACTGCCTTG	0.453										HNSCC(30;0.082)																																							1	Substitution - Nonsense(1)	cervix(1)											96.0	81.0	86.0					14																	42361085		2203	4300	6503	SO:0001587	stop_gained	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.2018C>G	14.37:g.42361085C>G	ENSP00000298119:p.Ser673*		B3KU78|Q86XL2	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S673*	ENST00000298119.4	37	c.2018	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	47	13.550821	0.99749	.	.	ENSG00000165379	ENST00000298119	.	.	.	5.69	5.69	0.88448	.	0.000000	0.48767	D	0.000180	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3132	0.87215	0.0:1.0:0.0:0.0	.	.	.	.	X	673	.	ENSP00000298119:S673X	S	+	2	0	LRFN5	41430835	1.000000	0.71417	0.995000	0.50966	0.533000	0.34776	5.478000	0.66806	2.699000	0.92147	0.650000	0.86243	TCA	LRFN5	-	NULL		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	C	NM_152447		42361085	+1	no_errors	ENST00000298119	ensembl	human	known	70_37	nonsense	SNP	0.997	G
LRP2	4036	genome.wustl.edu	37	2	170063720	170063720	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:170063720C>T	ENST00000263816.3	-	39	6795	c.6510G>A	c.(6508-6510)ctG>ctA	p.L2170L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2170					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)	p.L2170L(1)		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)"""	GAACTTCTATCAGTGTTTCAG	0.398																																																	1	Substitution - coding silent(1)	cervix(1)											60.0	58.0	59.0					2																	170063720		2203	4300	6503	SO:0001819	synonymous_variant	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.6510G>A	2.37:g.170063720C>T			O00711|Q16215	Silent	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.L2170	ENST00000263816.3	37	c.6510	CCDS2232.1	2																																																																																			LRP2	-	smart_LDLR_classB_rpt		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170063720	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	silent	SNP	0.983	T
LRP5	4041	genome.wustl.edu	37	11	68125245	68125245	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:68125245G>T	ENST00000294304.7	+	3	722	c.616G>T	c.(616-618)Gag>Tag	p.E206*		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	206	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.E206*(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGACCTGGAGGAGCAGAAGCT	0.622																																																	1	Substitution - Nonsense(1)	cervix(1)											79.0	61.0	67.0					11																	68125245		2200	4294	6494	SO:0001587	stop_gained	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.616G>T	11.37:g.68125245G>T	ENSP00000294304:p.Glu206*		Q96TD6|Q9UES7|Q9UP66	Nonsense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E206*	ENST00000294304.7	37	c.616	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959920	0.92791	.	.	ENSG00000162337	ENST00000294304	.	.	.	3.76	3.76	0.43208	.	0.000000	0.49305	U	0.000159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	16.9039	0.86120	0.0:0.0:1.0:0.0	.	.	.	.	X	206	.	ENSP00000294304:E206X	E	+	1	0	LRP5	67881821	0.998000	0.40836	1.000000	0.80357	0.805000	0.45488	2.673000	0.46858	2.407000	0.81776	0.455000	0.32223	GAG	LRP5	-	smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDLR_classB_rpt		0.622	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335		68125245	+1	no_errors	ENST00000294304	ensembl	human	known	70_37	nonsense	SNP	0.998	T
LRP5L	91355	genome.wustl.edu	37	22	25750768	25750768	+	Silent	SNP	G	G	A	rs555246803		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:25750768G>A	ENST00000402785.2	-	3	546	c.450C>T	c.(448-450)gtC>gtT	p.V150V	LRP5L_ENST00000444995.3_Silent_p.V150V|LRP5L_ENST00000402859.2_Silent_p.V150V			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	150					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V150V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCGTCTCATCGACACTGATCG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		20116	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	cervix(1)											110.0	97.0	101.0					22																	25750768		2200	4300	6500	SO:0001819	synonymous_variant	91355			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.450C>T	22.37:g.25750768G>A			B0QYF3|B0QYF4|B2RPI5	Silent	SNP	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	p.V150	ENST00000402785.2	37	c.450	CCDS33626.1	22																																																																																			LRP5L	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt		0.607	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5L	HGNC	protein_coding	OTTHUMT00000320477.2	G	NM_182492		25750768	-1	no_errors	ENST00000402785	ensembl	human	known	70_37	silent	SNP	0.652	A
LRRC1	55227	genome.wustl.edu	37	6	53778727	53778727	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:53778727C>G	ENST00000370888.1	+	11	1343	c.1066C>G	c.(1066-1068)Cag>Gag	p.Q356E		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	356						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q356E(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AGAGGTGTCACAGGCAACAGA	0.468																																																	1	Substitution - Missense(1)	cervix(1)											80.0	80.0	80.0					6																	53778727		1991	4167	6158	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1066C>G	6.37:g.53778727C>G	ENSP00000359925:p.Gln356Glu		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q356E	ENST00000370888.1	37	c.1066	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284604	0.40394	.	.	ENSG00000137269	ENST00000370888	T	0.75938	-0.98	4.74	4.74	0.60224	.	0.075455	0.53938	D	0.000049	T	0.43853	0.1266	L	0.28115	0.83	0.80722	D	1	B	0.27229	0.172	B	0.27380	0.079	T	0.40794	-0.9544	10	0.13108	T	0.6	.	12.0459	0.53479	0.1722:0.8278:0.0:0.0	.	356	Q9BTT6	LRRC1_HUMAN	E	356	ENSP00000359925:Q356E	ENSP00000359925:Q356E	Q	+	1	0	LRRC1	53886686	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	5.406000	0.66357	2.466000	0.83321	0.655000	0.94253	CAG	LRRC1	-	smart_Leu-rich_rpt_typical-subtyp		0.468	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	C	NM_025168		53778727	+1	no_errors	ENST00000370888	ensembl	human	known	70_37	missense	SNP	1.000	G
LRRC16B	90668	genome.wustl.edu	37	14	24522998	24522998	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:24522998G>C	ENST00000342740.5	+	2	275	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	RP11-468E2.9_ENST00000558293.1_RNA|LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	41						cytoplasm (GO:0005737)		p.E41Q(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CAAGAAGTTTGAGGACCGAGT	0.632																																																	1	Substitution - Missense(1)	cervix(1)											51.0	37.0	42.0					14																	24522998		2203	4300	6503	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.121G>C	14.37:g.24522998G>C	ENSP00000340467:p.Glu41Gln		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E41Q	ENST00000342740.5	37	c.121	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093892	0.56075	.	.	ENSG00000186648	ENST00000342740	T	0.20598	2.06	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000012	T	0.41166	0.1147	M	0.64567	1.98	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.05550	-1.0878	10	0.28530	T	0.3	-13.1183	14.3127	0.66426	0.0:0.0:1.0:0.0	.	41	Q8ND23	LR16B_HUMAN	Q	41	ENSP00000340467:E41Q	ENSP00000340467:E41Q	E	+	1	0	LRRC16B	23592838	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.503000	0.60407	2.517000	0.84864	0.462000	0.41574	GAG	LRRC16B	-	NULL		0.632	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	G	NM_138360		24522998	+1	no_errors	ENST00000342740	ensembl	human	known	70_37	missense	SNP	1.000	C
LRRC31	79782	genome.wustl.edu	37	3	169579586	169579586	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:169579586G>A	ENST00000316428.5	-	2	248	c.191C>T	c.(190-192)tCa>tTa	p.S64L	LRRC31_ENST00000523069.1_Missense_Mutation_p.S64L|LRRC31_ENST00000264676.5_Missense_Mutation_p.S64L|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	64								p.S64L(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTCCATTTCTGAACTGAGAGG	0.378																																																	1	Substitution - Missense(1)	cervix(1)											132.0	124.0	127.0					3																	169579586		1871	4106	5977	SO:0001583	missense	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.191C>T	3.37:g.169579586G>A	ENSP00000325978:p.Ser64Leu		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S64L	ENST00000316428.5	37	c.191	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	G	6.574	0.474247	0.12521	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.07688	3.23;3.17;3.48	5.36	1.42	0.22433	.	1.056470	0.07480	N	0.903636	T	0.06005	0.0156	N	0.24115	0.695	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.001	T	0.45071	-0.9286	10	0.27785	T	0.31	-10.8425	5.5166	0.16910	0.2508:0.1422:0.6071:0.0	.	64;64	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	L	64	ENSP00000325978:S64L;ENSP00000264676:S64L;ENSP00000429145:S64L	ENSP00000264676:S64L	S	-	2	0	LRRC31	171062280	0.766000	0.28496	0.016000	0.15963	0.000000	0.00434	0.944000	0.29043	0.233000	0.21120	-0.363000	0.07495	TCA	LRRC31	-	NULL		0.378	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	G	NM_024727		169579586	-1	no_errors	ENST00000316428	ensembl	human	known	70_37	missense	SNP	0.016	A
LRRC31	79782	genome.wustl.edu	37	3	169587429	169587429	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:169587429G>C	ENST00000316428.5	-	1	224	c.167C>G	c.(166-168)tCa>tGa	p.S56*	LRRC31_ENST00000523069.1_Nonsense_Mutation_p.S56*|LRRC31_ENST00000264676.5_Nonsense_Mutation_p.S56*|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	56								p.S56*(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ACCAGTCTCTGAGGTGGCTGT	0.388																																																	1	Substitution - Nonsense(1)	cervix(1)											99.0	99.0	99.0					3																	169587429		1873	4103	5976	SO:0001587	stop_gained	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.167C>G	3.37:g.169587429G>C	ENSP00000325978:p.Ser56*		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S56*	ENST00000316428.5	37	c.167	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015876	0.75161	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	.	.	.	4.66	1.37	0.22104	.	2.557140	0.01501	N	0.017504	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	6.5786	0.22581	0.3701:0.0:0.6299:0.0	.	.	.	.	X	56	.	ENSP00000264676:S56X	S	-	2	0	LRRC31	171070123	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.269000	0.08596	0.046000	0.15833	-0.471000	0.05019	TCA	LRRC31	-	NULL		0.388	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	G	NM_024727		169587429	-1	no_errors	ENST00000316428	ensembl	human	known	70_37	nonsense	SNP	0.013	C
LRRC37A11P	342666	genome.wustl.edu	37	17	37188224	37188224	+	RNA	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:37188224C>G	ENST00000425901.2	+	0	2066					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		AAACCTGACTCAAGTCACAGT	0.512																																																	0																																												342666					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188224C>G				RNA	SNP	-	NULL	ENST00000425901.2	37	NULL		17																																																																																			LRRC37A11P	-	-		0.512	LRRC37A11P-002	KNOWN	basic	processed_transcript	LRRC37A11P	HGNC	pseudogene	OTTHUMT00000444105.1	C	NR_033753		37188224	+1	no_errors	ENST00000425901	ensembl	human	known	70_37	rna	SNP	0.108	G
LRRC52	440699	genome.wustl.edu	37	1	165514074	165514074	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:165514074C>T	ENST00000294818.1	+	1	831	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	181					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L181L(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GACCCTGTTTCTGAGTGGAAA	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											141.0	146.0	144.0					1																	165514074		2203	4300	6503	SO:0001819	synonymous_variant	440699			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.541C>T	1.37:g.165514074C>T			A2RUN7|Q5T9K5	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L181	ENST00000294818.1	37	c.541	CCDS30930.1	1																																																																																			LRRC52	-	NULL		0.522	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC52	HGNC	protein_coding	OTTHUMT00000083793.1	C	NM_001005214		165514074	+1	no_errors	ENST00000294818	ensembl	human	known	70_37	silent	SNP	0.999	T
LSM5	23658	genome.wustl.edu	37	7	32529949	32529949	+	Missense_Mutation	SNP	G	G	A	rs376563041		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:32529949G>A	ENST00000450169.2	-	1	81	c.29C>T	c.(28-30)tCg>tTg	p.S10L	LSM5_ENST00000409292.1_5'Flank|LSM5_ENST00000409909.3_Intron|LSM5_ENST00000409952.3_Intron|LSM5_ENST00000409782.1_5'UTR|LSM5_ENST00000410044.1_5'UTR|LSM5_ENST00000409987.1_Missense_Mutation_p.S10L	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)	10					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.S10L(2)		breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			CAGCAGCTGCGACGGGTTGGT	0.612																																																	2	Substitution - Missense(2)	cervix(1)|breast(1)						G	,,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	82.0	66.0	71.0		,,29	5.2	1.0	7		71	0,8600		0,0,4300	no	intron,intron,missense	LSM5	NM_001130710.1,NM_001139499.1,NM_012322.2	,,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,possibly-damaging	,,10/92	32529949	1,13005	2203	4300	6503	SO:0001583	missense	23658			AF182291	CCDS5438.1, CCDS47571.1	7p14.3	2003-02-17			ENSG00000106355	ENSG00000106355			17162	protein-coding gene	gene with protein product		607285				10369684, 12515382	Standard	NM_001130710		Approved	YER146W	uc003tct.2	Q9Y4Y9	OTTHUMG00000022913	ENST00000450169.2:c.29C>T	7.37:g.32529949G>A	ENSP00000410758:p.Ser10Leu			Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.S10L	ENST00000450169.2	37	c.29	CCDS5438.1	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297735	0.81025	2.27E-4	0.0	ENSG00000106355	ENST00000450169;ENST00000409987	.	.	.	5.23	5.23	0.72850	.	0.063724	0.64402	D	0.000003	T	0.59115	0.2170	.	.	.	0.80722	D	1	B	0.19331	0.035	B	0.12156	0.007	T	0.58329	-0.7655	8	0.87932	D	0	-0.3862	18.58	0.91167	0.0:0.0:1.0:0.0	.	10	Q9Y4Y9	LSM5_HUMAN	L	10	.	ENSP00000223084:S10L	S	-	2	0	LSM5	32496474	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.655000	0.83696	2.719000	0.93026	0.655000	0.94253	TCG	LSM5	-	NULL		0.612	LSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM5	HGNC	protein_coding	OTTHUMT00000215102.2	G			32529949	-1	no_errors	ENST00000450169	ensembl	human	known	70_37	missense	SNP	1.000	A
LSS	4047	genome.wustl.edu	37	21	47639401	47639401	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:47639401G>A	ENST00000397728.3	-	6	714	c.636C>T	c.(634-636)ttC>ttT	p.F212F	LSS_ENST00000457828.2_Silent_p.F132F|LSS_ENST00000464357.1_5'UTR|AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000522411.1_Silent_p.F201F|LSS_ENST00000356396.4_Silent_p.F212F	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	212					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)	p.F212F(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					ACATCTCTGGGAACAGGGTAT	0.592																																					Pancreas(114;955 2313 34923 50507)												1	Substitution - coding silent(1)	cervix(1)											172.0	124.0	141.0					21																	47639401		2203	4300	6503	SO:0001819	synonymous_variant	4047			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.636C>T	21.37:g.47639401G>A			B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.F212	ENST00000397728.3	37	c.636	CCDS13733.1	21																																																																																			LSS	-	superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase		0.592	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	G			47639401	-1	no_errors	ENST00000356396	ensembl	human	known	70_37	silent	SNP	0.988	A
LTBP4	8425	genome.wustl.edu	37	19	41111433	41111433	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:41111433G>A	ENST00000308370.7	+	6	766	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.E219K|LTBP4_ENST00000396819.3_Missense_Mutation_p.E189K	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	256					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E256K(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ggcgcgggcggaagcggcggc	0.731																																																	1	Substitution - Missense(1)	cervix(1)											12.0	15.0	14.0					19																	41111433		1865	3872	5737	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.766G>A	19.37:g.41111433G>A	ENSP00000311905:p.Glu256Lys		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E256K	ENST00000308370.7	37	c.766		19	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111472	0.20714	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	T;T;T	0.80480	-1.37;-1.38;-1.34	3.87	0.287	0.15714	.	1.013460	0.07959	U	0.982045	T	0.64821	0.2633	L	0.36672	1.1	0.22827	N	0.998684	B;B;B	0.26809	0.16;0.16;0.16	B;B;B	0.23275	0.045;0.045;0.045	T	0.51244	-0.8730	10	0.02654	T	1	.	6.4147	0.21710	0.0:0.3813:0.4226:0.1961	.	189;256;219	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	K	219;256;189	ENSP00000204005:E219K;ENSP00000311905:E256K;ENSP00000380031:E189K	ENSP00000204005:E219K	E	+	1	0	LTBP4	45803273	0.978000	0.34361	0.774000	0.31636	0.420000	0.31355	2.584000	0.46102	0.806000	0.34183	0.491000	0.48974	GAA	LTBP4	-	NULL		0.731	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		G	NM_003573		41111433	+1	no_errors	ENST00000308370	ensembl	human	known	70_37	missense	SNP	0.127	A
LYPD3	27076	genome.wustl.edu	37	19	43965792	43965792	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:43965792G>A	ENST00000244333.3	-	5	840	c.752C>T	c.(751-753)tCa>tTa	p.S251L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	251					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S251L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				AGATGTGGTTGAGGCCACAGT	0.612																																																	1	Substitution - Missense(1)	cervix(1)											119.0	130.0	126.0					19																	43965792		2203	4300	6503	SO:0001583	missense	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.752C>T	19.37:g.43965792G>A	ENSP00000244333:p.Ser251Leu		Q9UJ74	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.S251L	ENST00000244333.3	37	c.752	CCDS12620.1	19	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449990	0.43531	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.12774	2.65	4.99	-0.576	0.11731	.	0.521273	0.17790	N	0.161910	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.12156	0.007	T	0.29822	-0.9999	10	0.54805	T	0.06	.	6.7163	0.23304	0.0882:0.0:0.3669:0.5449	.	251	O95274	LYPD3_HUMAN	L	251;199	ENSP00000244333:S251L	ENSP00000244333:S251L	S	-	2	0	LYPD3	48657632	0.000000	0.05858	0.000000	0.03702	0.362000	0.29581	0.014000	0.13333	-0.163000	0.10946	0.603000	0.83216	TCA	LYPD3	-	NULL		0.612	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD3	HGNC	protein_coding	OTTHUMT00000463177.1	G	NM_014400		43965792	-1	no_errors	ENST00000244333	ensembl	human	known	70_37	missense	SNP	0.000	A
LYST	1130	genome.wustl.edu	37	1	235955247	235955247	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:235955247G>A	ENST00000389794.3	-	12	4469	c.4295C>T	c.(4294-4296)tCa>tTa	p.S1432L	LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Missense_Mutation_p.S1432L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1432					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)		p.S1432L(1)		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)			CTTGCTCCGTGAAACTCGTGC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											150.0	149.0	149.0					1																	235955247		2203	4300	6503	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.4295C>T	1.37:g.235955247G>A	ENSP00000374444:p.Ser1432Leu		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.S1432L	ENST00000389794.3	37	c.4295	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066814	0.55539	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61859	0.07;0.07	5.61	5.61	0.85477	.	0.581133	0.19869	N	0.104224	T	0.47600	0.1454	L	0.33485	1.01	0.80722	D	1	B;B	0.17268	0.021;0.016	B;B	0.18561	0.022;0.012	T	0.35201	-0.9798	10	0.40728	T	0.16	.	13.2338	0.59958	0.0728:0.0:0.9272:0.0	.	1432;1432	Q99698-3;Q99698	.;LYST_HUMAN	L	1432	ENSP00000374444:S1432L;ENSP00000374443:S1432L	ENSP00000374443:S1432L	S	-	2	0	LYST	234021870	1.000000	0.71417	0.150000	0.22450	0.995000	0.86356	7.258000	0.78371	2.803000	0.96430	0.650000	0.86243	TCA	LYST	-	superfamily_ARM-type_fold		0.478	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235955247	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	missense	SNP	0.988	A
LYZL1	84569	genome.wustl.edu	37	10	29578116	29578116	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:29578116G>A	ENST00000375500.3	+	1	127	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.E24K(1)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AGACTCAACTGAGAAGTCAGC	0.517																																																	1	Substitution - Missense(1)	cervix(1)											47.0	41.0	43.0					10																	29578116		2203	4300	6503	SO:0001583	missense	84569				CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.70G>A	10.37:g.29578116G>A	ENSP00000364650:p.Glu24Lys		Q5T921|Q8WW16	Missense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.E24K	ENST00000375500.3	37	c.70	CCDS31174.1	10	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869663	0.51588	.	.	ENSG00000120563	ENST00000375500	T	0.67698	-0.28	4.04	1.62	0.23740	.	.	.	.	.	T	0.50905	0.1643	.	.	.	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.45673	-0.9245	8	0.56958	D	0.05	-1.2184	3.8751	0.09053	0.1856:0.2236:0.5908:0.0	.	24	Q6UWQ5-2	.	K	24	ENSP00000364650:E24K	ENSP00000364650:E24K	E	+	1	0	LYZL1	29618122	0.003000	0.15002	0.000000	0.03702	0.019000	0.09904	1.326000	0.33735	0.403000	0.25479	0.561000	0.74099	GAG	LYZL1	-	NULL		0.517	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL1	HGNC	protein_coding	OTTHUMT00000047381.1	G	NM_032517		29578116	+1	no_errors	ENST00000375500	ensembl	human	known	70_37	missense	SNP	0.000	A
M6PR	4074	genome.wustl.edu	37	12	9095088	9095088	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:9095088C>T	ENST00000000412.3	-	6	1103	c.635G>A	c.(634-636)cGa>cAa	p.R212Q		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	212					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)	p.R212Q(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	CACTACCAGTCGCTGGTATAG	0.468																																																	1	Substitution - Missense(1)	cervix(1)											125.0	116.0	119.0					12																	9095088		2203	4300	6503	SO:0001583	missense	4074				CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.635G>A	12.37:g.9095088C>T	ENSP00000000412:p.Arg212Gln		A8K528|D3DUV5	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,prints_Man_6_P_rcpt	p.R212Q	ENST00000000412.3	37	c.635	CCDS8598.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.734322|5.734322	0.96865|0.96865	.|.	.|.	ENSG00000003056|ENSG00000003056	ENST00000539143;ENST00000537621|ENST00000000412;ENST00000544193;ENST00000543704	.|T	.|0.28069	.|1.63	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55529|0.55529	0.1926|0.1926	M|M	0.67700|0.67700	2.07|2.07	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.43114|0.43114	-0.9411|-0.9411	5|10	.|0.29301	.|T	.|0.29	-17.3306|-17.3306	19.5549|19.5549	0.95342|0.95342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|212	.|P20645	.|MPRD_HUMAN	N|Q	23;90|212;9;83	.|ENSP00000000412:R212Q	.|ENSP00000000412:R212Q	D|R	-|-	1|2	0|0	M6PR|M6PR	8986355|8986355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GAC|CGA	M6PR	-	prints_Man_6_P_rcpt		0.468	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	M6PR	HGNC	protein_coding	OTTHUMT00000399130.1	C			9095088	-1	no_errors	ENST00000000412	ensembl	human	known	70_37	missense	SNP	1.000	T
MAGEA11	4110	genome.wustl.edu	37	X	148798206	148798206	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:148798206G>A	ENST00000355220.5	+	5	1162	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E325K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	354	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A77A(1)|p.E354K(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCTCTTTGGGGAGCCCAAGAG	0.542																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)											140.0	143.0	142.0					X																	148798206		2203	4300	6503	SO:0001583	missense	4110				CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1060G>A	X.37:g.148798206G>A	ENSP00000347358:p.Glu354Lys		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E354K	ENST00000355220.5	37	c.1060	CCDS48180.1	X	.	.	.	.	.	.	.	.	.	.	N	12.96	2.093860	0.36952	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.05139	3.49;3.49	0.909	0.909	0.19332	.	.	.	.	.	T	0.18045	0.0433	M	0.91972	3.26	0.09310	N	1	P;D	0.53885	0.952;0.963	P;P	0.51487	0.541;0.671	T	0.09100	-1.0690	8	.	.	.	.	4.8361	0.13466	0.0:0.0:1.0:0.0	.	325;354	G5E962;P43364	.;MAGAB_HUMAN	K	325;354	ENSP00000328177:E325K;ENSP00000347358:E354K	.	E	+	1	0	MAGEA11	148576199	0.058000	0.20735	0.014000	0.15608	0.031000	0.12232	0.274000	0.18680	0.721000	0.32231	0.377000	0.23210	GAG	MAGEA11	-	pfam_MAGE,pfscan_MAGE		0.542	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEA11	HGNC	protein_coding	OTTHUMT00000058725.4	G	NM_005366		148798206	+1	no_errors	ENST00000355220	ensembl	human	known	70_37	missense	SNP	0.013	A
MAGI3	260425	genome.wustl.edu	37	1	114223935	114223935	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:114223935G>A	ENST00000307546.9	+	20	3380	c.3305G>A	c.(3304-3306)gGa>gAa	p.G1102E	MAGI3_ENST00000369611.4_Missense_Mutation_p.G1102E|MAGI3_ENST00000369617.4_Missense_Mutation_p.G1127E|MAGI3_ENST00000369615.1_Missense_Mutation_p.G1102E	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1127	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.G1102E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGAGGCCAGGAACTGGCTTG	0.413																																																	2	Substitution - Missense(2)	cervix(2)											128.0	119.0	122.0					1																	114223935		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3305G>A	1.37:g.114223935G>A	ENSP00000304604:p.Gly1102Glu		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.G1102E	ENST00000307546.9	37	c.3305	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.239035	0.95240	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611;ENST00000546156	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.53865	-0.8378	10	0.87932	D	0	2.0012	20.0966	0.97849	0.0:0.0:1.0:0.0	.	1102;1102;1127	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	E	1127;1102;1102;1102;142	ENSP00000358630:G1127E;ENSP00000304604:G1102E;ENSP00000358628:G1102E;ENSP00000358624:G1102E	ENSP00000304604:G1102E	G	+	2	0	MAGI3	114025458	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	9.593000	0.98250	2.751000	0.94390	0.650000	0.86243	GGA	MAGI3	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.413	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	G	NM_152900		114223935	+1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	1.000	A
MANBA	4126	genome.wustl.edu	37	4	103579009	103579009	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:103579009C>T	ENST00000226578.4	-	12	1633	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MANBA_ENST00000505239.1_Missense_Mutation_p.E455K	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	512					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.E512K(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GCAACAGTTTCAGCCCCATTT	0.373																																																	1	Substitution - Missense(1)	cervix(1)											80.0	82.0	81.0					4																	103579009		2203	4300	6503	SO:0001583	missense	4126				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1534G>A	4.37:g.103579009C>T	ENSP00000226578:p.Glu512Lys		Q96BC3|Q9NYX9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like	p.E512K	ENST00000226578.4	37	c.1534	CCDS3658.1	4	.	.	.	.	.	.	.	.	.	.	C	4.567	0.105267	0.08731	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.78246	-1.16;-1.16	5.32	-4.27	0.03744	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.270142	0.40554	N	0.001079	T	0.53658	0.1810	N	0.21545	0.675	0.29794	N	0.832988	B;B	0.22480	0.07;0.004	B;B	0.20955	0.032;0.02	T	0.48779	-0.9005	10	0.11485	T	0.65	-16.0977	7.6419	0.28298	0.0:0.4579:0.1052:0.4369	.	455;512	E9PFW2;O00462	.;MANBA_HUMAN	K	512;455	ENSP00000226578:E512K;ENSP00000427322:E455K	ENSP00000226578:E512K	E	-	1	0	MANBA	103798057	0.397000	0.25270	0.000000	0.03702	0.311000	0.27955	0.991000	0.29654	-1.571000	0.01663	-0.142000	0.14014	GAA	MANBA	-	superfamily_Glycoside_hydrolase_SF		0.373	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MANBA	HGNC	protein_coding	OTTHUMT00000253803.2	C			103579009	-1	no_errors	ENST00000226578	ensembl	human	known	70_37	missense	SNP	0.218	T
MANBA	4126	genome.wustl.edu	37	4	103610745	103610745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:103610745C>A	ENST00000226578.4	-	7	1045	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	MANBA_ENST00000505239.1_Nonsense_Mutation_p.E259*	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	316					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.E316*(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GCTGATTTTTCAATATTTAAG	0.303																																																	1	Substitution - Nonsense(1)	cervix(1)											77.0	79.0	78.0					4																	103610745		2203	4300	6503	SO:0001587	stop_gained	4126				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.946G>T	4.37:g.103610745C>A	ENSP00000226578:p.Glu316*		Q96BC3|Q9NYX9	Nonsense_Mutation	SNP	pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like	p.E316*	ENST00000226578.4	37	c.946	CCDS3658.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.412317	0.96072	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	.	.	.	4.94	2.3	0.28687	.	0.334578	0.35096	N	0.003452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-6.1688	7.9761	0.30155	0.0:0.6809:0.0:0.3191	.	.	.	.	X	316;259	.	ENSP00000226578:E316X	E	-	1	0	MANBA	103829793	0.995000	0.38212	0.239000	0.24122	0.841000	0.47740	0.225000	0.17757	0.370000	0.24538	0.655000	0.94253	GAA	MANBA	-	superfamily_Glyco_hydro_2_Ig-like		0.303	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MANBA	HGNC	protein_coding	OTTHUMT00000253803.2	C			103610745	-1	no_errors	ENST00000226578	ensembl	human	known	70_37	nonsense	SNP	0.763	A
MAOA	4128	genome.wustl.edu	37	X	43515648	43515648	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:43515648G>A	ENST00000338702.3	+	1	182	c.59G>A	c.(58-60)gGa>gAa	p.G20E	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	20					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)	p.G20E(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GTCGTGATCGGAGGTGGCATT	0.602																																																	1	Substitution - Missense(1)	cervix(1)											140.0	80.0	101.0					X																	43515648		2203	4300	6503	SO:0001583	missense	4128				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.59G>A	X.37:g.43515648G>A	ENSP00000340684:p.Gly20Glu		B4DF46|Q16426	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase	p.G20E	ENST00000338702.3	37	c.59	CCDS14260.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960117	0.74016	.	.	ENSG00000189221	ENST00000338702	D	0.85258	-1.96	4.11	4.11	0.48088	.	0.224065	0.46145	D	0.000311	D	0.94447	0.8213	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95106	0.8234	10	0.87932	D	0	.	10.7166	0.46015	0.0:0.0:1.0:0.0	.	20	P21397	AOFA_HUMAN	E	20	ENSP00000340684:G20E	ENSP00000340684:G20E	G	+	2	0	MAOA	43400592	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.888000	0.56204	2.291000	0.77112	0.508000	0.49915	GGA	MAOA	-	pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase		0.602	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOA	HGNC	protein_coding	OTTHUMT00000056300.1	G	NM_000240		43515648	+1	no_errors	ENST00000338702	ensembl	human	known	70_37	missense	SNP	1.000	A
MAP1A	4130	genome.wustl.edu	37	15	43814640	43814640	+	Silent	SNP	C	C	G	rs201259084		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:43814640C>G	ENST00000300231.5	+	4	1419	c.969C>G	c.(967-969)ctC>ctG	p.L323L	MAP1A_ENST00000382031.1_Silent_p.L561L|MAP1A_ENST00000399453.1_Silent_p.L323L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	323	Lys-rich (basic).				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.L323L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGGAGAGCCTCAAAGCCACTA	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											42.0	46.0	44.0					15																	43814640		2056	4208	6264	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.969C>G	15.37:g.43814640C>G			O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	NULL	p.L323	ENST00000300231.5	37	c.969	CCDS42031.1	15																																																																																			MAP1A	-	NULL		0.582	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	C	NM_002373		43814640	+1	no_errors	ENST00000399453	ensembl	human	known	70_37	silent	SNP	1.000	G
MAP1B	4131	genome.wustl.edu	37	5	71494088	71494088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:71494088C>T	ENST00000296755.7	+	5	5204	c.4906C>T	c.(4906-4908)Caa>Taa	p.Q1636*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1636					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)	p.Q1636*(1)		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)		GACACCCGTTCAAGATCACAG	0.448																																					Melanoma(17;367 822 11631 31730 47712)												1	Substitution - Nonsense(1)	cervix(1)											106.0	111.0	109.0					5																	71494088		2203	4300	6503	SO:0001587	stop_gained	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.4906C>T	5.37:g.71494088C>T	ENSP00000296755:p.Gln1636*		A2BDK5	Nonsense_Mutation	SNP	pfam_MAP1B_neuraxin	p.Q1636*	ENST00000296755.7	37	c.4906	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	45	11.926249	0.99618	.	.	ENSG00000131711	ENST00000296755	.	.	.	5.19	5.19	0.71726	.	0.098954	0.45126	D	0.000400	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-17.0432	18.7095	0.91651	0.0:1.0:0.0:0.0	.	.	.	.	X	1636	.	ENSP00000296755:Q1636X	Q	+	1	0	MAP1B	71529844	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.487000	0.81328	2.435000	0.82474	0.313000	0.20887	CAA	MAP1B	-	NULL		0.448	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71494088	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	nonsense	SNP	0.999	T
MAP1LC3A	84557	genome.wustl.edu	37	20	33147542	33147542	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:33147542G>A	ENST00000360668.3	+	4	967	c.206G>A	c.(205-207)cGc>cAc	p.R69H	MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R73H|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R69H			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	69					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)	p.R73H(1)		cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						GGCTGCAGGCGCCGCCTGCAG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											29.0	38.0	35.0					20																	33147542		2193	4288	6481	SO:0001583	missense	84557				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.206G>A	20.37:g.33147542G>A	ENSP00000353886:p.Arg69His		E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	p.R69H	ENST00000360668.3	37	c.206	CCDS13238.1	20	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883492	0.91740	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.50548	0.74;0.74;0.74	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	M	0.74881	2.28	0.80722	D	1	P;D	0.71674	0.653;0.998	B;P	0.57324	0.388;0.818	T	0.70952	-0.4732	10	0.87932	D	0	-7.2771	18.3968	0.90502	0.0:0.0:1.0:0.0	.	69;73	Q9H492;Q9H492-2	MLP3A_HUMAN;.	H	73;69;69	ENSP00000363970:R73H;ENSP00000353886:R69H;ENSP00000380821:R69H	ENSP00000353886:R69H	R	+	2	0	MAP1LC3A	32611203	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	9.774000	0.98992	2.434000	0.82447	0.313000	0.20887	CGC	MAP1LC3A	-	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12		0.632	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3A	HGNC	protein_coding	OTTHUMT00000078801.2	G	NM_181509		33147542	+1	no_errors	ENST00000360668	ensembl	human	known	70_37	missense	SNP	1.000	A
MAP2	4133	genome.wustl.edu	37	2	210594968	210594968	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:210594968G>A	ENST00000360351.4	+	15	5837	c.5331G>A	c.(5329-5331)gaG>gaA	p.E1777E	MAP2_ENST00000447185.1_Silent_p.E1773E|MAP2_ENST00000199940.6_Silent_p.E509E|MAP2_ENST00000392194.1_Silent_p.E421E|MAP2_ENST00000361559.4_Silent_p.E421E	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1777					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.E509E(1)|p.E1777E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATGGGGCTGAGATCATTACAC	0.517																																					Pancreas(27;423 979 28787 29963)												2	Substitution - coding silent(2)	cervix(2)											92.0	83.0	86.0					2																	210594968		2203	4300	6503	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5331G>A	2.37:g.210594968G>A			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.E1777	ENST00000360351.4	37	c.5331	CCDS2384.1	2																																																																																			MAP2	-	NULL		0.517	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210594968	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	silent	SNP	1.000	A
MAP3K5	4217	genome.wustl.edu	37	6	136934380	136934380	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:136934380G>A	ENST00000359015.4	-	17	2653	c.2293C>T	c.(2293-2295)Ctc>Ttc	p.L765F	MAP3K5_ENST00000355845.4_Missense_Mutation_p.L12F	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	765	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)	p.L765F(1)		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)		GAACGAAGGAGAGCAGAAAGA	0.318																																																	1	Substitution - Missense(1)	cervix(1)											88.0	83.0	84.0					6																	136934380		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.2293C>T	6.37:g.136934380G>A	ENSP00000351908:p.Leu765Phe		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.L765F	ENST00000359015.4	37	c.2293	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191578	0.58017	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.66638	-0.22;-0.22	5.67	5.67	0.87782	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	0.78071	0.4226	M	0.64676	1.99	0.80722	D	1	P;D	0.89917	0.691;1.0	P;D	0.91635	0.5;0.999	T	0.78380	-0.2226	10	0.62326	D	0.03	.	19.7547	0.96285	0.0:0.0:1.0:0.0	.	845;765	Q59GL6;Q99683	.;M3K5_HUMAN	F	765;12;845	ENSP00000351908:L765F;ENSP00000348104:L12F	ENSP00000348104:L12F	L	-	1	0	MAP3K5	136976073	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.311000	0.72835	2.667000	0.90743	0.655000	0.94253	CTC	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.318	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	G			136934380	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	1.000	A
MAP3K8	1326	genome.wustl.edu	37	10	30748220	30748220	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:30748220G>C	ENST00000263056.1	+	8	1759	c.1063G>C	c.(1063-1065)Gat>Cat	p.D355H	MAP3K8_ENST00000375321.1_Missense_Mutation_p.D355H|MAP3K8_ENST00000542547.1_Missense_Mutation_p.D355H	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	355	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.D355H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AGACATTGCAGATGACTGCAG	0.498																																																	1	Substitution - Missense(1)	cervix(1)											71.0	75.0	74.0					10																	30748220		2203	4300	6503	SO:0001583	missense	1326			D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1063G>C	10.37:g.30748220G>C	ENSP00000263056:p.Asp355His		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	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.D355H	ENST00000263056.1	37	c.1063	CCDS7166.1	10	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038523	0.19669	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.66099	-0.19;-0.19;-0.19	4.91	2.82	0.32997	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.522888	0.22121	N	0.064336	T	0.62109	0.2401	L	0.47716	1.5	0.09310	N	1	B	0.22746	0.074	B	0.35770	0.21	T	0.62431	-0.6856	10	0.62326	D	0.03	.	16.3902	0.83532	0.0:0.2663:0.7337:0.0	.	355	P41279	M3K8_HUMAN	H	355	ENSP00000263056:D355H;ENSP00000443610:D355H;ENSP00000364470:D355H	ENSP00000263056:D355H	D	+	1	0	MAP3K8	30788226	1.000000	0.71417	0.001000	0.08648	0.511000	0.34104	5.019000	0.64060	1.033000	0.39918	0.638000	0.83543	GAT	MAP3K8	-	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		0.498	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAP3K8	HGNC	protein_coding	OTTHUMT00000047416.2	G	NM_005204		30748220	+1	no_errors	ENST00000263056	ensembl	human	known	70_37	missense	SNP	0.017	C
MARCO	8685	genome.wustl.edu	37	2	119731963	119731963	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:119731963G>A	ENST00000327097.4	+	5	650	c.515G>A	c.(514-516)gGa>gAa	p.G172E	MARCO_ENST00000541757.1_Missense_Mutation_p.G94E	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	172	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.G172E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGCCCGCCGGGACCACCTGCT	0.562																																					GBM(8;18 374 7467 11269 32796)												1	Substitution - Missense(1)	cervix(1)											74.0	77.0	76.0					2																	119731963		2202	4300	6502	SO:0001583	missense	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.515G>A	2.37:g.119731963G>A	ENSP00000318916:p.Gly172Glu		B4DW79|Q9Y5S3	Missense_Mutation	SNP	pfam_Collagen,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.G172E	ENST00000327097.4	37	c.515	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	G	7.313	0.615411	0.14129	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.99619	-6.28;-6.28	3.89	2.04	0.26737	.	0.262756	0.30020	N	0.010620	D	0.99545	0.9837	H	0.96365	3.81	0.09310	N	1	D	0.58620	0.983	P	0.60415	0.874	D	0.99201	1.0873	9	.	.	.	.	4.7515	0.13063	0.1135:0.0:0.6741:0.2124	.	172	Q9UEW3	MARCO_HUMAN	E	172;172;94	ENSP00000318916:G172E;ENSP00000441769:G94E	.	G	+	2	0	MARCO	119448433	0.001000	0.12720	0.001000	0.08648	0.022000	0.10575	0.535000	0.23114	0.404000	0.25506	0.561000	0.74099	GGA	MARCO	-	pfam_Collagen		0.562	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	G	NM_006770		119731963	+1	no_errors	ENST00000327097	ensembl	human	known	70_37	missense	SNP	0.001	A
MAST3	23031	genome.wustl.edu	37	19	18254649	18254649	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:18254649C>G	ENST00000262811.6	+	21	2329	c.2329C>G	c.(2329-2331)Ctc>Gtc	p.L777V	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	777							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.L799V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CAGCCCATCTCTCCTGAATAC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											38.0	41.0	40.0					19																	18254649		1977	4157	6134	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2329C>G	19.37:g.18254649C>G	ENSP00000262811:p.Leu777Val		Q7LDZ8|Q9UPI0	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.L777V	ENST00000262811.6	37	c.2329	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217495	0.22373	.	.	ENSG00000099308	ENST00000262811	T	0.66815	-0.23	4.82	-3.82	0.04281	.	0.217762	0.39210	N	0.001428	T	0.43010	0.1228	N	0.25245	0.725	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.30765	-0.9967	10	0.26408	T	0.33	-13.8773	9.2978	0.37827	0.0:0.2207:0.6009:0.1784	.	777	O60307	MAST3_HUMAN	V	777	ENSP00000262811:L777V	ENSP00000262811:L777V	L	+	1	0	MAST3	18115649	0.122000	0.22280	0.004000	0.12327	0.858000	0.48976	0.579000	0.23788	0.057000	0.16193	0.491000	0.48974	CTC	MAST3	-	NULL		0.612	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18254649	+1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	0.117	G
MAST4	375449	genome.wustl.edu	37	5	66438035	66438035	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:66438035G>C	ENST00000403625.2	+	20	2882	c.2587G>C	c.(2587-2589)Gaa>Caa	p.E863Q	MAST4_ENST00000261569.7_Missense_Mutation_p.E669Q|MAST4_ENST00000403666.1_Missense_Mutation_p.E674Q|MAST4_ENST00000404260.3_Missense_Mutation_p.E866Q|MAST4_ENST00000405643.1_Missense_Mutation_p.E684Q	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	866	AGC-kinase C-terminal.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E866Q(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCCCAACTGGAATCTGAGGA	0.378																																																	1	Substitution - Missense(1)	cervix(1)											116.0	111.0	112.0					5																	66438035		1881	4099	5980	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2587G>C	5.37:g.66438035G>C	ENSP00000385727:p.Glu863Gln		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	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.E866Q	ENST00000403625.2	37	c.2596	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994380	0.93167	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.42	5.42	0.78866	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	M	0.89715	3.055	0.53005	D	0.999966	P;D;D;P	0.89917	0.903;0.999;1.0;0.942	P;D;D;P	0.77557	0.766;0.96;0.99;0.882	T	0.68693	-0.5341	10	0.72032	D	0.01	-23.292	19.5705	0.95413	0.0:0.0:1.0:0.0	.	684;866;669;674	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	Q	866;863;674;684;684;669;669	ENSP00000385048:E866Q;ENSP00000385727:E863Q;ENSP00000384313:E674Q;ENSP00000384099:E684Q;ENSP00000261569:E669Q	ENSP00000261569:E669Q	E	+	1	0	MAST4	66473791	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.715000	0.92844	0.655000	0.94253	GAA	MAST4	-	superfamily_Kinase-like_dom		0.378	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	G			66438035	+1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	1.000	C
MASTL	84930	genome.wustl.edu	37	10	27454084	27454084	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:27454084C>T	ENST00000375940.4	+	5	702	c.645C>T	c.(643-645)atC>atT	p.I215I	MASTL_ENST00000342386.6_Silent_p.I215I|MASTL_ENST00000375946.4_Silent_p.I215I			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.I215I(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TATCGCTTATCAGCTCGTTGG	0.333																																																	1	Substitution - coding silent(1)	cervix(1)											84.0	82.0	83.0					10																	27454084		2203	4300	6503	SO:0001819	synonymous_variant	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.645C>T	10.37:g.27454084C>T			Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	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.I215	ENST00000375940.4	37	c.645	CCDS53502.1	10																																																																																			MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.333	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	C	NM_032844		27454084	+1	no_errors	ENST00000375940	ensembl	human	known	70_37	silent	SNP	1.000	T
MBTD1	54799	genome.wustl.edu	37	17	49284274	49284274	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:49284274C>G	ENST00000586178.1	-	7	922	c.579G>C	c.(577-579)tgG>tgC	p.W193C	MBTD1_ENST00000415868.1_Missense_Mutation_p.W193C|MBTD1_ENST00000376381.2_Missense_Mutation_p.W193C	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	193					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.W29C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TTCCAGCAATCCAGAAGACTT	0.398																																																	1	Substitution - Missense(1)	cervix(1)											124.0	121.0	122.0					17																	49284274		2203	4300	6503	SO:0001583	missense	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.579G>C	17.37:g.49284274C>G	ENSP00000468304:p.Trp193Cys		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.W193C	ENST00000586178.1	37	c.579	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376317	0.82682	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.23552	1.9;1.9	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	L	0.28608	0.87	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	0.05517	-1.0880	10	0.10636	T	0.68	.	19.1957	0.93689	0.0:1.0:0.0:0.0	.	193;193;29	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	C	193	ENSP00000403946:W193C;ENSP00000365561:W193C	ENSP00000365561:W193C	W	-	3	0	MBTD1	46639273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.531000	0.85337	0.655000	0.94253	TGG	MBTD1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.398	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	C			49284274	-1	no_errors	ENST00000415868	ensembl	human	known	70_37	missense	SNP	1.000	G
MC5R	4161	genome.wustl.edu	37	18	13825853	13825853	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:13825853C>T	ENST00000324750.3	+	1	311	c.89C>T	c.(88-90)tCt>tTt	p.S30F	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	30					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.S30F(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AAAAACAAGTCTTCACCATGT	0.468																																																	1	Substitution - Missense(1)	cervix(1)											88.0	85.0	86.0					18																	13825853		2203	4300	6503	SO:0001583	missense	4161			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.89C>T	18.37:g.13825853C>T	ENSP00000318077:p.Ser30Phe		B0YJ34|Q502V1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.S30F	ENST00000324750.3	37	c.89	CCDS11868.1	18	.	.	.	.	.	.	.	.	.	.	C	4.872	0.162070	0.09287	.	.	ENSG00000176136	ENST00000324750	T	0.39406	1.08	5.19	3.29	0.37713	.	0.462003	0.23069	N	0.052282	T	0.22166	0.0534	N	0.08118	0	0.09310	N	0.999999	B	0.12013	0.005	B	0.09377	0.004	T	0.19224	-1.0312	10	0.72032	D	0.01	.	8.7763	0.34765	0.1494:0.771:0.0:0.0796	.	30	P33032	MC5R_HUMAN	F	30	ENSP00000318077:S30F	ENSP00000318077:S30F	S	+	2	0	MC5R	13815853	0.632000	0.27172	0.015000	0.15790	0.013000	0.08279	3.402000	0.52608	1.190000	0.43042	0.455000	0.32223	TCT	MC5R	-	prints_Melancort_rcpt_5		0.468	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC5R	HGNC	protein_coding	OTTHUMT00000254638.1	C	NM_005913		13825853	+1	no_errors	ENST00000324750	ensembl	human	known	70_37	missense	SNP	0.023	T
MCF2L	23263	genome.wustl.edu	37	13	113742677	113742677	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:113742677G>A	ENST00000375608.3	+	25	2873	c.2815G>A	c.(2815-2817)Gaa>Aaa	p.E939K	MCF2L_ENST00000423482.2_Missense_Mutation_p.E907K|MCF2L_ENST00000442652.2_Missense_Mutation_p.E939K|MCF2L_ENST00000375601.3_Missense_Mutation_p.E913K|MCF2L_ENST00000434480.2_Missense_Mutation_p.E915K|MCF2L_ENST00000397030.1_Missense_Mutation_p.E942K|MCF2L_ENST00000421756.1_Missense_Mutation_p.E913K|MCF2L_ENST00000375604.2_Missense_Mutation_p.E966K|MCF2L_ENST00000535094.2_Missense_Mutation_p.E909K|MCF2L_ENST00000375597.4_Missense_Mutation_p.E907K			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	939	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E913K(1)|p.E966K(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTGGGTGAATGAAATTCGGAA	0.542																																																	2	Substitution - Missense(2)	cervix(2)											108.0	112.0	110.0					13																	113742677		2203	4300	6503	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2815G>A	13.37:g.113742677G>A	ENSP00000364758:p.Glu939Lys		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E966K	ENST00000375608.3	37	c.2896		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.55|15.55	2.866491|2.866491	0.51588|0.51588	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000413354;ENST00000261963	T;T;T;T;T;T;T;T;T;T|.	0.75050|.	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;-0.9|.	4.14|4.14	3.28|3.28	0.37604|0.37604	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70587|0.70587	0.3241|0.3241	M|M	0.70787|0.70787	2.145|2.145	0.53688|0.53688	D|D	0.999976|0.999976	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.996;1.0|.	D;D;D;D;D|.	0.79108|.	0.986;0.986;0.986;0.931;0.992|.	T|T	0.69386|0.69386	-0.5159|-0.5159	10|5	0.87932|.	D|.	0|.	.|.	13.0223|13.0223	0.58796|0.58796	0.0:0.0:0.8374:0.1626|0.0:0.0:0.8374:0.1626	.|.	907;909;966;907;939|.	E9PDN8;O15068-9;G5E9A1;O15068-4;O15068|.	.;.;.;.;MCF2L_HUMAN|.	K|I	939;939;966;942;909;913;913;915;907;907;750|138;79	ENSP00000364758:E939K;ENSP00000401422:E939K;ENSP00000364754:E966K;ENSP00000380225:E942K;ENSP00000440374:E909K;ENSP00000397285:E913K;ENSP00000364751:E913K;ENSP00000407722:E915K;ENSP00000405639:E907K;ENSP00000364747:E907K|.	ENSP00000364747:E907K|.	E|M	+|+	1|3	0|0	MCF2L|MCF2L	112790678|112790678	1.000000|1.000000	0.71417|0.71417	0.052000|0.052000	0.19188|0.19188	0.018000|0.018000	0.09664|0.09664	8.666000|8.666000	0.91149|0.91149	0.702000|0.702000	0.31825|0.31825	0.563000|0.563000	0.77884|0.77884	GAA|ATG	MCF2L	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.542	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	G			113742677	+1	no_errors	ENST00000375604	ensembl	human	known	70_37	missense	SNP	1.000	A
MCM8	84515	genome.wustl.edu	37	20	5974253	5974253	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:5974253C>G	ENST00000378896.3	+	18	2719	c.2342C>G	c.(2341-2343)tCt>tGt	p.S781C	MCM8_ENST00000378883.1_Missense_Mutation_p.S734C|MCM8_ENST00000378886.2_Missense_Mutation_p.S821C|MCM8_ENST00000265187.4_Missense_Mutation_p.S765C	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	781					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S781C(1)|p.S765C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGATTTATTTCTGCTCTCAAC	0.368																																																	2	Substitution - Missense(2)	cervix(2)											61.0	66.0	65.0					20																	5974253		2203	4300	6503	SO:0001583	missense	84515			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2342C>G	20.37:g.5974253C>G	ENSP00000368174:p.Ser781Cys		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.S821C	ENST00000378896.3	37	c.2462	CCDS13094.1	20	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464366	0.84425	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.03152	4.1;4.03;4.1;4.1	5.82	5.82	0.92795	.	0.107871	0.64402	D	0.000003	T	0.18882	0.0453	M	0.75264	2.295	0.54753	D	0.999983	D;D;D;D	0.71674	0.998;0.997;0.993;0.997	D;P;P;P	0.64595	0.927;0.848;0.887;0.848	T	0.00017	-1.2378	10	0.66056	D	0.02	-17.8435	20.1092	0.97906	0.0:1.0:0.0:0.0	.	734;821;765;781	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	C	781;734;821;765	ENSP00000368174:S781C;ENSP00000368161:S734C;ENSP00000368164:S821C;ENSP00000265187:S765C	ENSP00000265187:S765C	S	+	2	0	MCM8	5922253	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.463000	0.60128	2.745000	0.94114	0.655000	0.94253	TCT	MCM8	-	NULL		0.368	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1	C	NM_032485		5974253	+1	no_errors	ENST00000378886	ensembl	human	known	70_37	missense	SNP	1.000	G
MECP2	4204	genome.wustl.edu	37	X	153296200	153296200	+	Missense_Mutation	SNP	G	G	A	rs61752372|rs267608562		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:153296200G>A	ENST00000303391.6	-	4	1328	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	MECP2_ENST00000453960.2_Missense_Mutation_p.S372L|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	360					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.S360L(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGGGGGTGAGGAGGCGCT	0.657																																																	1	Substitution - Missense(1)	cervix(1)	GRCh37	CM003458	MECP2	M	rs61752372						25.0	28.0	27.0					X																	153296200		2197	4291	6488	SO:0001583	missense	4204			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.1079C>T	X.37:g.153296200G>A	ENSP00000301948:p.Ser360Leu		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.S360L	ENST00000303391.6	37	c.1079	CCDS14741.1	X	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693351	0.48202	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.90133	-2.62;-2.61	5.11	5.11	0.69529	.	0.710569	0.14091	N	0.342000	D	0.86682	0.5991	N	0.08118	0	0.80722	D	1	P;P	0.50528	0.936;0.743	P;B	0.50049	0.629;0.425	D	0.88655	0.3185	10	0.72032	D	0.01	-6.0317	16.3245	0.82970	0.0:0.0:1.0:0.0	.	372;360	P51608-2;P51608	.;MECP2_HUMAN	L	360;360;372	ENSP00000301948:S360L;ENSP00000395535:S372L	ENSP00000301948:S360L	S	-	2	0	MECP2	152949394	0.997000	0.39634	0.937000	0.37676	0.930000	0.56654	3.404000	0.52623	2.374000	0.81015	0.529000	0.55759	TCA	MECP2	-	pirsf_Me_CpG-bd_MeCP2		0.657	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1	G	NM_004992		153296200	-1	no_errors	ENST00000303391	ensembl	human	known	70_37	missense	SNP	0.993	A
MECP2	4204	genome.wustl.edu	37	X	153296613	153296613	+	Silent	SNP	G	G	A	rs61749735		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:153296613G>A	ENST00000303391.6	-	4	915	c.666C>T	c.(664-666)gtC>gtT	p.V222V	MECP2_ENST00000453960.2_Silent_p.V234V|MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	222					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.V222V(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGCATCTTGACAAGGAGCT	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											129.0	131.0	130.0					X																	153296613		2203	4300	6503	SO:0001819	synonymous_variant	4204			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.666C>T	X.37:g.153296613G>A			O15233|Q6QHH9|Q7Z384	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.V222	ENST00000303391.6	37	c.666	CCDS14741.1	X																																																																																			MECP2	-	superfamily_Ig_E-set,pirsf_Me_CpG-bd_MeCP2		0.617	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1	G	NM_004992		153296613	-1	no_errors	ENST00000303391	ensembl	human	known	70_37	silent	SNP	1.000	A
MED1	5469	genome.wustl.edu	37	17	37565328	37565328	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:37565328G>C	ENST00000300651.6	-	17	3369	c.3146C>G	c.(3145-3147)tCt>tGt	p.S1049C	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	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)	p.S1049C(1)		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)		GGGAGTCTGAGATCTTCCTGC	0.502										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												1	Substitution - Missense(1)	cervix(1)											125.0	121.0	122.0					17																	37565328		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.3146C>G	17.37:g.37565328G>C	ENSP00000300651:p.Ser1049Cys		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.S1049C	ENST00000300651.6	37	c.3146	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731706	0.48939	.	.	ENSG00000125686	ENST00000300651	T	0.43294	0.95	5.87	4.9	0.64082	.	.	.	.	.	T	0.53578	0.1805	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59674	-0.7410	9	0.66056	D	0.02	-4.974	17.5919	0.87999	0.0:0.1232:0.8768:0.0	.	1049	Q15648	MED1_HUMAN	C	1049	ENSP00000300651:S1049C	ENSP00000300651:S1049C	S	-	2	0	MED1	34818854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.677000	0.84024	1.601000	0.50113	0.655000	0.94253	TCT	MED1	-	NULL		0.502	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	G	NM_004774		37565328	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	C
MED12L	116931	genome.wustl.edu	37	3	151067972	151067972	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:151067972G>A	ENST00000474524.1	+	15	2309	c.2271G>A	c.(2269-2271)aaG>aaA	p.K757K	MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Silent_p.K617K|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	757						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K757K(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTAAATAAGAAGAGCACCA	0.443																																																	1	Substitution - coding silent(1)	cervix(1)											100.0	104.0	103.0					3																	151067972		2203	4300	6503	SO:0001819	synonymous_variant	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2271G>A	3.37:g.151067972G>A			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.K757	ENST00000474524.1	37	c.2271	CCDS33876.1	3																																																																																			MED12L	-	NULL		0.443	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	G	NM_053002		151067972	+1	no_errors	ENST00000474524	ensembl	human	known	70_37	silent	SNP	1.000	A
MED16	10025	genome.wustl.edu	37	19	881596	881596	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:881596G>C	ENST00000589119.1	-	6	1103	c.1104C>G	c.(1102-1104)ctC>ctG	p.L368L	MED16_ENST00000312090.6_Silent_p.L368L|MED16_ENST00000395808.3_Silent_p.L368L|MED16_ENST00000269814.4_Silent_p.L368L|MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Silent_p.L368L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	368					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L368L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		TGGCCACCTTGAGGTCGGTGT	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											85.0	75.0	79.0					19																	881596		2203	4295	6498	SO:0001819	synonymous_variant	10025			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1104C>G	19.37:g.881596G>C			Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L368	ENST00000589119.1	37	c.1104	CCDS12047.1	19																																																																																			MED16	-	pfam_Mediator_Med16,superfamily_WD40_repeat_dom		0.642	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3	G	NM_005481		881596	-1	no_errors	ENST00000325464	ensembl	human	known	70_37	silent	SNP	0.995	C
MED19	219541	genome.wustl.edu	37	11	57472622	57472622	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:57472622C>T	ENST00000431606.2	-	2	326	c.297G>A	c.(295-297)aaG>aaA	p.K99K	MED19_ENST00000337672.2_Silent_p.K99K			A0JLT2	MED19_HUMAN	mediator complex subunit 19	99						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K99K(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						CCTTCACCTTCTTCCCACAGA	0.468																																																	1	Substitution - coding silent(1)	cervix(1)											95.0	94.0	95.0					11																	57472622		2201	4296	6497	SO:0001819	synonymous_variant	219541			AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"""mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"""			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.297G>A	11.37:g.57472622C>T			Q8IV02|Q8IZD1	Silent	SNP	pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34	p.K99	ENST00000431606.2	37	c.297		11																																																																																			MED19	-	pfam_Mediator_Med19_met		0.468	MED19-002	KNOWN	basic|appris_principal	protein_coding	MED19	HGNC	protein_coding	OTTHUMT00000393702.1	C	NM_153450		57472622	-1	no_errors	ENST00000431606	ensembl	human	known	70_37	silent	SNP	1.000	T
MEGF10	84466	genome.wustl.edu	37	5	126746176	126746176	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:126746176C>A	ENST00000274473.6	+	10	1280	c.1013C>A	c.(1012-1014)gCa>gAa	p.A338E	MEGF10_ENST00000508365.1_Missense_Mutation_p.A338E|MEGF10_ENST00000503335.2_Missense_Mutation_p.A338E|MEGF10_ENST00000418761.2_Missense_Mutation_p.A338E	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	338	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.A338E(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTGAGCGGCGCATGCCTCTGT	0.597																																																	1	Substitution - Missense(1)	cervix(1)											119.0	99.0	106.0					5																	126746176		2203	4300	6503	SO:0001583	missense	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1013C>A	5.37:g.126746176C>A	ENSP00000274473:p.Ala338Glu		Q68DE5|Q8WUL3	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.A338E	ENST00000274473.6	37	c.1013	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679247	0.29783	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.93	5.93	0.95920	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.504726	0.18719	N	0.133100	T	0.44329	0.1288	L	0.41906	1.305	0.20926	N	0.999824	B;P	0.44521	0.007;0.837	B;P	0.49597	0.038;0.616	T	0.28839	-1.0031	10	0.27082	T	0.32	-0.9989	20.3539	0.98825	0.0:1.0:0.0:0.0	.	338;338	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	E	338	ENSP00000423354:A338E;ENSP00000423195:A338E;ENSP00000416284:A338E;ENSP00000274473:A338E	ENSP00000274473:A338E	A	+	2	0	MEGF10	126774075	0.675000	0.27558	0.033000	0.17914	0.011000	0.07611	3.896000	0.56266	2.826000	0.97356	0.655000	0.94253	GCA	MEGF10	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom		0.597	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	C	NM_032446		126746176	+1	no_errors	ENST00000274473	ensembl	human	known	70_37	missense	SNP	0.244	A
MFAP4	4239	genome.wustl.edu	37	17	19289684	19289684	+	Missense_Mutation	SNP	G	G	C	rs367629703		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:19289684G>C	ENST00000299610.4	-	3	263	c.179C>G	c.(178-180)tCg>tGg	p.S60W	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Missense_Mutation_p.S85W|MFAP4_ENST00000395592.2_Missense_Mutation_p.S84W	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	60	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACTGGGGCCCGAGGGGTAGAT	0.617																																																	0													77.0	58.0	64.0					17																	19289684		2203	4300	6503	SO:0001583	missense	4239			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.179C>G	17.37:g.19289684G>C	ENSP00000299610:p.Ser60Trp		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.S84W	ENST00000299610.4	37	c.251	CCDS11208.1	17	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163917	0.57476	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.77750	-1.12;-1.12	5.3	-0.306	0.12780	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.713711	0.12374	N	0.474513	T	0.80433	0.4622	L	0.55990	1.75	0.09310	N	1	D;D	0.57571	0.98;0.98	P;D	0.66196	0.908;0.942	T	0.67300	-0.5705	10	0.66056	D	0.02	.	4.4206	0.11479	0.2342:0.0:0.4911:0.2747	.	60;84	P55083;A8MVM2	MFAP4_HUMAN;.	W	84;60	ENSP00000378957:S84W;ENSP00000299610:S60W	ENSP00000299610:S60W	S	-	2	0	MFAP4	19230277	0.032000	0.19561	0.457000	0.27056	0.970000	0.65996	1.174000	0.31932	-0.047000	0.13423	-0.355000	0.07637	TCG	MFAP4	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.617	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP4	HGNC	protein_coding	OTTHUMT00000132493.2	G	NM_002404		19289684	-1	no_errors	ENST00000395592	ensembl	human	known	70_37	missense	SNP	0.006	C
MFSD10	10227	genome.wustl.edu	37	4	2935543	2935543	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:2935543G>C	ENST00000329687.4	-	1	642	c.108C>G	c.(106-108)ctC>ctG	p.L36L	MFSD10_ENST00000514800.1_Silent_p.L36L|MFSD10_ENST00000507555.1_Silent_p.L36L|NOP14-AS1_ENST00000515194.1_RNA|MFSD10_ENST00000355443.4_Silent_p.L36L|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000508221.1_Silent_p.L36L|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000512712.2_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	36					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)	p.L36L(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGAAGGCCAGGAGGTCCAGCA	0.731																																																	1	Substitution - coding silent(1)	cervix(1)											27.0	28.0	28.0					4																	2935543		2195	4286	6481	SO:0001819	synonymous_variant	10227			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.108C>G	4.37:g.2935543G>C			Q07706	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L36	ENST00000329687.4	37	c.108	CCDS3365.1	4																																																																																			MFSD10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.731	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD10	HGNC	protein_coding	OTTHUMT00000358072.2	G	NM_001120		2935543	-1	no_errors	ENST00000329687	ensembl	human	known	70_37	silent	SNP	0.968	C
MFSD12	126321	genome.wustl.edu	37	19	3557256	3557256	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:3557256G>C	ENST00000355415.2	-	1	315	c.146C>G	c.(145-147)tCg>tGg	p.S49W	MFSD12_ENST00000398558.4_Missense_Mutation_p.S49W|MFSD12_ENST00000389395.3_Missense_Mutation_p.S49W|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_Intron|AC005786.5_ENST00000592368.1_lincRNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	49					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.S49W(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GGCGCGCACCGAGTGCAGGTA	0.711																																																	2	Substitution - Missense(2)	cervix(2)											16.0	20.0	19.0					19																	3557256		2083	4217	6300	SO:0001583	missense	126321			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.146C>G	19.37:g.3557256G>C	ENSP00000347583:p.Ser49Trp		A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S49W	ENST00000355415.2	37	c.146	CCDS42465.1	19	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597348	0.66332	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	D;D;D	0.87966	-2.32;-2.32;-2.32	3.59	3.59	0.41128	Major facilitator superfamily domain, general substrate transporter (1);	0.262738	0.32372	N	0.006181	D	0.91222	0.7234	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.70227	0.959;0.944;0.968	D	0.92167	0.5740	10	0.66056	D	0.02	-8.3078	14.6885	0.69068	0.0:0.0:1.0:0.0	.	49;49;49	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	W	49	ENSP00000374046:S49W;ENSP00000381566:S49W;ENSP00000347583:S49W	ENSP00000347583:S49W	S	-	2	0	C19orf28	3508256	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.864000	0.62990	1.985000	0.57927	0.561000	0.74099	TCG	MFSD12	-	superfamily_MFS_dom_general_subst_transpt		0.711	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MFSD12	HGNC	protein_coding	OTTHUMT00000452949.2	G	NM_174983		3557256	-1	no_errors	ENST00000398558	ensembl	human	known	70_37	missense	SNP	0.999	C
MFSD8	256471	genome.wustl.edu	37	4	128842679	128842679	+	Splice_Site	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:128842679C>T	ENST00000296468.3	-	12	1477	c.1350G>A	c.(1348-1350)caG>caA	p.Q450Q	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Splice_Site_p.Q405Q	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	450					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.Q450Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						CCTGGCTTACCTGAGGTTTTG	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											56.0	62.0	60.0					4																	128842679		2203	4300	6503	SO:0001630	splice_region_variant	256471			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1350+1G>A	4.37:g.128842679C>T			B2RDM1|B7Z205|Q8N2P3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Q450	ENST00000296468.3	37	c.1350	CCDS3736.1	4																																																																																			MFSD8	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.378	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	C	NM_152778	Silent	128842679	-1	no_errors	ENST00000296468	ensembl	human	known	70_37	silent	SNP	1.000	T
MIA2	117153	genome.wustl.edu	37	14	39716772	39716772	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:39716772G>A	ENST00000280082.3	+	4	1193	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	MIA2_ENST00000556784.1_Missense_Mutation_p.E331K|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E332K	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	332					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.E332K(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATTAATAGCTGAAGAAAGCAA	0.378																																																	1	Substitution - Missense(1)	cervix(1)											114.0	114.0	114.0					14																	39716772		2203	4300	6503	SO:0001583	missense	117153			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.994G>A	14.37:g.39716772G>A	ENSP00000280082:p.Glu332Lys		A1L4H0|Q9H6C1	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E331K	ENST00000280082.3	37	c.991	CCDS9672.1	14	.	.	.	.	.	.	.	.	.	.	G	5.259	0.233297	0.09969	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.48522	0.86;0.81;3.27	5.33	-10.7	0.00240	.	0.737577	0.11652	N	0.542698	T	0.13841	0.0335	N	0.01505	-0.83	0.09310	N	0.999997	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.42849	-0.9427	9	.	.	.	-2.351	12.525	0.56081	0.1314:0.4707:0.3979:0.0	.	332;332	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	K	332;331;332	ENSP00000280082:E332K;ENSP00000451934:E331K;ENSP00000452252:E332K	.	E	+	1	0	MIA2;RP11-407N17.3	38786523	0.000000	0.05858	0.005000	0.12908	0.320000	0.28249	-0.796000	0.04575	-1.285000	0.02387	-0.355000	0.07637	GAA	MIA2	-	NULL		0.378	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MIA2	HGNC	protein_coding	OTTHUMT00000276768.3	G	NM_054024		39716772	+1	no_errors	ENST00000556784	ensembl	human	known	70_37	missense	SNP	0.000	A
MGAT2	4247	genome.wustl.edu	37	14	50088567	50088567	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:50088567G>C	ENST00000305386.2	+	1	1079	c.581G>C	c.(580-582)aGa>aCa	p.R194T	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	194					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)	p.R194T(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					AGTGACCCTAGAGATTGTCCC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											99.0	101.0	101.0					14																	50088567		2203	4300	6503	SO:0001583	missense	4247			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.581G>C	14.37:g.50088567G>C	ENSP00000307423:p.Arg194Thr		B3KPC5|B3KQM0	Missense_Mutation	SNP	pfam_GlcNAc_II	p.R194T	ENST00000305386.2	37	c.581	CCDS9690.1	14	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903745	0.52333	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.88586	-2.4	6.0	3.96	0.45880	.	0.207947	0.48767	D	0.000170	T	0.81777	0.4894	L	0.34521	1.04	0.29651	N	0.843983	B	0.19200	0.034	B	0.29440	0.102	T	0.70421	-0.4876	10	0.17369	T	0.5	-11.0884	8.9809	0.35964	0.2714:0.0:0.7286:0.0	.	194	Q10469	MGAT2_HUMAN	T	194;200	ENSP00000307423:R194T	ENSP00000307423:R194T	R	+	2	0	MGAT2	49158317	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.801000	0.47908	1.557000	0.49525	0.555000	0.69702	AGA	MGAT2	-	pfam_GlcNAc_II		0.498	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT2	HGNC	protein_coding	OTTHUMT00000276807.1	G	NM_002408		50088567	+1	no_errors	ENST00000305386	ensembl	human	known	70_37	missense	SNP	0.999	C
MICALL1	85377	genome.wustl.edu	37	22	38323718	38323718	+	Missense_Mutation	SNP	C	C	T	rs141260509		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:38323718C>T	ENST00000215957.6	+	9	1892	c.1766C>T	c.(1765-1767)tCa>tTa	p.S589L	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	589	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.S589L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGGGCAGCTCAGGTCCCCAG	0.652																																																	1	Substitution - Missense(1)	cervix(1)						C	LEU/SER	0,4406		0,0,2203	76.0	82.0	80.0		1766	3.2	0.1	22	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MICALL1	NM_033386.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	589/864	38323718	1,13005	2203	4300	6503	SO:0001583	missense	85377			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1766C>T	22.37:g.38323718C>T	ENSP00000215957:p.Ser589Leu		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.S589L	ENST00000215957.6	37	c.1766	CCDS13961.1	22	.	.	.	.	.	.	.	.	.	.	C	8.808	0.934552	0.18206	0.0	1.16E-4	ENSG00000100139	ENST00000215957;ENST00000402631	T;T	0.54479	0.57;1.9	5.35	3.23	0.37069	.	0.680448	0.13866	N	0.357307	T	0.26448	0.0646	N	0.02011	-0.69	0.25956	N	0.982681	B	0.02656	0.0	B	0.04013	0.001	T	0.15037	-1.0451	10	0.30854	T	0.27	.	12.313	0.54940	0.0:0.8601:0.0:0.1399	.	589	Q8N3F8	MILK1_HUMAN	L	589;16	ENSP00000215957:S589L;ENSP00000384608:S16L	ENSP00000215957:S589L	S	+	2	0	MICALL1	36653664	0.190000	0.23276	0.149000	0.22428	0.075000	0.17131	0.588000	0.23924	1.262000	0.44165	0.555000	0.69702	TCA	MICALL1	-	NULL		0.652	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	C	NM_033386		38323718	+1	no_errors	ENST00000215957	ensembl	human	known	70_37	missense	SNP	0.760	T
MIER1	57708	genome.wustl.edu	37	1	67423853	67423853	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:67423853G>A	ENST00000355356.3	+	4	441	c.292G>A	c.(292-294)Gat>Aat	p.D98N	MIER1_ENST00000371016.1_Missense_Mutation_p.D115N|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000401041.1_Missense_Mutation_p.D151N|MIER1_ENST00000401042.3_Missense_Mutation_p.D98N|MIER1_ENST00000371018.3_Missense_Mutation_p.D115N|MIER1_ENST00000355977.6_Missense_Mutation_p.D35N|MIER1_ENST00000371014.1_Missense_Mutation_p.D151N|MIER1_ENST00000357692.2_Missense_Mutation_p.D115N	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	98	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.D98N(1)|p.D151N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						aggtgaagatgatgaagaTGC	0.368																																																	2	Substitution - Missense(2)	cervix(2)											110.0	113.0	112.0					1																	67423853		2034	4197	6231	SO:0001583	missense	57708				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.292G>A	1.37:g.67423853G>A	ENSP00000347514:p.Asp98Asn		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.D151N	ENST00000355356.3	37	c.451	CCDS41348.1	1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976824	0.53720	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.41758	2.01;0.99;2.01;2.01;2.01;2.01;2.01;2.01	5.42	5.42	0.78866	.	0.629307	0.16724	N	0.202146	T	0.25901	0.0631	L	0.29908	0.895	0.58432	D	0.999999	P;P;B;B;B;P;P;P;P	0.49358	0.923;0.454;0.358;0.001;0.001;0.651;0.557;0.57;0.773	B;B;B;B;B;B;B;B;P	0.48982	0.423;0.053;0.08;0.004;0.001;0.165;0.12;0.25;0.597	T	0.01287	-1.1395	10	0.18276	T	0.48	-23.5459	13.5375	0.61653	0.076:0.0:0.9239:0.0	.	115;115;98;98;35;122;115;151;151	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	N	119;115;35;115;151;115;151;98;98	ENSP00000360057:D115N;ENSP00000348253:D35N;ENSP00000350321:D115N;ENSP00000383820:D151N;ENSP00000360055:D115N;ENSP00000360053:D151N;ENSP00000383821:D98N;ENSP00000347514:D98N	ENSP00000347514:D98N	D	+	1	0	MIER1	67196441	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	8.923000	0.92808	2.702000	0.92279	0.591000	0.81541	GAT	MIER1	-	NULL		0.368	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	G	NM_020948		67423853	+1	no_errors	ENST00000401041	ensembl	human	known	70_37	missense	SNP	1.000	A
GLYCTK	132158	genome.wustl.edu	37	3	52328287	52328287	+	IGR	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:52328287C>G	ENST00000436784.2	+	0	1982				GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK-AS1_ENST00000472761.1_RNA|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000354773.4_3'UTR			Q8IVS8	GLCTK_HUMAN	glycerate kinase						protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GCAGTAGAATCACATAGGAAT	0.592																																																	0													95.0	96.0	96.0					3																	52328287		1568	3582	5150	SO:0001628	intergenic_variant	406925				CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380		3.37:g.52328287C>G			Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	RNA	SNP	-	NULL	ENST00000436784.2	37	NULL	CCDS2852.1	3																																																																																			MIR135A1	-	-		0.592	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR135A1	HGNC	protein_coding	OTTHUMT00000350835.1	C	NM_145262		52328287	-1	no_errors	ENST00000385191	ensembl	human	known	70_37	rna	SNP	1.000	G
WDR81	124997	genome.wustl.edu	37	17	1616845	1616845	+	5'Flank	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:1616845C>T	ENST00000309182.5	+	0	0				MIR22HG_ENST00000362190.1_lincRNA|WDR81_ENST00000437219.2_5'Flank	NM_152348.3	NP_689561.2	Q562E7	WDR81_HUMAN	WD repeat domain 81						negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTTTAGTATCACTTTTCCCT	0.493																																																	0																																										SO:0001631	upstream_gene_variant	84981			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941		17.37:g.1616845C>T	Exception_encountered		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	RNA	SNP	-	NULL	ENST00000309182.5	37	NULL		17																																																																																			MIR22HG	-	-		0.493	WDR81-002	KNOWN	basic|appris_candidate	protein_coding	MIR22HG	HGNC	protein_coding	OTTHUMT00000338064.3	C	NM_152348		1616845	-1	no_errors	ENST00000574306	ensembl	human	known	70_37	rna	SNP	0.000	T
ELMO3	79767	genome.wustl.edu	37	16	67236241	67236241	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67236241G>A	ENST00000360833.1	+	12	1426				ELMO3_ENST00000393997.2_Intron|ELMO3_ENST00000477898.1_Intron|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3						apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CGGAAGGGCAGAGAGGGCCAG	0.652																																																	0													69.0	73.0	71.0					16																	67236241		1568	3582	5150	SO:0001627	intron_variant	442901				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1369+54G>A	16.37:g.67236241G>A			B4DV86|Q9H8A5	RNA	SNP	-	NULL	ENST00000360833.1	37	NULL		16																																																																																			MIR328	-	-		0.652	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	MIR328	HGNC	protein_coding	OTTHUMT00000257667.2	G	NM_024712		67236241	-1	no_errors	ENST00000385213	ensembl	human	known	70_37	rna	SNP	1.000	A
MIR518F	574472	genome.wustl.edu	37	19	54206023	54206023	+	RNA	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:54206023C>G	ENST00000384973.1	+	0	87				MIR518B_ENST00000385127.1_RNA|MIR520B_ENST00000384989.1_RNA	NR_030194.1				microRNA 518f																		GAAGCGCTTTCTGTTGTCTGA	0.438																																																	0													76.0	71.0	72.0					19																	54206023		1568	3582	5150			574474					19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54206023C>G				RNA	SNP	-	NULL	ENST00000384973.1	37	NULL		19																																																																																			MIR518B	-	-		0.438	MIR518F-201	KNOWN	basic	miRNA	MIR518B	HGNC	miRNA		C	NR_030194		54206023	+1	no_errors	ENST00000385127	ensembl	human	known	70_37	rna	SNP	0.039	G
MIR596	693181	genome.wustl.edu	37	8	1765426	1765426	+	RNA	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:1765426C>T	ENST00000385091.1	+	0	30					NR_030326.1				microRNA 596																		CTGCCCGGCTCCTCGGGAACC	0.622																																																	0													47.0	50.0	49.0					8																	1765426		1568	3582	5150			693181					8p23.3	2011-09-12		2008-12-18	ENSG00000207826	ENSG00000207826		"""ncRNAs / Micro RNAs"""	32852	non-coding RNA	RNA, micro				MIRN596			Standard	NR_030326		Approved	hsa-mir-596	uc022aqo.1				8.37:g.1765426C>T				RNA	SNP	-	NULL	ENST00000385091.1	37	NULL		8																																																																																			MIR596	-	-		0.622	MIR596-201	KNOWN	basic	miRNA	MIR596	HGNC	miRNA		C	NR_030326		1765426	+1	no_errors	ENST00000385091	ensembl	human	known	70_37	rna	SNP	0.001	T
ANKRD30BL	554226	genome.wustl.edu	37	2	133014580	133014580	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:133014580C>T	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						AACACGGCCACGGGATCCCAC	0.721																																																	0													22.0	38.0	33.0					2																	133014580		1548	3574	5122	SO:0001627	intron_variant	100313824					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+521G>A	2.37:g.133014580C>T			B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			MIR663B	-	-		0.721	ANKRD30BL-002	KNOWN	basic	processed_transcript	MIR663B	HGNC	protein_coding	OTTHUMT00000331354.1	C	NR_027019		133014580	-1	no_errors	ENST00000408361	ensembl	human	known	70_37	rna	SNP	0.012	T
MKNK1	8569	genome.wustl.edu	37	1	47059806	47059806	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:47059806G>C	ENST00000371946.4	-	2	176	c.13C>G	c.(13-15)Caa>Gaa	p.Q5E	MKNK1_ENST00000465783.1_Missense_Mutation_p.Q5E|MKNK1_ENST00000428112.2_Missense_Mutation_p.Q5E|MKNK1_ENST00000371945.4_Missense_Mutation_p.Q5E|MKNK1_ENST00000341183.5_Missense_Mutation_p.Q5E|MKNK1_ENST00000525888.1_5'UTR|MKNK1_ENST00000545730.1_Missense_Mutation_p.Q5E	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	5					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q5E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCCAACTTTTGAGAAGATACC	0.378																																																	1	Substitution - Missense(1)	cervix(1)											98.0	102.0	101.0					1																	47059806		2203	4300	6503	SO:0001583	missense	8569			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.13C>G	1.37:g.47059806G>C	ENSP00000361014:p.Gln5Glu		D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	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.Q5E	ENST00000371946.4	37	c.13	CCDS538.1	1	.	.	.	.	.	.	.	.	.	.	G	3.553	-0.091268	0.07053	.	.	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000341183;ENST00000428112;ENST00000496619;ENST00000545730;ENST00000529170;ENST00000531769;ENST00000465783;ENST00000532110	T;T;T;T;T;T;T;T;T;T	0.70399	-0.02;-0.42;-0.48;-0.48;-0.14;0.0;1.59;1.59;1.53;1.53	3.79	-0.202	0.13208	.	3.563040	0.00508	N	0.000163	T	0.44371	0.1290	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18461	0.028;0.006;0.006;0.015	B;B;B;B	0.16722	0.016;0.015;0.015;0.011	T	0.45877	-0.9231	10	0.02654	T	1	.	3.0008	0.06012	0.3251:0.0:0.4812:0.1937	.	5;5;5;5	B4E1V9;Q9BUB5-3;Q9BUB5-2;Q9BUB5	.;.;.;MKNK1_HUMAN	E	5;5;5;5;5;5;5;5;5;75	ENSP00000361014:Q5E;ENSP00000361013:Q5E;ENSP00000339573:Q5E;ENSP00000411135:Q5E;ENSP00000436709:Q5E;ENSP00000440974:Q5E;ENSP00000435163:Q5E;ENSP00000434021:Q5E;ENSP00000434834:Q5E;ENSP00000431985:Q75E	ENSP00000339573:Q5E	Q	-	1	0	MKNK1	46832393	0.018000	0.18449	0.000000	0.03702	0.000000	0.00434	0.062000	0.14389	-0.023000	0.13963	-1.164000	0.01763	CAA	MKNK1	-	NULL		0.378	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	HGNC	protein_coding	OTTHUMT00000021897.2	G	NM_003684		47059806	-1	no_errors	ENST00000371946	ensembl	human	known	70_37	missense	SNP	0.000	C
MKRN3	7681	genome.wustl.edu	37	15	23811531	23811531	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:23811531C>T	ENST00000314520.3	+	1	1078	c.602C>T	c.(601-603)gCg>gTg	p.A201V	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	201					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A201V(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAAAGCTGGGCGGATGCCATT	0.592																																																	1	Substitution - Missense(1)	cervix(1)											38.0	44.0	42.0					15																	23811531		2202	4300	6502	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.602C>T	15.37:g.23811531C>T	ENSP00000313881:p.Ala201Val			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.A201V	ENST00000314520.3	37	c.602	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	C	0.124	-1.121749	0.01785	.	.	ENSG00000179455	ENST00000314520	T	0.27557	1.66	4.07	-6.96	0.01622	.	0.299532	0.29707	N	0.011402	T	0.06416	0.0165	N	0.02539	-0.55	0.24997	N	0.991498	B	0.14438	0.01	B	0.06405	0.002	T	0.28522	-1.0041	10	0.07482	T	0.82	.	4.1067	0.10040	0.1667:0.5204:0.0891:0.2239	.	201	Q13064	MKRN3_HUMAN	V	201	ENSP00000313881:A201V	ENSP00000313881:A201V	A	+	2	0	MKRN3	21362624	0.877000	0.30153	0.002000	0.10522	0.273000	0.26683	0.487000	0.22356	-1.444000	0.01950	-1.475000	0.01000	GCG	MKRN3	-	NULL		0.592	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	C	NM_005664		23811531	+1	no_errors	ENST00000314520	ensembl	human	known	70_37	missense	SNP	0.053	T
KMT2D	8085	genome.wustl.edu	37	12	49425638	49425638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:49425638G>A	ENST00000301067.7	-	39	12849	c.12850C>T	c.(12850-12852)Cag>Tag	p.Q4284*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4284	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q4284*(1)|p.Q4014*(1)									GGTGGGCCCTGAGGTCGAGGC	0.677																																																	2	Substitution - Nonsense(2)	cervix(2)											38.0	42.0	41.0					12																	49425638		1909	4101	6010	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12850C>T	12.37:g.49425638G>A	ENSP00000301067:p.Gln4284*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q4284*	ENST00000301067.7	37	c.12850	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	53	20.686397	0.99933	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.27	4.27	0.50696	.	0.000000	0.34555	N	0.003867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.6692	0.85261	0.0:0.0:1.0:0.0	.	.	.	.	X	4284	.	ENSP00000301067:Q4284X	Q	-	1	0	MLL2	47711905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.005000	0.49521	2.678000	0.91216	0.655000	0.94253	CAG	MLL2	-	NULL		0.677	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49425638	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151859593	151859593	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:151859593G>C	ENST00000262189.6	-	43	11287	c.11069C>G	c.(11068-11070)tCa>tGa	p.S3690*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S3690*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3690					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S3690*(2)									AGTTGCTTGTGAGAAATCACT	0.463																																																	2	Substitution - Nonsense(2)	cervix(2)											221.0	222.0	222.0					7																	151859593		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11069C>G	7.37:g.151859593G>C	ENSP00000262189:p.Ser3690*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S3690*	ENST00000262189.6	37	c.11069	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	52	19.814963	0.99924	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	.	.	.	5.51	3.69	0.42338	.	0.805758	0.10081	U	0.718462	.	.	.	.	.	.	0.19300	N	0.999975	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.4648	0.21975	0.1514:0.0:0.7029:0.1457	.	.	.	.	X	3690;3690;276	.	ENSP00000262189:S3690X	S	-	2	0	MLL3	151490526	0.003000	0.15002	0.000000	0.03702	0.020000	0.10135	1.539000	0.36104	0.679000	0.31345	0.650000	0.86243	TCA	MLL3	-	NULL		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151859593	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	0.002	C
KMT2C	58508	genome.wustl.edu	37	7	151860641	151860641	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:151860641G>T	ENST00000262189.6	-	43	10239	c.10021C>A	c.(10021-10023)Cct>Act	p.P3341T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P3341T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3341	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P3341T(2)									AGGTGGGCAGGAGCACTGTTG	0.517																																																	2	Substitution - Missense(2)	cervix(2)											104.0	99.0	101.0					7																	151860641		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10021C>A	7.37:g.151860641G>T	ENSP00000262189:p.Pro3341Thr		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P3341T	ENST00000262189.6	37	c.10021	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.253|0.253	-1.004954|-1.004954	0.02112|0.02112	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.86432|.	-2.12;-2.08|.	5.09|5.09	1.2|1.2	0.21068|0.21068	.|.	0.485497|.	0.17138|.	N|.	0.185552|.	T|T	0.51822|0.51822	0.1697|0.1697	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B;B;B|.	0.19200|.	0.012;0.034;0.031|.	B;B;B|.	0.21708|.	0.003;0.036;0.028|.	T|T	0.33675|0.33675	-0.9859|-0.9859	10|5	0.29301|.	T|.	0.29|.	.|.	7.6758|7.6758	0.28484|0.28484	0.2588:0.1361:0.6051:0.0|0.2588:0.1361:0.6051:0.0	.|.	3341;2402;3341|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	T|Y	3341|846	ENSP00000262189:P3341T;ENSP00000347325:P3341T|.	ENSP00000262189:P3341T|.	P|S	-|-	1|2	0|0	MLL3|MLL3	151491574|151491574	0.781000|0.781000	0.28676|0.28676	0.669000|0.669000	0.29828|0.29828	0.028000|0.028000	0.11728|0.11728	0.056000|0.056000	0.14256|0.14256	-0.063000|-0.063000	0.13065|0.13065	-0.782000|-0.782000	0.03352|0.03352	CCT|TCC	MLL3	-	NULL		0.517	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151860641	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.993	T
KMT2C	58508	genome.wustl.edu	37	7	151919142	151919142	+	Nonsense_Mutation	SNP	G	G	C	rs201254064		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:151919142G>C	ENST00000262189.6	-	22	3661	c.3443C>G	c.(3442-3444)tCa>tGa	p.S1148*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1148*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1148					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S1148*(2)									ACAGCAGTCTGAGGAAGGCAC	0.279																																																	2	Substitution - Nonsense(2)	cervix(2)											54.0	60.0	58.0					7																	151919142		2198	4294	6492	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3443C>G	7.37:g.151919142G>C	ENSP00000262189:p.Ser1148*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S1148*	ENST00000262189.6	37	c.3443	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.570198	0.99577	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.58	5.58	0.84498	.	0.202603	0.24542	N	0.037639	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	9.7952	0.40731	0.1578:0.0:0.8422:0.0	.	.	.	.	X	1148	.	ENSP00000262189:S1148X	S	-	2	0	MLL3	151550075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.146000	0.50631	2.622000	0.88805	0.650000	0.86243	TCA	MLL3	-	NULL		0.279	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151919142	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	C
MLLT10	8028	genome.wustl.edu	37	10	22021945	22021945	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:22021945C>T	ENST00000307729.7	+	18	2514	c.2336C>T	c.(2335-2337)tCa>tTa	p.S779L	MLLT10_ENST00000446906.2_Missense_Mutation_p.S779L|MLLT10_ENST00000377072.3_Missense_Mutation_p.S795L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S779L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	779	Transactivation domain; required for DOT1L-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S779L(1)|p.S795L(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GCACAGCTTTCAGTGCCTTTT	0.358			T	"""MLL, PICALM, CDK6"""	AL																																			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	2	Substitution - Missense(2)	cervix(2)											104.0	100.0	101.0					10																	22021945		2203	4300	6503	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2336C>T	10.37:g.22021945C>T	ENSP00000307411:p.Ser779Leu		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S779L	ENST00000307729.7	37	c.2336	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.556362	0.96514	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.36303	0.0962	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.67145	0.996;0.993;0.993;0.993	D;D;P;D	0.77557	0.99;0.977;0.823;0.977	T	0.01420	-1.1359	10	0.87932	D	0	.	20.5182	0.99214	0.0:1.0:0.0:0.0	.	474;779;779;795	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	L	795;779;779;614;779	ENSP00000366272:S795L;ENSP00000401406:S779L;ENSP00000307411:S779L;ENSP00000366258:S779L	ENSP00000307411:S779L	S	+	2	0	MLLT10	22061951	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.661000	0.68025	2.860000	0.98153	0.655000	0.94253	TCA	MLLT10	-	NULL		0.358	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	C			22021945	+1	no_errors	ENST00000307729	ensembl	human	known	70_37	missense	SNP	1.000	T
MLLT3	4300	genome.wustl.edu	37	9	20414065	20414065	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:20414065G>C	ENST00000380338.4	-	5	1065	c.779C>G	c.(778-780)tCa>tGa	p.S260*	MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000429426.2_Nonsense_Mutation_p.S257*|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	260					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S260*(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGCTCTTTTGACATGGGTTT	0.398			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	1	Substitution - Nonsense(1)	cervix(1)											300.0	303.0	302.0					9																	20414065		2203	4300	6503	SO:0001587	stop_gained	4300			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.779C>G	9.37:g.20414065G>C	ENSP00000369695:p.Ser260*		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Nonsense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S260*	ENST00000380338.4	37	c.779	CCDS6494.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.693469	0.96793	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.79	5.79	0.91817	.	0.062472	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-7.6124	20.004	0.97428	0.0:0.0:1.0:0.0	.	.	.	.	X	260;257;299	.	ENSP00000369695:S260X	S	-	2	0	MLLT3	20404065	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.364000	0.73086	2.728000	0.93425	0.655000	0.94253	TCA	MLLT3	-	NULL		0.398	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	G	NM_004529		20414065	-1	no_errors	ENST00000380338	ensembl	human	known	70_37	nonsense	SNP	1.000	C
MLPH	79083	genome.wustl.edu	37	2	238419644	238419644	+	Silent	SNP	C	C	T	rs368834843	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:238419644C>T	ENST00000264605.3	+	4	639	c.345C>T	c.(343-345)atC>atT	p.I115I	MLPH_ENST00000338530.4_Silent_p.I115I|MLPH_ENST00000409373.1_Silent_p.I115I|MLPH_ENST00000410032.1_Silent_p.I115I|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.I115I	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	115	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.I115I(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TCGTGAAGATCGGCTCACTGG	0.572													C|||	3	0.000599042	0.0	0.0	5008	,	,		19158	0.0		0.0	False		,,,				2504	0.0031																1	Substitution - coding silent(1)	cervix(1)						C	,	0,4406		0,0,2203	215.0	212.0	213.0		345,345	-9.5	0.0	2		213	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MLPH	NM_001042467.1,NM_024101.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	115/573,115/601	238419644	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.345C>T	2.37:g.238419644C>T			B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.I115	ENST00000264605.3	37	c.345	CCDS2518.1	2																																																																																			MLPH	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.572	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	C	NM_024101		238419644	+1	no_errors	ENST00000264605	ensembl	human	known	70_37	silent	SNP	0.002	T
MMAB	326625	genome.wustl.edu	37	12	110006640	110006640	+	Missense_Mutation	SNP	C	C	G	rs267603297		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:110006640C>G	ENST00000545712.2	-	3	618	c.225G>C	c.(223-225)agG>agC	p.R75S	MMAB_ENST00000540016.1_Intron|RNU4-32P_ENST00000363404.1_RNA|MMAB_ENST00000266839.5_5'UTR	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	75					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)	p.R75S(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTTGGGTCTCCTTTCTCCTG	0.398																																																	1	Substitution - Missense(1)	cervix(1)											132.0	123.0	126.0					12																	110006640		2203	4300	6503	SO:0001583	missense	326625			AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.225G>C	12.37:g.110006640C>G	ENSP00000445920:p.Arg75Ser		C5HU05|Q9BSH0	Missense_Mutation	SNP	pfam_AdoCbl_synth_CblAdoTrfase,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_syn_CblAdoTrfase_PduO_N	p.R75S	ENST00000545712.2	37	c.225	CCDS9131.1	12	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653968	0.67472	.	.	ENSG00000139428	ENST00000545712;ENST00000542390	D	0.96136	-3.92	4.91	1.76	0.24704	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.000000	0.85682	D	0.000000	D	0.96679	0.8916	H	0.95645	3.7	0.80722	D	1	P	0.43287	0.802	P	0.46253	0.509	D	0.95271	0.8377	10	0.87932	D	0	-34.9715	9.3377	0.38060	0.0:0.74:0.0:0.26	.	75	Q96EY8	MMAB_HUMAN	S	75	ENSP00000445920:R75S	ENSP00000444793:R75S	R	-	3	2	MMAB	108491023	0.928000	0.31464	1.000000	0.80357	0.995000	0.86356	0.032000	0.13732	0.257000	0.21650	0.555000	0.69702	AGG	MMAB	-	pfam_AdoCbl_synth_CblAdoTrfase,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_syn_CblAdoTrfase_PduO_N		0.398	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAB	HGNC	protein_coding	OTTHUMT00000403128.2	C			110006640	-1	no_errors	ENST00000545712	ensembl	human	known	70_37	missense	SNP	1.000	G
MMEL1	79258	genome.wustl.edu	37	1	2524328	2524328	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:2524328C>T	ENST00000378412.3	-	20	2106	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	MMEL1_ENST00000288709.6_Missense_Mutation_p.E640K|MMEL1_ENST00000502556.1_Missense_Mutation_p.E492K			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	649						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E640K(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ATCATGCACTCTGACTGCTCC	0.607																																																	1	Substitution - Missense(1)	cervix(1)											133.0	105.0	114.0					1																	2524328		2202	4300	6502	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1945G>A	1.37:g.2524328C>T	ENSP00000367668:p.Glu649Lys		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E649K	ENST00000378412.3	37	c.1945	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	C	6.116	0.389726	0.11581	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.81739	-1.53;-1.53;-1.53	4.76	-1.21	0.09524	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.639093	0.16427	N	0.214902	T	0.53594	0.1806	N	0.00972	-1.085	0.09310	N	0.999991	B	0.19331	0.035	B	0.24006	0.05	T	0.49588	-0.8924	10	0.40728	T	0.16	-26.453	13.9681	0.64221	0.0:0.217:0.7033:0.0797	.	649	Q495T6	MMEL1_HUMAN	K	492;640;649;492	ENSP00000288709:E640K;ENSP00000367668:E649K;ENSP00000422492:E492K	ENSP00000288709:E640K	E	-	1	0	MMEL1	2514188	0.520000	0.26250	0.052000	0.19188	0.093000	0.18481	1.035000	0.30216	-0.100000	0.12241	0.655000	0.94253	GAG	MMEL1	-	pfam_Peptidase_M13_C		0.607	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	C	NM_033467		2524328	-1	no_errors	ENST00000378412	ensembl	human	known	70_37	missense	SNP	0.020	T
MMGT1	93380	genome.wustl.edu	37	X	135047196	135047196	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:135047196G>C	ENST00000305963.2	-	4	770	c.383C>G	c.(382-384)tCa>tGa	p.S128*	MMGT1_ENST00000433339.2_Nonsense_Mutation_p.S193*	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	128					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)	p.S128*(1)		cervix(1)|endometrium(1)|kidney(1)	3						ACGACGCAGTGATTCGAGTTT	0.413																																																	1	Substitution - Nonsense(1)	cervix(1)											169.0	159.0	162.0					X																	135047196		2203	4300	6503	SO:0001587	stop_gained	93380			AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"""ER membrane protein complex subunit 5"""		"""transmembrane protein 32"""	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.383C>G	X.37:g.135047196G>C	ENSP00000306220:p.Ser128*		B2R625|B4DIY3|D3DWG7|Q5JPP7	Nonsense_Mutation	SNP	pfam_Magnesium_transport	p.S193*	ENST00000305963.2	37	c.578	CCDS14653.1	X	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517577	0.85495	.	.	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.53	5.53	0.82687	.	0.413669	0.26099	N	0.026351	.	.	.	.	.	.	0.31502	N	0.664637	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	17.6169	0.88070	0.0:0.0:1.0:0.0	.	.	.	.	X	128;193	.	ENSP00000306220:S128X	S	-	2	0	MMGT1	134874862	1.000000	0.71417	0.962000	0.40283	0.960000	0.62799	6.633000	0.74286	2.463000	0.83235	0.600000	0.82982	TCA	MMGT1	-	NULL		0.413	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMGT1	HGNC	protein_coding	OTTHUMT00000058453.3	G	NM_173470		135047196	-1	no_errors	ENST00000433339	ensembl	human	known	70_37	nonsense	SNP	0.997	C
MMP16	4325	genome.wustl.edu	37	8	89068395	89068395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:89068395C>T	ENST00000286614.6	-	8	1615	c.1334G>A	c.(1333-1335)tGg>tAg	p.W445*		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	445					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W445*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GACGTCCTCCCACCAAATGGC	0.418																																																	1	Substitution - Nonsense(1)	cervix(1)											118.0	111.0	113.0					8																	89068395		2203	4300	6503	SO:0001587	stop_gained	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1334G>A	8.37:g.89068395C>T	ENSP00000286614:p.Trp445*		B2RAN7|Q14824|Q52H48	Nonsense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,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.W445*	ENST00000286614.6	37	c.1334	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	41	8.545134	0.98857	.	.	ENSG00000156103	ENST00000286614	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	445	.	ENSP00000286614:W445X	W	-	2	0	MMP16	89137511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.793000	0.96121	0.655000	0.94253	TGG	MMP16	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.418	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	C	NM_005941		89068395	-1	no_errors	ENST00000286614	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MMP26	56547	genome.wustl.edu	37	11	5013305	5013305	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:5013305G>C	ENST00000380390.1	+	6	923	c.707G>C	c.(706-708)aGa>aCa	p.R236T	MMP26_ENST00000300762.1_Missense_Mutation_p.R236T			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	236					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R236T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CACGACCCTAGAACCTTCCAG	0.488																																																	1	Substitution - Missense(1)	cervix(1)											87.0	78.0	81.0					11																	5013305		2201	4298	6499	SO:0001583	missense	56547			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.707G>C	11.37:g.5013305G>C	ENSP00000369753:p.Arg236Thr		Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	p.R236T	ENST00000380390.1	37	c.707	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.386560	0.01194	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.20598	2.06;2.06	3.79	-2.49	0.06403	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.163330	0.06492	N	0.734756	T	0.12263	0.0298	L	0.28192	0.835	0.09310	N	1	B	0.12013	0.005	B	0.19391	0.025	T	0.37526	-0.9702	10	0.19590	T	0.45	0.5031	4.6435	0.12561	0.6192:0.0:0.2051:0.1756	.	236	Q9NRE1	MMP26_HUMAN	T	236	ENSP00000369753:R236T;ENSP00000300762:R236T	ENSP00000300762:R236T	R	+	2	0	MMP26	4969881	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	0.814000	0.27239	-0.366000	0.08064	0.561000	0.74099	AGA	MMP26	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	G	NM_021801		5013305	+1	no_errors	ENST00000300762	ensembl	human	known	70_37	missense	SNP	0.000	C
MN1	4330	genome.wustl.edu	37	22	28146769	28146770	+	3'UTR	INS	-	-	GA	rs28501997|rs377485634	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:28146769_28146770insGA	ENST00000302326.4	-	0	5050_5051				MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1						intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCAACCTAGAGAAAAAAAAAAA	0.441			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0																																										SO:0001624	3_prime_UTR_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.*134->TC	22.37:g.28146769_28146770insGA			A9Z1V9	RNA	INS	-	NULL	ENST00000302326.4	37	NULL	CCDS42998.1	22																																																																																			MN1	-	-		0.441	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	-	NM_002430		28146770	-1	no_errors	ENST00000497225	ensembl	human	putative	70_37	rna	INS	0.964:0.985	GA
MON1A	84315	genome.wustl.edu	37	3	49946585	49946585	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49946585C>T	ENST00000417270.1	-	7	2247	c.1554G>A	c.(1552-1554)gtG>gtA	p.V518V	MON1A_ENST00000455683.2_Silent_p.V445V|MON1A_ENST00000296473.3_Silent_p.V607V|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000483022.1_5'Flank			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	510								p.V510V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGGCGCCTGTCACCTGGAGAA	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											42.0	40.0	41.0					3																	49946585		2203	4300	6503	SO:0001819	synonymous_variant	84315			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1554G>A	3.37:g.49946585C>T			B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Silent	SNP	pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1	p.V607	ENST00000417270.1	37	c.1821		3																																																																																			MON1A	-	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1		0.592	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	MON1A	HGNC	protein_coding	OTTHUMT00000345538.2	C	NM_032355		49946585	-1	no_errors	ENST00000296473	ensembl	human	known	70_37	silent	SNP	1.000	T
MOV10	4343	genome.wustl.edu	37	1	113238053	113238053	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:113238053C>G	ENST00000413052.2	+	11	2026	c.1636C>G	c.(1636-1638)Ccc>Gcc	p.P546A	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.P546A|MOV10_ENST00000357443.2_Missense_Mutation_p.P546A|MOV10_ENST00000369644.1_Missense_Mutation_p.P490A|RP11-426L16.3_ENST00000421943.1_RNA	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	546					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.P546A(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAAGCACTTGCCCAAAGCCCA	0.592																																																	1	Substitution - Missense(1)	cervix(1)											108.0	91.0	97.0					1																	113238053		2203	4300	6503	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1636C>G	1.37:g.113238053C>G	ENSP00000399797:p.Pro546Ala		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.P546A	ENST00000413052.2	37	c.1636	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459299	0.63401	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.35	5.35	0.76521	.	0.563621	0.19347	N	0.116520	D	0.82651	0.5083	L	0.47016	1.485	0.80722	D	1	P;P	0.38048	0.616;0.616	B;P	0.49953	0.444;0.627	D	0.83543	0.0097	10	0.52906	T	0.07	-17.7143	17.8634	0.88789	0.0:1.0:0.0:0.0	.	490;546	Q5JR04;Q9HCE1	.;MOV10_HUMAN	A	546;546;490;546;484	ENSP00000399797:P546A;ENSP00000358659:P546A;ENSP00000358658:P490A;ENSP00000350028:P546A	ENSP00000350028:P546A	P	+	1	0	MOV10	113039576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.945000	0.49043	2.503000	0.84419	0.655000	0.94253	CCC	MOV10	-	NULL		0.592	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	C	NM_020963		113238053	+1	no_errors	ENST00000357443	ensembl	human	known	70_37	missense	SNP	1.000	G
MPP5	64398	genome.wustl.edu	37	14	67799667	67799667	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:67799667G>A	ENST00000261681.4	+	15	2683	c.2022G>A	c.(2020-2022)ctG>ctA	p.L674L	MPP5_ENST00000555925.1_Silent_p.L640L|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	674					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.L674L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CCACTTGGCTGAGGTGAAAGA	0.438																																																	1	Substitution - coding silent(1)	cervix(1)											67.0	61.0	63.0					14																	67799667		2203	4300	6503	SO:0001819	synonymous_variant	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.2022G>A	14.37:g.67799667G>A			A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.L674	ENST00000261681.4	37	c.2022	CCDS9779.1	14																																																																																			MPP5	-	NULL		0.438	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67799667	+1	no_errors	ENST00000261681	ensembl	human	known	70_37	silent	SNP	1.000	A
MRPL18	29074	genome.wustl.edu	37	6	160219111	160219111	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:160219111G>A	ENST00000367034.4	+	4	621	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	PNLDC1_ENST00000392167.3_5'Flank|MRPL18_ENST00000480842.1_3'UTR|PNLDC1_ENST00000610273.1_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	167					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)	p.E167K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		TGCCATGACAGAAGGTGGTGT	0.378																																																	1	Substitution - Missense(1)	cervix(1)											80.0	86.0	84.0					6																	160219111		2203	4300	6503	SO:0001583	missense	29074			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.499G>A	6.37:g.160219111G>A	ENSP00000356001:p.Glu167Lys		Q5TAP9|Q9NZW8	Missense_Mutation	SNP	pfam_Ribosomal_L18/L5	p.E167K	ENST00000367034.4	37	c.499	CCDS5270.1	6	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384096	0.82792	.	.	ENSG00000112110	ENST00000367034	T	0.57752	0.38	5.26	5.26	0.73747	.	0.050906	0.85682	D	0.000000	T	0.68348	0.2991	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68973	-0.5268	10	0.56958	D	0.05	-15.5497	19.0748	0.93156	0.0:0.0:1.0:0.0	.	167	Q9H0U6	RM18_HUMAN	K	167	ENSP00000356001:E167K	ENSP00000356001:E167K	E	+	1	0	MRPL18	160139101	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.176000	0.71955	2.733000	0.93635	0.655000	0.94253	GAA	MRPL18	-	NULL		0.378	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL18	HGNC	protein_coding	OTTHUMT00000042925.1	G			160219111	+1	no_errors	ENST00000367034	ensembl	human	known	70_37	missense	SNP	1.000	A
MRPL35	51318	genome.wustl.edu	37	2	86426645	86426645	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:86426645G>A	ENST00000337109.4	+	1	66	c.32G>A	c.(31-33)aGa>aAa	p.R11K	MRPL35_ENST00000254644.8_Missense_Mutation_p.R11K|MRPL35_ENST00000605125.1_Missense_Mutation_p.R11K|MRPL35_ENST00000409180.1_Missense_Mutation_p.R11K	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	11					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.R11K(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGTGCAGTGAGAGCAGCTTCA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											71.0	66.0	68.0					2																	86426645		2203	4300	6503	SO:0001583	missense	51318			AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"""Mitochondrial ribosomal proteins / large subunits"""	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.32G>A	2.37:g.86426645G>A	ENSP00000338389:p.Arg11Lys		A6NKV6|B2RB93|Q658U7|Q8WWA2	Missense_Mutation	SNP	pfam_Ribosomal_L35	p.R11K	ENST00000337109.4	37	c.32	CCDS1988.1	2	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866701	0.32977	.	.	ENSG00000132313	ENST00000254644;ENST00000337109;ENST00000409180	T;T;T	0.15372	2.44;2.69;2.43	4.03	2.25	0.28309	.	0.735372	0.13395	N	0.391097	T	0.13157	0.0319	L	0.39245	1.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21280	-1.0250	10	0.41790	T	0.15	-11.4477	6.5052	0.22192	0.218:0.0:0.782:0.0	.	11	Q9NZE8	RM35_HUMAN	K	11	ENSP00000254644:R11K;ENSP00000338389:R11K;ENSP00000386255:R11K	ENSP00000254644:R11K	R	+	2	0	MRPL35	86280156	0.031000	0.19500	0.060000	0.19600	0.015000	0.08874	0.639000	0.24690	0.678000	0.31325	-0.137000	0.14449	AGA	MRPL35	-	NULL		0.532	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL35	HGNC	protein_coding	OTTHUMT00000091002.2	G	NM_016622		86426645	+1	no_errors	ENST00000337109	ensembl	human	known	70_37	missense	SNP	0.066	A
MRRFP1	286423	genome.wustl.edu	37	X	122251339	122251339	+	IGR	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:122251339C>G								U3 (276842 upstream) : GRIA3 (66666 downstream)																							GACTTCATTTCTTCATTCACC	0.423																																																	0																																										SO:0001628	intergenic_variant	286423																															X.37:g.122251339C>G				Missense_Mutation	SNP	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	p.E91Q		37	c.271		X	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538545	0.45176	.	.	ENSG00000224236	ENST00000435941	.	.	.	1.32	1.32	0.21799	.	0.285984	0.44097	D	0.000494	T	0.58850	0.2151	.	.	.	0.43417	D	0.995567	.	.	.	.	.	.	T	0.56444	-0.7978	6	0.44086	T	0.13	-9.8851	8.1679	0.31237	0.0:1.0:0.0:0.0	.	.	.	.	Q	91	.	ENSP00000387841:E91Q	E	-	1	0	MRRFP1	122079020	0.988000	0.35896	0.997000	0.53966	0.860000	0.49131	3.834000	0.55798	0.708000	0.31955	0.350000	0.21858	GAA	MRRFP1	-	superfamily_Ribosome_recyc_fac_dom	0	0.423					MRRFP1	HGNC			C			122251339	-1	no_errors	ENST00000435941	ensembl	human	known	70_37	missense	SNP	1.000	G
MRRFP1	286423	genome.wustl.edu	37	X	122251467	122251467	+	IGR	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:122251467G>C								U3 (276970 upstream) : GRIA3 (66538 downstream)																							TGGTACAGCTGAATAGGCCAC	0.438																																																	0																																										SO:0001628	intergenic_variant	286423																															X.37:g.122251467G>C				Nonsense_Mutation	SNP	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	p.S48*		37	c.143		X	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154821	0.38021	.	.	ENSG00000224236	ENST00000435941	.	.	.	1.18	0.117	0.14652	.	0.624373	0.18553	N	0.137852	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	3.3051	4.4275	0.11511	0.0:0.0:0.6196:0.3804	.	.	.	.	X	48	.	ENSP00000387841:S48X	S	-	2	0	MRRFP1	122079148	0.008000	0.16893	0.030000	0.17652	0.249000	0.25844	0.196000	0.17176	-0.212000	0.10109	0.110000	0.15639	TCA	MRRFP1	-	NULL	0	0.438					MRRFP1	HGNC			G			122251467	-1	no_errors	ENST00000435941	ensembl	human	known	70_37	nonsense	SNP	0.018	C
MRVI1	10335	genome.wustl.edu	37	11	10653569	10653569	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:10653569C>G	ENST00000436272.1	-	3	420	c.342G>C	c.(340-342)ttG>ttC	p.L114F	MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.L114F|MRVI1_ENST00000531107.1_Missense_Mutation_p.L114F|MRVI1_ENST00000423302.2_Missense_Mutation_p.L123F|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000552103.1_Missense_Mutation_p.L32F|MRVI1_ENST00000527509.2_Missense_Mutation_p.L32F|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.L123F|MRVI1_ENST00000547195.1_Missense_Mutation_p.L32F			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	114					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.L114F(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGACACCTTCAAGTGTCGGT	0.483																																																	1	Substitution - Missense(1)	cervix(1)											86.0	89.0	88.0					11																	10653569		2061	4195	6256	SO:0001583	missense	10335			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.342G>C	11.37:g.10653569C>G	ENSP00000412229:p.Leu114Phe		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.L114F	ENST00000436272.1	37	c.342		11	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925238	0.34002	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T	0.15256	3.04;3.04;2.45;2.45;2.87;2.44;3.04;2.45	4.72	3.81	0.43845	.	0.345782	0.20662	N	0.088017	T	0.14227	0.0344	L	0.27053	0.805	0.80722	D	1	P;P;P;P	0.49090	0.904;0.868;0.868;0.919	P;B;B;B	0.47573	0.55;0.23;0.23;0.406	T	0.03394	-1.1041	10	0.48119	T	0.1	-6.1236	5.9033	0.18978	0.1884:0.7153:0.0:0.0963	.	123;114;114;114	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	F	114;115;114;32;32;123;123;114;32	ENSP00000414598:L114F;ENSP00000412229:L114F;ENSP00000448278:L32F;ENSP00000446764:L32F;ENSP00000412130:L123F;ENSP00000437784:L123F;ENSP00000432436:L114F;ENSP00000432067:L32F	ENSP00000307885:L115F	L	-	3	2	MRVI1	10610145	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	1.072000	0.30678	1.212000	0.43366	-0.258000	0.10820	TTG	MRVI1	-	NULL		0.483	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		C	NM_001098579		10653569	-1	no_errors	ENST00000421747	ensembl	human	known	70_37	missense	SNP	1.000	G
MSH2	4436	genome.wustl.edu	37	2	47705646	47705646	+	Nonsense_Mutation	SNP	C	C	T	rs63749917		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:47705646C>T	ENST00000233146.2	+	14	2669	c.2446C>T	c.(2446-2448)Cag>Tag	p.Q816*	MSH2_ENST00000406134.1_Nonsense_Mutation_p.Q816*|MSH2_ENST00000543555.1_Nonsense_Mutation_p.Q750*	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	816					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.Q816*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATGCTTTATCAGGTGAAGAA	0.373			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	5	Whole gene deletion(2)|Unknown(2)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(3)|cervix(1)|prostate(1)	GRCh37	CM052255	MSH2	M	rs63749917						122.0	117.0	119.0					2																	47705646		2203	4300	6503	SO:0001587	stop_gained	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2446C>T	2.37:g.47705646C>T	ENSP00000233146:p.Gln816*		B4E2Z2|O75488	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2	p.Q816*	ENST00000233146.2	37	c.2446	CCDS1834.1	2	.	.	.	.	.	.	.	.	.	.	C	38	7.266464	0.98175	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000413880	.	.	.	5.3	5.3	0.74995	.	0.248354	0.37136	N	0.002233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8457	17.1484	0.86772	0.0:1.0:0.0:0.0	rs63749917	.	.	.	X	816;750;816;602	.	ENSP00000233146:Q816X	Q	+	1	0	MSH2	47559150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.274000	0.51631	2.488000	0.83962	0.643000	0.83706	CAG	MSH2	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2		0.373	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	HGNC	protein_coding	OTTHUMT00000250805.3	C			47705646	+1	no_errors	ENST00000233146	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MSH6	2956	genome.wustl.edu	37	2	48026985	48026985	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:48026985G>C	ENST00000234420.5	+	4	2015	c.1863G>C	c.(1861-1863)ctG>ctC	p.L621L	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.L491L|MSH6_ENST00000538136.1_Silent_p.L319L	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	621					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.L621L(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGAAGGTCTGATACCCGGCT	0.398			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	3	Whole gene deletion(2)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(2)|cervix(1)											61.0	65.0	64.0					2																	48026985		2203	4300	6503	SO:0001819	synonymous_variant	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1863G>C	2.37:g.48026985G>C			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.L621	ENST00000234420.5	37	c.1863	CCDS1836.1	2																																																																																			MSH6	-	pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt,pirsf_DNA_mismatch_repair_Msh6		0.398	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	G	NM_000179		48026985	+1	no_errors	ENST00000234420	ensembl	human	known	70_37	silent	SNP	0.011	C
MSL3	10943	genome.wustl.edu	37	X	11790741	11790741	+	Splice_Site	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:11790741G>T	ENST00000312196.4	+	12	1488	c.1383G>T	c.(1381-1383)gtG>gtT	p.V461V	MSL3_ENST00000361672.2_Splice_Site_p.V312V|MSL3_ENST00000398527.2_Splice_Site_p.V449V|MSL3_ENST00000380693.3_Splice_Site_p.V295V	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	461	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V461V(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTAATGCAGTGAAACTTCCAG	0.368																																																	1	Substitution - coding silent(1)	cervix(1)											76.0	68.0	71.0					X																	11790741		2203	4300	6503	SO:0001630	splice_region_variant	10943			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1382-1G>T	X.37:g.11790741G>T			A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Silent	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.V461	ENST00000312196.4	37	c.1383	CCDS14147.1	X																																																																																			MSL3	-	pfam_MRG_dom		0.368	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL3	HGNC	protein_coding	OTTHUMT00000055757.1	G	NM_006800	Silent	11790741	+1	no_errors	ENST00000312196	ensembl	human	known	70_37	silent	SNP	0.987	T
MTFR1	9650	genome.wustl.edu	37	8	66619257	66619257	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:66619257C>G	ENST00000262146.4	+	6	656	c.530C>G	c.(529-531)tCt>tGt	p.S177C	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.S144C	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	177					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.S177C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GACTTAGATTCTACCACATTT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											88.0	91.0	90.0					8																	66619257		2200	4300	6500	SO:0001583	missense	9650				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.530C>G	8.37:g.66619257C>G	ENSP00000262146:p.Ser177Cys		E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	pfam_Mtfr1	p.S177C	ENST00000262146.4	37	c.530	CCDS6182.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.595361|3.595361	0.66219|0.66219	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000518609;ENST00000262146;ENST00000458689	.|T;T	.|0.46819	.|0.86;0.86	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.726452	.|0.13931	.|N	.|0.352916	T|T	0.67961|0.67961	0.2949|0.2949	M|M	0.77103|0.77103	2.36|2.36	0.09310|0.09310	N|N	1|1	.|D;B;B;D	.|0.67145	.|0.996;0.188;0.204;0.996	.|P;B;B;D	.|0.65684	.|0.905;0.152;0.049;0.937	T|T	0.61461|0.61461	-0.7058|-0.7058	5|10	.|0.66056	.|D	.|0.02	-11.0961|-11.0961	13.0654|13.0654	0.59030|0.59030	0.1605:0.8395:0.0:0.0|0.1605:0.8395:0.0:0.0	.|.	.|177;161;144;177	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	V|C	135|161;177;144	.|ENSP00000262146:S177C;ENSP00000391502:S144C	.|ENSP00000262146:S177C	L|S	+|+	1|2	2|0	MTFR1|MTFR1	66781811|66781811	0.591000|0.591000	0.26824|0.26824	0.094000|0.094000	0.20943|0.20943	0.630000|0.630000	0.37929|0.37929	4.581000|4.581000	0.60949|0.60949	2.568000|2.568000	0.86640|0.86640	0.650000|0.650000	0.86243|0.86243	CTA|TCT	MTFR1	-	pfam_Mtfr1		0.443	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	HGNC	protein_coding	OTTHUMT00000378894.1	C	NM_014637		66619257	+1	no_errors	ENST00000262146	ensembl	human	known	70_37	missense	SNP	0.110	G
MTHFR	4524	genome.wustl.edu	37	1	11855208	11855208	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:11855208C>T	ENST00000376592.1	-	5	1106	c.978G>A	c.(976-978)gaG>gaA	p.E326E	MTHFR_ENST00000376585.1_Silent_p.E367E|MTHFR_ENST00000376583.3_Silent_p.E367E|MTHFR_ENST00000376590.3_Silent_p.E326E			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	326					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.E326E(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TGGTAGCCATCTCGCGGTTGA	0.637																																																	1	Substitution - coding silent(1)	cervix(1)											73.0	74.0	74.0					1																	11855208		2203	4300	6503	SO:0001819	synonymous_variant	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.978G>A	1.37:g.11855208C>T			B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.E367	ENST00000376592.1	37	c.1101	CCDS137.1	1																																																																																			MTHFR	-	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk		0.637	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	C	NM_005957		11855208	-1	no_errors	ENST00000376583	ensembl	human	known	70_37	silent	SNP	1.000	T
MTL5	9633	genome.wustl.edu	37	11	68512461	68512461	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:68512461G>C	ENST00000255087.5	-	4	932	c.749C>G	c.(748-750)tCa>tGa	p.S250*	MTL5_ENST00000443940.2_Nonsense_Mutation_p.S250*|MTL5_ENST00000540869.1_Intron|MTL5_ENST00000544963.1_Nonsense_Mutation_p.S250*	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	250					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.S250*(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTTTGTACCTGACTGTAGATA	0.313																																																	1	Substitution - Nonsense(1)	cervix(1)											96.0	93.0	94.0					11																	68512461		2200	4290	6490	SO:0001587	stop_gained	9633			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.749C>G	11.37:g.68512461G>C	ENSP00000255087:p.Ser250*		A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Nonsense_Mutation	SNP	pfam_CRC,superfamily_Thionin	p.S250*	ENST00000255087.5	37	c.749	CCDS8184.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.262576	0.95399	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	.	.	.	5.35	5.35	0.76521	.	0.339143	0.21691	N	0.070573	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-8.446	16.8394	0.85964	0.0:0.0:1.0:0.0	.	.	.	.	X	250	.	ENSP00000255087:S250X	S	-	2	0	MTL5	68269037	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.397000	0.66302	2.479000	0.83701	0.655000	0.94253	TCA	MTL5	-	NULL		0.313	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTL5	HGNC	protein_coding	OTTHUMT00000396844.1	G	NM_004923		68512461	-1	no_errors	ENST00000255087	ensembl	human	known	70_37	nonsense	SNP	1.000	C
MTSS1	9788	genome.wustl.edu	37	8	125565852	125565852	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:125565852C>G	ENST00000518547.1	-	14	2122	c.1649G>C	c.(1648-1650)aGa>aCa	p.R550T	MTSS1_ENST00000524090.1_Missense_Mutation_p.R440T|MTSS1_ENST00000325064.5_Missense_Mutation_p.R554T|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.R268T|MTSS1_ENST00000378017.3_Missense_Mutation_p.R525T|MTSS1_ENST00000431961.2_Missense_Mutation_p.R268T|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.R324T	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	550					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R550T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTCGCTGTTTCTTGGAATGGT	0.507																																					Esophageal Squamous(160;622 1893 3862 8546 12509)												1	Substitution - Missense(1)	cervix(1)											76.0	56.0	63.0					8																	125565852		2203	4300	6503	SO:0001583	missense	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1649G>C	8.37:g.125565852C>G	ENSP00000429064:p.Arg550Thr		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom	p.R550T	ENST00000518547.1	37	c.1649	CCDS6353.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.97|13.97	2.396133|2.396133	0.42512|0.42512	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000519168|ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090	.|T;T;T;T;T;T;T	.|0.74315	.|-0.58;-0.83;-0.31;-0.42;-0.83;-0.31;-0.63	5.89|5.89	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84955|0.84955	0.5587|0.5587	M|M	0.70595|0.70595	2.14|2.14	0.46260|0.46260	D|D	0.99895|0.99895	.|P;D;D;D;D;D;D	.|0.89917	.|0.693;1.0;1.0;0.999;1.0;0.996;0.999	.|B;D;D;D;D;D;D	.|0.85130	.|0.318;0.997;0.996;0.991;0.997;0.99;0.994	D|D	0.85678|0.85678	0.1299|0.1299	5|10	.|0.49607	.|T	.|0.09	-19.5561|-19.5561	15.2205|15.2205	0.73308|0.73308	0.0:0.9326:0.0:0.0674|0.0:0.9326:0.0:0.0674	.|.	.|440;324;525;550;525;268;199	.|E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2;Q6ZTG0	.|.;.;.;MTSS1_HUMAN;.;.;.	N|T	337|525;550;268;324;554;268;440	.|ENSP00000367256:R525T;ENSP00000429064:R550T;ENSP00000346119:R268T;ENSP00000378884:R324T;ENSP00000322804:R554T;ENSP00000393606:R268T;ENSP00000428319:R440T	.|ENSP00000322804:R554T	K|R	-|-	3|2	2|0	MTSS1|MTSS1	125635033|125635033	0.999000|0.999000	0.42202|0.42202	0.225000|0.225000	0.23894|0.23894	0.001000|0.001000	0.01503|0.01503	7.818000|7.818000	0.86416|0.86416	1.501000|1.501000	0.48654|0.48654	-0.291000|-0.291000	0.09656|0.09656	AAG|AGA	MTSS1	-	NULL		0.507	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3	C	NM_014751		125565852	-1	no_errors	ENST00000518547	ensembl	human	known	70_37	missense	SNP	0.837	G
MTTP	4547	genome.wustl.edu	37	4	100542386	100542386	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:100542386C>T	ENST00000265517.5	+	17	2714	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.F864F|MTTP_ENST00000457717.1_Silent_p.F837F			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	837					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.F837F(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AAGCTCCATTCAGGTAAGATG	0.438																																																	1	Substitution - coding silent(1)	cervix(1)											155.0	142.0	146.0					4																	100542386		2203	4300	6503	SO:0001819	synonymous_variant	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2511C>T	4.37:g.100542386C>T			A8K428|Q08AM4|Q6P5T3	Silent	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.F837	ENST00000265517.5	37	c.2511	CCDS3651.1	4																																																																																			MTTP	-	NULL		0.438	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	C			100542386	+1	no_errors	ENST00000265517	ensembl	human	known	70_37	silent	SNP	0.998	T
MUC13	56667	genome.wustl.edu	37	3	124635176	124635176	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:124635176G>C	ENST00000311075.3	-	6	987	c.949C>G	c.(949-951)Cta>Gta	p.L317V		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	318	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)	p.L317V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TCATAGTTTAGAAAGTTGCTT	0.308																																																	1	Substitution - Missense(1)	cervix(1)											93.0	89.0	90.0					3																	124635176		2202	4299	6501	SO:0001583	missense	56667			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.949C>G	3.37:g.124635176G>C	ENSP00000312235:p.Leu317Val		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	pfam_SEA,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.L317V	ENST00000311075.3	37	c.949		3	.	.	.	.	.	.	.	.	.	.	G	0.365	-0.937148	0.02340	.	.	ENSG00000173702	ENST00000311075	T	0.38240	1.15	4.56	-9.12	0.00707	SEA (2);	5.959490	0.00166	N	0.000001	T	0.23210	0.0561	L	0.34521	1.04	0.09310	N	1	B	0.26195	0.144	B	0.30251	0.113	T	0.14117	-1.0484	10	0.29301	T	0.29	8.9711	2.5471	0.04740	0.264:0.3241:0.2824:0.1295	.	317	Q9H3R2	MUC13_HUMAN	V	317	ENSP00000312235:L317V	ENSP00000312235:L317V	L	-	1	2	MUC13	126117866	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.671000	0.00032	-5.256000	0.00018	-1.098000	0.02139	CTA	MUC13	-	pfam_SEA,superfamily_Growth_fac_rcpt		0.308	MUC13-001	KNOWN	basic|appris_principal	protein_coding	MUC13	HGNC	protein_coding	OTTHUMT00000355714.1	G	NM_033049		124635176	-1	no_errors	ENST00000311075	ensembl	human	known	70_37	missense	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9014193	9014193	+	Missense_Mutation	SNP	G	G	C	rs386806628		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:9014193G>C	ENST00000397910.4	-	32	38658	c.38455C>G	c.(38455-38457)Cag>Gag	p.Q12819E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12821				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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)		p.Q12819E(1)		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						GCAGAGGTCTGATGGGTGAAA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											137.0	125.0	129.0					19																	9014193		1976	4169	6145	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.38455C>G	19.37:g.9014193G>C	ENSP00000381008:p.Gln12819Glu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Q12819E	ENST00000397910.4	37	c.38455	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	0.251	-1.006153	0.02112	.	.	ENSG00000181143	ENST00000397910	T	0.27890	1.64	1.27	-2.54	0.06307	.	.	.	.	.	T	0.21387	0.0515	L	0.46157	1.445	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.27088	-1.0084	8	0.87932	D	0	.	2.4941	0.04617	0.194:0.0:0.3171:0.4889	.	12819	B5ME49	.	E	12819	ENSP00000381008:Q12819E	ENSP00000381008:Q12819E	Q	-	1	0	MUC16	8875193	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.172000	0.03112	-0.983000	0.03511	-0.901000	0.02856	CAG	MUC16	-	NULL		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9014193	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C
MUC17	140453	genome.wustl.edu	37	7	100685909	100685909	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:100685909C>G	ENST00000306151.4	+	3	11276	c.11212C>G	c.(11212-11214)Ctt>Gtt	p.L3738V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3738	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.L3738V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCTGCAACTCTTGACAGCAC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											230.0	213.0	219.0					7																	100685909		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11212C>G	7.37:g.100685909C>G	ENSP00000302716:p.Leu3738Val		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.L3738V	ENST00000306151.4	37	c.11212	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	2.747	-0.260879	0.05791	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	1.63	-3.25	0.05079	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	P	0.47409	0.895	P	0.44477	0.451	T	0.41161	-0.9524	9	0.15066	T	0.55	.	6.115	0.20122	0.1905:0.245:0.5645:0.0	.	3738	Q685J3	MUC17_HUMAN	V	3738	ENSP00000302716:L3738V	ENSP00000302716:L3738V	L	+	1	0	MUC17	100472629	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.792000	0.01756	-1.487000	0.01849	-0.738000	0.03535	CTT	MUC17	-	NULL		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100685909	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.000	G
MUC5AC	4586	genome.wustl.edu	37	11	1213058	1213058	+	3'UTR	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:1213058C>G	ENST00000358378.6	+	0	299							P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		AGCACAACCTCTGGTCCTGGA	0.582																																																	0													75.0	71.0	72.0					11																	1213058		875	1990	2865	SO:0001624	3_prime_UTR_variant	4586			AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000358378.6:c.*296C>G	11.37:g.1213058C>G			O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	RNA	SNP	-	NULL	ENST00000358378.6	37	NULL		11																																																																																			MUC5AC	-	-		0.582	MUC5AC-002	PUTATIVE	basic|exp_conf	processed_transcript	MUC5AC	HGNC	protein_coding	OTTHUMT00000396096.2	C	XM_001130382		1213058	+1	no_errors	ENST00000358378	ensembl	human	putative	70_37	rna	SNP	0.006	G
MUC6	4588	genome.wustl.edu	37	11	1028329	1028329	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:1028329G>A	ENST00000421673.2	-	14	1700	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	550	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.I550I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCCCTCGGCGATACCCATGC	0.652																																																	2	Substitution - coding silent(2)	cervix(2)											45.0	55.0	52.0					11																	1028329		2135	4225	6360	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1650C>T	11.37:g.1028329G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.I550	ENST00000421673.2	37	c.1650	CCDS44513.1	11																																																																																			MUC6	-	NULL		0.652	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	G	XM_290540		1028329	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	silent	SNP	0.114	A
MUC6	4588	genome.wustl.edu	37	11	1028943	1028943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:1028943G>A	ENST00000421673.2	-	12	1449	c.1399C>T	c.(1399-1401)Cag>Tag	p.Q467*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	467	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.Q467*(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCGTCCTGAGAGATCACA	0.617																																																	2	Substitution - Nonsense(2)	cervix(2)											87.0	98.0	94.0					11																	1028943		2117	4242	6359	SO:0001587	stop_gained	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1399C>T	11.37:g.1028943G>A	ENSP00000406861:p.Gln467*		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.Q467*	ENST00000421673.2	37	c.1399	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895449	0.91962	.	.	ENSG00000184956	ENST00000421673	.	.	.	4.19	3.26	0.37387	.	0.000000	0.29987	U	0.010684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8877	0.46976	0.0:0.2478:0.7522:0.0	.	.	.	.	X	467	.	ENSP00000406861:Q467X	Q	-	1	0	MUC6	1018943	0.449000	0.25689	0.837000	0.33122	0.154000	0.21943	1.841000	0.39240	0.886000	0.36113	0.313000	0.20887	CAG	MUC6	-	pfam_VWF_type-D,smart_VWF_type-D		0.617	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	G	XM_290540		1028943	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	nonsense	SNP	0.978	A
MUC5B	727897	genome.wustl.edu	37	11	1269780	1269780	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:1269780G>C	ENST00000529681.1	+	31	11728	c.11670G>C	c.(11668-11670)tgG>tgC	p.W3890C	MUC5B_ENST00000447027.1_Missense_Mutation_p.W3893C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3890	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.W3845C(1)|p.W3890C(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAGTGTGGATCAGCACAA	0.647																																																	2	Substitution - Missense(2)	cervix(2)											121.0	146.0	137.0					11																	1269780		2108	4212	6320	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11670G>C	11.37:g.1269780G>C	ENSP00000436812:p.Trp3890Cys		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,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.W3893C	ENST00000529681.1	37	c.11679	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	0.956	-0.704801	0.03255	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22134	1.97;2.15	0.49	0.49	0.16861	.	.	.	.	.	T	0.10337	0.0253	N	0.24115	0.695	0.09310	N	1	P;B	0.37101	0.582;0.428	B;B	0.23018	0.043;0.03	T	0.19712	-1.0297	8	0.87932	D	0	.	.	.	.	.	4418;3893	A7Y9J9;E9PBJ0	.;.	C	3890;3893;3834;3795	ENSP00000436812:W3890C;ENSP00000415793:W3893C	ENSP00000343037:W3834C	W	+	3	0	MUC5B	1226356	0.031000	0.19500	0.006000	0.13384	0.010000	0.07245	-0.345000	0.07770	0.510000	0.28216	0.194000	0.17425	TGG	MUC5B	-	NULL		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1269780	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.008	C
MYBPC2	4606	genome.wustl.edu	37	19	50957566	50957566	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50957566G>C	ENST00000357701.5	+	18	2005	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	652	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E652Q(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CTCGGTTGGAGAGGATTGGGC	0.632																																																	1	Substitution - Missense(1)	cervix(1)											42.0	45.0	44.0					19																	50957566		2052	4184	6236	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1954G>C	19.37:g.50957566G>C	ENSP00000350332:p.Glu652Gln		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E652Q	ENST00000357701.5	37	c.1954	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	g	19.88	3.908779	0.72868	.	.	ENSG00000086967	ENST00000357701	T	0.58652	0.32	3.47	3.47	0.39725	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.35262	U	0.003327	T	0.64438	0.2598	L	0.58583	1.82	0.41687	D	0.989323	P	0.45986	0.87	P	0.53988	0.739	T	0.63567	-0.6608	10	0.29301	T	0.29	.	14.2554	0.66048	0.0:0.0:1.0:0.0	.	652	Q14324	MYPC2_HUMAN	Q	652	ENSP00000350332:E652Q	ENSP00000350332:E652Q	E	+	1	0	MYBPC2	55649378	1.000000	0.71417	0.994000	0.49952	0.822000	0.46500	8.625000	0.90965	1.978000	0.57642	0.450000	0.29827	GAG	MYBPC2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.632	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	G	NM_004533		50957566	+1	no_errors	ENST00000357701	ensembl	human	known	70_37	missense	SNP	1.000	C
MYBPC2	4606	genome.wustl.edu	37	19	50962466	50962466	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50962466C>T	ENST00000357701.5	+	23	2745	c.2694C>T	c.(2692-2694)ttC>ttT	p.F898F		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	898	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.F898F(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCGTGTTCTTCGTGCGCCAGG	0.687																																																	1	Substitution - coding silent(1)	cervix(1)											16.0	20.0	19.0					19																	50962466		2084	4192	6276	SO:0001819	synonymous_variant	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2694C>T	19.37:g.50962466C>T			A1L4G9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F898	ENST00000357701.5	37	c.2694	CCDS46152.1	19																																																																																			MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.687	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50962466	+1	no_errors	ENST00000357701	ensembl	human	known	70_37	silent	SNP	1.000	T
MYH13	8735	genome.wustl.edu	37	17	10210315	10210315	+	Missense_Mutation	SNP	C	C	G	rs369023941		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:10210315C>G	ENST00000418404.3	-	35	5399	c.5236G>C	c.(5236-5238)Gag>Cag	p.E1746Q	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E1746Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1746					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1746Q(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATCGAGTTCTCCACCTCTGCC	0.488																																																	2	Substitution - Missense(2)	cervix(2)											97.0	100.0	99.0					17																	10210315		2200	4300	6500	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5236G>C	17.37:g.10210315C>G	ENSP00000404570:p.Glu1746Gln		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1746Q	ENST00000418404.3	37	c.5236	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138083	0.77775	.	.	ENSG00000006788	ENST00000252172	D	0.81908	-1.55	4.1	3.12	0.35913	Myosin tail (1);	.	.	.	.	D	0.93268	0.7855	H	0.97131	3.945	0.38303	D	0.943026	D	0.64830	0.994	D	0.72338	0.977	D	0.95091	0.8222	9	0.66056	D	0.02	.	12.305	0.54898	0.0:0.9166:0.0:0.0834	.	1746	Q9UKX3	MYH13_HUMAN	Q	1746	ENSP00000252172:E1746Q	ENSP00000252172:E1746Q	E	-	1	0	MYH13	10151040	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.612000	0.82975	1.057000	0.40506	0.563000	0.77884	GAG	MYH13	-	pfam_Myosin_tail		0.488	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10210315	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH15	22989	genome.wustl.edu	37	3	108189047	108189047	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:108189047C>G	ENST00000273353.3	-	15	1512	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	486	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E486Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CAAAGTTGCTCAAGGCTATTA	0.308																																																	1	Substitution - Missense(1)	cervix(1)											69.0	63.0	65.0					3																	108189047		1798	4085	5883	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1456G>C	3.37:g.108189047C>G	ENSP00000273353:p.Glu486Gln			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E486Q	ENST00000273353.3	37	c.1456	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797628	0.70567	.	.	ENSG00000144821	ENST00000273353	D	0.92149	-2.98	6.05	5.18	0.71444	Myosin head, motor domain (3);	.	.	.	.	D	0.97958	0.9328	H	0.99435	4.565	0.51012	D	0.999905	D	0.76494	0.999	D	0.74023	0.982	D	0.99391	1.0925	9	0.87932	D	0	.	15.3314	0.74215	0.0:0.9334:0.0:0.0666	.	486	Q9Y2K3	MYH15_HUMAN	Q	486	ENSP00000273353:E486Q	ENSP00000273353:E486Q	E	-	1	0	MYH15	109671737	1.000000	0.71417	0.018000	0.16275	0.782000	0.44232	5.978000	0.70501	1.577000	0.49804	0.650000	0.86243	GAG	MYH15	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.308	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108189047	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH3	4621	genome.wustl.edu	37	17	10558218	10558218	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:10558218G>A	ENST00000583535.1	-	3	251	c.164C>T	c.(163-165)tCt>tTt	p.S55F	MYH3_ENST00000226209.7_Missense_Mutation_p.S55F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	55					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.S55F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCCATCCTGAGAACTCTTGAT	0.537																																																	1	Substitution - Missense(1)	cervix(1)											271.0	250.0	257.0					17																	10558218		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.164C>T	17.37:g.10558218G>A	ENSP00000464317:p.Ser55Phe		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S55F	ENST00000583535.1	37	c.164	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790733	0.50102	.	.	ENSG00000109063	ENST00000226209	T	0.80909	-1.43	5.49	3.36	0.38483	Myosin, N-terminal, SH3-like (1);	.	.	.	.	D	0.87014	0.6072	L	0.41492	1.28	0.09310	N	1	B	0.25272	0.122	P	0.53593	0.73	T	0.83125	-0.0116	9	0.72032	D	0.01	.	17.1772	0.86844	0.0:0.4258:0.5742:0.0	.	55	P11055	MYH3_HUMAN	F	55	ENSP00000226209:S55F	ENSP00000226209:S55F	S	-	2	0	MYH3	10498943	0.000000	0.05858	0.407000	0.26434	0.890000	0.51754	0.189000	0.17037	0.746000	0.32786	0.655000	0.94253	TCT	MYH3	-	pfam_Myosin_N		0.537	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	G	NM_002470		10558218	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	missense	SNP	0.004	A
MYH9	4627	genome.wustl.edu	37	22	36684429	36684429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:36684429C>A	ENST00000216181.5	-	34	5031	c.4801G>T	c.(4801-4803)Gag>Tag	p.E1601*	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1601					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)	p.E1601*(1)		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						TGCTTCCTCTCGTCCTCCAGC	0.617			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	1	Substitution - Nonsense(1)	cervix(1)											88.0	72.0	77.0					22																	36684429		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.4801G>T	22.37:g.36684429C>A	ENSP00000216181:p.Glu1601*		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.E1601*	ENST00000216181.5	37	c.4801	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	47	13.373651	0.99738	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	.	.	.	X	1023;203;1601	.	ENSP00000216181:E1601X	E	-	1	0	MYH9	35014375	1.000000	0.71417	0.990000	0.47175	0.972000	0.66771	7.776000	0.85560	2.735000	0.93741	0.655000	0.94253	GAG	MYH9	-	pfam_Myosin_tail		0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36684429	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MYH9	4627	genome.wustl.edu	37	22	36710324	36710324	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:36710324C>G	ENST00000216181.5	-	13	1650	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	474	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)	p.E474Q(1)		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						TGCAGCTTCTCATTGGTGTAA	0.527			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	1	Substitution - Missense(1)	cervix(1)											168.0	131.0	144.0					22																	36710324		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.1420G>C	22.37:g.36710324C>G	ENSP00000216181:p.Glu474Gln		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.E474Q	ENST00000216181.5	37	c.1420	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132847	0.77662	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.82803	-1.65	5.05	5.05	0.67936	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	H	0.98849	4.35	0.80722	D	1	B	0.25904	0.137	B	0.20767	0.031	D	0.91147	0.4950	10	0.87932	D	0	.	18.4598	0.90735	0.0:1.0:0.0:0.0	.	474	P35579	MYH9_HUMAN	Q	338;474	ENSP00000216181:E474Q	ENSP00000216181:E474Q	E	-	1	0	MYH9	35040270	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.524000	0.85096	0.558000	0.71614	GAG	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.527	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36710324	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	G
MYLK4	340156	genome.wustl.edu	37	6	2749514	2749514	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:2749514C>G	ENST00000274643.7	-	2	357	c.15G>C	c.(13-15)aaG>aaC	p.K5N	MYLK4_ENST00000268446.5_Missense_Mutation_p.K5N	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	5						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K5N(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CTTCCAGCCTCTTCACTTTTA	0.418																																																	2	Substitution - Missense(2)	cervix(2)											111.0	113.0	112.0					6																	2749514		2203	4300	6503	SO:0001583	missense	340156				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.15G>C	6.37:g.2749514C>G	ENSP00000274643:p.Lys5Asn		A2RUC0|Q5TAW2	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.K5N	ENST00000274643.7	37	c.15	CCDS34330.1	6	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376308	0.42105	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.67523	0.04;-0.27	5.58	1.31	0.21738	.	.	.	.	.	T	0.19005	0.0456	N	0.08118	0	0.30717	N	0.748691	B	0.06786	0.001	B	0.06405	0.002	T	0.04565	-1.0942	9	0.33940	T	0.23	.	3.235	0.06761	0.2031:0.3162:0.3864:0.0943	.	5	Q86YV6	MYLK4_HUMAN	N	5	ENSP00000268446:K5N;ENSP00000274643:K5N	ENSP00000268446:K5N	K	-	3	2	MYLK4	2694513	0.987000	0.35691	0.991000	0.47740	0.840000	0.47671	0.072000	0.14617	0.263000	0.21812	0.655000	0.94253	AAG	MYLK4	-	NULL		0.418	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK4	HGNC	protein_coding	OTTHUMT00000039632.2	C	NM_001012418		2749514	-1	no_errors	ENST00000268446	ensembl	human	known	70_37	missense	SNP	0.998	G
MYO10	4651	genome.wustl.edu	37	5	16701893	16701893	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:16701893C>T	ENST00000513610.1	-	25	3065	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000505695.1_Missense_Mutation_p.E210K|MYO10_ENST00000427430.2_Missense_Mutation_p.E228K|MYO10_ENST00000274203.9_Missense_Mutation_p.E228K|MYO10_ENST00000515803.1_Missense_Mutation_p.E210K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	871					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)	p.E871K(1)		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						AGTTCAGCTTCCTTCTGGCTC	0.488																																																	1	Substitution - Missense(1)	cervix(1)											52.0	51.0	52.0					5																	16701893		1943	4155	6098	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.2611G>A	5.37:g.16701893C>T	ENSP00000421280:p.Glu871Lys		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.E871K	ENST00000513610.1	37	c.2611	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	12.17	1.859095	0.32884	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.54	4.54	0.55810	.	.	.	.	.	T	0.36082	0.0954	L	0.40543	1.245	0.49130	D	0.999755	B;B	0.20780	0.048;0.0	B;B	0.20767	0.031;0.001	T	0.25950	-1.0117	9	0.62326	D	0.03	.	13.1171	0.59305	0.0:0.8392:0.1607:0.0	.	512;871	Q69YP8;Q9HD67	.;MYO10_HUMAN	K	871;210;228;210;228	ENSP00000421280:E871K;ENSP00000425051:E210K;ENSP00000274203:E228K;ENSP00000421170:E210K;ENSP00000391106:E228K	ENSP00000274203:E228K	E	-	1	0	MYO10	16754893	0.058000	0.20735	0.089000	0.20774	0.420000	0.31355	1.221000	0.32503	2.078000	0.62432	0.563000	0.77884	GAA	MYO10	-	NULL		0.488	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	C	NM_012334		16701893	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	missense	SNP	0.820	T
MYO1A	4640	genome.wustl.edu	37	12	57433069	57433069	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:57433069G>C	ENST00000442789.2	-	16	1557				MYO1A_ENST00000300119.3_Intron|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Intron	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA						microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTGGTCAGGGGAGACAACAAA	0.478																																																	0													120.0	94.0	103.0					12																	57433069		2203	4300	6503	SO:0001627	intron_variant	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1270-11C>G	12.37:g.57433069G>C			Q9UQD7	RNA	SNP	-	NULL	ENST00000442789.2	37	NULL	CCDS8929.1	12																																																																																			MYO1A	-	-		0.478	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	G	NM_005379		57433069	-1	no_errors	ENST00000476795	ensembl	human	putative	70_37	rna	SNP	0.000	C
MYO1G	64005	genome.wustl.edu	37	7	45015178	45015178	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:45015178G>C	ENST00000258787.7	-	4	605	c.469C>G	c.(469-471)Cac>Gac	p.H157D		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	157	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGGAGTTGTGATTGCGGTTG	0.577																																																	0													114.0	108.0	110.0					7																	45015178		2203	4300	6503	SO:0001583	missense	64005			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.469C>G	7.37:g.45015178G>C	ENSP00000258787:p.His157Asp		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.H157D	ENST00000258787.7	37	c.469	CCDS34629.1	7	.	.	.	.	.	.	.	.	.	.	G	2.239	-0.374345	0.05034	.	.	ENSG00000136286	ENST00000258787	D	0.85171	-1.95	4.44	2.6	0.31112	Myosin head, motor domain (3);	0.000000	0.42821	D	0.000650	T	0.45034	0.1322	N	0.00179	-1.91	0.37516	D	0.917335	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.52442	-0.8575	10	0.02654	T	1	.	3.5261	0.07760	0.0921:0.2719:0.4813:0.1547	.	157;157	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	D	157	ENSP00000258787:H157D	ENSP00000258787:H157D	H	-	1	0	MYO1G	44981703	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.288000	0.65651	0.594000	0.29761	-0.136000	0.14681	CAC	MYO1G	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.577	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1G	HGNC	protein_coding	OTTHUMT00000341832.2	G			45015178	-1	no_errors	ENST00000258787	ensembl	human	known	70_37	missense	SNP	1.000	C
MYO9A	4649	genome.wustl.edu	37	15	72231235	72231235	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:72231235G>C	ENST00000356056.5	-	16	2808	c.2336C>G	c.(2335-2337)tCt>tGt	p.S779C	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.S760C|MYO9A_ENST00000424560.1_Missense_Mutation_p.S779C|MYO9A_ENST00000564571.1_Missense_Mutation_p.S779C|MYO9A_ENST00000566885.1_Missense_Mutation_p.S399C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	779	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.S779C(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGGAGATCAGAAAGAGGTGT	0.318																																																	1	Substitution - Missense(1)	cervix(1)											72.0	73.0	73.0					15																	72231235		2199	4296	6495	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2336C>G	15.37:g.72231235G>C	ENSP00000348349:p.Ser779Cys		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.S779C	ENST00000356056.5	37	c.2336	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165925	0.78339	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.87103	-2.21;-2.21;-2.2	5.45	5.45	0.79879	Myosin head, motor domain (1);	.	.	.	.	D	0.91898	0.7435	M	0.61703	1.905	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.995;0.998	D;P;P	0.72075	0.976;0.818;0.887	D	0.92082	0.5673	9	0.59425	D	0.04	.	14.7606	0.69604	0.0:0.0:1.0:0.0	.	760;760;779	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	C	779;779;760;760	ENSP00000348349:S779C;ENSP00000399162:S779C;ENSP00000398250:S760C	ENSP00000261864:S760C	S	-	2	0	MYO9A	70018289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.066000	0.76734	2.573000	0.86826	0.585000	0.79938	TCT	MYO9A	-	smart_Myosin_head_motor_dom		0.318	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	G	NM_006901		72231235	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	missense	SNP	1.000	C
MYOT	9499	genome.wustl.edu	37	5	137219244	137219244	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:137219244G>A	ENST00000239926.4	+	7	1362	c.988G>A	c.(988-990)Gga>Aga	p.G330R	MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.G215R|MYOT_ENST00000421631.2_Missense_Mutation_p.G146R	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	330	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.G330R(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAATAGAGCAGGAGAAGCCAC	0.428																																																	1	Substitution - Missense(1)	cervix(1)											80.0	76.0	77.0					5																	137219244		2203	4300	6503	SO:0001583	missense	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.988G>A	5.37:g.137219244G>A	ENSP00000239926:p.Gly330Arg		A0A4R6|B4DT79	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G330R	ENST00000239926.4	37	c.988	CCDS4194.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.095293	0.94197	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	D;D;D	0.81739	-1.53;-1.53;-1.53	4.87	4.87	0.63330	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	D	0.92747	0.7694	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94807	0.7975	10	0.87932	D	0	.	18.3893	0.90477	0.0:0.0:1.0:0.0	.	330	Q9UBF9	MYOTI_HUMAN	R	330;146;215	ENSP00000239926:G330R;ENSP00000391185:G146R;ENSP00000426281:G215R	ENSP00000239926:G330R	G	+	1	0	MYOT	137247143	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.387000	0.81309	0.655000	0.94253	GGA	MYOT	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.428	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOT	HGNC	protein_coding	OTTHUMT00000251219.2	G	NM_006790		137219244	+1	no_errors	ENST00000239926	ensembl	human	known	70_37	missense	SNP	1.000	A
NACA	4666	genome.wustl.edu	37	12	57107411	57107411	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:57107411C>T	ENST00000454682.1	-	6	6161	c.5880G>A	c.(5878-5880)cgG>cgA	p.R1960R	NACA_ENST00000546392.1_Silent_p.R97R|NACA_ENST00000552540.1_Silent_p.R97R|NACA_ENST00000393891.4_Silent_p.R97R|NACA_ENST00000548563.1_Silent_p.R18R|NACA_ENST00000356769.3_Silent_p.R97R|NACA_ENST00000551793.1_5'Flank|NACA_ENST00000550952.1_Silent_p.R807R	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1960	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R97R(1)|p.R807R(1)|p.R1960R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTTAGATTTCCGGATAGTGA	0.408			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	3	Substitution - coding silent(3)	cervix(3)											154.0	158.0	156.0					12																	57107411		2203	4300	6503	SO:0001819	synonymous_variant	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5880G>A	12.37:g.57107411C>T				Missense_Mutation	SNP	NULL	p.G49E	ENST00000454682.1	37	c.146		12																																																																																			NACA	-	NULL		0.408	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		C	NM_005594		57107411	-1	no_errors	ENST00000547914	ensembl	human	known	70_37	missense	SNP	1.000	T
NASP	4678	genome.wustl.edu	37	1	46073526	46073526	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:46073526G>C	ENST00000350030.3	+	6	1030	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.E251Q|NASP_ENST00000402363.3_Missense_Mutation_p.E317Q	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	315	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.E317Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGACGAGCCAGAGGAGAAGGT	0.537																																																	1	Substitution - Missense(1)	cervix(1)											57.0	57.0	57.0					1																	46073526		2203	4300	6503	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.943G>C	1.37:g.46073526G>C	ENSP00000255120:p.Glu315Gln		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E317Q	ENST00000350030.3	37	c.949	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	G	6.502	0.460851	0.12342	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D	0.94723	-3.5;-3.5;-3.5	5.11	0.405	0.16361	.	0.619397	0.16186	N	0.225630	D	0.87038	0.6078	N	0.19112	0.55	0.20489	N	0.999892	B;B;B;B;B	0.28128	0.178;0.201;0.201;0.047;0.178	B;B;B;B;B	0.28139	0.054;0.039;0.039;0.024;0.086	T	0.75158	-0.3416	9	.	.	.	-1.5212	9.7861	0.40677	0.4697:0.0:0.5303:0.0	.	251;315;215;315;317	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	Q	251;317;215;315;278	ENSP00000438871:E251Q;ENSP00000384529:E317Q;ENSP00000255120:E315Q	.	E	+	1	0	NASP	45846113	0.019000	0.18553	0.921000	0.36526	0.497000	0.33675	0.993000	0.29680	0.152000	0.19188	-0.391000	0.06502	GAG	NASP	-	NULL		0.537	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	G	NM_002482		46073526	+1	no_errors	ENST00000402363	ensembl	human	known	70_37	missense	SNP	0.662	C
NBEAL1	65065	genome.wustl.edu	37	2	204075737	204075737	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:204075737C>G	ENST00000449802.1	+	53	8088	c.7755C>G	c.(7753-7755)atC>atG	p.I2585M		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2585								p.I1295M(1)|p.I2585M(1)		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						GGTCTCAAATCCTGAAGGAAC	0.333																																																	2	Substitution - Missense(2)	cervix(2)											71.0	68.0	69.0					2																	204075737		1832	4085	5917	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.7755C>G	2.37:g.204075737C>G	ENSP00000399903:p.Ile2585Met		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.I2585M	ENST00000449802.1	37	c.7755	CCDS46495.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.638|8.638	0.895286|0.895286	0.17613|0.17613	.|.	.|.	ENSG00000144426|ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576|ENST00000434469	T;T|.	0.29142|.	5.0;1.58|.	4.95|4.95	1.11|1.11	0.20524|0.20524	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.852653|.	0.10765|.	N|.	0.636642|.	T|T	0.18299|0.18299	0.0439|0.0439	N|N	0.08118|0.08118	0|0	0.22591|0.22591	N|N	0.998957|0.998957	B;B;B|.	0.20164|.	0.001;0.042;0.02|.	B;B;B|.	0.22152|.	0.002;0.038;0.027|.	T|T	0.29058|0.29058	-1.0024|-1.0024	10|5	0.45353|.	T|.	0.12|.	.|.	9.3444|9.3444	0.38100|0.38100	0.0:0.5235:0.0:0.4765|0.0:0.5235:0.0:0.4765	.|.	1295;2585;2574|.	D1MPS9;Q6ZS30;C9JGK5|.	.;NBEL1_HUMAN;.|.	M|C	2585;2495;600|113	ENSP00000399903:I2585M;ENSP00000388466:I600M|.	ENSP00000344985:I2495M|.	I|S	+|+	3|2	3|0	NBEAL1|NBEAL1	203783982|203783982	0.972000|0.972000	0.33761|0.33761	0.759000|0.759000	0.31340|0.31340	0.720000|0.720000	0.41350|0.41350	0.487000|0.487000	0.22356|0.22356	0.152000|0.152000	0.19188|0.19188	-0.424000|-0.424000	0.05967|0.05967	ATC|TCC	NBEAL1	-	superfamily_WD40_repeat_dom		0.333	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	C			204075737	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	0.709	G
NBEAL2	23218	genome.wustl.edu	37	3	47042572	47042572	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:47042572G>A	ENST00000450053.3	+	28	4566	c.4387G>A	c.(4387-4389)Gag>Aag	p.E1463K	NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1279K|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1463					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.E1463K(1)|p.E840K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGGCAGCGATGAGGCTGCCTG	0.627																																																	2	Substitution - Missense(2)	cervix(2)											62.0	78.0	73.0					3																	47042572		2141	4246	6387	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4387G>A	3.37:g.47042572G>A	ENSP00000415034:p.Glu1463Lys		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1463K	ENST00000450053.3	37	c.4387	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.657245|4.657245	0.88154|0.88154	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053|ENST00000416683	T;T|.	0.56776|.	0.45;0.44|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.182766|.	0.46758|.	D|.	0.000263|.	T|T	0.56171|0.56171	0.1967|0.1967	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P|.	0.43885|.	0.82|.	P|.	0.48304|.	0.573|.	T|T	0.50004|0.50004	-0.8878|-0.8878	10|5	0.21014|.	T|.	0.42|.	.|.	16.4095|16.4095	0.83703|0.83703	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1463|.	Q6ZNJ1|.	NBEL2_HUMAN|.	K|I	1279;1463|750	ENSP00000292309:E1279K;ENSP00000415034:E1463K|.	ENSP00000292309:E1279K|.	E|M	+|+	1|3	0|0	NBEAL2|NBEAL2	47017576|47017576	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.948000|0.948000	0.59901|0.59901	9.577000|9.577000	0.98196|0.98196	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAG|ATG	NBEAL2	-	NULL		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47042572	+1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	1.000	A
NBR1	4077	genome.wustl.edu	37	17	41345409	41345409	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:41345409G>C	ENST00000422280.1	+	12	1737	c.1278G>C	c.(1276-1278)aaG>aaC	p.K426N	NBR1_ENST00000389312.4_Missense_Mutation_p.K426N|NBR1_ENST00000589872.1_Missense_Mutation_p.K426N|NBR1_ENST00000590996.1_Missense_Mutation_p.K426N|NBR1_ENST00000341165.6_Missense_Mutation_p.K426N|NBR1_ENST00000542611.1_Missense_Mutation_p.K405N	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	426					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.K426N(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CCACAGAAAAGAAGGATGTTT	0.498																																																	1	Substitution - Missense(1)	cervix(1)											108.0	105.0	106.0					17																	41345409		1924	4125	6049	SO:0001583	missense	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1278G>C	17.37:g.41345409G>C	ENSP00000411250:p.Lys426Asn		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.K426N	ENST00000422280.1	37	c.1278	CCDS45694.1	17	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805272	0.50315	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.46063	1.47;0.88;1.47;1.47	6.17	4.12	0.48240	.	0.449748	0.24642	N	0.036788	T	0.45915	0.1366	L	0.56769	1.78	0.36450	D	0.866004	B;B;P;B	0.37500	0.411;0.177;0.597;0.177	B;B;P;B	0.44518	0.265;0.184;0.452;0.239	T	0.52946	-0.8507	10	0.42905	T	0.14	-4.8018	11.3723	0.49707	0.0639:0.3532:0.5828:0.0	.	426;405;426;426	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	N	426;405;426;426;426	ENSP00000411250:K426N;ENSP00000437545:K405N;ENSP00000343479:K426N;ENSP00000373963:K426N	ENSP00000343479:K426N	K	+	3	2	NBR1	38598935	0.849000	0.29639	1.000000	0.80357	0.991000	0.79684	1.137000	0.31479	0.868000	0.35678	0.655000	0.94253	AAG	NBR1	-	NULL		0.498	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBR1	HGNC	protein_coding	OTTHUMT00000453461.1	G	NM_005899		41345409	+1	no_errors	ENST00000341165	ensembl	human	known	70_37	missense	SNP	1.000	C
NCAM2	4685	genome.wustl.edu	37	21	22707864	22707864	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:22707864G>C	ENST00000400546.1	+	7	1026	c.777G>C	c.(775-777)ttG>ttC	p.L259F	NCAM2_ENST00000535285.1_Missense_Mutation_p.L284F|NCAM2_ENST00000284894.7_Missense_Mutation_p.L117F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	259	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L259F(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTACATATTGAAAGGGAGCA	0.378																																																	1	Substitution - Missense(1)	cervix(1)											84.0	77.0	79.0					21																	22707864		1877	4104	5981	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.777G>C	21.37:g.22707864G>C	ENSP00000383392:p.Leu259Phe		A8MQ06|B7Z841|Q7Z7F2	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,prints_Neural_cell_adh	p.L259F	ENST00000400546.1	37	c.777	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	2.204	-0.382384	0.04966	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.68181	-0.31;-0.31;-0.31	5.32	3.49	0.39957	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.275753	0.37348	N	0.002136	T	0.58652	0.2137	N	0.13299	0.325	0.37635	D	0.921828	D;D;D	0.76494	0.999;0.999;0.973	D;D;P	0.72625	0.978;0.965;0.76	T	0.60831	-0.7185	10	0.02654	T	1	-4.264	7.7466	0.28873	0.2633:0.0:0.7366:0.0	.	284;117;259	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	F	259;117;284	ENSP00000383392:L259F;ENSP00000284894:L117F;ENSP00000441887:L284F	ENSP00000284894:L117F	L	+	3	2	NCAM2	21629735	1.000000	0.71417	0.933000	0.37362	0.048000	0.14542	1.312000	0.33574	0.606000	0.29965	0.460000	0.39030	TTG	NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.378	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	G	NM_004540		22707864	+1	no_errors	ENST00000400546	ensembl	human	known	70_37	missense	SNP	0.994	C
NCAPD2	9918	genome.wustl.edu	37	12	6639978	6639978	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:6639978C>G	ENST00000315579.5	+	30	4758	c.3959C>G	c.(3958-3960)tCc>tGc	p.S1320C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S1275C|RP5-940J5.3_ENST00000537921.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1320					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.S1320C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AAGAAACCATCCACTGGTACG	0.532																																																	1	Substitution - Missense(1)	cervix(1)											63.0	64.0	64.0					12																	6639978		2203	4300	6503	SO:0001583	missense	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3959C>G	12.37:g.6639978C>G	ENSP00000325017:p.Ser1320Cys		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.S1320C	ENST00000315579.5	37	c.3959	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	14.65	2.600060	0.46318	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.19669	2.4;2.13	5.42	-0.186	0.13272	.	2.410330	0.01107	N	0.005482	T	0.16599	0.0399	N	0.22421	0.69	0.09310	N	1	P;P	0.39964	0.697;0.661	B;B	0.40565	0.333;0.293	T	0.18147	-1.0346	10	0.56958	D	0.05	0.0122	4.8905	0.13724	0.1091:0.451:0.3207:0.1191	.	1275;1320	F5GZJ1;Q15021	.;CND1_HUMAN	C	1320;1275	ENSP00000325017:S1320C;ENSP00000444417:S1275C	ENSP00000325017:S1320C	S	+	2	0	NCAPD2	6510239	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.084000	0.11268	0.206000	0.20587	0.561000	0.74099	TCC	NCAPD2	-	pirsf_Condensin_cplx_su1		0.532	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	C	NM_014865		6639978	+1	no_errors	ENST00000315579	ensembl	human	known	70_37	missense	SNP	0.000	G
NCAPD3	23310	genome.wustl.edu	37	11	134027950	134027950	+	Silent	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:134027950C>A	ENST00000534548.2	-	31	4111	c.4047G>T	c.(4045-4047)ctG>ctT	p.L1349L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1349					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.L1349L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CAATGGTGCTCAGGGACATGG	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											102.0	103.0	102.0					11																	134027950		2201	4297	6498	SO:0001819	synonymous_variant	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4047G>T	11.37:g.134027950C>A			A6NFS2|Q4KMQ9	Silent	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.L1349	ENST00000534548.2	37	c.4047	CCDS31723.1	11																																																																																			NCAPD3	-	pirsf_NCAPD3		0.552	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	C	NM_015261		134027950	-1	no_errors	ENST00000534548	ensembl	human	known	70_37	silent	SNP	1.000	A
NCAPD3	23310	genome.wustl.edu	37	11	134047138	134047138	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:134047138G>A	ENST00000534548.2	-	23	3061	c.2997C>T	c.(2995-2997)ctC>ctT	p.L999L	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	999					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.L999L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TAAGCAAGATGAGTGTCTGCT	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											177.0	152.0	161.0					11																	134047138		2201	4297	6498	SO:0001819	synonymous_variant	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2997C>T	11.37:g.134047138G>A			A6NFS2|Q4KMQ9	Silent	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.L999	ENST00000534548.2	37	c.2997	CCDS31723.1	11																																																																																			NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3		0.478	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	G	NM_015261		134047138	-1	no_errors	ENST00000534548	ensembl	human	known	70_37	silent	SNP	0.624	A
NCAPH2	29781	genome.wustl.edu	37	22	50957693	50957693	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:50957693G>C	ENST00000420993.2	+	9	927	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	NCAPH2_ENST00000395698.3_Missense_Mutation_p.E269Q|NCAPH2_ENST00000299821.11_Missense_Mutation_p.E269Q|NCAPH2_ENST00000395701.3_Missense_Mutation_p.E269Q	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	269					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.E269Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|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;0.212)		AGAGCTTCCTGAGGCCTCGGC	0.662																																																	2	Substitution - Missense(2)	cervix(2)											25.0	33.0	30.0					22																	50957693		2198	4299	6497	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.805G>C	22.37:g.50957693G>C	ENSP00000410088:p.Glu269Gln		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.E269Q	ENST00000420993.2	37	c.805	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541608	0.45280	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	3.93	2.9	0.33743	.	1.031210	0.07772	N	0.951956	T	0.60650	0.2285	M	0.65975	2.015	0.09310	N	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.996	D;D;D;D;D	0.87578	0.961;0.997;0.997;0.998;0.986	T	0.37596	-0.9699	9	0.46703	T	0.11	-6.5649	7.7312	0.28788	0.1214:0.0:0.8786:0.0	.	269;269;247;269;269	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.;.;.;CNDH2_HUMAN;.	Q	269;269;269;235;269	.	ENSP00000299821:E269Q	E	+	1	0	NCAPH2	49304559	0.920000	0.31207	0.049000	0.19019	0.141000	0.21300	2.637000	0.46553	0.775000	0.33450	0.462000	0.41574	GAG	NCAPH2	-	pfam_Condensin_II_H2-like		0.662	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	G	NM_152299		50957693	+1	no_errors	ENST00000299821	ensembl	human	known	70_37	missense	SNP	0.016	C
NCKAP1L	3071	genome.wustl.edu	37	12	54925340	54925340	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:54925340G>C	ENST00000293373.6	+	24	2749	c.2670G>C	c.(2668-2670)ttG>ttC	p.L890F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L840F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	890					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.L890F(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGCCGGACTTGATGGCTTCCC	0.483																																																	1	Substitution - Missense(1)	cervix(1)											106.0	101.0	103.0					12																	54925340		2203	4300	6503	SO:0001583	missense	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2670G>C	12.37:g.54925340G>C	ENSP00000293373:p.Leu890Phe		B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.L890F	ENST00000293373.6	37	c.2670	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840462	0.32513	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30714	1.52;1.52	4.79	1.73	0.24493	.	0.399608	0.22768	N	0.055876	T	0.17704	0.0425	L	0.29908	0.895	0.33646	D	0.607903	B	0.33413	0.411	B	0.34242	0.178	T	0.18272	-1.0342	10	0.56958	D	0.05	-3.0561	1.7174	0.02905	0.1863:0.1589:0.4914:0.1635	.	890	P55160	NCKPL_HUMAN	F	890;840	ENSP00000293373:L890F;ENSP00000445596:L840F	ENSP00000293373:L890F	L	+	3	2	NCKAP1L	53211607	0.996000	0.38824	0.898000	0.35279	0.794000	0.44872	0.670000	0.25157	0.721000	0.32231	0.655000	0.94253	TTG	NCKAP1L	-	pfam_Nck-associated_protein-1		0.483	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	G	NM_005337		54925340	+1	no_errors	ENST00000293373	ensembl	human	known	70_37	missense	SNP	0.797	C
NCOR1	9611	genome.wustl.edu	37	17	16021223	16021223	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:16021223G>A	ENST00000268712.3	-	18	2291	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Silent_p.L569L|NCOR1_ENST00000395851.1_Silent_p.L678L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	678					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.L678L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTGCTGTAAGAGGTTGTCAA	0.373																																																	1	Substitution - coding silent(1)	cervix(1)											182.0	151.0	161.0					17																	16021223		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2034C>T	17.37:g.16021223G>A			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L678	ENST00000268712.3	37	c.2034	CCDS11175.1	17																																																																																			NCOR1	-	NULL		0.373	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	G	NM_006311		16021223	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	silent	SNP	0.987	A
NCSTN	23385	genome.wustl.edu	37	1	160326680	160326680	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:160326680G>C	ENST00000294785.5	+	15	1919				NCSTN_ENST00000392212.4_Intron|NCSTN_ENST00000368063.1_Intron|NCSTN_ENST00000368065.4_Intron|NCSTN_ENST00000535857.1_Intron	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTGGGTGTTGAAAAGCCTGG	0.507																																																	0																																										SO:0001627	intron_variant	23385			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1794+136G>C	1.37:g.160326680G>C			Q5T207|Q5T208|Q86VV5	RNA	SNP	-	NULL	ENST00000294785.5	37	NULL	CCDS1203.1	1																																																																																			NCSTN	-	-		0.507	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	G	NM_015331		160326680	+1	no_errors	ENST00000491390	ensembl	human	known	70_37	rna	SNP	0.000	C
NDST2	8509	genome.wustl.edu	37	10	75568002	75568002	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:75568002G>A	ENST00000309979.6	-	3	701	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	NDST2_ENST00000398701.2_5'Flank|NDST2_ENST00000299641.4_Intron|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.P49S			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	49	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.P49S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AAGGGCAGGGGCAAGGGTTCC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											21.0	21.0	21.0					10																	75568002		2201	4300	6501	SO:0001583	missense	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.145C>T	10.37:g.75568002G>A	ENSP00000310657:p.Pro49Ser		Q2TB32|Q59H89	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.P49S	ENST00000309979.6	37	c.145	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474146	0.43942	.	.	ENSG00000166507	ENST00000309979	T	0.34472	1.36	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	N	0.11673	0.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.36432	-0.9748	10	0.18710	T	0.47	.	19.1253	0.93380	0.0:0.0:1.0:0.0	.	49	P52849	NDST2_HUMAN	S	49	ENSP00000310657:P49S	ENSP00000310657:P49S	P	-	1	0	NDST2	75238008	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.411000	0.80078	2.518000	0.84900	0.561000	0.74099	CCC	NDST2	-	pfam_Heparan_SO4_deacetylase		0.647	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	G	NM_003635		75568002	-1	no_errors	ENST00000309979	ensembl	human	known	70_37	missense	SNP	1.000	A
NDST3	9348	genome.wustl.edu	37	4	119161697	119161697	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:119161697G>C	ENST00000296499.5	+	11	2540	c.2137G>C	c.(2137-2139)Gac>Cac	p.D713H		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	713	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.D713H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATCACATGAAGACCCTGCAGC	0.453																																																	1	Substitution - Missense(1)	cervix(1)											68.0	65.0	66.0					4																	119161697		2203	4300	6503	SO:0001583	missense	9348			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2137G>C	4.37:g.119161697G>C	ENSP00000296499:p.Asp713His		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.D713H	ENST00000296499.5	37	c.2137	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200824	0.58234	.	.	ENSG00000164100	ENST00000296499	D	0.82619	-1.63	5.73	4.89	0.63831	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89462	0.6722	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90175	0.4238	10	0.59425	D	0.04	.	15.0058	0.71510	0.0683:0.0:0.9317:0.0	.	713	O95803	NDST3_HUMAN	H	713	ENSP00000296499:D713H	ENSP00000296499:D713H	D	+	1	0	NDST3	119381145	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	7.472000	0.80996	1.559000	0.49555	0.655000	0.94253	GAC	NDST3	-	pfam_Sulfotransferase_dom		0.453	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	G	NM_004784		119161697	+1	no_errors	ENST00000296499	ensembl	human	known	70_37	missense	SNP	1.000	C
NDUFA5	4698	genome.wustl.edu	37	7	123182233	123182233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:123182233delC	ENST00000355749.2	-	5	750	c.291delG	c.(289-291)tggfs	p.W97fs	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000471770.1_Frame_Shift_Del_p.W97fs	NM_001282419.1|NM_005000.2	NP_001269348.1|NP_004991.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	97					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)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|urinary_tract(1)	2						CCCATAGTTTCCATTCCCTCA	0.358																																																	0													101.0	97.0	99.0					7																	123182233		2203	4300	6503	SO:0001589	frameshift_variant	4698				CCDS5788.1, CCDS64760.1, CCDS75655.1, CCDS75656.1	7q31.33	2013-06-19	2013-06-19		ENSG00000128609	ENSG00000128609		"""Mitochondrial respiratory chain complex / Complex I"""	7688	protein-coding gene	gene with protein product	"""complex I 13kDa subunit B"", ""ubiquinone reductase"", ""type I dehydrogenase"", ""NADH-ubiquinone oxidoreductase 13 kDa-B subunit"""	601677	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"""			9763677, 9021153	Standard	XM_005250371		Approved	B13, NUFM, CI-13KD-B, UQOR13, CI-13kB	uc003vks.3	Q16718	OTTHUMG00000157348	ENST00000355749.2:c.291delG	7.37:g.123182233delC	ENSP00000347988:p.Trp97fs		B2RD98|Q5H9R2|Q6IRX7	Frame_Shift_Del	DEL	pfam_ETC_CI_29_9	p.W97fs	ENST00000355749.2	37	c.291	CCDS5788.1	7																																																																																			NDUFA5	-	NULL		0.358	NDUFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA5	HGNC	protein_coding	OTTHUMT00000348533.1	C	NM_005000		123182233	-1	no_errors	ENST00000355749	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
NDUFB2	4708	genome.wustl.edu	37	7	140404746	140404746	+	3'UTR	SNP	C	C	G	rs79658946	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:140404746C>G	ENST00000476279.1	+	0	404				NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000482954.1_3'UTR|NDUFB2_ENST00000247866.4_3'UTR|NDUFB2_ENST00000472695.1_3'UTR|NDUFB2_ENST00000476470.1_3'UTR|NDUFB2_ENST00000460088.1_3'UTR|NDUFB2_ENST00000204307.5_3'UTR|NDUFB2_ENST00000465506.1_3'UTR|NDUFB2_ENST00000475276.1_3'UTR|NDUFB2_ENST00000471136.1_3'UTR			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa						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)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					GGTGTAGACTCAGCCTCACTC	0.413																																																	0													105.0	101.0	102.0					7																	140404746		2203	4300	6503	SO:0001624	3_prime_UTR_variant	4708			AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"""Mitochondrial respiratory chain complex / Complex I"""	7697	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit"""	603838	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"""			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424	ENST00000476279.1:c.*12C>G	7.37:g.140404746C>G			Q6FGI6	RNA	SNP	-	NULL	ENST00000476279.1	37	NULL	CCDS5862.1	7																																																																																			NDUFB2	-	-		0.413	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NDUFB2	HGNC	protein_coding	OTTHUMT00000348784.1	C	NM_004546		140404746	+1	no_errors	ENST00000464564	ensembl	human	known	70_37	rna	SNP	0.006	G
NEK4	6787	genome.wustl.edu	37	3	52785972	52785972	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:52785972G>C	ENST00000233027.5	-	7	1546	c.1344C>G	c.(1342-1344)atC>atG	p.I448M	NEK4_ENST00000383721.4_Missense_Mutation_p.I448M|NEK4_ENST00000535191.1_Missense_Mutation_p.I359M	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	448					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)	p.I448M(1)		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)		TTTGTTCTTTGATTAGGGGCT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											126.0	128.0	127.0					3																	52785972		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.1344C>G	3.37:g.52785972G>C	ENSP00000233027:p.Ile448Met		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.I448M	ENST00000233027.5	37	c.1344	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	G	7.461	0.644587	0.14451	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.72615	-0.6;-0.67;-0.59;-0.67	4.97	3.12	0.35913	.	1.310530	0.04827	N	0.438013	T	0.46737	0.1408	N	0.08118	0	0.18873	N	0.999987	P;B;B	0.48162	0.906;0.37;0.254	B;B;B	0.38056	0.264;0.252;0.128	T	0.45264	-0.9273	10	0.31617	T	0.26	.	3.6807	0.08309	0.2079:0.0:0.5948:0.1973	.	359;448;448	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	M	448;359;448;359	ENSP00000233027:I448M;ENSP00000437703:I359M;ENSP00000373227:I448M;ENSP00000419666:I359M	ENSP00000233027:I448M	I	-	3	3	NEK4	52761012	0.118000	0.22208	0.829000	0.32907	0.342000	0.28953	0.346000	0.19997	1.206000	0.43276	0.655000	0.94253	ATC	NEK4	-	NULL		0.458	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	G	NM_003157		52785972	-1	no_errors	ENST00000233027	ensembl	human	known	70_37	missense	SNP	0.533	C
NEK5	341676	genome.wustl.edu	37	13	52657447	52657447	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:52657447C>G	ENST00000355568.4	-	17	1660	c.1521G>C	c.(1519-1521)aaG>aaC	p.K507N		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	507					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.K564N(1)|p.K507N(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GCAGGTTACTCTTCTTCACCA	0.423																																																	2	Substitution - Missense(2)	cervix(2)											223.0	185.0	198.0					13																	52657447		2203	4300	6503	SO:0001583	missense	341676			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1521G>C	13.37:g.52657447C>G	ENSP00000347767:p.Lys507Asn		Q5TAP5	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.K507N	ENST00000355568.4	37	c.1521	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	C	9.704	1.155286	0.21454	.	.	ENSG00000197168	ENST00000355568	T	0.72505	-0.66	5.63	2.67	0.31697	.	0.117464	0.36200	N	0.002736	T	0.63390	0.2507	L	0.54323	1.7	0.23391	N	0.997771	P	0.43750	0.816	B	0.42282	0.382	T	0.56463	-0.7975	10	0.54805	T	0.06	.	6.9601	0.24593	0.0:0.6665:0.0:0.3335	.	507	Q6P3R8	NEK5_HUMAN	N	507	ENSP00000347767:K507N	ENSP00000347767:K507N	K	-	3	2	NEK5	51555448	0.929000	0.31497	0.783000	0.31826	0.074000	0.17049	0.910000	0.28571	0.206000	0.20587	0.455000	0.32223	AAG	NEK5	-	NULL		0.423	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	C	NM_199289		52657447	-1	no_errors	ENST00000355568	ensembl	human	known	70_37	missense	SNP	0.854	G
NEK5	341676	genome.wustl.edu	37	13	52667254	52667254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:52667254G>A	ENST00000355568.4	-	13	1283	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	382					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q382*(1)|p.Q439*(1)|p.Q439E(1)|p.Q382E(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GTATTTTCTTGAGGAATAGGG	0.418																																																	4	Substitution - Missense(2)|Substitution - Nonsense(2)	urinary_tract(2)|cervix(2)											176.0	147.0	157.0					13																	52667254		2203	4300	6503	SO:0001587	stop_gained	341676			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1144C>T	13.37:g.52667254G>A	ENSP00000347767:p.Gln382*		Q5TAP5	Nonsense_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.Q382*	ENST00000355568.4	37	c.1144	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783663	0.70222	.	.	ENSG00000197168	ENST00000355568	.	.	.	4.86	0.649	0.17806	.	0.983011	0.08246	N	0.975424	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	5.455	0.16586	0.1443:0.1224:0.6216:0.1116	.	.	.	.	X	382	.	ENSP00000347767:Q382X	Q	-	1	0	NEK5	51565255	0.992000	0.36948	0.050000	0.19076	0.006000	0.05464	2.191000	0.42640	0.119000	0.18210	-0.350000	0.07774	CAA	NEK5	-	NULL		0.418	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	G	NM_199289		52667254	-1	no_errors	ENST00000355568	ensembl	human	known	70_37	nonsense	SNP	0.105	A
NSMF	26012	genome.wustl.edu	37	9	140349726	140349726	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:140349726C>T	ENST00000371475.3	-	6	975	c.744G>A	c.(742-744)cgG>cgA	p.R248R	NSMF_ENST00000392812.4_Intron|NSMF_ENST00000265663.7_Silent_p.R246R|NSMF_ENST00000371468.1_5'Flank|NSMF_ENST00000484316.1_5'Flank|NSMF_ENST00000371474.3_Intron|NSMF_ENST00000437259.1_Intron|NSMF_ENST00000371482.1_5'Flank|NSMF_ENST00000541195.1_5'Flank|NSMF_ENST00000371473.3_Silent_p.R248R|NSMF_ENST00000339554.3_Silent_p.R45R|NSMF_ENST00000371472.2_Silent_p.R246R	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	248					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)	p.R246R(1)									TCTCCCGTTTCCGGCGCTTCC	0.657																																																	1	Substitution - coding silent(1)	cervix(1)											112.0	93.0	99.0					9																	140349726		2203	4300	6503	SO:0001819	synonymous_variant	26012				CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.744G>A	9.37:g.140349726C>T			Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Silent	SNP	NULL	p.R248	ENST00000371475.3	37	c.744	CCDS48069.1	9																																																																																			NELF	-	NULL		0.657	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NELF	HGNC	protein_coding		C	NM_015537		140349726	-1	no_errors	ENST00000371475	ensembl	human	known	70_37	silent	SNP	1.000	T
NEO1	4756	genome.wustl.edu	37	15	73562772	73562772	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:73562772C>T	ENST00000339362.5	+	19	3281	c.2834C>T	c.(2833-2835)gCc>gTc	p.A945V	NEO1_ENST00000558964.1_Missense_Mutation_p.A945V|NEO1_ENST00000560262.1_Missense_Mutation_p.A945V|NEO1_ENST00000261908.6_Missense_Mutation_p.A945V			Q92859	NEO1_HUMAN	neogenin 1	945	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A945V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGTATGACAGCCCATGGGACC	0.418																																																	1	Substitution - Missense(1)	cervix(1)											111.0	111.0	111.0					15																	73562772		2198	4297	6495	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2834C>T	15.37:g.73562772C>T	ENSP00000341198:p.Ala945Val		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A945V	ENST00000339362.5	37	c.2834	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439083	0.83885	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.48836	0.8;0.8	5.95	5.95	0.96441	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	N	0.21194	0.64	0.80722	D	1	D;P;P;D	0.89917	1.0;0.934;0.934;0.987	D;B;P;P	0.87578	0.998;0.387;0.613;0.592	T	0.42413	-0.9453	10	0.12430	T	0.62	-19.8562	20.3932	0.98965	0.0:1.0:0.0:0.0	.	945;945;667;945	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	V	945;667;945	ENSP00000341198:A945V;ENSP00000261908:A945V	ENSP00000261908:A945V	A	+	2	0	NEO1	71349825	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	GCC	NEO1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	C	NM_002499		73562772	+1	no_errors	ENST00000261908	ensembl	human	known	70_37	missense	SNP	1.000	T
NETO1	81832	genome.wustl.edu	37	18	70417733	70417733	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:70417733G>A	ENST00000327305.6	-	9	1762	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	NETO1_ENST00000299430.2_Missense_Mutation_p.R368C|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.R369C	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	369					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.R369C(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TACTTTTTACGAGGCTGTTTG	0.463																																																	1	Substitution - Missense(1)	cervix(1)											97.0	85.0	89.0					18																	70417733		2203	4300	6503	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1105C>T	18.37:g.70417733G>A	ENSP00000313088:p.Arg369Cys		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R369C	ENST00000327305.6	37	c.1105	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524171	0.85600	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.45668	0.89;0.89	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000009	T	0.65260	0.2674	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.67968	-0.5533	10	0.87932	D	0	-4.4528	19.1774	0.93607	0.0:0.0:1.0:0.0	.	368;369	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	C	369;368	ENSP00000313088:R369C;ENSP00000299430:R368C	ENSP00000299430:R368C	R	-	1	0	NETO1	68568713	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.689000	0.74562	2.594000	0.87642	0.455000	0.32223	CGT	NETO1	-	NULL		0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	G	NM_138999		70417733	-1	no_errors	ENST00000327305	ensembl	human	known	70_37	missense	SNP	1.000	A
NF2	4771	genome.wustl.edu	37	22	30077525	30077525	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:30077525C>G	ENST00000338641.4	+	15	2113	c.1672C>G	c.(1672-1674)Ctg>Gtg	p.L558V	NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.L529V|NF2_ENST00000397789.3_Missense_Mutation_p.L558V|NF2_ENST00000403999.3_Missense_Mutation_p.L558V|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000361166.4_Missense_Mutation_p.L558V|NF2_ENST00000353887.4_Missense_Mutation_p.L475V|NF2_ENST00000361452.4_Missense_Mutation_p.L517V|NF2_ENST00000361676.4_Missense_Mutation_p.L516V|NF2_ENST00000334961.7_Missense_Mutation_p.L475V	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	558					actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.L558V(2)|p.K525fs*18(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGAGACAGCTCTGGATATTCT	0.463			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	6	Unknown(3)|Substitution - Missense(2)|Deletion - Frameshift(1)	cervix(2)|large_intestine(1)|stomach(1)|soft_tissue(1)|central_nervous_system(1)											123.0	127.0	126.0					22																	30077525		2203	4300	6503	SO:0001583	missense	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1672C>G	22.37:g.30077525C>G	ENSP00000344666:p.Leu558Val		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain	p.L558V	ENST00000338641.4	37	c.1672	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494443	0.26774	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	6.03	-3.57	0.04612	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.062953	0.64402	D	0.000004	D	0.83589	0.5287	M	0.67397	2.05	0.80722	D	1	P;B;P;B;P;B;P;B	0.42409	0.779;0.259;0.743;0.304;0.47;0.342;0.619;0.342	P;B;B;P;P;B;B;B	0.53760	0.734;0.393;0.423;0.528;0.516;0.098;0.243;0.217	T	0.79531	-0.1765	9	.	.	.	.	10.0638	0.42290	0.192:0.581:0.0:0.2269	.	533;529;517;558;558;516;475;558	B7Z4B6;P35240-8;P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;.;.;MERL_HUMAN;.;.;.;.	V	558;529;517;533;558;475;475;558;516;558	ENSP00000344666:L558V;ENSP00000384029:L529V;ENSP00000354897:L517V;ENSP00000384797:L558V;ENSP00000335652:L475V;ENSP00000340626:L475V;ENSP00000380891:L558V;ENSP00000355183:L516V;ENSP00000354529:L558V	.	L	+	1	2	NF2	28407525	0.000000	0.05858	0.028000	0.17463	0.599000	0.36880	-0.270000	0.08584	-0.564000	0.06070	-0.793000	0.03317	CTG	NF2	-	pirsf_ERM,pfam_ERM_C,superfamily_Moesin		0.463	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3	C	NM_000268		30077525	+1	no_errors	ENST00000338641	ensembl	human	known	70_37	missense	SNP	0.108	G
NFATC3	4775	genome.wustl.edu	37	16	68156798	68156798	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:68156798C>G	ENST00000346183.3	+	2	1036	c.1012C>G	c.(1012-1014)Ctc>Gtc	p.L338V	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.L338V|NFATC3_ENST00000349223.5_Missense_Mutation_p.L338V|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000329524.4_Missense_Mutation_p.L338V	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	338					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L338V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGACATCCCTCTCAAAACAAG	0.478																																																	2	Substitution - Missense(2)	cervix(2)											131.0	129.0	130.0					16																	68156798		2198	4300	6498	SO:0001583	missense	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1012C>G	16.37:g.68156798C>G	ENSP00000300659:p.Leu338Val		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.L338V	ENST00000346183.3	37	c.1012	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	C	8.472	0.857824	0.17178	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.08546	3.08;3.08;3.08	5.39	3.42	0.39159	.	0.192250	0.39475	N	0.001349	T	0.16727	0.0402	L	0.35723	1.085	0.38335	D	0.943897	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.74674	0.984;0.94;0.984;0.984	T	0.02909	-1.1095	9	.	.	.	-4.4018	11.1581	0.48499	0.0:0.8493:0.0:0.1507	.	338;338;338;338	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	V	338	ENSP00000264008:L338V;ENSP00000300659:L338V;ENSP00000331324:L338V	.	L	+	1	0	NFATC3	66714299	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.816000	0.38992	0.742000	0.32697	0.563000	0.77884	CTC	NFATC3	-	NULL		0.478	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	C	NM_004555		68156798	+1	no_errors	ENST00000346183	ensembl	human	known	70_37	missense	SNP	1.000	G
NFE2L1	4779	genome.wustl.edu	37	17	46135815	46135815	+	Silent	SNP	C	C	G	rs186077740		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:46135815C>G	ENST00000362042.3	+	6	1747	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	NFE2L1_ENST00000357480.5_Silent_p.L347L|NFE2L1_ENST00000361665.3_Silent_p.L366L|NFE2L1_ENST00000585291.1_Silent_p.L347L|NFE2L1_ENST00000582155.1_Silent_p.L189L|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000536222.1_Silent_p.L221L|NFE2L1_ENST00000583378.1_Silent_p.L178L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	377					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.L377L(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTTACTCTTCAGCCCCG	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											92.0	95.0	94.0					17																	46135815		2203	4300	6503	SO:0001819	synonymous_variant	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1131C>G	17.37:g.46135815C>G			D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L377	ENST00000362042.3	37	c.1131	CCDS11524.1	17																																																																																			NFE2L1	-	NULL		0.607	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	C	NM_003204		46135815	+1	no_errors	ENST00000362042	ensembl	human	known	70_37	silent	SNP	0.991	G
NFE2L2	4780	genome.wustl.edu	37	2	178095787	178095787	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:178095787C>G	ENST00000397062.3	-	5	2098	c.1544G>C	c.(1543-1545)aGa>aCa	p.R515T	NFE2L2_ENST00000464747.1_Missense_Mutation_p.R499T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R492T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R499T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	515	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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.R515T(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)			TTTTCTTTTTCTGCAATTCTG	0.338			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	1	Substitution - Missense(1)	cervix(1)											125.0	108.0	114.0					2																	178095787		1815	4078	5893	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.1544G>C	2.37:g.178095787C>G	ENSP00000380252:p.Arg515Thr		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.R515T	ENST00000397062.3	37	c.1544	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103748	0.76983	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	D;D;D;D	0.94931	-1.72;-1.72;-1.72;-3.56	5.95	5.95	0.96441	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.045600	0.85682	D	0.000000	D	0.98178	0.9398	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98510	1.0618	10	0.87932	D	0	-18.3165	20.3748	0.98911	0.0:1.0:0.0:0.0	.	492;515	E9PGJ7;Q16236	.;NF2L2_HUMAN	T	499;515;492;243	ENSP00000380253:R499T;ENSP00000380252:R515T;ENSP00000411575:R492T;ENSP00000391590:R243T	ENSP00000380252:R515T	R	-	2	0	NFE2L2	177804033	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	AGA	NFE2L2	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP		0.338	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178095787	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G
NFYA	4800	genome.wustl.edu	37	6	41060708	41060708	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:41060708G>A	ENST00000341376.6	+	8	973	c.772G>A	c.(772-774)Gag>Aag	p.E258K	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Missense_Mutation_p.E229K	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	258					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E258K(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACCTGGAGCAGAGATGCTTGA	0.488																																																	1	Substitution - Missense(1)	cervix(1)											113.0	106.0	108.0					6																	41060708		2203	4300	6503	SO:0001583	missense	4800				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.772G>A	6.37:g.41060708G>A	ENSP00000345702:p.Glu258Lys		Q8IXU0	Missense_Mutation	SNP	pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB	p.E258K	ENST00000341376.6	37	c.772	CCDS4849.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.170033	0.97343	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.988	D;P	0.64877	0.93;0.85	T	0.73094	-0.4091	9	0.62326	D	0.03	-11.9488	19.211	0.93755	0.0:0.0:1.0:0.0	.	229;258	P23511-2;P23511	.;NFYA_HUMAN	K	258;229	.	ENSP00000345702:E258K	E	+	1	0	NFYA	41168686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.760000	0.98935	2.789000	0.95967	0.655000	0.94253	GAG	NFYA	-	NULL		0.488	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYA	HGNC	protein_coding	OTTHUMT00000040496.1	G			41060708	+1	no_errors	ENST00000341376	ensembl	human	known	70_37	missense	SNP	1.000	A
NIN	51199	genome.wustl.edu	37	14	51192747	51192747	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:51192747C>T	ENST00000382041.3	-	30	6306	c.6116G>A	c.(6115-6117)cGa>cAa	p.R2039Q	NIN_ENST00000389868.3_3'UTR|RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000245441.5_Missense_Mutation_p.R2039Q|NIN_ENST00000530997.2_Missense_Mutation_p.R2039Q|NIN_ENST00000382043.4_Missense_Mutation_p.R1326Q|NIN_ENST00000324330.9_3'UTR	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2039					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.R2039Q(2)|p.R2045Q(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCTATCATTCGTTCCTCCAT	0.393			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	3	Substitution - Missense(3)	cervix(3)											180.0	158.0	166.0					14																	51192747		2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.6116G>A	14.37:g.51192747C>T	ENSP00000371472:p.Arg2039Gln		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.R2039Q	ENST00000382041.3	37	c.6116	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.238902	0.95240	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041	T;T;T	0.52295	1.31;0.67;1.19	5.93	5.93	0.95920	.	0.348191	0.25717	N	0.028777	T	0.66858	0.2832	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	T	0.60929	-0.7165	10	0.36615	T	0.2	-11.1353	19.3249	0.94258	0.0:1.0:0.0:0.0	.	2045;2039;1326;2039	Q8N4C6-5;Q8N4C6;Q5BKU3;Q8N4C6-7	.;NIN_HUMAN;.;.	Q	2039;2022;1326;2045;2039	ENSP00000245441:R2039Q;ENSP00000371474:R1326Q;ENSP00000371472:R2039Q	ENSP00000245441:R2039Q	R	-	2	0	NIN	50262497	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.174000	0.77620	2.805000	0.96524	0.655000	0.94253	CGA	NIN	-	NULL		0.393	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	C	NM_182946		51192747	-1	no_errors	ENST00000245441	ensembl	human	known	70_37	missense	SNP	1.000	T
NIPAL2	79815	genome.wustl.edu	37	8	99208193	99208193	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:99208193G>A	ENST00000341166.3	-	9	1176	c.921C>T	c.(919-921)ctC>ctT	p.L307L	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Silent_p.L307L	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	307						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.L307L(1)		cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						TAAATACAGTGAGAAAAGGAG	0.328																																																	1	Substitution - coding silent(1)	cervix(1)											51.0	53.0	52.0					8																	99208193		2203	4299	6502	SO:0001819	synonymous_variant	79815			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.921C>T	8.37:g.99208193G>A			A2RTY8	Silent	SNP	pfam_Mg_trans_NIPA	p.L307	ENST00000341166.3	37	c.921	CCDS6278.1	8																																																																																			NIPAL2	-	pfam_Mg_trans_NIPA		0.328	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	NIPAL2	HGNC	protein_coding	OTTHUMT00000379677.1	G	NM_024759		99208193	-1	no_errors	ENST00000341166	ensembl	human	known	70_37	silent	SNP	0.819	A
NIPAL2	79815	genome.wustl.edu	37	8	99264812	99264812	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:99264812G>A	ENST00000341166.3	-	3	510	c.255C>T	c.(253-255)ttC>ttT	p.F85F	NIPAL2_ENST00000520545.1_5'Flank|NIPAL2_ENST00000430223.2_Silent_p.F85F	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	85						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.F85F(2)		cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GCACACTCTTGAAGTATGGCC	0.493																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											104.0	85.0	91.0					8																	99264812		2203	4300	6503	SO:0001819	synonymous_variant	79815			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.255C>T	8.37:g.99264812G>A			A2RTY8	Silent	SNP	pfam_Mg_trans_NIPA	p.F85	ENST00000341166.3	37	c.255	CCDS6278.1	8																																																																																			NIPAL2	-	pfam_Mg_trans_NIPA		0.493	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	NIPAL2	HGNC	protein_coding	OTTHUMT00000379677.1	G	NM_024759		99264812	-1	no_errors	ENST00000341166	ensembl	human	known	70_37	silent	SNP	1.000	A
NLGN4X	57502	genome.wustl.edu	37	X	5821162	5821162	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:5821162G>A	ENST00000381095.3	-	5	2184	c.1557C>T	c.(1555-1557)ctC>ctT	p.L519L	NLGN4X_ENST00000381092.1_Silent_p.L519L|NLGN4X_ENST00000275857.6_Silent_p.L519L|NLGN4X_ENST00000538097.1_Silent_p.L519L|NLGN4X_ENST00000381093.2_Silent_p.L539L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	519					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.L519L(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCACGGCGCTGAGCATGACGT	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											133.0	103.0	113.0					X																	5821162		2203	4300	6503	SO:0001819	synonymous_variant	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1557C>T	X.37:g.5821162G>A			Q6UX10|Q9ULG0	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.L539	ENST00000381095.3	37	c.1617	CCDS14126.1	X																																																																																			NLGN4X	-	pfam_CarbesteraseB		0.522	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		5821162	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	silent	SNP	0.990	A
NLGN4X	57502	genome.wustl.edu	37	X	6069406	6069406	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:6069406G>C	ENST00000381095.3	-	2	729	c.102C>G	c.(100-102)atC>atG	p.I34M	NLGN4X_ENST00000381092.1_Missense_Mutation_p.I34M|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Missense_Mutation_p.I34M|NLGN4X_ENST00000538097.1_Missense_Mutation_p.I34M|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I34M	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	34					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.I34M(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGTGAACTTGATGGCAAGAG	0.498																																																	1	Substitution - Missense(1)	cervix(1)											126.0	98.0	108.0					X																	6069406		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.102C>G	X.37:g.6069406G>C	ENSP00000370485:p.Ile34Met		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.I34M	ENST00000381095.3	37	c.102	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	2.510	-0.313257	0.05422	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.07	1.47	0.22746	Carboxylesterase, type B (1);	.	.	.	.	T	0.58779	0.2146	L	0.36672	1.1	0.09310	N	1	B;B;B	0.29508	0.135;0.246;0.207	B;B;B	0.41619	0.361;0.285;0.188	T	0.53272	-0.8462	9	0.33940	T	0.23	.	5.0113	0.14313	0.157:0.0:0.5151:0.3279	.	34;34;34	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	M	34	ENSP00000370485:I34M;ENSP00000370483:I34M;ENSP00000275857:I34M;ENSP00000370482:I34M;ENSP00000439203:I34M	ENSP00000275857:I34M	I	-	3	3	NLGN4X	6079406	0.973000	0.33851	0.015000	0.15790	0.632000	0.37999	1.364000	0.34171	0.399000	0.25367	0.513000	0.50165	ATC	NLGN4X	-	pfam_CarbesteraseB		0.498	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		6069406	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	missense	SNP	0.004	C
NLRP7	199713	genome.wustl.edu	37	19	55451669	55451669	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:55451669G>A	ENST00000590030.1	-	3	558	c.518C>T	c.(517-519)aCg>aTg	p.T173M	NLRP7_ENST00000448121.2_Missense_Mutation_p.T173M|NLRP7_ENST00000588756.1_Missense_Mutation_p.T173M|NLRP7_ENST00000446217.1_Missense_Mutation_p.T201M|NLRP7_ENST00000328092.5_Missense_Mutation_p.T173M|NLRP7_ENST00000592784.1_Missense_Mutation_p.T173M|NLRP7_ENST00000340844.2_Missense_Mutation_p.T173M			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	173	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.T173M(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAGCACCACCGTGTAAGGTGT	0.537																																																	2	Substitution - Missense(2)	cervix(2)											134.0	142.0	139.0					19																	55451669		2203	4300	6503	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.518C>T	19.37:g.55451669G>A	ENSP00000465520:p.Thr173Met		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T201M	ENST00000590030.1	37	c.602	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614192	0.46631	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	1.83	1.83	0.25207	NACHT nucleoside triphosphatase (1);	0.252992	0.20873	N	0.084127	D	0.88127	0.6353	M	0.84082	2.675	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.991	T	0.77739	-0.2475	10	0.87932	D	0	.	9.7452	0.40442	0.0:0.0:1.0:0.0	.	201;173;173;173	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	M	173;173;173;201	ENSP00000329568:T173M;ENSP00000409137:T173M;ENSP00000339491:T173M;ENSP00000414273:T201M	ENSP00000329568:T173M	T	-	2	0	NLRP7	60143481	0.053000	0.20554	0.005000	0.12908	0.011000	0.07611	1.488000	0.35551	1.355000	0.45865	0.449000	0.29647	ACG	NLRP7	-	pfscan_NACHT_NTPase		0.537	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	G	NM_139176		55451669	-1	no_errors	ENST00000446217	ensembl	human	known	70_37	missense	SNP	0.056	A
NLRP9	338321	genome.wustl.edu	37	19	56223837	56223837	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:56223837C>T	ENST00000332836.2	-	7	2648	c.2621G>A	c.(2620-2622)aGa>aAa	p.R874K	CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	874						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R874K(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACATAACTGTCTGACACCAGT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											102.0	97.0	98.0					19																	56223837		2201	4294	6495	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2621G>A	19.37:g.56223837C>T	ENSP00000331857:p.Arg874Lys		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R874K	ENST00000332836.2	37	c.2621	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	0.281	-0.986279	0.02180	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.43688	0.94	4.0	-2.2	0.06994	.	.	.	.	.	T	0.13286	0.0322	N	0.01751	-0.74	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.32981	-0.9886	9	0.02654	T	1	.	9.351	0.38138	0.0:0.5379:0.0:0.4621	.	874	Q7RTR0	NALP9_HUMAN	K	874	ENSP00000331857:R874K	ENSP00000331857:R874K	R	-	2	0	NLRP9	60915649	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.004000	0.12878	-0.672000	0.05266	-0.356000	0.07607	AGA	NLRP9	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	C	NM_176820		56223837	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	missense	SNP	0.000	T
NLRX1	79671	genome.wustl.edu	37	11	119053983	119053983	+	Silent	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:119053983C>A	ENST00000409109.1	+	10	3350	c.2763C>A	c.(2761-2763)ctC>ctA	p.L921L	NLRX1_ENST00000292199.2_Silent_p.L921L|PDZD3_ENST00000322712.4_5'Flank|PDZD3_ENST00000392817.2_5'Flank|NLRX1_ENST00000409991.1_Silent_p.L921L|NLRX1_ENST00000409265.4_Intron|PDZD3_ENST00000525131.1_5'Flank|PDZD3_ENST00000531114.1_5'Flank|NLRX1_ENST00000525863.1_Intron|PDZD3_ENST00000355547.5_5'Flank	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	921	LRRCT.|Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.L921L(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGCGGAACCTCAATAGCTGGG	0.612																																																	1	Substitution - coding silent(1)	cervix(1)											101.0	95.0	97.0					11																	119053983		2200	4295	6495	SO:0001819	synonymous_variant	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2763C>A	11.37:g.119053983C>A			A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L921	ENST00000409109.1	37	c.2763	CCDS8416.1	11																																																																																			NLRX1	-	NULL		0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	C	NM_170722		119053983	+1	no_errors	ENST00000292199	ensembl	human	known	70_37	silent	SNP	0.967	A
NOD2	64127	genome.wustl.edu	37	16	50745680	50745680	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:50745680G>A	ENST00000300589.2	+	4	1963	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	620					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)	p.D620N(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTCAGTGCTGATGTGCCACC	0.587																																																	1	Substitution - Missense(1)	cervix(1)											87.0	69.0	75.0					16																	50745680		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.1858G>A	16.37:g.50745680G>A	ENSP00000300589:p.Asp620Asn		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.D620N	ENST00000300589.2	37	c.1858	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	G	1.917	-0.449400	0.04572	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.70045	-0.45	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000003	T	0.72447	0.3461	L	0.47190	1.495	0.31417	N	0.674757	D;P;D	0.89917	1.0;0.804;1.0	D;B;D	0.85130	0.997;0.325;0.997	T	0.69540	-0.5118	10	0.18710	T	0.47	.	9.9908	0.41870	0.0924:0.0:0.9076:0.0	.	404;593;620	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	N	593;620	ENSP00000300589:D620N	ENSP00000300589:D620N	D	+	1	0	NOD2	49303181	0.978000	0.34361	0.056000	0.19401	0.008000	0.06430	2.954000	0.49113	2.484000	0.83849	0.561000	0.74099	GAT	NOD2	-	NULL		0.587	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	G	NM_022162		50745680	+1	no_errors	ENST00000300589	ensembl	human	known	70_37	missense	SNP	0.492	A
NOB1	28987	genome.wustl.edu	37	16	69776286	69776286	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:69776286C>G	ENST00000268802.5	-	9	1217	c.1188G>C	c.(1186-1188)cgG>cgC	p.R396R	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	396					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R396R(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTAAGCGTCTCCGCCCAGCTC	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											48.0	48.0	48.0					16																	69776286		2198	4300	6498	SO:0001819	synonymous_variant	28987			AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.1188G>C	16.37:g.69776286C>G			Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	pfam_NOB1_Zn-bd,smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease	p.R396	ENST00000268802.5	37	c.1188	CCDS10884.1	16																																																																																			NOB1	-	pirsf_D-site_20S_pre-rRNA_nuclease		0.587	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOB1	HGNC	protein_coding	OTTHUMT00000268958.2	C	NM_014062		69776286	-1	no_errors	ENST00000268802	ensembl	human	known	70_37	silent	SNP	0.983	G
NOLC1	9221	genome.wustl.edu	37	10	103916809	103916809	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:103916809G>C	ENST00000605788.1	+	2	389	c.154G>C	c.(154-156)Gac>Cac	p.D52H	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.D52H|NOLC1_ENST00000405356.1_Missense_Mutation_p.D52H	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	52					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.D52H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TTCCCTCTTAGACATCTATAG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											251.0	244.0	246.0					10																	103916809		2203	4300	6503	SO:0001583	missense	9221			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.154G>C	10.37:g.103916809G>C	ENSP00000474710:p.Asp52His		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	pfam_SRP40_C,pfscan_LisH_dimerisation	p.D52H	ENST00000605788.1	37	c.154	CCDS7530.1	10	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370959	0.61624	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.49720	0.77	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	M	0.78049	2.395	0.52099	D	0.999943	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.987;0.97	T	0.72839	-0.4171	10	0.87932	D	0	-21.286	17.4807	0.87672	0.0:0.0:1.0:0.0	.	52;52;52	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	H	52	ENSP00000385410:D52H	ENSP00000359024:D52H	D	+	1	0	NOLC1	103906799	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.690000	0.68241	2.818000	0.97014	0.655000	0.94253	GAC	NOLC1	-	NULL		0.433	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	HGNC	protein_coding	OTTHUMT00000050012.2	G	NM_004741		103916809	+1	no_errors	ENST00000405356	ensembl	human	known	70_37	missense	SNP	1.000	C
NOP58	51602	genome.wustl.edu	37	2	203147126	203147126	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:203147126G>A	ENST00000264279.5	+	4	454	c.228G>A	c.(226-228)ctG>ctA	p.L76L	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	76					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.L76L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AAAAAGTTCTGAAGAAAATAG	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											80.0	83.0	82.0					2																	203147126		2203	4300	6503	SO:0001819	synonymous_variant	51602				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.228G>A	2.37:g.203147126G>A			Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.L76	ENST00000264279.5	37	c.228	CCDS2353.1	2																																																																																			NOP58	-	NULL		0.378	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	G	NM_015934		203147126	+1	no_errors	ENST00000264279	ensembl	human	known	70_37	silent	SNP	0.944	A
NOS2	4843	genome.wustl.edu	37	17	26108115	26108115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:26108115G>A	ENST00000313735.6	-	8	1044	c.811C>T	c.(811-813)Cag>Tag	p.Q271*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	271					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.Q271*(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TCTGGCATCTGGTAGCCAGCA	0.642																																																	1	Substitution - Nonsense(1)	cervix(1)											85.0	74.0	77.0					17																	26108115		2203	4300	6503	SO:0001587	stop_gained	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.811C>T	17.37:g.26108115G>A	ENSP00000327251:p.Gln271*		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Nonsense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.Q271*	ENST00000313735.6	37	c.811	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.256919	0.97417	.	.	ENSG00000007171	ENST00000313735;ENST00000302153	.	.	.	5.56	3.55	0.40652	.	0.220688	0.37623	N	0.002020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0121	0.41992	0.0749:0.14:0.7852:0.0	.	.	.	.	X	271	.	ENSP00000305638:Q271X	Q	-	1	0	NOS2	23132242	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	4.363000	0.59473	1.324000	0.45282	-0.176000	0.13171	CAG	NOS2	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met		0.642	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	G	NM_000625		26108115	-1	no_errors	ENST00000313735	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NOSIP	51070	genome.wustl.edu	37	19	50059841	50059841	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50059841C>G	ENST00000596358.1	-	7	748	c.690G>C	c.(688-690)ctG>ctC	p.L230L	NOSIP_ENST00000391853.3_Silent_p.L230L|NOSIP_ENST00000339093.3_Silent_p.L233L	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	230					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L230L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TGGCGTTGCTCAGGCTGTCGC	0.701																																																	1	Substitution - coding silent(1)	cervix(1)											35.0	34.0	35.0					19																	50059841		2203	4299	6502	SO:0001819	synonymous_variant	51070			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.690G>C	19.37:g.50059841C>G			Q96FD2	Silent	SNP	pirsf_Nitric_oxide_synth-interacting	p.L230	ENST00000596358.1	37	c.690	CCDS12772.1	19																																																																																			NOSIP	-	pirsf_Nitric_oxide_synth-interacting		0.701	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOSIP	HGNC	protein_coding	OTTHUMT00000465423.1	C			50059841	-1	no_errors	ENST00000391853	ensembl	human	known	70_37	silent	SNP	1.000	G
NOTCH1	4851	genome.wustl.edu	37	9	139397773	139397773	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:139397773G>A	ENST00000277541.6	-	27	5103	c.5028C>T	c.(5026-5028)gtC>gtT	p.V1676V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1676					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V1676V(1)|p.Y1678del(1)|p.V1677V(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTCCAGGTAGACGATGGAGC	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	3	Substitution - coding silent(2)|Deletion - In frame(1)	cervix(2)|haematopoietic_and_lymphoid_tissue(1)											56.0	66.0	63.0					9																	139397773		2149	4259	6408	SO:0001819	synonymous_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5028C>T	9.37:g.139397773G>A			Q59ED8|Q5SXM3	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.V1676	ENST00000277541.6	37	c.5028	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_Notch_NODP_dom,pirsf_Notch		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	G	NM_017617		139397773	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	silent	SNP	0.972	A
NOTCH1	4851	genome.wustl.edu	37	9	139418380	139418380	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:139418380G>A	ENST00000277541.6	-	3	267	c.192C>T	c.(190-192)ctC>ctT	p.L64L	NOTCH1_ENST00000491649.1_5'Flank	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	64	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L64L(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGGGGTGCTGAGGCACGGGT	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	2	Substitution - coding silent(2)	cervix(2)											15.0	20.0	18.0					9																	139418380		2069	4180	6249	SO:0001819	synonymous_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.192C>T	9.37:g.139418380G>A			Q59ED8|Q5SXM3	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.L64	ENST00000277541.6	37	c.192	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	G	NM_017617		139418380	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	silent	SNP	0.997	A
NOTCH2	4853	genome.wustl.edu	37	1	120458064	120458064	+	Missense_Mutation	SNP	A	A	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:120458064A>C	ENST00000256646.2	-	34	7500	c.7281T>G	c.(7279-7281)agT>agG	p.S2427R		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2427	Poly-Ser.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.S2427R(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTGATGAACTTGACCACT	0.597			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	cervix(1)											109.0	103.0	105.0					1																	120458064		2203	4300	6503	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.7281T>G	1.37:g.120458064A>C	ENSP00000256646:p.Ser2427Arg		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.S2427R	ENST00000256646.2	37	c.7281	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429982	0.62844	.	.	ENSG00000134250	ENST00000256646	D	0.83163	-1.69	5.66	-3.16	0.05217	Domain of unknown function DUF3454, notch (1);	0.325968	0.21712	U	0.070253	D	0.87426	0.6174	M	0.80332	2.49	0.43444	D	0.995623	D	0.89917	1.0	D	0.77557	0.99	D	0.89673	0.3885	10	0.87932	D	0	.	16.2816	0.82692	0.2055:0.0:0.7945:0.0	.	2427	Q04721	NOTC2_HUMAN	R	2427	ENSP00000256646:S2427R	ENSP00000256646:S2427R	S	-	3	2	NOTCH2	120259587	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	0.984000	0.29565	-0.284000	0.09102	0.533000	0.62120	AGT	NOTCH2	-	pirsf_Notch,pfam_DUF3454_notch		0.597	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	A	NM_024408		120458064	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	0.994	C
NOX3	50508	genome.wustl.edu	37	6	155750143	155750143	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:155750143C>T	ENST00000159060.2	-	9	1032	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	310	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.M310I(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CACGCTTTTTCATGTGAAGTT	0.502																																																	1	Substitution - Missense(1)	cervix(1)											98.0	98.0	98.0					6																	155750143		2203	4300	6503	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.930G>A	6.37:g.155750143C>T	ENSP00000159060:p.Met310Ile		Q9HBJ9	Missense_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.M310I	ENST00000159060.2	37	c.930	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731293	0.89390	.	.	ENSG00000074771	ENST00000159060	T	0.11821	2.74	5.68	5.68	0.88126	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	L	0.54965	1.715	0.58432	D	0.999997	D	0.57571	0.98	P	0.49752	0.621	T	0.00867	-1.1534	10	0.35671	T	0.21	-33.7709	19.7782	0.96405	0.0:1.0:0.0:0.0	.	310	Q9HBY0	NOX3_HUMAN	I	310	ENSP00000159060:M310I	ENSP00000159060:M310I	M	-	3	0	NOX3	155791835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.397000	0.79903	2.676000	0.91093	0.563000	0.77884	ATG	NOX3	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.502	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	C			155750143	-1	no_errors	ENST00000159060	ensembl	human	known	70_37	missense	SNP	1.000	T
NPHS1	4868	genome.wustl.edu	37	19	36330458	36330458	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:36330458G>A	ENST00000378910.5	-	21	2866	c.2867C>T	c.(2866-2868)tCc>tTc	p.S956F	NPHS1_ENST00000353632.6_Missense_Mutation_p.S956F	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	956	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.S956F(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCCCACGGAGTGTGGGGT	0.567																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|cervix(1)											65.0	67.0	66.0					19																	36330458		2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2867C>T	19.37:g.36330458G>A	ENSP00000368190:p.Ser956Phe		A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,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.S956F	ENST00000378910.5	37	c.2867	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691310	0.48097	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.63417	-0.04;-0.04	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81950	0.4931	M	0.86651	2.83	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.85244	0.1040	10	0.87932	D	0	-12.1393	16.4567	0.84019	0.0:0.0:1.0:0.0	.	956	O60500	NPHN_HUMAN	F	956	ENSP00000368190:S956F;ENSP00000343634:S956F	ENSP00000343634:S956F	S	-	2	0	NPHS1	41022298	1.000000	0.71417	0.224000	0.23877	0.020000	0.10135	4.282000	0.58971	2.496000	0.84212	0.585000	0.79938	TCC	NPHS1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	G			36330458	-1	no_errors	ENST00000378910	ensembl	human	known	70_37	missense	SNP	0.995	A
NPY1R	4886	genome.wustl.edu	37	4	164246583	164246583	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:164246583G>A	ENST00000296533.2	-	3	1558	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	NPY1R_ENST00000509586.1_Missense_Mutation_p.R100W	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.R343W(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCATCATCCCGAGACCGGAAA	0.393																																																	1	Substitution - Missense(1)	cervix(1)											138.0	145.0	142.0					4																	164246583		2203	4300	6503	SO:0001583	missense	4886				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1027C>T	4.37:g.164246583G>A	ENSP00000354652:p.Arg343Trp		B2R6H5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R343W	ENST00000296533.2	37	c.1027	CCDS34089.1	4	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877161	0.51801	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.38722	1.12;1.12	5.48	5.48	0.80851	.	0.258733	0.30859	N	0.008736	T	0.53384	0.1793	L	0.42245	1.32	0.46954	D	0.999269	D	0.89917	1.0	D	0.64144	0.922	T	0.54490	-0.8286	10	0.72032	D	0.01	.	12.9417	0.58348	0.0:0.0:0.7166:0.2834	.	343	P25929	NPY1R_HUMAN	W	343;100	ENSP00000354652:R343W;ENSP00000427284:R100W	ENSP00000354652:R343W	R	-	1	2	NPY1R	164466033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.430000	0.44766	2.565000	0.86533	0.655000	0.94253	CGG	NPY1R	-	prints_NPY1_rcpt		0.393	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY1R	HGNC	protein_coding	OTTHUMT00000364685.1	G			164246583	-1	no_errors	ENST00000296533	ensembl	human	known	70_37	missense	SNP	0.998	A
NR2E1	7101	genome.wustl.edu	37	6	108497812	108497812	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:108497812C>T	ENST00000368986.4	+	4	1073	c.365C>T	c.(364-366)tCg>tTg	p.S122L	NR2E1_ENST00000368983.3_Missense_Mutation_p.S159L|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	122					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S122L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CACTTTCCCTCGGCGGCGCTC	0.711																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											21.0	23.0	22.0					6																	108497812		2202	4296	6498	SO:0001583	missense	7101			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.365C>T	6.37:g.108497812C>T	ENSP00000357982:p.Ser122Leu		Q6ZMP8	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,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S122L	ENST00000368986.4	37	c.365	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194267	0.58017	.	.	ENSG00000112333	ENST00000368986;ENST00000368983;ENST00000426403	T;T	0.53206	0.63;0.63	5.76	5.76	0.90799	Nuclear hormone receptor, ligand-binding (1);	0.280655	0.41605	D	0.000857	T	0.26593	0.0650	L	0.29908	0.895	0.46376	D	0.999019	B	0.27700	0.186	B	0.19148	0.024	T	0.04635	-1.0937	10	0.44086	T	0.13	.	19.9625	0.97256	0.0:1.0:0.0:0.0	.	122	Q9Y466	NR2E1_HUMAN	L	122;159;40	ENSP00000357982:S122L;ENSP00000357979:S159L	ENSP00000357979:S159L	S	+	2	0	NR2E1	108604505	0.992000	0.36948	0.819000	0.32651	0.555000	0.35460	5.826000	0.69293	2.726000	0.93360	0.655000	0.94253	TCG	NR2E1	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.711	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	HGNC	protein_coding	OTTHUMT00000041712.2	C			108497812	+1	no_errors	ENST00000368986	ensembl	human	known	70_37	missense	SNP	0.726	T
NR5A2	2494	genome.wustl.edu	37	1	200012937	200012937	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:200012937G>A	ENST00000367362.3	+	3	484	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	NR5A2_ENST00000236914.3_Missense_Mutation_p.E34K|NR5A2_ENST00000544748.1_Missense_Mutation_p.E8K	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
NSDHL	50814	genome.wustl.edu	37	X	152031145	152031145	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:152031145C>G	ENST00000370274.3	+	5	614	c.420C>G	c.(418-420)ctC>ctG	p.L140L	NSDHL_ENST00000440023.1_Silent_p.L140L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	140					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)	p.L140L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GTCAGAAACTCATTTTAACCA	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											126.0	110.0	115.0					X																	152031145		2203	4300	6503	SO:0001819	synonymous_variant	50814			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.420C>G	X.37:g.152031145C>G			D3DWT6|O00344	Silent	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA	p.L140	ENST00000370274.3	37	c.420	CCDS14717.1	X																																																																																			NSDHL	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA		0.413	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSDHL	HGNC	protein_coding	OTTHUMT00000060927.1	C	NM_015922		152031145	+1	no_errors	ENST00000370274	ensembl	human	known	70_37	silent	SNP	1.000	G
POM121	9883	genome.wustl.edu	37	7	72419308	72419308	+	IGR	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:72419308C>G	ENST00000434423.2	+	0	3750				NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000395270.1_3'UTR			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin						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)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.L187L(1)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGAACGTGCTCAGGCCTCGGT	0.647																																																	1	Substitution - coding silent(1)	cervix(1)											21.0	23.0	22.0					7																	72419308		2200	4274	6474	SO:0001628	intergenic_variant	260294			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527		7.37:g.72419308C>G			A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	RNA	SNP	-	NULL	ENST00000434423.2	37	NULL		7																																																																																			NSUN5P2	-	-		0.647	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	NSUN5P2	HGNC	protein_coding	OTTHUMT00000347344.1	C			72419308	-1	no_errors	ENST00000388955	ensembl	human	known	70_37	rna	SNP	0.011	G
NT5C2	22978	genome.wustl.edu	37	10	104859772	104859772	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:104859772C>T	ENST00000404739.3	-	7	567	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	NT5C2_ENST00000343289.5_Missense_Mutation_p.E182K|NT5C2_ENST00000423468.2_Missense_Mutation_p.E153K|NT5C2_ENST00000369857.4_5'UTR			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	182					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)	p.E182K(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AATCCTGTTTCACAACTACAG	0.398																																																	1	Substitution - Missense(1)	cervix(1)											91.0	87.0	89.0					10																	104859772		2203	4300	6503	SO:0001583	missense	22978			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.544G>A	10.37:g.104859772C>T	ENSP00000383960:p.Glu182Lys		B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E182K	ENST00000404739.3	37	c.544	CCDS7544.1	10	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922643	0.33908	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	T;T;T;T;T	0.31247	2.24;2.24;1.92;2.26;1.5	5.91	5.01	0.66863	HAD-like domain (1);	0.186478	0.56097	N	0.000030	T	0.21921	0.0528	L	0.27053	0.805	0.58432	D	0.999996	B;B;B	0.30634	0.21;0.288;0.21	B;B;B	0.30495	0.101;0.116;0.101	T	0.03597	-1.1021	10	0.12103	T	0.63	-6.9246	15.0087	0.71533	0.0:0.9318:0.0:0.0682	.	153;29;182	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	K	182;182;153;190;113;138	ENSP00000339479:E182K;ENSP00000383960:E182K;ENSP00000392236:E153K;ENSP00000396468:E190K;ENSP00000411330:E113K	ENSP00000339479:E182K	E	-	1	0	NT5C2	104849762	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.081000	0.71309	1.491000	0.48482	0.655000	0.94253	GAA	NT5C2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl		0.398	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C2	HGNC	protein_coding	OTTHUMT00000050121.1	C	NM_012229		104859772	-1	no_errors	ENST00000343289	ensembl	human	known	70_37	missense	SNP	1.000	T
NUAK1	9891	genome.wustl.edu	37	12	106460917	106460917	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:106460917G>A	ENST00000261402.2	-	7	3028	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	550					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.S550F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CTCTGACAGGGATTCCAGTGT	0.607																																																	2	Substitution - Missense(2)	cervix(2)											52.0	59.0	56.0					12																	106460917		2203	4300	6503	SO:0001583	missense	9891			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1649C>T	12.37:g.106460917G>A	ENSP00000261402:p.Ser550Phe		A7MD39|Q96KA8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S550F	ENST00000261402.2	37	c.1649	CCDS31892.1	12	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936093	0.73442	.	.	ENSG00000074590	ENST00000261402	T	0.73789	-0.78	5.53	5.53	0.82687	.	0.242039	0.29486	N	0.012005	T	0.80065	0.4555	L	0.55990	1.75	0.51767	D	0.999936	P	0.45474	0.859	P	0.50896	0.653	T	0.81475	-0.0916	10	0.72032	D	0.01	.	19.4552	0.94884	0.0:0.0:1.0:0.0	.	550	O60285	NUAK1_HUMAN	F	550	ENSP00000261402:S550F	ENSP00000261402:S550F	S	-	2	0	NUAK1	104985047	1.000000	0.71417	0.997000	0.53966	0.550000	0.35303	7.624000	0.83124	2.596000	0.87737	0.462000	0.41574	TCC	NUAK1	-	NULL		0.607	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	G	NM_014840		106460917	-1	no_errors	ENST00000261402	ensembl	human	known	70_37	missense	SNP	1.000	A
NUCB1	4924	genome.wustl.edu	37	19	49425609	49425609	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49425609G>C	ENST00000405315.4	+	13	1648	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	NUCB1_ENST00000407032.1_Missense_Mutation_p.Q438H|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000263273.5_Missense_Mutation_p.Q438H	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	438						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.Q438H(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		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;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCGGTGACCAGAAGGAGGTGG	0.607																																																	1	Substitution - Missense(1)	cervix(1)											127.0	118.0	121.0					19																	49425609		2203	4300	6503	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1314G>C	19.37:g.49425609G>C	ENSP00000385923:p.Gln438His		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.Q438H	ENST00000405315.4	37	c.1314	CCDS12740.1	19	.	.	.	.	.	.	.	.	.	.	g	12.22	1.871470	0.33069	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273	T;T;T	0.23147	1.92;1.92;1.92	3.39	-0.247	0.13019	.	0.912318	0.09332	N	0.816785	T	0.13586	0.0329	N	0.14661	0.345	0.30143	N	0.803755	B	0.14438	0.01	B	0.10450	0.005	T	0.25537	-1.0129	10	0.54805	T	0.06	.	5.131	0.14909	0.1249:0.4222:0.4529:0.0	.	438	Q02818	NUCB1_HUMAN	H	438	ENSP00000385923:Q438H;ENSP00000385211:Q438H;ENSP00000263273:Q438H	ENSP00000263273:Q438H	Q	+	3	2	NUCB1	54117421	1.000000	0.71417	0.982000	0.44146	0.270000	0.26580	0.335000	0.19806	0.052000	0.16007	0.306000	0.20318	CAG	NUCB1	-	NULL		0.607	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCB1	HGNC	protein_coding	OTTHUMT00000326545.2	G	NM_006184		49425609	+1	no_errors	ENST00000263273	ensembl	human	known	70_37	missense	SNP	0.994	C
NUDT14	256281	genome.wustl.edu	37	14	105643316	105643316	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:105643316C>T	ENST00000392568.2	-	3	267	c.174G>A	c.(172-174)gtG>gtA	p.V58V	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	58	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.V58V(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGAACTGCTTCACCAACACCA	0.607										HNSCC(42;0.11)																																							1	Substitution - coding silent(1)	cervix(1)											41.0	35.0	37.0					14																	105643316		2193	4289	6482	SO:0001819	synonymous_variant	256281			AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.174G>A	14.37:g.105643316C>T			Q86SJ8	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase	p.V58	ENST00000392568.2	37	c.174	CCDS10000.1	14																																																																																			NUDT14	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase		0.607	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT14	HGNC	protein_coding	OTTHUMT00000074544.4	C	NM_177533		105643316	-1	no_errors	ENST00000392568	ensembl	human	known	70_37	silent	SNP	0.999	T
NUP210L	91181	genome.wustl.edu	37	1	154000067	154000067	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:154000067C>G	ENST00000368559.3	-	29	3933	c.3862G>C	c.(3862-3864)Gaa>Caa	p.E1288Q	NUP210L_ENST00000368553.1_Missense_Mutation_p.E221Q|NUP210L_ENST00000271854.3_Missense_Mutation_p.E1288Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1288					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.E1288Q(1)		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)			TGGAGTTTTTCAAACACCTAT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											117.0	104.0	108.0					1																	154000067		1844	4094	5938	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.3862G>C	1.37:g.154000067C>G	ENSP00000357547:p.Glu1288Gln		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.E1288Q	ENST00000368559.3	37	c.3862	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544739	0.86022	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.27256	3.27;1.68;3.03	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	T	0.38746	0.1052	L	0.53249	1.67	0.47778	D	0.999514	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.915	T	0.02713	-1.1120	10	0.41790	T	0.15	-11.4609	17.5978	0.88016	0.0:1.0:0.0:0.0	.	1288;1288	E7EP56;Q5VU65	.;P210L_HUMAN	Q	1288;221;1288	ENSP00000357547:E1288Q;ENSP00000357541:E221Q;ENSP00000271854:E1288Q	ENSP00000271854:E1288Q	E	-	1	0	NUP210L	152266691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.961000	0.70356	2.696000	0.92011	0.655000	0.94253	GAA	NUP210L	-	NULL		0.363	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	C	NM_207308		154000067	-1	no_errors	ENST00000368559	ensembl	human	known	70_37	missense	SNP	1.000	G
NWD1	284434	genome.wustl.edu	37	19	16926106	16926106	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:16926106C>G	ENST00000552788.1	+	18	4661	c.4661C>G	c.(4660-4662)tCa>tGa	p.S1554*	NWD1_ENST00000523826.1_Nonsense_Mutation_p.S1348*|NWD1_ENST00000549814.1_Nonsense_Mutation_p.S1512*|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000339803.6_Nonsense_Mutation_p.S1419*|NWD1_ENST00000379808.3_3'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1554							ATP binding (GO:0005524)	p.S1419*(1)		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						GAAACCAAATCAAACAAATGC	0.458																																																	1	Substitution - Nonsense(1)	cervix(1)											35.0	30.0	32.0					19																	16926106		2203	4300	6503	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.4661C>G	19.37:g.16926106C>G	ENSP00000447224:p.Ser1554*		C9J021|Q68CT3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1419*	ENST00000552788.1	37	c.4256		19	.	.	.	.	.	.	.	.	.	.	C	38	6.925478	0.97940	.	.	ENSG00000188039	ENST00000420818;ENST00000549814;ENST00000523826;ENST00000552788;ENST00000339803	.	.	.	4.86	1.38	0.22167	.	.	.	.	.	.	.	.	.	.	.	0.30525	N	0.768045	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	1.4896	0.02454	0.1744:0.4654:0.1694:0.1908	.	.	.	.	X	1419;1512;1348;1554;1419	.	ENSP00000340159:S1419X	S	+	2	0	NWD1	16787106	0.006000	0.16342	0.006000	0.13384	0.007000	0.05969	0.128000	0.15810	0.521000	0.28445	-0.145000	0.13849	TCA	NWD1	-	NULL		0.458	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	C	NM_001007525		16926106	+1	no_errors	ENST00000339803	ensembl	human	known	70_37	nonsense	SNP	0.040	G
ODF2	4957	genome.wustl.edu	37	9	131262372	131262372	+	Silent	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:131262372G>T	ENST00000434106.3	+	21	2691	c.2328G>T	c.(2326-2328)ctG>ctT	p.L776L	ODF2_ENST00000351030.3_Silent_p.L771L|ODF2_ENST00000444119.2_Silent_p.L752L|ODF2_ENST00000604420.1_Silent_p.L776L|ODF2_ENST00000372807.5_Silent_p.L771L|ODF2_ENST00000393527.3_Silent_p.L752L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	776					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.L776L(1)|p.L752L(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGAGCCGGCTGCAAGACCTGA	0.547																																																	2	Substitution - coding silent(2)	cervix(2)											125.0	110.0	115.0					9																	131262372		2203	4300	6503	SO:0001819	synonymous_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2328G>T	9.37:g.131262372G>T			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	NULL	p.L776	ENST00000434106.3	37	c.2328	CCDS56588.1	9																																																																																			ODF2	-	NULL		0.547	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	G			131262372	+1	no_errors	ENST00000372796	ensembl	human	known	70_37	silent	SNP	0.943	T
OGDH	4967	genome.wustl.edu	37	7	44715759	44715759	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:44715759G>C	ENST00000222673.5	+	9	1248				OGDH_ENST00000444676.1_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000443864.2_Missense_Mutation_p.R406T|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R406T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GTAAGGCCCAGAGAGAGGCGT	0.547																																																	1	Substitution - Missense(1)	cervix(1)											80.0	77.0	78.0					7																	44715759		2203	4300	6503	SO:0001627	intron_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1206+11G>C	7.37:g.44715759G>C			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	pfam_DH_E1	p.R406T	ENST00000222673.5	37	c.1217	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648211	0.29336	.	.	ENSG00000105953	ENST00000443864	T	0.41400	1.0	3.66	0.751	0.18392	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.22277	-1.0221	7	.	.	.	.	4.8628	0.13592	0.1658:0.3221:0.5121:0.0	.	406	Q96DD3	.	T	406	ENSP00000388084:R406T	.	R	+	2	0	OGDH	44682284	0.512000	0.26186	0.000000	0.03702	0.095000	0.18619	0.291000	0.18994	-0.008000	0.14320	0.462000	0.41574	AGA	OGDH	-	NULL		0.547	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	G			44715759	+1	no_errors	ENST00000443864	ensembl	human	known	70_37	missense	SNP	0.000	C
OGDHL	55753	genome.wustl.edu	37	10	50952795	50952795	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:50952795C>T	ENST00000374103.4	-	13	1718	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	OGDHL_ENST00000419399.1_Missense_Mutation_p.E488K|OGDHL_ENST00000432695.1_Missense_Mutation_p.E336K	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	545					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)	p.E545K(1)		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						TTGGCAATTTCTTCCTGGAAT	0.532																																																	1	Substitution - Missense(1)	cervix(1)											98.0	94.0	95.0					10																	50952795		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.1633G>A	10.37:g.50952795C>T	ENSP00000363216:p.Glu545Lys		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.E545K	ENST00000374103.4	37	c.1633	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574280	0.45902	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.95788	2.54;2.54;-3.81	5.6	5.6	0.85130	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.93006	0.7774	N	0.25992	0.78	0.80722	D	1	B;B;B	0.23540	0.071;0.01;0.087	B;B;B	0.33690	0.049;0.02;0.168	D	0.88742	0.3244	10	0.28530	T	0.3	.	19.9801	0.97322	0.0:1.0:0.0:0.0	.	488;336;545	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	K	545;488;336	ENSP00000363216:E545K;ENSP00000401356:E488K;ENSP00000390240:E336K	ENSP00000363216:E545K	E	-	1	0	OGDHL	50622801	1.000000	0.71417	0.998000	0.56505	0.167000	0.22549	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	GAA	OGDHL	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.532	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	C	NM_018245		50952795	-1	no_errors	ENST00000374103	ensembl	human	known	70_37	missense	SNP	1.000	T
OLA1	29789	genome.wustl.edu	37	2	175094174	175094174	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:175094174G>C	ENST00000344357.5	-	0	153				OLA1_ENST00000284719.3_Missense_Mutation_p.S36C|OLA1_ENST00000409546.1_Missense_Mutation_p.S56C|OLA1_ENST00000428402.2_Missense_Mutation_p.S36C	NM_001011708.1	NP_001011708.1			Obg-like ATPase 1									p.S36C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GAAGAAAGTAGATTTCCTAAA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											47.0	48.0	48.0					2																	175094174		2203	4300	6503			29789				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000344357.5:c.-368C>G	2.37:g.175094174G>C				Missense_Mutation	SNP	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.S36C	ENST00000344357.5	37	c.107	CCDS42779.1	2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768909	0.90020	.	.	ENSG00000138430	ENST00000284719;ENST00000428402;ENST00000409546;ENST00000427472	T;T;T;T	0.61040	0.51;0.14;0.51;0.14	5.6	5.6	0.85130	GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	D	0.87755	0.6257	H	0.99545	4.62	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	0.92632	0.6117	10	0.87932	D	0	-15.7461	19.9855	0.97347	0.0:0.0:1.0:0.0	.	36;36;36	Q9NTK5-3;D7EHM2;Q9NTK5	.;.;OLA1_HUMAN	C	36;36;56;36	ENSP00000284719:S36C;ENSP00000410385:S36C;ENSP00000386350:S56C;ENSP00000414568:S36C	ENSP00000284719:S36C	S	-	2	0	OLA1	174802420	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.751000	0.98889	2.806000	0.96561	0.655000	0.94253	TCT	OLA1	-	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092		0.348	OLA1-002	KNOWN	basic|CCDS	protein_coding	OLA1	HGNC	protein_coding	OTTHUMT00000333876.2	G	NM_013341		175094174	-1	no_errors	ENST00000284719	ensembl	human	known	70_37	missense	SNP	1.000	C
OLFM2	93145	genome.wustl.edu	37	19	9968420	9968420	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:9968420C>T	ENST00000264833.4	-	3	516	c.331G>A	c.(331-333)Gat>Aat	p.D111N	OLFM2_ENST00000590841.1_Missense_Mutation_p.D33N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	111					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.D111N(3)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGGGACCCATCAGCTGCCCGG	0.577																																																	3	Substitution - Missense(3)	lung(2)|cervix(1)											41.0	45.0	44.0					19																	9968420		2203	4300	6503	SO:0001583	missense	93145			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.331G>A	19.37:g.9968420C>T	ENSP00000264833:p.Asp111Asn		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like	p.D111N	ENST00000264833.4	37	c.331	CCDS12221.1	19	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332722	0.41297	.	.	ENSG00000105088	ENST00000264833	T	0.42513	0.97	3.92	3.92	0.45320	.	0.203919	0.42053	D	0.000777	T	0.23965	0.0580	N	0.08118	0	0.34418	D	0.697125	B	0.30179	0.271	B	0.33121	0.158	T	0.32161	-0.9917	9	.	.	.	.	13.4794	0.61326	0.0:1.0:0.0:0.0	.	111	O95897	NOE2_HUMAN	N	111	ENSP00000264833:D111N	.	D	-	1	0	OLFM2	9829420	0.004000	0.15560	0.986000	0.45419	0.695000	0.40330	0.919000	0.28692	2.025000	0.59659	0.313000	0.20887	GAT	OLFM2	-	pfam_Noelin-1		0.577	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM2	HGNC	protein_coding	OTTHUMT00000451119.1	C			9968420	-1	no_errors	ENST00000264833	ensembl	human	known	70_37	missense	SNP	0.995	T
OPN1MW	2652	genome.wustl.edu	37	X	153461460	153461460	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:153461460G>A	ENST00000369935.5	+	6	1084	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N		NM_000513.2	NP_000504.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive	342					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAGAAGGTTGACGATGGCTC	0.552																																																	0													1.0	1.0	1.0					X																	153461460		153	369	522	SO:0001583	missense	2652			K03494	CCDS14743.1	Xq28	2013-01-08	2008-04-16		ENSG00000147380	ENSG00000268221		"""GPCR / Class A : Opsin receptors"""	4206	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300821	"""color blindness, deutan"", ""green cone photoreceptor pigment"""	GCP, CBBM, CBD			Standard	NM_000513		Approved	OPN1MW1, COD5	uc004fkb.3	P04001	OTTHUMG00000022652	ENST00000369935.5:c.1024G>A	X.37:g.153461460G>A	ENSP00000358951:p.Asp342Asn			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.D342N	ENST00000369935.5	37	c.1024	CCDS14743.1	X	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292348	0.80914	.	.	ENSG00000147380	ENST00000369935	T	0.36340	1.26	2.71	2.71	0.32032	.	0.116215	0.56097	D	0.000031	T	0.50034	0.1592	M	0.79123	2.44	0.53005	D	0.999964	D	0.55172	0.97	P	0.53809	0.735	T	0.56649	-0.7944	10	0.48119	T	0.1	.	12.4162	0.55494	0.0:0.0:1.0:0.0	.	342	P04001	OPSG_HUMAN	N	342	ENSP00000358951:D342N	ENSP00000358951:D342N	D	+	1	0	OPN1MW	153114654	1.000000	0.71417	0.779000	0.31741	0.891000	0.51852	4.512000	0.60469	1.301000	0.44836	0.358000	0.22013	GAC	OPN1MW	-	prints_Opsin_red/grn		0.552	OPN1MW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1MW	HGNC	protein_coding	OTTHUMT00000058771.3	G	NM_000513		153461460	+1	no_errors	ENST00000369935	ensembl	human	known	70_37	missense	SNP	1.000	A
OPN1SW	611	genome.wustl.edu	37	7	128414594	128414594	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:128414594G>A	ENST00000249389.2	-	3	644	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	215					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.L215L(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGAAGCAGATGAGGGAGAGAG	0.547																																																	1	Substitution - coding silent(1)	cervix(1)											131.0	119.0	123.0					7																	128414594		2203	4300	6503	SO:0001819	synonymous_variant	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.645C>T	7.37:g.128414594G>A			Q13877	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin	p.L215	ENST00000249389.2	37	c.645	CCDS5806.1	7																																																																																			OPN1SW	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.547	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	HGNC	protein_coding	OTTHUMT00000350655.1	G	NM_001708		128414594	-1	no_errors	ENST00000249389	ensembl	human	known	70_37	silent	SNP	1.000	A
OR10G2	26534	genome.wustl.edu	37	14	22102067	22102067	+	Silent	SNP	C	C	T	rs551427146		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:22102067C>T	ENST00000542433.1	-	1	1029	c.932G>A	c.(931-933)tGa>tAa	p.*311*		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*311*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCAGTCCTTCAACCTGCTGT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		10544	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	cervix(1)											113.0	105.0	108.0					14																	22102067		2203	4300	6503	SO:0001819	synonymous_variant	26534				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.932G>A	14.37:g.22102067C>T			B2RPD0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.*311	ENST00000542433.1	37	c.932	CCDS32047.1	14																																																																																			OR10G2	-	NULL		0.438	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G2	HGNC	protein_coding	OTTHUMT00000401525.1	C			22102067	-1	no_errors	ENST00000542433	ensembl	human	known	70_37	silent	SNP	0.000	T
OR10H3	26532	genome.wustl.edu	37	19	15852820	15852820	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:15852820C>T	ENST00000305892.1	+	1	618	c.618C>T	c.(616-618)gtC>gtT	p.V206V		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V206V(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTGTGTGTCACAGCCCTGA	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											334.0	293.0	307.0					19																	15852820		2203	4300	6503	SO:0001819	synonymous_variant	26532				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.618C>T	19.37:g.15852820C>T			Q2HIZ3|Q6IFQ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V206	ENST00000305892.1	37	c.618	CCDS12334.1	19																																																																																			OR10H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H3	HGNC	protein_coding	OTTHUMT00000460918.1	C			15852820	+1	no_errors	ENST00000305892	ensembl	human	known	70_37	silent	SNP	0.007	T
OR10H3	26532	genome.wustl.edu	37	19	15853003	15853003	+	Silent	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:15853003C>A	ENST00000305892.1	+	1	801	c.801C>A	c.(799-801)ctC>ctA	p.L267L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L267L(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCAAGGGCCTCCATTCTATGT	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											178.0	152.0	161.0					19																	15853003		2203	4300	6503	SO:0001819	synonymous_variant	26532				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.801C>A	19.37:g.15853003C>A			Q2HIZ3|Q6IFQ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L267	ENST00000305892.1	37	c.801	CCDS12334.1	19																																																																																			OR10H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H3	HGNC	protein_coding	OTTHUMT00000460918.1	C			15853003	+1	no_errors	ENST00000305892	ensembl	human	known	70_37	silent	SNP	0.000	A
OR10H1	26539	genome.wustl.edu	37	19	15918293	15918293	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:15918293C>T	ENST00000334920.2	-	1	643	c.555G>A	c.(553-555)ttG>ttA	p.L185L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L185L(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGCCAACTTCAACAGAGGTG	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											201.0	157.0	172.0					19																	15918293		2203	4300	6503	SO:0001819	synonymous_variant	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.555G>A	19.37:g.15918293C>T			Q6IFQ2|Q96R59	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L185	ENST00000334920.2	37	c.555	CCDS12335.1	19																																																																																			OR10H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.572	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	C			15918293	-1	no_errors	ENST00000334920	ensembl	human	known	70_37	silent	SNP	0.689	T
OR10K2	391107	genome.wustl.edu	37	1	158390018	158390018	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:158390018C>G	ENST00000314902.2	-	1	638	c.639G>C	c.(637-639)ttG>ttC	p.L213F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L213F(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACACCAAGATCAACAATAAGG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											146.0	135.0	139.0					1																	158390018		2203	4300	6503	SO:0001583	missense	391107			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.639G>C	1.37:g.158390018C>G	ENSP00000324251:p.Leu213Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L213F	ENST00000314902.2	37	c.639	CCDS30896.1	1	.	.	.	.	.	.	.	.	.	.	c	5.438	0.265919	0.10294	.	.	ENSG00000180708	ENST00000314902	T	0.42131	0.98	4.13	0.121	0.14695	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33938	N	0.004407	T	0.27967	0.0689	L	0.39085	1.19	0.28419	N	0.91784	D	0.89917	1.0	D	0.97110	1.0	T	0.06899	-1.0801	10	0.39692	T	0.17	.	3.2509	0.06814	0.2673:0.3513:0.0:0.3813	.	213	Q6IF99	O10K2_HUMAN	F	213	ENSP00000324251:L213F	ENSP00000324251:L213F	L	-	3	2	OR10K2	156656642	0.000000	0.05858	0.296000	0.24974	0.064000	0.16182	-0.895000	0.04118	0.149000	0.19098	0.461000	0.40582	TTG	OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	C	NM_001004476		158390018	-1	no_errors	ENST00000314902	ensembl	human	known	70_37	missense	SNP	0.660	G
OR10K2	391107	genome.wustl.edu	37	1	158390317	158390317	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:158390317G>A	ENST00000314902.2	-	1	339	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L114L(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACTGCCAGCAGAAAGGAGTGA	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											170.0	168.0	169.0					1																	158390317		2203	4300	6503	SO:0001819	synonymous_variant	391107			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.340C>T	1.37:g.158390317G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L114	ENST00000314902.2	37	c.340	CCDS30896.1	1																																																																																			OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.512	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	G	NM_001004476		158390317	-1	no_errors	ENST00000314902	ensembl	human	known	70_37	silent	SNP	0.992	A
OR10X1	128367	genome.wustl.edu	37	1	158549183	158549183	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:158549183G>A	ENST00000368150.1	-	1	506	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F169F(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAGAGATAAAGAAGCCTGCAG	0.468																																																	1	Substitution - coding silent(1)	cervix(1)											51.0	53.0	52.0					1																	158549183		2203	4300	6503	SO:0001819	synonymous_variant	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.507C>T	1.37:g.158549183G>A			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F169	ENST00000368150.1	37	c.507	CCDS30900.1	1																																																																																			OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		158549183	-1	no_errors	ENST00000368150	ensembl	human	known	70_37	silent	SNP	0.000	A
OR11H12	440153	genome.wustl.edu	37	14	19377637	19377637	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:19377637C>T	ENST00000550708.1	+	1	116	c.44C>T	c.(43-45)tCt>tTt	p.S15F		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGAATGTCTCTGAGCCAAAT	0.373																																																	0													9.0	9.0	9.0					14																	19377637		1440	3093	4533	SO:0001583	missense	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.44C>T	14.37:g.19377637C>T	ENSP00000449002:p.Ser15Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S15F	ENST00000550708.1	37	c.44	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	c	3.670	-0.067733	0.07273	.	.	ENSG00000257115	ENST00000550708	T	0.54675	0.56	.	.	.	.	0.329841	0.19344	U	0.116580	T	0.34454	0.0898	L	0.27053	0.805	0.25222	N	0.989898	B	0.21688	0.059	B	0.21546	0.035	T	0.29852	-0.9998	8	0.41790	T	0.15	.	6.4784	0.22049	0.0:0.9998:0.0:2.0E-4	.	15	B2RN74	O11HC_HUMAN	F	15	ENSP00000449002:S15F	ENSP00000449002:S15F	S	+	2	0	CR383656.1	18447637	0.000000	0.05858	0.564000	0.28396	0.170000	0.22686	0.057000	0.14279	0.413000	0.25759	0.064000	0.15345	TCT	OR11H12	-	NULL		0.373	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	C	NM_001013354		19377637	+1	no_errors	ENST00000550708	ensembl	human	known	70_37	missense	SNP	0.977	T
OR13C2	392376	genome.wustl.edu	37	9	107367884	107367884	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:107367884G>C	ENST00000542196.1	-	1	67	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L9V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTCCACCAGAATGGTGTGG	0.373																																																	1	Substitution - Missense(1)	cervix(1)											47.0	52.0	50.0					9																	107367884		2195	4299	6494	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.25C>G	9.37:g.107367884G>C	ENSP00000438815:p.Leu9Val		B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L9V	ENST00000542196.1	37	c.25	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.111042	0.00353	.	.	ENSG00000257019	ENST00000542196	T	0.00299	8.22	3.39	-1.19	0.09585	.	0.313759	0.16689	U	0.203629	T	0.00039	0.0001	N	0.00081	-2.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47114	-0.9142	10	0.02654	T	1	.	0.7009	0.00908	0.3362:0.1654:0.331:0.1674	.	9	Q8NGS9	O13C2_HUMAN	V	9	ENSP00000438815:L9V	ENSP00000438815:L9V	L	-	1	2	OR13C2	106407705	0.000000	0.05858	0.093000	0.20910	0.892000	0.51952	-2.895000	0.00707	-0.123000	0.11745	-0.379000	0.06801	CTG	OR13C2	-	NULL		0.373	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	G	NM_001004481		107367884	-1	no_errors	ENST00000542196	ensembl	human	known	70_37	missense	SNP	0.000	C
OR2T2	401992	genome.wustl.edu	37	1	248616299	248616299	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:248616299C>G	ENST00000342927.3	+	1	223	c.201C>G	c.(199-201)ctC>ctG	p.L67L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L67L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGCCAGCTCTCCATCATGG	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											123.0	135.0	131.0					1																	248616299		2202	4281	6483	SO:0001819	synonymous_variant	401992			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.201C>G	1.37:g.248616299C>G			B2RNM1|B9EH01	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L67	ENST00000342927.3	37	c.201	CCDS31116.1	1																																																																																			OR2T2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.517	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	C	NM_001004136		248616299	+1	no_errors	ENST00000342927	ensembl	human	known	70_37	silent	SNP	0.787	G
OR2G6	391211	genome.wustl.edu	37	1	248685098	248685098	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:248685098C>G	ENST00000343414.4	+	1	183	c.151C>G	c.(151-153)Ctg>Gtg	p.L51V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L51V(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTATGTTGTCTGGACTCCAG	0.483																																																	1	Substitution - Missense(1)	cervix(1)											146.0	125.0	132.0					1																	248685098		2203	4300	6503	SO:0001583	missense	391211				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.151C>G	1.37:g.248685098C>G	ENSP00000341291:p.Leu51Val		B2RP33	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L51V	ENST00000343414.4	37	c.151	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	-	2.145	-0.395845	0.04899	.	.	ENSG00000188558	ENST00000343414	T	0.02944	4.1	3.68	-5.54	0.02544	GPCR, rhodopsin-like superfamily (1);	0.230352	0.21887	N	0.067645	T	0.02047	0.0064	L	0.52011	1.625	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.42766	-0.9432	10	0.45353	T	0.12	.	0.2107	0.00156	0.2881:0.253:0.1429:0.316	.	51	Q5TZ20	OR2G6_HUMAN	V	51	ENSP00000341291:L51V	ENSP00000341291:L51V	L	+	1	2	OR2G6	246751721	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-3.014000	0.00646	-0.563000	0.06078	0.400000	0.26472	CTG	OR2G6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	HGNC	protein_coding	OTTHUMT00000097358.1	C	XM_372842		248685098	+1	no_errors	ENST00000343414	ensembl	human	known	70_37	missense	SNP	0.000	G
OR2V2	285659	genome.wustl.edu	37	5	180582416	180582416	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:180582416G>C	ENST00000328275.1	+	1	474	c.474G>C	c.(472-474)ttG>ttC	p.L158F		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L158F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGATGGCTTGATCCAGATGG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											219.0	209.0	212.0					5																	180582416		2203	4300	6503	SO:0001583	missense	285659			AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.474G>C	5.37:g.180582416G>C	ENSP00000332185:p.Leu158Phe		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L158F	ENST00000328275.1	37	c.474	CCDS4461.1	5	.	.	.	.	.	.	.	.	.	.	.	0.108	-1.142185	0.01728	.	.	ENSG00000182613	ENST00000328275	T	0.00274	8.35	3.27	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	1.488390	0.05075	N	0.482350	T	0.00210	0.0006	L	0.33093	0.98	0.19945	N	0.999947	P	0.49307	0.922	P	0.46850	0.529	T	0.45293	-0.9271	10	0.06099	T	0.92	.	7.9848	0.30205	0.0:0.0:0.5571:0.4429	.	158	Q96R30	OR2V2_HUMAN	F	158	ENSP00000332185:L158F	ENSP00000332185:L158F	L	+	3	2	OR2V2	180515022	0.000000	0.05858	0.490000	0.27465	0.026000	0.11368	-0.471000	0.06631	0.670000	0.31165	0.305000	0.20034	TTG	OR2V2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2V2	HGNC	protein_coding	OTTHUMT00000253529.1	G			180582416	+1	no_errors	ENST00000328275	ensembl	human	known	70_37	missense	SNP	0.347	C
OR51D1	390038	genome.wustl.edu	37	11	4661948	4661948	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:4661948G>C	ENST00000357605.2	+	1	1004	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E310Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGACCAAAGAGATCTGTTC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											83.0	82.0	82.0					11																	4661948		2201	4298	6499	SO:0001583	missense	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.928G>C	11.37:g.4661948G>C	ENSP00000350222:p.Glu310Gln		B9EIK4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E310Q	ENST00000357605.2	37	c.928	CCDS31357.1	11	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.287167	0.00248	.	.	ENSG00000197428	ENST00000357605	T	0.38240	1.15	4.7	2.65	0.31530	.	0.155743	0.30093	N	0.010437	T	0.09512	0.0234	N	0.00500	-1.43	0.37804	D	0.927818	B	0.12013	0.005	B	0.13407	0.009	T	0.34850	-0.9812	10	0.02654	T	1	.	12.699	0.57020	0.0:0.5075:0.4924:0.0	.	310	Q8NGF3	O51D1_HUMAN	Q	310	ENSP00000350222:E310Q	ENSP00000350222:E310Q	E	+	1	0	OR51D1	4618524	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	3.030000	0.49720	1.307000	0.44944	-0.302000	0.09304	GAG	OR51D1	-	prints_GPCR_Rhodpsn		0.493	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	HGNC	protein_coding	OTTHUMT00000385956.1	G	NM_001004751		4661948	+1	no_errors	ENST00000357605	ensembl	human	known	70_37	missense	SNP	1.000	C
OR52D1	390066	genome.wustl.edu	37	11	5510628	5510628	+	Missense_Mutation	SNP	T	T	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:5510628T>A	ENST00000322641.5	+	1	714	c.692T>A	c.(691-693)cTt>cAt	p.L231H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	231					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L231H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTTTCATCTTCCATCTCAT	0.488																																																	1	Substitution - Missense(1)	cervix(1)											229.0	200.0	210.0					11																	5510628		2201	4297	6498	SO:0001583	missense	390066			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.692T>A	11.37:g.5510628T>A	ENSP00000326232:p.Leu231His		B9EGY9|Q6IFI6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L231H	ENST00000322641.5	37	c.692	CCDS31384.1	11	.	.	.	.	.	.	.	.	.	.	T	8.765	0.924508	0.18056	.	.	ENSG00000181609	ENST00000322641	T	0.00152	8.66	5.58	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000026	T	0.00524	0.0017	M	0.88640	2.97	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23190	-1.0195	10	0.87932	D	0	.	10.7702	0.46319	0.0:0.0744:0.0:0.9256	.	231	Q9H346	O52D1_HUMAN	H	231	ENSP00000326232:L231H	ENSP00000326232:L231H	L	+	2	0	OR52D1	5467204	0.565000	0.26610	0.004000	0.12327	0.003000	0.03518	2.171000	0.42453	1.132000	0.42129	-0.263000	0.10527	CTT	OR52D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52D1	HGNC	protein_coding	OTTHUMT00000143372.1	T	NM_001005163		5510628	+1	no_errors	ENST00000322641	ensembl	human	known	70_37	missense	SNP	0.001	A
OR52N1	79473	genome.wustl.edu	37	11	5809764	5809764	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:5809764C>T	ENST00000317078.1	-	1	282	c.283G>A	c.(283-285)Gat>Aat	p.D95N	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D95N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GCTTTAAAATCAATCTCCTTG	0.502																																																	1	Substitution - Missense(1)	cervix(1)											144.0	136.0	139.0					11																	5809764		2201	4296	6497	SO:0001583	missense	79473			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.283G>A	11.37:g.5809764C>T	ENSP00000322823:p.Asp95Asn		Q6IFF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.D95N	ENST00000317078.1	37	c.283	CCDS31398.1	11	.	.	.	.	.	.	.	.	.	.	C	7.818	0.717122	0.15372	.	.	ENSG00000181001	ENST00000317078	T	0.36340	1.26	4.59	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000098	T	0.18509	0.0444	N	0.20807	0.61	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.07520	-1.0768	10	0.33141	T	0.24	.	3.1461	0.06472	0.2014:0.5448:0.0:0.2538	.	95	Q8NH53	O52N1_HUMAN	N	95	ENSP00000322823:D95N	ENSP00000322823:D95N	D	-	1	0	OR52N1	5766340	0.000000	0.05858	0.607000	0.28956	0.841000	0.47740	-2.659000	0.00852	1.274000	0.44362	0.609000	0.83330	GAT	OR52N1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1	C	NM_001001913		5809764	-1	no_errors	ENST00000317078	ensembl	human	known	70_37	missense	SNP	0.064	T
OR4A16	81327	genome.wustl.edu	37	11	55111137	55111137	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:55111137C>G	ENST00000314721.2	+	1	511	c.461C>G	c.(460-462)tCt>tGt	p.S154C		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S154C(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTGTGCACTCTGTGGTTCAA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											194.0	174.0	180.0					11																	55111137		2201	4296	6497	SO:0001583	missense	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.461C>G	11.37:g.55111137C>G	ENSP00000325128:p.Ser154Cys		Q6IFL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S154C	ENST00000314721.2	37	c.461	CCDS31499.1	11	.	.	.	.	.	.	.	.	.	.	c	7.583	0.669087	0.14776	.	.	ENSG00000181961	ENST00000314721	T	0.44482	0.92	2.69	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64204	0.2577	M	0.88906	2.99	0.09310	N	1	D	0.71674	0.998	D	0.73380	0.98	T	0.52049	-0.8627	9	0.87932	D	0	.	5.5471	0.17069	0.0:0.8411:0.0:0.1589	.	154	Q8NH70	O4A16_HUMAN	C	154	ENSP00000325128:S154C	ENSP00000325128:S154C	S	+	2	0	OR4A16	54867713	0.000000	0.05858	0.008000	0.14137	0.040000	0.13550	0.249000	0.18216	1.509000	0.48786	0.423000	0.28283	TCT	OR4A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.453	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1	C	NM_001005274		55111137	+1	no_errors	ENST00000314721	ensembl	human	known	70_37	missense	SNP	0.004	G
OR5T3	390154	genome.wustl.edu	37	11	56020545	56020545	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:56020545G>C	ENST00000303059.3	+	1	870	c.870G>C	c.(868-870)atG>atC	p.M290I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M290I(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TCAGTTATATGAGACCAAGTT	0.403																																																	1	Substitution - Missense(1)	cervix(1)											155.0	140.0	145.0					11																	56020545		2201	4295	6496	SO:0001583	missense	390154			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.870G>C	11.37:g.56020545G>C	ENSP00000305403:p.Met290Ile		Q6IFC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M290I	ENST00000303059.3	37	c.870	CCDS31524.1	11	.	.	.	.	.	.	.	.	.	.	G	4.767	0.142552	0.09083	.	.	ENSG00000172489	ENST00000303059	T	0.34859	1.34	4.46	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	1.468750	0.04322	N	0.350874	T	0.26484	0.0647	N	0.11870	0.19	0.19775	N	0.999956	B	0.12630	0.006	B	0.22152	0.038	T	0.22941	-1.0202	10	0.51188	T	0.08	.	9.1281	0.36828	0.0817:0.1478:0.7704:0.0	.	290	Q8NGG3	OR5T3_HUMAN	I	290	ENSP00000305403:M290I	ENSP00000305403:M290I	M	+	3	0	OR5T3	55777121	0.000000	0.05858	0.067000	0.19924	0.051000	0.14879	-0.928000	0.03980	1.219000	0.43474	0.643000	0.83706	ATG	OR5T3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	G	NM_001004747		56020545	+1	no_errors	ENST00000303059	ensembl	human	known	70_37	missense	SNP	0.411	C
OR6C65	403282	genome.wustl.edu	37	12	55795184	55795184	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:55795184G>A	ENST00000379665.2	+	1	971	c.872G>A	c.(871-873)aGa>aAa	p.R291K		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R291K(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TATACCTTAAGAAACCAGCAG	0.358																																																	1	Substitution - Missense(1)	cervix(1)											51.0	51.0	51.0					12																	55795184		2203	4300	6503	SO:0001583	missense	403282				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.872G>A	12.37:g.55795184G>A	ENSP00000368986:p.Arg291Lys		B2RNH9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R291K	ENST00000379665.2	37	c.872	CCDS31821.1	12	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153989	0.57259	.	.	ENSG00000205328	ENST00000379665	T	0.39997	1.05	4.24	4.24	0.50183	.	0.000000	0.44483	U	0.000454	T	0.55081	0.1898	M	0.79614	2.46	0.26299	N	0.978004	P	0.51537	0.946	P	0.54026	0.74	T	0.53858	-0.8379	10	0.72032	D	0.01	.	10.3705	0.44051	0.0935:0.0:0.9065:0.0	.	291	A6NJZ3	O6C65_HUMAN	K	291	ENSP00000368986:R291K	ENSP00000368986:R291K	R	+	2	0	OR6C65	54081451	0.635000	0.27199	0.254000	0.24359	0.458000	0.32498	2.880000	0.48530	2.076000	0.62316	0.424000	0.28305	AGA	OR6C65	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.358	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	HGNC	protein_coding	OTTHUMT00000406674.1	G			55795184	+1	no_errors	ENST00000379665	ensembl	human	known	70_37	missense	SNP	0.968	A
OR6K2	81448	genome.wustl.edu	37	1	158669694	158669694	+	Missense_Mutation	SNP	G	G	A	rs144883209	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:158669694G>A	ENST00000359610.2	-	1	792	c.749C>T	c.(748-750)tCg>tTg	p.S250L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S250L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAGAAGAGCGAAAAGACAAT	0.473																																																	1	Substitution - Missense(1)	cervix(1)						G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	119.0	109.0	113.0		749	2.6	1.0	1	dbSNP_134	113	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR6K2	NM_001005279.1	145	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	250/325	158669694	5,13001	2203	4300	6503	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.749C>T	1.37:g.158669694G>A	ENSP00000352626:p.Ser250Leu		B9EH33|Q6IFR6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S250L	ENST00000359610.2	37	c.749	CCDS30902.1	1	.	.	.	.	.	.	.	.	.	.	G	0.913	-0.718351	0.03182	2.27E-4	4.65E-4	ENSG00000196171	ENST00000359610	T	0.35048	1.33	4.94	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.242335	0.21223	N	0.078104	T	0.03520	0.0101	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	10	0.06236	T	0.91	-1.3216	5.4282	0.16438	0.6847:0.1488:0.1665:0.0	.	250	Q8NGY2	OR6K2_HUMAN	L	250	ENSP00000352626:S250L	ENSP00000352626:S250L	S	-	2	0	OR6K2	156936318	0.000000	0.05858	0.978000	0.43139	0.104000	0.19210	-0.287000	0.08388	0.903000	0.36546	-0.238000	0.12139	TCG	OR6K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K2	HGNC	protein_coding	OTTHUMT00000059061.1	G	NM_001005279		158669694	-1	no_errors	ENST00000359610	ensembl	human	known	70_37	missense	SNP	0.000	A
OR6M1	390261	genome.wustl.edu	37	11	123676287	123676287	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:123676287C>T	ENST00000309154.2	-	1	808	c.771G>A	c.(769-771)gtG>gtA	p.V257V		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V257V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GATTGGGTCTCACATACACAA	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											107.0	97.0	101.0					11																	123676287		2202	4299	6501	SO:0001819	synonymous_variant	390261			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.771G>A	11.37:g.123676287C>T			B2RNK0|Q6IEW9|Q96R37	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V257	ENST00000309154.2	37	c.771	CCDS31696.1	11																																																																																			OR6M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	HGNC	protein_coding	OTTHUMT00000387437.1	C	NM_001005325		123676287	-1	no_errors	ENST00000309154	ensembl	human	known	70_37	silent	SNP	0.994	T
OR6T1	219874	genome.wustl.edu	37	11	123813598	123813598	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:123813598C>T	ENST00000321252.2	-	1	982	c.948G>A	c.(946-948)ctG>ctA	p.L316L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L316L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		TTGTGACCCTCAGTTTCATCA	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											109.0	108.0	109.0					11																	123813598		2202	4299	6501	SO:0001819	synonymous_variant	219874			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.948G>A	11.37:g.123813598C>T			Q6IFE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L316	ENST00000321252.2	37	c.948	CCDS31700.1	11																																																																																			OR6T1	-	NULL		0.428	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	HGNC	protein_coding	OTTHUMT00000387264.1	C	NM_001005187		123813598	-1	no_errors	ENST00000321252	ensembl	human	known	70_37	silent	SNP	0.001	T
ORC4	5000	genome.wustl.edu	37	2	148710052	148710052	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:148710052C>T	ENST00000392857.5	-	8	585	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	ORC4_ENST00000392858.1_Missense_Mutation_p.E160K|ORC4_ENST00000540442.1_Missense_Mutation_p.E86K|ORC4_ENST00000542387.1_Intron|ORC4_ENST00000264169.2_Missense_Mutation_p.E160K|ORC4_ENST00000535373.1_Missense_Mutation_p.E160K|ORC4_ENST00000536575.1_Missense_Mutation_p.E76K	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	160					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.E160K(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						AGATCAAATTCATCTAATATG	0.333																																																	1	Substitution - Missense(1)	cervix(1)											99.0	105.0	103.0					2																	148710052		2203	4300	6503	SO:0001583	missense	5000			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.478G>A	2.37:g.148710052C>T	ENSP00000376597:p.Glu160Lys		B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4	p.E160K	ENST00000392857.5	37	c.478	CCDS2187.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.778786	0.96929	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.94	5.94	0.96194	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.047907	0.85682	N	0.000000	D	0.91466	0.7306	H	0.97564	4.03	0.80722	D	1	D;D;D	0.76494	0.999;0.982;0.999	D;P;D	0.66602	0.945;0.82;0.921	D	0.93548	0.6884	10	0.72032	D	0.01	-10.2798	20.369	0.98888	0.0:1.0:0.0:0.0	.	160;160;160	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	K	160;160;160;86;76;160	ENSP00000264169:E160K;ENSP00000441953:E160K;ENSP00000376598:E160K;ENSP00000438326:E86K;ENSP00000441502:E76K;ENSP00000376597:E160K	ENSP00000264169:E160K	E	-	1	0	ORC4	148426522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.688000	0.84153	2.819000	0.97034	0.650000	0.86243	GAA	ORC4	-	pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4		0.333	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC4	HGNC	protein_coding	OTTHUMT00000254797.3	C	NM_181742		148710052	-1	no_errors	ENST00000264169	ensembl	human	known	70_37	missense	SNP	1.000	T
OS9	10956	genome.wustl.edu	37	12	58112097	58112097	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:58112097G>A	ENST00000315970.7	+	11	1344	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	OS9_ENST00000439210.2_Missense_Mutation_p.E376K|OS9_ENST00000552285.1_Missense_Mutation_p.E435K|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389142.5_Missense_Mutation_p.E435K|OS9_ENST00000435406.2_Missense_Mutation_p.E383K|OS9_ENST00000257966.8_Missense_Mutation_p.E436K|OS9_ENST00000413095.2_Missense_Mutation_p.E229K|OS9_ENST00000551035.1_Missense_Mutation_p.E403K|OS9_ENST00000389146.6_Missense_Mutation_p.E435K	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	435					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.E435K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTTACTGGGAGAATTTGAGAA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											218.0	190.0	199.0					12																	58112097		2203	4300	6503	SO:0001583	missense	10956			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1303G>A	12.37:g.58112097G>A	ENSP00000318165:p.Glu435Lys		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.E435K	ENST00000315970.7	37	c.1303	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771943	0.90108	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.37915	1.65;1.76;1.84;1.86;1.17;1.57;1.66;1.56;1.86	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.32530	0.975	0.53005	D	0.999962	D;B;D;D;D;D;D;P	0.64830	0.982;0.037;0.994;0.991;0.982;0.985;0.97;0.816	D;B;D;D;D;D;P;B	0.78314	0.952;0.024;0.991;0.965;0.952;0.923;0.692;0.376	T	0.30707	-0.9969	10	0.36615	T	0.2	.	10.1759	0.42937	0.1584:0.0:0.8416:0.0	.	376;403;229;436;435;435;435;435	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	K	435;435;376;435;229;403;436;383;435	ENSP00000450010:E435K;ENSP00000318165:E435K;ENSP00000407360:E376K;ENSP00000373798:E435K;ENSP00000413112:E229K;ENSP00000447866:E403K;ENSP00000257966:E436K;ENSP00000389632:E383K;ENSP00000373794:E435K	ENSP00000257966:E436K	E	+	1	0	OS9	56398364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.808000	0.55598	1.571000	0.49722	0.655000	0.94253	GAA	OS9	-	NULL		0.532	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	G	NM_006812		58112097	+1	no_errors	ENST00000315970	ensembl	human	known	70_37	missense	SNP	1.000	A
OSBPL11	114885	genome.wustl.edu	37	3	125282577	125282577	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:125282577C>G	ENST00000296220.5	-	7	1268	c.979G>C	c.(979-981)Gag>Cag	p.E327Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	327					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.E327Q(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ACAGGCTGCTCTTCTGGGACT	0.403																																																	1	Substitution - Missense(1)	cervix(1)											112.0	112.0	112.0					3																	125282577		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.979G>C	3.37:g.125282577C>G	ENSP00000296220:p.Glu327Gln		A8K9I7	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E327Q	ENST00000296220.5	37	c.979	CCDS3033.1	3	.	.	.	.	.	.	.	.	.	.	C	9.516	1.107011	0.20714	.	.	ENSG00000144909	ENST00000296220	T	0.18016	2.24	4.71	4.71	0.59529	.	1.061880	0.07231	N	0.862463	T	0.18173	0.0436	L	0.41236	1.265	0.32783	N	0.502277	B	0.23735	0.09	B	0.18561	0.022	T	0.12708	-1.0537	10	0.18710	T	0.47	-3.9614	16.0266	0.80550	0.0:1.0:0.0:0.0	.	327	Q9BXB4	OSB11_HUMAN	Q	327	ENSP00000296220:E327Q	ENSP00000296220:E327Q	E	-	1	0	OSBPL11	126765267	0.990000	0.36364	0.828000	0.32881	0.813000	0.45954	2.668000	0.46816	2.427000	0.82271	0.467000	0.42956	GAG	OSBPL11	-	NULL		0.403	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	C	NM_022776		125282577	-1	no_errors	ENST00000296220	ensembl	human	known	70_37	missense	SNP	0.786	G
OSTC	58505	genome.wustl.edu	37	4	109578771	109578771	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:109578771delC	ENST00000361564.4	+	3	471	c.399delC	c.(397-399)ttcfs	p.F133fs	OSTC_ENST00000512478.2_Frame_Shift_Del_p.F133fs	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	133					protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGAGTTTTTTCATGGCTAGAG	0.363																																																	0													64.0	61.0	62.0					4																	109578771		2203	4300	6503	SO:0001589	frameshift_variant	58505			AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"""DC2 protein"""		"""oligosaccharyltransferase complex subunit"""			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.399delC	4.37:g.109578771delC	ENSP00000354676:p.Phe133fs		A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Frame_Shift_Del	DEL	pfam_OligosaccharylTrfase_OST3/OST6	p.F133fs	ENST00000361564.4	37	c.399	CCDS3681.1	4																																																																																			OSTC	-	pfam_OligosaccharylTrfase_OST3/OST6		0.363	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTC	HGNC	protein_coding	OTTHUMT00000363485.1	C	NM_021227		109578771	+1	no_errors	ENST00000361564	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
OTOP2	92736	genome.wustl.edu	37	17	72921682	72921682	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:72921682C>T	ENST00000580223.1	+	2	375	c.345C>T	c.(343-345)ctC>ctT	p.L115L	USH1G_ENST00000319642.1_5'Flank|OTOP2_ENST00000331427.4_Silent_p.L115L			Q7RTS6	OTOP2_HUMAN	otopetrin 2	115						integral component of membrane (GO:0016021)		p.L115L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCTGCACCCTCATCATGGATG	0.557																																																	1	Substitution - coding silent(1)	cervix(1)											147.0	134.0	138.0					17																	72921682		2203	4300	6503	SO:0001819	synonymous_variant	92736			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.345C>T	17.37:g.72921682C>T				Silent	SNP	pfam_Otopetrin	p.L115	ENST00000580223.1	37	c.345	CCDS11708.1	17																																																																																			OTOP2	-	pfam_Otopetrin		0.557	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	HGNC	protein_coding	OTTHUMT00000445306.1	C	NM_178160		72921682	+1	no_errors	ENST00000331427	ensembl	human	known	70_37	silent	SNP	0.003	T
OVCH2	341277	genome.wustl.edu	37	11	7723819	7723819	+	lincRNA	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:7723819G>C	ENST00000527565.1	-	0	1178				OVCH2_ENST00000454689.1_RNA|OVCH2_ENST00000534193.2_RNA														p.D116E(1)									GCTCTCCTGGGTCTGTCTGGC	0.393																																																	1	Substitution - Missense(1)	cervix(1)											107.0	101.0	103.0					11																	7723819		1887	4126	6013			341277																															11.37:g.7723819G>C				Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D116E	ENST00000527565.1	37	c.348		11	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.007127	0.00426	.	.	ENSG00000183378	ENST00000454689	D	0.92805	-3.11	5.92	-4.02	0.04034	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.144441	0.31685	N	0.007229	T	0.72195	0.3430	N	0.12611	0.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66937	-0.5797	10	0.02654	T	1	-9.8554	0.3589	0.00361	0.2219:0.2006:0.2195:0.358	.	116	Q7RTZ1	OVCH2_HUMAN	E	116	ENSP00000407158:D116E	ENSP00000407158:D116E	D	-	3	2	OVCH2	7680395	0.027000	0.19231	0.191000	0.23289	0.030000	0.12068	-0.609000	0.05635	-0.797000	0.04450	-0.228000	0.12330	GAC	OVCH2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.393	RP11-35J10.5-001	KNOWN	basic|readthrough_transcript	lincRNA	OVCH2	HGNC	lincRNA	OTTHUMT00000385692.1	G			7723819	-1	no_errors	ENST00000454689	ensembl	human	known	70_37	missense	SNP	0.084	C
P2RY4	5030	genome.wustl.edu	37	X	69479359	69479359	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:69479359G>A	ENST00000374519.2	-	1	295	c.116C>T	c.(115-117)cCt>cTt	p.P39L		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	39					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.P39L(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						ATAGCTCACAGGCAGCAGGAT	0.577																																																	1	Substitution - Missense(1)	cervix(1)											63.0	48.0	53.0					X																	69479359		2203	4300	6503	SO:0001583	missense	5030			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.116C>T	X.37:g.69479359G>A	ENSP00000363643:p.Pro39Leu		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_GPCR_Rhodpsn,prints_P2U_purnocptor	p.P39L	ENST00000374519.2	37	c.116	CCDS14398.1	X	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585140	0.66105	.	.	ENSG00000186912	ENST00000374519	T	0.37058	1.22	3.97	3.97	0.46021	.	0.000000	0.85682	U	0.000000	T	0.39655	0.1086	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53279	-0.8461	10	0.87932	D	0	.	14.6501	0.68792	0.0:0.0:1.0:0.0	.	39	P51582	P2RY4_HUMAN	L	39	ENSP00000363643:P39L	ENSP00000363643:P39L	P	-	2	0	P2RY4	69396084	1.000000	0.71417	0.995000	0.50966	0.638000	0.38207	9.441000	0.97557	1.981000	0.57761	0.517000	0.50305	CCT	P2RY4	-	prints_GPCR_Rhodpsn		0.577	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY4	HGNC	protein_coding	OTTHUMT00000057058.2	G	NM_002565		69479359	-1	no_errors	ENST00000374519	ensembl	human	known	70_37	missense	SNP	1.000	A
PABPC3	5042	genome.wustl.edu	37	13	25671015	25671015	+	Missense_Mutation	SNP	A	A	G	rs75314628	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:25671015A>G	ENST00000281589.3	+	1	716	c.679A>G	c.(679-681)Agt>Ggt	p.S227G		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	227	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GACCGATGAAAGTGGAAAATC	0.413													a|||	126	0.0251597	0.0552	0.013	5008	,	,		21269	0.0119		0.0139	False		,,,				2504	0.0184																0													79.0	74.0	76.0					13																	25671015		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.679A>G	13.37:g.25671015A>G	ENSP00000281589:p.Ser227Gly		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.S227G	ENST00000281589.3	37	c.679	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	A	8.318	0.823719	0.16678	.	.	ENSG00000151846	ENST00000281589	D	0.88896	-2.44	0.993	-1.99	0.07457	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.106561	0.39687	U	0.001298	T	0.77738	0.4175	L	0.33668	1.02	0.25356	N	0.988823	B	0.13145	0.007	B	0.19946	0.027	T	0.62978	-0.6739	10	0.49607	T	0.09	.	2.9462	0.05847	0.5522:0.2525:0.1953:0.0	.	227	Q9H361	PABP3_HUMAN	G	227	ENSP00000281589:S227G	ENSP00000281589:S227G	S	+	1	0	PABPC3	24569015	0.552000	0.26505	0.565000	0.28409	0.898000	0.52572	0.933000	0.28897	-0.777000	0.04572	-0.714000	0.03626	AGT	PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.413	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	A	NM_030979		25671015	+1	no_errors	ENST00000281589	ensembl	human	known	70_37	missense	SNP	0.980	G
PABPC3	5042	genome.wustl.edu	37	13	25671651	25671651	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:25671651C>T	ENST00000281589.3	+	1	1352	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	439					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.H439Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGCCAGACCTCATCCATTCCA	0.512																																																	1	Substitution - Missense(1)	cervix(1)											155.0	150.0	152.0					13																	25671651		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1315C>T	13.37:g.25671651C>T	ENSP00000281589:p.His439Tyr		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.H439Y	ENST00000281589.3	37	c.1315	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	C	0.357	-0.941792	0.02322	.	.	ENSG00000151846	ENST00000281589	T	0.26518	1.73	0.875	0.875	0.19130	.	0.000000	0.48767	U	0.000163	T	0.18341	0.0440	M	0.61703	1.905	0.35309	D	0.783732	B	0.10296	0.003	B	0.09377	0.004	T	0.30534	-0.9975	10	0.02654	T	1	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	439	Q9H361	PABP3_HUMAN	Y	439	ENSP00000281589:H439Y	ENSP00000281589:H439Y	H	+	1	0	PABPC3	24569651	1.000000	0.71417	0.997000	0.53966	0.190000	0.23558	2.335000	0.43929	0.759000	0.33084	0.313000	0.20887	CAT	PABPC3	-	tigrfam_PABP_1234		0.512	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	C	NM_030979		25671651	+1	no_errors	ENST00000281589	ensembl	human	known	70_37	missense	SNP	1.000	T
PABPC4	8761	genome.wustl.edu	37	1	40036806	40036806	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:40036806G>A	ENST00000372857.3	-	3	1296				PABPC4_ENST00000372856.3_Intron|PABPC4_ENST00000372858.3_Intron|PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000529216.1_5'UTR|RP11-69E11.8_ENST00000415255.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)						blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGCCACACTTGGGCCGAGAAC	0.622																																																	0																																										SO:0001627	intron_variant	8761			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.503+99C>T	1.37:g.40036806G>A			B1ANQ8|Q4VC03|Q6P0N3	RNA	SNP	-	NULL	ENST00000372857.3	37	NULL	CCDS438.1	1																																																																																			PABPC4	-	-		0.622	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	HGNC	protein_coding	OTTHUMT00000025220.1	G	NM_001135653		40036806	-1	no_errors	ENST00000529216	ensembl	human	putative	70_37	rna	SNP	1.000	A
PACSIN2	11252	genome.wustl.edu	37	22	43289475	43289475	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:43289475G>T	ENST00000263246.3	-	3	406	c.205C>A	c.(205-207)Ctc>Atc	p.L69I	PACSIN2_ENST00000337959.4_Missense_Mutation_p.L69I|PACSIN2_ENST00000407585.1_Missense_Mutation_p.L69I|PACSIN2_ENST00000403744.3_Missense_Mutation_p.L69I|PACSIN2_ENST00000402229.1_Missense_Mutation_p.L69I	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	69	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.L69I(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TTCTCCACGAGCTGCCTCCAG	0.672																																																	1	Substitution - Missense(1)	cervix(1)											28.0	32.0	30.0					22																	43289475		2085	4240	6325	SO:0001583	missense	11252			AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.205C>A	22.37:g.43289475G>T	ENSP00000263246:p.Leu69Ile		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.L69I	ENST00000263246.3	37	c.205	CCDS43023.1	22	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892446	0.72524	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336	T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	4.49	4.49	0.54785	Fps/Fes/Fer/CIP4 homology (3);	0.185417	0.48767	D	0.000170	T	0.37461	0.1004	M	0.64567	1.98	0.80722	D	1	P;P	0.49559	0.732;0.925	P;D	0.63957	0.701;0.92	T	0.01697	-1.1293	10	0.25106	T	0.35	-12.0308	18.5054	0.90896	0.0:0.0:1.0:0.0	.	69;69	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	I	69	ENSP00000263246:L69I;ENSP00000338379:L69I;ENSP00000385952:L69I;ENSP00000385372:L69I;ENSP00000385040:L69I;ENSP00000398573:L69I;ENSP00000396816:L69I;ENSP00000403435:L69I	ENSP00000263246:L69I	L	-	1	0	PACSIN2	41619419	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	6.293000	0.72731	2.784000	0.95788	0.551000	0.68910	CTC	PACSIN2	-	pfam_FCH,smart_FCH,pfscan_FCH		0.672	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN2	HGNC	protein_coding	OTTHUMT00000319665.1	G	NM_007229		43289475	-1	no_errors	ENST00000263246	ensembl	human	known	70_37	missense	SNP	1.000	T
PANK3	79646	genome.wustl.edu	37	5	167995799	167995799	+	Missense_Mutation	SNP	C	C	T	rs376150396		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:167995799C>T	ENST00000239231.6	-	2	549	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	78					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.R78Q(1)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GTTCCCTCTTCGGCCAAAAAG	0.413																																																	1	Substitution - Missense(1)	cervix(1)						C	GLN/ARG	0,4406		0,0,2203	121.0	119.0	120.0		233	4.9	1.0	5		120	2,8594	2.2+/-6.3	0,2,4296	no	missense	PANK3	NM_024594.3	43	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	78/371	167995799	2,13000	2203	4298	6501	SO:0001583	missense	79646			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.233G>A	5.37:g.167995799C>T	ENSP00000239231:p.Arg78Gln		D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.R78Q	ENST00000239231.6	37	c.233	CCDS4368.1	5	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486454	0.63962	0.0	2.33E-4	ENSG00000120137	ENST00000239231;ENST00000522176	D;D	0.99503	-6.03;-6.03	5.81	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.97359	0.9136	L	0.38733	1.17	0.58432	D	0.999992	P	0.37914	0.611	B	0.27262	0.078	D	0.97960	1.0337	10	0.26408	T	0.33	-9.8197	14.2912	0.66278	0.0:0.9292:0.0:0.0708	.	78	Q9H999	PANK3_HUMAN	Q	78;63	ENSP00000239231:R78Q;ENSP00000428631:R63Q	ENSP00000239231:R78Q	R	-	2	0	PANK3	167928377	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.097000	0.71452	1.467000	0.48044	-0.123000	0.14984	CGA	PANK3	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK		0.413	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK3	HGNC	protein_coding	OTTHUMT00000252793.2	C	NM_024594		167995799	-1	no_errors	ENST00000239231	ensembl	human	known	70_37	missense	SNP	1.000	T
PANK4	55229	genome.wustl.edu	37	1	2445807	2445807	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:2445807C>T	ENST00000378466.3	-	11	1485	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L	PANK4_ENST00000435556.3_Silent_p.L452L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	491					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.L491L(1)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCTGCTGCCTCAGGGTCTGAA	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											69.0	73.0	72.0					1																	2445807		2203	4300	6503	SO:0001819	synonymous_variant	55229			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1473G>A	1.37:g.2445807C>T			B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.L491	ENST00000378466.3	37	c.1473	CCDS42.1	1																																																																																			PANK4	-	superfamily_DUF89,pirsf_PanK_long		0.607	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	C			2445807	-1	no_errors	ENST00000378466	ensembl	human	known	70_37	silent	SNP	0.031	T
PANK4	55229	genome.wustl.edu	37	1	2453349	2453349	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:2453349G>A	ENST00000378466.3	-	2	137				PANK4_ENST00000435556.3_Intron|PANK4_ENST00000491212.1_Intron	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4						coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTCTGTAGATGAGGGGTTTGG	0.507																																																	0																																										SO:0001627	intron_variant	55229			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.125-110C>T	1.37:g.2453349G>A			B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	NULL	p.L52	ENST00000378466.3	37	c.156	CCDS42.1	1																																																																																			PANK4	-	NULL		0.507	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	G			2453349	-1	no_errors	ENST00000502770	ensembl	human	known	70_37	silent	SNP	0.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176525786	176525786	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:176525786G>C	ENST00000367662.3	+	2	1492	c.328G>C	c.(328-330)Gac>Cac	p.D110H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D110H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	110					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D110H(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTTCCCCCAGACCTGACTGA	0.557																																																	2	Substitution - Missense(2)	cervix(2)											116.0	112.0	113.0					1																	176525786		2021	4173	6194	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.328G>C	1.37:g.176525786G>C	ENSP00000356634:p.Asp110His		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D110H	ENST00000367662.3	37	c.328	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471390	0.26423	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.40476	4.26;1.03	4.0	-0.645	0.11475	.	0.967268	0.08416	N	0.949120	T	0.35566	0.0936	L	0.60455	1.87	0.09310	N	1	B;B	0.15141	0.005;0.012	B;B	0.12837	0.003;0.008	T	0.43081	-0.9413	10	0.87932	D	0	-8.9159	4.3004	0.10922	0.2269:0.3684:0.4047:0.0	.	110;110	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	H	110	ENSP00000356634:D110H;ENSP00000356633:D110H	ENSP00000356633:D110H	D	+	1	0	PAPPA2	174792409	0.018000	0.18449	0.050000	0.19076	0.076000	0.17211	0.591000	0.23969	0.153000	0.19213	0.561000	0.74099	GAC	PAPPA2	-	NULL		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	G			176525786	+1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	0.001	C
PAPPA2	60676	genome.wustl.edu	37	1	176664908	176664908	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:176664908G>A	ENST00000367662.3	+	7	3823	c.2659G>A	c.(2659-2661)Gat>Aat	p.D887N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	887					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D887N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGCACTGAAGATGGGACCTT	0.542																																																	1	Substitution - Missense(1)	cervix(1)											91.0	93.0	92.0					1																	176664908		2086	4230	6316	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2659G>A	1.37:g.176664908G>A	ENSP00000356634:p.Asp887Asn		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D887N	ENST00000367662.3	37	c.2659	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011575	0.75046	.	.	ENSG00000116183	ENST00000367662	T	0.01854	4.6	5.51	5.51	0.81932	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.04497	0.0123	L	0.48362	1.52	0.80722	D	1	P	0.36027	0.533	B	0.39379	0.298	T	0.54938	-0.8218	10	0.33940	T	0.23	-14.2351	19.0259	0.92931	0.0:0.0:1.0:0.0	.	887	Q9BXP8	PAPP2_HUMAN	N	887	ENSP00000356634:D887N	ENSP00000356634:D887N	D	+	1	0	PAPPA2	174931531	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.809000	0.86057	2.595000	0.87683	0.563000	0.77884	GAT	PAPPA2	-	superfamily_Fibronectin_type3		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	G			176664908	+1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176671814	176671814	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:176671814C>T	ENST00000367662.3	+	9	4472	c.3308C>T	c.(3307-3309)tCg>tTg	p.S1103L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1103					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1103L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGAAGCTTCGCCTCCTCTG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											97.0	95.0	96.0					1																	176671814		1968	4152	6120	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3308C>T	1.37:g.176671814C>T	ENSP00000356634:p.Ser1103Leu		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.S1103L	ENST00000367662.3	37	c.3308	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.094400	0.94149	.	.	ENSG00000116183	ENST00000367662	T	0.54279	0.58	5.26	5.26	0.73747	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80065	-0.1538	10	0.87932	D	0	-11.7063	18.4543	0.90714	0.0:1.0:0.0:0.0	.	1103	Q9BXP8	PAPP2_HUMAN	L	1103	ENSP00000356634:S1103L	ENSP00000356634:S1103L	S	+	2	0	PAPPA2	174938437	1.000000	0.71417	0.987000	0.45799	0.927000	0.56198	7.095000	0.76952	2.444000	0.82710	0.563000	0.77884	TCG	PAPPA2	-	superfamily_Fibronectin_type3		0.493	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	C			176671814	+1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	1.000	T
PARP14	54625	genome.wustl.edu	37	3	122432391	122432391	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:122432391C>G	ENST00000474629.2	+	10	4006	c.3740C>G	c.(3739-3741)tCa>tGa	p.S1247*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1247	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S1084*(1)|p.S1247*(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATTGTAAATTCAACATCAAAC	0.398																																																	2	Substitution - Nonsense(2)	cervix(2)											92.0	87.0	89.0					3																	122432391		1884	4113	5997	SO:0001587	stop_gained	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3740C>G	3.37:g.122432391C>G	ENSP00000418194:p.Ser1247*		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S1247*	ENST00000474629.2	37	c.3740	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.006407	0.97998	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	.	.	.	5.25	5.25	0.73442	.	0.227950	0.30293	N	0.009947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	16.3956	0.83604	0.0:1.0:0.0:0.0	.	.	.	.	X	1247;1166;243	.	ENSP00000381224:S243X	S	+	2	0	PARP14	123915081	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	4.532000	0.60608	2.749000	0.94314	0.655000	0.94253	TCA	PARP14	-	pfam_A1pp,smart_A1pp,pfscan_A1pp		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	C	NM_017554		122432391	+1	no_errors	ENST00000474629	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PCDH15	65217	genome.wustl.edu	37	10	55698580	55698580	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:55698580G>C	ENST00000320301.6	-	25	3762	c.3368C>G	c.(3367-3369)tCa>tGa	p.S1123*	PCDH15_ENST00000409834.1_Nonsense_Mutation_p.S734*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.S1130*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.S1123*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.S1101*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.S1123*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.S1052*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.S1130*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.S1086*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.S1128*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.S1123*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1123	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.S1123*(2)|p.S1128*(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTACTTTTTGAAGGAACTCG	0.378										HNSCC(58;0.16)																																							4	Substitution - Nonsense(4)	cervix(4)											95.0	89.0	91.0					10																	55698580		2203	4300	6503	SO:0001587	stop_gained	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3368C>G	10.37:g.55698580G>C	ENSP00000322604:p.Ser1123*		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1123*	ENST00000320301.6	37	c.3368	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.373509	0.99662	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.7695	0.91885	0.0:0.0:1.0:0.0	.	.	.	.	X	1130;1128;1123;1123;734;1130;1086;1123;1101;1123;1123;1128;1052	.	ENSP00000322604:S1123X	S	-	2	0	PCDH15	55368586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.990000	0.93510	2.729000	0.93468	0.655000	0.94253	TCA	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	G	NM_033056		55698580	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	nonsense	SNP	1.000	C
PCDH15	65217	genome.wustl.edu	37	10	55955586	55955586	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:55955586C>T	ENST00000320301.6	-	11	1556	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.E388K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.E388K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E388K|PCDH15_ENST00000395440.1_Missense_Mutation_p.E388K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E366K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E366K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E388K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E388K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E388K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E351K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E393K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E388K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E388K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	388	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.E393K(2)|p.E388K(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGATTGTTTTCATCCAGTATT	0.388										HNSCC(58;0.16)																																							4	Substitution - Missense(4)	cervix(4)											139.0	132.0	134.0					10																	55955586		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1162G>A	10.37:g.55955586C>T	ENSP00000322604:p.Glu388Lys		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E388K	ENST00000320301.6	37	c.1162	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195783	0.78902	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58940	0.49;0.54;0.46;0.47;0.4;0.59;0.44;0.37;0.45;0.3;0.38;0.38;0.44;0.55	5.17	4.27	0.50696	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.68997	0.3062	M	0.79258	2.445	0.35979	D	0.83588	D;P;P;B;P;P;D;P;P;P;B;P;P;P;P	0.53151	0.958;0.864;0.749;0.103;0.845;0.919;0.958;0.491;0.761;0.599;0.365;0.85;0.538;0.85;0.864	P;B;B;B;P;P;P;B;B;B;B;P;P;P;B	0.53722	0.733;0.407;0.284;0.065;0.665;0.507;0.733;0.196;0.354;0.354;0.128;0.507;0.492;0.507;0.354	T	0.78513	-0.2175	9	0.54805	T	0.06	.	13.3033	0.60338	0.0:0.9222:0.0:0.0778	.	366;388;388;393;388;351;388;388;388;388;388;393;388;366;388	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	388;393;388;388;388;388;388;351;388;366;366;388;388;393;388;388	ENSP00000363076:E388K;ENSP00000410304:E393K;ENSP00000378826:E388K;ENSP00000378832:E388K;ENSP00000378833:E388K;ENSP00000378827:E388K;ENSP00000378820:E351K;ENSP00000354950:E388K;ENSP00000378821:E366K;ENSP00000363068:E366K;ENSP00000322604:E388K;ENSP00000378818:E388K;ENSP00000412628:E388K;ENSP00000363066:E388K	ENSP00000322604:E388K	E	-	1	0	PCDH15	55625592	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.915000	0.63355	1.197000	0.43143	-0.229000	0.12294	GAA	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	C	NM_033056		55955586	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHA6	56142	genome.wustl.edu	37	5	140208780	140208780	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:140208780C>T	ENST00000529310.1	+	1	1218	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.V368V|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	368	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V368V(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTACTGTCATCGCCCTAA	0.493																																																	2	Substitution - coding silent(2)	cervix(2)											127.0	123.0	124.0					5																	140208780		2203	4297	6500	SO:0001819	synonymous_variant	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1104C>T	5.37:g.140208780C>T			O75283|Q9NRT8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V368	ENST00000529310.1	37	c.1104	CCDS47281.1	5																																																																																			PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.493	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	C	NM_018909		140208780	+1	no_errors	ENST00000529310	ensembl	human	known	70_37	silent	SNP	0.555	T
PCDHA10	56139	genome.wustl.edu	37	5	140236799	140236799	+	Missense_Mutation	SNP	C	C	T	rs193920994		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:140236799C>T	ENST00000307360.5	+	1	1166	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.T389M|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T389M(6)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCTCTGACGCCTCACGTT	0.552																																																	6	Substitution - Missense(6)	cervix(2)|large_intestine(2)|lung(2)											150.0	130.0	137.0					5																	140236799		2196	4275	6471	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1166C>T	5.37:g.140236799C>T	ENSP00000304234:p.Thr389Met		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T389M	ENST00000307360.5	37	c.1166	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	1.826	-0.470985	0.04445	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.53206	4.6;0.63	4.0	0.86	0.19042	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29783	0.0744	L	0.39020	1.185	0.09310	N	1	P;P;B	0.46512	0.879;0.83;0.029	B;B;B	0.37239	0.244;0.16;0.04	T	0.12630	-1.0540	9	0.38643	T	0.18	.	4.5978	0.12338	0.1216:0.562:0.2188:0.0975	.	389;389;389	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	M	389	ENSP00000421030:T389M;ENSP00000304234:T389M	ENSP00000304234:T389M	T	+	2	0	PCDHA10	140216983	0.000000	0.05858	0.000000	0.03702	0.577000	0.36160	-3.952000	0.00327	0.414000	0.25790	-0.291000	0.09656	ACG	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.552	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	C	NM_018901		140236799	+1	no_errors	ENST00000307360	ensembl	human	known	70_37	missense	SNP	0.000	T
PCDHB6	56130	genome.wustl.edu	37	5	140530688	140530688	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:140530688G>A	ENST00000231136.1	+	1	850	c.850G>A	c.(850-852)Gat>Aat	p.D284N	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D148N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	284	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)	p.D284N(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCAAGTCGATGACGTCAA	0.468																																																	1	Substitution - Missense(1)	cervix(1)											89.0	93.0	92.0					5																	140530688		2203	4300	6503	SO:0001583	missense	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.850G>A	5.37:g.140530688G>A	ENSP00000231136:p.Asp284Asn		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D284N	ENST00000231136.1	37	c.850	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	G	9.604	1.129557	0.21041	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.03468	3.92;3.92	4.85	2.94	0.34122	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03564	0.0102	L	0.32530	0.975	0.09310	N	1	B	0.24368	0.102	B	0.20767	0.031	T	0.37865	-0.9687	9	0.49607	T	0.09	.	7.1634	0.25677	0.1568:0.1411:0.7021:0.0	.	284	Q9Y5E3	PCDB6_HUMAN	N	148;284;69	ENSP00000438466:D148N;ENSP00000231136:D284N	ENSP00000231136:D284N	D	+	1	0	PCDHB6	140510872	0.005000	0.15991	0.848000	0.33437	0.438000	0.31896	0.661000	0.25023	1.162000	0.42619	0.561000	0.74099	GAT	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.468	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	G	NM_018939		140530688	+1	no_errors	ENST00000231136	ensembl	human	known	70_37	missense	SNP	0.009	A
PCDHGA3	56112	genome.wustl.edu	37	5	140723925	140723925	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:140723925C>T	ENST00000253812.6	+	1	325	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	109	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)	p.L109L(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTAACATTCTGGTTGAGGA	0.403																																																	1	Substitution - coding silent(1)	cervix(1)											28.0	31.0	30.0					5																	140723925		1986	4207	6193	SO:0001819	synonymous_variant	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.325C>T	5.37:g.140723925C>T			Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L109	ENST00000253812.6	37	c.325	CCDS47290.1	5																																																																																			PCDHGA3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	C	NM_018916		140723925	+1	no_errors	ENST00000253812	ensembl	human	known	70_37	silent	SNP	0.133	T
PCLO	27445	genome.wustl.edu	37	7	82545961	82545961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:82545961G>A	ENST00000333891.9	-	7	11678	c.11341C>T	c.(11341-11343)Cga>Tga	p.R3781*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.R501*|PCLO_ENST00000423517.2_Nonsense_Mutation_p.R3781*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R3781*(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTTCTTTCGAAGTTTTGCA	0.443																																																	2	Substitution - Nonsense(2)	cervix(2)											126.0	113.0	117.0					7																	82545961		1904	4134	6038	SO:0001587	stop_gained	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11341C>T	7.37:g.82545961G>A	ENSP00000334319:p.Arg3781*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.R3781*	ENST00000333891.9	37	c.11341	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324827	0.81580	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	6.04	0.584	0.17422	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.497	0.87720	0.0:0.0:0.6521:0.3479	.	.	.	.	X	3781;3781;501	.	ENSP00000334319:R3781X	R	-	1	2	PCLO	82383897	0.976000	0.34144	0.808000	0.32385	0.966000	0.64601	1.593000	0.36686	0.140000	0.18849	-0.375000	0.07067	CGA	PCLO	-	NULL		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82545961	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	nonsense	SNP	0.768	A
PCLO	27445	genome.wustl.edu	37	7	82583425	82583425	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:82583425C>T	ENST00000333891.9	-	5	7181	c.6844G>A	c.(6844-6846)Gaa>Aaa	p.E2282K	PCLO_ENST00000423517.2_Missense_Mutation_p.E2282K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E2282K(2)|p.E2213K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGGCCCTTCAGGTTTAGGT	0.423																																																	3	Substitution - Missense(3)	cervix(3)											102.0	100.0	101.0					7																	82583425		1875	4119	5994	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6844G>A	7.37:g.82583425C>T	ENSP00000334319:p.Glu2282Lys			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.E2282K	ENST00000333891.9	37	c.6844	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	5.759	0.324474	0.10900	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15487	2.42;2.42	5.59	2.41	0.29592	.	.	.	.	.	T	0.10465	0.0256	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.25502	-1.0130	9	0.87932	D	0	.	6.8557	0.24040	0.0:0.5784:0.0:0.4216	.	2282;2282	Q9Y6V0-5;Q9Y6V0-6	.;.	K	2213;2282;2282	ENSP00000334319:E2282K;ENSP00000388393:E2282K	ENSP00000334319:E2282K	E	-	1	0	PCLO	82421361	0.005000	0.15991	0.011000	0.14972	0.123000	0.20343	0.662000	0.25038	0.727000	0.32360	0.603000	0.83216	GAA	PCLO	-	NULL		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82583425	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.003	T
PCLO	27445	genome.wustl.edu	37	7	82583502	82583502	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:82583502C>T	ENST00000333891.9	-	5	7104	c.6767G>A	c.(6766-6768)aGa>aAa	p.R2256K	PCLO_ENST00000423517.2_Missense_Mutation_p.R2256K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R2256K(2)|p.R2187K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCACTAGCTCTACCATCTGG	0.393																																																	3	Substitution - Missense(3)	cervix(3)											76.0	73.0	74.0					7																	82583502		1872	4096	5968	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6767G>A	7.37:g.82583502C>T	ENSP00000334319:p.Arg2256Lys			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.R2256K	ENST00000333891.9	37	c.6767	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	8.743	0.919362	0.17982	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15256	2.44;2.44	5.7	3.58	0.41010	.	.	.	.	.	T	0.13157	0.0319	L	0.44542	1.39	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.28267	-1.0049	9	0.87932	D	0	.	1.7564	0.02983	0.1995:0.4515:0.1231:0.2259	.	2256;2256	Q9Y6V0-5;Q9Y6V0-6	.;.	K	2187;2256;2256	ENSP00000334319:R2256K;ENSP00000388393:R2256K	ENSP00000334319:R2256K	R	-	2	0	PCLO	82421438	0.000000	0.05858	0.163000	0.22734	0.608000	0.37181	0.424000	0.21330	1.414000	0.47017	0.603000	0.83216	AGA	PCLO	-	NULL		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82583502	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.000	T
PCLO	27445	genome.wustl.edu	37	7	82583509	82583509	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:82583509C>T	ENST00000333891.9	-	5	7097	c.6760G>A	c.(6760-6762)Gat>Aat	p.D2254N	PCLO_ENST00000423517.2_Missense_Mutation_p.D2254N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.D2254N(2)|p.D2185N(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTCTACCATCTGGTGGGGCA	0.388																																																	3	Substitution - Missense(3)	cervix(3)											73.0	71.0	71.0					7																	82583509		1867	4093	5960	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6760G>A	7.37:g.82583509C>T	ENSP00000334319:p.Asp2254Asn			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.D2254N	ENST00000333891.9	37	c.6760	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	7.938	0.742113	0.15642	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15952	2.38;2.38	5.7	4.8	0.61643	.	.	.	.	.	T	0.12347	0.0300	N	0.22421	0.69	0.09310	N	1	B;B	0.30973	0.302;0.302	B;B	0.33620	0.109;0.167	T	0.12604	-1.0541	9	0.87932	D	0	.	5.7004	0.17879	0.1293:0.6293:0.159:0.0824	.	2254;2254	Q9Y6V0-5;Q9Y6V0-6	.;.	N	2185;2254;2254	ENSP00000334319:D2254N;ENSP00000388393:D2254N	ENSP00000334319:D2254N	D	-	1	0	PCLO	82421445	0.000000	0.05858	0.534000	0.28014	0.449000	0.32228	0.323000	0.19593	2.690000	0.91761	0.603000	0.83216	GAT	PCLO	-	NULL		0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82583509	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.000	T
PCLO	27445	genome.wustl.edu	37	7	82764504	82764504	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:82764504C>T	ENST00000333891.9	-	3	2699	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	PCLO_ENST00000423517.2_Missense_Mutation_p.E788K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E788K(2)|p.E734K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTTCTCTTCAGCTTGTGAC	0.438																																																	3	Substitution - Missense(3)	cervix(3)											237.0	211.0	219.0					7																	82764504		1888	4127	6015	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2362G>A	7.37:g.82764504C>T	ENSP00000334319:p.Glu788Lys			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.E788K	ENST00000333891.9	37	c.2362	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	3.631	-0.075567	0.07184	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.82	2.92	0.33932	.	.	.	.	.	T	0.09818	0.0241	N	0.08118	0	0.38256	D	0.941755	B;B	0.16396	0.017;0.017	B;B	0.10450	0.005;0.005	T	0.11817	-1.0572	9	0.87932	D	0	.	12.008	0.53270	0.0:0.3825:0.494:0.1235	.	788;788	Q9Y6V0-5;Q9Y6V0-6	.;.	K	734;788;788	ENSP00000334319:E788K;ENSP00000388393:E788K	ENSP00000334319:E788K	E	-	1	0	PCLO	82602440	0.347000	0.24853	0.912000	0.35992	0.073000	0.16967	1.527000	0.35975	0.321000	0.23259	-0.353000	0.07706	GAA	PCLO	-	NULL		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82764504	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.600	T
PCNXL2	80003	genome.wustl.edu	37	1	233394913	233394913	+	Missense_Mutation	SNP	C	C	A	rs571746720		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:233394913C>A	ENST00000258229.9	-	5	929	c.695G>T	c.(694-696)gGa>gTa	p.G232V	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	232						integral component of membrane (GO:0016021)		p.G232V(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCCTTGCCTCCTCTTTCCTT	0.507																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|cervix(1)											114.0	117.0	116.0					1																	233394913		1946	4147	6093	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.695G>T	1.37:g.233394913C>A	ENSP00000258229:p.Gly232Val		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.G232V	ENST00000258229.9	37	c.695	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452981	0.63290	.	.	ENSG00000135749	ENST00000258229	T	0.62788	0.0	4.27	0.205	0.15204	.	.	.	.	.	T	0.50137	0.1598	L	0.27053	0.805	0.20196	N	0.999927	D	0.54047	0.964	P	0.46629	0.522	T	0.42682	-0.9437	9	0.62326	D	0.03	.	7.8036	0.29189	0.0:0.5578:0.0:0.4422	.	232	A6NKB5	PCX2_HUMAN	V	232	ENSP00000258229:G232V	ENSP00000258229:G232V	G	-	2	0	PCNXL2	231461536	0.000000	0.05858	0.000000	0.03702	0.732000	0.41865	-0.357000	0.07651	-0.048000	0.13401	0.555000	0.69702	GGA	PCNXL2	-	NULL		0.507	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	C	NM_014801		233394913	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	0.001	A
PCSK6	5046	genome.wustl.edu	37	15	101971654	101971654	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:101971654C>G	ENST00000348070.1	-	5	524	c.525G>C	c.(523-525)aaG>aaC	p.K175N	PCSK6_ENST00000358417.3_Missense_Mutation_p.K175N|PCSK6_ENST00000331826.7_Missense_Mutation_p.K10N|PCSK6_ENST00000398181.2_Missense_Mutation_p.K175N|PCSK6_ENST00000344273.2_Missense_Mutation_p.K175N|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	176					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.K175N(3)|p.K10N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCGACTGTTCTTGTCGCCAC	0.547																																																	4	Substitution - Missense(4)	cervix(4)											59.0	60.0	60.0					15																	101971654		2111	4234	6345	SO:0001583	missense	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.525G>C	15.37:g.101971654C>G	ENSP00000305056:p.Lys175Asn		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.K175N	ENST00000348070.1	37	c.525		15	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156319	0.38021	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.70282	0.97;0.97;0.97;0.97;-0.47	5.67	3.78	0.43462	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.114831	0.56097	D	0.000039	T	0.37625	0.1010	N	0.01019	-1.045	0.32208	N	0.57696	P;B;B;B;B;B;P;B;B	0.36282	0.546;0.361;0.0;0.008;0.001;0.004;0.493;0.007;0.007	B;B;B;B;B;B;B;B;B	0.39379	0.136;0.156;0.002;0.006;0.002;0.002;0.298;0.013;0.004	T	0.51116	-0.8746	10	0.07813	T	0.8	-28.3246	9.2734	0.37686	0.0:0.7162:0.0:0.2838	.	176;81;175;176;175;175;176;176;175	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	N	175;175;80;175;175;10	ENSP00000305056:K175N;ENSP00000351193:K175N;ENSP00000344410:K175N;ENSP00000381243:K175N;ENSP00000332052:K10N	ENSP00000332052:K10N	K	-	3	2	PCSK6	99789177	0.983000	0.35010	0.999000	0.59377	0.983000	0.72400	0.369000	0.20416	1.412000	0.46977	0.655000	0.94253	AAG	PCSK6	-	superfamily_Peptidase_S8/S53		0.547	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		C	NM_002570		101971654	-1	no_errors	ENST00000348070	ensembl	human	known	70_37	missense	SNP	0.893	G
PCYT1A	5130	genome.wustl.edu	37	3	195969477	195969477	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:195969477G>A	ENST00000292823.2	-	7	693	c.521C>T	c.(520-522)tCa>tTa	p.S174L	PCYT1A_ENST00000431016.1_Missense_Mutation_p.S174L|PCYT1A_ENST00000419333.1_Missense_Mutation_p.S174L	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	174					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)	p.S174L(1)		cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	GCCAGCAGATGAATAAGGAAT	0.428																																																	1	Substitution - Missense(1)	cervix(1)											106.0	98.0	101.0					3																	195969477		2203	4300	6503	SO:0001583	missense	5130			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.521C>T	3.37:g.195969477G>A	ENSP00000292823:p.Ser174Leu		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-like	p.S174L	ENST00000292823.2	37	c.521	CCDS3315.1	3	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808436	0.70797	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	D;D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85;-3.85	6.14	6.14	0.99180	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	N	0.25380	0.74	0.80722	D	1	B	0.24092	0.097	B	0.25140	0.058	D	0.87733	0.2580	10	0.40728	T	0.16	-19.4563	19.8479	0.96722	0.0:0.0:1.0:0.0	.	174	P49585	PCY1A_HUMAN	L	174;174;135;174;174;47;108	ENSP00000390968:S174L;ENSP00000292823:S174L;ENSP00000394617:S174L;ENSP00000400430:S174L;ENSP00000390458:S47L;ENSP00000402283:S108L	ENSP00000292823:S174L	S	-	2	0	PCYT1A	197453874	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.471000	0.97696	2.937000	0.99478	0.650000	0.86243	TCA	PCYT1A	-	pfam_Cytidylyltransf		0.428	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1A	HGNC	protein_coding	OTTHUMT00000341147.1	G	NM_005017		195969477	-1	no_errors	ENST00000292823	ensembl	human	known	70_37	missense	SNP	1.000	A
PDE6B	5158	genome.wustl.edu	37	4	647895	647895	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:647895G>C	ENST00000496514.1	+	5	900	c.879G>C	c.(877-879)ctG>ctC	p.L293L	PDE6B_ENST00000255622.6_Silent_p.L293L|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000599030.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000429163.2_Silent_p.L14L|RP11-1191J2.2_ENST00000598370.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	293	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.L293L(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GGTCTGTGCTGATGGGAGAGT	0.667																																					GBM(71;463 1194 9848 25922 46834)												1	Substitution - coding silent(1)	cervix(1)											56.0	60.0	59.0					4																	647895		2203	4299	6502	SO:0001819	synonymous_variant	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.879G>C	4.37:g.647895G>C			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.L293	ENST00000496514.1	37	c.879	CCDS33932.1	4																																																																																			PDE6B	-	pfam_GAF,smart_GAF		0.667	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	G	NM_000283		647895	+1	no_errors	ENST00000496514	ensembl	human	known	70_37	silent	SNP	0.990	C
PDS5A	23244	genome.wustl.edu	37	4	39905724	39905724	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:39905724C>G	ENST00000303538.8	-	12	1860	c.1321G>C	c.(1321-1323)Gag>Cag	p.E441Q	PDS5A_ENST00000503396.1_Missense_Mutation_p.E441Q	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.E441Q(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGACTTTCTCTGCAGCTTCC	0.383																																																	2	Substitution - Missense(2)	cervix(2)											83.0	75.0	77.0					4																	39905724		1862	4117	5979	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1321G>C	4.37:g.39905724C>G	ENSP00000303427:p.Glu441Gln			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E441Q	ENST00000303538.8	37	c.1321	CCDS47045.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.50|13.50	2.254849|2.254849	0.39896|0.39896	.|.	.|.	ENSG00000121892|ENSG00000121892	ENST00000303538;ENST00000503396|ENST00000513798	T|.	0.66815|.	-0.23|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Armadillo-type fold (1);|.	0.129336|.	0.51477|.	D|.	0.000100|.	T|T	0.50752|0.50752	0.1634|0.1634	N|N	0.14661|0.14661	0.345|0.345	0.40635|0.40635	D|D	0.981899|0.981899	B;B|.	0.16802|.	0.009;0.019|.	B;B|.	0.21360|.	0.008;0.034|.	T|T	0.48559|0.48559	-0.9025|-0.9025	9|5	.|.	.|.	.|.	-14.6652|-14.6652	18.7363|18.7363	0.91756|0.91756	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	441;441|.	Q29RF7-3;Q29RF7|.	.;PDS5A_HUMAN|.	Q|H	441|78	ENSP00000303427:E441Q|.	.|.	E|Q	-|-	1|3	0|2	PDS5A|PDS5A	39582119|39582119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.183000|2.183000	0.42565|0.42565	2.502000|2.502000	0.84385|0.84385	0.655000|0.655000	0.94253|0.94253	GAG|CAG	PDS5A	-	superfamily_ARM-type_fold		0.383	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	C	NM_015200		39905724	-1	no_errors	ENST00000303538	ensembl	human	known	70_37	missense	SNP	1.000	G
PDZD2	23037	genome.wustl.edu	37	5	32091059	32091059	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:32091059C>G	ENST00000438447.1	+	20	7893	c.7505C>G	c.(7504-7506)tCa>tGa	p.S2502*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.S2502*			O15018	PDZD2_HUMAN	PDZ domain containing 2	2502					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.S2502*(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGGATTACTCAGCAGGGCCG	0.637																																																	1	Substitution - Nonsense(1)	cervix(1)											57.0	56.0	56.0					5																	32091059		2203	4300	6503	SO:0001587	stop_gained	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7505C>G	5.37:g.32091059C>G	ENSP00000402033:p.Ser2502*		Q9BXD4	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S2502*	ENST00000438447.1	37	c.7505	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	49	15.627969	0.99840	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	5.32	3.52	0.40303	.	1.050670	0.07514	N	0.909474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.3664	0.38228	0.0:0.7746:0.1444:0.081	.	.	.	.	X	2502;2303;2502	.	ENSP00000282493:S2502X	S	+	2	0	PDZD2	32126816	0.012000	0.17670	0.002000	0.10522	0.625000	0.37756	2.592000	0.46171	0.604000	0.29930	0.561000	0.74099	TCA	PDZD2	-	NULL		0.637	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	C			32091059	+1	no_errors	ENST00000282493	ensembl	human	known	70_37	nonsense	SNP	0.031	G
PDZD3	79849	genome.wustl.edu	37	11	119059398	119059398	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:119059398C>T	ENST00000531114.1	+	7	1856	c.1307C>T	c.(1306-1308)tCg>tTg	p.S436L	PDZD3_ENST00000322712.4_Missense_Mutation_p.S356L|PDZD3_ENST00000392817.2_Missense_Mutation_p.S436L|PDZD3_ENST00000525131.1_Missense_Mutation_p.S357L|PDZD3_ENST00000355547.5_Missense_Mutation_p.S370L			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	436					cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)	p.S356L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GCTCCCGCCTCGCCCCGGGGC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											53.0	49.0	51.0					11																	119059398		2200	4295	6495	SO:0001583	missense	79849			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1307C>T	11.37:g.119059398C>T	ENSP00000431164:p.Ser436Leu		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S436L	ENST00000531114.1	37	c.1307		11	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008791	0.35415	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.73681	1.53;1.5;1.53;-0.77;1.5	5.21	3.23	0.37069	PDZ/DHR/GLGF (1);	1.844020	0.02672	N	0.108703	T	0.62048	0.2396	L	0.29908	0.895	0.09310	N	1	B;B;P;B	0.37781	0.261;0.267;0.608;0.414	B;B;B;B	0.30943	0.014;0.01;0.122;0.042	T	0.56589	-0.7954	10	0.40728	T	0.16	-0.8412	7.3671	0.26779	0.1673:0.7466:0.0:0.0861	.	357;436;370;356	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	L	357;436;370;356;370;436	ENSP00000434559:S357L;ENSP00000431164:S436L;ENSP00000347742:S370L;ENSP00000327107:S356L;ENSP00000376564:S436L	ENSP00000327107:S356L	S	+	2	0	PDZD3	118564608	0.000000	0.05858	0.013000	0.15412	0.030000	0.12068	0.309000	0.19332	2.444000	0.82710	0.655000	0.94253	TCG	PDZD3	-	superfamily_PDZ		0.612	PDZD3-004	KNOWN	basic	protein_coding	PDZD3	HGNC	protein_coding	OTTHUMT00000388471.1	C	NM_024791		119059398	+1	no_errors	ENST00000392817	ensembl	human	known	70_37	missense	SNP	0.003	T
PDZD4	57595	genome.wustl.edu	37	X	153072748	153072748	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:153072748C>T	ENST00000164640.4	-	3	564	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_Missense_Mutation_p.E50K|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	125						cytoplasm (GO:0005737)		p.E125K(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACTCCAGCTCATCCAAGCGG	0.687																																																	1	Substitution - Missense(1)	cervix(1)											23.0	21.0	22.0					X																	153072748		2199	4295	6494	SO:0001583	missense	57595			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.373G>A	X.37:g.153072748C>T	ENSP00000164640:p.Glu125Lys		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E125K	ENST00000164640.4	37	c.373	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.219064	0.95104	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	PDZ/DHR/GLGF (1);	0.118977	0.56097	D	0.000025	T	0.60170	0.2248	M	0.61703	1.905	0.58432	D	0.999999	D;D;D;D	0.69078	0.993;0.996;0.997;0.986	P;P;P;P	0.62382	0.901;0.837;0.877;0.901	T	0.59386	-0.7464	10	0.45353	T	0.12	-33.5773	17.3686	0.87370	0.0:1.0:0.0:0.0	.	131;125;50;29	Q17RL8;Q76G19;D3DWW0;B3KVR9	.;PDZD4_HUMAN;.;.	K	125;50;29	ENSP00000164640:E125K;ENSP00000377355:E50K	ENSP00000164640:E125K	E	-	1	0	PDZD4	152725942	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.291000	0.65667	2.369000	0.80426	0.600000	0.82982	GAG	PDZD4	-	superfamily_PDZ		0.687	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	C	NM_032512		153072748	-1	no_errors	ENST00000164640	ensembl	human	known	70_37	missense	SNP	1.000	T
PELO	53918	genome.wustl.edu	37	5	52097658	52097658	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:52097658G>C	ENST00000274311.2	+	3	2127	c.1142G>C	c.(1141-1143)aGt>aCt	p.S381T	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	381					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.S381T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGTGATTCCAGTTCTGAAGAG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											44.0	47.0	46.0					5																	52097658		2203	4300	6503	SO:0001583	missense	53918				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.1142G>C	5.37:g.52097658G>C	ENSP00000274311:p.Ser381Thr		Q9GZS6|Q9Y306	Missense_Mutation	SNP	pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	p.S381T	ENST00000274311.2	37	c.1142	CCDS3956.1	5	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252645	0.59212	.	.	ENSG00000152684	ENST00000274311	T	0.44083	0.93	5.86	5.86	0.93980	.	0.050431	0.85682	U	0.000000	T	0.62392	0.2424	M	0.66297	2.02	0.80722	D	1	P	0.43392	0.805	P	0.57776	0.827	T	0.55792	-0.8085	10	0.40728	T	0.16	-4.6466	19.798	0.96494	0.0:0.0:1.0:0.0	.	381	Q9BRX2	PELO_HUMAN	T	381	ENSP00000274311:S381T	ENSP00000274311:S381T	S	+	2	0	PELO	52133415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.765000	0.95021	0.655000	0.94253	AGT	PELO	-	NULL		0.448	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELO	HGNC	protein_coding	OTTHUMT00000214040.1	G	NM_015946		52097658	+1	no_errors	ENST00000274311	ensembl	human	known	70_37	missense	SNP	1.000	C
PER3	8863	genome.wustl.edu	37	1	7895914	7895914	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:7895914G>C	ENST00000361923.2	+	19	3455	c.3280G>C	c.(3280-3282)Gaa>Caa	p.E1094Q	PER3_ENST00000377532.3_Missense_Mutation_p.E1103Q	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1094					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.E1094Q(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGAAAAAAGAAACATTTCC	0.438																																																	1	Substitution - Missense(1)	cervix(1)											95.0	90.0	92.0					1																	7895914		2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3280G>C	1.37:g.7895914G>C	ENSP00000355031:p.Glu1094Gln		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.E1094Q	ENST00000361923.2	37	c.3280	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584057	0.28268	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.13420	2.59;2.59	3.99	1.03	0.20045	Period circadian-like, C-terminal (1);	1.056690	0.07304	N	0.874622	T	0.28566	0.0707	L	0.50333	1.59	0.09310	N	1	D;P;P	0.76494	0.999;0.926;0.94	D;P;P	0.74674	0.984;0.7;0.801	T	0.21759	-1.0236	10	0.42905	T	0.14	.	8.0528	0.30587	0.2064:0.0:0.7936:0.0	.	143;1103;1094	B4DR65;P56645-2;P56645	.;.;PER3_HUMAN	Q	1103;1094;287	ENSP00000366755:E1103Q;ENSP00000355031:E1094Q	ENSP00000355031:E1094Q	E	+	1	0	PER3	7818501	0.004000	0.15560	0.000000	0.03702	0.385000	0.30292	1.382000	0.34374	0.031000	0.15407	0.563000	0.77884	GAA	PER3	-	pfam_Period_circadian-like_C		0.438	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	G	NM_016831		7895914	+1	no_errors	ENST00000361923	ensembl	human	known	70_37	missense	SNP	0.001	C
PERP	64065	genome.wustl.edu	37	6	138428294	138428294	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:138428294C>T	ENST00000421351.3	-	1	354	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	62					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)		p.E62K(1)		breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CAGCCCTCCTCGTAGGACCCG	0.726																																																	1	Substitution - Missense(1)	cervix(1)											29.0	36.0	33.0					6																	138428294		2194	4286	6480	SO:0001583	missense	64065			AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"""keratinocyte associated protein 1"""	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.184G>A	6.37:g.138428294C>T	ENSP00000397157:p.Glu62Lys		B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.E62K	ENST00000421351.3	37	c.184	CCDS5188.1	6	.	.	.	.	.	.	.	.	.	.	c	5.491	0.275638	0.10403	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.87029	-2.2	4.43	4.43	0.53597	.	2.783770	0.01168	N	0.006807	T	0.71134	0.3304	L	0.40543	1.245	0.09310	N	1	B	0.20988	0.05	B	0.17433	0.018	T	0.58869	-0.7560	10	0.24483	T	0.36	-1.7024	8.4723	0.32993	0.0:0.8904:0.0:0.1096	.	62	Q96FX8	PERP_HUMAN	K	62;44	ENSP00000397157:E62K	ENSP00000265603:E44K	E	-	1	0	PERP	138469987	0.022000	0.18835	0.003000	0.11579	0.058000	0.15608	1.536000	0.36072	1.998000	0.58463	0.556000	0.70494	GAG	PERP	-	pfam_PMP22/EMP/MP20/Claudin		0.726	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PERP	HGNC	protein_coding	OTTHUMT00000042423.2	C	NM_022121		138428294	-1	no_errors	ENST00000421351	ensembl	human	known	70_37	missense	SNP	0.007	T
PFKL	5211	genome.wustl.edu	37	21	45736150	45736150	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:45736150G>A	ENST00000349048.4	+	8	826	c.771G>A	c.(769-771)ctG>ctA	p.L257L	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Silent_p.L304L	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	257	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.L304L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGTCCCGACTGAACATCATCA	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											126.0	95.0	105.0					21																	45736150		2203	4298	6501	SO:0001819	synonymous_variant	5211				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.771G>A	21.37:g.45736150G>A			Q96A64|Q96IH4|Q9BR91	Silent	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.L304	ENST00000349048.4	37	c.912	CCDS33582.1	21																																																																																			PFKL	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk		0.652	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	HGNC	protein_coding	OTTHUMT00000195805.1	G			45736150	+1	no_errors	ENST00000403390	ensembl	human	known	70_37	silent	SNP	0.984	A
PGD	5226	genome.wustl.edu	37	1	10464329	10464329	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:10464329G>C	ENST00000270776.8	+	5	480	c.442G>C	c.(442-444)Gaa>Caa	p.E148Q	PGD_ENST00000541529.1_Missense_Mutation_p.E126Q|PGD_ENST00000538557.1_Missense_Mutation_p.E135Q	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	148					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.E148Q(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	AGGGAACAAAGAAGCGTGGTG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											71.0	67.0	68.0					1																	10464329		2203	4300	6503	SO:0001583	missense	5226			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.442G>C	1.37:g.10464329G>C	ENSP00000270776:p.Glu148Gln		A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox	p.E148Q	ENST00000270776.8	37	c.442	CCDS113.1	1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438832	0.43326	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.51325	0.71;0.74;0.75	5.0	5.0	0.66597	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.214581	0.48767	D	0.000170	T	0.46347	0.1388	L	0.58583	1.82	0.58432	D	0.999995	B;B	0.06786	0.001;0.0	B;B	0.12837	0.004;0.008	T	0.45760	-0.9239	10	0.62326	D	0.03	-26.6876	14.3092	0.66405	0.0:0.1484:0.8516:0.0	.	126;148	F5H7U0;P52209	.;6PGD_HUMAN	Q	126;94;148;135	ENSP00000442285:E126Q;ENSP00000270776:E148Q;ENSP00000437822:E135Q	ENSP00000270776:E148Q	E	+	1	0	PGD	10386916	1.000000	0.71417	0.505000	0.27651	0.361000	0.29550	6.638000	0.74309	2.479000	0.83701	0.561000	0.74099	GAA	PGD	-	pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox		0.557	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGD	HGNC	protein_coding	OTTHUMT00000005398.1	G	NM_002631		10464329	+1	no_errors	ENST00000270776	ensembl	human	known	70_37	missense	SNP	1.000	C
PGBD5	79605	genome.wustl.edu	37	1	230492790	230492790	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:230492790C>T	ENST00000525115.1	-	2	425	c.402G>A	c.(400-402)atG>atA	p.M134I	PGBD5_ENST00000321327.2_Missense_Mutation_p.M233I|PGBD5_ENST00000391860.1_Missense_Mutation_p.M88I			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	134						integral component of membrane (GO:0016021)		p.M233I(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGGCCTGGCTCATGACGAGGG	0.622																																																	1	Substitution - Missense(1)	cervix(1)											91.0	78.0	82.0					1																	230492790		2203	4300	6503	SO:0001583	missense	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.402G>A	1.37:g.230492790C>T	ENSP00000431404:p.Met134Ile		A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.M233I	ENST00000525115.1	37	c.699		1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656626	0.88154	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.37915	1.17;1.17;1.17	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	L	0.32530	0.975	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	T	0.50833	-0.8781	10	0.72032	D	0.01	-59.592	20.5568	0.99304	0.0:1.0:0.0:0.0	.	134	Q8N414	PGBD5_HUMAN	I	88;233;134	ENSP00000375733:M88I;ENSP00000322530:M233I;ENSP00000431404:M134I	ENSP00000322530:M233I	M	-	3	0	PGBD5	228559413	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.802000	0.85969	2.861000	0.98227	0.655000	0.94253	ATG	PGBD5	-	NULL		0.622	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	C	NM_024554		230492790	-1	no_errors	ENST00000321327	ensembl	human	known	70_37	missense	SNP	1.000	T
PHACTR2	9749	genome.wustl.edu	37	6	144086865	144086865	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:144086865G>A	ENST00000427704.2	+	6	1259	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	PHACTR2_ENST00000367584.4_Missense_Mutation_p.E365K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E388K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.E297K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.E308K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	377							protein phosphatase inhibitor activity (GO:0004864)	p.E297K(1)|p.E388K(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCTTTGGGCTGAAGAGCCGAC	0.502																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												2	Substitution - Missense(2)	cervix(2)											87.0	85.0	86.0					6																	144086865		1949	4140	6089	SO:0001583	missense	9749			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1129G>A	6.37:g.144086865G>A	ENSP00000391763:p.Glu377Lys		A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.E388K	ENST00000427704.2	37	c.1162	CCDS47492.1	6	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504207	0.85176	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.35048	1.33;1.59;1.37;1.58;1.37	5.22	4.34	0.51931	.	0.722791	0.14154	N	0.337808	T	0.40886	0.1135	M	0.63843	1.955	0.80722	D	1	D;B;B;B	0.71674	0.998;0.06;0.06;0.036	D;B;B;B	0.78314	0.991;0.046;0.046;0.021	T	0.23297	-1.0192	10	0.32370	T	0.25	.	8.6674	0.34130	0.0802:0.1532:0.7666:0.0	.	388;297;308;377	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	K	365;377;297;388;308	ENSP00000356556:E365K;ENSP00000391763:E377K;ENSP00000305530:E297K;ENSP00000417038:E388K;ENSP00000356554:E308K	ENSP00000305530:E297K	E	+	1	0	PHACTR2	144128558	1.000000	0.71417	0.962000	0.40283	0.944000	0.59088	3.686000	0.54685	1.186000	0.42985	0.655000	0.94253	GAA	PHACTR2	-	NULL		0.502	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2	G	NM_014721		144086865	+1	no_errors	ENST00000440869	ensembl	human	known	70_37	missense	SNP	0.820	A
PHEX	5251	genome.wustl.edu	37	X	22051181	22051181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:22051181C>T	ENST00000379374.4	+	1	623	c.58C>T	c.(58-60)Cga>Tga	p.R20*	PHEX_ENST00000537599.1_Nonsense_Mutation_p.R20*	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	20					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R20*(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CAGAGGCACTCGAATTGCCCT	0.557																																																	1	Substitution - Nonsense(1)	cervix(1)	GRCh37	CM971148	PHEX	M							246.0	170.0	196.0					X																	22051181		2203	4300	6503	SO:0001587	stop_gained	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.58C>T	X.37:g.22051181C>T	ENSP00000368682:p.Arg20*		O00678|Q13646|Q2M325|Q93032|Q99827	Nonsense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R20*	ENST00000379374.4	37	c.58	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	C	38	7.277459	0.98182	.	.	ENSG00000102174	ENST00000379374;ENST00000537599	.	.	.	5.84	4.01	0.46588	.	0.350128	0.30193	N	0.010185	.	.	.	.	.	.	0.20975	N	0.999814	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8023	0.57593	0.2971:0.7029:0.0:0.0	.	.	.	.	X	20	.	ENSP00000368682:R20X	R	+	1	2	PHEX	21961102	0.451000	0.25705	0.017000	0.16124	0.023000	0.10783	1.667000	0.37471	0.555000	0.29079	0.594000	0.82650	CGA	PHEX	-	NULL		0.557	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	C	NM_000444		22051181	+1	no_errors	ENST00000379374	ensembl	human	known	70_37	nonsense	SNP	0.011	T
JADE2	23338	genome.wustl.edu	37	5	133909370	133909370	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:133909370G>C	ENST00000282605.4	+	10	1556	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D	PHF15_ENST00000402835.1_Intron|PHF15_ENST00000361895.2_Missense_Mutation_p.E490D|PHF15_ENST00000395003.1_Missense_Mutation_p.E490D														p.E490D(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAGGCGCGAGAGAACGAAAC	0.512																																																	1	Substitution - Missense(1)	cervix(1)											128.0	102.0	111.0					5																	133909370		2203	4300	6503	SO:0001583	missense	23338																														ENST00000282605.4:c.1470G>C	5.37:g.133909370G>C	ENSP00000282605:p.Glu490Asp			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E506D	ENST00000282605.4	37	c.1518		5	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265534	0.59431	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.67865	-0.29;-0.07;-0.08	5.51	1.85	0.25348	.	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	M	0.85777	2.775	0.53005	D	0.999962	P;P;P;D;P	0.89917	0.719;0.55;0.55;1.0;0.816	P;P;P;D;P	0.85130	0.488;0.571;0.571;0.997;0.571	T	0.79102	-0.1941	10	0.87932	D	0	.	8.9044	0.35515	0.3386:0.0:0.6614:0.0	.	490;490;490;490;506	B4DFY8;Q9NQC1;D3DQA3;Q9NQC1-3;B3KPL2	.;JADE2_HUMAN;.;.;.	D	490;506;490;490;490;490	ENSP00000282605:E490D;ENSP00000354425:E490D;ENSP00000378451:E490D	ENSP00000282605:E490D	E	+	3	2	PHF15	133937269	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.116000	0.41930	0.166000	0.19597	0.561000	0.74099	GAG	PHF15	-	NULL		0.512	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000251170.1	G			133909370	+1	no_errors	ENST00000448712	ensembl	human	known	70_37	missense	SNP	1.000	C
PHF3	23469	genome.wustl.edu	37	6	64395258	64395258	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:64395258C>G	ENST00000262043.3	+	4	1975	c.1635C>G	c.(1633-1635)gtC>gtG	p.V545V	PHF3_ENST00000393387.1_Silent_p.V545V|PHF3_ENST00000509330.1_Silent_p.V545V			Q92576	PHF3_HUMAN	PHD finger protein 3	545					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V545V(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAGGCCAGTCAAAGTCAGAA	0.328																																					GBM(135;136 1820 29512 34071 46235)												1	Substitution - coding silent(1)	cervix(1)											52.0	55.0	54.0					6																	64395258		2203	4298	6501	SO:0001819	synonymous_variant	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1635C>G	6.37:g.64395258C>G			A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.V545	ENST00000262043.3	37	c.1635	CCDS4966.1	6																																																																																			PHF3	-	NULL		0.328	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	C			64395258	+1	no_errors	ENST00000262043	ensembl	human	known	70_37	silent	SNP	0.988	G
PHKA2	5256	genome.wustl.edu	37	X	18942509	18942509	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:18942509G>A	ENST00000379942.4	-	16	2369	c.1704C>T	c.(1702-1704)cgC>cgT	p.R568R		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	568					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R568R(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGAGCATGGTGCGACTGATGG	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											134.0	121.0	125.0					X																	18942509		2203	4300	6503	SO:0001819	synonymous_variant	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1704C>T	X.37:g.18942509G>A			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.R568	ENST00000379942.4	37	c.1704	CCDS14190.1	X																																																																																			PHKA2	-	pfam_Glyco_hydro_15		0.552	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	G	NM_000292		18942509	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	silent	SNP	1.000	A
PHPT1	29085	genome.wustl.edu	37	9	139743863	139743863	+	5'UTR	SNP	G	G	C	rs377645824		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:139743863G>C	ENST00000247665.10	+	0	318				MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000545326.1_5'UTR|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000371661.1_5'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTGGGAGGAGGGGACTCCGGG	0.662																																																	0													60.0	64.0	63.0					9																	139743863		2199	4300	6499	SO:0001623	5_prime_UTR_variant	29085			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.-20G>C	9.37:g.139743863G>C			B1AMX0|B1AMX1|Q9H0Y3	RNA	SNP	-	NULL	ENST00000247665.10	37	NULL	CCDS7009.1	9																																																																																			PHPT1	-	-		0.662	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHPT1	HGNC	protein_coding	OTTHUMT00000055150.1	G	NM_014172		139743863	+1	no_errors	ENST00000492540	ensembl	human	known	70_37	rna	SNP	0.005	C
PHPT1	29085	genome.wustl.edu	37	9	139744960	139744960	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:139744960G>A	ENST00000247665.10	+	3	622				MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000545326.1_Missense_Mutation_p.M96I|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000371661.1_Missense_Mutation_p.M96I	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)	p.M96I(1)		NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ACCAGCAGATGAGACCCACGT	0.642																																																	1	Substitution - Missense(1)	cervix(1)											43.0	44.0	44.0					9																	139744960		1563	3578	5141	SO:0001627	intron_variant	29085			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.286-247G>A	9.37:g.139744960G>A			B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	pfam_Ocnus	p.M96I	ENST00000247665.10	37	c.288	CCDS7009.1	9	.	.	.	.	.	.	.	.	.	.	.	10.16	1.274081	0.23221	.	.	ENSG00000054148	ENST00000371661;ENST00000545326	.	.	.	2.09	-4.18	0.03846	.	.	.	.	.	T	0.22085	0.0532	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14755	-1.0461	7	0.41790	T	0.15	.	1.5783	0.02629	0.232:0.1525:0.4633:0.1522	.	96	Q9NRX4-2	.	I	96	.	ENSP00000360724:M96I	M	+	3	0	PHPT1	138864781	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.281000	0.08456	-1.436000	0.01970	-0.379000	0.06801	ATG	PHPT1	-	NULL		0.642	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHPT1	HGNC	protein_coding	OTTHUMT00000055150.1	G	NM_014172		139744960	+1	no_errors	ENST00000371661	ensembl	human	known	70_37	missense	SNP	0.000	A
PHRF1	57661	genome.wustl.edu	37	11	606580	606580	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:606580C>G	ENST00000264555.5	+	13	1721	c.1593C>G	c.(1591-1593)ctC>ctG	p.L531L	PHRF1_ENST00000413872.2_Silent_p.L529L|PHRF1_ENST00000416188.2_Silent_p.L530L|PHRF1_ENST00000533464.1_Silent_p.L527L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	531					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.L531L(1)|p.L536L(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGGCTCCCTCAGCGCCAAGA	0.652																																																	2	Substitution - coding silent(2)	cervix(2)											29.0	34.0	32.0					11																	606580		2107	4219	6326	SO:0001819	synonymous_variant	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1593C>G	11.37:g.606580C>G			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L531	ENST00000264555.5	37	c.1593		11																																																																																			PHRF1	-	NULL		0.652	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	C	NM_020901		606580	+1	no_errors	ENST00000264555	ensembl	human	known	70_37	silent	SNP	0.968	G
PHRF1	57661	genome.wustl.edu	37	11	607352	607352	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:607352C>T	ENST00000264555.5	+	14	2024	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	PHRF1_ENST00000413872.2_Silent_p.F630F|PHRF1_ENST00000416188.2_Silent_p.F631F|PHRF1_ENST00000533464.1_Silent_p.F628F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	632					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.F637F(1)|p.F632F(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCCCTGGTTCAACGGCACCA	0.612																																																	2	Substitution - coding silent(2)	cervix(2)											81.0	91.0	88.0					11																	607352		2045	4183	6228	SO:0001819	synonymous_variant	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1896C>T	11.37:g.607352C>T			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.F632	ENST00000264555.5	37	c.1896		11																																																																																			PHRF1	-	NULL		0.612	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	C	NM_020901		607352	+1	no_errors	ENST00000264555	ensembl	human	known	70_37	silent	SNP	0.002	T
PHRF1	57661	genome.wustl.edu	37	11	608208	608208	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:608208G>C	ENST00000264555.5	+	14	2880	c.2752G>C	c.(2752-2754)Gag>Cag	p.E918Q	PHRF1_ENST00000413872.2_Missense_Mutation_p.E916Q|PHRF1_ENST00000416188.2_Missense_Mutation_p.E917Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.E914Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	918					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.E918Q(1)|p.E923Q(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTCTGACACGGAGCGAGAGGA	0.692																																																	2	Substitution - Missense(2)	cervix(2)											22.0	26.0	25.0					11																	608208		1939	4101	6040	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2752G>C	11.37:g.608208G>C	ENSP00000264555:p.Glu918Gln		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E918Q	ENST00000264555.5	37	c.2752		11	.	.	.	.	.	.	.	.	.	.	G	7.498	0.652082	0.14580	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.82619	-1.62;-1.63;-1.63;-1.62	3.58	2.65	0.31530	.	0.502635	0.14949	N	0.289019	T	0.71508	0.3348	L	0.27053	0.805	0.09310	N	1	P;P;P;P	0.43701	0.718;0.815;0.815;0.718	B;B;B;B	0.40101	0.169;0.319;0.319;0.169	T	0.59354	-0.7470	10	0.36615	T	0.2	-15.6892	9.2309	0.37437	0.1048:0.0:0.8952:0.0	.	914;916;917;918	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Q	918;916;917;914	ENSP00000264555:E918Q;ENSP00000388589:E916Q;ENSP00000410626:E917Q;ENSP00000431870:E914Q	ENSP00000264555:E918Q	E	+	1	0	PHRF1	598208	1.000000	0.71417	0.002000	0.10522	0.011000	0.07611	4.209000	0.58493	0.482000	0.27582	0.555000	0.69702	GAG	PHRF1	-	NULL		0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	G	NM_020901		608208	+1	no_errors	ENST00000264555	ensembl	human	known	70_37	missense	SNP	0.017	C
PI4KAP1	728233	genome.wustl.edu	37	22	20394631	20394631	+	RNA	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:20394631G>A	ENST00000430523.3	-	0	564					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												AACTGCTCCCGGAGGTCGCCG	0.562																																																	0																																												728233					22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20394631G>A				RNA	SNP	-	NULL	ENST00000430523.3	37	NULL		22																																																																																			PI4KAP1	-	-		0.562	PI4KAP1-005	KNOWN	basic	processed_transcript	PI4KAP1	HGNC	pseudogene	OTTHUMT00000319534.5	G			20394631	-1	no_errors	ENST00000416922	ensembl	human	known	70_37	rna	SNP	0.992	A
PIAS3	10401	genome.wustl.edu	37	1	145584227	145584227	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:145584227G>A	ENST00000393045.2	+	11	1468	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	PIAS3_ENST00000369298.1_Missense_Mutation_p.D425N	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	460	SUMO1-binding. {ECO:0000250}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.D451N(1)|p.D460N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGATGAGGAGGATCTGCCCCC	0.507																																																	2	Substitution - Missense(2)	cervix(2)											124.0	128.0	127.0					1																	145584227		2203	4300	6503	SO:0001583	missense	10401			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1378G>A	1.37:g.145584227G>A	ENSP00000376765:p.Asp460Asn		Q9UFI3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.D460N	ENST00000393045.2	37	c.1378	CCDS920.2	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140366	0.77775	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.35605	1.31;1.3	5.64	5.64	0.86602	.	0.168163	0.40469	N	0.001088	T	0.45657	0.1353	L	0.43923	1.385	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.23833	-1.0177	10	0.54805	T	0.06	-16.8922	17.243	0.87019	0.0:0.0:1.0:0.0	.	460	Q9Y6X2	PIAS3_HUMAN	N	460;425	ENSP00000376765:D460N;ENSP00000358304:D425N	ENSP00000358304:D425N	D	+	1	0	PIAS3	144295584	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.345000	0.79337	2.937000	0.99478	0.650000	0.86243	GAT	PIAS3	-	NULL		0.507	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	HGNC	protein_coding	OTTHUMT00000038533.4	G	NM_006099		145584227	+1	no_errors	ENST00000393045	ensembl	human	known	70_37	missense	SNP	1.000	A
PICK1	9463	genome.wustl.edu	37	22	38469791	38469791	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:38469791G>C	ENST00000404072.3	+	11	1142	c.795G>C	c.(793-795)ctG>ctC	p.L265L	PICK1_ENST00000356976.3_Silent_p.L265L|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	265	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)	p.L265L(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CGTACTGCCTGAAGGTGAAGG	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											147.0	114.0	125.0					22																	38469791		2203	4300	6503	SO:0001819	synonymous_variant	9463			AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.795G>C	22.37:g.38469791G>C			B3KS52|O95906	Silent	SNP	pfam_Arfaptin_homology_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_Arfaptin_homology_dom,pfscan_PDZ	p.L265	ENST00000404072.3	37	c.795	CCDS13965.1	22																																																																																			PICK1	-	pfam_Arfaptin_homology_dom,pfam_BAR_dom,pfscan_Arfaptin_homology_dom		0.607	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PICK1	HGNC	protein_coding	OTTHUMT00000321569.2	G	NM_012407		38469791	+1	no_errors	ENST00000356976	ensembl	human	known	70_37	silent	SNP	1.000	C
PIK3AP1	118788	genome.wustl.edu	37	10	98405365	98405365	+	Nonsense_Mutation	SNP	C	C	A	rs35933944		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:98405365C>A	ENST00000339364.5	-	8	1359	c.1240G>T	c.(1240-1242)Gag>Tag	p.E414*	PIK3AP1_ENST00000371110.2_Nonsense_Mutation_p.E236*|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	414					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.E414*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GCATCAGCCTCCTCCCCGTGC	0.547																																																	1	Substitution - Nonsense(1)	cervix(1)											186.0	145.0	159.0					10																	98405365		2203	4300	6503	SO:0001587	stop_gained	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1240G>T	10.37:g.98405365C>A	ENSP00000339826:p.Glu414*		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Nonsense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.E414*	ENST00000339364.5	37	c.1240	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	C	41	8.737761	0.98935	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	.	.	.	5.61	5.61	0.85477	.	0.274240	0.41294	D	0.000901	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-27.3981	18.617	0.91306	0.0:1.0:0.0:0.0	rs35933944	.	.	.	X	414;236	.	ENSP00000339826:E414X	E	-	1	0	PIK3AP1	98395355	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.137000	0.58010	2.632000	0.89209	0.655000	0.94253	GAG	PIK3AP1	-	NULL		0.547	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	C	NM_152309		98405365	-1	no_errors	ENST00000339364	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PIK3R1	5295	genome.wustl.edu	37	5	67591082	67591082	+	Missense_Mutation	SNP	A	A	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:67591082A>G	ENST00000521381.1	+	13	2291	c.1675A>G	c.(1675-1677)Att>Gtt	p.I559V	PIK3R1_ENST00000523872.1_Missense_Mutation_p.I196V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.I559V|PIK3R1_ENST00000521657.1_Missense_Mutation_p.I559V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.I559V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.I289V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.I259V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	559					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)|p.I289V(1)|p.I559V(1)|p.R557_K561>Q(1)|p.I259V(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)	GTATCGAGAAATTGACAAACG	0.368			"""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"""	6	Substitution - Missense(3)|Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	cervix(3)|large_intestine(1)|lung(1)|endometrium(1)											138.0	139.0	138.0					5																	67591082		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.1675A>G	5.37:g.67591082A>G	ENSP00000428056:p.Ile559Val		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.I559V	ENST00000521381.1	37	c.1675	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	A	23.3	4.396937	0.83120	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	M	0.76574	2.34	0.80722	D	1	B;B;B;B	0.33964	0.011;0.003;0.008;0.434	B;B;B;B	0.38020	0.007;0.027;0.015;0.263	T	0.34304	-0.9834	10	0.45353	T	0.12	-18.5226	15.2043	0.73165	1.0:0.0:0.0:0.0	.	229;289;259;559	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	V	559;559;559;559;259;289;196	ENSP00000428056:I559V;ENSP00000429277:I559V;ENSP00000379855:I559V;ENSP00000274335:I559V;ENSP00000323512:I259V;ENSP00000338554:I289V;ENSP00000430098:I196V	ENSP00000274335:I559V	I	+	1	0	PIK3R1	67626838	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.087000	0.94110	2.238000	0.73509	0.477000	0.44152	ATT	PIK3R1	-	prints_PI3kinase_P85		0.368	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	A	NM_181504		67591082	+1	no_errors	ENST00000396611	ensembl	human	known	70_37	missense	SNP	1.000	G
PIP5K1A	8394	genome.wustl.edu	37	1	151206945	151206945	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:151206945C>T	ENST00000368888.4	+	8	1334	c.912C>T	c.(910-912)ctC>ctT	p.L304L	PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000414290.2_Silent_p.L5L|PIP5K1A_ENST00000368890.4_Silent_p.L291L|PIP5K1A_ENST00000441902.2_Silent_p.L292L|PIP5K1A_ENST00000409426.1_Silent_p.L292L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	304	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.L304L(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	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;0.181)			ACAACGCTCTCTGTAAGACCC	0.403																																					Pancreas(80;36 1443 2325 16095 21302)												1	Substitution - coding silent(1)	cervix(1)											81.0	77.0	78.0					1																	151206945		2203	4300	6503	SO:0001819	synonymous_variant	8394			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.912C>T	1.37:g.151206945C>T			A8K4Q0|B4DIN0|Q99754|Q99756	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.L304	ENST00000368888.4	37	c.912	CCDS44219.1	1																																																																																			PIP5K1A	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.403	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	HGNC	protein_coding	OTTHUMT00000034425.2	C	NM_003557		151206945	+1	no_errors	ENST00000368888	ensembl	human	known	70_37	silent	SNP	0.254	T
PIR	8544	genome.wustl.edu	37	X	15509413	15509413	+	5'UTR	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:15509413G>A	ENST00000380421.3	-	0	428				PIR_ENST00000476381.1_5'Flank|BMX_ENST00000357607.2_Intron|PIR_ENST00000380420.5_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)						monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TTCTGATGCTGAGCTGTAGAG	0.443																																					Ovarian(180;1587 2015 10555 34192 51653)												0													51.0	49.0	50.0					X																	15509413		2203	4300	6503	SO:0001623	5_prime_UTR_variant	8544			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.-33C>T	X.37:g.15509413G>A			Q5U0G0|Q6FHD2	RNA	SNP	-	NULL	ENST00000380421.3	37	NULL	CCDS14167.1	X																																																																																			PIR	-	-		0.443	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIR	HGNC	protein_coding	OTTHUMT00000055863.1	G	NM_003662		15509413	-1	no_errors	ENST00000471725	ensembl	human	known	70_37	rna	SNP	0.000	A
PITRM1	10531	genome.wustl.edu	37	10	3199698	3199698	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:3199698C>T	ENST00000224949.4	-	12	1310	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.E426K|PITRM1_ENST00000451104.2_Missense_Mutation_p.E394K|PITRM1_ENST00000380994.1_5'UTR			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	426					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E426K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						AGTAAAGCCTCAATTCGATCA	0.388																																																	1	Substitution - Missense(1)	cervix(1)											126.0	117.0	120.0					10																	3199698		1858	4110	5968	SO:0001583	missense	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1276G>A	10.37:g.3199698C>T	ENSP00000224949:p.Glu426Lys		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	p.E426K	ENST00000224949.4	37	c.1276	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	c	34	5.349513	0.95830	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.12774	2.65;2.65;2.65	5.75	5.75	0.90469	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.045321	0.85682	D	0.000000	T	0.33469	0.0864	M	0.85197	2.74	0.80722	D	1	B;P;P;P;P;P	0.42248	0.307;0.774;0.673;0.482;0.482;0.482	B;P;B;P;P;P	0.46885	0.126;0.53;0.444;0.461;0.461;0.461	T	0.07849	-1.0751	10	0.51188	T	0.08	.	19.9434	0.97174	0.0:1.0:0.0:0.0	.	419;394;426;426;426;419	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	K	426;419;426;394	ENSP00000224949:E426K;ENSP00000370377:E426K;ENSP00000401201:E394K	ENSP00000224949:E426K	E	-	1	0	PITRM1	3189698	1.000000	0.71417	0.965000	0.40720	0.936000	0.57629	4.206000	0.58473	2.710000	0.92621	0.563000	0.77884	GAG	PITRM1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.388	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	C			3199698	-1	no_errors	ENST00000380989	ensembl	human	known	70_37	missense	SNP	1.000	T
PITX1	5307	genome.wustl.edu	37	5	134364558	134364558	+	Silent	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:134364558G>T	ENST00000265340.7	-	3	1272	c.856C>A	c.(856-858)Cgg>Agg	p.R286R	PITX1_ENST00000506438.1_Silent_p.R286R	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	286					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity involved in positive regulation of transcription (GO:0001190)	p.R286R(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GACTTGAGCCGCAGGCTGGCT	0.692																																																	1	Substitution - coding silent(1)	cervix(1)											33.0	34.0	34.0					5																	134364558		2200	4296	6496	SO:0001819	synonymous_variant	5307			AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.856C>A	5.37:g.134364558G>T			A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.R286	ENST00000265340.7	37	c.856	CCDS4182.1	5																																																																																			PITX1	-	pfam_OAR_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom		0.692	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX1	HGNC	protein_coding	OTTHUMT00000251195.3	G			134364558	-1	no_errors	ENST00000265340	ensembl	human	known	70_37	silent	SNP	0.994	T
PITX1	5307	genome.wustl.edu	37	5	134364608	134364608	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:134364608G>C	ENST00000265340.7	-	3	1222	c.806C>G	c.(805-807)tCg>tGg	p.S269W	PITX1_ENST00000506438.1_Missense_Mutation_p.S269W	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	269	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity involved in positive regulation of transcription (GO:0001190)	p.S269W(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCTGTAGGGCGAGGCGGGAGT	0.657																																																	1	Substitution - Missense(1)	cervix(1)											49.0	48.0	48.0					5																	134364608		2203	4300	6503	SO:0001583	missense	5307			AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.806C>G	5.37:g.134364608G>C	ENSP00000265340:p.Ser269Trp		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.S269W	ENST00000265340.7	37	c.806	CCDS4182.1	5	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425801	0.83667	.	.	ENSG00000069011	ENST00000265340;ENST00000506438	D;D	0.91011	-2.77;-2.77	4.14	4.14	0.48551	.	0.187891	0.47455	D	0.000239	D	0.94066	0.8098	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94866	0.8026	10	0.87932	D	0	.	15.3899	0.74735	0.0:0.0:1.0:0.0	.	269	P78337	PITX1_HUMAN	W	269	ENSP00000265340:S269W;ENSP00000427542:S269W	ENSP00000265340:S269W	S	-	2	0	PITX1	134392507	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.617000	0.98361	1.859000	0.53934	0.462000	0.41574	TCG	PITX1	-	pirsf_Homeobox_Pitx/unc30		0.657	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX1	HGNC	protein_coding	OTTHUMT00000251195.3	G			134364608	-1	no_errors	ENST00000265340	ensembl	human	known	70_37	missense	SNP	1.000	C
PITX1	5307	genome.wustl.edu	37	5	134364763	134364763	+	Silent	SNP	G	G	C	rs146204449	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:134364763G>C	ENST00000265340.7	-	3	1067	c.651C>G	c.(649-651)ccC>ccG	p.P217P	PITX1_ENST00000506438.1_Silent_p.P217P	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	217	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity involved in positive regulation of transcription (GO:0001190)	p.P217P(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		AGATGGAGCTGGGTGCTGAGA	0.637																																																	1	Substitution - coding silent(1)	cervix(1)						G		0,4406		0,0,2203	90.0	88.0	89.0		651	4.4	1.0	5	dbSNP_134	89	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	PITX1	NM_002653.4		0,6,6497	CC,CG,GG		0.0698,0.0,0.0461		217/315	134364763	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5307			AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.651C>G	5.37:g.134364763G>C			A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.P217	ENST00000265340.7	37	c.651	CCDS4182.1	5																																																																																			PITX1	-	pirsf_Homeobox_Pitx/unc30		0.637	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX1	HGNC	protein_coding	OTTHUMT00000251195.3	G			134364763	-1	no_errors	ENST00000265340	ensembl	human	known	70_37	silent	SNP	1.000	C
PKD1	5310	genome.wustl.edu	37	16	2164353	2164353	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:2164353C>T	ENST00000262304.4	-	11	2879	c.2671G>A	c.(2671-2673)Gat>Aat	p.D891N	PKD1_ENST00000423118.1_Missense_Mutation_p.D891N|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	891	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.D891N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AACAGGGTATCGTTGGTCTCC	0.667																																																	1	Substitution - Missense(1)	cervix(1)											28.0	22.0	24.0					16																	2164353		2187	4285	6472	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2671G>A	16.37:g.2164353C>T	ENSP00000262304:p.Asp891Asn		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.D891N	ENST00000262304.4	37	c.2671	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	c	6.241	0.412554	0.11812	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.40225	1.04;1.04	4.96	-2.11	0.07187	Polycystin cation channel (1);	0.802936	0.11414	N	0.566475	T	0.25005	0.0607	L	0.29908	0.895	0.09310	N	1	B;B	0.22276	0.067;0.039	B;B	0.11329	0.006;0.004	T	0.14008	-1.0488	10	0.32370	T	0.25	.	6.4649	0.21975	0.0:0.5472:0.1142:0.3386	.	891;891	P98161-3;P98161	.;PKD1_HUMAN	N	891	ENSP00000262304:D891N;ENSP00000399501:D891N	ENSP00000262304:D891N	D	-	1	0	PKD1	2104354	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.210000	0.09345	-0.720000	0.04935	0.450000	0.29827	GAT	PKD1	-	pfam_PKD_dom,tigrfam_Polycystin_cat		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2164353	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.000	T
PKD1L1	168507	genome.wustl.edu	37	7	47880142	47880142	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:47880142G>A	ENST00000289672.2	-	35	5519	c.5469C>T	c.(5467-5469)gaC>gaT	p.D1823D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1823	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.D1823D(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGTCCATTGTCGCCACATA	0.473																																																	1	Substitution - coding silent(1)	cervix(1)											75.0	75.0	75.0					7																	47880142		2203	4300	6503	SO:0001819	synonymous_variant	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5469C>T	7.37:g.47880142G>A			Q6UWK1	Silent	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.D1823	ENST00000289672.2	37	c.5469	CCDS34633.1	7																																																																																			PKD1L1	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2		0.473	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	G	NM_138295		47880142	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	silent	SNP	0.769	A
PKD1L1	168507	genome.wustl.edu	37	7	47942089	47942089	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:47942089C>T	ENST00000289672.2	-	13	2001	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	651	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.E651K(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCAAGGACCTCCACTGTAAAT	0.488																																																	1	Substitution - Missense(1)	cervix(1)											84.0	82.0	83.0					7																	47942089		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1951G>A	7.37:g.47942089C>T	ENSP00000289672:p.Glu651Lys		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.E651K	ENST00000289672.2	37	c.1951	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676468	0.29783	.	.	ENSG00000158683	ENST00000289672	T	0.58797	0.31	5.14	-0.302	0.12796	PKD/Chitinase domain (1);PKD domain (4);	0.571419	0.15142	N	0.278255	T	0.37919	0.1021	N	0.16037	0.36	0.23735	N	0.996982	P	0.45176	0.852	P	0.45712	0.491	T	0.36792	-0.9733	10	0.13470	T	0.59	-5.6323	8.524	0.33293	0.0:0.3648:0.4777:0.1575	.	651	Q8TDX9	PK1L1_HUMAN	K	651	ENSP00000289672:E651K	ENSP00000289672:E651K	E	-	1	0	PKD1L1	47908614	0.010000	0.17322	0.075000	0.20258	0.384000	0.30261	-0.251000	0.08818	-0.395000	0.07715	0.650000	0.86243	GAG	PKD1L1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom		0.488	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	C	NM_138295		47942089	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	missense	SNP	0.978	T
PKNOX1	5316	genome.wustl.edu	37	21	44430227	44430227	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:44430227G>C	ENST00000291547.5	+	4	455	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	PKNOX1_ENST00000432907.2_Intron	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	82					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)	p.E82Q(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						ACAGGGCTCTGAAGGCACAAC	0.363																																																	1	Substitution - Missense(1)	cervix(1)											79.0	80.0	80.0					21																	44430227		2203	4300	6503	SO:0001583	missense	5316				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.244G>C	21.37:g.44430227G>C	ENSP00000291547:p.Glu82Gln		O00528|Q8IWT7	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E82Q	ENST00000291547.5	37	c.244	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904543	0.92035	.	.	ENSG00000160199	ENST00000291547	T	0.35973	1.28	5.5	5.5	0.81552	.	0.149816	0.64402	D	0.000013	T	0.48314	0.1493	L	0.49126	1.545	0.80722	D	1	P;D;P	0.57899	0.844;0.981;0.933	B;P;P	0.52109	0.445;0.69;0.542	T	0.48468	-0.9033	10	0.72032	D	0.01	-16.8	19.3751	0.94505	0.0:0.0:1.0:0.0	.	82;82;82	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	Q	82	ENSP00000291547:E82Q	ENSP00000291547:E82Q	E	+	1	0	PKNOX1	43303296	1.000000	0.71417	0.275000	0.24674	0.847000	0.48162	9.242000	0.95408	2.586000	0.87340	0.561000	0.74099	GAA	PKNOX1	-	NULL		0.363	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3	G			44430227	+1	no_errors	ENST00000291547	ensembl	human	known	70_37	missense	SNP	1.000	C
PKNOX1	5316	genome.wustl.edu	37	21	44430276	44430276	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:44430276G>A	ENST00000291547.5	+	4	504	c.293G>A	c.(292-294)aGa>aAa	p.R98K	PKNOX1_ENST00000432907.2_Intron	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	98					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)	p.R98K(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AATTTTGTAAGAAAGCAAGAG	0.313																																																	1	Substitution - Missense(1)	cervix(1)											57.0	56.0	57.0					21																	44430276		2203	4300	6503	SO:0001583	missense	5316				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.293G>A	21.37:g.44430276G>A	ENSP00000291547:p.Arg98Lys		O00528|Q8IWT7	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R98K	ENST00000291547.5	37	c.293	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420319	0.62622	.	.	ENSG00000160199	ENST00000291547	T	0.40476	1.03	5.5	5.5	0.81552	.	0.048576	0.85682	D	0.000000	T	0.33147	0.0853	N	0.21545	0.675	0.80722	D	1	P;P;P	0.46859	0.75;0.688;0.885	P;B;P	0.45753	0.473;0.3;0.492	T	0.03287	-1.1052	10	0.22706	T	0.39	-14.2194	12.6975	0.57012	0.0757:0.0:0.9243:0.0	.	98;98;98	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	K	98	ENSP00000291547:R98K	ENSP00000291547:R98K	R	+	2	0	PKNOX1	43303345	1.000000	0.71417	0.950000	0.38849	0.971000	0.66376	7.446000	0.80609	2.586000	0.87340	0.561000	0.74099	AGA	PKNOX1	-	NULL		0.313	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3	G			44430276	+1	no_errors	ENST00000291547	ensembl	human	known	70_37	missense	SNP	1.000	A
PLA2G2A	5320	genome.wustl.edu	37	1	20305077	20305077	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:20305077C>G	ENST00000375111.3	-	4	312				PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Intron	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)						defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|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 metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	CCCTCCCTCTCTGCCCCTCTC	0.527																																																	0																																										SO:0001627	intron_variant	5320			BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.41-60G>C	1.37:g.20305077C>G			A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	RNA	SNP	-	NULL	ENST00000375111.3	37	NULL	CCDS201.1	1																																																																																			PLA2G2A	-	-		0.527	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2A	HGNC	protein_coding	OTTHUMT00000007675.1	C	NM_000300		20305077	-1	no_errors	ENST00000496748	ensembl	human	known	70_37	rna	SNP	0.000	G
PLA2G4F	255189	genome.wustl.edu	37	15	42446305	42446305	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:42446305G>A	ENST00000382396.4	-	4	521	c.435C>T	c.(433-435)ttC>ttT	p.F145F	PLA2G4F_ENST00000397272.3_Silent_p.F145F			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	145					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|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)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.F145F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGTTGAGTGGGAAGGTGTGTT	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											98.0	91.0	93.0					15																	42446305		2203	4299	6502	SO:0001819	synonymous_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.435C>T	15.37:g.42446305G>A			Q6ZMC8	Silent	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.F145	ENST00000382396.4	37	c.435	CCDS32204.1	15																																																																																			PLA2G4F	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.617	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	G	NM_213600		42446305	-1	no_errors	ENST00000397272	ensembl	human	known	70_37	silent	SNP	0.349	A
PLAG1	5324	genome.wustl.edu	37	8	57079819	57079819	+	Silent	SNP	C	C	T	rs370105954		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:57079819C>T	ENST00000316981.3	-	5	965	c.486G>A	c.(484-486)acG>acA	p.T162T	PLAG1_ENST00000423799.2_Silent_p.T80T|PLAG1_ENST00000429357.2_Silent_p.T162T	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	162	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T162T(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAAGCACTCCCGTGCTTTCAA	0.468			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	2	Substitution - coding silent(2)	cervix(2)											75.0	67.0	70.0					8																	57079819		2203	4300	6503	SO:0001819	synonymous_variant	5324			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.486G>A	8.37:g.57079819C>T			B4DLC2|Q59GH8|Q9Y4L2	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T162	ENST00000316981.3	37	c.486	CCDS6165.1	8																																																																																			PLAG1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLAG1	HGNC	protein_coding	OTTHUMT00000378212.1	C	NM_002655		57079819	-1	no_errors	ENST00000316981	ensembl	human	known	70_37	silent	SNP	0.936	T
PLCB4	5332	genome.wustl.edu	37	20	9389808	9389808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:9389808C>A	ENST00000378493.1	+	20	1958	c.1943C>A	c.(1942-1944)tCa>tAa	p.S648*	PLCB4_ENST00000378473.3_Nonsense_Mutation_p.S660*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.S660*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.S648*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.S648*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.S648*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	648	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S648*(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGATGGTTTCACTGAACTAT	0.498																																																	1	Substitution - Nonsense(1)	cervix(1)											56.0	46.0	50.0					20																	9389808		2203	4300	6503	SO:0001587	stop_gained	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1943C>A	20.37:g.9389808C>A	ENSP00000367754:p.Ser648*		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,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.S648*	ENST00000378493.1	37	c.1943	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	C	42	9.608289	0.99219	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.92	4.98	0.66077	.	0.058902	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6507	0.85188	0.1309:0.8691:0.0:0.0	.	.	.	.	X	648;660;648;648;648;496	.	ENSP00000278655:S648X	S	+	2	0	PLCB4	9337808	1.000000	0.71417	0.964000	0.40570	0.855000	0.48748	7.773000	0.85462	1.507000	0.48752	0.561000	0.74099	TCA	PLCB4	-	pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,pfscan_PLipase_C_Pinositol-sp_Y		0.498	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	C			9389808	+1	no_errors	ENST00000334005	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PLCG1	5335	genome.wustl.edu	37	20	39794458	39794458	+	Silent	SNP	C	C	G	rs555840839		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:39794458C>G	ENST00000373271.1	+	16	2196	c.1791C>G	c.(1789-1791)ctC>ctG	p.L597L	PLCG1_ENST00000244007.3_Silent_p.L597L|PLCG1_ENST00000373272.2_Silent_p.L597L	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	597	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.L597L(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ACTACACGCTCTCTTTCTGGT	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21099	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	cervix(1)											59.0	53.0	55.0					20																	39794458		2203	4300	6503	SO:0001819	synonymous_variant	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1791C>G	20.37:g.39794458C>G			B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.L597	ENST00000373271.1	37	c.1791	CCDS13314.1	20																																																																																			PLCG1	-	pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,smart_SH2,pirsf_PLC-gamma,pfscan_SH2		0.527	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	C	NM_182811		39794458	+1	no_errors	ENST00000244007	ensembl	human	known	70_37	silent	SNP	0.488	G
PLCL1	5334	genome.wustl.edu	37	2	198949706	198949706	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:198949706C>G	ENST00000428675.1	+	2	1863	c.1465C>G	c.(1465-1467)Ctt>Gtt	p.L489V	PLCL1_ENST00000437704.2_Missense_Mutation_p.L391V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	489	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.L391V(1)|p.L489V(1)|p.L391F(1)|p.L489F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCCACTCATTCTTTGCTTGGG	0.403																																																	4	Substitution - Missense(4)	cervix(2)|lung(2)											72.0	71.0	71.0					2																	198949706		2203	4300	6503	SO:0001583	missense	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1465C>G	2.37:g.198949706C>G	ENSP00000402861:p.Leu489Val		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L489V	ENST00000428675.1	37	c.1465	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736898	0.30774	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.63580	-0.05;-0.05	5.94	5.05	0.67936	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000017	T	0.69360	0.3102	L	0.42487	1.325	0.58432	D	0.999998	P;P	0.49447	0.924;0.924	P;P	0.57548	0.823;0.823	T	0.67715	-0.5599	9	.	.	.	.	17.0329	0.86466	0.0:0.8728:0.1272:0.0	.	489;415	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	489;391	ENSP00000402861:L489V;ENSP00000414138:L391V	.	L	+	1	0	PLCL1	198657951	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.910000	0.69931	1.487000	0.48415	0.561000	0.74099	CTT	PLCL1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.403	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	C	NM_006226		198949706	+1	no_errors	ENST00000428675	ensembl	human	known	70_37	missense	SNP	1.000	G
PLD2	5338	genome.wustl.edu	37	17	4711670	4711670	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:4711670C>T	ENST00000263088.6	+	4	473	c.342C>T	c.(340-342)ctC>ctT	p.L114L	PLD2_ENST00000572940.1_Silent_p.L114L|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	114	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.L114L(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ATCGGGACCTCCTGAGACACA	0.557																																																	2	Substitution - coding silent(2)	cervix(2)											179.0	177.0	178.0					17																	4711670		2203	4300	6503	SO:0001819	synonymous_variant	5338			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.342C>T	17.37:g.4711670C>T			I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.L114	ENST00000263088.6	37	c.342	CCDS11057.1	17																																																																																			PLD2	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox		0.557	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD2	HGNC	protein_coding	OTTHUMT00000207561.3	C	NM_002663		4711670	+1	no_errors	ENST00000263088	ensembl	human	known	70_37	silent	SNP	1.000	T
PLEC	5339	genome.wustl.edu	37	8	144996564	144996564	+	Splice_Site	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144996564C>G	ENST00000322810.4	-	32	8006		c.e32-1		PLEC_ENST00000354589.3_Splice_Site|PLEC_ENST00000354958.2_Splice_Site|PLEC_ENST00000357649.2_Splice_Site|PLEC_ENST00000398774.2_Splice_Site|PLEC_ENST00000527096.1_Splice_Site|PLEC_ENST00000356346.3_Splice_Site|PLEC_ENST00000345136.3_Splice_Site|PLEC_ENST00000436759.2_Splice_Site	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						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)	p.?(3)		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						CCGTCTGCATCTGCAGAAGAA	0.642																																																	3	Unknown(3)	cervix(3)											33.0	38.0	36.0					8																	144996564		2025	4154	6179	SO:0001630	splice_region_variant	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.7837-1G>C	8.37:g.144996564C>G			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Splice_Site	SNP	-	e32-1	ENST00000322810.4	37	c.7837-1	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239744	0.22711	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000527303	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5958	0.84796	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLEC	145068552	1.000000	0.71417	0.994000	0.49952	0.161000	0.22273	7.088000	0.76901	2.257000	0.74773	0.448000	0.29417	.	PLEC	-	-		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445	Intron	144996564	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	splice_site	SNP	1.000	G
PLEC	5339	genome.wustl.edu	37	8	144997172	144997172	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144997172C>G	ENST00000322810.4	-	31	7505	c.7336G>C	c.(7336-7338)Gag>Cag	p.E2446Q	PLEC_ENST00000354589.3_Missense_Mutation_p.E2309Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2287Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2313Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2277Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2332Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2295Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2309Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2336Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2446	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)	p.E2446Q(1)|p.E2309Q(1)|p.E2336Q(1)		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						AGCATCTTCTCTGCCAAGGCC	0.677																																																	3	Substitution - Missense(3)	cervix(3)											15.0	17.0	17.0					8																	144997172		2181	4285	6466	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.7336G>C	8.37:g.144997172C>G	ENSP00000323856:p.Glu2446Gln		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.E2446Q	ENST00000322810.4	37	c.7336	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246048	0.39697	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.80480	-1.31;-1.31;-1.34;-1.34;-1.32;-1.31;-1.38;-1.31;-1.31	5.15	5.15	0.70609	.	0.000000	0.64402	U	0.000006	D	0.87422	0.6173	M	0.62723	1.935	0.54753	D	0.999981	D;D;D;D;D;D;D;D	0.67145	0.996;0.996;0.996;0.993;0.996;0.996;0.996;0.996	P;P;P;P;P;P;P;P	0.62298	0.9;0.9;0.836;0.796;0.836;0.836;0.9;0.836	D	0.88112	0.2826	10	0.56958	D	0.05	.	18.2156	0.89884	0.0:1.0:0.0:0.0	.	2336;2295;2287;2446;2277;2309;2313;2309	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2309;2313;2309;2277;2446;2287;2295;2336;2332	ENSP00000344848:E2309Q;ENSP00000350277:E2313Q;ENSP00000346602:E2309Q;ENSP00000381756:E2277Q;ENSP00000323856:E2446Q;ENSP00000347044:E2287Q;ENSP00000348702:E2295Q;ENSP00000388180:E2336Q;ENSP00000434583:E2332Q	ENSP00000323856:E2446Q	E	-	1	0	PLEC	145069160	1.000000	0.71417	0.941000	0.38009	0.827000	0.46813	5.916000	0.69981	2.415000	0.81967	0.549000	0.68633	GAG	PLEC	-	superfamily_Chorismate_mutase_type_II		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144997172	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	G
PLEC	5339	genome.wustl.edu	37	8	144997494	144997494	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144997494C>G	ENST00000322810.4	-	31	7183	c.7014G>C	c.(7012-7014)caG>caC	p.Q2338H	PLEC_ENST00000354589.3_Missense_Mutation_p.Q2201H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q2179H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q2205H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2169H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q2224H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q2187H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2201H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q2228H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2338	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)	p.Q2228H(1)|p.Q2338H(1)|p.Q2201H(1)		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						GCAGGTTCTTCTGGTGGTCGG	0.657																																																	3	Substitution - Missense(3)	cervix(3)											12.0	13.0	13.0					8																	144997494		2098	4217	6315	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.7014G>C	8.37:g.144997494C>G	ENSP00000323856:p.Gln2338His		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.Q2338H	ENST00000322810.4	37	c.7014	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348116	0.24426	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78003	-1.1;-1.1;-1.14;-1.13;-1.14;-1.1;-1.09;-1.13;-1.1	5.11	5.11	0.69529	.	0.000000	0.64402	U	0.000011	D	0.86560	0.5962	M	0.62016	1.91	0.49582	D	0.999802	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.85956	0.1467	10	0.41790	T	0.15	.	18.1196	0.89567	0.0:1.0:0.0:0.0	.	2228;2187;2179;2338;2169;2201;2205;2201	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	2201;2205;2201;2169;2338;2179;2187;2228;2224	ENSP00000344848:Q2201H;ENSP00000350277:Q2205H;ENSP00000346602:Q2201H;ENSP00000381756:Q2169H;ENSP00000323856:Q2338H;ENSP00000347044:Q2179H;ENSP00000348702:Q2187H;ENSP00000388180:Q2228H;ENSP00000434583:Q2224H	ENSP00000323856:Q2338H	Q	-	3	2	PLEC	145069482	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.151000	0.50670	2.372000	0.80975	0.549000	0.68633	CAG	PLEC	-	NULL		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144997494	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	G
PLEC	5339	genome.wustl.edu	37	8	144997691	144997691	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144997691C>G	ENST00000322810.4	-	31	6986	c.6817G>C	c.(6817-6819)Gag>Cag	p.E2273Q	PLEC_ENST00000354589.3_Missense_Mutation_p.E2136Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2114Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2140Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2104Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2159Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2122Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2136Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2163Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2273	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)	p.E2136Q(1)|p.E2163Q(1)|p.E2273Q(1)		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						CGCAGCTTCTCTGCAGCCGCC	0.721																																																	3	Substitution - Missense(3)	cervix(3)											8.0	10.0	9.0					8																	144997691		1973	4046	6019	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.6817G>C	8.37:g.144997691C>G	ENSP00000323856:p.Glu2273Gln		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.E2273Q	ENST00000322810.4	37	c.6817	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	9.601	1.128812	0.21041	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.80393	-1.31;-1.31;-1.34;-1.31;-1.37;-1.3;-1.3;-1.31;-1.31	4.98	4.98	0.66077	.	0.000000	0.64402	U	0.000006	D	0.88930	0.6571	M	0.76328	2.33	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.87083	0.2167	10	0.27082	T	0.32	.	17.835	0.88693	0.0:1.0:0.0:0.0	.	2163;2122;2114;2273;2104;2136;2140;2136	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2136;2140;2136;2104;2273;2114;2122;2163;2159	ENSP00000344848:E2136Q;ENSP00000350277:E2140Q;ENSP00000346602:E2136Q;ENSP00000381756:E2104Q;ENSP00000323856:E2273Q;ENSP00000347044:E2114Q;ENSP00000348702:E2122Q;ENSP00000388180:E2163Q;ENSP00000434583:E2159Q	ENSP00000323856:E2273Q	E	-	1	0	PLEC	145069679	1.000000	0.71417	0.932000	0.37286	0.103000	0.19146	4.692000	0.61746	2.302000	0.77476	0.448000	0.29417	GAG	PLEC	-	NULL		0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144997691	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	G
PLEC	5339	genome.wustl.edu	37	8	144999689	144999689	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:144999689C>T	ENST00000322810.4	-	31	4988	c.4819G>A	c.(4819-4821)Ggg>Agg	p.G1607R	PLEC_ENST00000354589.3_Missense_Mutation_p.G1470R|PLEC_ENST00000354958.2_Missense_Mutation_p.G1448R|PLEC_ENST00000357649.2_Missense_Mutation_p.G1474R|PLEC_ENST00000398774.2_Missense_Mutation_p.G1438R|PLEC_ENST00000527096.1_Missense_Mutation_p.G1493R|PLEC_ENST00000356346.3_Missense_Mutation_p.G1456R|PLEC_ENST00000345136.3_Missense_Mutation_p.G1470R|PLEC_ENST00000436759.2_Missense_Mutation_p.G1497R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1607	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)	p.G1497R(1)|p.G1607R(1)|p.G1470R(1)		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						CCCTCAGCCCCGCCACGCTGG	0.731																																																	3	Substitution - Missense(3)	cervix(3)											9.0	9.0	9.0					8																	144999689		1818	3698	5516	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.4819G>A	8.37:g.144999689C>T	ENSP00000323856:p.Gly1607Arg		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.G1607R	ENST00000322810.4	37	c.4819	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402207	0.25291	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	4.43	4.43	0.53597	.	0.294815	0.26995	U	0.021460	T	0.27454	0.0674	L	0.44542	1.39	0.34048	D	0.655849	D;D;D;D;D;D;D;D	0.69078	0.997;0.997;0.997;0.994;0.997;0.997;0.997;0.997	P;P;P;P;P;P;P;P	0.52909	0.713;0.713;0.713;0.52;0.713;0.713;0.713;0.713	T	0.34625	-0.9821	10	0.41790	T	0.15	.	12.0083	0.53272	0.0:0.911:0.0:0.089	.	1497;1456;1448;1607;1438;1470;1474;1470	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	R	1470;1474;1470;1438;1607;1448;1456;1497;1493	ENSP00000344848:G1470R;ENSP00000350277:G1474R;ENSP00000346602:G1470R;ENSP00000381756:G1438R;ENSP00000323856:G1607R;ENSP00000347044:G1448R;ENSP00000348702:G1456R;ENSP00000388180:G1497R;ENSP00000434583:G1493R	ENSP00000323856:G1607R	G	-	1	0	PLEC	145071677	0.000000	0.05858	0.876000	0.34364	0.168000	0.22595	0.376000	0.20535	2.163000	0.67991	0.442000	0.29010	GGG	PLEC	-	NULL		0.731	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144999689	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.978	T
PLEKHG4B	153478	genome.wustl.edu	37	5	143604	143605	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:143604_143605CC>TT	ENST00000283426.6	+	3	779_780	c.729_730CC>TT	c.(727-732)ttCCat>ttTTat	p.H244Y	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	244							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F243F(1)|p.H244Y(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGCTGTACTTCCATAGCATCCC	0.663																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)																																								SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	Exception_encountered	5.37:g.143604_143605delinsTT	ENSP00000283426:p.His244Tyr			Silent|Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F243|p.H244Y	ENST00000283426.6	37	c.729|c.730	CCDS34124.1	5																																																																																			PLEKHG4B	-	superfamily_CRAL-TRIO_dom		0.663	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	C	NM_052909		143604|143605	+1	no_errors	ENST00000283426	ensembl	human	known	70_37	silent|missense	SNP	0.985|0.871	T
PLEKHM1P	440456	genome.wustl.edu	37	17	62788592	62788592	+	RNA	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:62788592C>T	ENST00000582986.1	-	0	2017					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										GAGACGCGTTCACCATCTGCA	0.617																																																	0																																												440456					17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62788592C>T				RNA	SNP	-	NULL	ENST00000582986.1	37	NULL		17																																																																																			PLEKHM1P	-	-		0.617	PLEKHM1P-002	KNOWN	basic	processed_transcript	PLEKHM1P	HGNC	pseudogene	OTTHUMT00000445598.1	C	NR_024386		62788592	-1	no_errors	ENST00000578036	ensembl	human	known	70_37	rna	SNP	1.000	T
PLEKHO2	80301	genome.wustl.edu	37	15	65157149	65157149	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:65157149G>A	ENST00000323544.4	+	6	663	c.535G>A	c.(535-537)Gac>Aac	p.D179N	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	179	Pro-rich.							p.D179N(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGATGTTCCGGACAGTGGGCC	0.592																																																	1	Substitution - Missense(1)	cervix(1)											99.0	96.0	97.0					15																	65157149		2202	4299	6501	SO:0001583	missense	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.535G>A	15.37:g.65157149G>A	ENSP00000326706:p.Asp179Asn		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D179N	ENST00000323544.4	37	c.535	CCDS10196.1	15	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075664	0.55646	.	.	ENSG00000241839	ENST00000323544;ENST00000546008	T	0.22539	1.95	5.64	4.73	0.59995	.	0.395309	0.30210	N	0.010147	T	0.27629	0.0679	L	0.29908	0.895	0.36506	D	0.869286	D;P	0.59767	0.986;0.911	P;B	0.56474	0.799;0.382	T	0.26224	-1.0109	10	0.72032	D	0.01	.	11.9502	0.52950	0.0797:0.0:0.9203:0.0	.	129;179	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	N	179	ENSP00000326706:D179N	ENSP00000326706:D179N	D	+	1	0	PLEKHO2	62944202	0.999000	0.42202	0.895000	0.35142	0.208000	0.24298	3.100000	0.50275	1.390000	0.46547	-0.251000	0.11542	GAC	PLEKHO2	-	NULL		0.592	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	HGNC	protein_coding	OTTHUMT00000256659.1	G	NM_025201		65157149	+1	no_errors	ENST00000323544	ensembl	human	known	70_37	missense	SNP	0.986	A
PLIN4	729359	genome.wustl.edu	37	19	4511860	4511860	+	Silent	SNP	G	G	C	rs79731243	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:4511860G>C	ENST00000301286.3	-	3	2069	c.2070C>G	c.(2068-2070)ctC>ctG	p.L690L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	690	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGCCCCCATGAGCCCAGTAG	0.587																																																	0													240.0	258.0	252.0					19																	4511860		2153	4244	6397	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2070C>G	19.37:g.4511860G>C			A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.L690	ENST00000301286.3	37	c.2070	CCDS45927.1	19																																																																																			PLIN4	-	NULL		0.587	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	G	XM_170901		4511860	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	silent	SNP	0.155	C
PLK4	10733	genome.wustl.edu	37	4	128811391	128811391	+	Splice_Site	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:128811391G>C	ENST00000270861.5	+	7	2104	c.1830G>C	c.(1828-1830)gtG>gtC	p.V610V	PLK4_ENST00000514379.1_Splice_Site_p.V569V|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000515069.1_Splice_Site_p.V532V|PLK4_ENST00000513090.1_Splice_Site_p.V578V|PLK4_ENST00000507249.1_Splice_Site_p.V576V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	610					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V610V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAAAGGCTGTGGTATGTCTGT	0.348																																					Colon(135;508 1718 19061 31832 42879)												1	Substitution - coding silent(1)	cervix(1)											49.0	48.0	49.0					4																	128811391		2203	4300	6503	SO:0001630	splice_region_variant	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.1830+1G>C	4.37:g.128811391G>C			B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.V610	ENST00000270861.5	37	c.1830	CCDS3735.1	4																																																																																			PLK4	-	NULL		0.348	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	G		Silent	128811391	+1	no_errors	ENST00000270861	ensembl	human	known	70_37	silent	SNP	1.000	C
PLOD1	5351	genome.wustl.edu	37	1	12009904	12009904	+	Silent	SNP	G	G	A	rs371574381		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:12009904G>A	ENST00000196061.4	+	3	270	c.243G>A	c.(241-243)ctG>ctA	p.L81L	PLOD1_ENST00000376369.3_Silent_p.L128L|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	81					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)	p.L81L(2)		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)	TCCGGCTGCTGAAGAAAGCTC	0.612																																																	2	Substitution - coding silent(2)	cervix(2)											125.0	128.0	127.0					1																	12009904		2203	4300	6503	SO:0001819	synonymous_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.243G>A	1.37:g.12009904G>A			B4DR87|Q96AV9|Q9H132	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.L128	ENST00000196061.4	37	c.384	CCDS142.1	1																																																																																			PLOD1	-	NULL		0.612	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	G	NM_000302		12009904	+1	no_errors	ENST00000376369	ensembl	human	known	70_37	silent	SNP	1.000	A
PLS1	5357	genome.wustl.edu	37	3	142388394	142388394	+	Splice_Site	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:142388394C>T	ENST00000337777.3	+	3	446	c.233C>T	c.(232-234)tCa>tTa	p.S78L	PLS1_ENST00000497002.1_Splice_Site_p.S78L|PLS1_ENST00000457734.2_Splice_Site_p.S78L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	78	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.S78L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GAGTTTGTGTCAGTAAGTAAT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											154.0	162.0	159.0					3																	142388394		2203	4300	6503	SO:0001630	splice_region_variant	5357			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.234+1C>T	3.37:g.142388394C>T			A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.S78L	ENST00000337777.3	37	c.233	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806664	0.70682	.	.	ENSG00000120756	ENST00000457734;ENST00000475296;ENST00000464320;ENST00000337777;ENST00000497002	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.38	5.38	0.77491	EF-hand-like domain (1);	0.180144	0.50627	D	0.000104	T	0.66538	0.2799	L	0.41356	1.27	0.80722	D	1	B	0.34181	0.44	B	0.38378	0.272	T	0.61242	-0.7102	10	0.18276	T	0.48	-9.4311	19.4872	0.95033	0.0:1.0:0.0:0.0	.	78	Q14651	PLSI_HUMAN	L	78	ENSP00000387890:S78L;ENSP00000417311:S78L;ENSP00000418880:S78L;ENSP00000336831:S78L;ENSP00000418700:S78L	ENSP00000336831:S78L	S	+	2	0	PLS1	143871084	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.839000	0.62810	2.664000	0.90586	0.650000	0.86243	TCA	PLS1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.413	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	C	NM_002670	Missense_Mutation	142388394	+1	no_errors	ENST00000337777	ensembl	human	known	70_37	missense	SNP	1.000	T
PLVAP	83483	genome.wustl.edu	37	19	17476175	17476175	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:17476175C>G	ENST00000252590.4	-	3	1160	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	367					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.E367Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTTCTTCTCTTCCAGCTCC	0.617																																																	1	Substitution - Missense(1)	cervix(1)											102.0	90.0	94.0					19																	17476175		2203	4300	6503	SO:0001583	missense	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1099G>C	19.37:g.17476175C>G	ENSP00000252590:p.Glu367Gln		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	pfam_PV-1	p.E367Q	ENST00000252590.4	37	c.1099	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956748	0.18507	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.31	1.58	0.23477	.	0.612906	0.16340	N	0.218738	T	0.31231	0.0790	L	0.29908	0.895	0.21184	N	0.999761	P	0.37708	0.606	B	0.38985	0.287	T	0.12344	-1.0551	9	0.25106	T	0.35	-29.0029	12.8735	0.57978	0.0:0.519:0.481:0.0	.	367	Q9BX97	PLVAP_HUMAN	Q	367	.	ENSP00000252590:E367Q	E	-	1	0	PLVAP	17337175	0.762000	0.28451	0.484000	0.27391	0.195000	0.23768	0.436000	0.21526	0.529000	0.28599	0.462000	0.41574	GAG	PLVAP	-	pfam_PV-1		0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	C	NM_031310		17476175	-1	no_errors	ENST00000252590	ensembl	human	known	70_37	missense	SNP	0.970	G
PLXNA2	5362	genome.wustl.edu	37	1	208383784	208383784	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:208383784G>A	ENST00000367033.3	-	3	1969	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	404	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.F404F(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCAGTCCACAGAAGTTATCAT	0.577																																																	1	Substitution - coding silent(1)	cervix(1)											66.0	57.0	60.0					1																	208383784		2203	4300	6503	SO:0001819	synonymous_variant	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1212C>T	1.37:g.208383784G>A			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.F404	ENST00000367033.3	37	c.1212	CCDS31013.1	1																																																																																			PLXNA2	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	G	NM_025179		208383784	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	silent	SNP	1.000	A
PLXNB2	23654	genome.wustl.edu	37	22	50728569	50728569	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:50728569C>T	ENST00000449103.1	-	3	585	c.445G>A	c.(445-447)Gag>Aag	p.E149K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E149K			O15031	PLXB2_HUMAN	plexin B2	149	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.E192K(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCACGCCCTCATCATTGCTG	0.627																																																	1	Substitution - Missense(1)	cervix(1)											40.0	45.0	43.0					22																	50728569		2170	4257	6427	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.445G>A	22.37:g.50728569C>T	ENSP00000409171:p.Glu149Lys		A6QRH0|Q7KZU3|Q9BSU7	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.E149K	ENST00000449103.1	37	c.445	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095191	0.76870	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455;ENST00000425954	T;T;T;T	0.09817	2.94;2.94;2.94;3.5	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.129253	0.35495	N	0.003169	T	0.23210	0.0561	L	0.56769	1.78	0.80722	D	1	P	0.50156	0.932	P	0.56474	0.799	T	0.02950	-1.1090	10	0.15499	T	0.54	.	17.6819	0.88246	0.0:1.0:0.0:0.0	.	149	O15031	PLXB2_HUMAN	K	149	ENSP00000409171:E149K;ENSP00000352288:E149K;ENSP00000392620:E149K;ENSP00000387470:E149K	ENSP00000352288:E149K	E	-	1	0	PLXNB2	49070696	0.990000	0.36364	0.359000	0.25824	0.291000	0.27294	4.333000	0.59285	2.404000	0.81709	0.561000	0.74099	GAG	PLXNB2	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	C	NM_012401		50728569	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	missense	SNP	0.998	T
PLXNC1	10154	genome.wustl.edu	37	12	94543449	94543449	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:94543449C>A	ENST00000258526.4	+	1	951	c.702C>A	c.(700-702)ttC>ttA	p.F234L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	234	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.F234L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCCTGCACTTCGTGGACGCCT	0.682																																																	1	Substitution - Missense(1)	cervix(1)											31.0	36.0	35.0					12																	94543449		2168	4277	6445	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.702C>A	12.37:g.94543449C>A	ENSP00000258526:p.Phe234Leu		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.F234L	ENST00000258526.4	37	c.702	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561731	0.65538	.	.	ENSG00000136040	ENST00000258526	T	0.08896	3.04	5.04	1.73	0.24493	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.327287	0.29473	N	0.012052	T	0.21267	0.0512	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.00666	-1.1619	10	0.72032	D	0.01	.	6.6422	0.22914	0.1235:0.5789:0.0:0.2975	.	234	O60486	PLXC1_HUMAN	L	234	ENSP00000258526:F234L	ENSP00000258526:F234L	F	+	3	2	PLXNC1	93067580	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.400000	0.20932	0.545000	0.28902	0.561000	0.74099	TTC	PLXNC1	-	superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.682	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	C			94543449	+1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	0.997	A
PM20D2	135293	genome.wustl.edu	37	6	89862863	89862863	+	Missense_Mutation	SNP	C	C	T	rs538893425	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:89862863C>T	ENST00000275072.4	+	3	811	c.716C>T	c.(715-717)tCt>tTt	p.S239F		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	239						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.S239F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AACAATCTGTCTGTGTTCAGA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											104.0	93.0	97.0					6																	89862863		2203	4300	6503	SO:0001583	missense	135293			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.716C>T	6.37:g.89862863C>T	ENSP00000275072:p.Ser239Phe		B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred	p.S239F	ENST00000275072.4	37	c.716	CCDS34499.1	6	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365563	0.61513	.	.	ENSG00000146281	ENST00000275072	T	0.58060	0.36	5.69	5.69	0.88448	Peptidase M20, dimerisation (2);	0.000000	0.85682	D	0.000000	T	0.79393	0.4438	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84666	0.0709	10	0.87932	D	0	-12.8172	19.8165	0.96571	0.0:1.0:0.0:0.0	.	239	Q8IYS1	P20D2_HUMAN	F	239	ENSP00000275072:S239F	ENSP00000275072:S239F	S	+	2	0	PM20D2	89919582	1.000000	0.71417	0.995000	0.50966	0.079000	0.17450	7.050000	0.76620	2.683000	0.91414	0.655000	0.94253	TCT	PM20D2	-	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred		0.398	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D2	HGNC	protein_coding	OTTHUMT00000041477.1	C	NM_001010853		89862863	+1	no_errors	ENST00000275072	ensembl	human	known	70_37	missense	SNP	1.000	T
PML	5371	genome.wustl.edu	37	15	74315461	74315461	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:74315461G>C	ENST00000268058.3	+	3	991	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	PML_ENST00000359928.4_Missense_Mutation_p.E299Q|PML_ENST00000569477.1_Missense_Mutation_p.E299Q|PML_ENST00000569161.1_3'UTR|PML_ENST00000395135.3_Missense_Mutation_p.E299Q|PML_ENST00000395132.2_Missense_Mutation_p.E299Q|PML_ENST00000564428.1_Missense_Mutation_p.E299Q|PML_ENST00000268059.6_Missense_Mutation_p.E299Q|PML_ENST00000567543.1_Missense_Mutation_p.E299Q|PML_ENST00000563500.1_Missense_Mutation_p.E299Q|PML_ENST00000565898.1_Missense_Mutation_p.E299Q|PML_ENST00000569965.1_Missense_Mutation_p.E299Q|PML_ENST00000354026.6_Missense_Mutation_p.E299Q|PML_ENST00000436891.3_Missense_Mutation_p.E299Q|PML_ENST00000435786.2_Missense_Mutation_p.E299Q	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	299					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|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)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E299Q(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CGAGCTGCTGGAGGCTGTGGA	0.731			T	"""RARA, PAX5"""	"""APL, ALL"""																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	3	Substitution - Missense(3)	cervix(3)											17.0	21.0	20.0					15																	74315461		2171	4252	6423	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.895G>C	15.37:g.74315461G>C	ENSP00000268058:p.Glu299Gln		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E299Q	ENST00000268058.3	37	c.895	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149237	0.21288	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T;T;T	0.52057	2.02;0.68;2.02	5.06	-0.66	0.11421	.	0.921721	0.09194	N	0.835577	T	0.42765	0.1217	L	0.38175	1.15	0.09310	N	0.999999	B;B;P;B;P;B;B;B;B;B;B;B;B	0.37955	0.072;0.158;0.612;0.173;0.573;0.063;0.17;0.374;0.313;0.313;0.047;0.072;0.131	B;B;B;B;B;B;B;B;B;B;B;B;B	0.39465	0.093;0.065;0.3;0.069;0.151;0.034;0.11;0.243;0.133;0.133;0.025;0.093;0.159	T	0.35992	-0.9766	10	0.35671	T	0.21	-8.0366	17.2564	0.87057	0.0:0.6574:0.3426:0.0	.	299;249;299;299;299;299;299;299;299;299;299;299;302	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	Q	299	ENSP00000353004:E299Q;ENSP00000268058:E299Q;ENSP00000378564:E299Q	ENSP00000268058:E299Q	E	+	1	0	PML	72102514	0.014000	0.17966	0.005000	0.12908	0.411000	0.31082	0.189000	0.17037	-0.409000	0.07553	0.462000	0.41574	GAG	PML	-	pfam_DUF3583		0.731	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	G	NM_002675		74315461	+1	no_errors	ENST00000268058	ensembl	human	known	70_37	missense	SNP	0.138	C
PMPCA	23203	genome.wustl.edu	37	9	139313653	139313653	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:139313653G>C	ENST00000371717.3	+	11	1272				PMPCA_ENST00000399219.3_Intron|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha						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)		CCTGGTCCCTGAGCCTCAGGG	0.677																																																	0																																										SO:0001627	intron_variant	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.1263+95G>C	9.37:g.139313653G>C			B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	RNA	SNP	-	NULL	ENST00000371717.3	37	NULL	CCDS35180.1	9																																																																																			PMPCA	-	-		0.677	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	G	NM_015160		139313653	+1	no_errors	ENST00000462616	ensembl	human	known	70_37	rna	SNP	0.000	C
PNKP	11284	genome.wustl.edu	37	19	50369700	50369700	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50369700C>T	ENST00000322344.3	-	3	263	c.154G>A	c.(154-156)Gag>Aag	p.E52K	PNKP_ENST00000600910.1_Missense_Mutation_p.E52K|PNKP_ENST00000600573.1_Missense_Mutation_p.E52K|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Missense_Mutation_p.E52K	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	52	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.E52K(2)|p.E52Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGACCAGCTCCACTGAGGAT	0.572								Other BER factors																																									3	Substitution - Missense(3)	cervix(2)|breast(1)											122.0	111.0	115.0					19																	50369700		2203	4300	6503	SO:0001583	missense	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.154G>A	19.37:g.50369700C>T	ENSP00000323511:p.Glu52Lys		Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.E52K	ENST00000322344.3	37	c.154	CCDS12783.1	19	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668129	0.29604	.	.	ENSG00000039650	ENST00000322344	T	0.25085	1.82	3.91	2.87	0.33458	SMAD/FHA domain (1);	0.068724	0.56097	D	0.000021	T	0.13756	0.0333	N	0.20685	0.6	0.40041	D	0.975657	B;B	0.15930	0.015;0.01	B;B	0.12837	0.008;0.007	T	0.09596	-1.0667	10	0.21014	T	0.42	-34.6812	7.725	0.28755	0.0:0.8853:0.0:0.1147	.	13;52	Q9BUL2;Q96T60	.;PNKP_HUMAN	K	52	ENSP00000323511:E52K	ENSP00000323511:E52K	E	-	1	0	PNKP	55061512	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.854000	0.27791	1.242000	0.43836	0.655000	0.94253	GAG	PNKP	-	superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met		0.572	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	C	NM_007254		50369700	-1	no_errors	ENST00000322344	ensembl	human	known	70_37	missense	SNP	1.000	T
PNLIPRP3	119548	genome.wustl.edu	37	10	118236174	118236174	+	Missense_Mutation	SNP	G	G	C	rs373926805		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:118236174G>C	ENST00000369230.3	+	11	1329	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	395	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.E395Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TGGAAAACTTGAGCCAGGCAT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											106.0	104.0	105.0					10																	118236174		2203	4300	6503	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1183G>C	10.37:g.118236174G>C	ENSP00000358232:p.Glu395Gln			Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.E395Q	ENST00000369230.3	37	c.1183	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	G	0.113	-1.135522	0.01742	.	.	ENSG00000203837	ENST00000369230	T	0.64438	-0.1	3.88	-5.46	0.02608	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	1.499670	0.04290	N	0.345329	T	0.26521	0.0648	N	0.00841	-1.15	0.09310	N	1	B	0.12630	0.006	B	0.19666	0.026	T	0.14811	-1.0459	10	0.25751	T	0.34	.	5.6031	0.17365	0.379:0.431:0.19:0.0	.	395	Q17RR3	LIPR3_HUMAN	Q	395	ENSP00000358232:E395Q	ENSP00000358232:E395Q	E	+	1	0	PNLIPRP3	118226164	0.007000	0.16637	0.037000	0.18230	0.037000	0.13140	-0.038000	0.12144	-0.517000	0.06461	-1.202000	0.01658	GAG	PNLIPRP3	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH		0.363	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	G	XM_058404		118236174	+1	no_errors	ENST00000369230	ensembl	human	known	70_37	missense	SNP	0.055	C
PNP	4860	genome.wustl.edu	37	14	20944590	20944590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:20944590C>T	ENST00000361505.5	+	6	846	c.700C>T	c.(700-702)Cga>Tga	p.R234*	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.R234*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CTGTGGACTTCGAGTCTTTGG	0.448																																																	1	Substitution - Nonsense(1)	cervix(1)	GRCh37	CM044240	PNP	M							161.0	135.0	144.0					14																	20944590		2203	4300	6503	SO:0001587	stop_gained	4860				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.700C>T	14.37:g.20944590C>T	ENSP00000354532:p.Arg234*			Nonsense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Pur_Nuc_Pase_Ino/Guo-sp,tigrfam_Purine_phosphorylase	p.R234*	ENST00000361505.5	37	c.700	CCDS9552.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.238531	0.97403	.	.	ENSG00000198805	ENST00000361505	.	.	.	4.6	4.6	0.57074	.	0.181344	0.47093	D	0.000247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-11.5789	16.3637	0.83296	0.0:1.0:0.0:0.0	.	.	.	.	X	234	.	ENSP00000354532:R234X	R	+	1	2	PNP	20014430	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.590000	0.46154	2.373000	0.80994	0.650000	0.86243	CGA	PNP	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Pur_Nuc_Pase_Ino/Guo-sp,tigrfam_Purine_phosphorylase		0.448	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNP	HGNC	protein_coding	OTTHUMT00000073646.2	C	NM_000270.2		20944590	+1	no_errors	ENST00000361505	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PNPLA3	80339	genome.wustl.edu	37	22	44319878	44319878	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:44319878G>A	ENST00000216180.3	+	1	260	c.87G>A	c.(85-87)ctG>ctA	p.L29L	PNPLA3_ENST00000423180.2_Silent_p.L29L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	29	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.L29L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CCCGCTGCCTGAGCGAGCACG	0.731																																																	1	Substitution - coding silent(1)	cervix(1)											13.0	14.0	14.0					22																	44319878		2171	4236	6407	SO:0001819	synonymous_variant	80339				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.87G>A	22.37:g.44319878G>A			B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.L29	ENST00000216180.3	37	c.87	CCDS14054.1	22																																																																																			PNPLA3	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.731	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	HGNC	protein_coding	OTTHUMT00000318891.1	G	NM_025225		44319878	+1	no_errors	ENST00000216180	ensembl	human	known	70_37	silent	SNP	0.998	A
POLD1	5424	genome.wustl.edu	37	19	50906815	50906815	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50906815C>T	ENST00000440232.2	+	10	1256	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	POLD1_ENST00000599857.1_Silent_p.F401F|POLD1_ENST00000595904.1_Silent_p.F401F	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	401					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.F401F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCAGAACTTCGACCTTCCGT	0.627								DNA polymerases (catalytic subunits)																																									2	Substitution - coding silent(2)	cervix(2)											226.0	194.0	205.0					19																	50906815		2203	4300	6503	SO:0001819	synonymous_variant	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1203C>T	19.37:g.50906815C>T			Q8NER3|Q96H98	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.F401	ENST00000440232.2	37	c.1203	CCDS12795.1	19																																																																																			POLD1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.627	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	C			50906815	+1	no_errors	ENST00000440232	ensembl	human	known	70_37	silent	SNP	0.261	T
POLG	5428	genome.wustl.edu	37	15	89862178	89862178	+	Missense_Mutation	SNP	G	G	A	rs373316463		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:89862178G>A	ENST00000268124.5	-	20	3590	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	POLG_ENST00000442287.2_Missense_Mutation_p.S1086L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1086					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.S1086L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTGGACAGCCGAGGGCTCCAG	0.572								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												1	Substitution - Missense(1)	cervix(1)											63.0	60.0	61.0					15																	89862178		2200	4299	6499	SO:0001583	missense	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3257C>T	15.37:g.89862178G>A	ENSP00000268124:p.Ser1086Leu		Q8NFM2|Q92515	Missense_Mutation	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.S1086L	ENST00000268124.5	37	c.3257	CCDS10350.1	15	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009782	0.35415	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.97041	-4.22;-4.22	5.35	3.45	0.39498	DNA-directed DNA polymerase, family A, palm domain (2);	0.562013	0.18735	N	0.132637	D	0.92545	0.7632	L	0.33485	1.01	0.09310	N	1	P	0.42248	0.774	B	0.28784	0.094	D	0.83673	0.0167	10	0.33940	T	0.23	-1.9045	15.8947	0.79325	0.0:0.256:0.744:0.0	.	1086	P54098	DPOG1_HUMAN	L	1086	ENSP00000268124:S1086L;ENSP00000399851:S1086L	ENSP00000268124:S1086L	S	-	2	0	POLG	87663182	0.076000	0.21285	0.106000	0.21319	0.932000	0.56968	2.437000	0.44828	0.808000	0.34231	0.655000	0.94253	TCG	POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.572	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	G	NM_002693		89862178	-1	no_errors	ENST00000268124	ensembl	human	known	70_37	missense	SNP	0.004	A
POLR2C	5432	genome.wustl.edu	37	16	57503910	57503910	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:57503910G>C	ENST00000219252.5	+	7	815	c.477G>C	c.(475-477)ctG>ctC	p.L159L	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	159					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.L159L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GCCAGGAGCTGAGACTTCGAG	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											55.0	52.0	53.0					16																	57503910		2198	4300	6498	SO:0001819	synonymous_variant	5432				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.477G>C	16.37:g.57503910G>C			O15161	Silent	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.L159	ENST00000219252.5	37	c.477	CCDS10782.1	16																																																																																			POLR2C	-	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3		0.522	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2C	HGNC	protein_coding	OTTHUMT00000257340.3	G	NM_032940		57503910	+1	no_errors	ENST00000219252	ensembl	human	known	70_37	silent	SNP	1.000	C
POLR3B	55703	genome.wustl.edu	37	12	106853091	106853091	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:106853091C>T	ENST00000228347.4	+	22	2737	c.2515C>T	c.(2515-2517)Cct>Tct	p.P839S	POLR3B_ENST00000539066.1_Missense_Mutation_p.P781S	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	839					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.P839S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GACTCAGATTCCTTTGGAAGG	0.383																																																	1	Substitution - Missense(1)	cervix(1)											152.0	129.0	137.0					12																	106853091		2203	4300	6503	SO:0001583	missense	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2515C>T	12.37:g.106853091C>T	ENSP00000228347:p.Pro839Ser		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.P839S	ENST00000228347.4	37	c.2515	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686820	0.48097	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.70986	-0.53;-0.53	5.59	5.59	0.84812	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	N	0.10972	0.075	0.80722	D	1	B	0.09022	0.002	B	0.17098	0.017	T	0.51293	-0.8724	10	0.10377	T	0.69	-17.4655	19.6005	0.95560	0.0:1.0:0.0:0.0	.	839	Q9NW08	RPC2_HUMAN	S	839;781	ENSP00000228347:P839S;ENSP00000445721:P781S	ENSP00000228347:P839S	P	+	1	0	POLR3B	105377221	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	7.786000	0.85741	2.636000	0.89361	0.655000	0.94253	CCT	POLR3B	-	pfam_DNA-dir_RNA_pol_su2_6		0.383	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1	C	NM_018082		106853091	+1	no_errors	ENST00000228347	ensembl	human	known	70_37	missense	SNP	1.000	T
POLRMT	5442	genome.wustl.edu	37	19	621156	621156	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:621156G>C	ENST00000588649.2	-	10	2626	c.2542C>G	c.(2542-2544)Ctc>Gtc	p.L848V	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	848	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.L848V(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AACCCCGTGAGATTGACCAGG	0.682																																																	1	Substitution - Missense(1)	cervix(1)											29.0	34.0	32.0					19																	621156		2203	4297	6500	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2542C>G	19.37:g.621156G>C	ENSP00000465759:p.Leu848Val		O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.L863V	ENST00000588649.2	37	c.2587	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	14.69	2.610447	0.46527	.	.	ENSG00000099821	ENST00000215591	T	0.47528	0.84	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	L	0.60957	1.885	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.65274	-0.6208	10	0.46703	T	0.11	-46.2405	16.1611	0.81712	0.0:0.0:1.0:0.0	.	848	O00411	RPOM_HUMAN	V	848	ENSP00000215591:L848V	ENSP00000215591:L848V	L	-	1	0	POLRMT	572156	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	4.873000	0.63057	2.283000	0.76528	0.455000	0.32223	CTC	POLRMT	-	pfam_DNA-dir_Rpol_phage-type		0.682	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	G	NM_005035		621156	-1	no_errors	ENST00000588649	ensembl	human	known	70_37	missense	SNP	1.000	C
POLRMT	5442	genome.wustl.edu	37	19	630038	630038	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:630038C>G	ENST00000588649.2	-	3	408	c.324G>C	c.(322-324)caG>caC	p.Q108H		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	108					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.Q108H(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGGCCCCCATCTGGACCTTCC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											46.0	47.0	47.0					19																	630038		2203	4300	6503	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.324G>C	19.37:g.630038C>G	ENSP00000465759:p.Gln108His		O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.Q123H	ENST00000588649.2	37	c.369	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426139	0.25726	.	.	ENSG00000099821	ENST00000215591	T	0.47528	0.84	4.02	1.76	0.24704	.	0.963754	0.08523	N	0.933132	T	0.33731	0.0873	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26326	-1.0106	10	0.45353	T	0.12	-12.8119	7.2048	0.25901	0.0:0.5639:0.3423:0.0938	.	108	O00411	RPOM_HUMAN	H	108	ENSP00000215591:Q108H	ENSP00000215591:Q108H	Q	-	3	2	POLRMT	581038	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.036000	0.13819	0.265000	0.21872	0.561000	0.74099	CAG	POLRMT	-	NULL		0.627	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	C	NM_005035		630038	-1	no_errors	ENST00000588649	ensembl	human	known	70_37	missense	SNP	0.000	G
PORCN	64840	genome.wustl.edu	37	X	48371091	48371091	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:48371091G>C	ENST00000326194.6	+	5	713	c.670G>C	c.(670-672)Gac>Cac	p.D224H	PORCN_ENST00000367574.4_Missense_Mutation_p.D153H|PORCN_ENST00000361988.3_Missense_Mutation_p.D224H|PORCN_ENST00000359882.4_Missense_Mutation_p.D224H|PORCN_ENST00000537758.1_Missense_Mutation_p.D224H|PORCN_ENST00000355092.3_Missense_Mutation_p.D224H|PORCN_ENST00000355961.4_Missense_Mutation_p.D224H	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	224					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.D224H(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTCAACGGTGACCGCCTCCT	0.647																																																	1	Substitution - Missense(1)	cervix(1)											71.0	62.0	65.0					X																	48371091		2203	4300	6503	SO:0001583	missense	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.670G>C	X.37:g.48371091G>C	ENSP00000322304:p.Asp224His		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	pfam_MBOAT_fam	p.D224H	ENST00000326194.6	37	c.670	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419023	0.62622	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.44	5.44	0.79542	.	0.096519	0.64402	D	0.000001	T	0.78521	0.4296	L	0.47716	1.5	0.51482	D	0.999923	P;P;P;P;P	0.51537	0.935;0.946;0.946;0.935;0.935	P;P;P;P;P	0.56163	0.685;0.793;0.717;0.685;0.705	T	0.76908	-0.2785	10	0.34782	T	0.22	-23.3194	15.5884	0.76506	0.0:0.0:1.0:0.0	.	224;224;153;224;224	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	H	224;224;153;224;224;224;224	ENSP00000352946:D224H;ENSP00000446401:D224H;ENSP00000356546:D153H;ENSP00000348233:D224H;ENSP00000354978:D224H;ENSP00000322304:D224H;ENSP00000347207:D224H	ENSP00000322304:D224H	D	+	1	0	PORCN	48256035	1.000000	0.71417	0.994000	0.49952	0.834000	0.47266	4.579000	0.60936	2.275000	0.75901	0.436000	0.28706	GAC	PORCN	-	pfam_MBOAT_fam		0.647	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	G	NM_022825		48371091	+1	no_errors	ENST00000326194	ensembl	human	known	70_37	missense	SNP	1.000	C
POSTN	10631	genome.wustl.edu	37	13	38164624	38164624	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:38164624C>T	ENST00000379747.4	-	4	443	c.326G>A	c.(325-327)gGa>gAa	p.G109E	POSTN_ENST00000541481.1_Missense_Mutation_p.G109E|POSTN_ENST00000379743.4_Missense_Mutation_p.G109E|POSTN_ENST00000541179.1_Missense_Mutation_p.G109E|POSTN_ENST00000379749.4_Missense_Mutation_p.G109E|POSTN_ENST00000379742.4_Missense_Mutation_p.G109E	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	109	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.G109E(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTGGTGGCTCCCACGATGCC	0.458																																																	1	Substitution - Missense(1)	cervix(1)											105.0	92.0	97.0					13																	38164624		2203	4300	6503	SO:0001583	missense	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.326G>A	13.37:g.38164624C>T	ENSP00000369071:p.Gly109Glu		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.G109E	ENST00000379747.4	37	c.326	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423238	0.83559	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.36	5.36	0.76844	FAS1 domain (2);	0.101700	0.64402	D	0.000002	D	0.95965	0.8686	M	0.79475	2.455	0.49915	D	0.999831	D;D;D;D;D;P;D	0.89917	1.0;1.0;0.988;1.0;1.0;0.911;0.988	D;D;P;D;D;P;D	0.97110	1.0;1.0;0.876;1.0;0.999;0.646;0.909	D	0.94853	0.8015	10	0.34782	T	0.22	.	19.0894	0.93221	0.0:1.0:0.0:0.0	.	109;109;109;109;109;109;109	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	E	109;109;109;109;109;109;26	ENSP00000437959:G109E;ENSP00000369073:G109E;ENSP00000369071:G109E;ENSP00000369067:G109E;ENSP00000369066:G109E;ENSP00000437953:G109E	ENSP00000369066:G109E	G	-	2	0	POSTN	37062624	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.745000	0.68672	2.515000	0.84797	0.650000	0.86243	GGA	POSTN	-	superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain		0.458	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	C	NM_006475		38164624	-1	no_errors	ENST00000379747	ensembl	human	known	70_37	missense	SNP	1.000	T
POTEA	340441	genome.wustl.edu	37	8	43152239	43152239	+	RNA	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:43152239C>T	ENST00000522175.2	+	0	378							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.H126Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATGTCAACTTCATGTCTTTGA	0.383																																																	1	Substitution - Missense(1)	cervix(1)											99.0	99.0	99.0					8																	43152239		2172	4288	6460			340441			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152239C>T			A6ND17|A6ND71|Q6S8J6	RNA	SNP	-	NULL	ENST00000522175.2	37	NULL		8																																																																																			POTEA	-	-		0.383	POTEA-003	KNOWN	basic	processed_transcript	POTEA	HGNC	pseudogene	OTTHUMT00000383492.1	C	NM_001002920		43152239	+1	no_errors	ENST00000522175	ensembl	human	known	70_37	rna	SNP	0.663	T
POTEC	388468	genome.wustl.edu	37	18	14534913	14534913	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:14534913C>G	ENST00000358970.5	-	4	903	c.904G>C	c.(904-906)Gat>Cat	p.D302H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	302										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATATCTATCAAGTGCATTT	0.303																																																	0													11.0	16.0	14.0					18																	14534913		677	1508	2185	SO:0001583	missense	388468			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.904G>C	18.37:g.14534913C>G	ENSP00000351856:p.Asp302His			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.D302H	ENST00000358970.5	37	c.904	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615736	0.28801	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.62105	0.05	1.73	1.73	0.24493	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.76793	0.4037	M	0.83852	2.665	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61481	-0.7054	9	0.87932	D	0	.	6.9499	0.24540	0.0:1.0:0.0:0.0	.	302	B2RU33	POTEC_HUMAN	H	302	ENSP00000351856:D302H	ENSP00000351856:D302H	D	-	1	0	POTEC	14524913	0.031000	0.19500	0.005000	0.12908	0.009000	0.06853	1.839000	0.39220	1.278000	0.44430	0.194000	0.17425	GAT	POTEC	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.303	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	C	XM_496269		14534913	-1	no_errors	ENST00000358970	ensembl	human	known	70_37	missense	SNP	0.015	G
POU2F1	5451	genome.wustl.edu	37	1	167301706	167301706	+	Splice_Site	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:167301706G>C	ENST00000541643.3	+	3	154		c.e3-1		POU2F1_ENST00000367865.1_Splice_Site|POU2F1_ENST00000452019.1_Splice_Site|POU2F1_ENST00000420254.3_Splice_Site|POU2F1_ENST00000429375.2_Splice_Site|POU2F1_ENST00000367866.2_Splice_Site|POU2F1_ENST00000367862.5_Splice_Site			P14859	PO2F1_HUMAN	POU class 2 homeobox 1						gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ATTTATTGCAGACTCAAGAAT	0.383																																																	1	Unknown(1)	cervix(1)											78.0	77.0	77.0					1																	167301706		2203	4300	6503	SO:0001630	splice_region_variant	5451			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.-8-1G>C	1.37:g.167301706G>C			B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Splice_Site	SNP	-	e2-1	ENST00000541643.3	37	c.62-1		1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343785	0.82022	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367862	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8044	0.92030	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POU2F1	165568330	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.198000	0.94994	2.762000	0.94881	0.591000	0.81541	.	POU2F1	-	-		0.383	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	HGNC	protein_coding		G	NM_002697	Intron	167301706	+1	no_errors	ENST00000367866	ensembl	human	known	70_37	splice_site	SNP	1.000	C
PPIG	9360	genome.wustl.edu	37	2	170488307	170488307	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:170488307G>C	ENST00000260970.3	+	11	1013	c.793G>C	c.(793-795)Gaa>Caa	p.E265Q	PPIG_ENST00000462903.1_Missense_Mutation_p.E265Q|PPIG_ENST00000448752.2_Missense_Mutation_p.E265Q|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.E250Q	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	265					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.E265Q(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TGAAAATCTTGAAGCACAACC	0.403																																																	1	Substitution - Missense(1)	cervix(1)											167.0	149.0	155.0					2																	170488307		2203	4300	6503	SO:0001583	missense	9360			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.793G>C	2.37:g.170488307G>C	ENSP00000260970:p.Glu265Gln		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E265Q	ENST00000260970.3	37	c.793	CCDS2235.1	2	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578377	0.65878	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752	T;T;T;T;T	0.80123	2.26;1.84;2.26;-1.34;2.26	5.14	5.14	0.70334	.	0.110666	0.64402	D	0.000011	T	0.81559	0.4848	M	0.71036	2.16	0.54753	D	0.999989	P;P;P;P;P	0.47762	0.761;0.468;0.9;0.839;0.468	B;B;B;B;B	0.43018	0.301;0.223;0.38;0.405;0.223	T	0.81344	-0.0975	10	0.30854	T	0.27	-3.6889	18.6042	0.91261	0.0:0.0:1.0:0.0	.	258;250;250;265;265	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	Q	265;265;258;250;265;265	ENSP00000260970:E265Q;ENSP00000408683:E258Q;ENSP00000386245:E250Q;ENSP00000435987:E265Q;ENSP00000407083:E265Q	ENSP00000260970:E265Q	E	+	1	0	PPIG	170196553	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.420000	0.66441	2.379000	0.81126	0.467000	0.42956	GAA	PPIG	-	NULL		0.403	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIG	HGNC	protein_coding	OTTHUMT00000255264.2	G			170488307	+1	no_errors	ENST00000260970	ensembl	human	known	70_37	missense	SNP	1.000	C
PPM1J	333926	genome.wustl.edu	37	1	113256227	113256227	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:113256227G>C	ENST00000309276.6	-	2	508	c.333C>G	c.(331-333)atC>atG	p.I111M	RP11-426L16.10_ENST00000606505.1_5'Flank|PPM1J_ENST00000464951.1_De_novo_Start_InFrame|PPM1J_ENST00000359994.4_5'Flank|RP11-426L16.9_ENST00000566195.1_RNA|RP11-426L16.10_ENST00000471038.2_5'Flank	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	111					protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)	p.I111M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCAGCATTGATGACCCTGC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											171.0	139.0	150.0					1																	113256227		2203	4300	6503	SO:0001583	missense	333926			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.333C>G	1.37:g.113256227G>C	ENSP00000308926:p.Ile111Met		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.I111M	ENST00000309276.6	37	c.333	CCDS855.2	1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606059	0.66445	.	.	ENSG00000155367	ENST00000309276	T	0.57273	0.41	5.41	4.3	0.51218	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	M	0.78344	2.41	0.80722	D	1	D	0.59767	0.986	P	0.51415	0.669	T	0.61608	-0.7028	10	0.87932	D	0	-12.6938	10.6791	0.45804	0.0828:0.0:0.7806:0.1366	.	111	Q5JR12	PPM1J_HUMAN	M	111	ENSP00000308926:I111M	ENSP00000308926:I111M	I	-	3	3	PPM1J	113057750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.649000	0.46656	2.529000	0.85273	0.561000	0.74099	ATC	PPM1J	-	superfamily_PP2C-like,smart_PP2C-like		0.577	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1J	HGNC	protein_coding	OTTHUMT00000033251.1	G	NM_005167		113256227	-1	no_errors	ENST00000309276	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP1CB	5500	genome.wustl.edu	37	2	29011673	29011673	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:29011673C>G	ENST00000395366.2	+	6	1014	c.742C>G	c.(742-744)Cag>Gag	p.Q248E	SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000358506.2_Missense_Mutation_p.Q248E|PPP1CB_ENST00000296122.6_Missense_Mutation_p.Q248E	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	248					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)	p.Q248E(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCGAGCTCATCAGGTATGAAA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											86.0	81.0	83.0					2																	29011673		2203	4300	6503	SO:0001583	missense	5500				CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.742C>G	2.37:g.29011673C>G	ENSP00000378769:p.Gln248Glu		B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.Q248E	ENST00000395366.2	37	c.742	CCDS33169.1	2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825703	0.90955	.	.	ENSG00000213639	ENST00000358506;ENST00000296122;ENST00000395366	T;T;T	0.80653	-1.4;-1.4;-1.4	5.48	5.48	0.80851	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	L	0.60455	1.87	0.80722	D	1	P	0.34522	0.455	B	0.32928	0.155	T	0.80913	-0.1170	10	0.87932	D	0	-9.763	19.7147	0.96110	0.0:1.0:0.0:0.0	.	248	P62140	PP1B_HUMAN	E	248	ENSP00000351298:Q248E;ENSP00000296122:Q248E;ENSP00000378769:Q248E	ENSP00000296122:Q248E	Q	+	1	0	PPP1CB	28865177	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.776000	0.85560	2.732000	0.93576	0.591000	0.81541	CAG	PPP1CB	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.398	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CB	HGNC	protein_coding	OTTHUMT00000324841.1	C			29011673	+1	no_errors	ENST00000296122	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R12A	4659	genome.wustl.edu	37	12	80192284	80192284	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:80192284C>G	ENST00000450142.2	-	15	2347	c.2081G>C	c.(2080-2082)aGa>aCa	p.R694T	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R694T|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R694T|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R638T|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R607T	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	694	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)	p.R694T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CTGTGTTGATCTTCTAGATTG	0.308																																																	1	Substitution - Missense(1)	cervix(1)											129.0	115.0	119.0					12																	80192284		1822	4067	5889	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.2081G>C	12.37:g.80192284C>G	ENSP00000389168:p.Arg694Thr		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.R694T	ENST00000450142.2	37	c.2081	CCDS44947.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.53|17.53	3.412877|3.412877	0.62511|0.62511	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000553081|ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	.|D;D;D;D;D;D;T	.|0.88741	.|-2.4;-2.4;-2.29;-2.42;-2.24;-1.96;-1.24	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94827|0.94827	0.8329|0.8329	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.61080	.|0.989;0.989;0.989;0.981	.|D;D;D;D	.|0.75020	.|0.985;0.985;0.985;0.966	D|D	0.94200|0.94200	0.7449|0.7449	5|10	.|0.44086	.|T	.|0.13	.|.	19.2672|19.2672	0.93993|0.93993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|635;694;638;694	.|F8W8Q6;O14974-2;O14974-3;O14974	.|.;.;.;MYPT1_HUMAN	H|T	286|694;694;694;638;635;694;694;607;638;635;274	.|ENSP00000261207:R694T;ENSP00000389168:R694T;ENSP00000416769:R694T;ENSP00000449514:R607T;ENSP00000446855:R638T;ENSP00000446816:R635T;ENSP00000450061:R274T	.|ENSP00000261207:R694T	D|R	-|-	1|2	0|0	PPP1R12A|PPP1R12A	78716415|78716415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.057000|0.057000	0.15508|0.15508	7.234000|7.234000	0.78134|0.78134	2.552000|2.552000	0.86080|0.86080	0.557000|0.557000	0.71058|0.71058	GAT|AGA	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.308	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	C	NM_002480		80192284	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R8	5511	genome.wustl.edu	37	1	28169737	28169737	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:28169737C>G	ENST00000311772.5	+	5	591	c.533C>G	c.(532-534)tCt>tGt	p.S178C	PPP1R8_ENST00000373931.4_Missense_Mutation_p.S36C|PPP1R8_ENST00000236412.7_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	178	Interaction with EED.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)	p.S178C(1)		breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCGGATTTCTACCCTTACC	0.458																																																	1	Substitution - Missense(1)	cervix(1)											136.0	128.0	131.0					1																	28169737		2203	4300	6503	SO:0001583	missense	5511			AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.533C>G	1.37:g.28169737C>G	ENSP00000311677:p.Ser178Cys		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S178C	ENST00000311772.5	37	c.533	CCDS311.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.105712	0.94292	.	.	ENSG00000117751	ENST00000311772;ENST00000373931;ENST00000399118;ENST00000431586	T	0.56103	0.48	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.74647	2.275	0.40106	D	0.976423	D	0.89917	1.0	D	0.69142	0.962	T	0.75775	-0.3199	10	0.87932	D	0	-13.9564	20.4192	0.99033	0.0:1.0:0.0:0.0	.	178	Q12972	PP1R8_HUMAN	C	178;36;36;36	ENSP00000311677:S178C	ENSP00000311677:S178C	S	+	2	0	PPP1R8	28042324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.666000	0.83877	2.831000	0.97527	0.650000	0.86243	TCT	PPP1R8	-	NULL		0.458	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R8	HGNC	protein_coding	OTTHUMT00000010528.1	C	NM_014110		28169737	+1	no_errors	ENST00000311772	ensembl	human	known	70_37	missense	SNP	1.000	G
PPRC1	23082	genome.wustl.edu	37	10	103907125	103907125	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:103907125C>A	ENST00000278070.2	+	9	4415	c.4376C>A	c.(4375-4377)tCc>tAc	p.S1459Y	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.S426Y	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1459	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S1459Y(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGGTCCCTCTCCCCCCCACAC	0.527																																																	1	Substitution - Missense(1)	cervix(1)											88.0	73.0	78.0					10																	103907125		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4376C>A	10.37:g.103907125C>A	ENSP00000278070:p.Ser1459Tyr		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S1459Y	ENST00000278070.2	37	c.4376	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741087	0.69304	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.60299	0.2;0.2	5.76	5.76	0.90799	.	0.485845	0.25329	N	0.031447	T	0.66733	0.2819	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.973	T	0.68318	-0.5440	10	0.59425	D	0.04	.	18.1526	0.89679	0.0:1.0:0.0:0.0	.	1339;1459	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	Y	1459;426	ENSP00000278070:S1459Y;ENSP00000359029:S426Y	ENSP00000278070:S1459Y	S	+	2	0	PPRC1	103897115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.996000	0.63914	2.724000	0.93272	0.462000	0.41574	TCC	PPRC1	-	NULL		0.527	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	C	NM_015062		103907125	+1	no_errors	ENST00000278070	ensembl	human	known	70_37	missense	SNP	1.000	A
PPWD1	23398	genome.wustl.edu	37	5	64867770	64867770	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:64867770G>C	ENST00000261308.5	+	5	698	c.626G>C	c.(625-627)cGa>cCa	p.R209P	PPWD1_ENST00000538977.1_Missense_Mutation_p.R53P|PPWD1_ENST00000535264.1_Missense_Mutation_p.R179P	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	209					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R209P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TATGATGGCCGAGGAGATAAC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											94.0	101.0	98.0					5																	64867770		2203	4300	6503	SO:0001583	missense	23398			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.626G>C	5.37:g.64867770G>C	ENSP00000261308:p.Arg209Pro		B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Cyclophilin-like_PPIase_dom	p.R209P	ENST00000261308.5	37	c.626	CCDS3985.1	5	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765774	0.90020	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.64991	-0.13;-0.13;4.87;-0.13	5.83	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	M	0.89414	3.03	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.62382	0.901;0.798	D	0.84108	0.0399	10	0.56958	D	0.05	.	15.0364	0.71751	0.0683:0.0:0.9317:0.0	.	179;209	F5H7P7;Q96BP3	.;PPWD1_HUMAN	P	209;179;53;128	ENSP00000261308:R209P;ENSP00000442371:R179P;ENSP00000444496:R53P;ENSP00000423234:R128P	ENSP00000261308:R209P	R	+	2	0	PPWD1	64903526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.791000	0.99081	1.470000	0.48102	0.491000	0.48974	CGA	PPWD1	-	superfamily_WD40_repeat_dom		0.423	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPWD1	HGNC	protein_coding	OTTHUMT00000253970.2	G	NM_015342		64867770	+1	no_errors	ENST00000261308	ensembl	human	known	70_37	missense	SNP	1.000	C
PRKRIR	5612	genome.wustl.edu	37	11	76063578	76063578	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:76063578C>G	ENST00000260045.3	-	5	721	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	206					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E206Q(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ATCCGACACTCCAGCAGTGCC	0.443																																																	1	Substitution - Missense(1)	cervix(1)											40.0	39.0	39.0					11																	76063578		2199	4287	6486	SO:0001583	missense	5612			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.616G>C	11.37:g.76063578C>G	ENSP00000260045:p.Glu206Gln		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E206Q	ENST00000260045.3	37	c.616	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492039	0.64074	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.75	3.84	0.44239	.	0.091086	0.85682	D	0.000000	T	0.55194	0.1905	L	0.55103	1.725	0.51233	D	0.99991	P	0.36027	0.533	B	0.39531	0.302	T	0.56571	-0.7957	9	0.44086	T	0.13	.	13.2523	0.60057	0.0:0.9219:0.0:0.0781	.	206	O43422	P52K_HUMAN	Q	31;206	.	ENSP00000260045:E206Q	E	-	1	0	PRKRIR	75741226	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	5.450000	0.66626	1.149000	0.42402	0.485000	0.47835	GAG	PRKRIR	-	NULL		0.443	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	HGNC	protein_coding	OTTHUMT00000383188.1	C	NM_004705		76063578	-1	no_errors	ENST00000260045	ensembl	human	known	70_37	missense	SNP	1.000	G
PROM2	150696	genome.wustl.edu	37	2	95940548	95940548	+	Missense_Mutation	SNP	C	C	G	rs375545886		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:95940548C>G	ENST00000317620.9	+	1	348	c.215C>G	c.(214-216)tCg>tGg	p.S72W	PROM2_ENST00000542147.1_Missense_Mutation_p.S72W|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000317668.4_Missense_Mutation_p.S72W|PROM2_ENST00000403131.2_Missense_Mutation_p.S72W	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	72					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.S72W(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGCTTCCTCTCGGTGGTGCAG	0.652																																																	1	Substitution - Missense(1)	cervix(1)											84.0	92.0	90.0					2																	95940548		2203	4300	6503	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.215C>G	2.37:g.95940548C>G	ENSP00000318270:p.Ser72Trp		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.S72W	ENST00000317620.9	37	c.215	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837040	0.32421	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	4.94	3.97	0.46021	.	0.573059	0.16472	N	0.212943	T	0.56659	0.2000	M	0.68317	2.08	0.40309	D	0.978694	D	0.69078	0.997	D	0.64410	0.925	T	0.57866	-0.7737	10	0.52906	T	0.07	-18.0663	8.8807	0.35374	0.2833:0.7167:0.0:0.0	.	72	Q8N271	PROM2_HUMAN	W	72	ENSP00000385716:S72W;ENSP00000318520:S72W;ENSP00000318270:S72W;ENSP00000442542:S72W	ENSP00000318270:S72W	S	+	2	0	PROM2	95304275	0.986000	0.35501	0.789000	0.31954	0.100000	0.18952	3.001000	0.49488	2.303000	0.77524	0.491000	0.48974	TCG	PROM2	-	pfam_Prominin		0.652	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	C	NM_144707		95940548	+1	no_errors	ENST00000317620	ensembl	human	known	70_37	missense	SNP	0.544	G
PRPF39	55015	genome.wustl.edu	37	14	45564749	45564749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:45564749C>T	ENST00000355765.6	+	2	477	c.307C>T	c.(307-309)Caa>Taa	p.Q103*		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	103					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.Q103*(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATATTTGCTTCAATATGTAGA	0.313																																																	1	Substitution - Nonsense(1)	cervix(1)											15.0	15.0	15.0					14																	45564749		1814	4066	5880	SO:0001587	stop_gained	55015			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.307C>T	14.37:g.45564749C>T	ENSP00000348010:p.Gln103*		Q08AL1|Q08AL2|Q9NUU5	Nonsense_Mutation	SNP	smart_HAT	p.Q103*	ENST00000355765.6	37	c.307	CCDS9682.2	14	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937656	0.73557	.	.	ENSG00000185246	ENST00000355765	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-18.0729	19.7885	0.96447	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000348010:Q103X	Q	+	1	0	PRPF39	44634499	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.130000	0.77235	2.779000	0.95612	0.591000	0.81541	CAA	PRPF39	-	NULL		0.313	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF39	HGNC	protein_coding	OTTHUMT00000319683.2	C			45564749	+1	no_errors	ENST00000355765	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PRR5L	79899	genome.wustl.edu	37	11	36472765	36472765	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:36472765C>T	ENST00000378867.3	+	9	947	c.592C>T	c.(592-594)Cac>Tac	p.H198Y	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.H198Y|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000311599.5_Missense_Mutation_p.H125Y	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	198					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)	p.H198Y(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCAGAGTGTTCACGAGCCCAC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											170.0	157.0	162.0					11																	36472765		2202	4298	6500	SO:0001583	missense	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.592C>T	11.37:g.36472765C>T	ENSP00000368144:p.His198Tyr		A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	pfam_HbrB	p.H198Y	ENST00000378867.3	37	c.592	CCDS31463.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049026	0.75846	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.36157	1.27;1.5;1.27	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.80982	2.52	0.58432	D	0.999995	D;D	0.71674	0.989;0.998	D;D	0.77557	0.979;0.99	T	0.69815	-0.5043	10	0.87932	D	0	-17.9831	17.9793	0.89136	0.0:1.0:0.0:0.0	.	70;198	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	Y	198;125;198	ENSP00000435050:H198Y;ENSP00000310103:H125Y;ENSP00000368144:H198Y	ENSP00000310103:H125Y	H	+	1	0	PRR5L	36429341	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.758000	0.68776	2.345000	0.79718	0.313000	0.20887	CAC	PRR5L	-	NULL		0.502	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	C	NM_024841		36472765	+1	no_errors	ENST00000378867	ensembl	human	known	70_37	missense	SNP	1.000	T
PRRC2B	84726	genome.wustl.edu	37	9	134343102	134343102	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:134343102C>A	ENST00000357304.4	+	12	1928	c.1873C>A	c.(1873-1875)Cct>Act	p.P625T	PRRC2B_ENST00000458550.1_Missense_Mutation_p.P625T|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P625T	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	625	Gln-rich.						poly(A) RNA binding (GO:0044822)	p.P625T(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAAGTCCCTTCCTCCCCGATT	0.552																																																	2	Substitution - Missense(2)	cervix(2)											51.0	58.0	56.0					9																	134343102		2060	4214	6274	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1873C>A	9.37:g.134343102C>A	ENSP00000349856:p.Pro625Thr		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.P625T	ENST00000357304.4	37	c.1873	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641697	0.87859	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000422467	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.36	5.36	0.76844	.	0.000000	0.41605	U	0.000859	T	0.45776	0.1359	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44221	-0.9342	10	0.87932	D	0	-33.404	18.0281	0.89275	0.0:1.0:0.0:0.0	.	625	Q5JSZ5	PRC2B_HUMAN	T	625;625;625;165	ENSP00000384606:P625T;ENSP00000349856:P625T;ENSP00000398853:P625T;ENSP00000391063:P165T	ENSP00000349856:P625T	P	+	1	0	PRRC2B	133332923	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	6.281000	0.72632	2.671000	0.90904	0.655000	0.94253	CCT	PRRC2B	-	NULL		0.552	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		C			134343102	+1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	1.000	A
PRRG3	79057	genome.wustl.edu	37	X	150869355	150869355	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:150869355C>G	ENST00000370353.3	+	4	936	c.546C>G	c.(544-546)ctC>ctG	p.L182L	PRRG3_ENST00000538575.1_Silent_p.L182L			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	182						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.L182L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTCTCTCTCTCCAGACTGT	0.662																																																	1	Substitution - coding silent(1)	cervix(1)											53.0	41.0	45.0					X																	150869355		2203	4300	6503	SO:0001819	synonymous_variant	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.546C>G	X.37:g.150869355C>G			A1A523|A1A575|Q8N2N6	Silent	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.L182	ENST00000370353.3	37	c.546	CCDS14699.1	X																																																																																			PRRG3	-	NULL		0.662	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	HGNC	protein_coding	OTTHUMT00000060880.1	C	NM_024082		150869355	+1	no_errors	ENST00000370353	ensembl	human	known	70_37	silent	SNP	0.705	G
PRUNE	58497	genome.wustl.edu	37	1	150999800	150999800	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:150999800G>C	ENST00000271620.3	+	6	927	c.771G>C	c.(769-771)ttG>ttC	p.L257F	PRUNE_ENST00000368936.1_Missense_Mutation_p.L75F|PRUNE_ENST00000368935.1_Missense_Mutation_p.L25F|PRUNE_ENST00000368937.1_Missense_Mutation_p.L75F|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368934.1_Missense_Mutation_p.L75F|PRUNE_ENST00000271619.8_Missense_Mutation_p.L98F	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	257						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)	p.L257F(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			ATATGGATTTGGAGGTAAGAG	0.473																																																	1	Substitution - Missense(1)	cervix(1)											174.0	148.0	157.0					1																	150999800		2203	4300	6503	SO:0001583	missense	58497			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.771G>C	1.37:g.150999800G>C	ENSP00000271620:p.Leu257Phe		B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	pfam_DHHA2,pfam_Pesterase_RecJ	p.L257F	ENST00000271620.3	37	c.771	CCDS977.1	1	.	.	.	.	.	.	.	.	.	.	-	15.93	2.977669	0.53720	.	.	ENSG00000143363	ENST00000450884;ENST00000271620;ENST00000302413;ENST00000271619;ENST00000368937;ENST00000431193;ENST00000368936;ENST00000368935;ENST00000368934	T;T;T;T;T;T;T	0.38560	1.27;1.27;1.3;1.27;1.13;1.27;1.3	4.68	4.68	0.58851	DHHA2 (1);	0.101160	0.40818	N	0.001012	T	0.53254	0.1785	M	0.83953	2.67	0.40537	D	0.980989	P;D	0.52996	0.946;0.957	P;D	0.64144	0.753;0.922	T	0.59841	-0.7378	10	0.62326	D	0.03	.	8.6709	0.34149	0.1018:0.0:0.8982:0.0	.	98;257	E9PCU1;Q86TP1	.;PRUNE_HUMAN	F	75;257;190;98;75;75;75;25;75	ENSP00000271620:L257F;ENSP00000271619:L98F;ENSP00000357933:L75F;ENSP00000392632:L75F;ENSP00000357932:L75F;ENSP00000357931:L25F;ENSP00000357930:L75F	ENSP00000271619:L98F	L	+	3	2	PRUNE	149266424	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	1.888000	0.39708	2.424000	0.82194	0.457000	0.33378	TTG	PRUNE	-	pfam_DHHA2		0.473	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRUNE	HGNC	protein_coding	OTTHUMT00000084885.1	G	NM_021222		150999800	+1	no_errors	ENST00000271620	ensembl	human	known	70_37	missense	SNP	1.000	C
PSD	5662	genome.wustl.edu	37	10	104176175	104176175	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:104176175G>T	ENST00000020673.5	-	2	1147	c.621C>A	c.(619-621)ttC>ttA	p.F207L	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.F207L	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	207					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.F207L(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CAGGTCCTCCGAAGAGTGTGG	0.647																																																	1	Substitution - Missense(1)	cervix(1)											19.0	23.0	22.0					10																	104176175		2164	4280	6444	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.621C>A	10.37:g.104176175G>T	ENSP00000020673:p.Phe207Leu		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.F207L	ENST00000020673.5	37	c.621	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	8.711	0.912116	0.17907	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.15487	2.42;2.42	5.53	0.338	0.15974	.	0.360345	0.26919	N	0.021831	T	0.05868	0.0153	N	0.08118	0	0.28268	N	0.924552	B	0.02656	0.0	B	0.04013	0.001	T	0.39563	-0.9608	10	0.09084	T	0.74	.	5.435	0.16476	0.2783:0.1381:0.5836:0.0	.	207	A5PKW4	PSD1_HUMAN	L	207;110;207	ENSP00000020673:F207L;ENSP00000384830:F207L	ENSP00000020673:F207L	F	-	3	2	PSD	104166165	0.002000	0.14202	0.925000	0.36789	0.604000	0.37047	-0.050000	0.11904	0.072000	0.16694	-0.921000	0.02739	TTC	PSD	-	NULL		0.647	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	G			104176175	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	0.802	T
PSD2	84249	genome.wustl.edu	37	5	139193876	139193876	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:139193876C>T	ENST00000274710.3	+	4	1148	c.943C>T	c.(943-945)Cat>Tat	p.H315Y		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	315	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.H315Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGCTGCTCATCGGCTGGC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											56.0	49.0	52.0					5																	139193876		2203	4300	6503	SO:0001583	missense	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.943C>T	5.37:g.139193876C>T	ENSP00000274710:p.His315Tyr		D3DQD3|Q8N3J8	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.H315Y	ENST00000274710.3	37	c.943	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804803	0.31961	.	.	ENSG00000146005	ENST00000274710	T	0.54479	0.57	4.7	3.73	0.42828	SEC7-like (4);	0.215353	0.36482	N	0.002570	T	0.48768	0.1518	L	0.46157	1.445	0.18873	N	0.999987	B	0.22604	0.072	B	0.32864	0.154	T	0.52411	-0.8579	10	0.72032	D	0.01	.	11.7292	0.51726	0.3189:0.6811:0.0:0.0	.	315	Q9BQI7	PSD2_HUMAN	Y	315	ENSP00000274710:H315Y	ENSP00000274710:H315Y	H	+	1	0	PSD2	139174060	0.998000	0.40836	0.959000	0.39883	0.521000	0.34408	4.153000	0.58118	2.153000	0.67306	0.563000	0.77884	CAT	PSD2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.647	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	C	NM_032289		139193876	+1	no_errors	ENST00000274710	ensembl	human	known	70_37	missense	SNP	0.789	T
PSG8	440533	genome.wustl.edu	37	19	43358392	43358392	+	Intron	SNP	C	C	G	rs556821863	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:43358392C>G	ENST00000401467.2	-	1	136				PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TCCTTCCCCTCGGAAACTTTG	0.473																																																	0																																										SO:0001627	intron_variant	653492			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000401467.2:c.64+1315G>C	19.37:g.43358392C>G			A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	RNA	SNP	-	NULL	ENST00000401467.2	37	NULL		19																																																																																			PSG10P	-	-		0.473	PSG8-009	PUTATIVE	basic	protein_coding	PSG10P	HGNC	protein_coding	OTTHUMT00000464525.1	C			43358392	-1	no_errors	ENST00000597171	ensembl	human	known	70_37	rna	SNP	0.005	G
PSMD9	5715	genome.wustl.edu	37	12	122337767	122337767	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:122337767G>A	ENST00000541212.1	+	3	579				PSMD9_ENST00000542602.1_Intron|PSMD9_ENST00000261817.2_Intron|PSMD9_ENST00000340175.5_Intron|RP11-87C12.2_ENST00000546333.1_Intron			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9						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 insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CCAGGGGTTGGCCACTCAAGT	0.617																																																	0													29.0	33.0	32.0					12																	122337767		2203	4299	6502	SO:0001627	intron_variant	5715			AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"""Proteasome (prosome, macropain) subunits"""	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.453+16G>A	12.37:g.122337767G>A			B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	NULL	p.A157T	ENST00000541212.1	37	c.469	CCDS9225.1	12																																																																																			PSMD9	-	NULL		0.617	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	HGNC	protein_coding	OTTHUMT00000401686.1	G	NM_002813		122337767	+1	no_errors	ENST00000543699	ensembl	human	known	70_37	missense	SNP	0.001	A
PTCH1	5727	genome.wustl.edu	37	9	98242341	98242341	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:98242341C>G	ENST00000331920.6	-	7	1276	c.977G>C	c.(976-978)gGa>gCa	p.G326A	PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000421141.1_Missense_Mutation_p.G175A|PTCH1_ENST00000375274.2_Missense_Mutation_p.G325A|PTCH1_ENST00000429896.2_Missense_Mutation_p.G175A|PTCH1_ENST00000418258.1_Missense_Mutation_p.G175A|PTCH1_ENST00000437951.1_Missense_Mutation_p.G260A|PTCH1_ENST00000430669.2_Missense_Mutation_p.G260A	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	326					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.G326A(2)|p.G325A(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCCATGACATCCACCATTCAA	0.443																																																	4	Substitution - Missense(4)	cervix(4)											155.0	143.0	147.0					9																	98242341		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.977G>C	9.37:g.98242341C>G	ENSP00000332353:p.Gly326Ala		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.G326A	ENST00000331920.6	37	c.977	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.218163	0.95104	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271;ENST00000548420	D;D;D;D;D;D;D;D;D	0.99032	-4.62;-4.55;-4.61;-4.61;-4.55;-4.61;-4.7;-5.35;-2.8	5.97	5.97	0.96955	.	0.046101	0.85682	D	0.000000	D	0.99438	0.9801	M	0.88450	2.955	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;1.0;1.0;0.999	D	0.99023	1.0818	10	0.66056	D	0.02	-16.8922	20.4388	0.99107	0.0:1.0:0.0:0.0	.	175;260;325;326	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	A	326;260;175;175;260;175;325;43;46	ENSP00000332353:G326A;ENSP00000389744:G260A;ENSP00000399981:G175A;ENSP00000396135:G175A;ENSP00000410287:G260A;ENSP00000414823:G175A;ENSP00000364423:G325A;ENSP00000364420:G43A;ENSP00000449078:G46A	ENSP00000332353:G326A	G	-	2	0	PTCH1	97282162	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.836000	0.97738	0.655000	0.94253	GGA	PTCH1	-	tigrfam_TM_rcpt_patched		0.443	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	C	NM_000264		98242341	-1	no_errors	ENST00000331920	ensembl	human	known	70_37	missense	SNP	1.000	G
PTDSS2	81490	genome.wustl.edu	37	11	488567	488567	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:488567C>G	ENST00000308020.5	+	8	950	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	258					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)	p.I258M(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGCTGGGCATCTACTGCGGCA	0.627																																																	1	Substitution - Missense(1)	cervix(1)											108.0	89.0	95.0					11																	488567		2203	4300	6503	SO:0001583	missense	81490			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.774C>G	11.37:g.488567C>G	ENSP00000308258:p.Ile258Met			Missense_Mutation	SNP	pfam_PSS	p.I258M	ENST00000308020.5	37	c.774	CCDS7696.1	11	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662780	0.67700	.	.	ENSG00000174915	ENST00000308020	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	M	0.62266	1.93	0.54753	D	0.999986	D	0.89917	1.0	D	0.85130	0.997	T	0.66232	-0.5975	9	0.35671	T	0.21	-27.249	8.6893	0.34256	0.0:0.8582:0.0:0.1418	.	258	Q9BVG9	PTSS2_HUMAN	M	258	.	ENSP00000308258:I258M	I	+	3	3	PTDSS2	478567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.869000	0.27996	2.437000	0.82529	0.561000	0.74099	ATC	PTDSS2	-	pfam_PSS		0.627	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS2	HGNC	protein_coding	OTTHUMT00000239301.2	C			488567	+1	no_errors	ENST00000308020	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPLA	9200	genome.wustl.edu	37	10	17636383	17636383	+	Splice_Site	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:17636383C>T	ENST00000361271.3	-	6	643		c.e6-1			NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						AAAATTATATCTGGAGAAAGA	0.313																																																	1	Unknown(1)	cervix(1)											27.0	28.0	28.0					10																	17636383		2193	4289	6482	SO:0001630	splice_region_variant	9200			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.606-1G>A	10.37:g.17636383C>T			B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Splice_Site	SNP	-	e6-1	ENST00000361271.3	37	c.606-1	CCDS7121.1	10	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645355	0.87859	.	.	ENSG00000165996	ENST00000361271	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPLA	17676389	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.064000	0.71169	2.857000	0.98124	0.650000	0.86243	.	PTPLA	-	-		0.313	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLA	HGNC	protein_coding	OTTHUMT00000047046.1	C	NM_014241	Intron	17636383	-1	no_errors	ENST00000361271	ensembl	human	known	70_37	splice_site	SNP	1.000	T
PTPN13	5783	genome.wustl.edu	37	4	87685874	87685874	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:87685874C>T	ENST00000411767.2	+	25	4209	c.4146C>T	c.(4144-4146)gtC>gtT	p.V1382V	PTPN13_ENST00000316707.6_Silent_p.V1191V|PTPN13_ENST00000436978.1_Silent_p.V1382V|PTPN13_ENST00000427191.2_Silent_p.V1363V|PTPN13_ENST00000511467.1_Silent_p.V1382V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1382	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.V1382V(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGATAAGTGTCACGGTACTGT	0.338																																																	1	Substitution - coding silent(1)	cervix(1)											108.0	105.0	106.0					4																	87685874		1831	4088	5919	SO:0001819	synonymous_variant	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4146C>T	4.37:g.87685874C>T			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V1382	ENST00000411767.2	37	c.4146	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.338	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	C			87685874	+1	no_errors	ENST00000436978	ensembl	human	known	70_37	silent	SNP	1.000	T
PTPN21	11099	genome.wustl.edu	37	14	88983588	88983588	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:88983588G>A	ENST00000556564.1	-	3	482	c.198C>T	c.(196-198)ctC>ctT	p.L66L	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.L66L|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	66	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.L66L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTAGTACCAGAGGCTGAAGT	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											80.0	82.0	81.0					14																	88983588		2203	4300	6503	SO:0001819	synonymous_variant	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.198C>T	14.37:g.88983588G>A				Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.L66	ENST00000556564.1	37	c.198	CCDS9884.1	14																																																																																			PTPN21	-	pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,prints_Band_41_fam		0.428	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	G			88983588	-1	no_errors	ENST00000328736	ensembl	human	known	70_37	silent	SNP	1.000	A
PTPRM	5797	genome.wustl.edu	37	18	8394576	8394576	+	Silent	SNP	G	G	A	rs371862139		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:8394576G>A	ENST00000332175.8	+	30	5309	c.4272G>A	c.(4270-4272)ctG>ctA	p.L1424L	PTPRM_ENST00000444013.1_Silent_p.L1211L|PTPRM_ENST00000400060.4_Silent_p.L1438L|PTPRM_ENST00000580170.1_Silent_p.L1437L|PTPRM_ENST00000400053.4_Silent_p.L1362L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1424	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1424L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGAAGACACTGAGGAACAACA	0.567																																																	1	Substitution - coding silent(1)	cervix(1)						G	,	0,4406		0,0,2203	94.0	72.0	79.0		4311,4272	4.0	1.0	18		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1437/1466,1424/1453	8394576	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4272G>A	18.37:g.8394576G>A			A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L1438	ENST00000332175.8	37	c.4314	CCDS11840.1	18																																																																																			PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.567	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8394576	+1	no_errors	ENST00000400060	ensembl	human	known	70_37	silent	SNP	1.000	A
PTPRZ1	5803	genome.wustl.edu	37	7	121659177	121659177	+	Splice_Site	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:121659177G>C	ENST00000393386.2	+	13	5254		c.e13-1		PTPRZ1_ENST00000449182.1_Splice_Site	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTGACTACAGAGGCCAGTAA	0.423																																																	2	Unknown(2)	cervix(2)											117.0	109.0	112.0					7																	121659177		2202	4300	6502	SO:0001630	splice_region_variant	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4844-1G>C	7.37:g.121659177G>C			A4D0W5|C9JFM0|O76043|Q9UDR6	Splice_Site	SNP	-	e13-1	ENST00000393386.2	37	c.4844-1	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590764	0.86851	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1031	0.93282	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRZ1	121446413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.818000	0.91991	2.539000	0.85634	0.585000	0.79938	.	PTPRZ1	-	-		0.423	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	G	NM_002851	Intron	121659177	+1	no_errors	ENST00000393386	ensembl	human	known	70_37	splice_site	SNP	1.000	C
PTPRN2	5799	genome.wustl.edu	37	7	157926700	157926700	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:157926700G>C	ENST00000389418.4	-	9	1234	c.1225C>G	c.(1225-1227)Cga>Gga	p.R409G	PTPRN2_ENST00000409483.1_Missense_Mutation_p.R371G|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R392G|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R409G|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R432G	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	409					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R409G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGTAAGAGTCGAGACCCGTGG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											44.0	48.0	47.0					7																	157926700		2203	4300	6503	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1225C>G	7.37:g.157926700G>C	ENSP00000374069:p.Arg409Gly		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R432G	ENST00000389418.4	37	c.1294	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	G	5.574	0.290688	0.10567	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02837	4.15;4.14;4.15;4.15;4.14	3.74	3.74	0.42951	.	.	.	.	.	T	0.02156	0.0067	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.0;0.0	T	0.45338	-0.9268	9	0.23891	T	0.37	.	9.6806	0.40067	0.0:0.2133:0.7867:0.0	.	432;371;409;392;409	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	G	371;409;392;409;432	ENSP00000387114:R371G;ENSP00000374064:R409G;ENSP00000374067:R392G;ENSP00000374069:R409G;ENSP00000385464:R432G	ENSP00000374064:R409G	R	-	1	2	PTPRN2	157619461	0.915000	0.31059	0.004000	0.12327	0.013000	0.08279	2.819000	0.48049	1.783000	0.52377	0.471000	0.43371	CGA	PTPRN2	-	NULL		0.592	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	G			157926700	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	missense	SNP	0.005	C
PVRL3	25945	genome.wustl.edu	37	3	110852841	110852841	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:110852841C>G	ENST00000485303.1	+	6	1704	c.1429C>G	c.(1429-1431)Cca>Gca	p.P477A	PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	477					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.P477A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AAACAAAAATCCAGTGAACAA	0.328																																																	1	Substitution - Missense(1)	cervix(1)											35.0	38.0	37.0					3																	110852841		2200	4295	6495	SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1429C>G	3.37:g.110852841C>G	ENSP00000418070:p.Pro477Ala		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.P477A	ENST00000485303.1	37	c.1429	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039670	0.19669	.	.	ENSG00000177707	ENST00000485303	T	0.30714	1.52	5.8	5.8	0.92144	.	0.126462	0.56097	D	0.000032	T	0.26268	0.0641	L	0.50333	1.59	0.80722	D	1	P	0.39782	0.688	B	0.31442	0.13	T	0.06320	-1.0833	10	0.62326	D	0.03	.	12.4815	0.55844	0.167:0.833:0.0:0.0	.	477	Q9NQS3	PVRL3_HUMAN	A	477	ENSP00000418070:P477A	ENSP00000418070:P477A	P	+	1	0	PVRL3	112335531	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.905000	0.48727	2.734000	0.93682	0.460000	0.39030	CCA	PVRL3	-	NULL		0.328	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	C	NM_015480		110852841	+1	no_errors	ENST00000485303	ensembl	human	known	70_37	missense	SNP	1.000	G
PXDN	7837	genome.wustl.edu	37	2	1653335	1653335	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:1653335C>T	ENST00000252804.4	-	17	2267	c.2217G>A	c.(2215-2217)caG>caA	p.Q739Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	739					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Q739Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCCGGTACTTCTGGTGGAAGC	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											106.0	114.0	111.0					2																	1653335		2068	4198	6266	SO:0001819	synonymous_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2217G>A	2.37:g.1653335C>T			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.Q739	ENST00000252804.4	37	c.2217	CCDS46221.1	2																																																																																			PXDN	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.617	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455		1653335	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	silent	SNP	1.000	T
PXDN	7837	genome.wustl.edu	37	2	1677580	1677580	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:1677580C>T	ENST00000252804.4	-	9	903	c.853G>A	c.(853-855)Gag>Aag	p.E285K	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	285	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.E285K(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATGCTCAGCTCATTACTACAA	0.512																																																	1	Substitution - Missense(1)	cervix(1)											93.0	94.0	94.0					2																	1677580		2039	4193	6232	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.853G>A	2.37:g.1677580C>T	ENSP00000252804:p.Glu285Lys		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.E285K	ENST00000252804.4	37	c.853	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.216227|3.216227	0.58452|0.58452	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.66995|.	-0.24|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.200912|.	0.44688|.	D|.	0.000436|.	T|T	0.58250|0.58250	0.2109|0.2109	L|L	0.31926|0.31926	0.97|0.97	0.53688|0.53688	D|D	0.999978|0.999978	B;B|.	0.20368|.	0.036;0.044|.	B;B|.	0.24006|.	0.049;0.05|.	T|T	0.52990|0.52990	-0.8501|-0.8501	10|5	0.51188|.	T|.	0.08|.	-53.8653|-53.8653	17.3575|17.3575	0.87341|0.87341	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	285;285|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	K|I	285|280	ENSP00000252804:E285K|.	ENSP00000252804:E285K|.	E|M	-|-	1|3	0|0	PXDN|PXDN	1656587|1656587	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.343000|0.343000	0.28985|0.28985	7.683000|7.683000	0.84093|0.84093	2.583000|2.583000	0.87209|0.87209	0.561000|0.561000	0.74099|0.74099	GAG|ATG	PXDN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.512	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	C	XM_056455		1677580	-1	no_errors	ENST00000252804	ensembl	human	known	70_37	missense	SNP	1.000	T
PXK	54899	genome.wustl.edu	37	3	58394714	58394714	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:58394714G>C	ENST00000356151.2	+	14	1403	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	PXK_ENST00000479241.1_Missense_Mutation_p.E415Q|PXK_ENST00000463280.1_Missense_Mutation_p.E399Q|PXK_ENST00000536660.1_Missense_Mutation_p.E295Q|PXK_ENST00000383716.3_Missense_Mutation_p.E399Q|PXK_ENST00000383715.4_Missense_Mutation_p.E415Q|PXK_ENST00000484288.1_Missense_Mutation_p.E432Q|PXK_ENST00000302779.5_Missense_Mutation_p.E415Q	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase									p.E432Q(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GAGACTAATTGAGGAACAGAA	0.383																																																	2	Substitution - Missense(2)	cervix(2)											110.0	113.0	112.0					3																	58394714		2203	4300	6503	SO:0001583	missense	54899			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1294G>C	3.37:g.58394714G>C	ENSP00000348472:p.Glu432Gln			Missense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_cat_dom	p.E432Q	ENST00000356151.2	37	c.1294	CCDS2889.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.202147|4.202147	0.79127|0.79127	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750|ENST00000479134;ENST00000495557	T;T;T;T;T;T;T;T|.	0.35973|.	2.96;2.96;2.96;1.32;1.3;1.31;1.28;2.96|.	6.05|6.05	6.05|6.05	0.98169|0.98169	Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75398|0.75398	0.3844|0.3844	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.999;1.0;0.999;1.0;0.999;0.999|.	D;D;D;D;D;D|.	0.78314|.	0.977;0.991;0.977;0.985;0.961;0.961|.	T|T	0.72235|0.72235	-0.4352|-0.4352	10|5	0.44086|.	T|.	0.13|.	-20.6579|-20.6579	18.7795|18.7795	0.91926|0.91926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	399;399;399;432;415;432|.	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2|.	.;.;.;PXK_HUMAN;.;.|.	Q|F	432;415;399;399;415;432;415;295;295|186;3	ENSP00000348472:E432Q;ENSP00000305045:E415Q;ENSP00000373222:E399Q;ENSP00000417903:E399Q;ENSP00000373221:E415Q;ENSP00000417915:E432Q;ENSP00000419049:E415Q;ENSP00000438356:E295Q|.	ENSP00000305045:E415Q|.	E|L	+|+	1|3	0|2	PXK|PXK	58369754|58369754	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.665000|0.665000	0.39181|0.39181	7.001000|7.001000	0.76297|0.76297	2.871000|2.871000	0.98454|0.98454	0.637000|0.637000	0.83480|0.83480	GAG|TTG	PXK	-	pfscan_Prot_kinase_cat_dom		0.383	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	G	NM_017771		58394714	+1	no_errors	ENST00000356151	ensembl	human	known	70_37	missense	SNP	0.999	C
PYGL	5836	genome.wustl.edu	37	14	51404508	51404508	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:51404508C>T	ENST00000216392.7	-	2	623	c.291G>A	c.(289-291)caG>caA	p.Q97Q	PYGL_ENST00000544180.2_Intron|PYGL_ENST00000532462.1_Silent_p.Q97Q	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	97					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.Q97Q(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TCATGGTGTTCTGTAATGTTC	0.398																																																	1	Substitution - coding silent(1)	cervix(1)											173.0	158.0	163.0					14																	51404508		2203	4300	6503	SO:0001819	synonymous_variant	5836				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.291G>A	14.37:g.51404508C>T			A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.Q97	ENST00000216392.7	37	c.291	CCDS32080.1	14																																																																																			PYGL	-	pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.398	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGL	HGNC	protein_coding	OTTHUMT00000390654.3	C	NM_002863		51404508	-1	no_errors	ENST00000216392	ensembl	human	known	70_37	silent	SNP	1.000	T
QPCTL	54814	genome.wustl.edu	37	19	46198872	46198873	+	Missense_Mutation	DNP	GG	GG	AT	rs376175267		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:46198872_46198873GG>AT	ENST00000012049.5	+	3	750_751	c.529_530GG>AT	c.(529-531)GGa>ATa	p.G177I	QPCTL_ENST00000366382.4_Intron	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	177					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.G177V(1)|p.G177R(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CTTCCCACCCGGATCGACCCCC	0.624																																																	2	Substitution - Missense(2)	cervix(2)																																								SO:0001583	missense	54814			AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	Exception_encountered	19.37:g.46198872_46198873delinsAT	ENSP00000012049:p.Gly177Ile		Q53HE4|Q96F74	Missense_Mutation	SNP	pfam_Peptidase_M28	p.G177R|p.G177V	ENST00000012049.5	37	c.529|c.530	CCDS12672.1	19																																																																																			QPCTL	-	pfam_Peptidase_M28		0.624	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCTL	HGNC	protein_coding	OTTHUMT00000459656.1	G	NM_017659		46198872|46198873	+1	no_errors	ENST00000012049	ensembl	human	known	70_37	missense	SNP	0.020|0.001	A|T
QRFP	347148	genome.wustl.edu	37	9	133769049	133769049	+	Silent	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:133769049C>A	ENST00000343079.1	-	1	176	c.177G>T	c.(175-177)ctG>ctT	p.L59L		NM_198180.1	NP_937823.1			pyroglutamylated RFamide peptide									p.L59L(1)		cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		GTGAAGCTCTCAGCCACCGAG	0.672																																																	1	Substitution - coding silent(1)	cervix(1)											32.0	34.0	33.0					9																	133769049		2203	4299	6502	SO:0001819	synonymous_variant	347148			AB109625	CCDS6936.1	9q34.12	2013-02-28			ENSG00000188710	ENSG00000188710		"""Endogenous ligands"""	29982	protein-coding gene	gene with protein product	"""prepro-QRFP"""	609795				12714592, 15808908	Standard	NM_198180		Approved	26RFa, P518	uc011mcb.2	P83859	OTTHUMG00000131663	ENST00000343079.1:c.177G>T	9.37:g.133769049C>A				Silent	SNP	pfam_P518	p.L59	ENST00000343079.1	37	c.177	CCDS6936.1	9																																																																																			QRFP	-	pfam_P518		0.672	QRFP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	QRFP	HGNC	protein_coding	OTTHUMT00000254566.1	C	NM_198180		133769049	-1	no_errors	ENST00000343079	ensembl	human	known	70_37	silent	SNP	0.000	A
RAB11A	8766	genome.wustl.edu	37	15	66180230	66180230	+	3'UTR	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:66180230G>C	ENST00000261890.2	+	0	831				RAB11A_ENST00000564910.1_3'UTR|RAB11A_ENST00000569896.1_3'UTR	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family						cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						TCCCAGGTCTGAGATTTAAAT	0.353																																																	0													40.0	41.0	41.0					15																	66180230		1325	2308	3633	SO:0001624	3_prime_UTR_variant	8766			X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.*52G>C	15.37:g.66180230G>C			B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	RNA	SNP	-	NULL	ENST00000261890.2	37	NULL	CCDS10212.1	15																																																																																			RAB11A	-	-		0.353	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11A	HGNC	protein_coding	OTTHUMT00000256864.1	G			66180230	+1	no_errors	ENST00000569304	ensembl	human	putative	70_37	rna	SNP	1.000	C
RAB11FIP2	22841	genome.wustl.edu	37	10	119805360	119805360	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:119805360G>C	ENST00000355624.3	-	1	754	c.315C>G	c.(313-315)ctC>ctG	p.L105L	CASC2_ENST00000426021.1_RNA|CASC2_ENST00000454781.1_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.L105L|CASC2_ENST00000454857.1_RNA|RP11-354M20.3_ENST00000451610.2_RNA|CASC2_ENST00000414722.1_RNA|CASC2_ENST00000435944.1_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	105					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.L105L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		AGATGTCATTGAGATTGATTG	0.348																																																	1	Substitution - coding silent(1)	cervix(1)											60.0	60.0	60.0					10																	119805360		2203	4300	6503	SO:0001819	synonymous_variant	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.315C>G	10.37:g.119805360G>C			A6NEI4|Q3I768|Q9Y2F0	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L105	ENST00000355624.3	37	c.315	CCDS7602.1	10																																																																																			RAB11FIP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.348	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	G	NM_014904		119805360	-1	no_errors	ENST00000369199	ensembl	human	known	70_37	silent	SNP	1.000	C
RAB11FIP5	26056	genome.wustl.edu	37	2	73315528	73315528	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:73315528C>G	ENST00000258098.6	-	3	1458	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	406					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.L406L(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCTGAGCACTCAGCTCCTCCT	0.657																																																	1	Substitution - coding silent(1)	cervix(1)											43.0	45.0	44.0					2																	73315528		2203	4300	6503	SO:0001819	synonymous_variant	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1218G>C	2.37:g.73315528C>G			O94939|Q9P0M1	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L406	ENST00000258098.6	37	c.1218	CCDS1923.1	2																																																																																			RAB11FIP5	-	NULL		0.657	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	HGNC	protein_coding	OTTHUMT00000251995.1	C	NM_015470		73315528	-1	no_errors	ENST00000258098	ensembl	human	known	70_37	silent	SNP	0.293	G
RAB3D	9545	genome.wustl.edu	37	19	11446153	11446153	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:11446153C>T	ENST00000222120.3	-	4	702	c.442G>A	c.(442-444)Gag>Aag	p.E148K	RAB3D_ENST00000589655.1_Missense_Mutation_p.E148K	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	148					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.E148K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CGGCCATCCTCAGCAGGCACA	0.612																																																	1	Substitution - Missense(1)	cervix(1)											82.0	66.0	72.0					19																	11446153		2203	4300	6503	SO:0001583	missense	9545			AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.442G>A	19.37:g.11446153C>T	ENSP00000222120:p.Glu148Lys			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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.E148K	ENST00000222120.3	37	c.442	CCDS12257.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.079676	0.94050	.	.	ENSG00000105514	ENST00000222120	T	0.78126	-1.15	4.62	4.62	0.57501	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	L	0.54965	1.715	0.80722	D	1	P	0.35208	0.49	P	0.50970	0.655	D	0.84339	0.0526	10	0.62326	D	0.03	.	16.747	0.85475	0.0:1.0:0.0:0.0	.	148	O95716	RAB3D_HUMAN	K	148	ENSP00000222120:E148K	ENSP00000222120:E148K	E	-	1	0	RAB3D	11307153	1.000000	0.71417	0.952000	0.39060	0.688000	0.40055	7.535000	0.82014	2.575000	0.86900	0.448000	0.29417	GAG	RAB3D	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.612	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3D	HGNC	protein_coding	OTTHUMT00000453211.1	C	NM_004283		11446153	-1	no_errors	ENST00000222120	ensembl	human	known	70_37	missense	SNP	1.000	T
RAC1	5879	genome.wustl.edu	37	7	6441588	6441588	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:6441588C>T	ENST00000348035.4	+	5	591	c.378C>T	c.(376-378)atC>atT	p.I126I	RAC1_ENST00000356142.4_Silent_p.I145I|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	126					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.I145I(1)|p.I126I(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	AAGACACGATCGAGAAACTGA	0.483																																																	2	Substitution - coding silent(2)	cervix(2)											179.0	147.0	158.0					7																	6441588		2203	4300	6503	SO:0001819	synonymous_variant	5879			AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.378C>T	7.37:g.6441588C>T			O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I145	ENST00000348035.4	37	c.435	CCDS5348.1	7																																																																																			RAC1	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho		0.483	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAC1	HGNC	protein_coding	OTTHUMT00000242868.2	C	NM_018890		6441588	+1	no_errors	ENST00000356142	ensembl	human	known	70_37	silent	SNP	0.074	T
RAD51D	5892	genome.wustl.edu	37	17	33446700	33446700	+	5'UTR	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:33446700C>G	ENST00000345365.6	-	0	188				RAD51D_ENST00000460118.2_5'UTR|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_5'UTR|RAD51D_ENST00000394589.4_5'UTR|RAD51D_ENST00000357906.3_5'UTR|RAD51D_ENST00000360276.3_5'UTR|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000590016.1_5'UTR|FNDC8_ENST00000158009.5_5'Flank	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D						ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGGGTCCTCTCCAGACGCCCC	0.697								Direct reversal of damage																																									0																																										SO:0001623	5_prime_UTR_variant	5892			AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.-68G>C	17.37:g.33446700C>G			B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	RNA	SNP	-	NULL	ENST00000345365.6	37	NULL	CCDS11287.1	17																																																																																			RAD51D	-	-		0.697	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51D	HGNC	protein_coding	OTTHUMT00000256446.1	C	NM_002878		33446700	-1	no_errors	ENST00000590380	ensembl	human	known	70_37	rna	SNP	0.002	G
RAET1E	135250	genome.wustl.edu	37	6	150210680	150210680	+	Silent	SNP	G	G	C	rs572045980		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:150210680G>C	ENST00000357183.4	-	3	558	c.426C>G	c.(424-426)acC>acG	p.T142T	RAET1E_ENST00000367363.3_Silent_p.T106T|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Silent_p.T142T|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000532335.1_Silent_p.T142T	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	142	MHC class I alpha-2 like.		T -> I (in dbSNP:rs9371533).	AT -> TI (in Ref. 8; AAL76417). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.T142T(2)		cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCTCTCCATTGGTGGCGAACT	0.473																																																	2	Substitution - coding silent(2)	cervix(1)|kidney(1)											156.0	128.0	137.0					6																	150210680		2203	4300	6503	SO:0001819	synonymous_variant	135250			AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.426C>G	6.37:g.150210680G>C			A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	superfamily_MHC_I/II-like_Ag-recog	p.P107R	ENST00000357183.4	37	c.320	CCDS5221.1	6																																																																																			RAET1E	-	NULL		0.473	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAET1E	HGNC	protein_coding	OTTHUMT00000042659.1	G	NM_139165		150210680	-1	no_errors	ENST00000392270	ensembl	human	known	70_37	missense	SNP	0.000	C
RALGAPA1	253959	genome.wustl.edu	37	14	36125063	36125063	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:36125063G>A	ENST00000389698.3	-	28	4318	c.3928C>T	c.(3928-3930)Cat>Tat	p.H1310Y	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.H1310Y|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.H1357Y|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.H1323Y	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1310					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H1310Y(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGAGGATGATGAGACTCATGG	0.333																																																	2	Substitution - Missense(2)	cervix(2)											115.0	116.0	115.0					14																	36125063		2203	4296	6499	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3928C>T	14.37:g.36125063G>A	ENSP00000374348:p.His1310Tyr		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.H1357Y	ENST00000389698.3	37	c.4069	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140443	0.56936	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.35	5.35	0.76521	.	0.147752	0.64402	D	0.000008	T	0.58524	0.2128	L	0.29908	0.895	0.45515	D	0.998472	D;B;P;B	0.53619	0.961;0.233;0.89;0.006	P;B;B;B	0.47206	0.541;0.157;0.331;0.008	T	0.57289	-0.7837	10	0.02654	T	1	-14.9087	19.06	0.93085	0.0:0.0:1.0:0.0	.	1357;1323;1310;1310	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	Y	1310;1310;1310;1357;1323;1357	ENSP00000374348:H1310Y;ENSP00000302647:H1310Y;ENSP00000258840:H1357Y;ENSP00000371803:H1323Y;ENSP00000451877:H1357Y	ENSP00000258840:H1357Y	H	-	1	0	RALGAPA1	35194814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.160000	0.71862	2.484000	0.83849	0.650000	0.86243	CAT	RALGAPA1	-	superfamily_ARM-type_fold		0.333	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	G	XM_210022		36125063	-1	no_errors	ENST00000258840	ensembl	human	known	70_37	missense	SNP	1.000	A
RARS2	57038	genome.wustl.edu	37	6	88265199	88265199	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:88265199C>G	ENST00000369536.5	-	5	367	c.322G>C	c.(322-324)Gat>Cat	p.D108H		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	108					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.D108H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTTGAGCCATCTTCAATTACT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											104.0	100.0	102.0					6																	88265199		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.322G>C	6.37:g.88265199C>G	ENSP00000358549:p.Asp108His		B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.D108H	ENST00000369536.5	37	c.322	CCDS5011.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.47|16.47	3.131507|3.131507	0.56828|0.56828	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000369536;ENST00000369523|ENST00000451155	T|.	0.72835|.	-0.69|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Arginyl tRNA synthetase, class Ia, N-terminal (2);|.	0.143591|.	0.64402|.	D|.	0.000009|.	T|T	0.70107|0.70107	0.3186|0.3186	M|M	0.69523|0.69523	2.12|2.12	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.22851|.	0.076|.	B|.	0.28139|.	0.086|.	T|T	0.68217|0.68217	-0.5467|-0.5467	10|5	0.72032|.	D|.	0.01|.	.|.	18.5727|18.5727	0.91142|0.91142	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108|.	Q5T160|.	SYRM_HUMAN|.	H|N	108;135|135	ENSP00000358549:D108H|.	ENSP00000358536:D135H|.	D|K	-|-	1|3	0|2	RARS2|RARS2	88321918|88321918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.805000|2.805000	0.47939|0.47939	2.676000|2.676000	0.91093|0.91093	0.586000|0.586000	0.80456|0.80456	GAT|AAG	RARS2	-	superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia		0.338	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	C	NM_020320		88265199	-1	no_errors	ENST00000369536	ensembl	human	known	70_37	missense	SNP	1.000	G
RASGRP4	115727	genome.wustl.edu	37	19	38910838	38910838	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:38910838G>C	ENST00000587738.1	-	5	512	c.442C>G	c.(442-444)Cgt>Ggt	p.R148G	RASGRP4_ENST00000587753.1_Missense_Mutation_p.R148G|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R148G|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R148G|RASGRP4_ENST00000454404.2_Missense_Mutation_p.R148G|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R148G|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R148G			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	148	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R148G(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCAGAAACGACCTATGACT	0.602																																																	1	Substitution - Missense(1)	cervix(1)											33.0	40.0	38.0					19																	38910838		1975	4151	6126	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.442C>G	19.37:g.38910838G>C	ENSP00000465772:p.Arg148Gly		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.R148G	ENST00000587738.1	37	c.442	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568748	0.45798	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	4.34	3.24	0.37175	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.202350	0.42294	D	0.000735	T	0.21761	0.0524	L	0.43152	1.355	0.23848	N	0.996674	B;B;B;P;B;B;P	0.40144	0.145;0.145;0.176;0.704;0.082;0.252;0.704	B;B;B;B;B;B;B	0.36608	0.07;0.07;0.057;0.1;0.057;0.229;0.1	T	0.15578	-1.0432	10	0.49607	T	0.09	-22.3692	6.491	0.22115	0.0:0.1821:0.6024:0.2155	.	148;148;148;148;148;148;148	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	G	148	ENSP00000411878:R148G;ENSP00000293062:R148G;ENSP00000445966:R148G;ENSP00000416463:R148G	ENSP00000293062:R148G	R	-	1	0	RASGRP4	43602678	1.000000	0.71417	0.909000	0.35828	0.927000	0.56198	3.927000	0.56499	2.251000	0.74343	0.491000	0.48974	CGT	RASGRP4	-	superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N		0.602	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	G	NM_170604		38910838	-1	no_errors	ENST00000587738	ensembl	human	known	70_37	missense	SNP	0.934	C
RASSF3	283349	genome.wustl.edu	37	12	65082182	65082182	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:65082182G>A	ENST00000542104.1	+	3	526	c.406G>A	c.(406-408)Gag>Aag	p.E136K	RASSF3_ENST00000336061.2_Missense_Mutation_p.E136K	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	136	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.E136K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		TCTCGTGACTGAGAGCCCTGC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											106.0	102.0	104.0					12																	65082182		2203	4300	6503	SO:0001583	missense	283349				CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.406G>A	12.37:g.65082182G>A	ENSP00000443021:p.Glu136Lys		Q86WH1	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.E136K	ENST00000542104.1	37	c.406	CCDS8969.1	12	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560130	0.86335	.	.	ENSG00000153179	ENST00000542104;ENST00000336061;ENST00000541539	T;T	0.19105	2.17;2.17	5.24	5.24	0.73138	Ras-association (3);	0.102584	0.64402	D	0.000005	T	0.17195	0.0413	N	0.14661	0.345	0.52099	D	0.999948	P	0.44521	0.837	B	0.43331	0.416	T	0.04565	-1.0942	9	.	.	.	-18.5298	19.2259	0.93817	0.0:0.0:1.0:0.0	.	136	Q86WH2	RASF3_HUMAN	K	136;136;66	ENSP00000443021:E136K;ENSP00000336616:E136K	.	E	+	1	0	RASSF3	63368449	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	8.883000	0.92426	2.614000	0.88457	0.655000	0.94253	GAG	RASSF3	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.478	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF3	HGNC	protein_coding	OTTHUMT00000401161.1	G			65082182	+1	no_errors	ENST00000336061	ensembl	human	known	70_37	missense	SNP	1.000	A
RB1CC1	9821	genome.wustl.edu	37	8	53569888	53569888	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:53569888G>C	ENST00000025008.5	-	15	3024	c.2501C>G	c.(2500-2502)tCa>tGa	p.S834*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.S834*|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.S834*|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	834					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.S834*(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TAATGAATTTGAGAAGTCACA	0.308																																					GBM(180;1701 2102 13475 42023 52570)												1	Substitution - Nonsense(1)	cervix(1)											87.0	86.0	87.0					8																	53569888		2203	4299	6502	SO:0001587	stop_gained	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2501C>G	8.37:g.53569888G>C	ENSP00000025008:p.Ser834*		Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	pfam_Autophagy-rel_p11	p.S834*	ENST00000025008.5	37	c.2501	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.627786	0.99223	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	5.28	5.28	0.74379	.	0.501136	0.20790	N	0.085629	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-4.2437	19.2713	0.94011	0.0:0.0:1.0:0.0	.	.	.	.	X	834	.	ENSP00000025008:S834X	S	-	2	0	RB1CC1	53732441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.505000	0.60421	2.613000	0.88420	0.563000	0.77884	TCA	RB1CC1	-	NULL		0.308	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	G	NM_014781		53569888	-1	no_errors	ENST00000025008	ensembl	human	known	70_37	nonsense	SNP	0.991	C
RB1CC1	9821	genome.wustl.edu	37	8	53586728	53586728	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:53586728C>G	ENST00000025008.5	-	7	1202	c.679G>C	c.(679-681)Gaa>Caa	p.E227Q	RB1CC1_ENST00000539297.1_Missense_Mutation_p.E227Q|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E227Q|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	227					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.E227Q(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCTGAGTCTTCATGTTCAGGT	0.413																																					GBM(180;1701 2102 13475 42023 52570)												1	Substitution - Missense(1)	cervix(1)											215.0	205.0	208.0					8																	53586728		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.679G>C	8.37:g.53586728C>G	ENSP00000025008:p.Glu227Gln		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.E227Q	ENST00000025008.5	37	c.679	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	C	10.20	1.286081	0.23478	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15017	2.46;2.46;2.46	5.36	5.36	0.76844	.	0.224065	0.41294	D	0.000901	T	0.11793	0.0287	N	0.13098	0.295	0.40624	D	0.98179	B;B	0.30361	0.277;0.181	B;B	0.34779	0.189;0.092	T	0.26503	-1.0101	10	0.16896	T	0.51	-13.7229	14.309	0.66403	0.1485:0.8515:0.0:0.0	.	227;227	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	Q	227	ENSP00000025008:E227Q;ENSP00000396067:E227Q;ENSP00000445960:E227Q	ENSP00000025008:E227Q	E	-	1	0	RB1CC1	53749281	1.000000	0.71417	0.928000	0.36995	0.471000	0.32888	4.430000	0.59907	2.663000	0.90544	0.467000	0.42956	GAA	RB1CC1	-	NULL		0.413	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	C	NM_014781		53586728	-1	no_errors	ENST00000025008	ensembl	human	known	70_37	missense	SNP	0.998	G
RBM10	8241	genome.wustl.edu	37	X	47034434	47034434	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:47034434C>T	ENST00000377604.3	+	6	1261	c.519C>T	c.(517-519)ttC>ttT	p.F173F	RBM10_ENST00000329236.7_Silent_p.F96F|RBM10_ENST00000345781.6_Silent_p.F96F	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	173	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.F173F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCCGGGGCTTCGCCTTCGTCG	0.577																																					Melanoma(171;120 2705 19495 39241)												1	Substitution - coding silent(1)	cervix(1)											87.0	74.0	79.0					X																	47034434		2203	4300	6503	SO:0001819	synonymous_variant	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.519C>T	X.37:g.47034434C>T			C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.F173	ENST00000377604.3	37	c.519	CCDS14274.1	X																																																																																			RBM10	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.577	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	C	NM_005676		47034434	+1	no_errors	ENST00000377604	ensembl	human	known	70_37	silent	SNP	1.000	T
RBM15	64783	genome.wustl.edu	37	1	110882622	110882622	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:110882622G>T	ENST00000369784.3	+	1	1495	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	RBM15_ENST00000487146.2_Missense_Mutation_p.D199Y|RBM15_ENST00000602849.1_Missense_Mutation_p.D199Y|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	199	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D199Y(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACGCTTCGGTGATGTAAGTGT	0.577			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	1	Substitution - Missense(1)	cervix(1)											78.0	79.0	79.0					1																	110882622		2203	4300	6503	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.595G>T	1.37:g.110882622G>T	ENSP00000358799:p.Asp199Tyr	1430	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D199Y	ENST00000369784.3	37	c.595	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283729	0.80803	.	.	ENSG00000162775	ENST00000369784	T	0.45276	0.9	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.48286	D	0.000194	T	0.59959	0.2232	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.62982	-0.6738	10	0.87932	D	0	-12.0455	18.5182	0.90942	0.0:0.0:1.0:0.0	.	199;199	Q96T37-3;Q96T37	.;RBM15_HUMAN	Y	199	ENSP00000358799:D199Y	ENSP00000358799:D199Y	D	+	1	0	RBM15	110684145	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.965000	0.93393	2.706000	0.92434	0.655000	0.94253	GAT	RBM15	-	smart_RRM_dom,pfscan_RRM_dom		0.577	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	G	NM_022768		110882622	+1	no_errors	ENST00000369784	ensembl	human	known	70_37	missense	SNP	1.000	T
RBM15	64783	genome.wustl.edu	37	1	110882687	110882687	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:110882687G>A	ENST00000369784.3	+	1	1560	c.660G>A	c.(658-660)gtG>gtA	p.V220V	RBM15_ENST00000487146.2_Silent_p.V220V|RBM15_ENST00000602849.1_Silent_p.V220V|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	220	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V220V(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TAGCCTTTGTGAACTTCCGGC	0.582			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	1	Substitution - coding silent(1)	cervix(1)											48.0	52.0	51.0					1																	110882687		2203	4300	6503	SO:0001819	synonymous_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.660G>A	1.37:g.110882687G>A		1430	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V220	ENST00000369784.3	37	c.660	CCDS822.1	1																																																																																			RBM15	-	smart_RRM_dom,pfscan_RRM_dom		0.582	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	G	NM_022768		110882687	+1	no_errors	ENST00000369784	ensembl	human	known	70_37	silent	SNP	1.000	A
RBM17	84991	genome.wustl.edu	37	10	6154309	6154309	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:6154309G>A	ENST00000446108.1	+	8	1485	c.841G>A	c.(841-843)Gac>Aac	p.D281N	RBM17_ENST00000379888.4_Missense_Mutation_p.D281N	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	281	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D281N(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CATCGTGGGCGACGCCACAGA	0.597																																																	1	Substitution - Missense(1)	cervix(1)											45.0	37.0	39.0					10																	6154309		2203	4300	6503	SO:0001583	missense	84991			AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.841G>A	10.37:g.6154309G>A	ENSP00000388638:p.Asp281Asn		Q96GY6	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom	p.D281N	ENST00000446108.1	37	c.841	CCDS7077.1	10	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404216	0.83230	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	5.58	5.58	0.84498	.	0.182262	0.56097	D	0.000025	T	0.41328	0.1154	N	0.11927	0.2	0.80722	D	1	B	0.25743	0.133	B	0.18871	0.023	T	0.23511	-1.0186	9	0.20519	T	0.43	-11.2397	19.5496	0.95312	0.0:0.0:1.0:0.0	.	281	Q96I25	SPF45_HUMAN	N	281	.	ENSP00000369218:D281N	D	+	1	0	RBM17	6194315	1.000000	0.71417	0.202000	0.23494	0.362000	0.29581	9.546000	0.98097	2.623000	0.88846	0.462000	0.41574	GAC	RBM17	-	pirsf_Splicing_factor_SPF45		0.597	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM17	HGNC	protein_coding	OTTHUMT00000046635.1	G	NM_032905		6154309	+1	no_errors	ENST00000379888	ensembl	human	known	70_37	missense	SNP	0.996	A
RBM26	64062	genome.wustl.edu	37	13	79916921	79916921	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:79916921C>G	ENST00000438737.2	-	17	2745	c.2305G>C	c.(2305-2307)Gat>Cat	p.D769H	RBM26_ENST00000438724.1_Missense_Mutation_p.D745H|RBM26_ENST00000267229.7_Missense_Mutation_p.D742H			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	769					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D769H(1)|p.D742H(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCTGCTTTATCTTCAGACTTC	0.303																																																	2	Substitution - Missense(2)	cervix(2)											82.0	85.0	84.0					13																	79916921		2203	4298	6501	SO:0001583	missense	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2305G>C	13.37:g.79916921C>G	ENSP00000387531:p.Asp769His		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.D769H	ENST00000438737.2	37	c.2305		13	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417433	0.83449	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	D;D	0.91792	-1.94;-2.91	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.95204	0.8445	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.997;0.999	D	0.94289	0.7527	9	.	.	.	-18.8875	19.2247	0.93814	0.0:1.0:0.0:0.0	.	126;745;769;742	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	H	742;770;769;745	ENSP00000267229:D742H;ENSP00000390222:D745H	.	D	-	1	0	RBM26	78814922	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.249000	0.78278	2.602000	0.87976	0.467000	0.42956	GAT	RBM26	-	NULL		0.303	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	C	NM_022118		79916921	-1	no_errors	ENST00000327303	ensembl	human	known	70_37	missense	SNP	1.000	G
RBM33	155435	genome.wustl.edu	37	7	155473423	155473423	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:155473423C>T	ENST00000401878.3	+	5	586	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	RBM33_ENST00000392759.3_Missense_Mutation_p.H130Y|RBM33_ENST00000287912.3_Missense_Mutation_p.H130Y	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	130	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H130Y(3)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ACTGGTTTATCACAAATCTGA	0.403																																																	3	Substitution - Missense(3)	cervix(3)											107.0	102.0	104.0					7																	155473423		1967	4147	6114	SO:0001583	missense	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.388C>T	7.37:g.155473423C>T	ENSP00000384160:p.His130Tyr		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	smart_RRM_dom	p.H130Y	ENST00000401878.3	37	c.388	CCDS5941.2	7	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231815	0.39399	.	.	ENSG00000184863	ENST00000287912;ENST00000401878;ENST00000392759;ENST00000440108	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.08	5.08	0.68730	.	.	.	.	.	T	0.26195	0.0639	N	0.22421	0.69	0.80722	D	1	B;D	0.53745	0.023;0.962	B;P	0.48840	0.009;0.592	T	0.01715	-1.1289	9	0.19590	T	0.45	.	12.5585	0.56267	0.0:0.7786:0.2214:0.0	.	130;130	Q96EV2;Q96EV2-2	RBM33_HUMAN;.	Y	130;130;130;21	ENSP00000287912:H130Y;ENSP00000384160:H130Y;ENSP00000376513:H130Y;ENSP00000394987:H21Y	ENSP00000287912:H130Y	H	+	1	0	RBM33	155166184	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.954000	0.70298	2.365000	0.80145	0.563000	0.77884	CAC	RBM33	-	NULL		0.403	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3	C	NM_001008408		155473423	+1	no_errors	ENST00000401878	ensembl	human	known	70_37	missense	SNP	1.000	T
RBM5	10181	genome.wustl.edu	37	3	50137419	50137419	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:50137419G>C	ENST00000347869.3	+	5	519	c.344G>C	c.(343-345)cGa>cCa	p.R115P	RBM5_ENST00000469838.1_Missense_Mutation_p.R115P	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	115	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R115P(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGCAGATTCGAGAAATGATG	0.413																																																	1	Substitution - Missense(1)	cervix(1)											94.0	82.0	86.0					3																	50137419		2203	4300	6503	SO:0001583	missense	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.344G>C	3.37:g.50137419G>C	ENSP00000343054:p.Arg115Pro		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R115P	ENST00000347869.3	37	c.344	CCDS2810.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009262	0.75046	.	.	ENSG00000003756	ENST00000347869;ENST00000469838;ENST00000441305;ENST00000417905;ENST00000543047;ENST00000539538	T;T;T;T	0.50277	2.91;0.75;0.75;0.75	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.136231	0.51477	D	0.000099	T	0.79341	0.4429	H	0.97023	3.925	0.80722	D	1	D;D	0.71674	0.996;0.998	P;P	0.62184	0.879;0.899	D	0.85835	0.1394	9	.	.	.	-7.1348	20.1802	0.98196	0.0:0.0:1.0:0.0	.	115;115	P52756;E1CJT4	RBM5_HUMAN;.	P	115;115;115;115;114;114	ENSP00000343054:R115P;ENSP00000419534:R115P;ENSP00000390711:R115P;ENSP00000406119:R115P	.	R	+	2	0	RBM5	50112423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.353000	0.97080	2.777000	0.95525	0.655000	0.94253	CGA	RBM5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.413	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3	G	NM_005778		50137419	+1	no_errors	ENST00000347869	ensembl	human	known	70_37	missense	SNP	1.000	C
RBM5	10181	genome.wustl.edu	37	3	50151469	50151469	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:50151469G>C	ENST00000347869.3	+	19	1879	c.1704G>C	c.(1702-1704)ttG>ttC	p.L568F	RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	568	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L568F(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCAATTCCTTGAGGGAAGAAG	0.423																																																	1	Substitution - Missense(1)	cervix(1)											56.0	60.0	59.0					3																	50151469		2202	4300	6502	SO:0001583	missense	10181			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1704G>C	3.37:g.50151469G>C	ENSP00000343054:p.Leu568Phe		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.L568F	ENST00000347869.3	37	c.1704	CCDS2810.1	3	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036610	0.35893	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.16324	2.35	5.48	5.48	0.80851	.	0.296548	0.28104	N	0.016596	T	0.19366	0.0465	L	0.46157	1.445	0.80722	D	1	B;B	0.25955	0.052;0.138	B;B	0.24848	0.021;0.056	T	0.01679	-1.1297	10	0.46703	T	0.11	-2.491	16.8836	0.86070	0.0:0.0:1.0:0.0	.	258;568	Q59HE6;P52756	.;RBM5_HUMAN	F	568;567;258	ENSP00000343054:L568F	ENSP00000343054:L568F	L	+	3	2	RBM5	50126473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.976000	0.29462	2.579000	0.87056	0.555000	0.69702	TTG	RBM5	-	NULL		0.423	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3	G	NM_005778		50151469	+1	no_errors	ENST00000347869	ensembl	human	known	70_37	missense	SNP	1.000	C
RBP3	5949	genome.wustl.edu	37	10	48390628	48390628	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:48390628C>T	ENST00000224600.4	-	1	363	c.250G>A	c.(250-252)Gat>Aat	p.D84N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	84	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.D84N(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGCGAGGATCGTTCAGGGAG	0.617																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											57.0	61.0	60.0					10																	48390628		2203	4300	6503	SO:0001583	missense	5949			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.250G>A	10.37:g.48390628C>T	ENSP00000224600:p.Asp84Asn		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.D84N	ENST00000224600.4	37	c.250	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861180	0.91433	.	.	ENSG00000107618	ENST00000224600	T	0.69435	-0.4	5.71	5.71	0.89125	Interphotoreceptor retinol-binding, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91861	0.5499	10	0.87932	D	0	-53.1888	18.848	0.92215	0.0:1.0:0.0:0.0	.	84	P10745	RET3_HUMAN	N	84	ENSP00000224600:D84N	ENSP00000224600:D84N	D	-	1	0	RBP3	48010634	1.000000	0.71417	0.973000	0.42090	0.642000	0.38348	5.714000	0.68422	2.710000	0.92621	0.655000	0.94253	GAT	RBP3	-	pfam_Interphotorcpt_retinol-bd_N		0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	C	NM_002900		48390628	-1	no_errors	ENST00000224600	ensembl	human	known	70_37	missense	SNP	1.000	T
RBPJ	3516	genome.wustl.edu	37	4	26364133	26364133	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:26364133C>G	ENST00000361572.6	+	2	253				RBPJ_ENST00000355476.3_5'UTR|RBPJ_ENST00000345843.3_Intron|RBPJ_ENST00000348160.4_Intron|RBPJ_ENST00000342320.4_5'UTR|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000507561.1_Intron|RBPJ_ENST00000342295.1_Intron|RBPJ_ENST00000504907.1_5'UTR			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region						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)				ATTATGATCTCAAAACGAAAG	0.358																																																	0																																										SO:0001627	intron_variant	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.60-23842C>G	4.37:g.26364133C>G			B4DY22|Q5XKH9|Q6P1N3	RNA	SNP	-	NULL	ENST00000361572.6	37	NULL	CCDS3437.1	4																																																																																			RBPJ	-	-		0.358	RBPJ-002	KNOWN	basic|CCDS	protein_coding	RBPJ	HGNC	protein_coding	OTTHUMT00000215046.2	C	NM_015874		26364133	+1	no_errors	ENST00000511401	ensembl	human	known	70_37	rna	SNP	1.000	G
RCAN3	11123	genome.wustl.edu	37	1	24861651	24861651	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:24861651G>A	ENST00000374395.4	+	5	923	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RCAN3_ENST00000436717.2_Missense_Mutation_p.E194K|RCAN3_ENST00000538532.1_Missense_Mutation_p.E146K|RCAN3_ENST00000374393.2_Silent_p.V88V|RCAN3_ENST00000412742.2_Silent_p.V146V	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	204					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)	p.E204K(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		CTGTGAAAGTGAAACTGAAGA	0.502																																																	1	Substitution - Missense(1)	cervix(1)											49.0	51.0	51.0					1																	24861651		2203	4300	6503	SO:0001583	missense	11123				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.610G>A	1.37:g.24861651G>A	ENSP00000363516:p.Glu204Lys		A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	pfam_Calcipressin	p.E204K	ENST00000374395.4	37	c.610	CCDS254.1	1	.	.	.	.	.	.	.	.	.	.	G	37	5.998998	0.97189	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000538532	T;T;T	0.46819	0.87;0.89;0.86	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	M	0.64997	1.995	0.80722	D	1	D;P;D	0.76494	0.997;0.944;0.999	D;P;D	0.85130	0.973;0.81;0.997	T	0.65845	-0.6069	10	0.46703	T	0.11	-4.3321	19.9478	0.97189	0.0:0.0:1.0:0.0	.	146;194;204	A4GU14;Q9UKA8-2;Q9UKA8	.;.;RCAN3_HUMAN	K	204;194;146	ENSP00000363516:E204K;ENSP00000414447:E194K;ENSP00000445401:E146K	ENSP00000363516:E204K	E	+	1	0	RCAN3	24734238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.712000	0.92718	0.591000	0.81541	GAA	RCAN3	-	pfam_Calcipressin		0.502	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN3	HGNC	protein_coding	OTTHUMT00000009176.2	G			24861651	+1	no_errors	ENST00000374395	ensembl	human	known	70_37	missense	SNP	1.000	A
RCSD1	92241	genome.wustl.edu	37	1	167666535	167666535	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:167666535G>A	ENST00000367854.3	+	6	1005	c.674G>A	c.(673-675)gGa>gAa	p.G225E	RCSD1_ENST00000537350.1_Missense_Mutation_p.G195E	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	225					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)	p.G225E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GGAGCAGCGGGAGAGGGAGTG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											63.0	65.0	65.0					1																	167666535		2203	4300	6503	SO:0001583	missense	92241			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.674G>A	1.37:g.167666535G>A	ENSP00000356828:p.Gly225Glu		B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	pfam_RCSD	p.G225E	ENST00000367854.3	37	c.674	CCDS1263.1	1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319924	0.23994	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.48201	0.85;0.82	5.09	0.757	0.18427	.	0.666605	0.13118	N	0.412383	T	0.10165	0.0249	L	0.36672	1.1	0.24389	N	0.994754	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.002	T	0.26780	-1.0093	9	0.02654	T	1	-0.0316	4.6957	0.12802	0.3203:0.3052:0.3746:0.0	.	195;225	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	E	225;195	ENSP00000356828:G225E;ENSP00000439409:G195E	ENSP00000356828:G225E	G	+	2	0	RCSD1	165933159	0.001000	0.12720	0.000000	0.03702	0.087000	0.18053	0.215000	0.17562	0.120000	0.18254	0.585000	0.79938	GGA	RCSD1	-	NULL		0.592	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	G	NM_052862		167666535	+1	no_errors	ENST00000367854	ensembl	human	known	70_37	missense	SNP	0.000	A
NELFE	7936	genome.wustl.edu	37	6	31926158	31926158	+	Silent	SNP	G	G	C	rs148391435	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:31926158G>C	ENST00000375429.3	-	2	292	c.66C>G	c.(64-66)ctC>ctG	p.L22L	MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000375394.2_5'Flank|SKIV2L_ENST00000544581.1_5'Flank|NELFE_ENST00000444811.2_Silent_p.L22L|NELFE_ENST00000375425.5_Silent_p.L29L	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	22					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L22L(1)									CCTTTTTCTTGAGCTTGTTGA	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											231.0	200.0	211.0					6																	31926158		1511	2709	4220	SO:0001819	synonymous_variant	7936			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.66C>G	6.37:g.31926158G>C			A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L22	ENST00000375429.3	37	c.66	CCDS4730.1	6																																																																																			RDBP	-	NULL		0.522	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDBP	HGNC	protein_coding	OTTHUMT00000076047.4	G			31926158	-1	no_errors	ENST00000375429	ensembl	human	known	70_37	silent	SNP	1.000	C
NELFE	7936	genome.wustl.edu	37	6	31926167	31926167	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:31926167G>A	ENST00000375429.3	-	2	283	c.57C>T	c.(55-57)ttC>ttT	p.F19F	MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000375394.2_5'Flank|SKIV2L_ENST00000544581.1_5'Flank|NELFE_ENST00000444811.2_Silent_p.F19F|NELFE_ENST00000375425.5_Silent_p.F26F	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	19					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F19F(1)									TGAGCTTGTTGAATTTCTTCT	0.527																																																	1	Substitution - coding silent(1)	cervix(1)											230.0	201.0	211.0					6																	31926167		1511	2709	4220	SO:0001819	synonymous_variant	7936			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.57C>T	6.37:g.31926167G>A			A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F19	ENST00000375429.3	37	c.57	CCDS4730.1	6																																																																																			RDBP	-	NULL		0.527	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDBP	HGNC	protein_coding	OTTHUMT00000076047.4	G			31926167	-1	no_errors	ENST00000375429	ensembl	human	known	70_37	silent	SNP	1.000	A
REEP4	80346	genome.wustl.edu	37	8	21995920	21995920	+	3'UTR	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:21995920G>C	ENST00000306306.3	-	0	1322				REEP4_ENST00000523293.1_Missense_Mutation_p.I233M|REEP4_ENST00000334530.5_3'UTR	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4						mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		AGGCAGGCCAGATGTGCAGCC	0.642											OREG0018606	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	80346			BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"""Receptor accessory proteins"""	26176	protein-coding gene	gene with protein product		609349	"""chromosome 8 open reading frame 20"""	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.*80C>G	8.37:g.21995920G>C		752	D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.I233M	ENST00000306306.3	37	c.699	CCDS6024.1	8	.	.	.	.	.	.	.	.	.	.	G	3.173	-0.169668	0.06461	.	.	ENSG00000168476	ENST00000523293	D	0.89939	-2.59	3.34	-1.18	0.09617	.	.	.	.	.	T	0.81118	0.4756	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.69045	-0.5249	6	0.38643	T	0.18	.	2.172	0.03852	0.1193:0.3702:0.322:0.1886	.	.	.	.	M	233	ENSP00000428709:I233M	ENSP00000428709:I233M	I	-	3	3	REEP4	22051865	0.001000	0.12720	0.000000	0.03702	0.031000	0.12232	0.204000	0.17335	-0.268000	0.09312	0.655000	0.94253	ATC	REEP4	-	NULL		0.642	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP4	HGNC	protein_coding	OTTHUMT00000254337.2	G	NM_025232		21995920	-1	no_errors	ENST00000523293	ensembl	human	putative	70_37	missense	SNP	0.000	C
RERE	473	genome.wustl.edu	37	1	8419925	8419925	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:8419925C>T	ENST00000337907.3	-	20	4151	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	RERE_ENST00000400908.2_Missense_Mutation_p.E1173K|RERE_ENST00000476556.1_Missense_Mutation_p.E619K|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.E905K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1173					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E1173K(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGCTCAGCCTCGCGCTTGGCC	0.662																																																	1	Substitution - Missense(1)	cervix(1)											51.0	52.0	52.0					1																	8419925		2203	4300	6503	SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3517G>A	1.37:g.8419925C>T	ENSP00000338629:p.Glu1173Lys		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.E1173K	ENST00000337907.3	37	c.3517	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523074	0.44866	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.54279	0.58;2.98;2.98;0.58	5.42	4.51	0.55191	.	.	.	.	.	T	0.60431	0.2268	M	0.70275	2.135	0.58432	D	0.999998	D	0.60160	0.987	P	0.50405	0.64	T	0.64153	-0.6474	9	0.49607	T	0.09	-11.4217	13.206	0.59795	0.0:0.9234:0.0:0.0766	.	1173	Q9P2R6	RERE_HUMAN	K	1173;905;619;1173	ENSP00000338629:E1173K;ENSP00000366684:E905K;ENSP00000422246:E619K;ENSP00000383700:E1173K	ENSP00000338629:E1173K	E	-	1	0	RERE	8342512	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	7.752000	0.85141	1.277000	0.44412	-0.136000	0.14681	GAG	RERE	-	pfam_Atrophin-like		0.662	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	C			8419925	-1	no_errors	ENST00000337907	ensembl	human	known	70_37	missense	SNP	1.000	T
RERE	473	genome.wustl.edu	37	1	8426005	8426005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:8426005C>T	ENST00000337907.3	-	14	1948	c.1314G>A	c.(1312-1314)tgG>tgA	p.W438*	RERE_ENST00000400908.2_Nonsense_Mutation_p.W438*|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Nonsense_Mutation_p.W438*|RERE_ENST00000460659.1_5'UTR|RERE_ENST00000377464.1_Nonsense_Mutation_p.W170*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	438	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.W438*(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTCTTCTTCCAATAGTAAT	0.622																																																	1	Substitution - Nonsense(1)	cervix(1)											42.0	43.0	43.0					1																	8426005		2203	4300	6503	SO:0001587	stop_gained	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1314G>A	1.37:g.8426005C>T	ENSP00000338629:p.Trp438*		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Nonsense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.W438*	ENST00000337907.3	37	c.1314	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.884129	0.97062	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6306	19.4162	0.94700	0.0:1.0:0.0:0.0	.	.	.	.	X	438;170;438;438	.	ENSP00000338629:W438X	W	-	3	0	RERE	8348592	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	TGG	RERE	-	superfamily_Homeodomain-like,smart_SANT/Myb		0.622	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	C			8426005	-1	no_errors	ENST00000337907	ensembl	human	known	70_37	nonsense	SNP	1.000	T
REXO2	25996	genome.wustl.edu	37	11	114320605	114320605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:114320605C>T	ENST00000265881.5	+	7	765	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	REXO2_ENST00000544507.1_3'UTR|REXO2_ENST00000539275.1_3'UTR|REXO2_ENST00000538791.1_Nonsense_Mutation_p.Q118*|REXO2_ENST00000539754.1_Nonsense_Mutation_p.Q193*	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	208					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.Q208*(1)		cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		CAAAGAGCTTCAGTTTTACCG	0.338																																																	1	Substitution - Nonsense(1)	cervix(1)											126.0	129.0	128.0					11																	114320605		2201	4296	6497	SO:0001587	stop_gained	25996			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.622C>T	11.37:g.114320605C>T	ENSP00000265881:p.Gln208*		B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Nonsense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.Q208*	ENST00000265881.5	37	c.622	CCDS8371.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.234870|4.234870	0.79800|0.79800	.|.	.|.	ENSG00000076043|ENSG00000076043	ENST00000265881;ENST00000539754;ENST00000539788;ENST00000538791|ENST00000539119;ENST00000538403	.|.	.|.	.|.	5.9|5.9	4.98|4.98	0.66077|0.66077	.|.	0.102163|.	0.64402|.	D|.	0.000001|.	.|T	.|0.72755	.|0.3500	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72465	.|-0.4285	.|4	0.02654|.	T|.	1|.	-3.6802|-3.6802	16.3022|16.3022	0.82825|0.82825	0.0:0.8678:0.1322:0.0|0.0:0.8678:0.1322:0.0	.|.	.|.	.|.	.|.	X|L	208;193;82;118|162;124	.|.	ENSP00000265881:Q208X|.	Q|S	+|+	1|2	0|0	REXO2|REXO2	113825815|113825815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.773000|5.773000	0.68898|0.68898	1.485000|1.485000	0.48380|0.48380	0.650000|0.650000	0.86243|0.86243	CAG|TCA	REXO2	-	superfamily_RNaseH-like_dom,smart_Exonuclease		0.338	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO2	HGNC	protein_coding	OTTHUMT00000399087.1	C	NM_015523		114320605	+1	no_errors	ENST00000265881	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RFC1	5981	genome.wustl.edu	37	4	39329178	39329178	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:39329178G>C	ENST00000381897.1	-	5	663	c.530C>G	c.(529-531)tCt>tGt	p.S177C	RFC1_ENST00000349703.2_Missense_Mutation_p.S177C|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	177					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.S177C(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTCTTATTAGATCTTTGGAC	0.343																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												1	Substitution - Missense(1)	cervix(1)											124.0	117.0	119.0					4																	39329178		2203	4300	6503	SO:0001583	missense	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.530C>G	4.37:g.39329178G>C	ENSP00000371321:p.Ser177Cys		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.S177C	ENST00000381897.1	37	c.530	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109987	0.77210	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.33654	1.4;1.4	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	M	0.74258	2.255	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62497	-0.6842	10	0.54805	T	0.06	-10.4838	17.952	0.89056	0.0:0.0:1.0:0.0	.	177;177	P35251;P35251-2	RFC1_HUMAN;.	C	177	ENSP00000371321:S177C;ENSP00000261424:S177C	ENSP00000261424:S177C	S	-	2	0	RFC1	39005573	1.000000	0.71417	0.982000	0.44146	0.777000	0.43975	7.358000	0.79466	2.736000	0.93811	0.643000	0.83706	TCT	RFC1	-	pirsf_DNA_replication_fac_C_lsu		0.343	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	G	NM_002913		39329178	-1	no_errors	ENST00000381897	ensembl	human	known	70_37	missense	SNP	1.000	C
RFPL3	10738	genome.wustl.edu	37	22	32754152	32754152	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:32754152G>C	ENST00000249007.4	+	1	299	c.94G>C	c.(94-96)Gca>Cca	p.A32P	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Missense_Mutation_p.A3P|RFPL3_ENST00000397468.1_Missense_Mutation_p.A3P	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	32							zinc ion binding (GO:0008270)	p.A32P(1)|p.A3P(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GGACATGGCTGCACTCTTCCA	0.483																																																	2	Substitution - Missense(2)	cervix(2)											80.0	81.0	80.0					22																	32754152		2203	4300	6503	SO:0001583	missense	10738			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.94G>C	22.37:g.32754152G>C	ENSP00000249007:p.Ala32Pro		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.A32P	ENST00000249007.4	37	c.94	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114841	0.37339	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.55052	0.55;0.54;0.55	0.851	-1.7	0.08159	.	.	.	.	.	T	0.44393	0.1291	L	0.41027	1.25	0.09310	N	1	P	0.49358	0.923	P	0.48840	0.592	T	0.33727	-0.9857	9	0.49607	T	0.09	.	4.0297	0.09703	0.5178:0.0:0.4822:0.0	.	32	O75679	RFPL3_HUMAN	P	3;32;3	ENSP00000380609:A3P;ENSP00000249007:A32P;ENSP00000371520:A3P	ENSP00000249007:A32P	A	+	1	0	RFPL3	31084152	0.020000	0.18652	0.003000	0.11579	0.554000	0.35429	0.803000	0.27083	-0.651000	0.05415	0.194000	0.17425	GCA	RFPL3	-	NULL		0.483	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	HGNC	protein_coding	OTTHUMT00000075172.3	G	NM_006604		32754152	+1	no_errors	ENST00000249007	ensembl	human	known	70_37	missense	SNP	0.031	C
RFX3	5991	genome.wustl.edu	37	9	3277378	3277378	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:3277378G>A	ENST00000382004.3	-	9	1246	c.935C>T	c.(934-936)aCt>aTt	p.T312I	RFX3_ENST00000358730.2_Missense_Mutation_p.T312I|RFX3_ENST00000302303.1_Missense_Mutation_p.T312I	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	312					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T312I(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GGCAATTACAGTTTGCTCAAC	0.393																																																	2	Substitution - Missense(2)	cervix(2)											188.0	163.0	172.0					9																	3277378		2203	4300	6503	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.935C>T	9.37:g.3277378G>A	ENSP00000371434:p.Thr312Ile		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.T312I	ENST00000382004.3	37	c.935	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388888	0.61956	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.59224	0.29;0.28;0.28	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.43152	1.355	0.80722	D	1	B;P;B	0.41643	0.056;0.758;0.129	B;B;B	0.37601	0.113;0.254;0.075	T	0.54463	-0.8290	10	0.42905	T	0.14	-13.2211	19.5327	0.95235	0.0:0.0:1.0:0.0	.	312;312;312	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	I	312	ENSP00000371434:T312I;ENSP00000351574:T312I;ENSP00000303847:T312I	ENSP00000303847:T312I	T	-	2	0	RFX3	3267378	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.504000	0.81646	2.621000	0.88768	0.460000	0.39030	ACT	RFX3	-	NULL		0.393	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	G	NM_002919		3277378	-1	no_errors	ENST00000382004	ensembl	human	known	70_37	missense	SNP	1.000	A
RFX3	5991	genome.wustl.edu	37	9	3277390	3277390	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:3277390G>C	ENST00000382004.3	-	9	1234	c.923C>G	c.(922-924)tCt>tGt	p.S308C	RFX3_ENST00000358730.2_Missense_Mutation_p.S308C|RFX3_ENST00000302303.1_Missense_Mutation_p.S308C	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	308					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S308C(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTGCTCAACAGATGTGCCTGT	0.373																																																	2	Substitution - Missense(2)	cervix(2)											192.0	165.0	174.0					9																	3277390		2203	4300	6503	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.923C>G	9.37:g.3277390G>C	ENSP00000371434:p.Ser308Cys		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.S308C	ENST00000382004.3	37	c.923	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459482	0.63401	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.60040	0.23;0.22;0.22	5.56	5.56	0.83823	.	0.053489	0.85682	D	0.000000	T	0.70002	0.3174	L	0.42245	1.32	0.58432	D	0.999995	D;B;P	0.76494	0.999;0.018;0.847	D;B;P	0.68765	0.96;0.046;0.57	T	0.67677	-0.5609	10	0.41790	T	0.15	-11.8623	19.5327	0.95235	0.0:0.0:1.0:0.0	.	308;308;308	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	C	308	ENSP00000371434:S308C;ENSP00000351574:S308C;ENSP00000303847:S308C	ENSP00000303847:S308C	S	-	2	0	RFX3	3267390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.054000	0.93866	2.621000	0.88768	0.460000	0.39030	TCT	RFX3	-	NULL		0.373	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	G	NM_002919		3277390	-1	no_errors	ENST00000382004	ensembl	human	known	70_37	missense	SNP	1.000	C
RGAG1	57529	genome.wustl.edu	37	X	109695460	109695460	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:109695460C>G	ENST00000465301.2	+	3	1861	c.1615C>G	c.(1615-1617)Ctg>Gtg	p.L539V	RGAG1_ENST00000540313.1_Missense_Mutation_p.L539V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	539								p.L539V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATGTCCATGCTGCAAATGAG	0.498																																																	1	Substitution - Missense(1)	cervix(1)											173.0	157.0	163.0					X																	109695460		2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1615C>G	X.37:g.109695460C>G	ENSP00000419786:p.Leu539Val		Q9P2M8	Missense_Mutation	SNP	NULL	p.L539V	ENST00000465301.2	37	c.1615	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	7.764	0.705913	0.15172	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.42131	0.98;0.98	4.43	3.56	0.40772	.	0.669572	0.11693	N	0.538716	T	0.36771	0.0979	L	0.54323	1.7	0.09310	N	1	P	0.45827	0.867	B	0.39027	0.288	T	0.15235	-1.0444	9	.	.	.	0.001	9.4	0.38426	0.0:0.8917:0.0:0.1083	.	539	Q8NET4	RGAG1_HUMAN	V	539	ENSP00000419786:L539V;ENSP00000441452:L539V	.	L	+	1	2	RGAG1	109582116	0.002000	0.14202	0.018000	0.16275	0.742000	0.42306	0.392000	0.20801	1.201000	0.43203	0.499000	0.49734	CTG	RGAG1	-	NULL		0.498	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	C	NM_020769		109695460	+1	no_errors	ENST00000465301	ensembl	human	known	70_37	missense	SNP	0.093	G
RGL2	5863	genome.wustl.edu	37	6	33264531	33264531	+	Missense_Mutation	SNP	G	G	C	rs367652018		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:33264531G>C	ENST00000497454.1	-	4	758	c.263C>G	c.(262-264)tCc>tGc	p.S88C	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.S6C	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	88	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.S88C(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCGTCGGGAGGAACGTGGGGG	0.577																																																	1	Substitution - Missense(1)	cervix(1)						G	CYS/SER	0,4406		0,0,2203	51.0	56.0	54.0		263	1.1	0.8	6		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	RGL2	NM_004761.4	112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	88/778	33264531	1,13005	2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.263C>G	6.37:g.33264531G>C	ENSP00000420211:p.Ser88Cys		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S88C	ENST00000497454.1	37	c.263	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	G	9.081	0.999316	0.19121	0.0	1.16E-4	ENSG00000237441	ENST00000497454;ENST00000444031;ENST00000425946	T;T;T	0.32272	1.46;1.46;1.46	4.22	1.15	0.20763	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.346678	0.27388	N	0.019587	T	0.07458	0.0188	N	0.22421	0.69	0.29612	N	0.846889	B;B	0.15930	0.015;0.001	B;B	0.11329	0.006;0.002	T	0.24440	-1.0160	10	0.87932	D	0	.	7.5428	0.27748	0.0:0.3336:0.4935:0.1729	.	6;88	B4DG72;O15211	.;RGL2_HUMAN	C	88;6;88	ENSP00000420211:S88C;ENSP00000403070:S6C;ENSP00000392918:S88C	ENSP00000392918:S88C	S	-	2	0	RGL2	33372509	1.000000	0.71417	0.791000	0.31998	0.846000	0.48090	1.582000	0.36568	0.393000	0.25203	0.643000	0.83706	TCC	RGL2	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.577	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	G			33264531	-1	no_errors	ENST00000497454	ensembl	human	known	70_37	missense	SNP	0.994	C
RGPD8	727851	genome.wustl.edu	37	2	113147114	113147114	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:113147114G>A	ENST00000302558.3	-	20	3599	c.3408C>T	c.(3406-3408)ttC>ttT	p.F1136F	RGPD8_ENST00000409750.1_Silent_p.F996F	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1136	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CACCATCAGAGAAATCACTGG	0.448																																																	0													15.0	13.0	13.0					2																	113147114		691	1577	2268	SO:0001819	synonymous_variant	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3408C>T	2.37:g.113147114G>A			Q5CZA8	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.F1136	ENST00000302558.3	37	c.3408	CCDS46394.1	2																																																																																			RGPD8	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.448	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	HGNC	protein_coding	OTTHUMT00000375951.1	G	XM_001722279		113147114	-1	no_errors	ENST00000302558	ensembl	human	known	70_37	silent	SNP	1.000	A
RGS17	26575	genome.wustl.edu	37	6	153332811	153332811	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:153332811C>G	ENST00000367225.2	-	4	555	c.531G>C	c.(529-531)caG>caC	p.Q177H	RGS17_ENST00000206262.1_Missense_Mutation_p.Q177H			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	177	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q177Q(1)|p.Q177H(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AAGTATATATCTGAAGTTGGG	0.353																																					Esophageal Squamous(78;500 1236 6775 24364 49058)												2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|large_intestine(1)											60.0	60.0	60.0					6																	153332811		2203	4300	6503	SO:0001583	missense	26575			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.531G>C	6.37:g.153332811C>G	ENSP00000356194:p.Gln177His		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q177H	ENST00000367225.2	37	c.531	CCDS5244.1	6	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498768	0.64298	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.01871	4.59;4.59	5.19	4.32	0.51571	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.01940	0.0061	L	0.38953	1.18	0.80722	D	1	P	0.49253	0.921	P	0.50617	0.646	T	0.66240	-0.5973	10	0.36615	T	0.2	-16.4201	14.049	0.64725	0.0:0.9265:0.0:0.0735	.	177	Q9UGC6	RGS17_HUMAN	H	177	ENSP00000356194:Q177H;ENSP00000206262:Q177H	ENSP00000206262:Q177H	Q	-	3	2	RGS17	153374504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.038000	0.57318	1.329000	0.45376	0.551000	0.68910	CAG	RGS17	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.353	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS17	HGNC	protein_coding	OTTHUMT00000042773.2	C			153332811	-1	no_errors	ENST00000206262	ensembl	human	known	70_37	missense	SNP	1.000	G
RGS22	26166	genome.wustl.edu	37	8	101078512	101078512	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:101078512G>C	ENST00000360863.6	-	7	801	c.607C>G	c.(607-609)Caa>Gaa	p.Q203E	RGS22_ENST00000523437.1_Missense_Mutation_p.Q191E|RGS22_ENST00000523287.1_Missense_Mutation_p.Q22E	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	203					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q203E(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCTTTTGTTTGAGTATAGGAA	0.343																																																	2	Substitution - Missense(2)	cervix(2)											152.0	141.0	144.0					8																	101078512		1866	4113	5979	SO:0001583	missense	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.607C>G	8.37:g.101078512G>C	ENSP00000354109:p.Gln203Glu		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.Q203E	ENST00000360863.6	37	c.607	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436453	0.43224	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000520117	T;T;T	0.34472	1.37;1.36;1.36	5.17	4.29	0.51040	.	0.492419	0.19293	N	0.117858	T	0.44644	0.1303	M	0.68952	2.095	0.29188	N	0.87604	B;B;P	0.40619	0.022;0.022;0.724	B;B;B	0.43155	0.011;0.011;0.41	T	0.49615	-0.8921	10	0.87932	D	0	.	15.6533	0.77115	0.0:0.1378:0.8622:0.0	.	191;203;22	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	E	203;191;22;191;122	ENSP00000354109:Q203E;ENSP00000429382:Q22E;ENSP00000428212:Q191E	ENSP00000354109:Q203E	Q	-	1	0	RGS22	101147688	1.000000	0.71417	0.955000	0.39395	0.898000	0.52572	3.900000	0.56295	1.148000	0.42385	0.591000	0.81541	CAA	RGS22	-	NULL		0.343	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	G	NM_015668		101078512	-1	no_errors	ENST00000360863	ensembl	human	known	70_37	missense	SNP	1.000	C
RGS3	5998	genome.wustl.edu	37	9	116346022	116346022	+	Missense_Mutation	SNP	C	C	T	rs371735508		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:116346022C>T	ENST00000374140.2	+	21	2539	c.2330C>T	c.(2329-2331)tCa>tTa	p.S777L	RGS3_ENST00000374134.3_Missense_Mutation_p.S98L|RGS3_ENST00000350696.5_Missense_Mutation_p.S777L|RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.S496L|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.S98L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	777	Pro-rich.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|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)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.S777L(1)|p.S673L(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CAAGACCTCTCACCCTGCCAG	0.622																																																	2	Substitution - Missense(2)	cervix(2)						C	,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	116.0	119.0	118.0		,2330,1487,293	1.1	0.0	9		118	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	RGS3	NM_134427.1,NM_144488.4,NM_130795.2,NM_021106.3	,145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign,benign	,777/1199,496/918,98/520	116346022	1,13005	2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2330C>T	9.37:g.116346022C>T	ENSP00000363255:p.Ser777Leu		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.S777L	ENST00000374140.2	37	c.2330	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048336	0.36181	0.0	1.16E-4	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000474719;ENST00000462143;ENST00000374134	T;T;T;T;T	0.57107	0.92;0.92;0.42;0.42;0.42	4.97	1.06	0.20224	.	0.989764	0.08211	N	0.980704	T	0.35158	0.0922	N	0.19112	0.55	0.09310	N	0.999995	B;B;B;B;B;B	0.09022	0.001;0.001;0.002;0.0;0.0;0.001	B;B;B;B;B;B	0.08055	0.003;0.002;0.003;0.001;0.001;0.001	T	0.30534	-0.9975	10	0.72032	D	0.01	.	4.9821	0.14170	0.1482:0.6053:0.0:0.2465	.	116;673;98;496;667;777	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	L	777;777;496;98;98;98	ENSP00000363255:S777L;ENSP00000259406:S777L;ENSP00000340284:S496L;ENSP00000420356:S98L;ENSP00000363249:S98L	ENSP00000340284:S496L	S	+	2	0	RGS3	115385843	0.000000	0.05858	0.000000	0.03702	0.884000	0.51177	0.453000	0.21811	0.094000	0.17404	0.655000	0.94253	TCA	RGS3	-	NULL		0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	C	NM_017790		116346022	+1	no_errors	ENST00000350696	ensembl	human	known	70_37	missense	SNP	0.003	T
RHOA	387	genome.wustl.edu	37	3	49400019	49400019	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49400019G>C	ENST00000418115.1	-	4	702	c.318C>G	c.(316-318)ttC>ttG	p.F106L	RHOA_ENST00000422781.1_Missense_Mutation_p.F106L|RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000454011.2_Missense_Mutation_p.S66C	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	106					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.F106L(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGTTGGGACAGAAATGCTTGA	0.443																																																	1	Substitution - Missense(1)	cervix(1)											117.0	107.0	110.0					3																	49400019		2203	4300	6503	SO:0001583	missense	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.318C>G	3.37:g.49400019G>C	ENSP00000400175:p.Phe106Leu		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F106L	ENST00000418115.1	37	c.318	CCDS2795.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.317561|5.317561	0.95682|0.95682	.|.	.|.	ENSG00000067560|ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425|ENST00000454011	T;T;T|T	0.75821|0.24538	-0.97;-0.97;-0.97|1.85	6.07|6.07	6.07|6.07	0.98685|0.98685	Small GTP-binding protein domain (1);|.	0.051069|.	0.85682|.	D|.	0.000000|.	T|T	0.39886|0.39886	0.1095|0.1095	L|L	0.41027|0.41027	1.25|1.25	0.80722|0.80722	D|D	1|1	B|.	0.28055|.	0.199|.	P|.	0.46659|.	0.523|.	T|T	0.03717|0.03717	-1.1010|-1.1010	10|7	0.72032|0.87932	D|D	0.01|0	.|.	19.222|19.222	0.93801|0.93801	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	106|.	P61586|.	RHOA_HUMAN|.	L|C	106|66	ENSP00000400175:F106L;ENSP00000413587:F106L;ENSP00000408402:F106L|ENSP00000394483:S66C	ENSP00000400175:F106L|ENSP00000394483:S66C	F|S	-|-	3|2	2|0	RHOA|RHOA	49375023|49375023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.686000|5.686000	0.68211|0.68211	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	TTC|TCT	RHOA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.443	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	G	NM_001664		49400019	-1	no_errors	ENST00000418115	ensembl	human	known	70_37	missense	SNP	1.000	C
RICTOR	253260	genome.wustl.edu	37	5	38957801	38957801	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:38957801G>C	ENST00000357387.3	-	25	2482	c.2452C>G	c.(2452-2454)Ctg>Gtg	p.L818V	RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Missense_Mutation_p.L818V	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.L818V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTTTCATTCAGATAGGAAAAT	0.303																																																	1	Substitution - Missense(1)	cervix(1)											93.0	99.0	97.0					5																	38957801		2202	4297	6499	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2452C>G	5.37:g.38957801G>C	ENSP00000349959:p.Leu818Val			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L818V	ENST00000357387.3	37	c.2452	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687728	0.68157	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.53640	0.61;0.61	5.43	2.6	0.31112	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.82056	2.57	0.52501	D	0.999951	D;D	0.76494	0.999;0.996	D;D	0.77557	0.99;0.986	T	0.66304	-0.5957	10	0.87932	D	0	-5.8609	8.265	0.31808	0.3078:0.0:0.6922:0.0	.	818;818	Q6R327;Q6R327-3	RICTR_HUMAN;.	V	818	ENSP00000349959:L818V;ENSP00000296782:L818V	ENSP00000296782:L818V	L	-	1	2	RICTOR	38993558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.297000	0.51810	0.738000	0.32606	0.591000	0.81541	CTG	RICTOR	-	superfamily_ARM-type_fold		0.303	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	G	NM_152756		38957801	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	missense	SNP	1.000	C
RIMKLB	57494	genome.wustl.edu	37	12	8906507	8906507	+	Missense_Mutation	SNP	G	G	C	rs369058701		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:8906507G>C	ENST00000538135.1	+	5	1340	c.515G>C	c.(514-516)cGa>cCa	p.R172P	RIMKLB_ENST00000535829.1_Missense_Mutation_p.R172P|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000357529.3_Missense_Mutation_p.R172P			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	172	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTCTTGGCTCGAGATAAGCAC	0.388																																																	0													94.0	82.0	86.0					12																	8906507		1884	4110	5994	SO:0001583	missense	57494			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.515G>C	12.37:g.8906507G>C	ENSP00000440943:p.Arg172Pro		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.R172P	ENST00000538135.1	37	c.515	CCDS41748.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358970	0.82353	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	4.83	4.83	0.62350	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.000000	0.64402	U	0.000004	T	0.63827	0.2544	L	0.28274	0.84	0.80722	D	1	D;D	0.62365	0.991;0.988	P;D	0.63488	0.861;0.915	T	0.68903	-0.5286	9	0.87932	D	0	.	16.8371	0.85959	0.0:0.0:1.0:0.0	.	172;172	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	P	172	.	ENSP00000350136:R172P	R	+	2	0	RIMKLB	8797774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.835000	0.92100	2.379000	0.81126	0.591000	0.81541	CGA	RIMKLB	-	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX		0.388	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLB	HGNC	protein_coding	OTTHUMT00000398874.1	G	NM_020734		8906507	+1	no_errors	ENST00000357529	ensembl	human	known	70_37	missense	SNP	1.000	C
RIMS4	140730	genome.wustl.edu	37	20	43438835	43438835	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:43438835G>A	ENST00000372851.3	-	1	144	c.78C>T	c.(76-78)tcC>tcT	p.S26S	RIMS4_ENST00000541604.2_Silent_p.S26S	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	26					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.S26S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CGTCGTCGAAGGAGTTCATGC	0.741																																																	1	Substitution - coding silent(1)	cervix(1)											12.0	12.0	12.0					20																	43438835		2193	4283	6476	SO:0001819	synonymous_variant	140730				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.78C>T	20.37:g.43438835G>A			A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S26	ENST00000372851.3	37	c.78	CCDS13338.1	20																																																																																			RIMS4	-	NULL		0.741	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RIMS4	HGNC	protein_coding	OTTHUMT00000101027.2	G	NM_182970		43438835	-1	no_errors	ENST00000541604	ensembl	human	known	70_37	silent	SNP	1.000	A
RIOK1	83732	genome.wustl.edu	37	6	7413155	7413155	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:7413155G>C	ENST00000379834.2	+	15	1930	c.1423G>C	c.(1423-1425)Gat>Cat	p.D475H		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	475	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D468H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ATTGAAGAAAGATTTGTCAGG	0.274																																																	1	Substitution - Missense(1)	cervix(1)											103.0	104.0	104.0					6																	7413155		2203	4293	6496	SO:0001583	missense	83732			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1423G>C	6.37:g.7413155G>C	ENSP00000369162:p.Asp475His		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	p.D475H	ENST00000379834.2	37	c.1423	CCDS4500.1	6	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094077	0.76870	.	.	ENSG00000124784	ENST00000379834	T	0.07327	3.2	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	M	0.83603	2.65	0.80722	D	1	P	0.50443	0.935	P	0.47075	0.536	T	0.01791	-1.1273	10	0.72032	D	0.01	-31.0826	13.9281	0.63975	0.0728:0.0:0.9272:0.0	.	475	Q9BRS2	RIOK1_HUMAN	H	475	ENSP00000369162:D475H	ENSP00000369162:D475H	D	+	1	0	RIOK1	7358154	1.000000	0.71417	0.971000	0.41717	0.976000	0.68499	8.269000	0.89878	1.438000	0.47492	0.563000	0.77884	GAT	RIOK1	-	pirsf_Ser/Thr_kinase_Rio1		0.274	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK1	HGNC	protein_coding	OTTHUMT00000039780.2	G	NM_031480		7413155	+1	no_errors	ENST00000379834	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF111	54778	genome.wustl.edu	37	15	59323793	59323793	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:59323793G>A	ENST00000557998.1	+	2	1059	c.772G>A	c.(772-774)Gag>Aag	p.E258K	RNF111_ENST00000561186.1_Missense_Mutation_p.E258K|RNF111_ENST00000434298.1_Missense_Mutation_p.E258K|RNF111_ENST00000348370.4_Missense_Mutation_p.E258K|RNF111_ENST00000559209.1_Missense_Mutation_p.E258K	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	258	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E258K(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TAGTTCCAGTGAGAATGACCT	0.408																																					NSCLC(72;983 1365 10746 34387 47081)												2	Substitution - Missense(2)	cervix(2)											135.0	132.0	133.0					15																	59323793		2192	4291	6483	SO:0001583	missense	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.772G>A	15.37:g.59323793G>A	ENSP00000452732:p.Glu258Lys		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E258K	ENST00000557998.1	37	c.772	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025718	0.93518	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.19532	2.14;2.14	5.28	5.28	0.74379	.	0.054127	0.64402	D	0.000001	T	0.41558	0.1164	L	0.54323	1.7	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.997	P;P;P	0.61800	0.894;0.787;0.894	T	0.20075	-1.0286	10	0.72032	D	0.01	-7.8664	19.2842	0.94065	0.0:0.0:1.0:0.0	.	258;258;258	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	K	258	ENSP00000288199:E258K;ENSP00000393641:E258K	ENSP00000288199:E258K	E	+	1	0	RNF111	57111085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.089000	0.76909	2.629000	0.89072	0.650000	0.86243	GAG	RNF111	-	NULL		0.408	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	G	NM_017610		59323793	+1	no_errors	ENST00000434298	ensembl	human	known	70_37	missense	SNP	1.000	A
RNF123	63891	genome.wustl.edu	37	3	49751254	49751254	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49751254G>C	ENST00000327697.6	+	29	2977	c.2833G>C	c.(2833-2835)Gag>Cag	p.E945Q	RNF123_ENST00000433785.1_Missense_Mutation_p.E57Q	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	945					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E945Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AATCCCCGAGGAGCAGTGAGT	0.662																																																	1	Substitution - Missense(1)	cervix(1)											34.0	36.0	35.0					3																	49751254		2203	4300	6503	SO:0001583	missense	63891			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2833G>C	3.37:g.49751254G>C	ENSP00000328287:p.Glu945Gln		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.E945Q	ENST00000327697.6	37	c.2833	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939915	0.73557	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.74002	-0.8	5.73	5.73	0.89815	.	0.150553	0.56097	D	0.000021	T	0.76828	0.4042	M	0.61703	1.905	0.58432	D	0.999995	B	0.27791	0.189	B	0.34991	0.193	T	0.74312	-0.3706	10	0.51188	T	0.08	-17.0577	18.8865	0.92379	0.0:0.0:1.0:0.0	.	945	Q5XPI4	RN123_HUMAN	Q	945;945;57	ENSP00000328287:E945Q	ENSP00000328287:E945Q	E	+	1	0	RNF123	49726258	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.175000	0.94831	2.713000	0.92767	0.655000	0.94253	GAG	RNF123	-	NULL		0.662	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	G	NM_022064		49751254	+1	no_errors	ENST00000327697	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF14	9604	genome.wustl.edu	37	5	141359694	141359694	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:141359694G>C	ENST00000394520.2	+	6	1150	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	RNF14_ENST00000394519.1_Missense_Mutation_p.E281Q|RNF14_ENST00000347642.3_Missense_Mutation_p.E281Q|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394515.3_Missense_Mutation_p.E105Q|RNF14_ENST00000356143.1_Missense_Mutation_p.E281Q|RNF14_ENST00000394514.2_Missense_Mutation_p.E155Q|AC005740.5_ENST00000520882.1_RNA	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	281					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E281Q(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CCAGGTCAAAGAGTTAGTGGA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											122.0	109.0	114.0					5																	141359694		2203	4300	6503	SO:0001583	missense	9604			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.841G>C	5.37:g.141359694G>C	ENSP00000378028:p.Glu281Gln		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.E281Q	ENST00000394520.2	37	c.841	CCDS4270.1	5	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264642	0.40095	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000394514;ENST00000394515;ENST00000394519	D;D;D;D;T;D	0.87966	-2.32;-2.32;-2.32;-2.32;2.03;-2.32	4.99	4.99	0.66335	.	0.178212	0.50627	D	0.000104	T	0.82001	0.4942	L	0.35854	1.095	0.42926	D	0.994305	B;B	0.32968	0.392;0.073	B;B	0.38296	0.27;0.046	T	0.77487	-0.2569	10	0.13853	T	0.58	.	13.6045	0.62039	0.0:0.0:0.8449:0.1551	.	105;281	B7Z229;Q9UBS8	.;RNF14_HUMAN	Q	281;281;281;155;105;281	ENSP00000348462:E281Q;ENSP00000378028:E281Q;ENSP00000324956:E281Q;ENSP00000378022:E155Q;ENSP00000378023:E105Q;ENSP00000378027:E281Q	ENSP00000324956:E281Q	E	+	1	0	RNF14	141339878	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.596000	0.67570	2.480000	0.83734	0.650000	0.86243	GAG	RNF14	-	NULL		0.507	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	HGNC	protein_coding	OTTHUMT00000251860.2	G	NM_004290		141359694	+1	no_errors	ENST00000347642	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF157	114804	genome.wustl.edu	37	17	74158697	74158697	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:74158697C>T	ENST00000269391.6	-	9	860	c.728G>A	c.(727-729)gGg>gAg	p.G243E	RNF157_ENST00000319945.6_Missense_Mutation_p.G243E	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	243							zinc ion binding (GO:0008270)	p.G837E(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GTAGCTGACCCCGTCTACCTG	0.428																																					GBM(186;507 2120 27388 27773 52994)												1	Substitution - Missense(1)	cervix(1)											99.0	86.0	90.0					17																	74158697		2203	4300	6503	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.728G>A	17.37:g.74158697C>T	ENSP00000269391:p.Gly243Glu		Q8NB72|Q96N56	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.G243E	ENST00000269391.6	37	c.728	CCDS32740.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.134149	0.94517	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.29397	1.57;1.64	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73380	0.979;0.98	T	0.62685	-0.6802	10	0.66056	D	0.02	-14.0309	19.3121	0.94192	0.0:1.0:0.0:0.0	.	243;243	Q96PX1-2;Q96PX1	.;RN157_HUMAN	E	243;243;205	ENSP00000269391:G243E;ENSP00000321837:G243E	ENSP00000269391:G243E	G	-	2	0	RNF157	71670292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.544000	0.85801	0.655000	0.94253	GGG	RNF157	-	NULL		0.428	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF157	HGNC	protein_coding	OTTHUMT00000255874.2	C	XM_290732		74158697	-1	no_errors	ENST00000269391	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF17	56163	genome.wustl.edu	37	13	25378559	25378559	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:25378559C>G	ENST00000255324.5	+	15	2135	c.2083C>G	c.(2083-2085)Ctt>Gtt	p.L695V	RNF17_ENST00000255325.6_Intron|RNF17_ENST00000381921.1_Missense_Mutation_p.L695V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	695					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L695V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGATTTCTATCTTCAGTTGGT	0.274																																																	1	Substitution - Missense(1)	cervix(1)											58.0	57.0	58.0					13																	25378559		2199	4299	6498	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2083C>G	13.37:g.25378559C>G	ENSP00000255324:p.Leu695Val		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.L695V	ENST00000255324.5	37	c.2083	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838130	0.32513	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.06768	3.26;3.26;3.26	5.25	4.39	0.52855	Maternal tudor protein (1);	0.389637	0.23704	N	0.045395	T	0.08980	0.0222	N	0.13352	0.335	0.80722	D	1	D;P	0.57899	0.981;0.815	P;P	0.58077	0.832;0.532	T	0.24261	-1.0165	10	0.06891	T	0.86	.	10.8807	0.46937	0.3409:0.6591:0.0:0.0	.	695;695	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	V	695;695;554;19	ENSP00000255324:L695V;ENSP00000371346:L695V;ENSP00000388892:L19V	ENSP00000255324:L695V	L	+	1	0	RNF17	24276559	0.999000	0.42202	1.000000	0.80357	0.946000	0.59487	1.566000	0.36396	1.169000	0.42739	0.591000	0.81541	CTT	RNF17	-	pfam_Tudor		0.274	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	C	NM_031994		25378559	+1	no_errors	ENST00000255324	ensembl	human	known	70_37	missense	SNP	1.000	G
RNF17	56163	genome.wustl.edu	37	13	25417973	25417973	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:25417973C>G	ENST00000255324.5	+	20	2747	c.2695C>G	c.(2695-2697)Cct>Gct	p.P899A	RNF17_ENST00000339524.3_5'Flank|RNF17_ENST00000381921.1_Missense_Mutation_p.P899A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	899					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P899A(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAACTTAAATCCTGTGTCTGC	0.318																																																	1	Substitution - Missense(1)	cervix(1)											62.0	62.0	62.0					13																	25417973		2203	4294	6497	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2695C>G	13.37:g.25417973C>G	ENSP00000255324:p.Pro899Ala		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.P899A	ENST00000255324.5	37	c.2695	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.027157	0.02045	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.12147	3.47;3.48;2.71	4.54	0.7	0.18099	.	0.691991	0.13213	N	0.404995	T	0.07999	0.0200	L	0.29908	0.895	0.09310	N	1	B;B;B	0.31077	0.307;0.0;0.209	B;B;B	0.28991	0.097;0.003;0.053	T	0.33445	-0.9868	10	0.29301	T	0.29	-1.9116	4.0836	0.09937	0.0:0.376:0.3704:0.2536	.	899;899;899	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	A	899;899;758;223	ENSP00000255324:P899A;ENSP00000371346:P899A;ENSP00000388892:P223A	ENSP00000255324:P899A	P	+	1	0	RNF17	24315973	0.000000	0.05858	0.017000	0.16124	0.038000	0.13279	-0.258000	0.08733	0.222000	0.20900	-0.282000	0.10007	CCT	RNF17	-	NULL		0.318	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	C	NM_031994		25417973	+1	no_errors	ENST00000255324	ensembl	human	known	70_37	missense	SNP	0.005	G
RNF213	57674	genome.wustl.edu	37	17	78328272	78328272	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:78328272C>T	ENST00000582970.1	+	36	10901	c.10758C>T	c.(10756-10758)ctC>ctT	p.L3586L	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L3635L|RNF213_ENST00000336301.6_Silent_p.L1659L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3586					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L3635L(1)|p.L1659L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGATGCGCCTCAGTGTCTTTT	0.552																																																	2	Substitution - coding silent(2)	cervix(2)											93.0	87.0	89.0					17																	78328272		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10758C>T	17.37:g.78328272C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L3586	ENST00000582970.1	37	c.10758	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78328272	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.221	T
RBAK-RBAKDN	100533952	genome.wustl.edu	37	7	5033260	5033261	+	Intron	DNP	GG	GG	AA			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:5033260_5033261GG>AA	ENST00000407184.1	+	2	222				RNF216P1_ENST00000471244.1_RNA					RBAK-RBAKDN readthrough																		GGTGCATGCAGGAGCGGGGGCA	0.584																																																	0																																										SO:0001627	intron_variant	441191				CCDS56463.1	7p22.1	2013-05-20				ENSG00000272968			42971	other	readthrough							Standard	NM_001204513		Approved				OTTHUMG00000186010	Exception_encountered	7.37:g.5033260_5033261delinsAA				RNA	SNP	-	NULL	ENST00000407184.1	37	NULL		7																																																																																			RNF216P1	-	-		0.584	RBAK-RBAKDN-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	RNF216P1	HGNC	protein_coding	OTTHUMT00000472007.1	G			5033260|5033261	+1	no_errors	ENST00000471244	ensembl	human	known	70_37	rna	SNP	0.974|0.985	A
RNF26	79102	genome.wustl.edu	37	11	119207071	119207071	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:119207071C>T	ENST00000311413.4	+	1	1835	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	RP11-334E6.10_ENST00000501918.2_RNA|C1QTNF5_ENST00000525657.1_5'Flank	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	413						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.V413V(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCACCCCGTCTACCACCGCA	0.632																																																	1	Substitution - coding silent(1)	cervix(1)											76.0	72.0	74.0					11																	119207071		2199	4295	6494	SO:0001819	synonymous_variant	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.1239C>T	11.37:g.119207071C>T			Q542Y8	Silent	SNP	pfscan_Znf_RING	p.V413	ENST00000311413.4	37	c.1239	CCDS8419.1	11																																																																																			RNF26	-	pfscan_Znf_RING		0.632	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF26	HGNC	protein_coding	OTTHUMT00000388220.1	C	NM_032015		119207071	+1	no_errors	ENST00000311413	ensembl	human	known	70_37	silent	SNP	0.985	T
RNF32	140545	genome.wustl.edu	37	7	156468504	156468504	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:156468504G>C	ENST00000405335.1	+	9	1208	c.799G>C	c.(799-801)Gaa>Caa	p.E267Q	RNF32_ENST00000317955.5_Missense_Mutation_p.E267Q|RNF32_ENST00000343665.4_Missense_Mutation_p.E243Q|RNF32_ENST00000311822.8_Missense_Mutation_p.E267Q|RNF32_ENST00000392743.2_Missense_Mutation_p.E267Q|RNF32_ENST00000432459.2_Missense_Mutation_p.E267Q|LMBR1_ENST00000430825.2_Intron			Q9H0A6	RNF32_HUMAN	ring finger protein 32	267						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)	p.E267Q(2)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCAGTTGGAAGAAAAATGTGG	0.493																																																	2	Substitution - Missense(2)	cervix(2)											148.0	140.0	143.0					7																	156468504		2203	4300	6503	SO:0001583	missense	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.799G>C	7.37:g.156468504G>C	ENSP00000385285:p.Glu267Gln		Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING	p.E267Q	ENST00000405335.1	37	c.799	CCDS5944.1	7	.	.	.	.	.	.	.	.	.	.	G	3.883	-0.025620	0.07589	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000343665	T;T;T;T;T;T	0.23950	2.2;2.2;2.2;1.91;2.2;1.88	5.22	3.38	0.38709	.	0.375414	0.33572	N	0.004763	T	0.20618	0.0496	L	0.60455	1.87	0.09310	N	0.999995	P;B	0.38767	0.646;0.309	B;B	0.33690	0.168;0.109	T	0.14200	-1.0481	10	0.40728	T	0.16	-3.5354	6.8761	0.24147	0.1589:0.0:0.6944:0.1467	.	267;267	G5E940;Q9H0A6	.;RNF32_HUMAN	Q	267;267;267;267;267;243	ENSP00000405588:E267Q;ENSP00000315950:E267Q;ENSP00000385285:E267Q;ENSP00000308894:E267Q;ENSP00000376499:E267Q;ENSP00000341185:E243Q	ENSP00000308894:E267Q	E	+	1	0	RNF32	156161265	0.081000	0.21417	0.165000	0.22776	0.016000	0.09150	1.723000	0.38053	1.189000	0.43028	0.650000	0.86243	GAA	RNF32	-	NULL		0.493	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF32	HGNC	protein_coding	OTTHUMT00000322660.2	G	NM_030936		156468504	+1	no_errors	ENST00000317955	ensembl	human	known	70_37	missense	SNP	0.047	C
RNF32	140545	genome.wustl.edu	37	7	156468519	156468519	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:156468519G>A	ENST00000405335.1	+	9	1223	c.814G>A	c.(814-816)Gag>Aag	p.E272K	RNF32_ENST00000317955.5_Missense_Mutation_p.E272K|RNF32_ENST00000343665.4_Missense_Mutation_p.E248K|RNF32_ENST00000311822.8_Missense_Mutation_p.E272K|RNF32_ENST00000392743.2_Missense_Mutation_p.E272K|RNF32_ENST00000432459.2_Missense_Mutation_p.E272K|LMBR1_ENST00000430825.2_Intron			Q9H0A6	RNF32_HUMAN	ring finger protein 32	272						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)	p.E272K(2)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATGTGGCCATGAGATCACAGA	0.493																																																	2	Substitution - Missense(2)	cervix(2)											137.0	129.0	131.0					7																	156468519		2203	4300	6503	SO:0001583	missense	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.814G>A	7.37:g.156468519G>A	ENSP00000385285:p.Glu272Lys		Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING	p.E272K	ENST00000405335.1	37	c.814	CCDS5944.1	7	.	.	.	.	.	.	.	.	.	.	G	6.315	0.426311	0.11987	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000343665	T;T;T;T;T;T	0.22945	2.28;2.28;2.28;1.93;2.28;1.95	5.22	2.15	0.27550	.	0.917396	0.09543	N	0.787984	T	0.18964	0.0455	L	0.43701	1.375	0.09310	N	1	B;B	0.17852	0.024;0.011	B;B	0.17433	0.018;0.003	T	0.37865	-0.9687	10	0.12766	T	0.61	-6.1983	6.0491	0.19775	0.2705:0.2253:0.5042:0.0	.	272;272	G5E940;Q9H0A6	.;RNF32_HUMAN	K	272;272;272;272;272;248	ENSP00000405588:E272K;ENSP00000315950:E272K;ENSP00000385285:E272K;ENSP00000308894:E272K;ENSP00000376499:E272K;ENSP00000341185:E248K	ENSP00000308894:E272K	E	+	1	0	RNF32	156161280	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.064000	0.14437	0.470000	0.27294	0.650000	0.86243	GAG	RNF32	-	NULL		0.493	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF32	HGNC	protein_coding	OTTHUMT00000322660.2	G	NM_030936		156468519	+1	no_errors	ENST00000317955	ensembl	human	known	70_37	missense	SNP	0.000	A
RNF40	9810	genome.wustl.edu	37	16	30776605	30776605	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:30776605G>A	ENST00000324685.6	+	7	1310	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	RNF40_ENST00000357890.5_Missense_Mutation_p.R292Q|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.R292Q|C16orf93_ENST00000543610.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	292					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R292P(1)|p.R292Q(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGCGGAAGCGAGAGCAAAAG	0.597																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											104.0	101.0	102.0					16																	30776605		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.875G>A	16.37:g.30776605G>A	ENSP00000325677:p.Arg292Gln		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R292Q	ENST00000324685.6	37	c.875	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.303946	0.95601	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	T;T	0.45668	1.54;0.89	5.66	5.66	0.87406	.	0.057067	0.64402	D	0.000002	T	0.59101	0.2169	M	0.70275	2.135	0.80722	D	1	P;D;D	0.69078	0.938;0.997;0.997	B;P;P	0.61328	0.363;0.887;0.856	T	0.62397	-0.6863	10	0.87932	D	0	-9.844	11.9312	0.52847	0.0807:0.0:0.9193:0.0	.	292;292;292	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	Q	292;292;141	ENSP00000325677:R292Q;ENSP00000350563:R292Q	ENSP00000325677:R292Q	R	+	2	0	RNF40	30684106	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	7.679000	0.84048	2.667000	0.90743	0.563000	0.77884	CGA	RNF40	-	NULL		0.597	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30776605	+1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	0.998	A
RNMT	8731	genome.wustl.edu	37	18	13731616	13731616	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:13731616G>C	ENST00000383314.2	+	3	340	c.100G>C	c.(100-102)Gaa>Caa	p.E34Q	RNMT_ENST00000262173.3_Missense_Mutation_p.E34Q|RNMT_ENST00000589866.1_Missense_Mutation_p.E34Q|RNMT_ENST00000592764.1_Missense_Mutation_p.E34Q|RNMT_ENST00000543302.2_Missense_Mutation_p.E34Q|RNMT_ENST00000535051.1_Intron			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	34					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.E34Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						CAATATTAATGAAAACACAAC	0.373																																					GBM(29;474 594 19092 36647 41529)												1	Substitution - Missense(1)	cervix(1)											111.0	126.0	121.0					18																	13731616		2203	4300	6503	SO:0001583	missense	8731			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.100G>C	18.37:g.13731616G>C	ENSP00000372804:p.Glu34Gln		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	p.E34Q	ENST00000383314.2	37	c.100	CCDS11867.1	18	.	.	.	.	.	.	.	.	.	.	G	15.74	2.924032	0.52653	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.23	4.36	0.52297	.	0.358466	0.31415	N	0.007684	T	0.61999	0.2392	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.986	T	0.61252	-0.7100	9	0.42905	T	0.14	-0.1611	10.1895	0.43017	0.0935:0.0:0.9065:0.0	.	34;34	O43148-2;O43148	.;MCES_HUMAN	Q	34	.	ENSP00000262173:E34Q	E	+	1	0	RNMT	13721616	0.243000	0.23878	0.749000	0.31150	0.506000	0.33950	1.151000	0.31651	1.328000	0.45358	0.655000	0.94253	GAA	RNMT	-	pirsf_mRNA_G-N7_MeTrfase		0.373	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMT	HGNC	protein_coding	OTTHUMT00000254636.1	G	NM_003799		13731616	+1	no_errors	ENST00000262173	ensembl	human	known	70_37	missense	SNP	0.958	C
ROBO2	6092	genome.wustl.edu	37	3	77623803	77623803	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:77623803G>C	ENST00000461745.1	+	14	3025	c.2125G>C	c.(2125-2127)Gaa>Caa	p.E709Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.E725Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.E709Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	709	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.E725Q(1)|p.E709Q(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGTGACTTATGAAATTAAAGT	0.413																																																	2	Substitution - Missense(2)	cervix(2)											61.0	56.0	58.0					3																	77623803		1841	4104	5945	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2125G>C	3.37:g.77623803G>C	ENSP00000417164:p.Glu709Gln		O43608|Q19AB4|Q19AB5	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.E709Q	ENST00000461745.1	37	c.2125	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221691	0.58560	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.58358	0.34;0.34;0.34	5.67	5.67	0.87782	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000240	T	0.70474	0.3228	L	0.58669	1.825	0.50039	D	0.999846	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.66118	-0.6003	9	0.35671	T	0.21	.	19.7585	0.96304	0.0:0.0:1.0:0.0	.	725;709;709	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	725;725;729;709;709;430	ENSP00000417335:E725Q;ENSP00000417164:E709Q;ENSP00000327536:E709Q	ENSP00000327536:E709Q	E	+	1	0	ROBO2	77706493	1.000000	0.71417	0.998000	0.56505	0.136000	0.21042	9.866000	0.99616	2.665000	0.90641	0.585000	0.79938	GAA	ROBO2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	G	XM_031246		77623803	+1	no_errors	ENST00000461745	ensembl	human	known	70_37	missense	SNP	1.000	C
ROBO4	54538	genome.wustl.edu	37	11	124761385	124761385	+	Missense_Mutation	SNP	G	G	C	rs111626453		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:124761385G>C	ENST00000306534.3	-	12	2243	c.1758C>G	c.(1756-1758)atC>atG	p.I586M	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.I441M	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	586					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I586M(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCAGCTCAGCGATGAGGGAGC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											32.0	42.0	39.0					11																	124761385		2201	4299	6500	SO:0001583	missense	54538			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1758C>G	11.37:g.124761385G>C	ENSP00000304945:p.Ile586Met		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I586M	ENST00000306534.3	37	c.1758	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425455	0.43020	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64438	-0.1;0.26	5.99	-0.643	0.11482	.	0.000000	0.39834	N	0.001258	T	0.51176	0.1659	L	0.53249	1.67	0.28077	N	0.932339	P;P;P	0.47841	0.737;0.901;0.841	B;B;B	0.43413	0.268;0.419;0.24	T	0.49597	-0.8923	10	0.45353	T	0.12	.	5.6283	0.17495	0.421:0.1511:0.4278:0.0	.	586;476;586	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	M	586;476;441	ENSP00000304945:I586M;ENSP00000437129:I441M	ENSP00000304945:I586M	I	-	3	3	ROBO4	124266595	0.040000	0.19996	0.995000	0.50966	0.972000	0.66771	-0.426000	0.07008	0.073000	0.16731	-0.140000	0.14226	ATC	ROBO4	-	NULL		0.627	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	G	NM_019055		124761385	-1	no_errors	ENST00000306534	ensembl	human	known	70_37	missense	SNP	0.912	C
ROCK2	9475	genome.wustl.edu	37	2	11341440	11341440	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:11341440C>T	ENST00000315872.6	-	22	3167	c.2719G>A	c.(2719-2721)Gaa>Aaa	p.E907K	ROCK2_ENST00000401753.1_Missense_Mutation_p.E664K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	907					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|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 circadian rhythm (GO:0042752)|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)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.E907K(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ACTTACCGTTCATCCTGTAAT	0.358																																																	2	Substitution - Missense(2)	cervix(2)											227.0	206.0	213.0					2																	11341440		1858	4103	5961	SO:0001583	missense	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2719G>A	2.37:g.11341440C>T	ENSP00000317985:p.Glu907Lys		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,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.E907K	ENST00000315872.6	37	c.2719	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.337953	0.95758	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64991	-0.13;0.88	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.81497	-0.0906	10	0.52906	T	0.07	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	907	O75116	ROCK2_HUMAN	K	907;664;265	ENSP00000317985:E907K;ENSP00000385509:E664K	ENSP00000317985:E907K	E	-	1	0	ROCK2	11258891	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.084000	0.71335	2.588000	0.87417	0.491000	0.48974	GAA	ROCK2	-	pirsf_Rho-assoc_coiled-coil_kin		0.358	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	C			11341440	-1	no_errors	ENST00000315872	ensembl	human	known	70_37	missense	SNP	1.000	T
ROMO1	140823	genome.wustl.edu	37	20	34287611	34287611	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:34287611C>T	ENST00000374078.1	+	2	237	c.57C>T	c.(55-57)gtC>gtT	p.V19V	ROMO1_ENST00000374072.1_Silent_p.V19V|NFS1_ENST00000540053.1_5'Flank|ROMO1_ENST00000336695.4_Silent_p.V19V|NFS1_ENST00000541387.1_5'Flank|ROMO1_ENST00000397416.1_Silent_p.V19V|NFS1_ENST00000374085.1_5'Flank|ROMO1_ENST00000374077.3_Silent_p.V19V|NFS1_ENST00000397425.1_5'Flank|NFS1_ENST00000306750.3_5'Flank|NFS1_ENST00000374092.4_5'Flank	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	19					cellular response to reactive oxygen species (GO:0034614)|defense response to bacterium (GO:0042742)|positive regulation of cell proliferation (GO:0008284)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|replicative cell aging (GO:0001302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.V19V(1)		cervix(1)	1						TCGACCGTGTCAAAATGGGCT	0.667											OREG0004048	type=REGULATORY REGION|Gene=NFS1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - coding silent(1)	cervix(1)											101.0	104.0	103.0					20																	34287611		2203	4300	6503	SO:0001819	synonymous_variant	140823			AK000548	CCDS13264.1	20q11.22	2008-09-30	2008-09-30	2008-09-30	ENSG00000125995	ENSG00000125995			16185	protein-coding gene	gene with protein product	"""mitochondrial targeting GXXXG protein"""		"""chromosome 20 open reading frame 52"""	C20orf52		18313394, 17537404, 16842742	Standard	NM_080748		Approved	bA353C18.2, MTGMP	uc002xdy.3	P60602	OTTHUMG00000032360	ENST00000374078.1:c.57C>T	20.37:g.34287611C>T		846	A7M872|E1P5R9|E9KL28|Q3MHD5|Q5QP16|Q9CQ98|Q9H1N2	Silent	SNP	pfam_Romo1	p.V19	ENST00000374078.1	37	c.57	CCDS13264.1	20																																																																																			ROMO1	-	pfam_Romo1		0.667	ROMO1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROMO1	HGNC	protein_coding	OTTHUMT00000126404.1	C	NM_080748		34287611	+1	no_errors	ENST00000336695	ensembl	human	known	70_37	silent	SNP	1.000	T
RP1	6101	genome.wustl.edu	37	8	55538983	55538983	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:55538983G>C	ENST00000220676.1	+	4	2689	c.2541G>C	c.(2539-2541)ttG>ttC	p.L847F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	847					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.L847F(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTGGGTATTTGAGAGGAATGG	0.343																																					Colon(91;1014 1389 7634 14542 40420)												1	Substitution - Missense(1)	cervix(1)											43.0	46.0	45.0					8																	55538983		2203	4298	6501	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2541G>C	8.37:g.55538983G>C	ENSP00000220676:p.Leu847Phe			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L847F	ENST00000220676.1	37	c.2541	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643723	0.47258	.	.	ENSG00000104237	ENST00000220676	T	0.57107	0.42	5.63	4.74	0.60224	.	0.386417	0.19167	N	0.121046	T	0.49830	0.1580	L	0.60455	1.87	0.31176	N	0.702584	P	0.51933	0.949	P	0.44696	0.458	T	0.61681	-0.7013	10	0.87932	D	0	.	7.26	0.26197	0.1085:0.0:0.7256:0.1659	.	847	P56715	RP1_HUMAN	F	847	ENSP00000220676:L847F	ENSP00000220676:L847F	L	+	3	2	RP1	55701536	0.755000	0.28372	0.973000	0.42090	0.852000	0.48524	1.622000	0.36997	1.306000	0.44926	0.655000	0.94253	TTG	RP1	-	NULL		0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55538983	+1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.895	C
RPAP1	26015	genome.wustl.edu	37	15	41815045	41815045	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:41815045G>A	ENST00000304330.4	-	19	2776	c.2660C>T	c.(2659-2661)tCa>tTa	p.S887L	RPAP1_ENST00000561603.1_Missense_Mutation_p.S887L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	887	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.S887L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGTGAGGCTGAGCCAGCCAG	0.637																																																	1	Substitution - Missense(1)	cervix(1)											64.0	55.0	58.0					15																	41815045		2202	4300	6502	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2660C>T	15.37:g.41815045G>A	ENSP00000306123:p.Ser887Leu		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.S887L	ENST00000304330.4	37	c.2660	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517683	0.85495	.	.	ENSG00000103932	ENST00000304330	T	0.12879	2.64	5.27	5.27	0.74061	.	0.208913	0.42964	D	0.000623	T	0.19485	0.0468	L	0.60455	1.87	0.49299	D	0.999773	B	0.32939	0.391	B	0.32928	0.155	T	0.02167	-1.1202	10	0.87932	D	0	-19.7813	19.0978	0.93260	0.0:0.0:1.0:0.0	.	887	Q9BWH6	RPAP1_HUMAN	L	887	ENSP00000306123:S887L	ENSP00000306123:S887L	S	-	2	0	RPAP1	39602337	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.201000	0.77847	2.735000	0.93741	0.655000	0.94253	TCA	RPAP1	-	NULL		0.637	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	G	NM_015540		41815045	-1	no_errors	ENST00000304330	ensembl	human	known	70_37	missense	SNP	1.000	A
RPL18	6141	genome.wustl.edu	37	19	49119188	49119188	+	Missense_Mutation	SNP	C	C	T	rs368131281		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49119188C>T	ENST00000549920.1	-	6	829	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	RPL18_ENST00000552588.1_Missense_Mutation_p.R117Q|RPL18_ENST00000550645.1_Intron|FAM83E_ENST00000263266.3_5'Flank|RPL18_ENST00000549273.1_Missense_Mutation_p.R146Q|FAM83E_ENST00000595110.1_5'Flank	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	146					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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R146Q(1)		cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GTACACCTCTCGGCCCTTGCG	0.657																																																	1	Substitution - Missense(1)	cervix(1)						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	35.0	35.0	35.0		437	5.2	1.0	19		35	0,8600		0,0,4300	no	missense	RPL18	NM_000979.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	146/189	49119188	1,13005	2203	4300	6503	SO:0001583	missense	6141			L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"""L ribosomal proteins"""	10310	protein-coding gene	gene with protein product	"""60S ribosomal protein L18"""	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.437G>A	19.37:g.49119188C>T	ENSP00000447001:p.Arg146Gln		F8VWC5|Q8WTZ6	Missense_Mutation	SNP	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.R146Q	ENST00000549920.1	37	c.437	CCDS12726.1	19	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778392	0.90195	2.27E-4	0.0	ENSG00000063177	ENST00000549920;ENST00000552588;ENST00000549273;ENST00000550973	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	H	0.96996	3.92	0.80722	D	1	P	0.38992	0.653	B	0.27887	0.084	D	0.84109	0.0400	9	0.87932	D	0	-1.7481	16.7117	0.85387	0.0:1.0:0.0:0.0	.	146	Q07020	RL18_HUMAN	Q	146;117;146;94	.	ENSP00000449610:R146Q	R	-	2	0	RPL18	53811000	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	6.758000	0.74929	2.627000	0.88993	0.467000	0.42956	CGA	RPL18	-	NULL		0.657	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL18	HGNC	protein_coding	OTTHUMT00000405732.2	C	NM_000979		49119188	-1	no_errors	ENST00000549920	ensembl	human	known	70_37	missense	SNP	1.000	T
RPL27	6155	genome.wustl.edu	37	17	41154798	41154798	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:41154798G>C	ENST00000589913.1	+	3	634	c.360G>C	c.(358-360)gaG>gaC	p.E120D	RPL27_ENST00000253788.5_Missense_Mutation_p.E120D|RPL27_ENST00000590864.1_Missense_Mutation_p.E64D|RPL27_ENST00000589037.1_Missense_Mutation_p.E120D			P61353	RL27_HUMAN	ribosomal protein L27	120					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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E120D(1)		cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		AGTTTGAAGAGAGGTAAGTAG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											108.0	111.0	110.0					17																	41154798		2203	4300	6503	SO:0001583	missense	6155				CCDS11449.1	17q21	2011-04-06				ENSG00000131469		"""L ribosomal proteins"""	10328	protein-coding gene	gene with protein product	"""60S ribosomal protein L27"""	607526				1302024	Standard	NM_000988		Approved	L27	uc002icj.3	P61353		ENST00000589913.1:c.360G>C	17.37:g.41154798G>C	ENSP00000464813:p.Glu120Asp		P08526|Q4G0A9	Missense_Mutation	SNP	pfam_Ribosomal_L27e,pfam_KOW,smart_KOW	p.E120D	ENST00000589913.1	37	c.360	CCDS11449.1	17	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038024	0.54896	.	.	ENSG00000131469	ENST00000253788	.	.	.	4.89	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	L	0.46567	1.45	0.58432	D	0.999997	B	0.11235	0.004	B	0.16289	0.015	T	0.53830	-0.8383	9	0.51188	T	0.08	-19.2438	10.7277	0.46079	0.1545:0.0:0.8455:0.0	.	120	P61353	RL27_HUMAN	D	120	.	ENSP00000253788:E120D	E	+	3	2	RPL27	38408324	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.371000	0.34250	1.405000	0.46838	0.650000	0.86243	GAG	RPL27	-	pfam_Ribosomal_L27e		0.448	RPL27-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL27	HGNC	protein_coding	OTTHUMT00000452472.1	G	NM_000988		41154798	+1	no_errors	ENST00000253788	ensembl	human	known	70_37	missense	SNP	1.000	C
RPL7A	6130	genome.wustl.edu	37	9	136216355	136216355	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:136216355G>A	ENST00000323345.6	+	3	154				RPL7A_ENST00000315731.4_Intron|RPL7A_ENST00000463740.1_Intron|SURF1_ENST00000495952.1_5'Flank|MED22_ENST00000344469.5_5'Flank|SNORD36B_ENST00000363961.1_RNA|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000343730.5_5'Flank|SNORD36A_ENST00000362874.1_RNA|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000371999.1_5'Flank|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000476080.1_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a						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)|ribosome biogenesis (GO:0042254)|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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CCCCAGACATGAACTTGACAT	0.473																																																	0													68.0	71.0	70.0					9																	136216355		2203	4300	6503	SO:0001627	intron_variant	6130			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.125-51G>A	9.37:g.136216355G>A			P11518|Q5T8U4	RNA	SNP	-	NULL	ENST00000323345.6	37	NULL	CCDS6965.1	9																																																																																			RPL7A	-	-		0.473	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1	G	NM_000972		136216355	+1	no_errors	ENST00000489392	ensembl	human	known	70_37	rna	SNP	0.000	A
RPS10	6204	genome.wustl.edu	37	6	34386188	34386188	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:34386188C>G	ENST00000326199.8	-	5	507	c.414G>C	c.(412-414)aaG>aaC	p.K138N	RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000344700.3_Missense_Mutation_p.K138N|RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.K138N	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	138					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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)	p.K138N(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						CCTCGGCTTTCTTGTCGGCAC	0.448																																					Colon(121;749 1624 4895 8687 22360)												1	Substitution - Missense(1)	cervix(1)											72.0	70.0	70.0					6																	34386188		2203	4300	6503	SO:0001583	missense	6204			U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"""S ribosomal proteins"""	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.414G>C	6.37:g.34386188C>G	ENSP00000347271:p.Lys138Asn		B2R4E3|Q5TZC0	Missense_Mutation	SNP	pfam_S10_plectin_N	p.K138N	ENST00000326199.8	37	c.414	CCDS4792.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113994	0.77210	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	T;T	0.78481	-1.16;-1.18	4.87	3.98	0.46160	.	0.202673	0.43747	D	0.000525	D	0.84942	0.5584	H	0.94808	3.585	0.80722	D	1	D	0.59767	0.986	P	0.52514	0.701	D	0.88658	0.3187	10	0.72032	D	0.01	-14.2067	12.87	0.57960	0.0:0.9204:0.0:0.0796	.	138	P46783	RS10_HUMAN	N	138	ENSP00000347271:K138N;ENSP00000363169:K138N	ENSP00000347271:K138N	K	-	3	2	RPS10	34494166	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.961000	0.40432	2.393000	0.81446	0.591000	0.81541	AAG	RPS10	-	NULL		0.448	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS10	HGNC	protein_coding	OTTHUMT00000040230.1	C			34386188	-1	no_errors	ENST00000326199	ensembl	human	known	70_37	missense	SNP	1.000	G
RPS5	6193	genome.wustl.edu	37	19	58906057	58906057	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:58906057G>A	ENST00000596046.1	+	5	1404	c.555G>A	c.(553-555)tcG>tcA	p.S185S	RPS5_ENST00000601521.1_Silent_p.S185S|RPS5_ENST00000598098.1_Silent_p.S115S|RPS5_ENST00000598495.1_Silent_p.S206S|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000196551.3_Silent_p.S185S			P46782	RS5_HUMAN	ribosomal protein S5	185					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)|regulation of translational fidelity (GO:0006450)|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)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.S185S(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		AGGGCTCCTCGAACTCCTATG	0.562																																																	1	Substitution - coding silent(1)	cervix(1)											113.0	120.0	118.0					19																	58906057		2203	4300	6503	SO:0001819	synonymous_variant	6193			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.555G>A	19.37:g.58906057G>A			B2R4T2|Q96BN0	Silent	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.S185	ENST00000596046.1	37	c.555	CCDS12978.1	19																																																																																			RPS5	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc		0.562	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	G	NM_001009		58906057	+1	no_errors	ENST00000196551	ensembl	human	known	70_37	silent	SNP	0.970	A
RPS6KA2	6196	genome.wustl.edu	37	6	166918098	166918098	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:166918098G>C	ENST00000265678.4	-	6	685	c.462C>G	c.(460-462)gtC>gtG	p.V154V	RPS6KA2_ENST00000405189.3_Silent_p.V65V|RPS6KA2_ENST00000481261.2_Silent_p.V65V|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000510118.1_Silent_p.V179V|RPS6KA2_ENST00000503859.1_Silent_p.V162V	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	154	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.V162V(1)|p.V154V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCGTGAACATGACCTAGTAAG	0.438																																																	2	Substitution - coding silent(2)	cervix(2)											110.0	102.0	105.0					6																	166918098		2203	4300	6503	SO:0001819	synonymous_variant	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.462C>G	6.37:g.166918098G>C			B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V179	ENST00000265678.4	37	c.537	CCDS5294.1	6																																																																																			RPS6KA2	-	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_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.438	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	G	NM_021135		166918098	-1	no_errors	ENST00000510118	ensembl	human	known	70_37	silent	SNP	1.000	C
RPS6KB2	6199	genome.wustl.edu	37	11	67202364	67202364	+	Intron	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:67202364C>A	ENST00000312629.5	+	15	1313				AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2						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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GGCCTGTGTGCCTGGGCAGGT	0.627																																																	0																																										SO:0001627	intron_variant	6199			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1269-96C>A	11.37:g.67202364C>A			B2RMZ9|B4DML8|O94809|Q9UEC1	RNA	SNP	-	NULL	ENST00000312629.5	37	NULL	CCDS41677.1	11																																																																																			RPS6KB2	-	-		0.627	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB2	HGNC	protein_coding	OTTHUMT00000395508.1	C	NM_003952		67202364	+1	no_errors	ENST00000531765	ensembl	human	putative	70_37	rna	SNP	0.002	A
RRN3P1	730092	genome.wustl.edu	37	16	21812093	21812093	+	RNA	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:21812093G>T	ENST00000546471.1	-	0	1765							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CCTGCCTGATGATGGCAGGAT	0.373																																																	0																																												730092					16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21812093G>T			A8K6T4|B3KWX9|O75704	RNA	SNP	-	NULL	ENST00000546471.1	37	NULL		16																																																																																			RRN3P1	-	-		0.373	RRN3P1-002	KNOWN	basic	processed_transcript	RRN3P1	HGNC	pseudogene	OTTHUMT00000409035.1	G	NR_003370		21812093	-1	no_errors	ENST00000546471	ensembl	human	known	70_37	rna	SNP	1.000	T
RRP12	23223	genome.wustl.edu	37	10	99160214	99160214	+	Missense_Mutation	SNP	C	C	T	rs367633522		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:99160214C>T	ENST00000370992.4	-	2	328	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RRP12_ENST00000315563.6_Missense_Mutation_p.E73K|RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000414986.1_Missense_Mutation_p.E73K	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	73						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E73K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCGGGGCTTCGCTTTTGCCC	0.562																																																	1	Substitution - Missense(1)	cervix(1)						C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	95.0	91.0	92.0		217,217	2.8	0.1	10		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RRP12	NM_001145114.1,NM_015179.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	73/1237,73/1298	99160214	1,13005	2203	4300	6503	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.217G>A	10.37:g.99160214C>T	ENSP00000360031:p.Glu73Lys		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.E73K	ENST00000370992.4	37	c.217	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868698	0.32977	0.0	1.16E-4	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986	T;T;T	0.30981	1.54;1.51;1.52	5.7	2.76	0.32466	.	0.620996	0.17041	N	0.189319	T	0.20495	0.0493	L	0.40543	1.245	0.52501	D	0.999955	B;B;B	0.29909	0.001;0.001;0.261	B;B;B	0.18263	0.0;0.001;0.021	T	0.04140	-1.0974	10	0.33940	T	0.23	-0.1604	7.1766	0.25749	0.0:0.5848:0.2673:0.1479	.	73;73;73	E9PCK7;Q5JTH9-2;Q5JTH9	.;.;RRP12_HUMAN	K	73	ENSP00000360031:E73K;ENSP00000324315:E73K;ENSP00000414863:E73K	ENSP00000324315:E73K	E	-	1	0	RRP12	99150204	0.563000	0.26594	0.093000	0.20910	0.104000	0.19210	2.370000	0.44240	0.308000	0.22923	0.462000	0.41574	GAA	RRP12	-	NULL		0.562	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	C	NM_015179		99160214	-1	no_errors	ENST00000370992	ensembl	human	known	70_37	missense	SNP	0.515	T
RSPO3	84870	genome.wustl.edu	37	6	127469843	127469843	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:127469843G>C	ENST00000356698.4	+	2	737	c.148G>C	c.(148-150)Gat>Cat	p.D50H	RSPO3_ENST00000368317.3_Missense_Mutation_p.D50H|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	50					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.D50H(1)	PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AACATGCTCAGATTACAATGG	0.413																																																	1	Substitution - Missense(1)	cervix(1)											157.0	144.0	148.0					6																	127469843		2203	4299	6502	SO:0001583	missense	84870			BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.148G>C	6.37:g.127469843G>C	ENSP00000349131:p.Asp50His		B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.D50H	ENST00000356698.4	37	c.148	CCDS5135.1	6	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357395	0.82243	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	T;T	0.80824	-1.42;-1.42	5.93	5.06	0.68205	Growth factor, receptor (1);	0.086812	0.85682	D	0.000000	D	0.84502	0.5486	M	0.80422	2.495	0.49915	D	0.999833	D;P	0.65815	0.995;0.93	P;P	0.56514	0.8;0.557	D	0.86950	0.2085	10	0.62326	D	0.03	-13.4711	14.9691	0.71220	0.0681:0.0:0.9319:0.0	.	50;50	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	H	50	ENSP00000349131:D50H;ENSP00000357300:D50H	ENSP00000349131:D50H	D	+	1	0	RSPO3	127511536	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.636000	0.83301	1.516000	0.48900	0.655000	0.94253	GAT	RSPO3	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat		0.413	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO3	HGNC	protein_coding	OTTHUMT00000042111.1	G	NM_032784		127469843	+1	no_errors	ENST00000368317	ensembl	human	known	70_37	missense	SNP	1.000	C
RTN3	10313	genome.wustl.edu	37	11	63486746	63486746	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:63486746G>A	ENST00000377819.5	+	3	926	c.772G>A	c.(772-774)Gac>Aac	p.D258N	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.D146N|RTN3_ENST00000339997.4_Missense_Mutation_p.D239N|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	258					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D239N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGCAGCATTTGACAAAGAATT	0.358																																																	1	Substitution - Missense(1)	cervix(1)											72.0	75.0	74.0					11																	63486746		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.772G>A	11.37:g.63486746G>A	ENSP00000367050:p.Asp258Asn		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.D258N	ENST00000377819.5	37	c.772	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514685	0.85389	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.16743	2.32;2.32;2.32	5.98	5.98	0.97165	.	0.278351	0.30556	N	0.009369	T	0.32675	0.0837	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.01276	-1.1398	10	0.87932	D	0	-19.3294	15.9521	0.79846	0.0:0.0:1.0:0.0	.	146;258;239	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	N	258;239;146	ENSP00000367050:D258N;ENSP00000344106:D239N;ENSP00000442733:D146N	ENSP00000344106:D239N	D	+	1	0	RTN3	63243322	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.656000	0.67988	2.838000	0.97847	0.591000	0.81541	GAC	RTN3	-	NULL		0.358	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	G	NM_006054		63486746	+1	no_errors	ENST00000377819	ensembl	human	known	70_37	missense	SNP	1.000	A
RXFP2	122042	genome.wustl.edu	37	13	32371488	32371488	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:32371488C>G	ENST00000298386.2	+	17	2008	c.1937C>G	c.(1936-1938)tCt>tGt	p.S646C	RXFP2_ENST00000380314.1_Missense_Mutation_p.S622C	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	646					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.S646C(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATAGTGTTCTCTGATGCCATC	0.403																																																	1	Substitution - Missense(1)	cervix(1)											215.0	209.0	211.0					13																	32371488		2203	4300	6503	SO:0001583	missense	122042			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1937C>G	13.37:g.32371488C>G	ENSP00000298386:p.Ser646Cys		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.S646C	ENST00000298386.2	37	c.1937	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543215	0.86022	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.72394	-0.65;-0.65	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.051556	0.85682	D	0.000000	D	0.82715	0.5097	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.83573	0.0113	10	0.87932	D	0	.	19.7375	0.96212	0.0:1.0:0.0:0.0	.	622;646	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	C	622;646	ENSP00000369670:S622C;ENSP00000298386:S646C	ENSP00000298386:S646C	S	+	2	0	RXFP2	31269488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.467000	0.60155	2.680000	0.91292	0.655000	0.94253	TCT	RXFP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt		0.403	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	C	NM_130806		32371488	+1	no_errors	ENST00000298386	ensembl	human	known	70_37	missense	SNP	1.000	G
RYR2	6262	genome.wustl.edu	37	1	237754039	237754039	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:237754039C>T	ENST00000366574.2	+	31	4224	c.3907C>T	c.(3907-3909)Cgc>Tgc	p.R1303C	RYR2_ENST00000360064.6_Missense_Mutation_p.R1301C|RYR2_ENST00000542537.1_Missense_Mutation_p.R1287C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1303	4 X approximate repeats.				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)	p.R1301C(1)		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)			CATGTTTTATCGCCTGAGCAT	0.522																																																	1	Substitution - Missense(1)	cervix(1)											229.0	216.0	220.0					1																	237754039		1964	4164	6128	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.3907C>T	1.37:g.237754039C>T	ENSP00000355533:p.Arg1303Cys		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.R1301C	ENST00000366574.2	37	c.3901	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	c	11.67	1.708361	0.30322	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98280	-4.84;-4.83;-4.83	5.03	5.03	0.67393	.	0.000000	0.56097	D	0.000032	D	0.96956	0.9006	M	0.78456	2.415	0.80722	D	1	P	0.34892	0.474	B	0.28709	0.093	D	0.96743	0.9548	10	0.87932	D	0	.	13.8363	0.63410	0.1528:0.8472:0.0:0.0	.	1303	Q92736	RYR2_HUMAN	C	1303;1301;1287	ENSP00000355533:R1303C;ENSP00000353174:R1301C;ENSP00000443798:R1287C	ENSP00000353174:R1301C	R	+	1	0	RYR2	235820662	0.998000	0.40836	0.971000	0.41717	0.192000	0.23643	3.761000	0.55242	2.777000	0.95525	0.655000	0.94253	CGC	RYR2	-	NULL		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237754039	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.998	T
RYR2	6262	genome.wustl.edu	37	1	237872193	237872193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:237872193C>T	ENST00000366574.2	+	69	10254	c.9937C>T	c.(9937-9939)Cag>Tag	p.Q3313*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q3311*|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q3297*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3313					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)	p.Q3311*(1)		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)			AGTGAAACCTCAGCTCTTGAA	0.403																																																	1	Substitution - Nonsense(1)	cervix(1)											38.0	36.0	37.0					1																	237872193		1822	4082	5904	SO:0001587	stop_gained	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.9937C>T	1.37:g.237872193C>T	ENSP00000355533:p.Gln3313*		Q15411|Q546N8|Q5T3P2	Nonsense_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.Q3311*	ENST00000366574.2	37	c.9931	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	52	18.922414	0.99912	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.3683	15.392	0.74751	0.0:0.8614:0.1386:0.0	.	.	.	.	X	3313;3311;3297;268	.	ENSP00000353174:Q3311X	Q	+	1	0	RYR2	235938816	0.949000	0.32298	1.000000	0.80357	0.997000	0.91878	1.554000	0.36266	2.706000	0.92434	0.655000	0.94253	CAG	RYR2	-	NULL		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237872193	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	33872331	33872331	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:33872331C>G	ENST00000389232.4	+	13	1493	c.1423C>G	c.(1423-1425)Ctt>Gtt	p.L475V	RYR3_ENST00000415757.3_Missense_Mutation_p.L475V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	475					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)	p.L475V(3)		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)		CAGACAAAATCTTTTCAAGGA	0.443																																																	3	Substitution - Missense(3)	lung(2)|cervix(1)											37.0	37.0	37.0					15																	33872331		1909	4129	6038	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.1423C>G	15.37:g.33872331C>G	ENSP00000373884:p.Leu475Val		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.L475V	ENST00000389232.4	37	c.1423	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519419	0.85495	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.99376	-5.79;-5.79	5.15	5.15	0.70609	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000001	D	0.99477	0.9814	M	0.86651	2.83	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.77557	0.99;0.952	D	0.98681	1.0692	10	0.72032	D	0.01	.	18.8252	0.92115	0.0:1.0:0.0:0.0	.	475;475	Q15413-2;Q15413	.;RYR3_HUMAN	V	475	ENSP00000373884:L475V;ENSP00000399610:L475V	ENSP00000354735:L475V	L	+	1	0	RYR3	31659623	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.748000	0.62148	2.674000	0.91012	0.655000	0.94253	CTT	RYR3	-	pfam_Ca-rel_channel		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			33872331	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	G
RYR3	6263	genome.wustl.edu	37	15	33988603	33988603	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:33988603C>T	ENST00000389232.4	+	39	6115	c.6045C>T	c.(6043-6045)atC>atT	p.I2015I	RYR3_ENST00000415757.3_Silent_p.I2015I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2015	4 X approximate repeats.				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)	p.I2015I(1)		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)		GCGACACCATCAACCTGCTGG	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											94.0	100.0	98.0					15																	33988603		2141	4255	6396	SO:0001819	synonymous_variant	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.6045C>T	15.37:g.33988603C>T			O15175|Q15412	Silent	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.I2015	ENST00000389232.4	37	c.6045	CCDS45210.1	15																																																																																			RYR3	-	NULL		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			33988603	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	silent	SNP	0.996	T
SAG	6295	genome.wustl.edu	37	2	234255520	234255520	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:234255520G>A	ENST00000409110.1	+	16	1410	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	394					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)	p.E394K(2)		cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AGGAGAAGCTGAGGAGGGGAA	0.428																																																	2	Substitution - Missense(2)	cervix(2)											95.0	99.0	98.0					2																	234255520		1994	4157	6151	SO:0001583	missense	6295				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.1180G>A	2.37:g.234255520G>A	ENSP00000386444:p.Glu394Lys		A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.E394K	ENST00000409110.1	37	c.1180	CCDS46545.1	2	.	.	.	.	.	.	.	.	.	.	g	7.791	0.711534	0.15306	.	.	ENSG00000130561	ENST00000252857;ENST00000409110	T	0.07021	3.23	4.87	3.0	0.34707	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.229840	0.43110	D	0.000611	T	0.03520	0.0101	N	0.08118	0	0.32540	N	0.533726	B	0.02656	0.0	B	0.04013	0.001	T	0.36696	-0.9737	10	0.09338	T	0.73	-17.9404	7.8242	0.29305	0.2054:0.0:0.7946:0.0	.	394	P10523	ARRS_HUMAN	K	394	ENSP00000386444:E394K	ENSP00000252857:E394K	E	+	1	0	SAG	233920259	0.987000	0.35691	0.221000	0.23827	0.308000	0.27856	2.191000	0.42640	0.536000	0.28733	0.651000	0.88453	GAG	SAG	-	superfamily_Ig_E-set		0.428	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	HGNC	protein_coding	OTTHUMT00000330126.1	G	NM_000541		234255520	+1	no_errors	ENST00000409110	ensembl	human	known	70_37	missense	SNP	0.447	A
SAMD4A	23034	genome.wustl.edu	37	14	55168941	55168941	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:55168941G>C	ENST00000554335.1	+	3	1021	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	SAMD4A_ENST00000392067.3_Missense_Mutation_p.E120Q|SAMD4A_ENST00000357634.3_Missense_Mutation_p.E119Q|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000251091.5_Missense_Mutation_p.E120Q			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	120					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.E119Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CCAGCACATTGAGGAGAGCAG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											89.0	88.0	88.0					14																	55168941		2203	4300	6503	SO:0001583	missense	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.358G>C	14.37:g.55168941G>C	ENSP00000452535:p.Glu120Gln		A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.E120Q	ENST00000554335.1	37	c.358	CCDS32084.2	14	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984223	0.93044	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	T;T;T	0.73897	-0.79;-0.79;-0.79	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87657	0.6232	M	0.79258	2.445	0.40193	D	0.977422	D;D;D	0.89917	1.0;0.996;0.999	D;P;D	0.85130	0.997;0.899;0.994	D	0.87527	0.2450	10	0.72032	D	0.01	-14.6863	20.8794	0.99867	0.0:0.0:1.0:0.0	.	19;120;120	Q9UPU9-2;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	Q	120;120;120;119;119	ENSP00000452535:E120Q;ENSP00000375919:E120Q;ENSP00000350261:E119Q	ENSP00000306381:E120Q	E	+	1	0	SAMD4A	54238691	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG	SAMD4A	-	NULL		0.493	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	G	NM_015589		55168941	+1	no_errors	ENST00000392067	ensembl	human	known	70_37	missense	SNP	1.000	C
SCAF1	58506	genome.wustl.edu	37	19	50154543	50154543	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50154543G>A	ENST00000360565.3	+	7	1021	c.897G>A	c.(895-897)gaG>gaA	p.E299E		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	299					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.E299E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCATCTCGGAGACCCTGGCGG	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											18.0	19.0	19.0					19																	50154543		2202	4297	6499	SO:0001819	synonymous_variant	58506			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.897G>A	19.37:g.50154543G>A			Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	NULL	p.E299	ENST00000360565.3	37	c.897	CCDS33074.1	19																																																																																			SCAF1	-	NULL		0.642	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1	G	NM_021228		50154543	+1	no_errors	ENST00000360565	ensembl	human	known	70_37	silent	SNP	0.621	A
SCAF8	22828	genome.wustl.edu	37	6	155143334	155143334	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:155143334G>A	ENST00000367178.3	+	16	2368				SCAF8_ENST00000367186.4_Intron|SCAF8_ENST00000417268.1_Intron|RNU6-824P_ENST00000363724.1_RNA	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ATTTAGATGTGAAATAAATGA	0.348																																																	0																																										SO:0001627	intron_variant	22828			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1793-76G>A	6.37:g.155143334G>A			B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	RNA	SNP	-	NULL	ENST00000367178.3	37	NULL	CCDS5247.1	6																																																																																			SCAF8	-	-		0.348	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	G	NM_014892		155143334	+1	no_errors	ENST00000479234	ensembl	human	known	70_37	rna	SNP	0.000	A
SCN11A	11280	genome.wustl.edu	37	3	38926868	38926868	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:38926868G>C	ENST00000302328.3	-	17	3173	c.2975C>G	c.(2974-2976)tCa>tGa	p.S992*	SCN11A_ENST00000444237.2_Nonsense_Mutation_p.S992*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.S992*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.S954*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	992					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S992*(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTACATTCTGATAGTATACT	0.438																																																	1	Substitution - Nonsense(1)	cervix(1)											137.0	125.0	129.0					3																	38926868		2203	4300	6503	SO:0001587	stop_gained	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2975C>G	3.37:g.38926868G>C	ENSP00000307599:p.Ser992*		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.S992*	ENST00000302328.3	37	c.2975	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	44	10.815707	0.99472	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	.	.	.	5.06	5.06	0.68205	.	725.510000	0.01500	U	0.017478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4536	0.75297	0.0:0.0:1.0:0.0	.	.	.	.	X	992;992;954;992	.	ENSP00000307599:S992X	S	-	2	0	SCN11A	38901872	0.998000	0.40836	0.740000	0.30986	0.990000	0.78478	5.003000	0.63959	2.611000	0.88343	0.655000	0.94253	TCA	SCN11A	-	pfam_Na_trans_assoc		0.438	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	G	NM_014139		38926868	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	nonsense	SNP	0.749	C
SCN11A	11280	genome.wustl.edu	37	3	38946787	38946787	+	Missense_Mutation	SNP	C	C	A	rs373827019		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:38946787C>A	ENST00000302328.3	-	11	1697	c.1499G>T	c.(1498-1500)cGa>cTa	p.R500L	SCN11A_ENST00000444237.2_Missense_Mutation_p.R500L|SCN11A_ENST00000450244.1_Missense_Mutation_p.R500L|SCN11A_ENST00000456224.3_Missense_Mutation_p.R500L|AC116038.1_ENST00000401122.1_RNA	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	500					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R500L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGGGACAGTCGTTTGGTTTG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											223.0	204.0	211.0					3																	38946787		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1499G>T	3.37:g.38946787C>A	ENSP00000307599:p.Arg500Leu		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R500L	ENST00000302328.3	37	c.1499	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042262	0.75732	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96104	-3.91;-3.91;-3.87;-3.77	5.08	5.08	0.68730	.	3.553810	0.01151	N	0.006439	D	0.96466	0.8847	L	0.31476	0.935	0.35198	D	0.774041	D	0.89917	1.0	D	0.85130	0.997	D	0.88999	0.3420	10	0.20519	T	0.43	.	13.9849	0.64328	0.0:1.0:0.0:0.0	.	500	Q9UI33	SCNBA_HUMAN	L	500	ENSP00000307599:R500L;ENSP00000400945:R500L;ENSP00000416757:R500L;ENSP00000408028:R500L	ENSP00000307599:R500L	R	-	2	0	SCN11A	38921791	0.405000	0.25336	0.999000	0.59377	0.991000	0.79684	0.682000	0.25335	2.341000	0.79615	0.563000	0.77884	CGA	SCN11A	-	NULL		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	C	NM_014139		38946787	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	0.980	A
SCN4A	6329	genome.wustl.edu	37	17	62034657	62034657	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:62034657G>C	ENST00000435607.1	-	13	2317	c.2241C>G	c.(2239-2241)ttC>ttG	p.F747L	SCN4A_ENST00000578147.1_Missense_Mutation_p.F747L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	747					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)	p.F747L(1)		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)	AGGAGTGGAAGAAATCATGCA	0.597																																																	1	Substitution - Missense(1)	cervix(1)											90.0	93.0	92.0					17																	62034657		2203	4300	6503	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2241C>G	17.37:g.62034657G>C	ENSP00000396320:p.Phe747Leu		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.F747L	ENST00000435607.1	37	c.2241	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225476	0.79576	.	.	ENSG00000007314	ENST00000435607	D	0.98914	-5.23	3.91	3.91	0.45181	Ion transport (1);	0.100378	0.64402	D	0.000002	D	0.98957	0.9645	M	0.79614	2.46	0.52099	D	0.999949	D	0.89917	1.0	D	0.83275	0.996	D	0.99331	1.0909	10	0.87932	D	0	.	15.018	0.71600	0.0:0.0:1.0:0.0	.	747	P35499	SCN4A_HUMAN	L	747	ENSP00000396320:F747L	ENSP00000396320:F747L	F	-	3	2	SCN4A	59388389	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.663000	0.61532	2.180000	0.69256	0.561000	0.74099	TTC	SCN4A	-	pfam_Ion_trans_dom		0.597	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		G	NM_000334		62034657	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	missense	SNP	1.000	C
SCN5A	6331	genome.wustl.edu	37	3	38648291	38648291	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:38648291C>T	ENST00000333535.4	-	9	1158	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	SCN5A_ENST00000425664.1_Missense_Mutation_p.E337K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E337K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E337K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E337K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E337K|SCN5A_ENST00000413689.1_Missense_Mutation_p.E337K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E337K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E337K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E337K			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	337					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.E337K(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGTAGCCCTCCGGACATGTC	0.602																																																	2	Substitution - Missense(2)	cervix(2)											89.0	104.0	99.0					3																	38648291		2048	4191	6239	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1009G>A	3.37:g.38648291C>T	ENSP00000328968:p.Glu337Lys		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.E337K	ENST00000333535.4	37	c.1009	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436878	0.62955	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96554	-3.95;-3.99;-3.99;-3.98;-3.99;-3.95;-3.99;-4.05;-3.98;-3.99	4.73	4.73	0.59995	Ion transport (1);	0.053238	0.85682	D	0.000000	D	0.96611	0.8894	M	0.61703	1.905	0.49798	D	0.999826	B;P;B;D;B;D	0.63046	0.01;0.775;0.026;0.992;0.307;0.971	B;P;B;P;B;P	0.57152	0.015;0.526;0.022;0.814;0.112;0.717	D	0.96310	0.9228	10	0.59425	D	0.04	.	12.3585	0.55188	0.0:0.9187:0.0:0.0813	.	337;337;337;337;337;337	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	K	337	ENSP00000398962:E337K;ENSP00000398266:E337K;ENSP00000410257:E337K;ENSP00000388797:E337K;ENSP00000397915:E337K;ENSP00000416634:E337K;ENSP00000328968:E337K;ENSP00000399524:E337K;ENSP00000403355:E337K;ENSP00000413996:E337K	ENSP00000328968:E337K	E	-	1	0	SCN5A	38623295	0.998000	0.40836	0.956000	0.39512	0.220000	0.24768	3.920000	0.56446	2.462000	0.83206	0.557000	0.71058	GAG	SCN5A	-	pfam_Ion_trans_dom		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38648291	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	missense	SNP	0.998	T
SCNN1G	6340	genome.wustl.edu	37	16	23224211	23224211	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:23224211C>T	ENST00000300061.2	+	10	1570	c.1427C>T	c.(1426-1428)tCg>tTg	p.S476L	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	476					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.S476L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCTGTGGTTTCGGAGGTAAGT	0.577																																																	1	Substitution - Missense(1)	cervix(1)											75.0	68.0	70.0					16																	23224211		2197	4300	6497	SO:0001583	missense	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1427C>T	16.37:g.23224211C>T	ENSP00000300061:p.Ser476Leu		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.S476L	ENST00000300061.2	37	c.1427	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860763	0.71834	.	.	ENSG00000166828	ENST00000300061	T	0.64618	-0.11	4.88	4.88	0.63580	.	0.201146	0.35615	N	0.003083	T	0.76863	0.4047	M	0.70275	2.135	0.49687	D	0.999813	D	0.89917	1.0	D	0.69479	0.964	T	0.80118	-0.1516	10	0.87932	D	0	-22.7814	14.758	0.69583	0.0:1.0:0.0:0.0	.	476	P51170	SCNNG_HUMAN	L	476	ENSP00000300061:S476L	ENSP00000300061:S476L	S	+	2	0	SCNN1G	23131712	0.999000	0.42202	0.643000	0.29450	0.606000	0.37113	5.417000	0.66423	2.243000	0.73865	0.561000	0.74099	TCG	SCNN1G	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.577	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	C	NM_001039		23224211	+1	no_errors	ENST00000300061	ensembl	human	known	70_37	missense	SNP	0.968	T
SCRN2	90507	genome.wustl.edu	37	17	45918126	45918126	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:45918126G>A	ENST00000290216.9	-	2	209	c.84C>T	c.(82-84)atC>atT	p.I28I	SCRN2_ENST00000407215.3_Silent_p.I28I|SCRN2_ENST00000584123.1_Silent_p.I36I	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	28						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)	p.I28I(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TCTTGGCAAAGATCACAGCCG	0.662																																																	1	Substitution - coding silent(1)	cervix(1)											32.0	37.0	35.0					17																	45918126		2203	4300	6503	SO:0001819	synonymous_variant	90507			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.84C>T	17.37:g.45918126G>A			A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.I28	ENST00000290216.9	37	c.84	CCDS11519.1	17																																																																																			SCRN2	-	NULL		0.662	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	G	NM_138355		45918126	-1	no_errors	ENST00000290216	ensembl	human	known	70_37	silent	SNP	1.000	A
SDCBP	6386	genome.wustl.edu	37	8	59490703	59490703	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:59490703G>C	ENST00000260130.4	+	6	664	c.514G>C	c.(514-516)Gat>Cat	p.D172H	SDCBP_ENST00000447267.2_Missense_Mutation_p.D118H|SDCBP_ENST00000523483.1_Missense_Mutation_p.D192H|SDCBP_ENST00000447182.2_Missense_Mutation_p.D171H|SDCBP_ENST00000520168.1_Missense_Mutation_p.D113H|SDCBP_ENST00000424270.2_Missense_Mutation_p.D166H|SDCBP_ENST00000413219.2_Missense_Mutation_p.D172H|SDCBP_ENST00000422546.2_Missense_Mutation_p.D171H	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	172	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)	p.D172H(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGGAGCTCTGATAAAGCGCA	0.443																																																	1	Substitution - Missense(1)	cervix(1)											103.0	91.0	95.0					8																	59490703		2203	4300	6503	SO:0001583	missense	6386			AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.514G>C	8.37:g.59490703G>C	ENSP00000260130:p.Asp172His		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D172H	ENST00000260130.4	37	c.514	CCDS6172.1	8	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657037	0.88154	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.77	5.77	0.91146	PDZ/DHR/GLGF (4);	0.052828	0.64402	D	0.000001	T	0.62282	0.2415	M	0.81802	2.56	0.80722	D	1	B;D;D;P	0.64830	0.024;0.994;0.991;0.892	B;P;P;P	0.61275	0.074;0.876;0.886;0.83	T	0.61367	-0.7077	9	.	.	.	-14.3649	20.3626	0.98863	0.0:0.0:1.0:0.0	.	113;192;166;172	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	H	172;171;171;172;166;192;113;118	ENSP00000260130:D172H;ENSP00000391687:D171H;ENSP00000409288:D171H;ENSP00000411771:D172H;ENSP00000395351:D166H;ENSP00000428184:D192H;ENSP00000430730:D113H;ENSP00000397820:D118H	.	D	+	1	0	SDCBP	59653257	1.000000	0.71417	0.953000	0.39169	0.970000	0.65996	7.979000	0.88103	2.885000	0.99019	0.655000	0.94253	GAT	SDCBP	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.443	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCBP	HGNC	protein_coding	OTTHUMT00000378193.1	G	NM_005625		59490703	+1	no_errors	ENST00000260130	ensembl	human	known	70_37	missense	SNP	1.000	C
SDHAP1	255812	genome.wustl.edu	37	3	195692388	195692388	+	RNA	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:195692388G>C	ENST00000427841.1	-	0	2114					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GATGGGCTTGGAGTGATCGTA	0.493																																					Ovarian(67;1158 1227 12109 20189 43170)												0																																												255812			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195692388G>C				RNA	SNP	-	NULL	ENST00000427841.1	37	NULL		3																																																																																			SDHAP1	-	-		0.493	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	G			195692388	-1	no_errors	ENST00000354559	ensembl	human	known	70_37	rna	SNP	1.000	C
SDK2	54549	genome.wustl.edu	37	17	71431603	71431603	+	Missense_Mutation	SNP	T	T	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:71431603T>G	ENST00000392650.3	-	9	1181	c.1181A>C	c.(1180-1182)tAc>tCc	p.Y394S	SDK2_ENST00000388726.3_Missense_Mutation_p.Y394S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	394	Ig-like C2-type 4.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Y394S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GACAGCCAGGTAGGTGGAAGT	0.622																																																	1	Substitution - Missense(1)	cervix(1)											48.0	37.0	40.0					17																	71431603		2203	4298	6501	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1181A>C	17.37:g.71431603T>G	ENSP00000376421:p.Tyr394Ser		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Y394S	ENST00000392650.3	37	c.1181	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446775	0.63178	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.63580	-0.05;-0.05	4.75	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.069373	0.64402	D	0.000012	T	0.57695	0.2071	L	0.41906	1.305	0.58432	D	0.999999	P;B	0.44877	0.845;0.293	P;B	0.45449	0.481;0.371	T	0.55885	-0.8070	10	0.29301	T	0.29	.	14.2284	0.65875	0.0:0.0:0.0:1.0	.	394;394	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	S	18;394;394;394	ENSP00000376421:Y394S;ENSP00000373378:Y394S	ENSP00000324967:Y394S	Y	-	2	0	SDK2	68943198	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.385000	0.79763	1.760000	0.52011	0.402000	0.26972	TAC	SDK2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.622	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	T	NM_019064		71431603	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	missense	SNP	1.000	G
SDPR	8436	genome.wustl.edu	37	2	192701229	192701229	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:192701229C>G	ENST00000304141.4	-	2	1027	c.698G>C	c.(697-699)aGa>aCa	p.R233T		NM_004657.5	NP_004648.1			serum deprivation response									p.R233T(1)		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)			CAGGCTGGATCTTTTTATTTT	0.473																																																	1	Substitution - Missense(1)	cervix(1)											171.0	178.0	175.0					2																	192701229		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.698G>C	2.37:g.192701229C>G	ENSP00000305675:p.Arg233Thr			Missense_Mutation	SNP	NULL	p.R233T	ENST00000304141.4	37	c.698	CCDS2313.1	2	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801939	0.70682	.	.	ENSG00000168497	ENST00000304141	T	0.66815	-0.23	5.16	4.28	0.50868	.	0.056184	0.64402	D	0.000003	T	0.77525	0.4143	M	0.79693	2.465	0.50467	D	0.999874	D	0.55800	0.973	P	0.54270	0.747	T	0.81895	-0.0723	10	0.87932	D	0	-12.9759	14.1651	0.65471	0.0:0.9275:0.0:0.0725	.	233	O95810	SDPR_HUMAN	T	233	ENSP00000305675:R233T	ENSP00000305675:R233T	R	-	2	0	SDPR	192409474	1.000000	0.71417	0.997000	0.53966	0.516000	0.34256	4.497000	0.60367	1.404000	0.46819	0.563000	0.77884	AGA	SDPR	-	NULL		0.473	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	C	NM_004657		192701229	-1	no_errors	ENST00000304141	ensembl	human	known	70_37	missense	SNP	1.000	G
SEC14L5	9717	genome.wustl.edu	37	16	5058617	5058617	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:5058617C>G	ENST00000251170.7	+	14	1948	c.1768C>G	c.(1768-1770)Ccc>Gcc	p.P590A	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	590	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.P590A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGTGGAGGCTCCCCTTGTCTG	0.657																																																	1	Substitution - Missense(1)	cervix(1)											44.0	52.0	49.0					16																	5058617		1936	4131	6067	SO:0001583	missense	9717			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1768C>G	16.37:g.5058617C>G	ENSP00000251170:p.Pro590Ala			Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.P590A	ENST00000251170.7	37	c.1768	CCDS45403.1	16	.	.	.	.	.	.	.	.	.	.	c	9.654	1.142465	0.21205	.	.	ENSG00000103184	ENST00000251170	T	0.41065	1.01	4.75	3.8	0.43715	GOLD (2);	0.075907	0.53938	D	0.000046	T	0.39989	0.1099	M	0.62723	1.935	0.41551	D	0.988577	B	0.19706	0.038	B	0.15870	0.014	T	0.30592	-0.9973	10	0.36615	T	0.2	-1.5476	12.8023	0.57593	0.0:0.9211:0.0:0.0789	.	590	O43304	S14L5_HUMAN	A	590	ENSP00000251170:P590A	ENSP00000251170:P590A	P	+	1	0	SEC14L5	4998618	0.580000	0.26733	0.178000	0.23040	0.650000	0.38633	1.294000	0.33365	1.234000	0.43709	0.556000	0.70494	CCC	SEC14L5	-	superfamily_GOLD,pfscan_GOLD		0.657	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1	C			5058617	+1	no_errors	ENST00000251170	ensembl	human	known	70_37	missense	SNP	0.803	G
SEMA4A	64218	genome.wustl.edu	37	1	156126185	156126185	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:156126185C>G	ENST00000368285.3	+	3	406				SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368282.1_Intron|SEMA4A_ENST00000355014.2_Intron	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ATCACTCTCTCTGTCTTACTC	0.557																																																	0													102.0	83.0	90.0					1																	156126185		2203	4300	6503	SO:0001627	intron_variant	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.140-20C>G	1.37:g.156126185C>G			B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	RNA	SNP	-	NULL	ENST00000368285.3	37	NULL	CCDS1132.1	1																																																																																			SEMA4A	-	-		0.557	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	C	NM_022367		156126185	+1	no_errors	ENST00000470306	ensembl	human	known	70_37	rna	SNP	0.001	G
SEMA4A	64218	genome.wustl.edu	37	1	156131286	156131286	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:156131286C>G	ENST00000368285.3	+	9	1227	c.960C>G	c.(958-960)atC>atG	p.I320M	SEMA4A_ENST00000368286.2_Missense_Mutation_p.I188M|SEMA4A_ENST00000368284.1_Missense_Mutation_p.I188M|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.I320M|SEMA4A_ENST00000355014.2_Missense_Mutation_p.I320M	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	320	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1). {ECO:0000305}.	angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.I320M(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CTCCCCACATCTACGCAGTCT	0.672																																																	1	Substitution - Missense(1)	cervix(1)											52.0	48.0	49.0					1																	156131286		2203	4300	6503	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.960C>G	1.37:g.156131286C>G	ENSP00000357268:p.Ile320Met		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.I320M	ENST00000368285.3	37	c.960	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276952	0.59758	.	.	ENSG00000196189	ENST00000435124;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.42	4.51	0.55191	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.213643	0.39475	N	0.001360	T	0.24812	0.0602	M	0.61703	1.905	0.33938	D	0.642867	P;P	0.38617	0.64;0.64	B;P	0.47891	0.436;0.56	T	0.10683	-1.0619	10	0.66056	D	0.02	.	13.1937	0.59726	0.0:0.9218:0.0:0.0782	.	188;320	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	M	320;320;320;188;282;282;188;320	ENSP00000401391:I320M;ENSP00000347117:I320M;ENSP00000357268:I320M;ENSP00000357267:I188M;ENSP00000357269:I188M;ENSP00000357265:I320M	ENSP00000347117:I320M	I	+	3	3	SEMA4A	154397910	1.000000	0.71417	0.981000	0.43875	0.469000	0.32828	1.098000	0.31000	1.280000	0.44463	0.455000	0.32223	ATC	SEMA4A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.672	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	C	NM_022367		156131286	+1	no_errors	ENST00000355014	ensembl	human	known	70_37	missense	SNP	1.000	G
SELP	6403	genome.wustl.edu	37	1	169560702	169560702	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:169560702C>T	ENST00000263686.6	-	15	2445				SELP_ENST00000367786.2_Intron|SELP_ENST00000367793.2_Intron|SELP_ENST00000367792.2_Intron|SELP_ENST00000367788.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.?(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CATCTAAAATCAGCAAGAAGA	0.323																																																	1	Unknown(1)	cervix(1)											55.0	57.0	56.0					1																	169560702		2203	4299	6502	SO:0001627	intron_variant	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2408-8G>A	1.37:g.169560702C>T			Q5R344|Q8IVD1	RNA	SNP	-	NULL	ENST00000263686.6	37	NULL	CCDS1282.1	1																																																																																			SELP	-	-		0.323	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	C	NM_003005		169560702	-1	no_errors	ENST00000466167	ensembl	human	known	70_37	rna	SNP	0.173	T
SEZ6L2	26470	genome.wustl.edu	37	16	29883830	29883830	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:29883830G>T	ENST00000308713.5	-	15	3033	c.2506C>A	c.(2506-2508)Cca>Aca	p.P836T	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P735T|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P779T|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P805T	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	836					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)|plasma membrane (GO:0005886)		p.P779T(1)|p.P836S(1)|p.P836T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCGTGATGGATCTGTGGTC	0.632																																																	3	Substitution - Missense(3)	cervix(2)|large_intestine(1)											70.0	79.0	76.0					16																	29883830		2197	4300	6497	SO:0001583	missense	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2506C>A	16.37:g.29883830G>T	ENSP00000312550:p.Pro836Thr		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P836T	ENST00000308713.5	37	c.2506	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617715	0.46736	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.30714	1.55;1.67;1.52;1.52	5.26	4.3	0.51218	.	0.124368	0.36740	N	0.002429	T	0.45677	0.1354	L	0.44542	1.39	0.47659	D	0.999482	B;D;D;D;D;D	0.76494	0.178;0.988;0.988;0.998;0.97;0.999	B;P;P;D;P;D	0.67382	0.108;0.761;0.761;0.929;0.683;0.951	T	0.36089	-0.9762	10	0.45353	T	0.12	.	14.8027	0.69926	0.0:0.1454:0.8546:0.0	.	805;849;735;766;836;779	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	T	779;836;735;805	ENSP00000310206:P779T;ENSP00000312550:P836T;ENSP00000319215:P735T;ENSP00000439412:P805T	ENSP00000312550:P836T	P	-	1	0	SEZ6L2	29791331	1.000000	0.71417	0.970000	0.41538	0.917000	0.54804	2.642000	0.46596	1.212000	0.43366	0.655000	0.94253	CCA	SEZ6L2	-	NULL		0.632	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	G	NM_012410		29883830	-1	no_errors	ENST00000308713	ensembl	human	known	70_37	missense	SNP	0.998	T
SFI1	9814	genome.wustl.edu	37	22	32009453	32009453	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:32009453C>T	ENST00000400288.2	+	26	2784	c.2679C>T	c.(2677-2679)ctC>ctT	p.L893L	SFI1_ENST00000443326.1_Silent_p.L811L|SFI1_ENST00000443011.1_Silent_p.L740L|SFI1_ENST00000432498.1_Silent_p.L862L|SFI1_ENST00000400289.1_Silent_p.L811L|SFI1_ENST00000540643.1_Silent_p.L838L|SFI1_ENST00000414585.1_Silent_p.L740L	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	893					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)	p.L893L(1)		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						CCACGCGGCTCCTGCGCTTTG	0.687																																																	1	Substitution - coding silent(1)	cervix(1)											14.0	18.0	17.0					22																	32009453		2009	4171	6180	SO:0001819	synonymous_variant	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.2679C>T	22.37:g.32009453C>T			A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	superfamily_Cyclin-like	p.L893	ENST00000400288.2	37	c.2679	CCDS43004.1	22																																																																																			SFI1	-	NULL		0.687	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	C	NM_014775		32009453	+1	no_errors	ENST00000400288	ensembl	human	known	70_37	silent	SNP	0.982	T
SGK223	157285	genome.wustl.edu	37	8	8176255	8176255	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:8176255G>A	ENST00000520004.1	-	6	3894	c.3630C>T	c.(3628-3630)atC>atT	p.I1210I	SGK223_ENST00000330777.4_Silent_p.I1210I			Q86YV5	SG223_HUMAN		1214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.I1212I(1)|p.I1210I(1)									AAAAGTTGCTGATGATGAGCC	0.697																																					GBM(34;731 755 10259 33573 33867)												2	Substitution - coding silent(2)	cervix(2)											19.0	21.0	20.0					8																	8176255		1845	4079	5924	SO:0001819	synonymous_variant	157285																														ENST00000520004.1:c.3630C>T	8.37:g.8176255G>A			Q8N3N5	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,pfscan_Prot_kinase_cat_dom	p.I1210	ENST00000520004.1	37	c.3630	CCDS43706.1	8																																																																																			SGK223	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.697	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_genename	protein_coding	OTTHUMT00000374864.1	G			8176255	-1	no_errors	ENST00000330777	ensembl	human	known	70_37	silent	SNP	1.000	A
SGOL2	151246	genome.wustl.edu	37	2	201438514	201438514	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:201438514G>C	ENST00000357799.4	+	7	3543	c.3445G>C	c.(3445-3447)Gat>Cat	p.D1149H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1149					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.D1149H(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TAACATACAAGATTCTTCCTT	0.358																																																	1	Substitution - Missense(1)	cervix(1)											122.0	110.0	113.0					2																	201438514		1839	4088	5927	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3445G>C	2.37:g.201438514G>C	ENSP00000350447:p.Asp1149His		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.D1149H	ENST00000357799.4	37	c.3445	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745020	0.49151	.	.	ENSG00000163535	ENST00000357799	T	0.12774	2.65	5.52	2.11	0.27256	.	0.306925	0.27306	N	0.019968	T	0.20333	0.0489	L	0.51422	1.61	0.09310	N	0.999998	D;D;D	0.65815	0.98;0.98;0.995	P;P;P	0.60415	0.847;0.847;0.874	T	0.03662	-1.1015	10	0.72032	D	0.01	-3.7299	3.2761	0.06898	0.2567:0.0:0.5503:0.193	.	1149;1149;1149	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	H	1149	ENSP00000350447:D1149H	ENSP00000350447:D1149H	D	+	1	0	SGOL2	201146759	0.146000	0.22672	0.785000	0.31869	0.043000	0.13939	0.671000	0.25172	1.223000	0.43536	0.650000	0.86243	GAT	SGOL2	-	NULL		0.358	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	G	NM_152524		201438514	+1	no_errors	ENST00000357799	ensembl	human	known	70_37	missense	SNP	0.121	C
SHANK2	22941	genome.wustl.edu	37	11	70333107	70333107	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:70333107C>T	ENST00000423696.2	-	15	2190	c.2154G>A	c.(2152-2154)agG>agA	p.R718R	SHANK2_ENST00000449833.2_Silent_p.R502R|SHANK2_ENST00000409161.1_Silent_p.R501R|SHANK2_ENST00000338508.4_Silent_p.R1098R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	718					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.R502R(3)|p.R1098R(3)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGGGGAGTTCCTCCTGGCTT	0.716																																																	6	Substitution - coding silent(6)	lung(4)|cervix(2)											21.0	26.0	25.0					11																	70333107		2162	4237	6399	SO:0001819	synonymous_variant	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2154G>A	11.37:g.70333107C>T			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R1098	ENST00000423696.2	37	c.3294		11																																																																																			SHANK2	-	NULL		0.716	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		C	NM_012309		70333107	-1	no_errors	ENST00000338508	ensembl	human	known	70_37	silent	SNP	0.999	T
SHMT1	6470	genome.wustl.edu	37	17	18232688	18232688	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:18232688G>C	ENST00000316694.3	-	11	1320	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V	SHMT1_ENST00000354098.3_Missense_Mutation_p.L357V|SHMT1_ENST00000352886.6_Missense_Mutation_p.L316V|SHMT1_ENST00000539052.1_Missense_Mutation_p.L258V	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	396					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.L396V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CTGGGCCGCAGAGCGCTTCTG	0.512																																																	1	Substitution - Missense(1)	cervix(1)											37.0	38.0	38.0					17																	18232688		2203	4300	6503	SO:0001583	missense	6470				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1186C>G	17.37:g.18232688G>C	ENSP00000318868:p.Leu396Val		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase	p.L396V	ENST00000316694.3	37	c.1186	CCDS11196.1	17	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996845	0.35226	.	.	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.52983	0.64;1.49;0.64;1.49	5.52	3.14	0.36123	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.60845	1.875	0.58432	D	0.999998	P;B	0.36483	0.555;0.045	P;B	0.46275	0.51;0.126	T	0.53365	-0.8449	10	0.72032	D	0.01	-15.0407	7.3541	0.26709	0.3578:0.0:0.6422:0.0	.	357;396	P34896-2;P34896	.;GLYC_HUMAN	V	396;171;316;258;357	ENSP00000318868:L396V;ENSP00000345881:L316V;ENSP00000440089:L258V;ENSP00000318805:L357V	ENSP00000318868:L396V	L	-	1	2	SHMT1	18173413	0.985000	0.35326	0.770000	0.31555	0.761000	0.43186	1.976000	0.40579	1.443000	0.47586	0.655000	0.94253	CTG	SHMT1	-	pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase		0.512	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT1	HGNC	protein_coding	OTTHUMT00000130831.2	G	NM_004169		18232688	-1	no_errors	ENST00000316694	ensembl	human	known	70_37	missense	SNP	0.531	C
SHROOM3	57619	genome.wustl.edu	37	4	77677800	77677800	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:77677800G>A	ENST00000296043.6	+	8	5861	c.4908G>A	c.(4906-4908)caG>caA	p.Q1636Q	RP11-359D14.3_ENST00000449007.1_RNA|RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1636					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.Q1635Q(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CACCCATCCAGACTCAAAGCC	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											82.0	87.0	85.0					4																	77677800		2203	4300	6503	SO:0001819	synonymous_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4908G>A	4.37:g.77677800G>A			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q1636	ENST00000296043.6	37	c.4908	CCDS3579.2	4																																																																																			SHROOM3	-	NULL		0.522	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	G	NM_020859		77677800	+1	no_errors	ENST00000296043	ensembl	human	known	70_37	silent	SNP	0.000	A
SIGIRR	59307	genome.wustl.edu	37	11	406528	406528	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:406528G>A	ENST00000431843.2	-	9	1196	c.890C>T	c.(889-891)tCc>tTc	p.S297F	SIGIRR_ENST00000531205.1_Missense_Mutation_p.S297F|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000332725.3_Missense_Mutation_p.S297F|SIGIRR_ENST00000382520.2_Missense_Mutation_p.S297F|SIGIRR_ENST00000397632.3_Missense_Mutation_p.S297F	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	297	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S297F(1)		cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAAAAATCGGAGGAAGGAGT	0.657																																																	1	Substitution - Missense(1)	cervix(1)											28.0	35.0	33.0					11																	406528		2198	4289	6487	SO:0001583	missense	59307				CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.890C>T	11.37:g.406528G>A	ENSP00000403104:p.Ser297Phe		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.S297F	ENST00000431843.2	37	c.890	CCDS31325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.29|19.29	3.798646|3.798646	0.70567|0.70567	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000526395|ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520	.|T;T;T;T;T	.|0.09350	.|2.99;2.99;2.99;2.99;2.99	3.01|3.01	3.01|3.01	0.34805|0.34805	.|Toll/interleukin-1 receptor homology (TIR) domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33702|0.33702	0.0872|0.0872	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.36648|0.36648	-0.9739|-0.9739	5|10	.|0.87932	.|D	.|0	.|.	14.0888|14.0888	0.64975|0.64975	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|297;297	.|C9JFX4;Q6IA17	.|.;SIGIR_HUMAN	S|F	29|297	.|ENSP00000403104:S297F;ENSP00000380756:S297F;ENSP00000333656:S297F;ENSP00000433022:S297F;ENSP00000371960:S297F	.|ENSP00000333656:S297F	P|S	-|-	1|2	0|0	SIGIRR|SIGIRR	396528|396528	1.000000|1.000000	0.71417|0.71417	0.650000|0.650000	0.29550|0.29550	0.642000|0.642000	0.38348|0.38348	8.618000|8.618000	0.90932|0.90932	1.702000|1.702000	0.51228|0.51228	0.491000|0.491000	0.48974|0.48974	CCG|TCC	SIGIRR	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.657	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIGIRR	HGNC	protein_coding	OTTHUMT00000383884.3	G	NM_021805		406528	-1	no_errors	ENST00000382520	ensembl	human	known	70_37	missense	SNP	0.998	A
SIGIRR	59307	genome.wustl.edu	37	11	408113	408113	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:408113G>C	ENST00000431843.2	-	4	606	c.300C>G	c.(298-300)atC>atG	p.I100M	SIGIRR_ENST00000531205.1_Missense_Mutation_p.I100M|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000332725.3_Missense_Mutation_p.I100M|SIGIRR_ENST00000382520.2_Missense_Mutation_p.I100M|SIGIRR_ENST00000397632.3_Missense_Mutation_p.I100M	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	100	Ig-like C2-type.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.I100M(2)		cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGATGTTCTGGATGGAGCAGG	0.587																																																	2	Substitution - Missense(2)	urinary_tract(1)|cervix(1)											125.0	116.0	119.0					11																	408113		2202	4300	6502	SO:0001583	missense	59307				CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.300C>G	11.37:g.408113G>C	ENSP00000403104:p.Ile100Met		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1	p.I100M	ENST00000431843.2	37	c.300	CCDS31325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.648|8.648	0.897525|0.897525	0.17686|0.17686	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520|ENST00000528209	T;T;T;T;T|T	0.70516|0.22134	-0.49;-0.49;-0.49;-0.49;-0.49|1.97	3.0|3.0	3.0|3.0	0.34707|0.34707	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.463545|.	0.21489|.	N|.	0.073702|.	T|T	0.29783|0.29783	0.0744|0.0744	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	P;P|.	0.51351|.	0.944;0.61|.	P;B|.	0.46479|.	0.518;0.233|.	T|T	0.11817|0.11817	-1.0572|-1.0572	10|7	0.52906|0.87932	T|D	0.07|0	.|.	12.2696|12.2696	0.54697|0.54697	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	100;100|.	C9JFX4;Q6IA17|.	.;SIGIR_HUMAN|.	M|C	100|8	ENSP00000403104:I100M;ENSP00000380756:I100M;ENSP00000333656:I100M;ENSP00000433022:I100M;ENSP00000371960:I100M|ENSP00000435135:S8C	ENSP00000333656:I100M|ENSP00000435135:S8C	I|S	-|-	3|2	3|0	SIGIRR|SIGIRR	398113|398113	0.057000|0.057000	0.20700|0.20700	0.010000|0.010000	0.14722|0.14722	0.123000|0.123000	0.20343|0.20343	1.398000|1.398000	0.34554|0.34554	1.988000|1.988000	0.58038|0.58038	0.305000|0.305000	0.20034|0.20034	ATC|TCC	SIGIRR	-	pfscan_Ig-like		0.587	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIGIRR	HGNC	protein_coding	OTTHUMT00000383884.3	G	NM_021805		408113	-1	no_errors	ENST00000382520	ensembl	human	known	70_37	missense	SNP	0.003	C
SIGLEC1	6614	genome.wustl.edu	37	20	3686628	3686628	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:3686628C>T	ENST00000344754.4	-	3	468	c.469G>A	c.(469-471)Gac>Aac	p.D157N	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D157N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	157	Ig-like C2-type 1.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.D157N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CAGTTGAAGTCCACCTCTGTG	0.612																																																	1	Substitution - Missense(1)	cervix(1)											89.0	85.0	87.0					20																	3686628		2203	4300	6503	SO:0001583	missense	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.469G>A	20.37:g.3686628C>T	ENSP00000341141:p.Asp157Asn		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D157N	ENST00000344754.4	37	c.469	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	C	7.041	0.562537	0.13498	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.75477	-0.94;-0.94	5.21	-1.5	0.08691	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.836499	0.10070	N	0.719806	T	0.50905	0.1643	N	0.17674	0.51	0.09310	N	1	B;B;B	0.15141	0.012;0.007;0.006	B;B;B	0.16289	0.013;0.015;0.009	T	0.30060	-0.9991	10	0.13108	T	0.6	.	4.3499	0.11150	0.1774:0.2089:0.0:0.6137	.	157;157;157	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	N	157	ENSP00000341141:D157N;ENSP00000202578:D157N	ENSP00000202578:D157N	D	-	1	0	SIGLEC1	3634628	0.001000	0.12720	0.127000	0.21898	0.715000	0.41141	0.075000	0.14686	-0.104000	0.12154	0.462000	0.41574	GAC	SIGLEC1	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	C	NM_023068		3686628	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	missense	SNP	0.016	T
SIK2	23235	genome.wustl.edu	37	11	111591721	111591721	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:111591721G>A	ENST00000304987.3	+	12	2052	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	627					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E627K(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AATAGGACCGGAGGCAGACCC	0.517																																																	1	Substitution - Missense(1)	cervix(1)											81.0	86.0	84.0					11																	111591721		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1879G>A	11.37:g.111591721G>A	ENSP00000305976:p.Glu627Lys		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E627K	ENST00000304987.3	37	c.1879	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929187	0.73327	.	.	ENSG00000170145	ENST00000304987	T	0.73152	-0.72	6.17	5.25	0.73442	.	0.317810	0.37761	N	0.001947	T	0.64494	0.2603	L	0.50333	1.59	0.34177	D	0.670444	B	0.17038	0.02	B	0.15870	0.014	T	0.66626	-0.5876	10	0.16420	T	0.52	.	15.7024	0.77552	0.0666:0.0:0.9334:0.0	.	627	Q9H0K1	SIK2_HUMAN	K	627	ENSP00000305976:E627K	ENSP00000305976:E627K	E	+	1	0	SIK2	111096931	1.000000	0.71417	0.446000	0.26920	0.391000	0.30476	3.732000	0.55021	1.596000	0.50062	0.655000	0.94253	GAG	SIK2	-	pirsf_Ser/Thr_kinase_SIK1/2		0.517	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	G	NM_015191		111591721	+1	no_errors	ENST00000304987	ensembl	human	known	70_37	missense	SNP	0.986	A
SIN3A	25942	genome.wustl.edu	37	15	75692404	75692404	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:75692404G>C	ENST00000394947.3	-	12	2145	c.1831C>G	c.(1831-1833)Cgt>Ggt	p.R611G	SIN3A_ENST00000394949.4_Missense_Mutation_p.R611G|SIN3A_ENST00000360439.4_Missense_Mutation_p.R611G	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.R611G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCTTCACAACGATAAATATGT	0.438																																																	1	Substitution - Missense(1)	cervix(1)											150.0	143.0	145.0					15																	75692404		2197	4294	6491	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1831C>G	15.37:g.75692404G>C	ENSP00000378402:p.Arg611Gly			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.R611G	ENST00000394947.3	37	c.1831	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966092	0.74131	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.56103	0.48;0.48;0.48	6.08	5.11	0.69529	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	T	0.79311	0.4424	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84062	0.0375	10	0.87932	D	0	-12.9996	13.8698	0.63612	0.0:0.0:0.7942:0.2058	.	611	Q96ST3	SIN3A_HUMAN	G	611	ENSP00000378402:R611G;ENSP00000378403:R611G;ENSP00000353622:R611G	ENSP00000353622:R611G	R	-	1	0	SIN3A	73479457	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.549000	0.45803	2.894000	0.99253	0.591000	0.81541	CGT	SIN3A	-	pfam_HDAC_interact,smart_HDAC_interact		0.438	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	G	NM_015477		75692404	-1	no_errors	ENST00000360439	ensembl	human	known	70_37	missense	SNP	1.000	C
SIPA1	6494	genome.wustl.edu	37	11	65417036	65417036	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:65417036C>G	ENST00000394224.3	+	11	2826	c.2530C>G	c.(2530-2532)Ctg>Gtg	p.L844V	SIPA1_ENST00000394227.3_Missense_Mutation_p.L742V|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000527525.1_Missense_Mutation_p.L742V|SIPA1_ENST00000534313.1_Missense_Mutation_p.L844V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	844					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)	p.L844V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCCCAGCTCTCTGTCGGATGA	0.642																																																	1	Substitution - Missense(1)	cervix(1)											71.0	74.0	73.0					11																	65417036		2201	4297	6498	SO:0001583	missense	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.2530C>G	11.37:g.65417036C>G	ENSP00000377771:p.Leu844Val		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.L844V	ENST00000394224.3	37	c.2530	CCDS8108.1	11	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523281	0.44866	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.38	3.45	0.39498	.	1.896250	0.03238	U	0.179987	T	0.75049	0.3797	N	0.24115	0.695	0.24015	N	0.99617	B;B	0.18741	0.03;0.018	B;B	0.21917	0.037;0.025	T	0.57470	-0.7806	10	0.17369	T	0.5	-8.3876	10.0958	0.42475	0.1999:0.8001:0.0:0.0	.	742;844	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	844;742;844;742	ENSP00000436269:L844V;ENSP00000433686:L742V;ENSP00000377771:L844V;ENSP00000377774:L742V	ENSP00000377771:L844V	L	+	1	2	SIPA1	65173612	1.000000	0.71417	0.999000	0.59377	0.756000	0.42949	1.786000	0.38694	0.930000	0.37217	0.462000	0.41574	CTG	SIPA1	-	NULL		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	C	NM_006747		65417036	+1	no_errors	ENST00000394224	ensembl	human	known	70_37	missense	SNP	0.999	G
SIPA1L1	26037	genome.wustl.edu	37	14	72055659	72055659	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:72055659G>C	ENST00000555818.1	+	2	1418	c.1070G>C	c.(1069-1071)aGa>aCa	p.R357T	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R357T|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R357T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	357					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R357T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATTAAGAGGAGAAACACCACC	0.483																																																	1	Substitution - Missense(1)	cervix(1)											65.0	68.0	67.0					14																	72055659		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1070G>C	14.37:g.72055659G>C	ENSP00000450832:p.Arg357Thr		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.R357T	ENST00000555818.1	37	c.1070	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568871	0.28003	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	D;D;D	0.81659	-1.51;-1.51;-1.52	6.07	6.07	0.98685	.	0.043798	0.85682	D	0.000000	T	0.78679	0.4321	L	0.52011	1.625	0.80722	D	1	P;B;B	0.40144	0.704;0.336;0.118	B;B;B	0.41723	0.365;0.333;0.073	T	0.80446	-0.1379	10	0.87932	D	0	-28.3999	13.8057	0.63230	0.0695:0.0:0.9305:0.0	.	357;357;357	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	T	357	ENSP00000370630:R357T;ENSP00000450832:R357T;ENSP00000351352:R357T	ENSP00000351352:R357T	R	+	2	0	SIPA1L1	71125412	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	5.291000	0.65667	2.885000	0.99019	0.655000	0.94253	AGA	SIPA1L1	-	NULL		0.483	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	G	NM_015556		72055659	+1	no_errors	ENST00000555818	ensembl	human	known	70_37	missense	SNP	1.000	C
SIRPA	140885	genome.wustl.edu	37	20	1902277	1902277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:1902277C>T	ENST00000358771.4	+	3	825	c.673C>T	c.(673-675)Caa>Taa	p.Q225*	SIRPA_ENST00000356025.3_Nonsense_Mutation_p.Q225*|SIRPA_ENST00000400068.3_Nonsense_Mutation_p.Q225*	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	225	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q225*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CGTTCACTCTCAAGTCATCTG	0.602																																					GBM(155;1668 1920 5945 42733 48121)												1	Substitution - Nonsense(1)	cervix(1)											70.0	62.0	65.0					20																	1902277		2203	4296	6499	SO:0001587	stop_gained	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.673C>T	20.37:g.1902277C>T	ENSP00000351621:p.Gln225*		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Nonsense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.Q225*	ENST00000358771.4	37	c.673	CCDS13022.1	20	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194626	0.78902	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	.	.	.	4.86	1.57	0.23409	.	0.476928	0.19393	N	0.115355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	10.479	0.44682	0.5122:0.4878:0.0:0.0	.	.	.	.	X	225	.	ENSP00000348307:Q225X	Q	+	1	0	SIRPA	1850277	0.216000	0.23585	0.599000	0.28851	0.668000	0.39293	0.322000	0.19576	0.736000	0.32559	0.650000	0.86243	CAA	SIRPA	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like		0.602	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	HGNC	protein_coding	OTTHUMT00000077568.2	C	NM_080792		1902277	+1	no_errors	ENST00000400068	ensembl	human	known	70_37	nonsense	SNP	0.437	T
SLC11A2	4891	genome.wustl.edu	37	12	51394105	51394105	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:51394105G>C	ENST00000262051.7	-	6	614	c.527C>G	c.(526-528)tCt>tGt	p.S176C	SLC11A2_ENST00000541174.2_Missense_Mutation_p.S176C|SLC11A2_ENST00000547688.1_Missense_Mutation_p.S205C|SLC11A2_ENST00000545993.2_Missense_Mutation_p.S172C|SLC11A2_ENST00000262052.5_Missense_Mutation_p.S176C|SLC11A2_ENST00000547198.1_Missense_Mutation_p.S176C|SLC11A2_ENST00000394904.3_Missense_Mutation_p.S205C|SLC11A2_ENST00000546743.1_Missense_Mutation_p.S97C	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	176					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.S176C(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCTTCCTACAGACAGAAGATT	0.428																																																	1	Substitution - Missense(1)	cervix(1)											105.0	98.0	100.0					12																	51394105		2203	4300	6503	SO:0001583	missense	4891			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.527C>G	12.37:g.51394105G>C	ENSP00000262051:p.Ser176Cys		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp	p.S205C	ENST00000262051.7	37	c.614	CCDS53792.1	12	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448927	0.84101	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743;ENST00000546488;ENST00000547579;ENST00000550714;ENST00000547732	T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.931	D;D;D;D;D;P	0.87578	0.998;0.997;0.998;0.998;0.998;0.695	D	0.87488	0.2425	10	0.87932	D	0	-24.493	15.7666	0.78131	0.0:0.1366:0.8634:0.0	.	139;172;205;176;25;176	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	C	176;176;176;205;205;176;172;97;94;97;129;97	ENSP00000262051:S176C;ENSP00000446769:S176C;ENSP00000262052:S176C;ENSP00000378364:S205C;ENSP00000449200:S205C;ENSP00000444542:S176C;ENSP00000442810:S172C;ENSP00000446914:S97C;ENSP00000450389:S94C;ENSP00000447482:S97C;ENSP00000446984:S129C;ENSP00000447102:S97C	ENSP00000262051:S176C	S	-	2	0	SLC11A2	49680372	1.000000	0.71417	0.994000	0.49952	0.930000	0.56654	7.491000	0.81471	2.941000	0.99782	0.655000	0.94253	TCT	SLC11A2	-	pfam_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp		0.428	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC11A2	HGNC	protein_coding	OTTHUMT00000404383.1	G			51394105	-1	no_errors	ENST00000394904	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC12A3	6559	genome.wustl.edu	37	16	56918016	56918016	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:56918016C>T	ENST00000563236.1	+	14	1750	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	SLC12A3_ENST00000566786.1_Silent_p.I574I|SLC12A3_ENST00000438926.2_Silent_p.I575I|SLC12A3_ENST00000262502.5_Silent_p.I574I			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	575					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.I575I(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTGGGGCTATCATCTCCGTGG	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											201.0	160.0	174.0					16																	56918016		2198	4300	6498	SO:0001819	synonymous_variant	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1725C>T	16.37:g.56918016C>T			A8MSJ2|C9JNN9	Silent	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.I575	ENST00000563236.1	37	c.1725	CCDS58464.1	16																																																																																			SLC12A3	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.587	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	C			56918016	+1	no_errors	ENST00000438926	ensembl	human	known	70_37	silent	SNP	0.019	T
SLC12A6	9990	genome.wustl.edu	37	15	34553159	34553159	+	Missense_Mutation	SNP	C	C	T	rs199747285		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:34553159C>T	ENST00000354181.3	-	4	871	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E112K|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E118K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E76K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	127					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.E118K(1)|p.E76K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCAAAATATTCATCTCCTTCT	0.333																																																	2	Substitution - Missense(2)	cervix(2)											65.0	71.0	69.0					15																	34553159		2201	4298	6499	SO:0001583	missense	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.379G>A	15.37:g.34553159C>T	ENSP00000346112:p.Glu127Lys		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.E118K	ENST00000354181.3	37	c.352	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103382	0.56291	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	4.87	4.87	0.63330	.	0.205869	0.41500	D	0.000869	T	0.72581	0.3478	N	0.19112	0.55	0.80722	D	1	B;P;B	0.37548	0.058;0.599;0.071	B;B;B	0.38327	0.098;0.271;0.065	T	0.71069	-0.4699	10	0.23302	T	0.38	.	15.0441	0.71813	0.0:1.0:0.0:0.0	.	112;127;76	Q9UHW9-3;Q9UHW9;A0AV76	.;S12A6_HUMAN;.	K	76;112;118;68;68	ENSP00000290209:E76K;ENSP00000380819:E112K;ENSP00000380814:E68K;ENSP00000387725:E68K	ENSP00000290209:E76K	E	-	1	0	SLC12A6	32340451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.199000	0.51043	2.530000	0.85305	0.563000	0.77884	GAA	SLC12A6	-	tigrfam_Na/K/Cl_cotransptS		0.333	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	C	NM_005135		34553159	-1	no_errors	ENST00000558589	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC16A14	151473	genome.wustl.edu	37	2	230910660	230910660	+	Silent	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:230910660G>T	ENST00000295190.4	-	4	1640	c.1182C>A	c.(1180-1182)ctC>ctA	p.L394L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	394						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.L394L(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TAAAAATACTGAGGACAAGGG	0.488																																																	1	Substitution - coding silent(1)	cervix(1)											105.0	89.0	94.0					2																	230910660		2203	4300	6503	SO:0001819	synonymous_variant	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1182C>A	2.37:g.230910660G>T			A8KA08|Q53R92|Q96NI7	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L394	ENST00000295190.4	37	c.1182	CCDS2473.1	2																																																																																			SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.488	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	G	NM_152527		230910660	-1	no_errors	ENST00000295190	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC17A1	6568	genome.wustl.edu	37	6	25826704	25826704	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:25826704G>A	ENST00000244527.4	-	3	307	c.192C>T	c.(190-192)ctC>ctT	p.L64L	SLC17A1_ENST00000476801.1_Silent_p.L64L|SLC17A1_ENST00000468082.1_Silent_p.L64L|SLC17A1_ENST00000427328.1_Silent_p.L64L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	64					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.L64L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TATTATCCAGGAGCTTCTTTG	0.393																																																	1	Substitution - coding silent(1)	cervix(1)											182.0	170.0	174.0					6																	25826704		2203	4300	6503	SO:0001819	synonymous_variant	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.192C>T	6.37:g.25826704G>A			A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt	p.L64	ENST00000244527.4	37	c.192	CCDS4565.1	6																																																																																			SLC17A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt		0.393	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A1	HGNC	protein_coding	OTTHUMT00000043647.2	G			25826704	-1	no_errors	ENST00000244527	ensembl	human	known	70_37	silent	SNP	0.000	A
SLC20A1	6574	genome.wustl.edu	37	2	113416402	113416402	+	Splice_Site	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:113416402G>A	ENST00000272542.3	+	7	1318	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	260					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.R260Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TTTTTCCTAGGAGAAATAAAG	0.388																																																	1	Substitution - Missense(1)	cervix(1)											53.0	64.0	60.0					2																	113416402		2202	4299	6501	SO:0001630	splice_region_variant	6574				CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.779-1G>A	2.37:g.113416402G>A			Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	pfam_Phos_transporter	p.R260Q	ENST00000272542.3	37	c.779	CCDS2099.1	2	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655728	0.29425	.	.	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.90504	-2.68	5.9	5.9	0.94986	.	0.193943	0.46442	D	0.000288	D	0.88962	0.6580	L	0.46157	1.445	0.58432	D	0.999994	B;B	0.19200	0.034;0.034	B;B	0.25759	0.063;0.063	D	0.84650	0.0700	10	0.56958	D	0.05	.	17.776	0.88508	0.0:0.0:1.0:0.0	.	260;260	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	Q	260;72	ENSP00000272542:R260Q	ENSP00000272542:R260Q	R	+	2	0	SLC20A1	113132873	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.028000	0.70889	2.806000	0.96561	0.655000	0.94253	CGA	SLC20A1	-	pfam_Phos_transporter		0.388	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A1	HGNC	protein_coding	OTTHUMT00000254086.2	G	NM_005415	Missense_Mutation	113416402	+1	no_errors	ENST00000272542	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC22A17	51310	genome.wustl.edu	37	14	23821025	23821025	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:23821025C>G	ENST00000206544.8	-	2	643	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	SLC22A17_ENST00000397260.3_Intron|SLC22A17_ENST00000397267.1_Missense_Mutation_p.E103Q|SLC22A17_ENST00000354772.3_Missense_Mutation_p.E103Q|SLC22A17_ENST00000474057.1_Intron	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	103				E -> G (in Ref. 1; ABG45942). {ECO:0000305}.	ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)	p.E103Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGATCTGCTCCAGGATCACC	0.657																																																	1	Substitution - Missense(1)	cervix(1)											73.0	60.0	65.0					14																	23821025		2203	4300	6503	SO:0001583	missense	51310			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.307G>C	14.37:g.23821025C>G	ENSP00000206544:p.Glu103Gln		A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E103Q	ENST00000206544.8	37	c.307	CCDS9593.1	14	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613999	0.66672	.	.	ENSG00000092096	ENST00000354772;ENST00000206544;ENST00000397267	T;T;T	0.58506	0.33;0.33;0.33	3.67	3.67	0.42095	Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000005	T	0.64136	0.2571	L	0.33245	0.995	0.46298	D	0.998971	D;P;D	0.76494	0.999;0.884;0.986	D;P;P	0.75484	0.986;0.54;0.771	T	0.62872	-0.6762	10	0.33940	T	0.23	-8.3591	14.3005	0.66346	0.0:1.0:0.0:0.0	.	103;103;103	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	Q	103	ENSP00000346824:E103Q;ENSP00000206544:E103Q;ENSP00000380437:E103Q	ENSP00000206544:E103Q	E	-	1	0	SLC22A17	22890865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.053000	0.41326	1.867000	0.54127	0.462000	0.41574	GAG	SLC22A17	-	pfam_MFS,pfscan_MFS_dom		0.657	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC22A17	HGNC	protein_coding	OTTHUMT00000157223.3	C	NM_020372		23821025	-1	no_errors	ENST00000206544	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC22A9	114571	genome.wustl.edu	37	11	63138626	63138626	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:63138626C>T	ENST00000279178.3	+	2	671	c.422C>T	c.(421-423)tCt>tTt	p.S141F	SLC22A9_ENST00000310969.4_Missense_Mutation_p.S141F	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	141					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.S141F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GTATGTGACTCTCAATCACTG	0.443																																																	1	Substitution - Missense(1)	cervix(1)											164.0	150.0	155.0					11																	63138626		2201	4298	6499	SO:0001583	missense	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.422C>T	11.37:g.63138626C>T	ENSP00000279178:p.Ser141Phe		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S141F	ENST00000279178.3	37	c.422	CCDS8043.1	11	.	.	.	.	.	.	.	.	.	.	C	6.372	0.436677	0.12104	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.79845	-1.31;-0.26	3.28	-0.0783	0.13715	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.729672	0.12760	N	0.441402	T	0.68118	0.2966	L	0.47190	1.495	0.09310	N	1	B	0.20459	0.045	B	0.29598	0.104	T	0.50136	-0.8863	10	0.12103	T	0.63	.	2.9049	0.05718	0.3121:0.4438:0.0:0.2441	.	141	Q8IVM8	S22A9_HUMAN	F	141	ENSP00000311527:S141F;ENSP00000279178:S141F	ENSP00000279178:S141F	S	+	2	0	SLC22A9	62895202	0.000000	0.05858	0.684000	0.30055	0.622000	0.37654	-0.977000	0.03782	0.247000	0.21414	0.134000	0.15878	TCT	SLC22A9	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.443	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	HGNC	protein_coding	OTTHUMT00000396371.1	C	NM_080866		63138626	+1	no_errors	ENST00000279178	ensembl	human	known	70_37	missense	SNP	0.022	T
SLC25A42	284439	genome.wustl.edu	37	19	19221592	19221592	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:19221592G>C	ENST00000318596.7	+	8	1015	c.864G>C	c.(862-864)ttG>ttC	p.L288F		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	288					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)	p.L288F(1)		cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ACAAAGGCTTGAGCATGAACT	0.682																																																	1	Substitution - Missense(1)	cervix(1)											52.0	41.0	45.0					19																	19221592		2203	4300	6503	SO:0001583	missense	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.864G>C	19.37:g.19221592G>C	ENSP00000326693:p.Leu288Phe		D2T2J5|O14553|O43378	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.L288F	ENST00000318596.7	37	c.864	CCDS32966.1	19	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798887	0.70567	.	.	ENSG00000181035	ENST00000318596	T	0.79845	-1.31	4.92	2.73	0.32206	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84274	0.0490	10	0.87932	D	0	-10.5379	4.2996	0.10918	0.084:0.2834:0.4871:0.1455	.	288	Q86VD7	S2542_HUMAN	F	288	ENSP00000326693:L288F	ENSP00000326693:L288F	L	+	3	2	SLC25A42	19082592	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.867000	0.27968	1.058000	0.40530	0.555000	0.69702	TTG	SLC25A42	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC		0.682	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A42	HGNC	protein_coding	OTTHUMT00000465931.1	G	NM_178526		19221592	+1	no_errors	ENST00000318596	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC26A3	1811	genome.wustl.edu	37	7	107434305	107434305	+	Silent	SNP	C	C	T	rs386833456		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:107434305C>T	ENST00000340010.5	-	3	337	c.153G>A	c.(151-153)aaG>aaA	p.K51K	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	51					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.K51K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GGACAATTCTCTTGGCCTTTT	0.423																																																	1	Substitution - coding silent(1)	cervix(1)											98.0	92.0	94.0					7																	107434305		2203	4300	6503	SO:0001819	synonymous_variant	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.153G>A	7.37:g.107434305C>T				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.K51	ENST00000340010.5	37	c.153	CCDS5748.1	7																																																																																			SLC26A3	-	NULL		0.423	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	C	NM_000111		107434305	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	silent	SNP	0.991	T
SLC26A6	65010	genome.wustl.edu	37	3	48667573	48667573	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:48667573G>A	ENST00000395550.2	-	12	1391	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000337000.8_Silent_p.I341I|SLC26A6_ENST00000383733.3_Silent_p.I448I|SLC26A6_ENST00000420764.2_Silent_p.I448I|SLC26A6_ENST00000455886.2_Silent_p.I412I|SLC26A6_ENST00000358747.6_Silent_p.I427I			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	448					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.I448I(1)	SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCACAATGATGATGGCTGCCA	0.632																																					NSCLC(13;369 479 28271 30152 44026)												1	Substitution - coding silent(1)	cervix(1)											57.0	63.0	61.0					3																	48667573		2111	4230	6341	SO:0001819	synonymous_variant	65010			AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1344C>T	3.37:g.48667573G>A			B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I448	ENST00000395550.2	37	c.1344	CCDS43087.1	3																																																																																			SLC26A6	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.632	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC26A6	HGNC	protein_coding	OTTHUMT00000345040.1	G	NM_022911		48667573	-1	no_errors	ENST00000395550	ensembl	human	known	70_37	silent	SNP	0.008	A
SLC26A8	116369	genome.wustl.edu	37	6	35928783	35928783	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:35928783C>T	ENST00000490799.1	-	13	1908	c.1555G>A	c.(1555-1557)Gtt>Att	p.V519I	SLC26A8_ENST00000355574.2_Missense_Mutation_p.V519I|SLC26A8_ENST00000394602.2_Missense_Mutation_p.V414I	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.V519I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGTGAACGAACAGTGGTGATG	0.423																																																	1	Substitution - Missense(1)	cervix(1)											142.0	125.0	131.0					6																	35928783		2203	4300	6503	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1555G>A	6.37:g.35928783C>T	ENSP00000417638:p.Val519Ile			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.V519I	ENST00000490799.1	37	c.1555	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815690	0.32145	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94828	-3.18;-3.53;-3.18	5.94	3.14	0.36123	.	0.295281	0.29266	N	0.012652	T	0.78597	0.4308	L	0.28054	0.825	0.18873	N	0.999983	P;B;B	0.35192	0.489;0.216;0.347	B;B;B	0.32465	0.068;0.122;0.146	T	0.69383	-0.5160	10	0.20046	T	0.44	.	8.7315	0.34503	0.0:0.6376:0.2846:0.0778	.	519;414;101	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	I	519;414;519	ENSP00000417638:V519I;ENSP00000378100:V414I;ENSP00000347778:V519I	ENSP00000347778:V519I	V	-	1	0	SLC26A8	36036761	0.106000	0.21978	0.066000	0.19879	0.826000	0.46750	0.306000	0.19279	0.379000	0.24794	0.650000	0.86243	GTT	SLC26A8	-	NULL		0.423	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	C			35928783	-1	no_errors	ENST00000355574	ensembl	human	known	70_37	missense	SNP	0.499	T
SLC29A4	222962	genome.wustl.edu	37	7	5331358	5331358	+	Silent	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:5331358C>A	ENST00000396872.3	+	5	611	c.450C>A	c.(448-450)atC>atA	p.I150I	SLC29A4_ENST00000297195.4_Silent_p.I150I|SLC29A4_ENST00000406453.3_Intron			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	150					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.I150I(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TCCTTTTTATCAGCATCTGCG	0.637																																																	1	Substitution - coding silent(1)	cervix(1)											70.0	67.0	68.0					7																	5331358		2203	4300	6503	SO:0001819	synonymous_variant	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.450C>A	7.37:g.5331358C>A			Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.I150	ENST00000396872.3	37	c.450	CCDS5340.1	7																																																																																			SLC29A4	-	superfamily_MFS_dom_general_subst_transpt		0.637	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	C	NM_153247		5331358	+1	no_errors	ENST00000297195	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC2A3	6515	genome.wustl.edu	37	12	8085688	8085688	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:8085688G>C	ENST00000075120.7	-	3	404	c.164C>G	c.(163-165)tCt>tGt	p.S55C		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	55					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.S55C(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAGCACCTCAGAGGGTGGGGC	0.478											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(96;424 1461 14416 20933 23688)												1	Substitution - Missense(1)	cervix(1)											112.0	102.0	106.0					12																	8085688		2203	4300	6503	SO:0001583	missense	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.164C>G	12.37:g.8085688G>C	ENSP00000075120:p.Ser55Cys	646	B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.S55C	ENST00000075120.7	37	c.164	CCDS8586.1	12	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802474	0.50315	.	.	ENSG00000059804	ENST00000075120;ENST00000544291	T;D	0.87103	-0.96;-2.21	4.17	-0.162	0.13367	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.637474	0.16192	N	0.225348	D	0.89441	0.6716	M	0.68728	2.09	0.09310	N	1	D	0.53745	0.962	P	0.58577	0.841	T	0.82045	-0.0652	10	0.66056	D	0.02	.	9.813	0.40835	0.0:0.537:0.3351:0.1279	.	55	P11169	GTR3_HUMAN	C	55;24	ENSP00000075120:S55C;ENSP00000440750:S24C	ENSP00000075120:S55C	S	-	2	0	SLC2A3	7976955	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	1.306000	0.33505	-0.146000	0.11274	0.462000	0.41574	TCT	SLC2A3	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.478	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A3	HGNC	protein_coding	OTTHUMT00000257914.1	G	NM_006931		8085688	-1	no_errors	ENST00000075120	ensembl	human	known	70_37	missense	SNP	0.000	C
SLC2A6	11182	genome.wustl.edu	37	9	136340663	136340663	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:136340663G>C	ENST00000371899.4	-	5	710	c.633C>G	c.(631-633)ctC>ctG	p.L211L	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.L211L	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	211					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.L211L(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCATGAAGCTGAGCAGCAGGA	0.716																																																	1	Substitution - coding silent(1)	cervix(1)											20.0	21.0	20.0					9																	136340663		2198	4295	6493	SO:0001819	synonymous_variant	11182			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.633C>G	9.37:g.136340663G>C			A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.L211	ENST00000371899.4	37	c.633	CCDS6975.1	9																																																																																			SLC2A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.716	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1	G	NM_017585		136340663	-1	no_errors	ENST00000371899	ensembl	human	known	70_37	silent	SNP	0.998	C
SLC34A1	6569	genome.wustl.edu	37	5	176824804	176824804	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:176824804C>G	ENST00000324417.5	+	13	1528	c.1437C>G	c.(1435-1437)ttC>ttG	p.F479L	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	479					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)	p.F479L(1)		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)			GTCACTTCTTCTTCAACATCT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											104.0	90.0	95.0					5																	176824804		2203	4300	6503	SO:0001583	missense	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.1437C>G	5.37:g.176824804C>G	ENSP00000321424:p.Phe479Leu		B4DPE3	Missense_Mutation	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.F479L	ENST00000324417.5	37	c.1437	CCDS4418.1	5	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424248	0.62733	.	.	ENSG00000131183	ENST00000324417	D	0.83992	-1.79	5.38	3.26	0.37387	.	0.107851	0.64402	D	0.000005	T	0.77438	0.4130	L	0.28344	0.845	0.40810	D	0.983417	B	0.27498	0.18	B	0.38225	0.268	T	0.77133	-0.2700	10	0.54805	T	0.06	-3.5868	12.7294	0.57189	0.0:0.8428:0.0:0.1572	.	479	Q06495	NPT2A_HUMAN	L	479	ENSP00000321424:F479L	ENSP00000321424:F479L	F	+	3	2	SLC34A1	176757410	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.506000	0.45433	1.262000	0.44165	0.484000	0.47621	TTC	SLC34A1	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.617	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	C	NM_003052		176824804	+1	no_errors	ENST00000324417	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC35C2	51006	genome.wustl.edu	37	20	44980847	44980847	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:44980847G>C	ENST00000372227.1	-	8	1220	c.680C>G	c.(679-681)tCt>tGt	p.S227C	SLC35C2_ENST00000543605.1_Missense_Mutation_p.S256C|SLC35C2_ENST00000243896.2_Missense_Mutation_p.S227C|SLC35C2_ENST00000317734.8_Missense_Mutation_p.S206C|SLC35C2_ENST00000372230.5_Missense_Mutation_p.S227C|SLC35C2_ENST00000372229.1_Missense_Mutation_p.S94C|SLC35C2_ENST00000493599.1_5'UTR	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	227					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S227C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GATTTTCTCAGATGTGGACAA	0.572																																																	1	Substitution - Missense(1)	cervix(1)											77.0	82.0	80.0					20																	44980847		2203	4300	6503	SO:0001583	missense	51006				CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.680C>G	20.37:g.44980847G>C	ENSP00000361301:p.Ser227Cys		B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	pfam_DUF250,pfam_UAA	p.S256C	ENST00000372227.1	37	c.767	CCDS13396.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.578250|4.578250	0.86645|0.86645	.|.	.|.	ENSG00000080189|ENSG00000080189	ENST00000420518|ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372229;ENST00000372230;ENST00000372225;ENST00000543605	.|T;T;T;T;T;T	.|0.65178	.|-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.93|4.93	4.93|4.93	0.64822|0.64822	.|Domain of unknown function DUF250 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80665|0.80665	0.4666|0.4666	M|M	0.83774|0.83774	2.66|2.66	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.998;1.0	.|D;D;D;D	.|0.77004	.|0.957;0.989;0.951;0.979	T|T	0.82343|0.82343	-0.0504|-0.0504	6|10	0.87932|0.51188	D|T	0|0.08	-8.0513|-8.0513	17.3887|17.3887	0.87424|0.87424	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|256;92;206;227	.|F5H4T9;B7Z6R4;Q9NQQ7-2;Q9NQQ7	.|.;.;.;S35C2_HUMAN	V|C	182|206;227;227;94;227;95;256	.|ENSP00000318960:S206C;ENSP00000243896:S227C;ENSP00000361301:S227C;ENSP00000361303:S94C;ENSP00000361304:S227C;ENSP00000439974:S256C	ENSP00000397142:L182V|ENSP00000243896:S227C	L|S	-|-	1|2	2|0	SLC35C2|SLC35C2	44414254|44414254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.401000|9.401000	0.97294|0.97294	2.561000|2.561000	0.86390|0.86390	0.650000|0.650000	0.86243|0.86243	CTG|TCT	SLC35C2	-	pfam_DUF250,pfam_UAA		0.572	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC35C2	HGNC	protein_coding	OTTHUMT00000080363.1	G	NM_015945		44980847	-1	no_errors	ENST00000543605	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC38A2	54407	genome.wustl.edu	37	12	46754939	46754939	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:46754939C>G	ENST00000256689.5	-	16	1920	c.1476G>C	c.(1474-1476)ttG>ttC	p.L492F	SLC38A2_ENST00000551374.1_Missense_Mutation_p.L330F	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	492					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.L492F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CCAAAACAATCAAGGCCATGC	0.428																																					Ovarian(9;448 492 8335 28722 40361)												1	Substitution - Missense(1)	cervix(1)											105.0	89.0	95.0					12																	46754939		2203	4299	6502	SO:0001583	missense	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1476G>C	12.37:g.46754939C>G	ENSP00000256689:p.Leu492Phe		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.L492F	ENST00000256689.5	37	c.1476	CCDS8749.1	12	.	.	.	.	.	.	.	.	.	.	C	4.349	0.064207	0.08388	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02158	4.42;4.42	6.05	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	L	0.46741	1.465	0.58432	D	0.999999	B;D;D	0.89917	0.076;1.0;1.0	B;D;D	0.83275	0.108;0.996;0.994	T	0.48198	-0.9056	10	0.21540	T	0.41	-14.3857	16.9553	0.86257	0.0:0.8623:0.1377:0.0	.	330;392;492	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	F	492;330	ENSP00000256689:L492F;ENSP00000450406:L330F	ENSP00000256689:L492F	L	-	3	2	SLC38A2	45041206	1.000000	0.71417	0.997000	0.53966	0.702000	0.40608	1.746000	0.38288	1.529000	0.49120	0.650000	0.86243	TTG	SLC38A2	-	pfam_AA_transpt_TM		0.428	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	HGNC	protein_coding	OTTHUMT00000404226.1	C			46754939	-1	no_errors	ENST00000256689	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC35E3	55508	genome.wustl.edu	37	12	69145963	69145963	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:69145963C>T	ENST00000398004.2	+	3	937	c.665C>T	c.(664-666)tCt>tTt	p.S222F	SLC35E3_ENST00000538043.1_3'UTR	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	222						integral component of membrane (GO:0016021)		p.S222F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGGTCAGTTTCTGCTTTGGTA	0.393																																																	1	Substitution - Missense(1)	cervix(1)											206.0	189.0	194.0					12																	69145963		1894	4131	6025	SO:0001583	missense	55508			AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"""Solute carriers"""	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.665C>T	12.37:g.69145963C>T	ENSP00000381089:p.Ser222Phe		A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	pfam_DUF250,pfam_DMT	p.S222F	ENST00000398004.2	37	c.665	CCDS41808.1	12	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096009	0.56075	.	.	ENSG00000175782	ENST00000398004;ENST00000431174	T;T	0.62941	-0.01;2.27	5.59	5.59	0.84812	Domain of unknown function DUF250 (1);	0.277324	0.42294	D	0.000737	T	0.71896	0.3394	M	0.73372	2.23	0.51233	D	0.999912	P	0.36222	0.544	P	0.45753	0.492	T	0.68345	-0.5433	9	.	.	.	-13.0568	19.9688	0.97277	0.0:1.0:0.0:0.0	.	222	Q7Z769	S35E3_HUMAN	F	222;32	ENSP00000381089:S222F;ENSP00000403769:S32F	.	S	+	2	0	SLC35E3	67432230	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.567000	0.60850	2.809000	0.96659	0.555000	0.69702	TCT	SLC35E3	-	pfam_DUF250,pfam_DMT		0.393	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E3	HGNC	protein_coding	OTTHUMT00000403241.1	C	NM_018656		69145963	+1	no_errors	ENST00000398004	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC38A3	10991	genome.wustl.edu	37	3	50252126	50252126	+	RNA	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:50252126C>T	ENST00000420502.1	+	0	378									solute carrier family 38, member 3									p.L75L(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		TGTTCAACCTCAGCAATGCCA	0.562																																																	1	Substitution - coding silent(1)	cervix(1)											64.0	61.0	62.0					3																	50252126		2203	4300	6503			10991			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50252126C>T				RNA	SNP	-	NULL	ENST00000420502.1	37	NULL		3																																																																																			SLC38A3	-	-		0.562	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	SLC38A3	HGNC	processed_transcript	OTTHUMT00000345635.2	C	NM_006841		50252126	+1	no_errors	ENST00000414604	ensembl	human	known	70_37	rna	SNP	1.000	T
SLC40A1	30061	genome.wustl.edu	37	2	190445311	190445311	+	5'UTR	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:190445311C>T	ENST00000261024.2	-	0	302				SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1						anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CAGCCTTGGGCAAAAAGACTA	0.463																																																	0																																										SO:0001623	5_prime_UTR_variant	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.-125G>A	2.37:g.190445311C>T			Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	RNA	SNP	-	NULL	ENST00000261024.2	37	NULL	CCDS2299.1	2																																																																																			SLC40A1	-	-		0.463	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC40A1	HGNC	protein_coding	OTTHUMT00000255916.2	C			190445311	-1	no_errors	ENST00000418714	ensembl	human	known	70_37	rna	SNP	0.005	T
SLC44A1	23446	genome.wustl.edu	37	9	108061569	108061569	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:108061569C>T	ENST00000374720.3	+	2	352	c.105C>T	c.(103-105)ttC>ttT	p.F35F	SLC44A1_ENST00000374724.1_Silent_p.F35F|SLC44A1_ENST00000374723.1_Silent_p.F35F|SLC44A1_ENST00000607692.1_3'UTR	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	35					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.F35F(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGCTGCTCTTCATCCTCTTCT	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											150.0	118.0	129.0					9																	108061569		2203	4300	6503	SO:0001819	synonymous_variant	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.105C>T	9.37:g.108061569C>T			A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Silent	SNP	pfam_Choline_transptr-like	p.F35	ENST00000374720.3	37	c.105	CCDS6763.1	9																																																																																			SLC44A1	-	NULL		0.458	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	HGNC	protein_coding	OTTHUMT00000053500.1	C	NM_080546		108061569	+1	no_errors	ENST00000374720	ensembl	human	known	70_37	silent	SNP	0.976	T
SLC46A3	283537	genome.wustl.edu	37	13	29286975	29286975	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:29286975G>C	ENST00000266943.6	-	3	1271	c.902C>G	c.(901-903)tCa>tGa	p.S301*	SLC46A3_ENST00000380814.4_Nonsense_Mutation_p.S301*	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	301					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S301*(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ACCCAAAGCTGATCCATAACC	0.348																																																	2	Substitution - Nonsense(2)	cervix(2)											94.0	93.0	93.0					13																	29286975		2203	4300	6503	SO:0001587	stop_gained	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.902C>G	13.37:g.29286975G>C	ENSP00000266943:p.Ser301*		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S301*	ENST00000266943.6	37	c.902	CCDS9332.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.507231	0.97624	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	.	.	.	5.63	5.63	0.86233	.	0.411457	0.25130	N	0.032908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-8.5985	20.0572	0.97657	0.0:0.0:1.0:0.0	.	.	.	.	X	301	.	ENSP00000266943:S301X	S	-	2	0	SLC46A3	28184975	1.000000	0.71417	0.187000	0.23214	0.290000	0.27261	7.074000	0.76791	2.826000	0.97356	0.655000	0.94253	TCA	SLC46A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.348	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	G	NM_181785		29286975	-1	no_errors	ENST00000266943	ensembl	human	known	70_37	nonsense	SNP	0.599	C
SLC4A1AP	22950	genome.wustl.edu	37	2	27886730	27886730	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:27886730G>C	ENST00000326019.6	+	1	393	c.111G>C	c.(109-111)aaG>aaC	p.K37N	SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000337768.5_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	37						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K37N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGAACGTAAAGACCGAAGGGT	0.577																																																	1	Substitution - Missense(1)	cervix(1)											131.0	123.0	126.0					2																	27886730		2203	4300	6503	SO:0001583	missense	22950				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.111G>C	2.37:g.27886730G>C	ENSP00000323837:p.Lys37Asn		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.K37N	ENST00000326019.6	37	c.111	CCDS33166.1	2	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416448	0.25552	.	.	ENSG00000163798	ENST00000326019	T	0.30714	1.52	4.08	2.15	0.27550	.	.	.	.	.	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.12156	0.007	T	0.24870	-1.0148	9	0.24483	T	0.36	.	5.065	0.14578	0.292:0.0:0.708:0.0	.	37	Q9BWU0	NADAP_HUMAN	N	37	ENSP00000323837:K37N	ENSP00000323837:K37N	K	+	3	2	SLC4A1AP	27740234	0.000000	0.05858	0.001000	0.08648	0.147000	0.21601	0.366000	0.20365	0.979000	0.38497	0.555000	0.69702	AAG	SLC4A1AP	-	NULL		0.577	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1AP	HGNC	protein_coding	OTTHUMT00000324550.1	G	NM_018158		27886730	+1	no_errors	ENST00000326019	ensembl	human	known	70_37	missense	SNP	0.001	C
SLC4A3	6508	genome.wustl.edu	37	2	220498102	220498102	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:220498102G>C	ENST00000358055.3	+	10	1896	c.1384G>C	c.(1384-1386)Gat>Cat	p.D462H	SLC4A3_ENST00000273063.6_Missense_Mutation_p.D489H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.D489H|SLC4A3_ENST00000317151.3_Missense_Mutation_p.D462H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.D462H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	462					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.D489H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATGGCCCTGATGGGGCGGT	0.602																																																	1	Substitution - Missense(1)	cervix(1)											68.0	63.0	65.0					2																	220498102		2203	4300	6503	SO:0001583	missense	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1384G>C	2.37:g.220498102G>C	ENSP00000350756:p.Asp462His		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.D489H	ENST00000358055.3	37	c.1465	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493457	0.64186	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.88	4.88	0.63580	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.405053	0.24991	N	0.034000	T	0.48132	0.1483	N	0.13168	0.305	0.52099	D	0.999944	B;B	0.24576	0.06;0.106	B;B	0.25405	0.06;0.052	T	0.41610	-0.9499	10	0.17832	T	0.49	.	13.4311	0.61055	0.0:0.0:1.0:0.0	.	462;489	P48751;P48751-3	B3A3_HUMAN;.	H	462;462;489;489;462	ENSP00000350756:D462H;ENSP00000362865:D462H;ENSP00000273063:D489H;ENSP00000362867:D489H;ENSP00000314006:D462H	ENSP00000273063:D489H	D	+	1	0	SLC4A3	220206346	0.994000	0.37717	0.972000	0.41901	0.688000	0.40055	3.980000	0.56895	2.538000	0.85594	0.643000	0.83706	GAT	SLC4A3	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_Anion_exchange_3,tigrfam_HCO3_transpt_euk		0.602	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	G	NM_005070		220498102	+1	no_errors	ENST00000273063	ensembl	human	known	70_37	missense	SNP	0.987	C
SLC5A5	6528	genome.wustl.edu	37	19	18001725	18001725	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:18001725G>A	ENST00000222248.3	+	14	2029	c.1682G>A	c.(1681-1683)gGa>gAa	p.G561E		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	561					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.G561E(2)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGGCCCCGGGATTGTTGTGG	0.602																																					Melanoma(65;1008 1708 7910 46650)												2	Substitution - Missense(2)	cervix(1)|biliary_tract(1)											105.0	107.0	107.0					19																	18001725		2203	4300	6503	SO:0001583	missense	6528				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1682G>A	19.37:g.18001725G>A	ENSP00000222248:p.Gly561Glu		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.G561E	ENST00000222248.3	37	c.1682	CCDS12368.1	19	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180624	0.38511	.	.	ENSG00000105641	ENST00000222248	D	0.84660	-1.88	4.71	4.71	0.59529	.	0.108730	0.64402	D	0.000010	T	0.78375	0.4273	L	0.49640	1.575	0.51482	D	0.999922	B	0.33345	0.409	B	0.30646	0.118	T	0.74780	-0.3549	10	0.06365	T	0.9	.	15.1801	0.72947	0.0:0.0:1.0:0.0	.	561	Q92911	SC5A5_HUMAN	E	561	ENSP00000222248:G561E	ENSP00000222248:G561E	G	+	2	0	SLC5A5	17862725	1.000000	0.71417	0.649000	0.29536	0.210000	0.24377	5.732000	0.68563	2.457000	0.83068	0.491000	0.48974	GGA	SLC5A5	-	NULL		0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1	G			18001725	+1	no_errors	ENST00000222248	ensembl	human	known	70_37	missense	SNP	0.978	A
SLC6A5	9152	genome.wustl.edu	37	11	20676574	20676574	+	3'UTR	SNP	C	C	G	rs149535690		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:20676574C>G	ENST00000525748.1	+	0	2827				SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5						glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGCATAGTGTCGCATGCTGCA	0.468																																																	0																																										SO:0001624	3_prime_UTR_variant	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.*160C>G	11.37:g.20676574C>G			O95288|Q4VAM7|Q9BX77	RNA	SNP	-	NULL	ENST00000525748.1	37	NULL	CCDS7854.1	11																																																																																			SLC6A5	-	-		0.468	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	C	NM_004211		20676574	+1	no_errors	ENST00000528440	ensembl	human	known	70_37	rna	SNP	0.831	G
SLC9A1	6548	genome.wustl.edu	37	1	27440753	27440753	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:27440753G>C	ENST00000263980.3	-	2	952	c.377C>G	c.(376-378)tCa>tGa	p.S126*	SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Nonsense_Mutation_p.S126*	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	126					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.S126*(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GACGATGCTTGAGATAGTGGG	0.637																																																	2	Substitution - Nonsense(2)	cervix(1)|kidney(1)											40.0	41.0	41.0					1																	27440753		2203	4299	6502	SO:0001587	stop_gained	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.377C>G	1.37:g.27440753G>C	ENSP00000263980:p.Ser126*		B1ALD6|D3DPL4|Q96EM2	Nonsense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S126*	ENST00000263980.3	37	c.377	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.336982	0.98767	.	.	ENSG00000090020	ENST00000263980;ENST00000374086	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.0453	0.93018	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000263980:S126X	S	-	2	0	SLC9A1	27313340	1.000000	0.71417	0.980000	0.43619	0.977000	0.68977	9.823000	0.99369	2.751000	0.94390	0.655000	0.94253	TCA	SLC9A1	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.637	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	G	NM_003047		27440753	-1	no_errors	ENST00000263980	ensembl	human	known	70_37	nonsense	SNP	1.000	C
SLC9A4	389015	genome.wustl.edu	37	2	103149013	103149013	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:103149013G>T	ENST00000295269.4	+	12	2720	c.2263G>T	c.(2263-2265)Gat>Tat	p.D755Y		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	755					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.D755Y(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCATGCAGTGGATGAGGAGGG	0.537																																																	1	Substitution - Missense(1)	cervix(1)											96.0	61.0	73.0					2																	103149013		2203	4300	6503	SO:0001583	missense	389015				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2263G>T	2.37:g.103149013G>T	ENSP00000295269:p.Asp755Tyr		Q69YK0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.D755Y	ENST00000295269.4	37	c.2263	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830912	0.32329	.	.	ENSG00000180251	ENST00000295269	T	0.53423	0.62	5.31	2.46	0.29980	.	0.266108	0.34603	N	0.003834	T	0.31358	0.0794	L	0.32530	0.975	0.09310	N	1	P	0.44090	0.826	B	0.41723	0.365	T	0.23226	-1.0194	10	0.56958	D	0.05	.	2.1832	0.03879	0.1714:0.1551:0.5134:0.1601	.	755	Q6AI14	SL9A4_HUMAN	Y	755	ENSP00000295269:D755Y	ENSP00000295269:D755Y	D	+	1	0	SLC9A4	102515445	0.003000	0.15002	0.014000	0.15608	0.297000	0.27493	0.016000	0.13377	0.291000	0.22468	0.655000	0.94253	GAT	SLC9A4	-	NULL		0.537	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	G	NM_001011552.3		103149013	+1	no_errors	ENST00000295269	ensembl	human	known	70_37	missense	SNP	0.040	T
SLC9A7	84679	genome.wustl.edu	37	X	46522066	46522066	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:46522066G>A	ENST00000328306.4	-	6	831	c.806C>T	c.(805-807)gCg>gTg	p.A269V		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	269					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.A269V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						ATTAAATATCGCCAGCACAGT	0.398																																					Pancreas(118;454 1696 1930 13865 39976)												1	Substitution - Missense(1)	cervix(1)											88.0	68.0	75.0					X																	46522066		2203	4300	6503	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.806C>T	X.37:g.46522066G>A	ENSP00000330320:p.Ala269Val		O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A269V	ENST00000328306.4	37	c.806	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.203073	0.95033	.	.	ENSG00000065923	ENST00000328306	T	0.18338	2.22	5.09	5.09	0.68999	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59521	-0.7439	10	0.87932	D	0	.	17.8859	0.88854	0.0:0.0:1.0:0.0	.	40;269	B3KPP8;Q96T83	.;SL9A7_HUMAN	V	269	ENSP00000330320:A269V	ENSP00000330320:A269V	A	-	2	0	SLC9A7	46407010	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	9.287000	0.95975	2.244000	0.73946	0.600000	0.82982	GCG	SLC9A7	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.398	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	G	NM_032591		46522066	-1	no_errors	ENST00000328306	ensembl	human	known	70_37	missense	SNP	1.000	A
SLCO1C1	53919	genome.wustl.edu	37	12	20854329	20854329	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:20854329G>C	ENST00000266509.2	+	3	575	c.207G>C	c.(205-207)caG>caC	p.Q69H	SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.Q69H|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.Q69H|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.Q69H	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	69					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Q69H(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCATCACTCAGATAGAGAGAA	0.408																																																	1	Substitution - Missense(1)	cervix(1)											231.0	183.0	199.0					12																	20854329		2203	4300	6503	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.207G>C	12.37:g.20854329G>C	ENSP00000266509:p.Gln69His		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.Q69H	ENST00000266509.2	37	c.207	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104849	0.56291	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.09	2.04	0.26737	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.85859	2.78	0.42758	D	0.993794	D;D;P	0.59357	0.985;0.985;0.93	D;D;P	0.67382	0.951;0.951;0.893	T	0.63139	-0.6704	10	0.59425	D	0.04	.	8.3177	0.32111	0.408:0.0:0.592:0.0	.	69;69;69	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	H	69	ENSP00000444149:Q69H;ENSP00000438665:Q69H;ENSP00000266509:Q69H;ENSP00000370964:Q69H	ENSP00000266509:Q69H	Q	+	3	2	SLCO1C1	20745596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.027000	0.41078	0.639000	0.30564	0.655000	0.94253	CAG	SLCO1C1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.408	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	G	NM_017435		20854329	+1	no_errors	ENST00000381552	ensembl	human	known	70_37	missense	SNP	1.000	C
SLCO2A1	6578	genome.wustl.edu	37	3	133654649	133654649	+	Missense_Mutation	SNP	C	C	T	rs150503809		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:133654649C>T	ENST00000310926.4	-	13	2056	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A519T	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	595					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.A595T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TCATAGTAGGCGCAGGCCCCT	0.597																																																	1	Substitution - Missense(1)	cervix(1)						C	THR/ALA	0,4406		0,0,2203	75.0	64.0	68.0		1783	-0.9	0.0	3	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLCO2A1	NM_005630.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	595/644	133654649	1,13005	2203	4300	6503	SO:0001583	missense	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1783G>A	3.37:g.133654649C>T	ENSP00000311291:p.Ala595Thr		Q86V98|Q8IUN2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.A595T	ENST00000310926.4	37	c.1783	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	C	5.252	0.231905	0.09969	0.0	1.16E-4	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.39229	1.09;1.09	5.4	-0.858	0.10689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.678279	0.16058	N	0.231621	T	0.27731	0.0682	L	0.58669	1.825	0.09310	N	1	B;P	0.43519	0.039;0.809	B;B	0.37601	0.005;0.254	T	0.17077	-1.0381	10	0.22109	T	0.4	.	2.4187	0.04442	0.121:0.3202:0.1183:0.4405	.	519;595	E7EU40;Q92959	.;SO2A1_HUMAN	T	595;519	ENSP00000311291:A595T;ENSP00000418893:A519T	ENSP00000311291:A595T	A	-	1	0	SLCO2A1	135137339	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.149000	0.10204	-0.369000	0.08028	0.561000	0.74099	GCC	SLCO2A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.597	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	C	NM_005630		133654649	-1	no_errors	ENST00000310926	ensembl	human	known	70_37	missense	SNP	0.000	T
SLCO3A1	28232	genome.wustl.edu	37	15	92459366	92459366	+	Silent	SNP	G	G	C	rs370591300		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:92459366G>C	ENST00000318445.6	+	2	538	c.324G>C	c.(322-324)ctG>ctC	p.L108L	SLCO3A1_ENST00000424469.2_Silent_p.L108L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	108					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L108L(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GGCCGCGCCTGATCGGCTGCG	0.682																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											21.0	18.0	19.0					15																	92459366		2075	4073	6148	SO:0001819	synonymous_variant	28232			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.324G>C	15.37:g.92459366G>C			A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.L108	ENST00000318445.6	37	c.324	CCDS10371.1	15																																																																																			SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.682	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	G	NM_013272		92459366	+1	no_errors	ENST00000318445	ensembl	human	known	70_37	silent	SNP	1.000	C
SLFN5	162394	genome.wustl.edu	37	17	33586072	33586072	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:33586072G>C	ENST00000299977.4	+	2	511	c.363G>C	c.(361-363)gaG>gaC	p.E121D	SLFN5_ENST00000542451.1_Missense_Mutation_p.E121D|SLFN5_ENST00000592325.1_Missense_Mutation_p.E121D	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	121					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.E121D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACCACAGAGAGAGAACATCCA	0.428																																																	1	Substitution - Missense(1)	cervix(1)											111.0	110.0	110.0					17																	33586072		2203	4300	6503	SO:0001583	missense	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.363G>C	17.37:g.33586072G>C	ENSP00000299977:p.Glu121Asp		Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.E121D	ENST00000299977.4	37	c.363	CCDS32619.1	17	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.220145	0.01542	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.06294	4.59;3.32	3.76	0.0745	0.14395	.	2.741300	0.01589	N	0.021455	T	0.02230	0.0069	N	0.00841	-1.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38045	-0.9679	10	0.20046	T	0.44	.	4.9044	0.13791	0.0:0.1342:0.4671:0.3986	.	121;121;121	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	D	121	ENSP00000299977:E121D;ENSP00000440537:E121D	ENSP00000299977:E121D	E	+	3	2	SLFN5	30610185	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.084000	0.14891	-0.091000	0.12440	0.655000	0.94253	GAG	SLFN5	-	NULL		0.428	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	G	NM_144975		33586072	+1	no_errors	ENST00000299977	ensembl	human	known	70_37	missense	SNP	0.000	C
SLITRK1	114798	genome.wustl.edu	37	13	84454215	84454215	+	Silent	SNP	G	G	T	rs142639256		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:84454215G>T	ENST00000377084.2	-	1	2313	c.1428C>A	c.(1426-1428)ctC>ctA	p.L476L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	476					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.L476L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTGAGAATGAGGATCCTCA	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											68.0	64.0	65.0					13																	84454215		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1428C>A	13.37:g.84454215G>T			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L476	ENST00000377084.2	37	c.1428	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454215	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	T
SMARCAD1	56916	genome.wustl.edu	37	4	95174009	95174009	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:95174009G>A	ENST00000354268.4	+	9	1205	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E378K|SMARCAD1_ENST00000509418.1_5'Flank			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	378					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E378K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TAGTAGTGGTGAAGAAGTGAT	0.353																																																	1	Substitution - Missense(1)	cervix(1)											94.0	91.0	92.0					4																	95174009		2203	4300	6503	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1132G>A	4.37:g.95174009G>A	ENSP00000346217:p.Glu378Lys		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E378K	ENST00000354268.4	37	c.1132	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771950	0.49680	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268	D;D;D	0.88046	-2.33;-2.33;-2.33	5.58	5.58	0.84498	.	0.124595	0.36101	N	0.002797	D	0.83252	0.5214	L	0.43152	1.355	0.80722	D	1	B;B	0.21225	0.031;0.053	B;B	0.18561	0.01;0.022	T	0.77970	-0.2387	10	0.14656	T	0.56	-25.8018	19.5837	0.95482	0.0:0.0:1.0:0.0	.	378;378	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	K	378	ENSP00000351947:E378K;ENSP00000415576:E378K;ENSP00000346217:E378K	ENSP00000346217:E378K	E	+	1	0	SMARCAD1	95393032	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.676000	0.61627	2.630000	0.89119	0.655000	0.94253	GAA	SMARCAD1	-	NULL		0.353	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	G	NM_020159		95174009	+1	no_errors	ENST00000359052	ensembl	human	known	70_37	missense	SNP	1.000	A
SMC1A	8243	genome.wustl.edu	37	X	53407550	53407550	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:53407550G>C	ENST00000322213.4	-	24	3736	c.3609C>G	c.(3607-3609)gtC>gtG	p.V1203V	SMC1A_ENST00000469129.1_5'Flank	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1203					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)	p.V1203V(1)		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						CCTCAGGATAGACTCCAATGA	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											65.0	56.0	59.0					X																	53407550		2203	4300	6503	SO:0001819	synonymous_variant	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.3609C>G	X.37:g.53407550G>C			O14995|Q16351|Q2M228	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.V1203	ENST00000322213.4	37	c.3609	CCDS14352.1	X																																																																																			SMC1A	-	pfam_RecF/RecN/SMC		0.567	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	G	NM_006306		53407550	-1	no_errors	ENST00000322213	ensembl	human	known	70_37	silent	SNP	1.000	C
SMCP	4184	genome.wustl.edu	37	1	152857023	152857023	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:152857023G>A	ENST00000368765.3	+	2	275	c.125G>A	c.(124-126)tGc>tAc	p.C42Y		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	42	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.C42Y(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAACCAGTGCTGCCAGCCA	0.537																																																	1	Substitution - Missense(1)	cervix(1)											146.0	131.0	136.0					1																	152857023		2203	4300	6503	SO:0001583	missense	4184			BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"""mitochondrial capsule selenoprotein"""	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.125G>A	1.37:g.152857023G>A	ENSP00000357754:p.Cys42Tyr		Q96A42	Missense_Mutation	SNP	NULL	p.C42Y	ENST00000368765.3	37	c.125	CCDS1029.1	1	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085719	0.20390	.	.	ENSG00000163206	ENST00000368765	T	0.60548	0.18	3.76	2.83	0.33086	.	.	.	.	.	T	0.46328	0.1387	L	0.43923	1.385	0.09310	N	1	D	0.58620	0.983	P	0.55999	0.789	T	0.23084	-1.0198	9	0.54805	T	0.06	2.3045	9.2986	0.37831	0.0:0.2199:0.7801:0.0	.	42	P49901	MCSP_HUMAN	Y	42	ENSP00000357754:C42Y	ENSP00000357754:C42Y	C	+	2	0	SMCP	151123647	0.001000	0.12720	0.052000	0.19188	0.004000	0.04260	0.634000	0.24614	1.144000	0.42321	0.655000	0.94253	TGC	SMCP	-	NULL		0.537	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCP	HGNC	protein_coding	OTTHUMT00000034665.1	G	NM_030663		152857023	+1	no_errors	ENST00000368765	ensembl	human	known	70_37	missense	SNP	0.052	A
SMEK1	55671	genome.wustl.edu	37	14	91931636	91931636	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:91931636C>T	ENST00000554943.1	-	11	1903	c.1788G>A	c.(1786-1788)ctG>ctA	p.L596L	SMEK1_ENST00000428424.2_Silent_p.L357L|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Silent_p.L357L|SMEK1_ENST00000554684.1_Silent_p.L583L|SMEK1_ENST00000337238.4_Silent_p.L583L			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	596					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.L596L(1)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CAGAGTTCATCAGATTGTAGC	0.294																																																	1	Substitution - coding silent(1)	cervix(1)											93.0	96.0	95.0					14																	91931636		2203	4300	6503	SO:0001819	synonymous_variant	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1788G>A	14.37:g.91931636C>T			Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Silent	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.L596	ENST00000554943.1	37	c.1788		14																																																																																			SMEK1	-	superfamily_ARM-type_fold		0.294	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	C	NM_032560		91931636	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	silent	SNP	0.999	T
SMG6	23293	genome.wustl.edu	37	17	2195915	2195915	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:2195915C>T	ENST00000263073.6	-	6	2318	c.2268G>A	c.(2266-2268)ctG>ctA	p.L756L	SMG6_ENST00000544865.1_Silent_p.L725L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	756					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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.L756L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCTGGGCCTTCAGGTACCAAC	0.438																																					Melanoma(59;28 1088 11621 25887 46638 50814)												1	Substitution - coding silent(1)	cervix(1)											96.0	101.0	99.0					17																	2195915		2203	4300	6503	SO:0001819	synonymous_variant	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2268G>A	17.37:g.2195915C>T			B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.L756	ENST00000263073.6	37	c.2268	CCDS11016.1	17																																																																																			SMG6	-	NULL		0.438	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	C			2195915	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	silent	SNP	1.000	T
SMG8	55181	genome.wustl.edu	37	17	57292318	57292318	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:57292318G>C	ENST00000543872.2	+	5	3195	c.2931G>C	c.(2929-2931)atG>atC	p.M977I	CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.M96I|SMG8_ENST00000300917.5_Missense_Mutation_p.M977I			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	977					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.M977I(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGCAGTTAATGAGCTACAAGG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											129.0	119.0	122.0					17																	57292318		2203	4300	6503	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2931G>C	17.37:g.57292318G>C	ENSP00000438748:p.Met977Ile		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.M977I	ENST00000543872.2	37	c.2931	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003429	0.35320	.	.	ENSG00000167447	ENST00000300917	T	0.41065	1.01	5.73	5.73	0.89815	.	0.220958	0.56097	D	0.000030	T	0.33673	0.0871	L	0.34521	1.04	0.35890	D	0.829588	B	0.26195	0.144	B	0.27262	0.078	T	0.37244	-0.9714	10	0.42905	T	0.14	-14.6403	12.2348	0.54510	0.0771:0.0:0.9229:0.0	.	977	Q8ND04	SMG8_HUMAN	I	977	ENSP00000300917:M977I	ENSP00000300917:M977I	M	+	3	0	SMG8	54647100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.255000	0.51484	2.707000	0.92482	0.561000	0.74099	ATG	SMG8	-	pfam_Smg8/Smg9		0.433	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	G	NM_018149		57292318	+1	no_errors	ENST00000300917	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC3A2	6520	genome.wustl.edu	37	11	62621506	62621506	+	5'Flank	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:62621506C>T	ENST00000377890.2	+	0	0				SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000365607.1_RNA|SLC3A2_ENST00000535296.1_5'Flank|SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000516331.1_RNA|SLC3A2_ENST00000377889.2_5'Flank|SNHG1_ENST00000384756.1_RNA|SNHG1_ENST00000363981.1_RNA|SLC3A2_ENST00000377891.2_5'Flank|SLC3A2_ENST00000377892.1_5'Flank	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCTCTGAAGGCTTTTCAATGG	0.368																																																	0																																										SO:0001631	upstream_gene_variant	23642				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091		11.37:g.62621506C>T	Exception_encountered		Q13543	RNA	SNP	-	NULL	ENST00000377890.2	37	NULL	CCDS8039.2	11																																																																																			SNHG1	-	-		0.368	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	SNHG1	HGNC	protein_coding	OTTHUMT00000157306.1	C	NM_001012661		62621506	-1	no_errors	ENST00000537068	ensembl	human	known	70_37	rna	SNP	0.000	T
SNIP1	79753	genome.wustl.edu	37	1	38005984	38005984	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:38005984C>G	ENST00000296215.6	-	3	772	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	234					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E234Q(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TTGGTGTCCTCAAGAAGTGCC	0.473																																																	1	Substitution - Missense(1)	cervix(1)											67.0	70.0	69.0					1																	38005984		2203	4300	6503	SO:0001583	missense	79753				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.700G>C	1.37:g.38005984C>G	ENSP00000296215:p.Glu234Gln		Q96SP9|Q9H9T7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E234Q	ENST00000296215.6	37	c.700	CCDS419.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207466	0.79240	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.48836	0.8	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	M	0.76938	2.355	0.80722	D	1	B	0.28998	0.23	B	0.34452	0.183	T	0.53265	-0.8463	10	0.33141	T	0.24	-13.5548	20.1865	0.98220	0.0:1.0:0.0:0.0	.	234	Q8TAD8	SNIP1_HUMAN	Q	234;218	ENSP00000296215:E234Q	ENSP00000296215:E234Q	E	-	1	0	SNIP1	37778571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.775000	0.95449	0.655000	0.94253	GAG	SNIP1	-	NULL		0.473	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNIP1	HGNC	protein_coding	OTTHUMT00000012169.2	C	NM_024700		38005984	-1	no_errors	ENST00000296215	ensembl	human	known	70_37	missense	SNP	1.000	G
SNIP1	79753	genome.wustl.edu	37	1	38019729	38019729	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:38019729G>C	ENST00000296215.6	-	1	174	c.102C>G	c.(100-102)ctC>ctG	p.L34L	DNALI1_ENST00000296218.7_5'Flank|DNALI1_ENST00000541606.1_5'Flank|SNIP1_ENST00000468040.1_Intron	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	34					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L34L(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				CTTCTGGGCTGAGACGCTCCT	0.736																																																	1	Substitution - coding silent(1)	cervix(1)											31.0	30.0	31.0					1																	38019729		2196	4298	6494	SO:0001819	synonymous_variant	79753				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.102C>G	1.37:g.38019729G>C			Q96SP9|Q9H9T7	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.L34	ENST00000296215.6	37	c.102	CCDS419.1	1																																																																																			SNIP1	-	NULL		0.736	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNIP1	HGNC	protein_coding	OTTHUMT00000012169.2	G	NM_024700		38019729	-1	no_errors	ENST00000296215	ensembl	human	known	70_37	silent	SNP	0.725	C
PPAN	56342	genome.wustl.edu	37	19	10218370	10218370	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:10218370G>C	ENST00000253107.7	+	3	397				PPAN_ENST00000556468.1_Intron|PPAN-P2RY11_ENST00000428358.1_Intron|PPAN-P2RY11_ENST00000393796.4_Intron|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_Intron|SNORD105B_ENST00000458770.1_RNA	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)						RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GAGCTGCTGTGATTTCTGGCT	0.517																																																	0													136.0	139.0	138.0					19																	10218370		876	1991	2867	SO:0001627	intron_variant	692229			BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.291+88G>C	19.37:g.10218370G>C			C9J3F9|Q9BW97|Q9H170	RNA	SNP	-	NULL	ENST00000253107.7	37	NULL	CCDS12225.1	19																																																																																			SNORD105	-	-		0.517	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD105	HGNC	protein_coding	OTTHUMT00000316658.1	G	NM_020230		10218370	+1	no_errors	ENST00000386910	ensembl	human	known	70_37	rna	SNP	0.798	C
SLC3A2	6520	genome.wustl.edu	37	11	62621156	62621156	+	5'Flank	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:62621156C>T	ENST00000377890.2	+	0	0				SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000365607.1_RNA|SLC3A2_ENST00000535296.1_5'Flank|SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000516331.1_RNA|SLC3A2_ENST00000377889.2_5'Flank|SNHG1_ENST00000384756.1_RNA|SNHG1_ENST00000363981.1_RNA|SLC3A2_ENST00000377891.2_5'Flank|SLC3A2_ENST00000377892.1_5'Flank	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TTCAGAGTCTCAACAGCAAGT	0.438																																																	0													174.0	150.0	158.0					11																	62621156		874	1990	2864	SO:0001631	upstream_gene_variant	9299				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091		11.37:g.62621156C>T	Exception_encountered		Q13543	RNA	SNP	-	NULL	ENST00000377890.2	37	NULL	CCDS8039.2	11																																																																																			SNORD30	-	-		0.438	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	SNORD30	HGNC	protein_coding	OTTHUMT00000157306.1	C	NM_001012661		62621156	-1	no_errors	ENST00000384693	ensembl	human	known	70_37	rna	SNP	1.000	T
SNORD3B-1	26851	genome.wustl.edu	37	17	18965611	18965611	+	lincRNA	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:18965611G>C	ENST00000363359.1	+	0	432				SNORD3B-2_ENST00000364880.1_lincRNA					small nucleolar RNA, C/D box 3B-1																		GTCTTGGCGCGAGGCGGGGGA	0.557																																																	0																																												780852			AF020534, AF020533, AF020532		17p11.2	2013-09-05	2006-11-28	2006-11-28	ENSG00000200229	ENSG00000265185			10168	non-coding RNA	RNA, small nucleolar			"""RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar"""	RNU3A1		9365252	Standard	NR_003271		Approved	U3a, U3b1, U3b2					17.37:g.18965611G>C				RNA	SNP	-	NULL	ENST00000363359.1	37	NULL		17																																																																																			SNORD3B-1	-	-		0.557	SNORD3B-1-201	KNOWN	basic	snoRNA	SNORD3B-2	Clone_based_vega_gene	lincRNA		G	NR_003271		18965611	+1	no_errors	ENST00000577988	ensembl	human	known	70_37	rna	SNP	0.011	C
SNRNP70	6625	genome.wustl.edu	37	19	49601710	49601710	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49601710C>G	ENST00000598441.1	+	5	516	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	SNRNP70_ENST00000221448.5_Missense_Mutation_p.Q98E			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	98					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q98E(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						TCCCAATGCTCAGGGGGATGC	0.527											OREG0025616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											123.0	123.0	123.0					19																	49601710		2203	4300	6503	SO:0001583	missense	6625				CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.292C>G	19.37:g.49601710C>G	ENSP00000472998:p.Gln98Glu	963	B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q98E	ENST00000598441.1	37	c.292	CCDS12756.1	19	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290649	0.40494	.	.	ENSG00000104852	ENST00000221448;ENST00000401730	T;T	0.73681	3.53;-0.77	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	N	0.03324	-0.35	0.80722	D	1	B;B	0.14012	0.006;0.009	B;B	0.16289	0.001;0.015	T	0.52034	-0.8629	10	0.37606	T	0.19	-34.9646	18.1994	0.89833	0.0:1.0:0.0:0.0	.	98;98	P08621;P08621-2	RU17_HUMAN;.	E	98	ENSP00000221448:Q98E;ENSP00000385077:Q98E	ENSP00000221448:Q98E	Q	+	1	0	SNRNP70	54293522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.121000	0.77160	2.679000	0.91253	0.655000	0.94253	CAG	SNRNP70	-	NULL		0.527	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP70	HGNC	protein_coding	OTTHUMT00000466266.1	C	NM_003089		49601710	+1	no_errors	ENST00000598441	ensembl	human	known	70_37	missense	SNP	1.000	G
SNX11	29916	genome.wustl.edu	37	17	46196369	46196369	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:46196369C>G	ENST00000393405.2	+	7	714	c.360C>G	c.(358-360)agC>agG	p.S120R	SNX11_ENST00000359238.2_Missense_Mutation_p.S120R|SNX11_ENST00000582104.1_Missense_Mutation_p.S112R|SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000439357.2_Missense_Mutation_p.S59R|SNX11_ENST00000580219.1_Missense_Mutation_p.S112R|SNX11_ENST00000452859.2_5'UTR	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	120	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)	p.S120R(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						TGTCAGACAGCCAGTTGCACC	0.537																																																	1	Substitution - Missense(1)	cervix(1)											159.0	129.0	139.0					17																	46196369		2203	4300	6503	SO:0001583	missense	29916			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.360C>G	17.37:g.46196369C>G	ENSP00000377059:p.Ser120Arg		B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S120R	ENST00000393405.2	37	c.360	CCDS11526.1	17	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330348	0.60743	.	.	ENSG00000002919	ENST00000393405;ENST00000439357;ENST00000359238	T;T;T	0.39592	1.07;1.07;1.07	5.51	1.25	0.21368	Phox homologous domain (5);	0.035658	0.85682	D	0.000000	T	0.55800	0.1943	M	0.63208	1.945	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	0.45877	-0.9231	10	0.32370	T	0.25	-21.26	10.652	0.45653	0.0:0.6455:0.0:0.3545	.	59;112;120	B4DKH7;B4DPY5;Q9Y5W9	.;.;SNX11_HUMAN	R	120;59;120	ENSP00000377059:S120R;ENSP00000407369:S59R;ENSP00000352175:S120R	ENSP00000352175:S120R	S	+	3	2	SNX11	43551368	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	1.156000	0.31712	-0.173000	0.10761	-1.134000	0.01955	AGC	SNX11	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.537	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX11	HGNC	protein_coding	OTTHUMT00000443423.1	C			46196369	+1	no_errors	ENST00000359238	ensembl	human	known	70_37	missense	SNP	0.999	G
SNX21	90203	genome.wustl.edu	37	20	44470020	44470020	+	3'UTR	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:44470020G>A	ENST00000491381.1	+	0	1258				SNX21_ENST00000372542.1_3'UTR|SNX21_ENST00000342644.5_Intron|SNX21_ENST00000344780.4_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21						protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				AGGACCTGATGAGAACAGAAT	0.517																																																	0																																										SO:0001624	3_prime_UTR_variant	90203			AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.*68G>A	20.37:g.44470020G>A			Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	RNA	SNP	-	NULL	ENST00000491381.1	37	NULL	CCDS13377.1	20																																																																																			SNX21	-	-		0.517	SNX21-010	KNOWN	basic|CCDS	protein_coding	SNX21	HGNC	protein_coding	OTTHUMT00000079534.1	G	NM_033421		44470020	+1	no_errors	ENST00000344780	ensembl	human	known	70_37	rna	SNP	0.000	A
ACOT8	10005	genome.wustl.edu	37	20	44470616	44470616	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:44470616G>A	ENST00000217455.4	-	6	932				SNX21_ENST00000342644.5_Intron|SNX21_ENST00000344780.4_3'UTR	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8						acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGTGAAGGGTGATGATGGCCT	0.562																																																	0													95.0	100.0	99.0					20																	44470616		2203	4300	6503	SO:0001627	intron_variant	90203			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.842-21C>T	20.37:g.44470616G>A			O15261|Q17RX4	RNA	SNP	-	NULL	ENST00000217455.4	37	NULL	CCDS13378.1	20																																																																																			SNX21	-	-		0.562	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX21	HGNC	protein_coding	OTTHUMT00000080338.2	G	NM_183386		44470616	+1	no_errors	ENST00000344780	ensembl	human	known	70_37	rna	SNP	0.000	A
SOCS2	8835	genome.wustl.edu	37	12	93968612	93968612	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:93968612C>G	ENST00000340600.2	+	3	852	c.254C>G	c.(253-255)tCt>tGt	p.S85C	SOCS2_ENST00000536696.2_Missense_Mutation_p.S85C|SOCS2_ENST00000549206.1_Missense_Mutation_p.S85C|SOCS2_ENST00000551556.1_Missense_Mutation_p.S85C|SOCS2_ENST00000549122.1_Missense_Mutation_p.S85C|SOCS2_ENST00000548537.1_3'UTR	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	85	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)	p.S85C(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CTAACAATATCTGTTAAAACA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											80.0	77.0	78.0					12																	93968612		2203	4300	6503	SO:0001583	missense	8835			AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.254C>G	12.37:g.93968612C>G	ENSP00000339428:p.Ser85Cys		A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2	p.S85C	ENST00000340600.2	37	c.254	CCDS9047.1	12	.	.	.	.	.	.	.	.	.	.	C	22.8	4.330817	0.81690	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000548091;ENST00000549122;ENST00000549887;ENST00000551556	D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.84	5.84	0.93424	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.96956	0.9006	M	0.89601	3.045	0.80722	D	1	D	0.57571	0.98	P	0.57548	0.823	D	0.97201	0.9864	10	0.87932	D	0	-0.7853	20.1346	0.98019	0.0:1.0:0.0:0.0	.	85	O14508	SOCS2_HUMAN	C	85;85;85;33;85;85;85;85	ENSP00000339428:S85C;ENSP00000448815:S85C;ENSP00000442898:S85C;ENSP00000447902:S85C;ENSP00000447161:S85C;ENSP00000448611:S85C;ENSP00000449227:S85C	ENSP00000339428:S85C	S	+	2	0	SOCS2	92492743	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.554000	0.82212	2.765000	0.95021	0.655000	0.94253	TCT	SOCS2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.363	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS2	HGNC	protein_coding	OTTHUMT00000407731.2	C			93968612	+1	no_errors	ENST00000340600	ensembl	human	known	70_37	missense	SNP	1.000	G
SON	6651	genome.wustl.edu	37	21	34925697	34925697	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:34925697C>T	ENST00000356577.4	+	3	4635	c.4160C>T	c.(4159-4161)tCg>tTg	p.S1387L	SON_ENST00000290239.6_Missense_Mutation_p.S1387L|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S1387L|SON_ENST00000300278.4_Missense_Mutation_p.S1387L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1387	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S1387L(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTGGAGCCTTCGGTTGTGACT	0.557																																																	2	Substitution - Missense(2)	cervix(2)											80.0	73.0	75.0					21																	34925697		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4160C>T	21.37:g.34925697C>T	ENSP00000348984:p.Ser1387Leu		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.S1387L	ENST00000356577.4	37	c.4160	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.08|12.08	1.829863|1.829863	0.32329|0.32329	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.11821	.|2.95;2.94;2.93;2.74	5.68|5.68	1.53|1.53	0.23141|0.23141	.|.	.|1.520600	.|0.03714	.|N	.|0.250755	T|T	0.06554|0.06554	0.0168|0.0168	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0;0.0	T|T	0.32640|0.32640	-0.9899|-0.9899	5|10	.|0.66056	.|D	.|0.02	.|.	2.2075|2.2075	0.03939|0.03939	0.1274:0.4798:0.1909:0.202|0.1274:0.4798:0.1909:0.202	.|.	.|1387;1387;1068;1387;1387	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	W|L	382|1387	.|ENSP00000348984:S1387L;ENSP00000290239:S1387L;ENSP00000300278:S1387L;ENSP00000371095:S1387L	.|ENSP00000290239:S1387L	R|S	+|+	1|2	2|0	SON|SON	33847567|33847567	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.010000|-0.010000	0.12743|0.12743	0.282000|0.282000	0.22254|0.22254	-0.192000|-0.192000	0.12808|0.12808	CGG|TCG	SON	-	NULL		0.557	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	C	NM_138927		34925697	+1	no_errors	ENST00000356577	ensembl	human	known	70_37	missense	SNP	0.000	T
SORBS1	10580	genome.wustl.edu	37	10	97174291	97174291	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:97174291C>G	ENST00000361941.3	-	7	796	c.770G>C	c.(769-771)aGa>aCa	p.R257T	SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R257T|SORBS1_ENST00000371246.2_Missense_Mutation_p.R257T|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.R257T|SORBS1_ENST00000371249.2_Missense_Mutation_p.R225T|SORBS1_ENST00000354106.3_Missense_Mutation_p.R248T|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371227.4_Missense_Mutation_p.R257T|SORBS1_ENST00000353505.5_Missense_Mutation_p.R188T|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.R248T|SORBS1_ENST00000371245.3_Missense_Mutation_p.R188T|SORBS1_ENST00000607232.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.R188T(1)|p.R257T(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTCCGAGACTCTGCGGAGGTC	0.632																																																	2	Substitution - Missense(2)	cervix(2)											36.0	37.0	36.0					10																	97174291		2203	4299	6502	SO:0001583	missense	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.770G>C	10.37:g.97174291C>G	ENSP00000355136:p.Arg257Thr			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.R257T	ENST00000361941.3	37	c.770	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369104	0.61624	.	.	ENSG00000095637	ENST00000371245;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.7;1.03;1.7;1.03;1.03;1.03;1.03;1.03;1.03	5.54	5.54	0.83059	.	0.147943	0.31949	N	0.006810	T	0.45597	0.1350	L	0.60455	1.87	0.80722	D	1	P;P;P;P;P;P;P	0.50156	0.932;0.775;0.837;0.775;0.822;0.717;0.673	B;B;B;B;B;B;B	0.42593	0.387;0.306;0.392;0.306;0.359;0.211;0.307	T	0.50338	-0.8840	10	0.59425	D	0.04	-5.5254	18.4741	0.90785	0.0:1.0:0.0:0.0	.	455;225;257;225;188;257;257	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-3;Q9BX66;Q9BX66-2	.;.;.;.;.;SRBS1_HUMAN;.	T	188;225;257;257;257;248;188;257;257;248	ENSP00000360291:R188T;ENSP00000360295:R225T;ENSP00000360293:R257T;ENSP00000360271:R257T;ENSP00000360292:R257T;ENSP00000377521:R248T;ENSP00000343998:R188T;ENSP00000355136:R257T;ENSP00000277982:R257T;ENSP00000277984:R248T	ENSP00000277982:R257T	R	-	2	0	SORBS1	97164281	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	5.485000	0.66850	2.608000	0.88229	0.555000	0.69702	AGA	SORBS1	-	NULL		0.632	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	C			97174291	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	missense	SNP	1.000	G
SORCS1	114815	genome.wustl.edu	37	10	108716280	108716280	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:108716280G>A	ENST00000263054.6	-	2	624	c.617C>T	c.(616-618)tCg>tTg	p.S206L	SORCS1_ENST00000344440.6_Missense_Mutation_p.S206L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	206					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.S206L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTCCAAAGCGAGCTCTCTGT	0.418																																																	2	Substitution - Missense(2)	cervix(2)											145.0	133.0	137.0					10																	108716280		2203	4300	6503	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.617C>T	10.37:g.108716280G>A	ENSP00000263054:p.Ser206Leu		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.S206L	ENST00000263054.6	37	c.617	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864177	0.71949	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.51071	0.72;0.72	5.76	5.76	0.90799	VPS10 (1);	0.000000	0.64402	D	0.000001	T	0.67088	0.2856	M	0.65498	2.005	0.46823	D	0.99921	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999	P;D;P;P;D	0.63597	0.77;0.916;0.885;0.826;0.916	T	0.63107	-0.6711	9	.	.	.	-10.9247	20.3316	0.98722	0.0:0.0:1.0:0.0	.	206;206;206;206;206	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	L	206	ENSP00000263054:S206L;ENSP00000345964:S206L	.	S	-	2	0	SORCS1	108706270	1.000000	0.71417	0.977000	0.42913	0.281000	0.26958	7.715000	0.84713	2.871000	0.98454	0.655000	0.94253	TCG	SORCS1	-	smart_VPS10		0.418	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	G	NM_052918		108716280	-1	no_errors	ENST00000344440	ensembl	human	known	70_37	missense	SNP	0.997	A
SOX11	6664	genome.wustl.edu	37	2	5832886	5832886	+	Missense_Mutation	SNP	G	G	C	rs369950584		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:5832886G>C	ENST00000322002.3	+	1	88	c.33G>C	c.(31-33)gaG>gaC	p.E11D	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	11					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)	p.E11D(1)		central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGGAAGCGGAGAGCAACCTGC	0.697																																																	1	Substitution - Missense(1)	cervix(1)											23.0	25.0	25.0					2																	5832886		2202	4300	6502	SO:0001583	missense	6664				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.33G>C	2.37:g.5832886G>C	ENSP00000322568:p.Glu11Asp		Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily	p.E11D	ENST00000322002.3	37	c.33	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	g	9.623	1.134242	0.21123	.	.	ENSG00000176887	ENST00000322002	D	0.97811	-4.55	3.18	0.94	0.19513	.	0.095949	0.40469	U	0.001084	D	0.88797	0.6534	N	0.01874	-0.695	0.28163	N	0.928901	B	0.09022	0.002	B	0.11329	0.006	T	0.82450	-0.0451	10	0.22109	T	0.4	.	7.3787	0.26843	0.0:0.3413:0.4829:0.1759	.	11	P35716	SOX11_HUMAN	D	11	ENSP00000322568:E11D	ENSP00000322568:E11D	E	+	3	2	SOX11	5750337	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	0.526000	0.22971	0.379000	0.24794	0.472000	0.43445	GAG	SOX11	-	pirsf_SOX-12/11/4a		0.697	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	G	NM_003108		5832886	+1	no_errors	ENST00000322002	ensembl	human	known	70_37	missense	SNP	1.000	C
SOS1	6654	genome.wustl.edu	37	2	39222312	39222312	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:39222312C>G	ENST00000426016.1	-	21	3384	c.3298G>C	c.(3298-3300)Gat>Cat	p.D1100H	SOS1-IT1_ENST00000594472.1_RNA|SOS1_ENST00000402219.2_Missense_Mutation_p.D1100H|SOS1_ENST00000395038.2_Missense_Mutation_p.D1100H			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1100					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1100H(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTGCAAACATCTGTGGTACTG	0.423									Noonan syndrome																																								1	Substitution - Missense(1)	cervix(1)											131.0	116.0	121.0					2																	39222312		2203	4300	6503	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3298G>C	2.37:g.39222312C>G	ENSP00000387784:p.Asp1100His		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D1100H	ENST00000426016.1	37	c.3298	CCDS1802.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.904815|4.904815	0.92035|0.92035	.|.	.|.	ENSG00000115904|ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038|ENST00000263879	T;T;T|.	0.78595|.	-1.01;-1.01;-1.19|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.051683|.	0.85682|.	D|.	0.000000|.	T|T	0.75332|0.75332	0.3835|0.3835	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.81914|.	0.995|.	T|T	0.75714|0.75714	-0.3221|-0.3221	10|6	0.62326|0.87932	D|D	0.03|0	.|.	20.2963|20.2963	0.98556|0.98556	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1100|.	Q07889|.	SOS1_HUMAN|.	H|T	1100;1100;832;1100|1099	ENSP00000387784:D1100H;ENSP00000384675:D1100H;ENSP00000378479:D1100H|.	ENSP00000378479:D1100H|ENSP00000263879:R1099T	D|R	-|-	1|2	0|0	SOS1|SOS1	39075816|39075816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.133000|7.133000	0.77259|0.77259	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GAT|AGA	SOS1	-	NULL		0.423	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	C	NM_005633		39222312	-1	no_errors	ENST00000402219	ensembl	human	known	70_37	missense	SNP	1.000	G
SPAG17	200162	genome.wustl.edu	37	1	118523950	118523950	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:118523950C>A	ENST00000336338.5	-	43	6012	c.5947G>T	c.(5947-5949)Gat>Tat	p.D1983Y	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1983						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.D1983Y(1)		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)		TCCTTCTTATCTGCAGAAATC	0.358																																																	1	Substitution - Missense(1)	cervix(1)											121.0	120.0	120.0					1																	118523950		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.5947G>T	1.37:g.118523950C>A	ENSP00000337804:p.Asp1983Tyr		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.D1983Y	ENST00000336338.5	37	c.5947	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608542	0.28623	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.18810	2.19	4.68	1.79	0.24919	.	0.910463	0.09393	N	0.808222	T	0.09905	0.0243	L	0.51422	1.61	0.09310	N	1	B	0.28880	0.226	B	0.37304	0.246	T	0.44205	-0.9343	10	0.59425	D	0.04	.	6.3969	0.21616	0.0:0.6903:0.0:0.3097	.	1983	Q6Q759	SPG17_HUMAN	Y	1983;463	ENSP00000337804:D1983Y	ENSP00000337804:D1983Y	D	-	1	0	SPAG17	118325473	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.601000	0.05687	0.212000	0.20703	0.650000	0.86243	GAT	SPAG17	-	NULL		0.358	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	C	NM_206996		118523950	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	0.000	A
SPATA19	219938	genome.wustl.edu	37	11	133711958	133711958	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:133711958C>G	ENST00000299140.3	-	6	534	c.480G>C	c.(478-480)atG>atC	p.M160I	SPATA19_ENST00000532889.1_Missense_Mutation_p.M160I	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	160					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)		p.M160I(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		AGGAGGGTCTCATACTGAAGT	0.572																																																	1	Substitution - Missense(1)	cervix(1)											141.0	129.0	133.0					11																	133711958		2201	4297	6498	SO:0001583	missense	219938			AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.480G>C	11.37:g.133711958C>G	ENSP00000299140:p.Met160Ile		Q8N7A9	Missense_Mutation	SNP	NULL	p.M160I	ENST00000299140.3	37	c.480	CCDS8493.1	11	.	.	.	.	.	.	.	.	.	.	C	6.406	0.442977	0.12164	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.41758	0.99;0.99	5.45	0.451	0.16629	.	1.903710	0.02428	N	0.083289	T	0.23249	0.0562	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13229	-1.0517	10	0.22706	T	0.39	-19.9679	5.6328	0.17520	0.3235:0.1671:0.5094:0.0	.	160	Q7Z5L4	SPT19_HUMAN	I	160	ENSP00000299140:M160I;ENSP00000435248:M160I	ENSP00000299140:M160I	M	-	3	0	SPATA19	133217168	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.432000	0.21461	0.182000	0.20032	0.561000	0.74099	ATG	SPATA19	-	NULL		0.572	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA19	HGNC	protein_coding	OTTHUMT00000393281.1	C	NM_174927		133711958	-1	no_errors	ENST00000299140	ensembl	human	known	70_37	missense	SNP	0.000	G
SPATA2L	124044	genome.wustl.edu	37	16	89764620	89764620	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:89764620C>G	ENST00000289805.5	-	3	465	c.397G>C	c.(397-399)Gac>Cac	p.D133H	SPATA2L_ENST00000335360.7_Missense_Mutation_p.D133H	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	133								p.D133H(1)		breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CGATGGCTGTCTCTGCGTACG	0.647																																																	1	Substitution - Missense(1)	cervix(1)											102.0	109.0	107.0					16																	89764620		2198	4300	6498	SO:0001583	missense	124044			AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.397G>C	16.37:g.89764620C>G	ENSP00000289805:p.Asp133His		D3DX85|Q8NHV3	Missense_Mutation	SNP	NULL	p.D133H	ENST00000289805.5	37	c.397	CCDS10985.1	16	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568610	0.65651	.	.	ENSG00000158792	ENST00000289805;ENST00000335360	.	.	.	4.72	4.72	0.59763	.	0.432276	0.25032	N	0.033669	T	0.59418	0.2192	L	0.34521	1.04	0.39598	D	0.969684	D;D	0.69078	0.992;0.997	P;P	0.57425	0.739;0.82	T	0.56715	-0.7933	9	0.23891	T	0.37	-14.5919	14.5995	0.68429	0.0:1.0:0.0:0.0	.	133;133	Q8IUW3-2;Q8IUW3	.;SPA2L_HUMAN	H	133	.	ENSP00000289805:D133H	D	-	1	0	SPATA2L	88292121	0.936000	0.31750	0.960000	0.40013	0.844000	0.47949	3.496000	0.53288	2.158000	0.67659	0.462000	0.41574	GAC	SPATA2L	-	NULL		0.647	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2L	HGNC	protein_coding	OTTHUMT00000269923.1	C	NM_152339		89764620	-1	no_errors	ENST00000289805	ensembl	human	known	70_37	missense	SNP	0.985	G
SPDYA	245711	genome.wustl.edu	37	2	29063288	29063288	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:29063288C>G	ENST00000334056.5	+	7	992	c.803C>G	c.(802-804)tCa>tGa	p.S268*	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Nonsense_Mutation_p.S268*	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A									p.S268*(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AACTCACTGTCAATGGACATA	0.373																																																	2	Substitution - Nonsense(2)	cervix(2)											94.0	93.0	93.0					2																	29063288		2203	4300	6503	SO:0001587	stop_gained	245711			AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"""Speedy homologs"""	30613	protein-coding gene	gene with protein product		614029	"""speedy homolog 1 (Drosophila)"", ""speedy homolog A (Xenopus laevis)"""	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.803C>G	2.37:g.29063288C>G	ENSP00000335628:p.Ser268*			Nonsense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.S268*	ENST00000334056.5	37	c.803	CCDS1767.2	2	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400666	0.62177	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.64	5.64	0.86602	.	1.790380	0.04578	U	0.394478	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.4211	15.533	0.75980	0.0:0.8624:0.1375:0.0	.	.	.	.	X	268	.	ENSP00000335628:S268X	S	+	2	0	SPDYA	28916792	0.237000	0.23815	0.017000	0.16124	0.035000	0.12851	3.599000	0.54045	2.812000	0.96745	0.557000	0.71058	TCA	SPDYA	-	NULL		0.373	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYA	HGNC	protein_coding	OTTHUMT00000157171.1	C	NM_182756		29063288	+1	no_errors	ENST00000334056	ensembl	human	known	70_37	nonsense	SNP	0.018	G
SPEN	23013	genome.wustl.edu	37	1	16257906	16257906	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16257906C>G	ENST00000375759.3	+	11	5375	c.5171C>G	c.(5170-5172)tCa>tGa	p.S1724*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1724					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S1724*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAGGTTCATCAGGTGACCAG	0.592																																																	1	Substitution - Nonsense(1)	cervix(1)											137.0	148.0	144.0					1																	16257906		2203	4300	6503	SO:0001587	stop_gained	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5171C>G	1.37:g.16257906C>G	ENSP00000364912:p.Ser1724*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S1724*	ENST00000375759.3	37	c.5171	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	45	11.468319	0.99565	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.16	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	0.0045	13.9448	0.64077	0.0:0.9263:0.0:0.0737	.	.	.	.	X	1724	.	ENSP00000364912:S1724X	S	+	2	0	SPEN	16130493	0.003000	0.15002	0.001000	0.08648	0.471000	0.32888	1.984000	0.40658	1.163000	0.42636	-0.356000	0.07607	TCA	SPEN	-	NULL		0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	C	NM_015001		16257906	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	nonsense	SNP	0.003	G
SPEN	23013	genome.wustl.edu	37	1	16259072	16259072	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16259072G>C	ENST00000375759.3	+	11	6541	c.6337G>C	c.(6337-6339)Gaa>Caa	p.E2113Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2113					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.E2113Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGGGAGAGGGAATCTGGGGT	0.517																																																	1	Substitution - Missense(1)	cervix(1)											82.0	91.0	88.0					1																	16259072		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6337G>C	1.37:g.16259072G>C	ENSP00000364912:p.Glu2113Gln		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E2113Q	ENST00000375759.3	37	c.6337	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	6.135	0.393142	0.11638	.	.	ENSG00000065526	ENST00000375759	T	0.10668	2.85	5.16	5.16	0.70880	.	.	.	.	.	T	0.15132	0.0365	M	0.64997	1.995	0.33289	D	0.563281	P	0.42827	0.791	B	0.37650	0.255	T	0.17623	-1.0363	9	0.31617	T	0.26	-20.1733	18.6457	0.91409	0.0:0.0:1.0:0.0	.	2113	Q96T58	MINT_HUMAN	Q	2113	ENSP00000364912:E2113Q	ENSP00000364912:E2113Q	E	+	1	0	SPEN	16131659	0.999000	0.42202	0.145000	0.22337	0.191000	0.23601	4.683000	0.61679	2.411000	0.81874	0.462000	0.41574	GAA	SPEN	-	NULL		0.517	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16259072	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.927	C
SPEN	23013	genome.wustl.edu	37	1	16261839	16261839	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16261839C>G	ENST00000375759.3	+	11	9308	c.9104C>G	c.(9103-9105)tCa>tGa	p.S3035*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3035					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S3035*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGGCCATCCTCATTCCCAAGG	0.607																																																	1	Substitution - Nonsense(1)	cervix(1)											129.0	116.0	121.0					1																	16261839		2203	4300	6503	SO:0001587	stop_gained	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9104C>G	1.37:g.16261839C>G	ENSP00000364912:p.Ser3035*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S3035*	ENST00000375759.3	37	c.9104	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	49	15.196964	0.99825	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.54	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-2.6393	14.8843	0.70555	0.0:0.9299:0.0:0.0701	.	.	.	.	X	3035	.	ENSP00000364912:S3035X	S	+	2	0	SPEN	16134426	0.505000	0.26131	0.075000	0.20258	0.329000	0.28539	2.385000	0.44371	1.312000	0.45043	0.556000	0.70494	TCA	SPEN	-	NULL		0.607	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	C	NM_015001		16261839	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	nonsense	SNP	0.547	G
SPEN	23013	genome.wustl.edu	37	1	16262059	16262059	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:16262059C>G	ENST00000375759.3	+	11	9528	c.9324C>G	c.(9322-9324)atC>atG	p.I3108M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3108					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.I3108M(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCCAGTATCACCTACAGCA	0.632																																																	1	Substitution - Missense(1)	cervix(1)											69.0	59.0	63.0					1																	16262059		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9324C>G	1.37:g.16262059C>G	ENSP00000364912:p.Ile3108Met		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.I3108M	ENST00000375759.3	37	c.9324	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	7.993	0.753807	0.15778	.	.	ENSG00000065526	ENST00000375759	T	0.11821	2.74	5.1	4.12	0.48240	.	.	.	.	.	T	0.10208	0.0250	L	0.29908	0.895	0.34547	D	0.710895	P	0.44090	0.826	B	0.41917	0.37	T	0.12604	-1.0541	9	0.30078	T	0.28	-12.1403	7.4236	0.27085	0.0:0.4851:0.4188:0.096	.	3108	Q96T58	MINT_HUMAN	M	3108	ENSP00000364912:I3108M	ENSP00000364912:I3108M	I	+	3	3	SPEN	16134646	0.698000	0.27777	1.000000	0.80357	0.982000	0.71751	-0.124000	0.10595	2.377000	0.81083	0.491000	0.48974	ATC	SPEN	-	NULL		0.632	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	C	NM_015001		16262059	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	G
SPG7	6687	genome.wustl.edu	37	16	89603184	89603184	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:89603184G>A	ENST00000268704.2	+	9	1339				SPG7_ENST00000341316.2_Missense_Mutation_p.D446N	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)						anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.D446N(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGCCTCTCTTGACCAGCTACC	0.652																																																	1	Substitution - Missense(1)	cervix(1)											119.0	128.0	125.0					16																	89603184		2198	4300	6498	SO:0001627	intron_variant	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1324+4140G>A	16.37:g.89603184G>A			O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D446N	ENST00000268704.2	37	c.1336	CCDS10977.1	16	.	.	.	.	.	.	.	.	.	.	G	5.337	0.247471	0.10130	.	.	ENSG00000197912	ENST00000341316	D	0.94576	-3.46	0.74	-0.514	0.11958	.	.	.	.	.	D	0.86422	0.5929	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.72257	-0.4346	7	0.20519	T	0.43	.	.	.	.	.	446	Q9UQ90-2	.	N	446	ENSP00000341157:D446N	ENSP00000341157:D446N	D	+	1	0	SPG7	88130685	.	.	0.001000	0.08648	0.014000	0.08584	.	.	-0.160000	0.11002	0.407000	0.27541	GAC	SPG7	-	smart_AAA+_ATPase		0.652	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG7	HGNC	protein_coding	OTTHUMT00000269921.2	G	NM_003119		89603184	+1	no_errors	ENST00000341316	ensembl	human	known	70_37	missense	SNP	0.001	A
SPHK2	56848	genome.wustl.edu	37	19	49131293	49131293	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49131293C>T	ENST00000245222.4	+	5	1089	c.723C>T	c.(721-723)atC>atT	p.I241I	SPHK2_ENST00000599748.1_Silent_p.I205I|SPHK2_ENST00000340932.3_Silent_p.I205I|SPHK2_ENST00000601712.1_Silent_p.I205I|SPHK2_ENST00000600537.1_Silent_p.I182I|SPHK2_ENST00000443164.1_Silent_p.I303I|SPHK2_ENST00000598088.1_Silent_p.I241I|SPHK2_ENST00000599029.1_Silent_p.I205I	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	241	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.I241I(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGATGGCATCGTCACGGTCT	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											69.0	74.0	72.0					19																	49131293		2203	4300	6503	SO:0001819	synonymous_variant	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.723C>T	19.37:g.49131293C>T			A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.I303	ENST00000245222.4	37	c.909	CCDS12727.1	19																																																																																			SPHK2	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.652	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	C			49131293	+1	no_errors	ENST00000443164	ensembl	human	known	70_37	silent	SNP	0.998	T
SPIC	121599	genome.wustl.edu	37	12	101880256	101880256	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:101880256G>A	ENST00000551346.1	+	6	613	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SPIC_ENST00000299272.5_Missense_Mutation_p.E152K			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	152					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E152K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAAACTTGCCGAGCTTTGGGG	0.413																																																	1	Substitution - Missense(1)	cervix(1)											54.0	56.0	55.0					12																	101880256		2203	4300	6503	SO:0001583	missense	121599			AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.454G>A	12.37:g.101880256G>A	ENSP00000448580:p.Glu152Lys			Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E152K	ENST00000551346.1	37	c.454	CCDS9082.1	12	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448002	0.63178	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.18338	2.22;2.22	4.69	3.8	0.43715	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.095949	0.64402	D	0.000001	T	0.14184	0.0343	N	0.25485	0.75	0.53688	D	0.999973	P	0.44521	0.837	B	0.42361	0.385	T	0.04307	-1.0961	10	0.33141	T	0.24	-0.0854	13.892	0.63744	0.0:0.1971:0.8029:0.0	.	152	Q8N5J4	SPIC_HUMAN	K	152	ENSP00000448580:E152K;ENSP00000299272:E152K	ENSP00000299272:E152K	E	+	1	0	SPIC	100404387	1.000000	0.71417	0.984000	0.44739	0.952000	0.60782	4.875000	0.63072	1.102000	0.41551	0.650000	0.86243	GAG	SPIC	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets		0.413	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIC	HGNC	protein_coding	OTTHUMT00000408260.1	G	NM_152323		101880256	+1	no_errors	ENST00000299272	ensembl	human	known	70_37	missense	SNP	0.998	A
SPTAN1	6709	genome.wustl.edu	37	9	131361301	131361301	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:131361301G>C	ENST00000372731.4	+	26	3653				SPTAN1_ENST00000372739.3_Intron|SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000358161.5_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						TCTTGAACATGAGAAGGACTT	0.408																																					NSCLC(120;833 1744 2558 35612 37579)												0													165.0	151.0	156.0					9																	131361301		2203	4300	6503	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.3543+36G>C	9.37:g.131361301G>C			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	RNA	SNP	-	NULL	ENST00000372731.4	37	NULL	CCDS6905.1	9																																																																																			SPTAN1	-	-		0.408	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131361301	+1	no_errors	ENST00000475367	ensembl	human	known	70_37	rna	SNP	0.044	C
SPTY2D1	144108	genome.wustl.edu	37	11	18636241	18636241	+	Missense_Mutation	SNP	G	G	A	rs569563128		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:18636241G>A	ENST00000336349.5	-	3	1815	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	527	Ser-rich.							p.S527L(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						AGTGGGACCTGAGCTACTAAC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		18159	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	cervix(1)											67.0	66.0	67.0					11																	18636241		2199	4293	6492	SO:0001583	missense	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1580C>T	11.37:g.18636241G>A	ENSP00000337991:p.Ser527Leu		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.S527L	ENST00000336349.5	37	c.1580	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544600	0.65198	.	.	ENSG00000179119	ENST00000336349	T	0.37058	1.22	6.08	5.17	0.71159	.	0.480260	0.21938	N	0.066933	T	0.42040	0.1185	L	0.52364	1.645	0.39577	D	0.969372	D	0.59357	0.985	P	0.50314	0.637	T	0.29397	-1.0013	10	0.30854	T	0.27	-0.1249	13.5588	0.61777	0.1297:0.0:0.8703:0.0	.	527	Q68D10	SPT2_HUMAN	L	527	ENSP00000337991:S527L	ENSP00000337991:S527L	S	-	2	0	SPTY2D1	18592817	1.000000	0.71417	0.984000	0.44739	0.771000	0.43674	2.838000	0.48199	1.582000	0.49881	0.655000	0.94253	TCA	SPTY2D1	-	NULL		0.473	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	G	NM_194285		18636241	-1	no_errors	ENST00000336349	ensembl	human	known	70_37	missense	SNP	1.000	A
SPTBN2	6712	genome.wustl.edu	37	11	66467041	66467041	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:66467041G>C	ENST00000533211.1	-	18	3943	c.3612C>G	c.(3610-3612)ctC>ctG	p.L1204L	SPTBN2_ENST00000529997.1_Silent_p.L1204L|SPTBN2_ENST00000309996.2_Silent_p.L1204L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1204					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)	p.L1204L(1)		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						CAGCAGCCTGGAGTGTCCCTG	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											100.0	94.0	96.0					11																	66467041		2200	4295	6495	SO:0001819	synonymous_variant	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.3612C>G	11.37:g.66467041G>C			O14872|O14873	Silent	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.L1204	ENST00000533211.1	37	c.3612	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.567	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	G	NM_006946		66467041	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	silent	SNP	0.623	C
SRD5A3	79644	genome.wustl.edu	37	4	56230311	56230311	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:56230311C>T	ENST00000264228.4	+	3	663	c.435C>T	c.(433-435)ttC>ttT	p.F145F	SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	145					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.F145F(2)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GAAGACTCTTCGAGTGCCTCT	0.478																																																	2	Substitution - coding silent(2)	cervix(1)|large_intestine(1)											279.0	225.0	243.0					4																	56230311		2203	4300	6503	SO:0001819	synonymous_variant	79644			AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.435C>T	4.37:g.56230311C>T			Q4W5Q6	Silent	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.F145	ENST00000264228.4	37	c.435	CCDS3498.1	4																																																																																			SRD5A3	-	NULL		0.478	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRD5A3	HGNC	protein_coding	OTTHUMT00000250644.2	C	NM_024592		56230311	+1	no_errors	ENST00000264228	ensembl	human	known	70_37	silent	SNP	0.834	T
SREBF1	6720	genome.wustl.edu	37	17	17723446	17723446	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:17723446G>A	ENST00000261646.5	-	2	665	c.481C>T	c.(481-483)Cct>Tct	p.P161S	SREBF1_ENST00000338854.5_Missense_Mutation_p.P161S|SREBF1_ENST00000435530.2_Missense_Mutation_p.P161S|SREBF1_ENST00000395757.1_5'Flank|SREBF1_ENST00000355815.4_Missense_Mutation_p.P191S|SREBF1_ENST00000583732.1_Intron	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	161	Pro/Ser-rich.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)	p.P191S(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCTAACACAGGGGTGGAGCTG	0.687																																																	1	Substitution - Missense(1)	cervix(1)											17.0	21.0	19.0					17																	17723446		2192	4289	6481	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.481C>T	17.37:g.17723446G>A	ENSP00000261646:p.Pro161Ser		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.P191S	ENST00000261646.5	37	c.571	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.65|12.65	2.001284|2.001284	0.35320|0.35320	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000423161;ENST00000435530	.|T;T;T;T;T	.|0.80214	.|0.43;0.48;0.48;-0.16;-1.35	4.58|4.58	2.42|2.42	0.29668|0.29668	.|.	0.369521|0.369521	0.28360|0.28360	N|N	0.015633|0.015633	T|T	0.82051|0.82051	0.4953|0.4953	L|L	0.52759|0.52759	1.655|1.655	0.09310|0.09310	N|N	0.999998|0.999998	.|D;D;B;D	.|0.67145	.|0.993;0.993;0.075;0.996	.|D;D;B;D	.|0.78314	.|0.968;0.968;0.006;0.991	T|T	0.69131|0.69131	-0.5226|-0.5226	6|10	.|0.46703	.|T	.|0.11	-13.6213|-13.6213	2.7667|2.7667	0.05322|0.05322	0.1035:0.1805:0.5304:0.1856|0.1035:0.1805:0.5304:0.1856	.|.	.|161;137;161;191	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	L|S	168|161;191;161;87;161	.|ENSP00000345822:P161S;ENSP00000348069:P191S;ENSP00000261646:P161S;ENSP00000411516:P87S;ENSP00000413389:P161S	.|ENSP00000261646:P161S	P|P	-|-	2|1	0|0	SREBF1|SREBF1	17664171|17664171	0.948000|0.948000	0.32251|0.32251	0.011000|0.011000	0.14972|0.14972	0.656000|0.656000	0.38851|0.38851	2.670000|2.670000	0.46833|0.46833	0.914000|0.914000	0.36822|0.36822	0.555000|0.555000	0.69702|0.69702	CCC|CCT	SREBF1	-	NULL		0.687	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	G	NM_004176		17723446	-1	no_errors	ENST00000355815	ensembl	human	known	70_37	missense	SNP	0.013	A
SRP19	6728	genome.wustl.edu	37	5	112200184	112200184	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:112200184C>G	ENST00000505459.1	+	3	303	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	CTC-487M23.8_ENST00000506997.1_3'UTR|SRP19_ENST00000282999.3_Missense_Mutation_p.Q50E|SRP19_ENST00000515463.1_Missense_Mutation_p.F24L|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-554D6.1_ENST00000520401.1_3'UTR	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	50					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)	p.Q50E(1)		breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TACAGAGATTCAAGATGTATG	0.343																																																	1	Substitution - Missense(1)	cervix(1)											171.0	164.0	167.0					5																	112200184		2202	4300	6502	SO:0001583	missense	6728				CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1	5q21-q22	2008-07-18	2002-08-29		ENSG00000153037	ENSG00000153037			11300	protein-coding gene	gene with protein product		182175	"""signal recognition particle 19kD"""			2460823	Standard	NM_003135		Approved		uc011cvu.2	P09132	OTTHUMG00000128805	ENST00000505459.1:c.148C>G	5.37:g.112200184C>G	ENSP00000424870:p.Gln50Glu		B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19	p.Q50E	ENST00000505459.1	37	c.148	CCDS4108.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.74|16.74	3.207091|3.207091	0.58343|0.58343	.|.	.|.	ENSG00000153037|ENSG00000153037	ENST00000515463|ENST00000505459;ENST00000282999	.|T;T	.|0.41758	.|1.01;0.99	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.179487	.|0.52532	.|D	.|0.000079	T|T	0.32466|0.32466	0.0830|0.0830	.|.	.|.	.|.	0.24914|0.24914	N|N	0.992024|0.992024	.|P;B	.|0.43231	.|0.801;0.216	.|B;B	.|0.37451	.|0.25;0.143	T|T	0.23583|0.23583	-1.0184|-1.0184	5|9	0.87932|0.21014	D|T	0|0.42	0.0098|0.0098	18.3327|18.3327	0.90276|0.90276	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|50;50	.|P09132;Q05D77	.|SRP19_HUMAN;.	L|E	24|50	.|ENSP00000424870:Q50E;ENSP00000282999:Q50E	ENSP00000425562:F24L|ENSP00000282999:Q50E	F|Q	+|+	3|1	2|0	SRP19|SRP19	112228083|112228083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	2.688000|2.688000	0.46984|0.46984	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	TTC|CAA	SRP19	-	pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19		0.343	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP19	HGNC	protein_coding	OTTHUMT00000250737.3	C	NM_003135		112200184	+1	no_errors	ENST00000505459	ensembl	human	known	70_37	missense	SNP	1.000	G
SRPK2	6733	genome.wustl.edu	37	7	104909303	104909303	+	5'UTR	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:104909303C>T	ENST00000357311.3	-	0	159				SRPK2_ENST00000489828.1_5'UTR|SRPK2_ENST00000393651.3_Intron	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GCAGCTCAATCTTCTGCTTGA	0.388																																																	0													96.0	87.0	90.0					7																	104909303		2203	4300	6503	SO:0001623	5_prime_UTR_variant	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000357311.3:c.-13G>A	7.37:g.104909303C>T				RNA	SNP	-	NULL	ENST00000357311.3	37	NULL	CCDS5735.1	7																																																																																			SRPK2	-	-		0.388	SRPK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348716.1	C	NM_182691		104909303	-1	no_errors	ENST00000462282	ensembl	human	known	70_37	rna	SNP	1.000	T
SRRM2	23524	genome.wustl.edu	37	16	2808478	2808478	+	Missense_Mutation	SNP	C	C	T	rs199835386		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:2808478C>T	ENST00000301740.8	+	5	1072	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	175					mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R175W(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TAGCCTTGTTCGGGAGTCTAG	0.388																																																	1	Substitution - Missense(1)	cervix(1)						C	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	171.0	176.0	174.0		523	4.2	0.9	16		174	1,8599	2.2+/-6.3	0,1,4299	yes	missense	SRRM2	NM_016333.3	101	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	175/2753	2808478	2,12994	2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.523C>T	16.37:g.2808478C>T	ENSP00000301740:p.Arg175Trp		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R175W	ENST00000301740.8	37	c.523	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	15.44	2.832789	0.50951	2.27E-4	1.16E-4	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.28255	1.62	5.15	4.18	0.49190	.	0.000000	0.47852	D	0.000203	T	0.41419	0.1158	L	0.39245	1.2	0.30248	N	0.794348	D	0.89917	1.0	D	0.66979	0.948	T	0.39840	-0.9594	10	0.87932	D	0	-4.1567	8.6627	0.34101	0.1727:0.6605:0.1668:0.0	.	175	Q9UQ35	SRRM2_HUMAN	W	175;175;79;140	ENSP00000301740:R175W	ENSP00000301740:R175W	R	+	1	2	SRRM2	2748479	0.638000	0.27225	0.903000	0.35520	0.943000	0.58893	1.363000	0.34159	1.127000	0.42034	0.650000	0.86243	CGG	SRRM2	-	NULL		0.388	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	C			2808478	+1	no_errors	ENST00000301740	ensembl	human	known	70_37	missense	SNP	0.919	T
SSR2	6746	genome.wustl.edu	37	1	155988144	155988144	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:155988144C>T	ENST00000295702.4	-	3	242	c.171G>A	c.(169-171)gtG>gtA	p.V57V	SSR2_ENST00000480567.1_Silent_p.V57V|SSR2_ENST00000496742.1_Intron|SSR2_ENST00000529008.1_Silent_p.V57V	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	57					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.V57V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGATAGTTCCACGTCTAATG	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											106.0	99.0	102.0					1																	155988144		2203	4300	6503	SO:0001819	synonymous_variant	6746			BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.171G>A	1.37:g.155988144C>T			B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Silent	SNP	pfam_TRAP_beta,pirsf_TRAP_beta	p.V57	ENST00000295702.4	37	c.171	CCDS1126.1	1																																																																																			SSR2	-	pfam_TRAP_beta,pirsf_TRAP_beta		0.458	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSR2	HGNC	protein_coding	OTTHUMT00000046172.2	C	NM_003145		155988144	-1	no_errors	ENST00000295702	ensembl	human	known	70_37	silent	SNP	1.000	T
ST13	6767	genome.wustl.edu	37	22	41226912	41226912	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:41226912C>G	ENST00000216218.3	-	9	1211	c.730G>C	c.(730-732)Gag>Cag	p.E244Q		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	244					chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)	p.E244Q(1)		cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						ATCTCTCGCTCTTCACGTTTT	0.408																																																	1	Substitution - Missense(1)	cervix(1)											75.0	72.0	73.0					22																	41226912		2203	4297	6500	SO:0001583	missense	6767				CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.730G>C	22.37:g.41226912C>G	ENSP00000216218:p.Glu244Gln		O14999|Q2TU77	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E244Q	ENST00000216218.3	37	c.730	CCDS14006.1	22	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020948	0.93462	.	.	ENSG00000100380	ENST00000216218	T	0.41400	1.0	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	M	0.87617	2.895	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.74979	-0.3479	10	0.56958	D	0.05	.	18.7044	0.91632	0.0:1.0:0.0:0.0	.	234;244	B4E0U6;P50502	.;F10A1_HUMAN	Q	244	ENSP00000216218:E244Q	ENSP00000216218:E244Q	E	-	1	0	ST13	39556858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.835000	0.75344	2.508000	0.84585	0.585000	0.79938	GAG	ST13	-	NULL		0.408	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST13	HGNC	protein_coding	OTTHUMT00000321759.1	C	NM_003932		41226912	-1	no_errors	ENST00000216218	ensembl	human	known	70_37	missense	SNP	1.000	G
ST6GALNAC2	10610	genome.wustl.edu	37	17	74570585	74570585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:74570585G>A	ENST00000225276.5	-	3	542	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	75					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.Q75*(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GGGTGCCGCTGAATGGCCAGG	0.662																																																	1	Substitution - Nonsense(1)	cervix(1)											35.0	35.0	35.0					17																	74570585		2203	4300	6503	SO:0001587	stop_gained	10610			U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.223C>T	17.37:g.74570585G>A	ENSP00000225276:p.Gln75*		Q12971	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Q75*	ENST00000225276.5	37	c.223	CCDS11747.1	17	.	.	.	.	.	.	.	.	.	.	g	22.9	4.347209	0.82022	.	.	ENSG00000070731	ENST00000225276	.	.	.	4.6	2.51	0.30379	.	0.189085	0.42821	D	0.000647	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8562	11.2553	0.49050	0.0:0.3572:0.6428:0.0	.	.	.	.	X	75	.	ENSP00000225276:Q75X	Q	-	1	0	ST6GALNAC2	72082180	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.006000	0.29847	0.444000	0.26612	-0.170000	0.13304	CAG	ST6GALNAC2	-	pirsf_Sialyl_trans		0.662	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC2	HGNC	protein_coding	OTTHUMT00000450650.1	G	NM_006456		74570585	-1	no_errors	ENST00000225276	ensembl	human	known	70_37	nonsense	SNP	0.002	A
ST6GALNAC1	55808	genome.wustl.edu	37	17	74625172	74625172	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:74625172C>T	ENST00000156626.7	-	2	952	c.753G>A	c.(751-753)ctG>ctA	p.L251L	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	251					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.L251L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGCGGCCTTCAGTCTTTGGT	0.547																																																	1	Substitution - coding silent(1)	cervix(1)											52.0	56.0	55.0					17																	74625172		2203	4300	6503	SO:0001819	synonymous_variant	55808			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.753G>A	17.37:g.74625172C>T			Q6UW90|Q9NSC6	Silent	SNP	pfam_Glyco_trans_29	p.L251	ENST00000156626.7	37	c.753	CCDS11748.1	17																																																																																			ST6GALNAC1	-	NULL		0.547	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	C	NM_018414		74625172	-1	no_errors	ENST00000156626	ensembl	human	known	70_37	silent	SNP	0.034	T
ST7	7982	genome.wustl.edu	37	7	116593810	116593810	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:116593810C>G	ENST00000393446.2	+	1	454				ST7_ENST00000265437.5_Intron|ST7-OT4_ENST00000397751.1_5'Flank|ST7_ENST00000323984.3_Intron|ST7-OT4_ENST00000397750.3_5'Flank|ST7-AS1_ENST00000456775.1_RNA|ST7_ENST00000393449.1_Intron|ST7_ENST00000393451.3_Intron			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TAGTGCAACTcgcgcggggcc	0.756																																																	0																																										SO:0001627	intron_variant	93653			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.151+65C>G	7.37:g.116593810C>G			A8K137|B4DRQ2	RNA	SNP	-	NULL	ENST00000393446.2	37	NULL		7																																																																																			ST7-AS1	-	-		0.756	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	ST7-AS1	HGNC	protein_coding	OTTHUMT00000319687.1	C	NM_021908		116593810	-1	no_errors	ENST00000456775	ensembl	human	known	70_37	rna	SNP	0.994	G
STAB2	55576	genome.wustl.edu	37	12	104131462	104131462	+	Silent	SNP	C	C	T	rs189453513	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:104131462C>T	ENST00000388887.2	+	53	5805	c.5601C>T	c.(5599-5601)ctC>ctT	p.L1867L		NM_017564.9	NP_060034.9			stabilin 2									p.L1867L(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCGGGAGCTCTTGTTTGACC	0.488																																																	1	Substitution - coding silent(1)	cervix(1)											93.0	92.0	93.0					12																	104131462		2203	4300	6503	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5601C>T	12.37:g.104131462C>T				Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.L1867	ENST00000388887.2	37	c.5601	CCDS31888.1	12																																																																																			STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.488	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	C			104131462	+1	no_errors	ENST00000388887	ensembl	human	known	70_37	silent	SNP	0.056	T
STARD4	134429	genome.wustl.edu	37	5	110835787	110835787	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:110835787C>G	ENST00000296632.3	-	6	549	c.415G>C	c.(415-417)Gat>Cat	p.D139H	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	139	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.D139H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTCTTTTCATCCCAGTCAAGA	0.333																																																	1	Substitution - Missense(1)	cervix(1)											57.0	55.0	56.0					5																	110835787		2202	4300	6502	SO:0001583	missense	134429			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.415G>C	5.37:g.110835787C>G	ENSP00000296632:p.Asp139His		Q86TN9	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.D139H	ENST00000296632.3	37	c.415	CCDS4104.1	5	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693401	0.30052	.	.	ENSG00000164211	ENST00000296632;ENST00000505803	T;T	0.48201	0.82;0.82	5.69	3.37	0.38596	Lipid-binding START (2);START-like domain (1);	0.498441	0.22806	N	0.055409	T	0.26268	0.0641	N	0.03608	-0.345	0.80722	D	1	B	0.27192	0.171	B	0.38842	0.283	T	0.07009	-1.0795	10	0.35671	T	0.21	-1.2754	4.6926	0.12788	0.0:0.4967:0.0:0.5033	.	139	Q96DR4	STAR4_HUMAN	H	139	ENSP00000296632:D139H;ENSP00000427478:D139H	ENSP00000296632:D139H	D	-	1	0	STARD4	110863686	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.348000	0.52209	1.003000	0.39130	-0.302000	0.09304	GAT	STARD4	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.333	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD4	HGNC	protein_coding	OTTHUMT00000250720.1	C	NM_139164		110835787	-1	no_errors	ENST00000296632	ensembl	human	known	70_37	missense	SNP	0.996	G
STK32B	55351	genome.wustl.edu	37	4	5458578	5458578	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:5458578C>T	ENST00000282908.5	+	8	1133	c.711C>T	c.(709-711)ctC>ctT	p.L237L	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Silent_p.L190L|RN7SKP275_ENST00000364626.1_RNA|STK32B_ENST00000512636.1_Silent_p.L160L	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.L237L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ATGAAATCCTCAACATGTTCA	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											114.0	86.0	95.0					4																	5458578		2203	4300	6503	SO:0001819	synonymous_variant	55351			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.711C>T	4.37:g.5458578C>T				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.L237	ENST00000282908.5	37	c.711	CCDS3380.1	4																																																																																			STK32B	-	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		0.572	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32B	HGNC	protein_coding	OTTHUMT00000206854.4	C	NM_018401		5458578	+1	no_errors	ENST00000282908	ensembl	human	known	70_37	silent	SNP	0.973	T
STK33	65975	genome.wustl.edu	37	11	8494730	8494730	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:8494730C>G	ENST00000447869.1	-	2	1237	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	STK33_ENST00000396673.1_Missense_Mutation_p.E107Q|STK33_ENST00000315204.1_Missense_Mutation_p.E107Q|STK33_ENST00000358872.3_Intron|STK33_ENST00000534493.1_Missense_Mutation_p.E66Q|STK33_ENST00000396672.1_Missense_Mutation_p.E107Q			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	107					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E107Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GCTCCATTCTCAATCCTTATG	0.398																																																	2	Substitution - Missense(2)	cervix(2)											178.0	171.0	173.0					11																	8494730		2201	4296	6497	SO:0001583	missense	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.319G>C	11.37:g.8494730C>G	ENSP00000416750:p.Glu107Gln		Q658S6|Q8NEF5	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.E107Q	ENST00000447869.1	37	c.319	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499749	0.44455	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;D;D;D	0.82893	1.97;1.97;1.97;1.97;1.97;-0.56;-1.66;-1.66;-1.66	5.41	4.48	0.54585	Protein kinase-like domain (1);	0.574452	0.18343	N	0.144109	T	0.70736	0.3258	N	0.14661	0.345	0.27344	N	0.956432	B	0.31125	0.309	B	0.29942	0.109	T	0.63198	-0.6691	10	0.40728	T	0.16	.	13.7548	0.62930	0.0:0.8447:0.1553:0.0	.	107	Q9BYT3	STK33_HUMAN	Q	107;107;107;107;66;57;66;66;107	ENSP00000416750:E107Q;ENSP00000320754:E107Q;ENSP00000379905:E107Q;ENSP00000379906:E107Q;ENSP00000436418:E66Q;ENSP00000436905:E57Q;ENSP00000391362:E66Q;ENSP00000411510:E66Q;ENSP00000403599:E107Q	ENSP00000320754:E107Q	E	-	1	0	STK33	8451306	1.000000	0.71417	0.937000	0.37676	0.743000	0.42351	3.422000	0.52749	1.247000	0.43917	0.585000	0.79938	GAG	STK33	-	superfamily_Kinase-like_dom		0.398	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	C	NM_030906		8494730	-1	no_errors	ENST00000315204	ensembl	human	known	70_37	missense	SNP	0.997	G
STK36	27148	genome.wustl.edu	37	2	219566632	219566632	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:219566632C>G	ENST00000295709.3	+	27	4127	c.3848C>G	c.(3847-3849)tCt>tGt	p.S1283C	STK36_ENST00000392105.3_Missense_Mutation_p.S1262C|STK36_ENST00000392106.2_Missense_Mutation_p.S1262C|STK36_ENST00000440309.1_Missense_Mutation_p.S1283C	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.S1283C(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCCTTGCTCTCTCTGGGGAAT	0.522																																																	1	Substitution - Missense(1)	cervix(1)											111.0	94.0	100.0					2																	219566632		2203	4300	6503	SO:0001583	missense	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3848C>G	2.37:g.219566632C>G	ENSP00000295709:p.Ser1283Cys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1283C	ENST00000295709.3	37	c.3848	CCDS2421.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.41|18.41	3.617242|3.617242	0.66672|0.66672	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000431040|ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	.|T;T;T;T	.|0.72615	.|-0.65;-0.66;-0.67;-0.65	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Armadillo-type fold (1);	.|0.000000	.|0.43110	.|D	.|0.000607	T|T	0.75451|0.75451	0.3851|0.3851	L|L	0.47716|0.47716	1.5|1.5	0.19300|0.19300	N|N	0.999971|0.999971	.|P;D;D	.|0.58620	.|0.938;0.979;0.983	.|P;P;P	.|0.53593	.|0.541;0.73;0.62	T|T	0.70026|0.70026	-0.4985|-0.4985	5|10	.|0.62326	.|D	.|0.03	-5.8768|-5.8768	17.6706|17.6706	0.88216|0.88216	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1262;1262;1283	.|A8MU99;Q9NRP7-2;Q9NRP7	.|.;.;STK36_HUMAN	V|C	476|1283;1262;1262;1283	.|ENSP00000295709:S1283C;ENSP00000375955:S1262C;ENSP00000375954:S1262C;ENSP00000394095:S1283C	.|ENSP00000295709:S1283C	L|S	+|+	1|2	0|0	STK36|STK36	219274876|219274876	0.806000|0.806000	0.28996|0.28996	0.969000|0.969000	0.41365|0.41365	0.662000|0.662000	0.39071|0.39071	3.347000|3.347000	0.52200|0.52200	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTC|TCT	STK36	-	superfamily_ARM-type_fold		0.522	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	C			219566632	+1	no_errors	ENST00000295709	ensembl	human	known	70_37	missense	SNP	0.158	G
STRIP1	85369	genome.wustl.edu	37	1	110585728	110585728	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:110585728G>C	ENST00000369795.3	+	9	926	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	STRIP1_ENST00000369796.1_Missense_Mutation_p.E207Q	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	302					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.E302Q(1)									AGGCGGCTTTGAGGAGCTGCA	0.582																																																	1	Substitution - Missense(1)	cervix(1)											41.0	40.0	40.0					1																	110585728		2203	4299	6502	SO:0001583	missense	85369			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.904G>C	1.37:g.110585728G>C	ENSP00000358810:p.Glu302Gln		Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.E302Q	ENST00000369795.3	37	c.904	CCDS30798.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.089488	0.94149	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.48201	0.83;0.82	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	L	0.52364	1.645	0.80722	D	1	D;B	0.55800	0.973;0.359	P;B	0.56916	0.809;0.425	T	0.47381	-0.9122	10	0.48119	T	0.1	-31.7867	20.3409	0.98764	0.0:0.0:1.0:0.0	.	207;302	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	Q	207;302	ENSP00000358811:E207Q;ENSP00000358810:E302Q	ENSP00000358810:E302Q	E	+	1	0	FAM40A	110387251	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.441000	0.97557	2.814000	0.96858	0.655000	0.94253	GAG	STRIP1	-	pfam_N1221		0.582	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP1	HGNC	protein_coding	OTTHUMT00000032213.1	G	NM_033088		110585728	+1	no_errors	ENST00000369795	ensembl	human	known	70_37	missense	SNP	1.000	C
SULT1B1	27284	genome.wustl.edu	37	4	70620485	70620485	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:70620485C>T	ENST00000310613.3	-	3	477	c.180G>A	c.(178-180)atG>atA	p.M60I		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	60					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.M60I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CATTTAGAATCATGTCTATAA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											101.0	108.0	105.0					4																	70620485		2203	4294	6497	SO:0001583	missense	27284			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.180G>A	4.37:g.70620485C>T	ENSP00000308770:p.Met60Ile		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.M60I	ENST00000310613.3	37	c.180	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636746	0.47049	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	D;D;D	0.82619	-1.63;-1.63;-1.63	4.96	4.96	0.65561	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000005	D	0.86830	0.6027	M	0.89715	3.055	0.47778	D	0.999511	B	0.19200	0.034	B	0.23852	0.049	D	0.86163	0.1595	10	0.66056	D	0.02	.	16.0762	0.80969	0.0:1.0:0.0:0.0	.	60	O43704	ST1B1_HUMAN	I	60;60;41	ENSP00000308770:M60I;ENSP00000425464:M60I;ENSP00000427536:M41I	ENSP00000308770:M60I	M	-	3	0	SULT1B1	70655074	0.841000	0.29509	0.606000	0.28943	0.167000	0.22549	0.859000	0.27858	2.484000	0.83849	0.460000	0.39030	ATG	SULT1B1	-	pfam_Sulfotransferase_dom		0.348	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	HGNC	protein_coding	OTTHUMT00000251563.2	C	NM_014465		70620485	-1	no_errors	ENST00000310613	ensembl	human	known	70_37	missense	SNP	0.993	T
SULT2B1	6820	genome.wustl.edu	37	19	49100097	49100097	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:49100097G>A	ENST00000201586.2	+	6	925	c.747G>A	c.(745-747)atG>atA	p.M249I	SULT2B1_ENST00000323090.4_Missense_Mutation_p.M234I|SULT2B1_ENST00000594274.1_3'UTR	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	249					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)	p.M249I(1)|p.M234I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCAGCGCCATGAAGGCCAACA	0.652																																																	2	Substitution - Missense(2)	cervix(2)											94.0	62.0	73.0					19																	49100097		2203	4300	6503	SO:0001583	missense	6820			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.747G>A	19.37:g.49100097G>A	ENSP00000201586:p.Met249Ile		O00205|O75814	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.M249I	ENST00000201586.2	37	c.747	CCDS12723.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241481	0.79912	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	T;T	0.02525	4.26;4.26	4.29	4.29	0.51040	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000002	T	0.22475	0.0542	H	0.94345	3.525	0.43191	D	0.995021	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.21415	-1.0246	10	0.87932	D	0	.	14.6719	0.68951	0.0:0.0:1.0:0.0	.	234;249	O00204-2;O00204	.;ST2B1_HUMAN	I	249;234	ENSP00000201586:M249I;ENSP00000312880:M234I	ENSP00000201586:M249I	M	+	3	0	SULT2B1	53791909	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	6.298000	0.72763	2.108000	0.64289	0.555000	0.69702	ATG	SULT2B1	-	pfam_Sulfotransferase_dom		0.652	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT2B1	HGNC	protein_coding	OTTHUMT00000466140.1	G	NM_004605		49100097	+1	no_errors	ENST00000201586	ensembl	human	known	70_37	missense	SNP	1.000	A
SUSD4	55061	genome.wustl.edu	37	1	223396808	223396808	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:223396808C>G	ENST00000343846.3	-	7	1860	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H	SUSD4_ENST00000494793.2_Missense_Mutation_p.Q409H|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.Q249H|SUSD4_ENST00000366878.4_Missense_Mutation_p.Q409H|SUSD4_ENST00000484758.2_Missense_Mutation_p.Q340H			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	409						integral component of membrane (GO:0016021)		p.Q409H(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CTGGGGGGCTCTGGTCGTCCA	0.642																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											24.0	29.0	27.0					1																	223396808		2056	4163	6219	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1227G>C	1.37:g.223396808C>G	ENSP00000344219:p.Gln409His		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Splice_Site	SNP	-	NULL	ENST00000343846.3	37	c.NULL	CCDS41471.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.89|19.89	3.911543|3.911543	0.72983|0.72983	.|.	.|.	ENSG00000143502|ENSG00000143502	ENST00000271787|ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	.|T;T;T	.|0.35421	.|1.31;1.31;1.41	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.47455	.|D	.|0.000233	.|T	.|0.43897	.|0.1268	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|P	.|0.49961	.|0.93	.|P	.|0.50440	.|0.641	.|T	.|0.41360	.|-0.9513	.|10	.|0.72032	.|D	.|0.01	.|-8.1942	13.9587|13.9587	0.64166|0.64166	0.0:0.8479:0.1521:0.0|0.0:0.8479:0.1521:0.0	.|.	.|409	.|Q5VX71	.|SUSD4_HUMAN	.|H	-1|409;409;340;249	.|ENSP00000344219:Q409H;ENSP00000355843:Q409H;ENSP00000399288:Q249H	.|ENSP00000344219:Q409H	.|Q	-|-	.|3	.|2	SUSD4|SUSD4	221463431|221463431	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	2.846000|2.846000	0.48262|0.48262	2.405000|2.405000	0.81733|0.81733	0.655000|0.655000	0.94253|0.94253	.|CAG	SUSD4	-	-		0.642	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	C	NM_017982		223396808	-1	no_errors	ENST00000483818	ensembl	human	known	70_37	splice_site	SNP	1.000	G
SUSD4	55061	genome.wustl.edu	37	1	223441956	223441956	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:223441956C>G	ENST00000343846.3	-	3	1056	c.423G>C	c.(421-423)gaG>gaC	p.E141D	SUSD4_ENST00000344029.6_Missense_Mutation_p.E141D|SUSD4_ENST00000494793.2_Missense_Mutation_p.E141D|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.E141D|SUSD4_ENST00000484758.2_Missense_Mutation_p.E70D			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	141	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.E141D(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGATTAGCTTCTCTCCATGTC	0.388																																																	2	Substitution - Missense(2)	cervix(2)											224.0	188.0	200.0					1																	223441956		2203	4300	6503	SO:0001583	missense	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.423G>C	1.37:g.223441956C>G	ENSP00000344219:p.Glu141Asp		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E141D	ENST00000343846.3	37	c.423	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.244141	0.01481	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029	T;T;T	0.65364	-0.15;-0.15;-0.15	5.91	-9.19	0.00685	Complement control module (2);Sushi/SCR/CCP (3);	0.411080	0.20689	N	0.087484	T	0.16727	0.0402	N	0.01048	-1.04	0.80722	D	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.09377	0.002;0.004;0.0	T	0.37150	-0.9718	10	0.08381	T	0.77	-11.5909	3.8767	0.09059	0.2577:0.2961:0.3524:0.0939	.	70;141;141	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	D	141;141;70;141;141	ENSP00000344219:E141D;ENSP00000355843:E141D;ENSP00000339926:E141D	ENSP00000271787:E141D	E	-	3	2	SUSD4	221508579	0.255000	0.24002	0.064000	0.19789	0.309000	0.27889	-0.429000	0.06982	-1.651000	0.01504	-1.474000	0.01003	GAG	SUSD4	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.388	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	C	NM_017982		223441956	-1	no_errors	ENST00000343846	ensembl	human	known	70_37	missense	SNP	0.227	G
SV2C	22987	genome.wustl.edu	37	5	75581692	75581692	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:75581692C>T	ENST00000502798.2	+	6	1576	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	SV2C_ENST00000322285.7_Silent_p.F378F|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	378					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.F378F(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AGAAGGTCTTCACGGTGAGTC	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											68.0	74.0	72.0					5																	75581692		2025	4201	6226	SO:0001819	synonymous_variant	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1134C>T	5.37:g.75581692C>T			Q496K1|Q9UPU8	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.F378	ENST00000502798.2	37	c.1134	CCDS43331.1	5																																																																																			SV2C	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.428	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	C			75581692	+1	no_errors	ENST00000502798	ensembl	human	known	70_37	silent	SNP	1.000	T
SVEP1	79987	genome.wustl.edu	37	9	113170526	113170526	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:113170526C>G	ENST00000401783.2	-	38	7690	c.7354G>C	c.(7354-7356)Gat>Cat	p.D2452H	SVEP1_ENST00000297826.5_Missense_Mutation_p.D378H|SVEP1_ENST00000374469.1_Missense_Mutation_p.D2429H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2452	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.D2455H(1)|p.D2455N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTTGCACATCAATGATTCCA	0.502																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											62.0	60.0	61.0					9																	113170526		1934	4140	6074	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7354G>C	9.37:g.113170526C>G	ENSP00000384917:p.Asp2452His		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.D2452H	ENST00000401783.2	37	c.7354	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857620	0.17178	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.64618	-0.11;-0.11;-0.11	5.85	4.93	0.64822	Complement control module (2);Sushi/SCR/CCP (3);	0.043776	0.85682	N	0.000000	T	0.54240	0.1846	L	0.35487	1.065	0.80722	D	1	B	0.30281	0.275	B	0.33196	0.159	T	0.50499	-0.8821	10	0.30854	T	0.27	.	16.6234	0.84935	0.0:0.8656:0.1344:0.0	.	2452	Q4LDE5	SVEP1_HUMAN	H	2452;2429;378;124	ENSP00000384917:D2452H;ENSP00000363593:D2429H;ENSP00000297826:D378H	ENSP00000297826:D378H	D	-	1	0	SVEP1	112210347	1.000000	0.71417	0.677000	0.29947	0.302000	0.27658	5.949000	0.70257	1.436000	0.47453	0.655000	0.94253	GAT	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113170526	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	1.000	G
SVEP1	79987	genome.wustl.edu	37	9	113261352	113261352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:113261352C>T	ENST00000401783.2	-	7	1986	c.1650G>A	c.(1648-1650)tgG>tgA	p.W550*	SVEP1_ENST00000302728.8_Nonsense_Mutation_p.W550*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.W527*|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W527*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	550	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.W550*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCCGACATTCCATTTTCCAG	0.423																																																	1	Substitution - Nonsense(1)	cervix(1)											59.0	56.0	57.0					9																	113261352		1936	4153	6089	SO:0001587	stop_gained	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1650G>A	9.37:g.113261352C>T	ENSP00000384917:p.Trp550*		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.W550*	ENST00000401783.2	37	c.1650	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.347333	0.99143	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5816	0.91172	0.0:1.0:0.0:0.0	.	.	.	.	X	550;527;550;527	.	ENSP00000304118:W550X	W	-	3	0	SVEP1	112301173	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.599000	0.67592	2.696000	0.92011	0.655000	0.94253	TGG	SVEP1	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.423	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113261352	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SWSAP1	126074	genome.wustl.edu	37	19	11486627	11486627	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:11486627C>T	ENST00000312423.2	+	2	684	c.625C>T	c.(625-627)Ccg>Tcg	p.P209S	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	209					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)	p.P209S(1)									GATGATCGCTCCGTGGCCCAC	0.622																																																	1	Substitution - Missense(1)	cervix(1)											19.0	22.0	21.0					19																	11486627		2198	4290	6488	SO:0001583	missense	126074			AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.625C>T	19.37:g.11486627C>T	ENSP00000310008:p.Pro209Ser		Q8NAM1	Missense_Mutation	SNP	NULL	p.P209S	ENST00000312423.2	37	c.625	CCDS12259.1	19	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136397	0.37728	.	.	ENSG00000173928	ENST00000312423	T	0.39592	1.07	5.43	0.936	0.19488	.	1.225170	0.05750	N	0.602880	T	0.30324	0.0761	L	0.29908	0.895	0.09310	N	1	B	0.18013	0.025	B	0.14578	0.011	T	0.30707	-0.9969	10	0.59425	D	0.04	-6.1463	4.4909	0.11813	0.1572:0.5919:0.0:0.2509	.	209	Q6NVH7	CS039_HUMAN	S	209	ENSP00000310008:P209S	ENSP00000310008:P209S	P	+	1	0	C19orf39	11347627	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.216000	0.17585	0.263000	0.21812	0.655000	0.94253	CCG	SWSAP1	-	NULL		0.622	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWSAP1	HGNC	protein_coding	OTTHUMT00000458789.1	C	NM_175871		11486627	+1	no_errors	ENST00000312423	ensembl	human	known	70_37	missense	SNP	0.012	T
SYN1	6853	genome.wustl.edu	37	X	47435781	47435781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:47435781C>T	ENST00000295987.7	-	8	1129	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	SYN1_ENST00000340666.4_Nonsense_Mutation_p.W335*	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	335	C; actin-binding and synaptic-vesicle binding.				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)	p.W335*(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						TATTGGTCTTCCAGTTCCCTG	0.617																																																	2	Substitution - Nonsense(2)	cervix(2)											77.0	64.0	69.0					X																	47435781		2203	4300	6503	SO:0001587	stop_gained	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.1005G>A	X.37:g.47435781C>T	ENSP00000295987:p.Trp335*		B1AJQ1|O75825|Q5H9A9	Nonsense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.W335*	ENST00000295987.7	37	c.1005	CCDS14280.1	X	.	.	.	.	.	.	.	.	.	.	c	33	5.219099	0.95104	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	.	.	.	4.09	4.09	0.47781	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5281	12.8445	0.57821	0.0:1.0:0.0:0.0	.	.	.	.	X	335	.	ENSP00000295987:W335X	W	-	3	0	SYN1	47320725	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	7.248000	0.78268	1.879000	0.54435	0.540000	0.68198	TGG	SYN1	-	pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type,prints_Synapsin		0.617	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYN1	HGNC	protein_coding	OTTHUMT00000056445.1	C	NM_006950		47435781	-1	no_errors	ENST00000295987	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SYNC	81493	genome.wustl.edu	37	1	33147407	33147407	+	3'UTR	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:33147407G>A	ENST00000409190.3	-	0	1951				SYNC_ENST00000373484.3_Silent_p.F471F|RBBP4_ENST00000373493.5_3'UTR	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein						intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTTTGCTAAGAAGTTTTTTG	0.393																																																	0													125.0	111.0	116.0					1																	33147407		2203	4298	6501	SO:0001624	3_prime_UTR_variant	81493			AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.*44C>T	1.37:g.33147407G>A			B4DNK8|B4DY58|C9IY41	Silent	SNP	pfam_F	p.F471	ENST00000409190.3	37	c.1413	CCDS367.2	1																																																																																			SYNC	-	NULL		0.393	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNC	HGNC	protein_coding	OTTHUMT00000022129.3	G	NM_030786		33147407	-1	no_errors	ENST00000373484	ensembl	human	known	70_37	silent	SNP	0.080	A
SYNE1	23345	genome.wustl.edu	37	6	152783910	152783910	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:152783910G>C	ENST00000367255.5	-	20	2814	c.2213C>G	c.(2212-2214)tCt>tGt	p.S738C	SYNE1_ENST00000423061.1_Missense_Mutation_p.S745C|SYNE1_ENST00000265368.4_Missense_Mutation_p.S738C|SYNE1_ENST00000341594.5_Missense_Mutation_p.S745C|SYNE1_ENST00000367253.4_Missense_Mutation_p.S738C|SYNE1_ENST00000495090.2_Missense_Mutation_p.S305C|SYNE1_ENST00000413186.2_Missense_Mutation_p.S738C|SYNE1_ENST00000448038.1_Missense_Mutation_p.S745C|SYNE1_ENST00000466159.2_Missense_Mutation_p.S738C|SYNE1_ENST00000367248.3_Missense_Mutation_p.S728C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	738					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S738C(2)|p.S745C(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCATAAAAGAGACTTCTAA	0.403										HNSCC(10;0.0054)																																							3	Substitution - Missense(3)	cervix(3)											99.0	98.0	99.0					6																	152783910		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2213C>G	6.37:g.152783910G>C	ENSP00000356224:p.Ser738Cys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S738C	ENST00000367255.5	37	c.2213	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797123	0.90538	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159	T;T;T;T;T;D;D;D;T;D	0.90844	0.41;0.4;0.32;0.4;0.58;-2.38;-2.52;-2.52;2.01;-2.74	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000019	D	0.94555	0.8246	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.999;0.996;1.0;0.999;0.999;1.0	D	0.94353	0.7581	10	0.72032	D	0.01	.	19.9336	0.97129	0.0:0.0:1.0:0.0	.	721;738;738;305;728;738;738;745	B3W695;Q8NF91;F5H4Q0;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.;.	C	738;745;738;745;745;738;728;738;305;738	ENSP00000356224:S738C;ENSP00000396024:S745C;ENSP00000265368:S738C;ENSP00000390975:S745C;ENSP00000341887:S745C;ENSP00000356222:S738C;ENSP00000356217:S728C;ENSP00000414510:S738C;ENSP00000438508:S305C;ENSP00000446021:S738C	ENSP00000265368:S738C	S	-	2	0	SYNE1	152825603	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.378000	0.97191	2.717000	0.92951	0.563000	0.77884	TCT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152783910	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	C
SYNE2	23224	genome.wustl.edu	37	14	64518990	64518990	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:64518990G>A	ENST00000344113.4	+	48	8571	c.8359G>A	c.(8359-8361)Gaa>Aaa	p.E2787K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E2820K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E2787K|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2787					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)	p.E2787K(1)		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)		ATCGTTGGCTGAAGAGGTCAA	0.433																																																	1	Substitution - Missense(1)	cervix(1)											131.0	123.0	126.0					14																	64518990		1951	4146	6097	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.8359G>A	14.37:g.64518990G>A	ENSP00000341781:p.Glu2787Lys		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.E2787K	ENST00000344113.4	37	c.8359	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	8.651	0.898362	0.17686	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.35789	1.29;1.29;1.29	5.27	3.46	0.39613	.	0.493114	0.18555	N	0.137808	T	0.18593	0.0446	N	0.17082	0.46	0.21897	N	0.99949	B;B	0.14438	0.006;0.01	B;B	0.14023	0.004;0.01	T	0.21930	-1.0231	10	0.18710	T	0.47	.	5.2098	0.15310	0.2318:0.0:0.6237:0.1446	.	2787;2787	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	K	2787;2787;2820;2820	ENSP00000350719:E2787K;ENSP00000341781:E2787K;ENSP00000452570:E2820K	ENSP00000261678:E2820K	E	+	1	0	SYNE2	63588743	0.027000	0.19231	0.283000	0.24790	0.983000	0.72400	0.192000	0.17096	0.634000	0.30469	0.313000	0.20887	GAA	SYNE2	-	smart_Spectrin/alpha-actinin		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64518990	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.079	A
SYNE2	23224	genome.wustl.edu	37	14	64519002	64519002	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:64519002G>T	ENST00000344113.4	+	48	8583	c.8371G>T	c.(8371-8373)Gat>Tat	p.D2791Y	SYNE2_ENST00000554584.1_Missense_Mutation_p.D2824Y|SYNE2_ENST00000358025.3_Missense_Mutation_p.D2791Y|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2791					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)	p.D2791Y(1)		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)		AGAGGTCAAAGATAAGGTTCC	0.418																																																	1	Substitution - Missense(1)	cervix(1)											121.0	113.0	115.0					14																	64519002		1933	4134	6067	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.8371G>T	14.37:g.64519002G>T	ENSP00000341781:p.Asp2791Tyr		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.D2791Y	ENST00000344113.4	37	c.8371	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374343	0.24857	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.35605	1.3;1.3;1.3	5.27	3.45	0.39498	.	0.934652	0.08884	N	0.879540	T	0.23532	0.0569	N	0.19112	0.55	0.18873	N	0.999989	P;P	0.39624	0.553;0.681	B;B	0.36289	0.11;0.221	T	0.14309	-1.0477	10	0.66056	D	0.02	.	6.571	0.22539	0.1689:0.191:0.6401:0.0	.	2791;2791	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Y	2791;2791;2824;2824	ENSP00000350719:D2791Y;ENSP00000341781:D2791Y;ENSP00000452570:D2824Y	ENSP00000261678:D2824Y	D	+	1	0	SYNE2	63588755	0.076000	0.21285	0.037000	0.18230	0.966000	0.64601	1.387000	0.34430	0.619000	0.30197	0.313000	0.20887	GAT	SYNE2	-	smart_Spectrin/alpha-actinin		0.418	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64519002	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.001	T
SYNE2	23224	genome.wustl.edu	37	14	64564841	64564841	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:64564841G>C	ENST00000344113.4	+	62	12495	c.12283G>C	c.(12283-12285)Gag>Cag	p.E4095Q	MIR548H1_ENST00000408610.1_RNA|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4128Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E480Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E729Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4095Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E480Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4095					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)	p.E4095Q(1)		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)		TGGAGTGGCAGAGAGGGATGC	0.498																																																	1	Substitution - Missense(1)	cervix(1)											136.0	147.0	143.0					14																	64564841		2203	4300	6503	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.12283G>C	14.37:g.64564841G>C	ENSP00000341781:p.Glu4095Gln		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.E4095Q	ENST00000344113.4	37	c.12283	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101293	0.37048	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.58358	0.78;4.08;0.78;0.34;4.13;4.08	5.78	4.89	0.63831	.	0.231769	0.31123	N	0.008209	T	0.41166	0.1147	L	0.29908	0.895	0.30306	N	0.788971	B;P;B;B	0.44877	0.435;0.845;0.261;0.378	B;B;B;B	0.41860	0.264;0.368;0.101;0.204	T	0.44636	-0.9315	10	0.40728	T	0.16	.	10.5438	0.45047	0.0889:0.0:0.9111:0.0	.	480;4129;4095;4095	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	Q	4095;480;4095;4128;4128;729;480	ENSP00000350719:E4095Q;ENSP00000349969:E480Q;ENSP00000341781:E4095Q;ENSP00000452570:E4128Q;ENSP00000450831:E729Q;ENSP00000378249:E480Q	ENSP00000261678:E4128Q	E	+	1	0	SYNE2	63634594	0.982000	0.34865	0.064000	0.19789	0.002000	0.02628	3.839000	0.55835	1.451000	0.47736	0.585000	0.79938	GAG	SYNE2	-	NULL		0.498	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64564841	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.100	C
SYNE2	23224	genome.wustl.edu	37	14	64565537	64565537	+	Missense_Mutation	SNP	G	G	A	rs145874555		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:64565537G>A	ENST00000344113.4	+	63	12591	c.12379G>A	c.(12379-12381)Gat>Aat	p.D4127N	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.D4160N|SYNE2_ENST00000394768.2_Missense_Mutation_p.D512N|SYNE2_ENST00000555002.1_Missense_Mutation_p.D761N|SYNE2_ENST00000358025.3_Missense_Mutation_p.D4127N|SYNE2_ENST00000357395.3_Missense_Mutation_p.D512N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4127					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)	p.D4127N(1)		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)		CGTGAAGAGCGATGTAAGGGA	0.398																																																	1	Substitution - Missense(1)	cervix(1)						G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	128.0	133.0	132.0		12379,12379	4.6	1.0	14	dbSNP_134	132	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	SYNE2	NM_015180.4,NM_182914.2	23,23	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign	4127/6886,4127/6908	64565537	4,13002	2203	4300	6503	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.12379G>A	14.37:g.64565537G>A	ENSP00000341781:p.Asp4127Asn		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.D4127N	ENST00000344113.4	37	c.12379	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	7.286	0.610079	0.14066	2.27E-4	3.49E-4	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.56444	0.83;4.13;0.83;0.46;4.18;4.13	5.52	4.63	0.57726	.	0.269718	0.29417	N	0.012209	T	0.31295	0.0792	N	0.08118	0	0.80722	D	1	B;B;B;B	0.12013	0.002;0.005;0.005;0.003	B;B;B;B	0.08055	0.002;0.001;0.003;0.001	T	0.09100	-1.0690	10	0.37606	T	0.19	.	10.8372	0.46694	0.0882:0.0:0.9118:0.0	.	512;4161;4127;4127	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	N	4127;512;4127;4160;4160;761;512;19	ENSP00000350719:D4127N;ENSP00000349969:D512N;ENSP00000341781:D4127N;ENSP00000452570:D4160N;ENSP00000450831:D761N;ENSP00000378249:D512N	ENSP00000261678:D4160N	D	+	1	0	SYNE2	63635290	0.994000	0.37717	0.996000	0.52242	0.016000	0.09150	1.851000	0.39338	1.478000	0.48253	-0.137000	0.14449	GAT	SYNE2	-	NULL		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64565537	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	A
SYNE2	23224	genome.wustl.edu	37	14	64608744	64608744	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:64608744G>A	ENST00000344113.4	+	82	15456	c.15244G>A	c.(15244-15246)Gaa>Aaa	p.E5082K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4999K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1467K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1716K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E5082K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E1467K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5082					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)	p.E5082K(1)		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)		AACTTCAGATGAAGACTCCGT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											92.0	85.0	87.0					14																	64608744		2203	4300	6503	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.15244G>A	14.37:g.64608744G>A	ENSP00000341781:p.Glu5082Lys		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.E5082K	ENST00000344113.4	37	c.15244	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301291	0.23650	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.81	4.92	0.64577	.	0.114349	0.37955	N	0.001863	T	0.40094	0.1103	L	0.52905	1.665	0.80722	D	1	B;B;B;B	0.19583	0.016;0.037;0.009;0.013	B;B;B;B	0.19666	0.026;0.016;0.022;0.024	T	0.21724	-1.0237	10	0.20519	T	0.43	.	9.0104	0.36137	0.2193:0.0:0.7807:0.0	.	1467;4999;5082;5082	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	K	5082;1467;5082;4999;5005;1716;1467	ENSP00000350719:E5082K;ENSP00000349969:E1467K;ENSP00000341781:E5082K;ENSP00000452570:E4999K;ENSP00000450831:E1716K;ENSP00000378249:E1467K	ENSP00000261678:E5005K	E	+	1	0	SYNE2	63678497	1.000000	0.71417	0.111000	0.21465	0.047000	0.14425	4.395000	0.59678	1.453000	0.47775	0.563000	0.77884	GAA	SYNE2	-	smart_Spectrin/alpha-actinin		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64608744	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.934	A
SYNGAP1	8831	genome.wustl.edu	37	6	33402938	33402938	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:33402938G>A	ENST00000418600.2	+	6	620	c.519G>A	c.(517-519)ctG>ctA	p.L173L	SYNGAP1_ENST00000428982.2_Silent_p.L114L|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.L173L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	173	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.L173L(1)|p.L158L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GGGCCCGGCTGATGCAAAGCT	0.473																																																	2	Substitution - coding silent(2)	cervix(2)											99.0	95.0	96.0					6																	33402938		2203	4300	6503	SO:0001819	synonymous_variant	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.519G>A	6.37:g.33402938G>A			A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.L173	ENST00000418600.2	37	c.519	CCDS34434.2	6																																																																																			SYNGAP1	-	smart_Pleckstrin_homology		0.473	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	G	XM_166407		33402938	+1	no_errors	ENST00000418600	ensembl	human	known	70_37	silent	SNP	1.000	A
SYS1	90196	genome.wustl.edu	37	20	43995671	43995671	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:43995671C>T	ENST00000243918.5	+	4	678	c.387C>T	c.(385-387)ctC>ctT	p.L129L	SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000372727.1_Silent_p.L129L|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000414310.1_Silent_p.L108L	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein	129					protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.L129L(1)		cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GCATTGCACTCATGGCTGTCA	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											127.0	112.0	117.0					20																	43995671		2203	4300	6503	SO:0001819	synonymous_variant	90196			AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"""chromosome 20 open reading frame 169"", ""SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"""	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.387C>T	20.37:g.43995671C>T			C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	Silent	SNP	pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1	p.L129	ENST00000243918.5	37	c.387	CCDS13351.1	20																																																																																			SYS1	-	pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1		0.567	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYS1	HGNC	protein_coding	OTTHUMT00000079453.2	C	NM_033542		43995671	+1	no_errors	ENST00000243918	ensembl	human	known	70_37	silent	SNP	1.000	T
SYT4	6860	genome.wustl.edu	37	18	40851809	40851809	+	Intron	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:40851809G>C	ENST00000255224.3	-	3	1218				SYT4_ENST00000590752.1_Intron|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV						exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGCAGAAAGAGAAATGTGATA	0.328																																					NSCLC(85;81 1419 2855 22820 35912)												0													98.0	96.0	96.0					18																	40851809		2203	4300	6503	SO:0001627	intron_variant	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.850-12C>G	18.37:g.40851809G>C			B4DEU3|Q9P2K4	RNA	SNP	-	NULL	ENST00000255224.3	37	NULL	CCDS11922.1	18																																																																																			SYT4	-	-		0.328	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	G	NM_020783		40851809	-1	no_errors	ENST00000589479	ensembl	human	known	70_37	rna	SNP	0.000	C
SZT2	23334	genome.wustl.edu	37	1	43886618	43886618	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:43886618C>G	ENST00000562955.1	+	10	1460	c.1460C>G	c.(1459-1461)aCc>aGc	p.T487S	SZT2_ENST00000372442.1_5'Flank	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	487					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.T487S(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTGTATCGTACCCATGTTATC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											262.0	219.0	232.0					1																	43886618		876	1991	2867	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.1460C>G	1.37:g.43886618C>G	ENSP00000457168:p.Thr487Ser		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.T487S	ENST00000562955.1	37	c.1460	CCDS30694.2	1																																																																																			SZT2	-	NULL		0.502	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	C	NM_015284		43886618	+1	no_errors	ENST00000562955	ensembl	human	known	70_37	missense	SNP	0.999	G
TAAR5	9038	genome.wustl.edu	37	6	132910460	132910460	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:132910460G>A	ENST00000258034.2	-	1	417	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	122					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.I122I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AGAGATGGAAGATGGAGGTGA	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											127.0	135.0	132.0					6																	132910460		2203	4300	6503	SO:0001819	synonymous_variant	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.366C>T	6.37:g.132910460G>A			D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.I122	ENST00000258034.2	37	c.366	CCDS5156.1	6																																																																																			TAAR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.572	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR5	HGNC	protein_coding	OTTHUMT00000042257.1	G	NM_003967		132910460	-1	no_errors	ENST00000258034	ensembl	human	known	70_37	silent	SNP	0.999	A
TAF4	6874	genome.wustl.edu	37	20	60575694	60575694	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:60575694G>C	ENST00000252996.4	-	10	2569	c.2570C>G	c.(2569-2571)tCt>tGt	p.S857C		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	857					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S857C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CACCAATTCAGAGTTCGTGGC	0.443																																																	1	Substitution - Missense(1)	cervix(1)											151.0	143.0	145.0					20																	60575694		2203	4300	6503	SO:0001583	missense	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2570C>G	20.37:g.60575694G>C	ENSP00000252996:p.Ser857Cys		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.S857C	ENST00000252996.4	37	c.2570	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354444	0.61293	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.29917	1.57;1.55	5.05	4.1	0.47936	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61608	-0.7028	10	0.87932	D	0	-10.9112	13.4623	0.61233	0.0763:0.0:0.9237:0.0	.	857	O00268	TAF4_HUMAN	C	857;721	ENSP00000252996:S857C;ENSP00000399091:S721C	ENSP00000252996:S857C	S	-	2	0	TAF4	60009089	1.000000	0.71417	0.886000	0.34754	0.386000	0.30323	9.449000	0.97603	1.111000	0.41721	-0.258000	0.10820	TCT	TAF4	-	pfam_TAF4		0.443	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	G	NM_003185		60575694	-1	no_errors	ENST00000252996	ensembl	human	known	70_37	missense	SNP	1.000	C
TANC1	85461	genome.wustl.edu	37	2	160086183	160086183	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:160086183G>C	ENST00000263635.6	+	27	4483	c.4246G>C	c.(4246-4248)Gag>Cag	p.E1416Q	TANC1_ENST00000454300.1_Missense_Mutation_p.E1310Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1416					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.E1416Q(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CGTAGAAGAGGAGTGCAAACA	0.562																																																	1	Substitution - Missense(1)	cervix(1)											49.0	57.0	54.0					2																	160086183		2021	4176	6197	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4246G>C	2.37:g.160086183G>C	ENSP00000263635:p.Glu1416Gln		C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E1416Q	ENST00000263635.6	37	c.4246	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.088147	0.94100	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.73897	-0.79;-0.79	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85881	0.5800	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83850	0.0262	9	.	.	.	.	20.3125	0.98645	0.0:0.0:1.0:0.0	.	1416	Q9C0D5	TANC1_HUMAN	Q	1310;1416	ENSP00000396339:E1310Q;ENSP00000263635:E1416Q	.	E	+	1	0	TANC1	159794429	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	9.824000	0.99380	2.806000	0.96561	0.655000	0.94253	GAG	TANC1	-	NULL		0.562	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	G			160086183	+1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	1.000	C
TANC1	85461	genome.wustl.edu	37	2	160086255	160086255	+	Missense_Mutation	SNP	G	G	A	rs200295160		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:160086255G>A	ENST00000263635.6	+	27	4555	c.4318G>A	c.(4318-4320)Gag>Aag	p.E1440K	TANC1_ENST00000454300.1_Missense_Mutation_p.E1334K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1440					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.E1440K(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAACGACTCCGAGAACGAAGA	0.542																																																	1	Substitution - Missense(1)	cervix(1)						G	,LYS/GLU	1,4049		0,1,2024	84.0	97.0	93.0		,4318	5.0	0.2	2		93	0,8350		0,0,4175	yes	utr-3,missense	TANC1	NM_001145909.1,NM_033394.2	,56	0,1,6199	AA,AG,GG		0.0,0.0247,0.0081	,benign	,1440/1862	160086255	1,12399	2025	4175	6200	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4318G>A	2.37:g.160086255G>A	ENSP00000263635:p.Glu1440Lys		C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E1440K	ENST00000263635.6	37	c.4318	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495326	0.26774	2.47E-4	0.0	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70164	-0.46;-0.46	5.92	5.04	0.67666	.	0.242234	0.41823	D	0.000806	T	0.46521	0.1397	N	0.08118	0	0.28200	N	0.927395	B	0.21688	0.059	B	0.14023	0.01	T	0.21415	-1.0246	9	.	.	.	.	16.524	0.84326	0.0:0.0:0.8681:0.1319	.	1440	Q9C0D5	TANC1_HUMAN	K	1334;1440	ENSP00000396339:E1334K;ENSP00000263635:E1440K	.	E	+	1	0	TANC1	159794501	1.000000	0.71417	0.219000	0.23793	0.088000	0.18126	7.726000	0.84824	1.497000	0.48584	0.655000	0.94253	GAG	TANC1	-	NULL		0.542	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	G			160086255	+1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	0.992	A
TAOK1	57551	genome.wustl.edu	37	17	27869933	27869933	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:27869933C>G	ENST00000261716.3	+	20	3418	c.2899C>G	c.(2899-2901)Cag>Gag	p.Q967E	TAOK1_ENST00000536202.1_Missense_Mutation_p.Q819E	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	967					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.Q967E(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CAATAGCCCCCAGGCTCTGAG	0.587																																																	2	Substitution - Missense(2)	cervix(2)											34.0	25.0	28.0					17																	27869933		2203	4300	6503	SO:0001583	missense	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2899C>G	17.37:g.27869933C>G	ENSP00000261716:p.Gln967Glu		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q967E	ENST00000261716.3	37	c.2899	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874968	0.91664	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.75260	-0.85;-0.92	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.63428	1.95	0.31769	N	0.632388	B;P	0.43633	0.066;0.813	B;B	0.38562	0.021;0.276	T	0.77728	-0.2479	10	0.40728	T	0.16	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	819;967	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	E	967;819	ENSP00000261716:Q967E;ENSP00000438819:Q819E	ENSP00000261716:Q967E	Q	+	1	0	TAOK1	24894059	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.816000	0.96949	0.561000	0.74099	CAG	TAOK1	-	NULL		0.587	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	C	NM_020791		27869933	+1	no_errors	ENST00000261716	ensembl	human	known	70_37	missense	SNP	1.000	G
TARDBP	23435	genome.wustl.edu	37	1	11073843	11073843	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:11073843C>T	ENST00000240185.3	+	2	173	c.59C>T	c.(58-60)tCg>tTg	p.S20L	TARDBP_ENST00000439080.2_5'UTR|TARDBP_ENST00000315091.3_Missense_Mutation_p.S20L	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	20					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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.S20L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	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;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GAAATACCATCGGAAGACGAT	0.468																																																	1	Substitution - Missense(1)	cervix(1)											49.0	43.0	45.0					1																	11073843		2203	4300	6503	SO:0001583	missense	23435			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.59C>T	1.37:g.11073843C>T	ENSP00000240185:p.Ser20Leu		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S20L	ENST00000240185.3	37	c.59	CCDS122.1	1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259541	0.59321	.	.	ENSG00000120948	ENST00000240185;ENST00000315091	D;D	0.83914	-1.78;-1.78	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	N	0.22421	0.69	0.80722	D	1	B	0.16802	0.019	B	0.12837	0.008	T	0.67933	-0.5542	10	0.18710	T	0.47	-11.559	19.0046	0.92844	0.0:1.0:0.0:0.0	.	20	Q13148	TADBP_HUMAN	L	20	ENSP00000240185:S20L;ENSP00000313129:S20L	ENSP00000240185:S20L	S	+	2	0	TARDBP	10996430	1.000000	0.71417	0.940000	0.37924	0.976000	0.68499	5.817000	0.69229	2.481000	0.83766	0.650000	0.86243	TCG	TARDBP	-	NULL		0.468	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARDBP	HGNC	protein_coding	OTTHUMT00000006063.1	C	NM_007375		11073843	+1	no_errors	ENST00000240185	ensembl	human	known	70_37	missense	SNP	1.000	T
TARS2	80222	genome.wustl.edu	37	1	150463113	150463113	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:150463113G>A	ENST00000369064.3	+	4	458	c.424G>A	c.(424-426)Gca>Aca	p.A142T	TARS2_ENST00000606933.1_Missense_Mutation_p.A142T|TARS2_ENST00000369054.2_Missense_Mutation_p.A142T|TARS2_ENST00000438568.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	142					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.A142T(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCTGGGGGCAGCAGCTGAACA	0.478																																																	1	Substitution - Missense(1)	cervix(1)											99.0	97.0	98.0					1																	150463113		2203	4300	6503	SO:0001583	missense	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.424G>A	1.37:g.150463113G>A	ENSP00000358060:p.Ala142Thr		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.A142T	ENST00000369064.3	37	c.424	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113988	0.77210	.	.	ENSG00000143374	ENST00000369054;ENST00000369064	T;T	0.24151	1.87;1.87	5.36	5.36	0.76844	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.063956	0.64402	D	0.000006	T	0.50820	0.1638	H	0.95365	3.66	0.80722	D	1	D;B	0.76494	0.999;0.034	D;B	0.66084	0.941;0.018	T	0.62599	-0.6820	10	0.09590	T	0.72	-17.6236	18.8867	0.92381	0.0:0.0:1.0:0.0	.	142;142	Q9H9V2;Q9BW92	.;SYTM_HUMAN	T	142	ENSP00000358050:A142T;ENSP00000358060:A142T	ENSP00000358050:A142T	A	+	1	0	TARS2	148729737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.915000	0.92740	2.774000	0.95407	0.655000	0.94253	GCA	TARS2	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa		0.478	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	G	NM_025150		150463113	+1	no_errors	ENST00000369064	ensembl	human	known	70_37	missense	SNP	1.000	A
TBC1D10A	83874	genome.wustl.edu	37	22	30722721	30722721	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:30722721G>A	ENST00000215790.7	-	1	314	c.150C>T	c.(148-150)ttC>ttT	p.F50F	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Silent_p.F50F	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	50					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.F50F(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGCGCTCGGCGAAGCCGTTGG	0.711																																																	1	Substitution - coding silent(1)	cervix(1)											23.0	29.0	27.0					22																	30722721		2202	4291	6493	SO:0001819	synonymous_variant	83874			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.150C>T	22.37:g.30722721G>A			B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F50	ENST00000215790.7	37	c.150	CCDS13874.1	22																																																																																			TBC1D10A	-	NULL		0.711	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBC1D10A	HGNC	protein_coding	OTTHUMT00000320550.1	G	NM_031937		30722721	-1	no_errors	ENST00000215790	ensembl	human	known	70_37	silent	SNP	0.999	A
TBC1D2B	23102	genome.wustl.edu	37	15	78305568	78305568	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:78305568G>C	ENST00000300584.3	-	9	1866	c.1867C>G	c.(1867-1869)Ctc>Gtc	p.L623V	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L623V	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	623							Rab GTPase activator activity (GO:0005097)	p.L623V(2)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTGAGGTAGAGAGTCTTCAGA	0.448																																																	2	Substitution - Missense(2)	cervix(2)											73.0	72.0	72.0					15																	78305568		2196	4293	6489	SO:0001583	missense	23102			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1867C>G	15.37:g.78305568G>C	ENSP00000300584:p.Leu623Val		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.L623V	ENST00000300584.3	37	c.1867	CCDS45314.1	15	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849816	0.32699	.	.	ENSG00000167202	ENST00000409931;ENST00000300584	T;T	0.09538	2.97;2.98	5.47	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.19565	0.0470	L	0.44542	1.39	0.58432	D	0.999999	D;B;D	0.76494	0.999;0.216;0.999	D;B;D	0.78314	0.962;0.108;0.991	T	0.10042	-1.0647	10	0.11182	T	0.66	.	9.7382	0.40401	0.1562:0.0:0.8438:0.0	.	623;75;623	Q9UPU7-2;Q9UPU7-3;Q9UPU7	.;.;TBD2B_HUMAN	V	623	ENSP00000387165:L623V;ENSP00000300584:L623V	ENSP00000300584:L623V	L	-	1	0	TBC1D2B	76092623	0.998000	0.40836	0.074000	0.20217	0.128000	0.20619	2.676000	0.46883	1.444000	0.47605	0.655000	0.94253	CTC	TBC1D2B	-	NULL		0.448	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	G	NM_015079		78305568	-1	no_errors	ENST00000300584	ensembl	human	known	70_37	missense	SNP	0.968	C
TBX19	9095	genome.wustl.edu	37	1	168274320	168274320	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:168274320C>G	ENST00000367821.3	+	6	853	c.802C>G	c.(802-804)Ctg>Gtg	p.L268V		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	268					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L268V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGCCGCTCCTCTGCCTCTGCC	0.542																																																	1	Substitution - Missense(1)	cervix(1)											157.0	145.0	149.0					1																	168274320		2203	4300	6503	SO:0001583	missense	9095			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.802C>G	1.37:g.168274320C>G	ENSP00000356795:p.Leu268Val		Q52M53	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.L268V	ENST00000367821.3	37	c.802	CCDS1272.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.20|14.20	2.463829|2.463829	0.43736|0.43736	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821|ENST00000441464	D|.	0.95205|.	-3.64|.	5.89|5.89	-7.29|-7.29	0.01451|0.01451	.|.	0.097964|.	0.43260|.	D|.	0.000586|.	T|T	0.52008|0.52008	0.1708|0.1708	M|M	0.77313|0.77313	2.365|2.365	0.31732|.	N|.	0.636871|.	P|.	0.46987|.	0.888|.	B|.	0.34536|.	0.185|.	T|T	0.63404|0.63404	-0.6645|-0.6645	9|4	0.23891|.	T|.	0.37|.	.|.	15.6662|15.6662	0.77230|0.77230	0.0:0.2561:0.0:0.7439|0.0:0.2561:0.0:0.7439	.|.	268|.	O60806|.	TBX19_HUMAN|.	V|C	268|100	ENSP00000356795:L268V|.	ENSP00000356795:L268V|.	L|S	+|+	1|2	2|0	TBX19|TBX19	166540944|166540944	0.020000|0.020000	0.18652|0.18652	0.099000|0.099000	0.21106|0.21106	0.369000|0.369000	0.29798|0.29798	0.050000|0.050000	0.14120|0.14120	-1.382000|-1.382000	0.02109|0.02109	-0.291000|-0.291000	0.09656|0.09656	CTG|TCT	TBX19	-	NULL		0.542	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX19	HGNC	protein_coding	OTTHUMT00000083825.1	C	NM_005149		168274320	+1	no_errors	ENST00000367821	ensembl	human	known	70_37	missense	SNP	0.063	G
TBX20	57057	genome.wustl.edu	37	7	35284624	35284624	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:35284624G>C	ENST00000408931.3	-	4	1117	c.591C>G	c.(589-591)ctC>ctG	p.L197L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	197					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription factor activity (GO:0003700)	p.L197L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCATCTGTTTGAGTAGTTGCT	0.413																																																	2	Substitution - coding silent(2)	cervix(2)											169.0	138.0	148.0					7																	35284624		2203	4300	6503	SO:0001819	synonymous_variant	57057			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.591C>G	7.37:g.35284624G>C			A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	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.L197	ENST00000408931.3	37	c.591	CCDS43568.1	7																																																																																			TBX20	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.413	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	G	NM_020417		35284624	-1	no_errors	ENST00000408931	ensembl	human	known	70_37	silent	SNP	1.000	C
TCF21	6943	genome.wustl.edu	37	6	134210781	134210781	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:134210781C>T	ENST00000367882.4	+	1	506	c.246C>T	c.(244-246)aaC>aaT	p.N82N	RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.N82N|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|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)	p.N82N(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCCAGCGCAACGCCGCCAACG	0.701																																																	1	Substitution - coding silent(1)	cervix(1)											43.0	50.0	48.0					6																	134210781		2203	4299	6502	SO:0001819	synonymous_variant	6943			AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.246C>T	6.37:g.134210781C>T			E1P581|O43545|Q6ICV0|Q9BZ14	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.N82	ENST00000367882.4	37	c.246	CCDS5167.1	6																																																																																			TCF21	-	pfam_HLH_dom,superfamily_HLH_dom,pfscan_HLH_dom		0.701	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF21	HGNC	protein_coding	OTTHUMT00000042292.1	C	NM_198392		134210781	+1	no_errors	ENST00000237316	ensembl	human	known	70_37	silent	SNP	0.999	T
TCTN2	79867	genome.wustl.edu	37	12	124158229	124158229	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:124158229C>G	ENST00000303372.5	+	4	463	c.335C>G	c.(334-336)tCc>tGc	p.S112C	TCTN2_ENST00000426174.2_Missense_Mutation_p.S111C	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	112					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.S112C(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GAGACAGATTCCTTCTCAGAG	0.443																																																	1	Substitution - Missense(1)	cervix(1)											204.0	195.0	198.0					12																	124158229		2203	4300	6503	SO:0001583	missense	79867			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.335C>G	12.37:g.124158229C>G	ENSP00000304941:p.Ser112Cys		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	pfam_DUF1619	p.S112C	ENST00000303372.5	37	c.335	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104550	0.37145	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.83075	-1.68;-1.68	5.05	2.16	0.27623	.	0.361046	0.27311	N	0.019951	T	0.69726	0.3143	L	0.39397	1.21	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.55541	-0.8125	10	0.38643	T	0.18	-10.5493	2.4421	0.04497	0.1479:0.4909:0.2144:0.1468	.	111;112	A8K7Y8;Q96GX1	.;TECT2_HUMAN	C	111;112	ENSP00000395171:S111C;ENSP00000304941:S112C	ENSP00000304941:S112C	S	+	2	0	TCTN2	122724182	0.015000	0.18098	0.001000	0.08648	0.711000	0.40976	0.421000	0.21280	1.109000	0.41680	0.650000	0.86243	TCC	TCTN2	-	NULL		0.443	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	C	NM_024809		124158229	+1	no_errors	ENST00000303372	ensembl	human	known	70_37	missense	SNP	0.000	G
TCTN2	79867	genome.wustl.edu	37	12	124158264	124158264	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:124158264C>T	ENST00000303372.5	+	4	498	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	TCTN2_ENST00000426174.2_Silent_p.L123L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	124					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.L124L(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CCAGACCCTTCTGGTTTCAGC	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											220.0	207.0	212.0					12																	124158264		2203	4300	6503	SO:0001819	synonymous_variant	79867			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.370C>T	12.37:g.124158264C>T			A8K7Y8|B3KPW5|Q9H966	Silent	SNP	pfam_DUF1619	p.L124	ENST00000303372.5	37	c.370	CCDS9253.1	12																																																																																			TCTN2	-	NULL		0.478	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	C	NM_024809		124158264	+1	no_errors	ENST00000303372	ensembl	human	known	70_37	silent	SNP	0.964	T
TDGF1	6997	genome.wustl.edu	37	3	46620626	46620626	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:46620626G>C	ENST00000296145.5	+	2	810	c.77G>C	c.(76-78)gGa>gCa	p.G26A	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.G10A	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	26					activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.G26A(1)		cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTTGAACTGGGATTAGTTGCC	0.383																																																	1	Substitution - Missense(1)	cervix(1)											196.0	180.0	186.0					3																	46620626		2203	4300	6503	SO:0001583	missense	6997			M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.77G>C	3.37:g.46620626G>C	ENSP00000296145:p.Gly26Ala		Q8TCC1	Missense_Mutation	SNP	pfam_Cryptic/Cripto_CFC-dom,pirsf_Cripto_growth_factor,pfscan_EG-like_dom	p.G26A	ENST00000296145.5	37	c.77	CCDS2742.1	3	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930129	0.34096	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	T;T	0.68624	-0.27;-0.34	4.14	2.28	0.28536	.	0.431198	0.19993	N	0.101505	T	0.50820	0.1638	L	0.53249	1.67	0.26079	N	0.981112	P	0.42456	0.78	B	0.34931	0.192	T	0.37798	-0.9690	10	0.19147	T	0.46	.	6.2359	0.20762	0.2232:0.0:0.7768:0.0	.	26	P13385	TDGF1_HUMAN	A	10;26	ENSP00000446375:G10A;ENSP00000296145:G26A	ENSP00000296145:G26A	G	+	2	0	AC104304.1	46595630	0.815000	0.29118	0.883000	0.34634	0.786000	0.44442	0.620000	0.24403	0.647000	0.30713	0.655000	0.94253	GGA	TDGF1	-	pirsf_Cripto_growth_factor		0.383	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDGF1	HGNC	protein_coding	OTTHUMT00000257378.2	G	NM_003212		46620626	+1	no_errors	ENST00000296145	ensembl	human	known	70_37	missense	SNP	0.916	C
TECTA	7007	genome.wustl.edu	37	11	120989131	120989131	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:120989131G>A	ENST00000392793.1	+	7	1178	c.907G>A	c.(907-909)Gag>Aag	p.E303K	TECTA_ENST00000264037.2_Missense_Mutation_p.E303K			O75443	TECTA_HUMAN	tectorin alpha	303	VWFC.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.E303K(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGCCCCTACGAGGTGTGCGA	0.537																																																	1	Substitution - Missense(1)	cervix(1)											94.0	92.0	92.0					11																	120989131		2203	4299	6502	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.907G>A	11.37:g.120989131G>A	ENSP00000376543:p.Glu303Lys			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.E303K	ENST00000392793.1	37	c.907	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.590630	0.96590	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.64991	-0.13;-0.13	5.68	5.68	0.88126	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.81394	0.4813	M	0.80422	2.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.75484	0.986	T	0.82721	-0.0317	10	0.66056	D	0.02	.	19.7939	0.96471	0.0:0.0:1.0:0.0	.	303	O75443	TECTA_HUMAN	K	303	ENSP00000376543:E303K;ENSP00000264037:E303K	ENSP00000264037:E303K	E	+	1	0	TECTA	120494341	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	6.512000	0.73737	2.668000	0.90789	0.563000	0.77884	GAG	TECTA	-	smart_VWC_out		0.537	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	G	NM_005422		120989131	+1	no_errors	ENST00000264037	ensembl	human	known	70_37	missense	SNP	1.000	A
TEKT2	27285	genome.wustl.edu	37	1	36550776	36550776	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:36550776G>A	ENST00000207457.3	+	3	296	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	RP4-665N4.4_ENST00000446354.1_RNA	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	57					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.E57K(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATTTGGGATGAACATGACAA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											123.0	114.0	117.0					1																	36550776		2203	4300	6503	SO:0001583	missense	27285			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.169G>A	1.37:g.36550776G>A	ENSP00000207457:p.Glu57Lys		A6NIS6|O60638	Missense_Mutation	SNP	pfam_Tektin,superfamily_Prefoldin,prints_Tektin	p.E57K	ENST00000207457.3	37	c.169	CCDS401.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126589	0.77549	.	.	ENSG00000092850	ENST00000207457	T	0.02395	4.31	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	M	0.63843	1.955	0.80722	D	1	P	0.41102	0.738	B	0.40329	0.326	T	0.28586	-1.0039	10	0.38643	T	0.18	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	57	Q9UIF3	TEKT2_HUMAN	K	57	ENSP00000207457:E57K	ENSP00000207457:E57K	E	+	1	0	TEKT2	36323363	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.676000	0.84012	2.716000	0.92895	0.655000	0.94253	GAA	TEKT2	-	pfam_Tektin		0.532	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT2	HGNC	protein_coding	OTTHUMT00000020200.1	G	NM_014466		36550776	+1	no_errors	ENST00000207457	ensembl	human	known	70_37	missense	SNP	1.000	A
TENM1	10178	genome.wustl.edu	37	X	123538975	123538975	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:123538975G>A	ENST00000371130.3	-	26	5339	c.5276C>T	c.(5275-5277)tCa>tTa	p.S1759L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.S1766L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1759					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S1761L(1)									TCCGGGCAATGAGATGTTGCA	0.562																																																	1	Substitution - Missense(1)	cervix(1)											144.0	118.0	127.0					X																	123538975		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5276C>T	X.37:g.123538975G>A	ENSP00000360171:p.Ser1759Leu		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S1766L	ENST00000371130.3	37	c.5297	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711231	0.68730	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86097	-2.07;-2.03	5.63	5.63	0.86233	.	0.243792	0.41938	D	0.000781	D	0.82291	0.5005	L	0.59436	1.845	0.58432	D	0.999998	P;B;B	0.36282	0.546;0.361;0.411	B;B;B	0.26770	0.073;0.036;0.05	D	0.83497	0.0073	10	0.59425	D	0.04	.	18.7039	0.91630	0.0:0.0:1.0:0.0	.	1765;1766;1759	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	1759;1766	ENSP00000360171:S1759L;ENSP00000403954:S1766L	ENSP00000360171:S1759L	S	-	2	0	ODZ1	123366656	1.000000	0.71417	0.966000	0.40874	0.996000	0.88848	6.223000	0.72257	2.362000	0.80069	0.600000	0.82982	TCA	TENM1	-	NULL		0.562	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123538975	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	A
TENM2	57451	genome.wustl.edu	37	5	167489109	167489109	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:167489109G>A	ENST00000518659.1	+	7	1393	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	TENM2_ENST00000403607.2_Missense_Mutation_p.E285K|TENM2_ENST00000545108.1_Missense_Mutation_p.E452K|TENM2_ENST00000520394.1_Missense_Mutation_p.E220K|TENM2_ENST00000519204.1_Missense_Mutation_p.E331K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	452					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)	p.E285K(1)|p.E452K(1)|p.E331K(1)									TGGTGAAGCAGAAGTTGGTCG	0.448																																																	3	Substitution - Missense(3)	cervix(3)											85.0	85.0	85.0					5																	167489109		1853	4096	5949	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.1354G>A	5.37:g.167489109G>A	ENSP00000429430:p.Glu452Lys		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.E452K	ENST00000518659.1	37	c.1354		5	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861001	0.71949	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.63	4.76	0.60689	.	0.161689	0.53938	D	0.000059	T	0.37320	0.0999	M	0.66939	2.045	0.52099	D	0.999944	P;P;P	0.43542	0.81;0.587;0.721	P;B;P	0.47786	0.49;0.225;0.557	T	0.14337	-1.0476	10	0.41790	T	0.15	.	14.5185	0.67835	0.0702:0.0:0.9298:0.0	.	452;220;331	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	K	452;452;331;220;285	ENSP00000429430:E452K;ENSP00000438635:E452K;ENSP00000428964:E331K;ENSP00000427874:E220K;ENSP00000384905:E285K	ENSP00000384905:E285K	E	+	1	0	ODZ2	167421687	1.000000	0.71417	0.993000	0.49108	0.898000	0.52572	9.869000	0.99810	1.378000	0.46305	0.655000	0.94253	GAA	TENM2	-	NULL		0.448	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167489109	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	A
TENM2	57451	genome.wustl.edu	37	5	167671458	167671458	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:167671458G>A	ENST00000518659.1	+	26	5593	c.5554G>A	c.(5554-5556)Gat>Aat	p.D1852N	TENM2_ENST00000403607.2_Missense_Mutation_p.D1676N|TENM2_ENST00000545108.1_Missense_Mutation_p.D1851N|TENM2_ENST00000520394.1_Missense_Mutation_p.D1613N|TENM2_ENST00000519204.1_Missense_Mutation_p.D1731N	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1852					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)	p.D1685N(1)|p.D1731N(1)|p.D1852N(1)									CATTGACTATGATCGAAATAT	0.502																																																	3	Substitution - Missense(3)	cervix(3)											66.0	61.0	63.0					5																	167671458		1902	4129	6031	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.5554G>A	5.37:g.167671458G>A	ENSP00000429430:p.Asp1852Asn		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.D1852N	ENST00000518659.1	37	c.5554		5	.	.	.	.	.	.	.	.	.	.	G	32	5.132396	0.94473	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.93133	-2.68;-2.67;-2.82;-3.1;-3.17	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.96842	0.8969	M	0.83012	2.62	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.991	D	0.97048	0.9762	10	0.52906	T	0.07	.	18.1051	0.89517	0.0:0.0:1.0:0.0	.	1851;1852;1613	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	N	1852;1851;1731;1613;1676	ENSP00000429430:D1852N;ENSP00000438635:D1851N;ENSP00000428964:D1731N;ENSP00000427874:D1613N;ENSP00000384905:D1676N	ENSP00000384905:D1676N	D	+	1	0	ODZ2	167604036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.813000	0.99286	2.275000	0.75901	0.561000	0.74099	GAT	TENM2	-	superfamily_ConA-like_lec_gl_sf		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167671458	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	A
TENM3	55714	genome.wustl.edu	37	4	183664378	183664378	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:183664378C>T	ENST00000511685.1	+	19	3558	c.3435C>T	c.(3433-3435)gtC>gtT	p.V1145V	TENM3_ENST00000406950.2_Silent_p.V1145V|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1145					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V1145V(2)									AGCCTCCAGTCGTGAGTAGCA	0.483																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											68.0	69.0	68.0					4																	183664378		2006	4184	6190	SO:0001819	synonymous_variant	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3435C>T	4.37:g.183664378C>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V1145	ENST00000511685.1	37	c.3435	CCDS47165.1	4																																																																																			TENM3	-	NULL		0.483	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	C			183664378	+1	no_errors	ENST00000406950	ensembl	human	known	70_37	silent	SNP	0.000	T
TEX15	56154	genome.wustl.edu	37	8	30700686	30700686	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:30700686C>G	ENST00000256246.2	-	1	5922	c.5848G>C	c.(5848-5850)Gag>Cag	p.E1950Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1950					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E1950Q(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTATCCTCCTCAAGCCCAATA	0.333																																																	1	Substitution - Missense(1)	cervix(1)											63.0	64.0	64.0					8																	30700686		2201	4299	6500	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5848G>C	8.37:g.30700686C>G	ENSP00000256246:p.Glu1950Gln			Missense_Mutation	SNP	NULL	p.E1950Q	ENST00000256246.2	37	c.5848	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.276816	0.01410	.	.	ENSG00000133863	ENST00000256246	T	0.11495	2.77	5.73	-1.04	0.10068	.	0.742165	0.11891	N	0.519642	T	0.09335	0.0230	L	0.43152	1.355	0.09310	N	1	B	0.27882	0.192	B	0.30105	0.111	T	0.30357	-0.9981	10	0.87932	D	0	.	5.707	0.17913	0.0:0.3375:0.3938:0.2687	.	1950	Q9BXT5	TEX15_HUMAN	Q	1950	ENSP00000256246:E1950Q	ENSP00000256246:E1950Q	E	-	1	0	TEX15	30820228	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	-0.738000	0.04871	-0.549000	0.06191	-0.225000	0.12378	GAG	TEX15	-	NULL		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30700686	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.008	G
TEX15	56154	genome.wustl.edu	37	8	30701580	30701580	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:30701580C>G	ENST00000256246.2	-	1	5028	c.4954G>C	c.(4954-4956)Gaa>Caa	p.E1652Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1652					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E1652Q(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCTTTCTTTCAAAAGCTTCC	0.358																																																	1	Substitution - Missense(1)	cervix(1)											57.0	58.0	58.0					8																	30701580		2202	4299	6501	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4954G>C	8.37:g.30701580C>G	ENSP00000256246:p.Glu1652Gln			Missense_Mutation	SNP	NULL	p.E1652Q	ENST00000256246.2	37	c.4954	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135465	0.56828	.	.	ENSG00000133863	ENST00000256246	T	0.27104	1.69	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000009	T	0.42539	0.1207	M	0.63843	1.955	0.40991	D	0.98485	D	0.71674	0.998	D	0.62955	0.909	T	0.39583	-0.9607	10	0.87932	D	0	.	8.681	0.34209	0.0:0.7677:0.1534:0.0789	.	1652	Q9BXT5	TEX15_HUMAN	Q	1652	ENSP00000256246:E1652Q	ENSP00000256246:E1652Q	E	-	1	0	TEX15	30821122	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.529000	0.45632	2.795000	0.96236	0.655000	0.94253	GAA	TEX15	-	NULL		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30701580	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	1.000	G
TEX15	56154	genome.wustl.edu	37	8	30704421	30704421	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:30704421C>T	ENST00000256246.2	-	1	2187	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	705					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E705K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTCACAAATTCTTCACAAAGC	0.373																																																	1	Substitution - Missense(1)	cervix(1)											93.0	84.0	87.0					8																	30704421		2203	4299	6502	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2113G>A	8.37:g.30704421C>T	ENSP00000256246:p.Glu705Lys			Missense_Mutation	SNP	NULL	p.E705K	ENST00000256246.2	37	c.2113	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458393	0.84317	.	.	ENSG00000133863	ENST00000256246	T	0.23552	1.9	5.78	5.78	0.91487	.	0.303416	0.28176	N	0.016315	T	0.40297	0.1111	L	0.36672	1.1	0.29900	N	0.824446	D	0.71674	0.998	D	0.65233	0.933	T	0.29088	-1.0023	10	0.87932	D	0	.	15.5121	0.75793	0.0:1.0:0.0:0.0	.	705	Q9BXT5	TEX15_HUMAN	K	705	ENSP00000256246:E705K	ENSP00000256246:E705K	E	-	1	0	TEX15	30823963	0.926000	0.31397	0.329000	0.25429	0.002000	0.02628	2.902000	0.48703	2.731000	0.93534	0.655000	0.94253	GAA	TEX15	-	NULL		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30704421	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.557	T
TEX15	56154	genome.wustl.edu	37	8	30704944	30704944	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:30704944C>G	ENST00000256246.2	-	1	1664	c.1590G>C	c.(1588-1590)ttG>ttC	p.L530F	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	530					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.L530F(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTCAGAACTCAAAATTTCTA	0.313																																																	1	Substitution - Missense(1)	cervix(1)											59.0	60.0	59.0					8																	30704944		2200	4291	6491	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1590G>C	8.37:g.30704944C>G	ENSP00000256246:p.Leu530Phe			Missense_Mutation	SNP	NULL	p.L530F	ENST00000256246.2	37	c.1590	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673520	0.47781	.	.	ENSG00000133863	ENST00000256246	T	0.13901	2.55	5.49	-1.99	0.07457	.	0.637105	0.13052	N	0.417613	T	0.11537	0.0281	L	0.29908	0.895	0.09310	N	1	P	0.52061	0.95	P	0.51355	0.667	T	0.15407	-1.0438	10	0.87932	D	0	.	1.5853	0.02643	0.3852:0.3184:0.1149:0.1816	.	530	Q9BXT5	TEX15_HUMAN	F	530	ENSP00000256246:L530F	ENSP00000256246:L530F	L	-	3	2	TEX15	30824486	0.000000	0.05858	0.000000	0.03702	0.600000	0.36913	-0.095000	0.11077	-0.181000	0.10619	0.650000	0.86243	TTG	TEX15	-	NULL		0.313	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30704944	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.000	G
TFF3	7033	genome.wustl.edu	37	21	43735589	43735589	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:43735589G>A	ENST00000291525.10	-	1	117	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	TFF3_ENST00000489676.1_5'Flank|TFF3_ENST00000518498.1_5'UTR	NM_003226.3	NP_003217.3	Q07654	TFF3_HUMAN	trefoil factor 3 (intestinal)	0					defense response (GO:0006952)|digestion (GO:0007586)|response to peptide hormone (GO:0043434)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.P16S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTTGCTTGGGGAAGGCTCTCC	0.567																																																	1	Substitution - Missense(1)	cervix(1)											215.0	183.0	194.0					21																	43735589		2203	4300	6503	SO:0001583	missense	7033			AF432265	CCDS33565.1, CCDS33565.2	21q22.3	2006-05-16			ENSG00000160180	ENSG00000160180			11757	protein-coding gene	gene with protein product		600633				7718582, 9043862	Standard	NM_003226		Approved	HITF, ITF	uc002zav.3	Q07654	OTTHUMG00000086798	ENST00000291525.10:c.46C>T	21.37:g.43735589G>A	ENSP00000291525:p.Pro16Ser		E9PBB5|Q96NX0|Q9UDA5	Missense_Mutation	SNP	pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata	p.P16S	ENST00000291525.10	37	c.46		21	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055537	0.36277	.	.	ENSG00000160180	ENST00000291525	T	0.53857	0.6	3.33	0.192	0.15134	.	2.788870	0.02562	N	0.096855	T	0.33876	0.0878	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.08534	-1.0717	6	.	.	.	.	1.8676	0.03201	0.1227:0.202:0.4682:0.2071	.	.	.	.	S	16	ENSP00000291525:P16S	.	P	-	1	0	TFF3	42608658	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.583000	0.23849	-0.080000	0.12685	-0.251000	0.11542	CCC	TFF3	-	NULL		0.567	TFF3-201	KNOWN	basic	protein_coding	TFF3	HGNC	protein_coding		G	NM_003226		43735589	-1	no_errors	ENST00000291525	ensembl	human	known	70_37	missense	SNP	0.000	A
TGIF1	7050	genome.wustl.edu	37	18	3456381	3456381	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:3456381G>C	ENST00000330513.5	+	2	736	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	TGIF1_ENST00000577543.1_Missense_Mutation_p.E16Q|TGIF1_ENST00000407501.2_Missense_Mutation_p.E16Q|TGIF1_ENST00000472042.1_5'UTR|TGIF1_ENST00000548489.2_Missense_Mutation_p.E30Q|TGIF1_ENST00000345133.5_5'UTR|TGIF1_ENST00000551541.1_5'UTR|TGIF1_ENST00000343820.5_Missense_Mutation_p.E16Q|TGIF1_ENST00000400167.2_5'UTR|TGIF1_ENST00000401449.1_5'UTR|TGIF1_ENST00000405385.3_5'UTR|TGIF1_ENST00000551402.1_Missense_Mutation_p.E16Q	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	145					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E145Q(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CAGTGAGACTGAGGATGAGGA	0.502																																																	1	Substitution - Missense(1)	cervix(1)											378.0	366.0	370.0					18																	3456381		2203	4300	6503	SO:0001583	missense	7050			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.433G>C	18.37:g.3456381G>C	ENSP00000327959:p.Glu145Gln		A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	pfam_Homeobox_KN_domain,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E145Q	ENST00000330513.5	37	c.433	CCDS11834.1	18	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072752	0.55646	.	.	ENSG00000177426	ENST00000548489;ENST00000549253;ENST00000343820;ENST00000407501;ENST00000546979;ENST00000551402;ENST00000330513	T;T;T;T;T;T	0.73152	0.56;0.51;0.51;-0.72;0.73;0.58	5.73	5.73	0.89815	.	0.382752	0.31484	N	0.007576	T	0.81545	0.4845	L	0.49778	1.585	0.80722	D	1	D;B;B;B	0.89917	1.0;0.293;0.158;0.166	D;B;B;B	0.77004	0.989;0.052;0.107;0.108	T	0.79541	-0.1761	10	0.42905	T	0.14	-11.8939	19.8959	0.96958	0.0:0.0:1.0:0.0	.	16;145;16;30	F8W1J9;Q15583;Q15583-2;F8VZB6	.;TGIF1_HUMAN;.;.	Q	30;19;16;16;16;16;145	ENSP00000447747:E30Q;ENSP00000339631:E16Q;ENSP00000384133:E16Q;ENSP00000448934:E16Q;ENSP00000446944:E16Q;ENSP00000327959:E145Q	ENSP00000327959:E145Q	E	+	1	0	TGIF1	3446381	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	9.083000	0.94067	2.704000	0.92352	0.655000	0.94253	GAG	TGIF1	-	NULL		0.502	TGIF1-003	KNOWN	basic|CCDS	protein_coding	TGIF1	HGNC	protein_coding	OTTHUMT00000254368.4	G	NM_170695		3456381	+1	no_errors	ENST00000330513	ensembl	human	known	70_37	missense	SNP	1.000	C
THAP11	57215	genome.wustl.edu	37	16	67876870	67876870	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:67876870C>A	ENST00000303596.1	+	1	658	c.413C>A	c.(412-414)tCc>tAc	p.S138Y	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	138	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S138Y(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CCCTCTGCCTCCACTGCCCAG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											62.0	67.0	66.0					16																	67876870		2189	4293	6482	SO:0001583	missense	57215			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.413C>A	16.37:g.67876870C>A	ENSP00000304689:p.Ser138Tyr		A4UCT5|A8K002|O94795	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.S138Y	ENST00000303596.1	37	c.413	CCDS10847.1	16	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744170	0.30865	.	.	ENSG00000168286	ENST00000303596	T	0.55930	0.49	4.81	4.81	0.61882	Armadillo-like helical (1);	0.332633	0.27754	N	0.017991	T	0.46249	0.1383	L	0.39898	1.24	0.34486	D	0.704467	B	0.28512	0.214	B	0.28011	0.085	T	0.60510	-0.7249	10	0.62326	D	0.03	-18.2439	15.2426	0.73482	0.0:1.0:0.0:0.0	.	138	Q96EK4	THA11_HUMAN	Y	138	ENSP00000304689:S138Y	ENSP00000304689:S138Y	S	+	2	0	THAP11	66434371	0.164000	0.22935	1.000000	0.80357	0.458000	0.32498	-0.066000	0.11598	2.653000	0.90120	0.514000	0.50259	TCC	THAP11	-	NULL		0.632	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP11	HGNC	protein_coding	OTTHUMT00000268879.1	C	NM_020457		67876870	+1	no_errors	ENST00000303596	ensembl	human	known	70_37	missense	SNP	0.989	A
THAP3	90326	genome.wustl.edu	37	1	6688663	6688663	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:6688663G>A	ENST00000054650.4	+	3	337	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	THAP3_ENST00000377627.3_Missense_Mutation_p.R60Q|THAP3_ENST00000307896.6_Missense_Mutation_p.R60Q	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	60							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R60Q(2)		breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAGCACTTCCGGCCAGAGTGC	0.612																																																	2	Substitution - Missense(2)	cervix(2)											67.0	56.0	59.0					1																	6688663		2203	4300	6503	SO:0001583	missense	90326			BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.179G>A	1.37:g.6688663G>A	ENSP00000054650:p.Arg60Gln		Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.R60Q	ENST00000054650.4	37	c.179	CCDS55572.1	1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747822	0.30955	.	.	ENSG00000041988	ENST00000054650;ENST00000307896;ENST00000377627	D;D;D	0.96104	-3.91;-3.91;-3.91	5.01	2.86	0.33363	Zinc finger, C2CH-type (4);	0.856007	0.09684	N	0.769331	D	0.89431	0.6713	N	0.25144	0.715	0.09310	N	1	P;P;D	0.53151	0.948;0.948;0.958	B;B;B	0.42916	0.402;0.306;0.353	T	0.81602	-0.0858	10	0.21540	T	0.41	-9.5111	4.8889	0.13717	0.3147:0.0:0.6853:0.0	.	60;60;60	Q8WTV1-4;Q8WTV1-3;Q8WTV1	.;.;THAP3_HUMAN	Q	60	ENSP00000054650:R60Q;ENSP00000311537:R60Q;ENSP00000366854:R60Q	ENSP00000054650:R60Q	R	+	2	0	THAP3	6611250	0.016000	0.18221	0.175000	0.22980	0.323000	0.28346	1.452000	0.35156	1.107000	0.41642	-0.350000	0.07774	CGG	THAP3	-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH		0.612	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	THAP3	HGNC	protein_coding	OTTHUMT00000004203.1	G	NM_138350		6688663	+1	no_errors	ENST00000054650	ensembl	human	known	70_37	missense	SNP	0.018	A
THEMIS	387357	genome.wustl.edu	37	6	128150975	128150975	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:128150975G>A	ENST00000368248.2	-	3	503	c.355C>T	c.(355-357)Cat>Tat	p.H119Y	THEMIS_ENST00000537166.1_Missense_Mutation_p.H84Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.H119Y|THEMIS_ENST00000368250.1_Missense_Mutation_p.H40Y	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	119	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H119Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCCTTCTGATGATAGAAGCAA	0.388																																																	1	Substitution - Missense(1)	cervix(1)											96.0	96.0	96.0					6																	128150975		2203	4300	6503	SO:0001583	missense	387357			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.355C>T	6.37:g.128150975G>A	ENSP00000357231:p.His119Tyr		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	NULL	p.H119Y	ENST00000368248.2	37	c.355	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847568	0.32606	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	6.14	5.27	0.74061	.	0.159689	0.49916	D	0.000125	T	0.07458	0.0188	L	0.57536	1.79	0.26701	N	0.971165	B;P	0.39157	0.241;0.662	B;B	0.42138	0.046;0.377	T	0.20405	-1.0276	10	0.62326	D	0.03	-1.4936	6.0059	0.19547	0.1447:0.0:0.6046:0.2507	.	119;119	F5H1J9;Q8N1K5	.;THMS1_HUMAN	Y	40;119;119;84	ENSP00000357233:H40Y;ENSP00000439594:H119Y;ENSP00000357231:H119Y;ENSP00000439863:H84Y	ENSP00000357231:H119Y	H	-	1	0	THEMIS	128192668	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.922000	0.40045	1.623000	0.50342	0.650000	0.86243	CAT	THEMIS	-	NULL		0.388	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		G	NM_001010923		128150975	-1	no_errors	ENST00000543064	ensembl	human	known	70_37	missense	SNP	1.000	A
THNSL1	79896	genome.wustl.edu	37	10	25313422	25313422	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:25313422C>G	ENST00000524413.1	+	3	1617	c.1270C>G	c.(1270-1272)Cag>Gag	p.Q424E	THNSL1_ENST00000376356.4_Missense_Mutation_p.Q424E			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	424						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.Q424E(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AATTGGCAGTCAGAGAGAAAA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											105.0	108.0	107.0					10																	25313422		2203	4300	6503	SO:0001583	missense	79896			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1270C>G	10.37:g.25313422C>G	ENSP00000434887:p.Gln424Glu		B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	pfam_Shikimate_kinase,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,prints_Shikimate_kinase,tigrfam_Thr_synthase_like	p.Q424E	ENST00000524413.1	37	c.1270	CCDS7147.1	10	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513421	0.27123	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	D;D	0.96651	-4.08;-4.08	5.71	5.71	0.89125	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.197928	0.44902	D	0.000404	D	0.94182	0.8133	L	0.31120	0.905	0.39319	D	0.965216	P	0.49447	0.924	P	0.46510	0.519	D	0.92643	0.6126	10	0.16420	T	0.52	-17.3028	19.8635	0.96793	0.0:1.0:0.0:0.0	.	424	Q8IYQ7	THNS1_HUMAN	E	424	ENSP00000434887:Q424E;ENSP00000365534:Q424E	ENSP00000365534:Q424E	Q	+	1	0	THNSL1	25353428	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.202000	0.58446	2.700000	0.92200	0.650000	0.86243	CAG	THNSL1	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like		0.348	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	THNSL1	HGNC	protein_coding	OTTHUMT00000394913.1	C	NM_024838		25313422	+1	no_errors	ENST00000376356	ensembl	human	known	70_37	missense	SNP	1.000	G
THOC1	9984	genome.wustl.edu	37	18	246446	246446	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:246446C>G	ENST00000261600.6	-	11	803	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	266					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.E266Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GCTAAAACTTCTTCAGAATAC	0.308																																																	1	Substitution - Missense(1)	cervix(1)											41.0	42.0	41.0					18																	246446		1789	4041	5830	SO:0001583	missense	9984			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.796G>C	18.37:g.246446C>G	ENSP00000261600:p.Glu266Gln		B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	pfam_THO_THOC1,pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	p.E266Q	ENST00000261600.6	37	c.796	CCDS45820.1	18	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406851	0.83230	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.62723	1.935	0.80722	D	1	P;D	0.76494	0.902;0.999	P;D	0.72338	0.602;0.977	T	0.68526	-0.5385	9	0.15066	T	0.55	-16.0508	20.0784	0.97758	0.0:1.0:0.0:0.0	.	266;266	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	Q	266	.	ENSP00000261600:E266Q	E	-	1	0	THOC1	236446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.468000	0.80943	2.736000	0.93811	0.655000	0.94253	GAA	THOC1	-	pfam_THO_THOC1		0.308	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC1	HGNC	protein_coding	OTTHUMT00000440348.5	C	NM_005131		246446	-1	no_errors	ENST00000261600	ensembl	human	known	70_37	missense	SNP	1.000	G
THSD7A	221981	genome.wustl.edu	37	7	11446088	11446088	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:11446088C>T	ENST00000423059.4	-	22	4327	c.4076G>A	c.(4075-4077)gGa>gAa	p.G1359E	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1359	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1359E(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGTCCCTTCTCCACACTGGGC	0.418										HNSCC(18;0.044)																																							1	Substitution - Missense(1)	cervix(1)											55.0	53.0	54.0					7																	11446088		1902	4127	6029	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4076G>A	7.37:g.11446088C>T	ENSP00000406482:p.Gly1359Glu			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G1359E	ENST00000423059.4	37	c.4076	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729910	0.89390	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.70516	-0.49	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86184	0.1608	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1359	Q9UPZ6	THS7A_HUMAN	E	1359	ENSP00000406482:G1359E	ENSP00000262042:G1359E	G	-	2	0	THSD7A	11412613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.790000	0.85794	2.941000	0.99782	0.655000	0.94253	GGA	THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.418	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2		11446088	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	T
TIGD2	166815	genome.wustl.edu	37	4	90035089	90035089	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:90035089C>G	ENST00000317005.2	+	1	1122	c.964C>G	c.(964-966)Ctg>Gtg	p.L322V	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	322	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L322V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		tgtcacaagtctgattcaacc	0.408																																																	1	Substitution - Missense(1)	cervix(1)											44.0	44.0	44.0					4																	90035089		2202	4299	6501	SO:0001583	missense	166815			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.964C>G	4.37:g.90035089C>G	ENSP00000317170:p.Leu322Val			Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.L322V	ENST00000317005.2	37	c.964	CCDS3633.1	4	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916152	0.33815	.	.	ENSG00000180346	ENST00000317005	T	0.44482	0.92	4.49	2.72	0.32119	.	0.000000	0.33515	N	0.004834	T	0.38585	0.1046	L	0.42245	1.32	0.27160	N	0.961196	P	0.52842	0.956	P	0.52109	0.69	T	0.13845	-1.0494	10	0.19147	T	0.46	-3.1452	6.5503	0.22429	0.0:0.6992:0.0:0.3008	.	322	Q4W5G0	TIGD2_HUMAN	V	322	ENSP00000317170:L322V	ENSP00000317170:L322V	L	+	1	2	TIGD2	90254112	0.990000	0.36364	0.989000	0.46669	0.901000	0.52897	0.839000	0.27586	1.118000	0.41863	-0.262000	0.10625	CTG	TIGD2	-	pfam_DDE_SF_endonuclease_CENPB-like		0.408	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD2	HGNC	protein_coding	OTTHUMT00000253545.2	C	NM_145715		90035089	+1	no_errors	ENST00000317005	ensembl	human	known	70_37	missense	SNP	0.986	G
TIMELESS	8914	genome.wustl.edu	37	12	56815235	56815235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56815235G>C	ENST00000553532.1	-	23	2918	c.2768C>G	c.(2767-2769)tCa>tGa	p.S923*	TIMELESS_ENST00000229201.4_Nonsense_Mutation_p.S922*|TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.S420*					timeless circadian clock									p.S923*(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCGGGCCCGTGAGCGTTTGGC	0.478																																																	1	Substitution - Nonsense(1)	cervix(1)											140.0	140.0	140.0					12																	56815235		2203	4300	6503	SO:0001587	stop_gained	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2768C>G	12.37:g.56815235G>C	ENSP00000450607:p.Ser923*			Nonsense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.S923*	ENST00000553532.1	37	c.2768	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	G	41	8.800611	0.98958	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	.	.	.	5.29	4.34	0.51931	.	0.149414	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.0293	14.6558	0.68833	0.0:0.1465:0.8535:0.0	.	.	.	.	X	922;923;420	.	ENSP00000229201:S923X	S	-	2	0	TIMELESS	55101502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.010000	0.70753	2.653000	0.90120	0.555000	0.69702	TCA	TIMELESS	-	pfam_TIMELESS_C		0.478	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	G	NM_003920		56815235	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	nonsense	SNP	1.000	C
TIMELESS	8914	genome.wustl.edu	37	12	56822125	56822125	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56822125C>G	ENST00000553532.1	-	13	1623	c.1473G>C	c.(1471-1473)gaG>gaC	p.E491D	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E490D|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.E491D(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCTGGCATCTCTCATCAAACT	0.502																																																	1	Substitution - Missense(1)	cervix(1)											56.0	48.0	51.0					12																	56822125		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1473G>C	12.37:g.56822125C>G	ENSP00000450607:p.Glu491Asp			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E491D	ENST00000553532.1	37	c.1473	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329500	0.81690	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.07800	3.16;3.16	5.27	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.81112	2.525	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.72338	0.977;0.948	T	0.02829	-1.1105	10	0.35671	T	0.21	-20.0404	13.0087	0.58720	0.0:0.92:0.0:0.08	.	490;491	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	D	490;491	ENSP00000229201:E490D;ENSP00000450607:E491D	ENSP00000229201:E491D	E	-	3	2	TIMELESS	55108392	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	3.182000	0.50910	1.355000	0.45865	0.563000	0.77884	GAG	TIMELESS	-	NULL		0.502	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	C	NM_003920		56822125	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	1.000	G
TIMELESS	8914	genome.wustl.edu	37	12	56822160	56822160	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:56822160C>G	ENST00000553532.1	-	13	1588	c.1438G>C	c.(1438-1440)Gaa>Caa	p.E480Q	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E479Q|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.E480Q(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGGAATAGTTCTCGGTACTCC	0.463																																																	1	Substitution - Missense(1)	cervix(1)											47.0	41.0	43.0					12																	56822160		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1438G>C	12.37:g.56822160C>G	ENSP00000450607:p.Glu480Gln			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E480Q	ENST00000553532.1	37	c.1438	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.098208	0.94197	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.07567	3.18;3.18	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.03086	-1.1074	10	0.45353	T	0.12	-16.5343	18.034	0.89293	0.0:1.0:0.0:0.0	.	479;480	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	Q	479;480	ENSP00000229201:E479Q;ENSP00000450607:E480Q	ENSP00000229201:E480Q	E	-	1	0	TIMELESS	55108427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.961000	0.70356	2.636000	0.89361	0.563000	0.77884	GAA	TIMELESS	-	NULL		0.463	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	C	NM_003920		56822160	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	1.000	G
TIMM10	26519	genome.wustl.edu	37	11	57296203	57296203	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:57296203G>C	ENST00000257245.4	-	3	412	c.260C>G	c.(259-261)tCt>tGt	p.S87C	TIMM10_ENST00000525587.1_Missense_Mutation_p.S87C|TIMM10_ENST00000525158.1_Missense_Mutation_p.S87C	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10 homolog (yeast)	87					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.S87C(1)		cervix(1)|large_intestine(2)	3						TGCAGGCCCAGAGCTCTGCTG	0.522																																																	1	Substitution - Missense(1)	cervix(1)											134.0	119.0	124.0					11																	57296203		2201	4296	6497	SO:0001583	missense	26519			AF152354	CCDS7959.1	11q12.1-q12.3	2008-07-21	2001-11-28			ENSG00000134809			11814	protein-coding gene	gene with protein product		602251	"""translocase of inner mitochondrial membrane 10 (yeast) homolog"""			10552927	Standard	NM_012456		Approved	TIM10, TIM10A	uc001nkm.1	P62072		ENST00000257245.4:c.260C>G	11.37:g.57296203G>C	ENSP00000257245:p.Ser87Cys		A8K136|Q9WV99|Q9WVA0|Q9Y5J8	Missense_Mutation	SNP	pfam_Tim8/9/10/13_Znf-like,superfamily_Tim8/9/10/13_Znf-like	p.S87C	ENST00000257245.4	37	c.260	CCDS7959.1	11	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344919	0.41498	.	.	ENSG00000134809	ENST00000257245;ENST00000525587;ENST00000525158	T;T;T	0.50277	0.75;0.75;0.75	5.95	5.95	0.96441	.	0.263702	0.41823	D	0.000818	T	0.39545	0.1082	.	.	.	0.30937	N	0.726208	B	0.28760	0.221	B	0.27170	0.077	T	0.48163	-0.9059	9	0.54805	T	0.06	-16.1245	13.2242	0.59905	0.0731:0.0:0.9269:0.0	.	87	P62072	TIM10_HUMAN	C	87	ENSP00000257245:S87C;ENSP00000435678:S87C;ENSP00000433627:S87C	ENSP00000257245:S87C	S	-	2	0	TIMM10	57052779	0.997000	0.39634	1.000000	0.80357	0.680000	0.39746	3.564000	0.53791	2.826000	0.97356	0.563000	0.77884	TCT	TIMM10	-	NULL		0.522	TIMM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM10	HGNC	protein_coding	OTTHUMT00000392595.1	G	NM_012456		57296203	-1	no_errors	ENST00000257245	ensembl	human	known	70_37	missense	SNP	0.743	C
TIPARP	25976	genome.wustl.edu	37	3	156395966	156395966	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:156395966G>A	ENST00000461166.1	+	2	1068	c.480G>A	c.(478-480)caG>caA	p.Q160Q	TIPARP_ENST00000295924.7_Silent_p.Q160Q|TIPARP_ENST00000486483.1_Silent_p.Q160Q|TIPARP_ENST00000542783.1_Silent_p.Q160Q	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	160					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Q160Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTCACTTCCAGACTGATCTTT	0.463																																					Ovarian(171;276 1987 3319 6837 11197)												1	Substitution - coding silent(1)	cervix(1)											132.0	134.0	133.0					3																	156395966		2203	4300	6503	SO:0001819	synonymous_variant	25976			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.480G>A	3.37:g.156395966G>A			D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Q160	ENST00000461166.1	37	c.480	CCDS3177.1	3																																																																																			TIPARP	-	NULL		0.463	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TIPARP	HGNC	protein_coding	OTTHUMT00000351618.1	G	NM_015508		156395966	+1	no_errors	ENST00000295924	ensembl	human	known	70_37	silent	SNP	1.000	A
TLR4	7099	genome.wustl.edu	37	9	120466742	120466742	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:120466742G>A	ENST00000355622.6	+	0	93				TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_De_novo_Start_OutOfFrame	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4						activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CAGTGAGGATGATGCCAGGAT	0.597																																																	0													65.0	61.0	62.0					9																	120466742		2203	4300	6503			7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.-9G>A	9.37:g.120466742G>A			A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	RNA	SNP	-	NULL	ENST00000355622.6	37	NULL	CCDS6818.1	9																																																																																			TLR4	-	-		0.597	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	G	NM_138554		120466742	+1	no_errors	ENST00000472304	ensembl	human	known	70_37	rna	SNP	0.972	A
TMBIM1	64114	genome.wustl.edu	37	2	219142177	219142177	+	Splice_Site	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:219142177C>G	ENST00000444881.1	-	10	1277		c.e10-1		TMBIM1_ENST00000396809.2_Splice_Site|TMBIM1_ENST00000445635.1_Splice_Site|PNKD_ENST00000472650.1_Intron|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000258412.3_Splice_Site			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1						negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)	p.?(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGTACATACTGGGGAGAAG	0.498																																																	1	Unknown(1)	cervix(1)											101.0	94.0	96.0					2																	219142177		2203	4300	6503	SO:0001630	splice_region_variant	64114			BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.552-1G>C	2.37:g.219142177C>G			B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Splice_Site	SNP	-	e8-1	ENST00000444881.1	37	c.552-1	CCDS2412.1	2	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830323	0.71258	.	.	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000445635;ENST00000543441	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9543	0.89063	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMBIM1	218850421	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	6.766000	0.74970	2.471000	0.83476	0.655000	0.94253	.	TMBIM1	-	-		0.498	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMBIM1	HGNC	protein_coding	OTTHUMT00000338559.1	C	NM_022152	Intron	219142177	-1	no_errors	ENST00000258412	ensembl	human	known	70_37	splice_site	SNP	1.000	G
TMC2	117532	genome.wustl.edu	37	20	2597898	2597898	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:2597898C>G	ENST00000358864.1	+	16	2136	c.2121C>G	c.(2119-2121)ctC>ctG	p.L707L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	707					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.L707L(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTCAGCCTCCTGCCGGTGG	0.617																																																	1	Substitution - coding silent(1)	cervix(1)											136.0	90.0	105.0					20																	2597898		2203	4300	6503	SO:0001819	synonymous_variant	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2121C>G	20.37:g.2597898C>G			Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	pfam_TMC	p.L707	ENST00000358864.1	37	c.2121	CCDS13029.2	20																																																																																			TMC2	-	NULL		0.617	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	C			2597898	+1	no_errors	ENST00000358864	ensembl	human	known	70_37	silent	SNP	0.998	G
TMC2	117532	genome.wustl.edu	37	20	2621973	2621973	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:2621973G>T	ENST00000358864.1	+	20	2712	c.2697G>T	c.(2695-2697)aaG>aaT	p.K899N		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	899					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.K899N(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTCTGGAAAGAGTGCTCAGA	0.577																																																	1	Substitution - Missense(1)	cervix(1)											51.0	47.0	48.0					20																	2621973		2203	4300	6503	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2697G>T	20.37:g.2621973G>T	ENSP00000351732:p.Lys899Asn		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.K899N	ENST00000358864.1	37	c.2697	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474191	0.43942	.	.	ENSG00000149488	ENST00000358864	T	0.66099	-0.19	4.63	4.63	0.57726	.	0.186416	0.33834	N	0.004514	T	0.48732	0.1516	L	0.27053	0.805	0.09310	N	1	B	0.31318	0.319	B	0.30029	0.11	T	0.49143	-0.8970	10	0.45353	T	0.12	-22.0902	13.7092	0.62659	0.0:0.0:1.0:0.0	.	899	Q8TDI7	TMC2_HUMAN	N	899	ENSP00000351732:K899N	ENSP00000351732:K899N	K	+	3	2	TMC2	2569973	0.977000	0.34250	0.522000	0.27862	0.131000	0.20780	2.017000	0.40981	2.504000	0.84457	0.655000	0.94253	AAG	TMC2	-	NULL		0.577	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	G			2621973	+1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	0.217	T
TMCC2	9911	genome.wustl.edu	37	1	205197695	205197695	+	Start_Codon_SNP	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:205197695G>A	ENST00000358024.3	+	1	392	c.3G>A	c.(1-3)atG>atA	p.M1I	TMCC2_ENST00000545499.1_5'Flank	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	1						integral component of membrane (GO:0016021)		p.M1I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CATACACCATGAAGAGGTGCA	0.617																																																	1	Substitution - Missense(1)	cervix(1)											41.0	43.0	42.0					1																	205197695		2203	4300	6503	SO:0001582	initiator_codon_variant	9911			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.3G>A	1.37:g.205197695G>A	ENSP00000350718:p.Met1Ile		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.M1I	ENST00000358024.3	37	c.3	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446204	0.63178	.	.	ENSG00000133069	ENST00000358024	T	0.31510	1.49	5.08	4.17	0.49024	.	0.000000	0.64402	D	0.000008	T	0.26048	0.0635	.	.	.	0.80722	D	1	B	0.22909	0.077	B	0.15484	0.013	T	0.06807	-1.0806	9	0.87932	D	0	.	10.6522	0.45655	0.0905:0.0:0.9095:0.0	.	1	O75069	TMCC2_HUMAN	I	1	ENSP00000350718:M1I	ENSP00000350718:M1I	M	+	3	0	TMCC2	203464318	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.740000	0.55082	1.128000	0.42052	0.563000	0.77884	ATG	TMCC2	-	NULL		0.617	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	HGNC	protein_coding	OTTHUMT00000090383.1	G	NM_014858	Missense_Mutation	205197695	+1	no_errors	ENST00000358024	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM132A	54972	genome.wustl.edu	37	11	60702840	60702840	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:60702840G>C	ENST00000453848.2	+	10	2111	c.1953G>C	c.(1951-1953)ttG>ttC	p.L651F	TMEM132A_ENST00000005286.4_Missense_Mutation_p.L652F			Q24JP5	T132A_HUMAN	transmembrane protein 132A	651	Binds to HSPA5/GRP78. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L652F(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGCTGACCTTGAGCCGGGGCA	0.662																																																	2	Substitution - Missense(2)	cervix(2)											35.0	31.0	32.0					11																	60702840		2203	4298	6501	SO:0001583	missense	54972			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1953G>C	11.37:g.60702840G>C	ENSP00000405823:p.Leu651Phe		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.L652F	ENST00000453848.2	37	c.1956	CCDS44618.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.627558|2.627558	0.46944|0.46944	.|.	.|.	ENSG00000006118|ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286;ENST00000535480|ENST00000540112	T;T;T|.	0.62105|.	0.05;0.05;1.64|.	5.05|5.05	3.03|3.03	0.35002|0.35002	.|.	0.101577|.	0.37623|.	N|.	0.002011|.	T|.	0.65801|.	0.2726|.	M|M	0.81112|0.81112	2.525|2.525	0.36605|0.36605	D|D	0.874869|0.874869	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.76575|.	0.982;0.988|.	T|.	0.70223|.	-0.4931|.	10|.	0.87932|.	D|.	0|.	.|.	5.9677|5.9677	0.19334|0.19334	0.1842:0.1555:0.6602:0.0|0.1842:0.1555:0.6602:0.0	.|.	651;652|.	Q24JP5;Q24JP5-2|.	T132A_HUMAN;.|.	F|S	402;651;652;17|80	ENSP00000405823:L651F;ENSP00000005286:L652F;ENSP00000439716:L17F|.	ENSP00000005286:L652F|.	L|X	+|+	3|2	2|2	TMEM132A|TMEM132A	60459416|60459416	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.810000|0.810000	0.45777|0.45777	0.917000|0.917000	0.28665|0.28665	1.146000|1.146000	0.42352|0.42352	0.462000|0.462000	0.41574|0.41574	TTG|TGA	TMEM132A	-	NULL		0.662	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	G	NM_017870		60702840	+1	no_errors	ENST00000005286	ensembl	human	known	70_37	missense	SNP	0.992	C
TMEM164	84187	genome.wustl.edu	37	X	109247278	109247278	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:109247278G>C	ENST00000372073.1	+	2	612	c.276G>C	c.(274-276)aaG>aaC	p.K92N	TMEM164_ENST00000372072.3_Intron|TMEM164_ENST00000372068.2_Missense_Mutation_p.K92N|TMEM164_ENST00000288381.4_Missense_Mutation_p.K92N			Q5U3C3	TM164_HUMAN	transmembrane protein 164	92						integral component of membrane (GO:0016021)		p.K92N(2)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCCTGAGCAAGAATCTGCTCT	0.607																																																	2	Substitution - Missense(2)	cervix(2)											79.0	58.0	65.0					X																	109247278		2203	4300	6503	SO:0001583	missense	84187			AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.276G>C	X.37:g.109247278G>C	ENSP00000361143:p.Lys92Asn		B3KSQ8|F5H2P2	Missense_Mutation	SNP	NULL	p.K92N	ENST00000372073.1	37	c.276	CCDS14550.2	X	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443643	0.83993	.	.	ENSG00000157600	ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T	0.53206	0.63;0.63;0.63	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.67382	0.2887	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.982;0.975	T	0.71971	-0.4431	10	0.72032	D	0.01	-4.6729	17.2052	0.86916	0.0:0.0:1.0:0.0	.	92;92	Q9H617;Q5U3C3	.;TM164_HUMAN	N	92	ENSP00000361143:K92N;ENSP00000361138:K92N;ENSP00000288381:K92N	ENSP00000288381:K92N	K	+	3	2	TMEM164	109133934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.511000	0.81718	1.984000	0.57885	0.513000	0.50165	AAG	TMEM164	-	NULL		0.607	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM164	HGNC	protein_coding	OTTHUMT00000057898.1	G	NM_032227		109247278	+1	no_errors	ENST00000372068	ensembl	human	known	70_37	missense	SNP	1.000	C
TMEM169	92691	genome.wustl.edu	37	2	216964767	216964767	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:216964767G>A	ENST00000295658.4	+	3	603	c.396G>A	c.(394-396)ctG>ctA	p.L132L	TMEM169_ENST00000437356.2_Silent_p.L132L|TMEM169_ENST00000454545.1_Silent_p.L132L|TMEM169_ENST00000406027.2_Silent_p.L132L	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	132						integral component of membrane (GO:0016021)		p.L132L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCAGGAACTGACCAAACCTA	0.542																																																	1	Substitution - coding silent(1)	cervix(1)											120.0	106.0	110.0					2																	216964767		2203	4300	6503	SO:0001819	synonymous_variant	92691			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.396G>A	2.37:g.216964767G>A			B2R8W6	Silent	SNP	NULL	p.L132	ENST00000295658.4	37	c.396	CCDS2401.1	2																																																																																			TMEM169	-	NULL		0.542	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM169	HGNC	protein_coding	OTTHUMT00000256666.2	G	NM_138390		216964767	+1	no_errors	ENST00000295658	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM176B	28959	genome.wustl.edu	37	7	150493471	150493471	+	Missense_Mutation	SNP	C	C	G	rs141592438		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:150493471C>G	ENST00000447204.2	-	2	559	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	TMEM176B_ENST00000492607.1_Missense_Mutation_p.E63Q|TMEM176B_ENST00000429904.2_Missense_Mutation_p.E63Q|TMEM176B_ENST00000434545.1_Missense_Mutation_p.E63Q|TMEM176B_ENST00000450753.2_Missense_Mutation_p.E63Q|TMEM176B_ENST00000326442.5_Missense_Mutation_p.E63Q	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	63					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E63Q(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCAGCTGCTCATAACCAATC	0.498																																																	1	Substitution - Missense(1)	cervix(1)						C	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	8,4398	14.3+/-33.2	0,8,2195	57.0	57.0	57.0		187,187,187,187	1.0	0.0	7	dbSNP_134	57	0,8600		0,0,4300	yes	missense,missense,missense,missense	TMEM176B	NM_001101311.1,NM_001101312.1,NM_001101314.1,NM_014020.3	29,29,29,29	0,8,6495	GG,GC,CC		0.0,0.1816,0.0615	benign,benign,benign,benign	63/271,63/271,63/234,63/271	150493471	8,12998	2203	4300	6503	SO:0001583	missense	28959			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.187G>C	7.37:g.150493471C>G	ENSP00000410269:p.Glu63Gln		B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.E63Q	ENST00000447204.2	37	c.187	CCDS5908.1	7	.	.	.	.	.	.	.	.	.	.	C	4.671	0.124835	0.08931	0.001816	0.0	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.08193	3.25;3.25;3.25;3.25;3.25;3.12	4.92	1.04	0.20106	.	1.227770	0.06259	N	0.693596	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	P;P	0.38677	0.642;0.454	B;B	0.40636	0.335;0.057	T	0.43196	-0.9406	10	0.15952	T	0.53	-1.6786	7.4458	0.27211	0.0:0.6258:0.0:0.3742	.	63;63	E9PAV4;Q3YBM2	.;T176B_HUMAN	Q	63	ENSP00000419258:E63Q;ENSP00000318409:E63Q;ENSP00000410269:E63Q;ENSP00000413531:E63Q;ENSP00000397810:E63Q;ENSP00000404831:E63Q	ENSP00000318409:E63Q	E	-	1	0	TMEM176B	150124404	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.021000	0.13489	0.142000	0.18901	-0.444000	0.05651	GAG	TMEM176B	-	superfamily_MFS_dom_general_subst_transpt		0.498	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM176B	HGNC	protein_coding	OTTHUMT00000349204.1	C	NM_014020		150493471	-1	no_errors	ENST00000326442	ensembl	human	known	70_37	missense	SNP	0.000	G
TMEM202	338949	genome.wustl.edu	37	15	72699036	72699036	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:72699036G>A	ENST00000341689.3	+	3	485	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	TMEM202_ENST00000567679.1_Missense_Mutation_p.E59K	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	144						integral component of membrane (GO:0016021)		p.R144Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATCCTTAATCGAGGAAGCATG	0.453																																																	1	Substitution - Missense(1)	cervix(1)											155.0	143.0	147.0					15																	72699036		2199	4297	6496	SO:0001583	missense	338949				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.431G>A	15.37:g.72699036G>A	ENSP00000340212:p.Arg144Gln			Missense_Mutation	SNP	NULL	p.R144Q	ENST00000341689.3	37	c.431	CCDS32287.1	15	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065367	0.36470	.	.	ENSG00000187806	ENST00000341689	T	0.62941	-0.01	5.42	-1.47	0.08772	.	0.471212	0.20043	N	0.100468	T	0.42698	0.1214	L	0.56769	1.78	0.09310	N	1	P	0.46327	0.876	B	0.36666	0.23	T	0.36237	-0.9756	10	0.29301	T	0.29	-19.8039	1.0668	0.01612	0.3777:0.1486:0.3214:0.1522	.	144	A6NGA9	TM202_HUMAN	Q	144	ENSP00000340212:R144Q	ENSP00000340212:R144Q	R	+	2	0	TMEM202	70486090	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.091000	0.15046	0.061000	0.16311	0.655000	0.94253	CGA	TMEM202	-	NULL		0.453	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TMEM202	HGNC	protein_coding	OTTHUMT00000435756.1	G	NM_001080462		72699036	+1	no_errors	ENST00000341689	ensembl	human	known	70_37	missense	SNP	0.000	A
TMEM204	79652	genome.wustl.edu	37	16	1591971	1591971	+	Silent	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:1591971C>A	ENST00000566264.1	+	2	1033	c.330C>A	c.(328-330)ctC>ctA	p.L110L	TMEM204_ENST00000253934.5_Silent_p.L110L|IFT140_ENST00000426508.2_Intron	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	110					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L110L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				CGGCCGCGCTCACCGCAGGCC	0.687																																																	1	Substitution - coding silent(1)	cervix(1)											28.0	34.0	32.0					16																	1591971		2159	4247	6406	SO:0001819	synonymous_variant	79652				CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"""chromosome 16 open reading frame 30"""	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.330C>A	16.37:g.1591971C>A			D3DU76|Q3KRC1|Q9H7G5	Silent	SNP	NULL	p.L110	ENST00000566264.1	37	c.330	CCDS42098.1	16																																																																																			TMEM204	-	NULL		0.687	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM204	HGNC	protein_coding	OTTHUMT00000432610.1	C	NM_024600		1591971	+1	no_errors	ENST00000253934	ensembl	human	known	70_37	silent	SNP	0.151	A
TMEM51	55092	genome.wustl.edu	37	1	15546027	15546027	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:15546027G>A	ENST00000428417.1	+	3	996	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	TMEM51_ENST00000376008.2_Missense_Mutation_p.G184R|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376014.3_Missense_Mutation_p.G184R|TMEM51_ENST00000400796.3_Missense_Mutation_p.G184R	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	184						integral component of membrane (GO:0016021)		p.G184R(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GGCCAGCCCTGGGAACCCCCC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											59.0	67.0	64.0					1																	15546027		2203	4300	6503	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.550G>A	1.37:g.15546027G>A	ENSP00000394899:p.Gly184Arg		A8K819	Missense_Mutation	SNP	NULL	p.G184R	ENST00000428417.1	37	c.550	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979095	0.53827	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.81	4.81	0.61882	.	0.376577	0.29956	N	0.010766	T	0.28400	0.0702	L	0.36672	1.1	0.36706	D	0.880386	B	0.24368	0.102	B	0.26094	0.066	T	0.25082	-1.0142	10	0.56958	D	0.05	-2.4227	15.8938	0.79322	0.0:0.0:1.0:0.0	.	184	Q9NW97	TMM51_HUMAN	R	184	ENSP00000394899:G184R;ENSP00000365182:G184R;ENSP00000383600:G184R;ENSP00000365176:G184R	ENSP00000303666:G184R	G	+	1	0	TMEM51	15418614	0.988000	0.35896	0.775000	0.31657	0.477000	0.33069	4.862000	0.62976	2.608000	0.88229	0.555000	0.69702	GGG	TMEM51	-	NULL		0.552	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	G	NM_018022		15546027	+1	no_errors	ENST00000376008	ensembl	human	known	70_37	missense	SNP	0.906	A
TMF1	7110	genome.wustl.edu	37	3	69073265	69073265	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:69073265G>C	ENST00000398559.2	-	16	3295	c.3079C>G	c.(3079-3081)Caa>Gaa	p.Q1027E	CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.Q1030E|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000489370.1_5'Flank|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1027					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.Q1027E(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCATTTTGATTTGTTAAT	0.323																																																	1	Substitution - Missense(1)	cervix(1)											167.0	154.0	158.0					3																	69073265		1831	4077	5908	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3079C>G	3.37:g.69073265G>C	ENSP00000381567:p.Gln1027Glu		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.Q1030E	ENST00000398559.2	37	c.3088	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256328	0.22965	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.80738	-1.41;-1.41	5.59	5.59	0.84812	.	0.211058	0.42964	D	0.000637	T	0.66025	0.2748	N	0.16201	0.385	0.43426	D	0.995584	B;B	0.24721	0.11;0.051	B;B	0.17433	0.016;0.018	T	0.63915	-0.6529	10	0.06494	T	0.89	-16.7561	19.6022	0.95568	0.0:0.0:1.0:0.0	.	1030;1027	P82094-2;P82094	.;TMF1_HUMAN	E	1027;1030;943	ENSP00000381567:Q1027E;ENSP00000438706:Q1030E	ENSP00000348582:Q943E	Q	-	1	0	TMF1	69155955	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.293000	0.78740	2.620000	0.88729	0.557000	0.71058	CAA	TMF1	-	pfam_TMF_TATA-bd		0.323	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	G	NM_007114		69073265	-1	no_errors	ENST00000543976	ensembl	human	known	70_37	missense	SNP	1.000	C
TMPRSS11D	9407	genome.wustl.edu	37	4	68719872	68719872	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:68719872G>C	ENST00000283916.6	-	3	261	c.163C>G	c.(163-165)Caa>Gaa	p.Q55E	TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	55	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q55E(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TTTAGGAGTTGAAAACTGCTC	0.308																																																	1	Substitution - Missense(1)	cervix(1)											54.0	58.0	57.0					4																	68719872		2203	4289	6492	SO:0001583	missense	9407			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.163C>G	4.37:g.68719872G>C	ENSP00000283916:p.Gln55Glu		Q08AF6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_SEA,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q55E	ENST00000283916.6	37	c.163	CCDS3518.1	4	.	.	.	.	.	.	.	.	.	.	G	4.765	0.142339	0.09083	.	.	ENSG00000153802	ENST00000283916	T	0.37752	1.18	5.3	-0.877	0.10621	SEA (3);	0.656003	0.14146	N	0.338325	T	0.28134	0.0694	L	0.56769	1.78	0.09310	N	0.999998	B	0.06786	0.001	B	0.09377	0.004	T	0.36986	-0.9725	10	0.11794	T	0.64	.	9.1965	0.37231	0.0:0.3577:0.2758:0.3666	.	55	O60235	TM11D_HUMAN	E	55	ENSP00000283916:Q55E	ENSP00000283916:Q55E	Q	-	1	0	TMPRSS11D	68402467	0.973000	0.33851	0.006000	0.13384	0.174000	0.22865	0.227000	0.17795	-0.434000	0.07275	-0.257000	0.10917	CAA	TMPRSS11D	-	pfam_SEA,smart_SEA,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA		0.308	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11D	HGNC	protein_coding	OTTHUMT00000251430.3	G	NM_004262		68719872	-1	no_errors	ENST00000283916	ensembl	human	known	70_37	missense	SNP	0.003	C
TMPRSS11A	339967	genome.wustl.edu	37	4	68777208	68777208	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:68777208C>T	ENST00000334830.7	-	10	1864	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.G369E|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.G370E			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	373	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.G373E(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GACTAAAGGTCCCCCAGAATC	0.343																																					NSCLC(26;2 894 10941 14480 22546)												1	Substitution - Missense(1)	cervix(1)											91.0	88.0	89.0					4																	68777208		2203	4300	6503	SO:0001583	missense	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1118G>A	4.37:g.68777208C>T	ENSP00000334611:p.Gly373Glu		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G373E	ENST00000334830.7	37	c.1118	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975577	0.74360	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.57	4.73	0.59995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.52532	D	0.000078	D	0.98614	0.9536	H	0.95850	3.73	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99129	1.0852	10	0.87932	D	0	.	12.2948	0.54840	0.0:0.9174:0.0:0.0826	.	370;373	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	E	369;373;370;337	ENSP00000426911:G369E;ENSP00000334611:G373E;ENSP00000379491:G370E;ENSP00000427621:G337E	ENSP00000334611:G373E	G	-	2	0	TMPRSS11A	68459803	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.463000	0.80869	1.362000	0.46000	0.460000	0.39030	GGA	TMPRSS11A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.343	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	C	NM_182606		68777208	-1	no_errors	ENST00000334830	ensembl	human	known	70_37	missense	SNP	1.000	T
TNS1	7145	genome.wustl.edu	37	2	218686477	218686477	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:218686477G>A	ENST00000171887.4	-	23	3698	c.3246C>T	c.(3244-3246)atC>atT	p.I1082I	TNS1_ENST00000430930.1_Silent_p.I1061I|TNS1_ENST00000419504.1_Silent_p.I1069I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1082	Ser-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.I1082I(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAGCACTGAGGATGGGGCTGC	0.662																																																	1	Substitution - coding silent(1)	cervix(1)											12.0	13.0	12.0					2																	218686477		2200	4296	6496	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3246C>T	2.37:g.218686477G>A			Q4ZG71|Q6IPI5	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_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I1082	ENST00000171887.4	37	c.3246	CCDS2407.1	2																																																																																			TNS1	-	NULL		0.662	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	G	NM_022648		218686477	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	silent	SNP	1.000	A
TNXB	7148	genome.wustl.edu	37	6	32065772	32065772	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:32065772C>G	ENST00000479795.1	-	2	344	c.204G>C	c.(202-204)gaG>gaC	p.E68D	TNXB_ENST00000375247.2_Missense_Mutation_p.E68D|TNXB_ENST00000375244.3_Missense_Mutation_p.E68D			P22105	TENX_HUMAN	tenascin XB	68					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.E68D(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACCTGCTTCTCCCCTCCTT	0.657																																																	2	Substitution - Missense(2)	cervix(2)											32.0	35.0	34.0					6																	32065772		1914	4108	6022	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.204G>C	6.37:g.32065772C>G	ENSP00000418248:p.Glu68Asp		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E68D	ENST00000479795.1	37	c.204		6	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712631	0.68730	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;D	0.94046	0.15;-0.02;-3.34	4.63	-0.585	0.11698	.	0.000000	0.44483	D	0.000441	D	0.91178	0.7221	L	0.56124	1.755	0.24110	N	0.995842	D	0.67145	0.996	D	0.76071	0.987	D	0.85416	0.1140	10	0.40728	T	0.16	.	8.633	0.33930	0.0:0.5143:0.0:0.4857	.	68	P22105-3	.	D	68	ENSP00000364393:E68D;ENSP00000364396:E68D;ENSP00000418248:E68D	ENSP00000364393:E68D	E	-	3	2	TNXB	32173750	0.964000	0.33143	0.998000	0.56505	0.998000	0.95712	0.048000	0.14078	-0.026000	0.13895	0.561000	0.74099	GAG	TNXB	-	NULL		0.657	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000357059.1	C	NM_019105		32065772	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	missense	SNP	0.997	G
TOB2	10766	genome.wustl.edu	37	22	41832381	41832381	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:41832381G>A	ENST00000327492.3	-	2	1675	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	323					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L323L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGTTGTAGCTGAGGCCTTCCA	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											102.0	96.0	98.0					22																	41832381		2203	4300	6503	SO:0001819	synonymous_variant	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.969C>T	22.37:g.41832381G>A			Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Silent	SNP	pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.L323	ENST00000327492.3	37	c.969	CCDS14015.1	22																																																																																			TOB2	-	NULL		0.597	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOB2	HGNC	protein_coding	OTTHUMT00000320699.1	G	NM_016272		41832381	-1	no_errors	ENST00000327492	ensembl	human	known	70_37	silent	SNP	1.000	A
TOM1L1	10040	genome.wustl.edu	37	17	53016346	53016346	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:53016346G>C	ENST00000575882.1	+	11	1448	c.1095G>C	c.(1093-1095)atG>atC	p.M365I	TOM1L1_ENST00000540336.1_Missense_Mutation_p.M253I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M288I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M365I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M358I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M288I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	365					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.M365I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ATCCACAGATGAACTTGCTAG	0.353																																																	1	Substitution - Missense(1)	cervix(1)											118.0	107.0	110.0					17																	53016346		2203	4300	6503	SO:0001583	missense	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1095G>C	17.37:g.53016346G>C	ENSP00000460823:p.Met365Ile		Q53G06|Q8N749	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.M365I	ENST00000575882.1	37	c.1095	CCDS11582.1	17	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062105	0.36373	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.22336	1.98;1.96;1.99;1.99	5.37	4.4	0.53042	.	4.588010	0.00166	N	0.000018	T	0.24314	0.0589	L	0.43152	1.355	0.24118	N	0.995815	B;B;B;B	0.16603	0.018;0.018;0.018;0.018	B;B;B;B	0.16722	0.016;0.01;0.016;0.01	T	0.21518	-1.0243	10	0.37606	T	0.19	2.6289	9.7992	0.40753	0.0923:0.0:0.9077:0.0	.	253;358;288;365	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	I	365;253;288;288	ENSP00000408958:M365I;ENSP00000441242:M253I;ENSP00000343901:M288I;ENSP00000443099:M288I	ENSP00000343901:M288I	M	+	3	0	TOM1L1	50371345	0.305000	0.24481	0.567000	0.28434	0.935000	0.57460	0.277000	0.18734	1.500000	0.48636	0.453000	0.30009	ATG	TOM1L1	-	pirsf_TOM1		0.353	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOM1L1	HGNC	protein_coding	OTTHUMT00000439029.2	G	NM_005486		53016346	+1	no_errors	ENST00000575882	ensembl	human	known	70_37	missense	SNP	0.918	C
TOR1AIP2	163590	genome.wustl.edu	37	1	179820219	179820219	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:179820219G>A	ENST00000367612.3	-	4	701	c.314C>T	c.(313-315)tCa>tTa	p.S105L	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.S105L	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0								p.S105L(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CAGATTTTCTGAAGGGAGGTG	0.483																																																	1	Substitution - Missense(1)	cervix(1)											85.0	75.0	78.0					1																	179820219		2203	4300	6503	SO:0001583	missense	163590				CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.314C>T	1.37:g.179820219G>A	ENSP00000356584:p.Ser105Leu		Q05BU2	Missense_Mutation	SNP	pfam_Lamina-ass_polypeptide_CLAP1C	p.S105L	ENST00000367612.3	37	c.314	CCDS1334.1	1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267479	0.59540	.	.	ENSG00000169905	ENST00000367612	T	0.23552	1.9	5.91	4.03	0.46877	.	1.412710	0.04852	N	0.442453	T	0.27832	0.0685	M	0.63428	1.95	0.09310	N	1	B	0.18461	0.028	B	0.17433	0.018	T	0.42515	-0.9447	10	0.11182	T	0.66	0.0424	8.2948	0.31980	0.0827:0.1562:0.7611:0.0	.	105	Q8NFQ8	TOIP2_HUMAN	L	105	ENSP00000356584:S105L	ENSP00000356584:S105L	S	-	2	0	TOR1AIP2	178086842	0.419000	0.25449	0.002000	0.10522	0.465000	0.32709	1.788000	0.38714	0.817000	0.34445	0.655000	0.94253	TCA	TOR1AIP2	-	pfam_Lamina-ass_polypeptide_CLAP1C		0.483	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1AIP2	HGNC	protein_coding	OTTHUMT00000085304.1	G	NM_145034		179820219	-1	no_errors	ENST00000367612	ensembl	human	known	70_37	missense	SNP	0.055	A
TPR	7175	genome.wustl.edu	37	1	186302371	186302371	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:186302371G>C	ENST00000367478.4	-	37	5634	c.5338C>G	c.(5338-5340)Caa>Gaa	p.Q1780E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1780					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.Q1780E(1)|p.Q1781E(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGACTCTGTTGAGTGGGTTGC	0.443			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - Missense(2)	cervix(2)											142.0	134.0	137.0					1																	186302371		1909	4119	6028	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5338C>G	1.37:g.186302371G>C	ENSP00000356448:p.Gln1780Glu		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.Q1780E	ENST00000367478.4	37	c.5338	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601061	0.87055	.	.	ENSG00000047410	ENST00000367478	T	0.26957	1.7	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.48370	0.1496	M	0.74258	2.255	0.80722	D	1	D	0.54207	0.965	P	0.61201	0.885	T	0.36939	-0.9727	10	0.20046	T	0.44	.	18.5873	0.91194	0.0:0.0:1.0:0.0	.	1780	P12270	TPR_HUMAN	E	1780	ENSP00000356448:Q1780E	ENSP00000356448:Q1780E	Q	-	1	0	TPR	184568994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.012000	0.93624	2.403000	0.81681	0.644000	0.83932	CAA	TPR	-	NULL		0.443	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	G	NM_003292		186302371	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	1.000	C
TPX2	22974	genome.wustl.edu	37	20	30385276	30385276	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:30385276C>G	ENST00000300403.6	+	16	2431	c.1903C>G	c.(1903-1905)Cag>Gag	p.Q635E	TPX2_ENST00000340513.4_Missense_Mutation_p.Q671E	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	635					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.Q635E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CGTCATCTCTCAGGAGCCCTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											170.0	175.0	173.0					20																	30385276		2203	4300	6503	SO:0001583	missense	22974			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1903C>G	20.37:g.30385276C>G	ENSP00000300403:p.Gln635Glu		Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot	p.Q671E	ENST00000300403.6	37	c.2011	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852004	0.71719	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.28666	1.6	5.93	5.93	0.95920	.	0.056612	0.64402	D	0.000001	T	0.50769	0.1635	L	0.55481	1.735	0.49299	D	0.999775	D;D	0.65815	0.982;0.995	D;D	0.72625	0.952;0.978	T	0.16778	-1.0391	10	0.17832	T	0.49	-15.0415	19.3291	0.94278	0.0:1.0:0.0:0.0	.	671;635	Q96RR5;Q9ULW0	.;TPX2_HUMAN	E	635;671	ENSP00000341145:Q671E	ENSP00000300403:Q635E	Q	+	1	0	TPX2	29848937	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.255000	0.65462	2.814000	0.96858	0.655000	0.94253	CAG	TPX2	-	NULL		0.458	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2	C			30385276	+1	no_errors	ENST00000340513	ensembl	human	known	70_37	missense	SNP	1.000	G
TRAPPC8	22878	genome.wustl.edu	37	18	29437732	29437732	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:29437732C>G	ENST00000283351.4	-	20	3294	c.2959G>C	c.(2959-2961)Gat>Cat	p.D987H	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D933H	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	987					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.D987H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGGTAGCATCTGTCACAACA	0.458																																																	1	Substitution - Missense(1)	cervix(1)											187.0	169.0	175.0					18																	29437732		2203	4300	6503	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2959G>C	18.37:g.29437732C>G	ENSP00000283351:p.Asp987His		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	NULL	p.D987H	ENST00000283351.4	37	c.2959	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259877	0.23051	.	.	ENSG00000153339	ENST00000283351	T	0.08807	3.05	5.21	5.21	0.72293	.	0.269109	0.41001	D	0.000972	T	0.11324	0.0276	L	0.54323	1.7	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.02966	-1.1088	10	0.45353	T	0.12	.	15.4774	0.75493	0.0:0.8611:0.1389:0.0	.	987	Q9Y2L5	TPPC8_HUMAN	H	987	ENSP00000283351:D987H	ENSP00000283351:D987H	D	-	1	0	TRAPPC8	27691730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.661000	0.54503	2.582000	0.87167	0.563000	0.77884	GAT	TRAPPC8	-	NULL		0.458	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	C	NM_014939		29437732	-1	no_errors	ENST00000283351	ensembl	human	known	70_37	missense	SNP	1.000	G
TRH	7200	genome.wustl.edu	37	3	129694836	129694836	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:129694836C>G	ENST00000302649.3	+	2	704	c.177C>G	c.(175-177)atC>atG	p.I59M	TRH_ENST00000507066.1_Missense_Mutation_p.I59M	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	59					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.I59M(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						GGGAAAACATCCAGCGGCTGC	0.677																																					Esophageal Squamous(60;321 1330 17401 41911)												1	Substitution - Missense(1)	cervix(1)											20.0	25.0	23.0					3																	129694836		2203	4300	6503	SO:0001583	missense	7200				CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.177C>G	3.37:g.129694836C>G	ENSP00000303452:p.Ile59Met		B2R8R1|Q2TB83	Missense_Mutation	SNP	pfam_TRH,pirsf_TRH	p.I59M	ENST00000302649.3	37	c.177	CCDS3066.1	3	.	.	.	.	.	.	.	.	.	.	C	6.755	0.508162	0.12883	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.47177	0.85;0.85	4.27	2.25	0.28309	.	0.135107	0.51477	D	0.000096	T	0.29355	0.0731	N	0.22421	0.69	0.20074	N	0.999937	B	0.30211	0.273	B	0.29176	0.099	T	0.20273	-1.0280	10	0.59425	D	0.04	-5.6347	6.5263	0.22303	0.2093:0.5879:0.2028:0.0	.	59	P20396	TRH_HUMAN	M	59	ENSP00000303452:I59M;ENSP00000426522:I59M	ENSP00000303452:I59M	I	+	3	3	TRH	131177526	0.757000	0.28394	0.833000	0.33012	0.004000	0.04260	0.419000	0.21247	1.103000	0.41568	0.555000	0.69702	ATC	TRH	-	pfam_TRH,pirsf_TRH		0.677	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRH	HGNC	protein_coding	OTTHUMT00000356592.1	C	NM_007117		129694836	+1	no_errors	ENST00000302649	ensembl	human	known	70_37	missense	SNP	0.772	G
TRIM17	51127	genome.wustl.edu	37	1	228596276	228596276	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:228596276C>G	ENST00000366697.2	-	6	2016	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	TRIM17_ENST00000295033.3_Missense_Mutation_p.E354Q|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000493030.2_5'Flank|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000366698.2_Missense_Mutation_p.E354Q			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	354	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E354Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				ATGCCCACCTCCCAGTAGTGC	0.637																																																	1	Substitution - Missense(1)	cervix(1)											52.0	56.0	55.0					1																	228596276		2203	4300	6503	SO:0001583	missense	51127			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1060G>C	1.37:g.228596276C>G	ENSP00000355658:p.Glu354Gln		B4DVJ2|Q5VST8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E354Q	ENST00000366697.2	37	c.1060	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.085116	0.94100	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.77877	-1.13;-1.13;-1.13	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.141093	0.32640	N	0.005828	D	0.89591	0.6759	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91531	0.5242	10	0.87932	D	0	.	15.9788	0.80091	0.0:1.0:0.0:0.0	.	354	Q9Y577	TRI17_HUMAN	Q	354	ENSP00000355658:E354Q;ENSP00000355659:E354Q;ENSP00000295033:E354Q	ENSP00000295033:E354Q	E	-	1	0	TRIM17	226662899	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.426000	0.66476	2.531000	0.85337	0.655000	0.94253	GAG	TRIM17	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.637	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	C	NM_016102		228596276	-1	no_errors	ENST00000295033	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIM21	6737	genome.wustl.edu	37	11	4411252	4411252	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:4411252C>G	ENST00000254436.7	-	2	500	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	TRIM21_ENST00000543625.1_Missense_Mutation_p.E130Q	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	130					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E130Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TGTGCAGCCTCCTCAAGAGGG	0.562																																																	1	Substitution - Missense(1)	cervix(1)											48.0	49.0	48.0					11																	4411252		1997	4177	6174	SO:0001583	missense	6737			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.388G>C	11.37:g.4411252C>G	ENSP00000254436:p.Glu130Gln		Q5XPV5|Q96RF8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.E130Q	ENST00000254436.7	37	c.388	CCDS44525.1	11	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919593	0.52653	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.59772	0.24;0.24	4.32	4.32	0.51571	Zinc finger, B-box, chordata (1);	0.252520	0.28388	N	0.015537	T	0.74824	0.3767	M	0.92880	3.355	0.29983	N	0.817525	D	0.57899	0.981	P	0.52109	0.69	T	0.78473	-0.2190	10	0.87932	D	0	.	15.1289	0.72503	0.0:1.0:0.0:0.0	.	130	P19474	RO52_HUMAN	Q	130	ENSP00000254436:E130Q;ENSP00000444045:E130Q	ENSP00000254436:E130Q	E	-	1	0	TRIM21	4367828	0.187000	0.23238	0.970000	0.41538	0.357000	0.29423	1.990000	0.40717	2.691000	0.91804	0.561000	0.74099	GAG	TRIM21	-	prints_Znf_B-box_chordata		0.562	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	HGNC	protein_coding	OTTHUMT00000385842.1	C	NM_003141		4411252	-1	no_errors	ENST00000254436	ensembl	human	known	70_37	missense	SNP	0.990	G
TRIM40	135644	genome.wustl.edu	37	6	30114945	30114945	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:30114945C>T	ENST00000396581.1	+	4	1011	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	TRIM40_ENST00000376724.2_Silent_p.L209L|TRIM40_ENST00000307859.4_Silent_p.L180L			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	209					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)	p.L180L(1)		ovary(1)	1						GGTCATTGATCTGGAAAGGAC	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											131.0	112.0	119.0					6																	30114945		2203	4300	6503	SO:0001819	synonymous_variant	135644			AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.625C>T	6.37:g.30114945C>T			Q5SRJ6|Q5SS36|Q8TD96	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.L209	ENST00000396581.1	37	c.625		6																																																																																			TRIM40	-	NULL		0.572	TRIM40-001	KNOWN	basic	protein_coding	TRIM40	HGNC	protein_coding	OTTHUMT00000076117.2	C			30114945	+1	no_errors	ENST00000376724	ensembl	human	known	70_37	silent	SNP	0.003	T
TRIM7	81786	genome.wustl.edu	37	5	180631636	180631636	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:180631636G>C	ENST00000274773.7	-	1	536	c.475C>G	c.(475-477)Cgc>Ggc	p.R159G	CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.1_ENST00000503314.1_RNA|TRIM7_ENST00000393315.1_5'Flank|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000514784.1_RNA|TRIM7_ENST00000334421.5_Missense_Mutation_p.R159G|TRIM7_ENST00000422067.2_5'Flank|TRIM7_ENST00000361809.3_5'Flank|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000511517.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	159						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R159G(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GCGTGCTCGCGGTGCTCGCGG	0.731																																					Esophageal Squamous(128;2258 2308 35507 48647)												1	Substitution - Missense(1)	cervix(1)											4.0	4.0	4.0					5																	180631636		1776	3537	5313	SO:0001583	missense	81786			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.475C>G	5.37:g.180631636G>C	ENSP00000274773:p.Arg159Gly		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.R159G	ENST00000274773.7	37	c.475	CCDS4462.1	5	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505094	0.64410	.	.	ENSG00000146054	ENST00000274773;ENST00000334421	T;T	0.47869	0.83;0.83	3.71	3.71	0.42584	Zinc finger, B-box, chordata (1);Zinc finger, B-box (3);	0.150283	0.31167	N	0.008127	T	0.65112	0.2660	M	0.72894	2.215	0.80722	D	1	D;P	0.76494	0.999;0.846	D;P	0.70487	0.969;0.579	T	0.70303	-0.4909	10	0.87932	D	0	.	13.0822	0.59119	0.0:0.0:1.0:0.0	.	159;159	Q9C029-1;Q9C029	.;TRIM7_HUMAN	G	159	ENSP00000274773:R159G;ENSP00000334666:R159G	ENSP00000274773:R159G	R	-	1	0	TRIM7	180564242	0.999000	0.42202	1.000000	0.80357	0.724000	0.41520	1.354000	0.34056	1.932000	0.55993	0.194000	0.17425	CGC	TRIM7	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box,prints_Znf_B-box_chordata		0.731	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3	G	NM_203296		180631636	-1	no_errors	ENST00000274773	ensembl	human	known	70_37	missense	SNP	0.996	C
TRIML2	205860	genome.wustl.edu	37	4	189026426	189026426	+	5'UTR	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:189026426C>T	ENST00000512729.1	-	0	321				TRIML2_ENST00000326754.3_5'Flank|TRIML2_ENST00000536972.1_Missense_Mutation_p.D33N|TRIML2_ENST00000502707.1_5'Flank	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2						protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GTGATTTGGTCAACATCACAG	0.483																																																	0													226.0	173.0	189.0					4																	189026426		692	1591	2283	SO:0001623	5_prime_UTR_variant	205860			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.-54G>A	4.37:g.189026426C>T			B7Z6J6	Missense_Mutation	SNP	pfam_Znf_B-box,pfscan_Znf_B-box	p.D33N	ENST00000512729.1	37	c.97	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278435	0.80692	.	.	ENSG00000179046	ENST00000536972	T	0.50813	0.73	4.94	4.94	0.65067	.	.	.	.	.	T	0.58032	0.2094	.	.	.	0.27893	N	0.939279	D	0.57899	0.981	P	0.54210	0.745	T	0.54563	-0.8275	8	0.59425	D	0.04	.	14.385	0.66938	0.0:1.0:0.0:0.0	.	33	B7Z6J6	.	N	33	ENSP00000441236:D33N	ENSP00000441236:D33N	D	-	1	0	TRIML2	189263420	0.977000	0.34250	0.831000	0.32960	0.020000	0.10135	2.568000	0.45965	2.690000	0.91761	0.655000	0.94253	GAC	TRIML2	-	pfam_Znf_B-box,pfscan_Znf_B-box		0.483	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	C	NM_173553		189026426	-1	no_errors	ENST00000536972	ensembl	human	known	70_37	missense	SNP	0.933	T
TRMU	55687	genome.wustl.edu	37	22	46733701	46733701	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr22:46733701G>A	ENST00000290846.4	+	2	448	c.108G>A	c.(106-108)atG>atA	p.M36I	TRMU_ENST00000424260.2_Start_Codon_SNP_p.M1I|TRMU_ENST00000381019.3_Missense_Mutation_p.M36I	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	36					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)	p.M36I(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GGGTGTTTATGAAGAACTGGG	0.468																																																	1	Substitution - Missense(1)	cervix(1)											117.0	100.0	106.0					22																	46733701		2203	4300	6503	SO:0001583	missense	55687			AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.108G>A	22.37:g.46733701G>A	ENSP00000290846:p.Met36Ile		A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase	p.M36I	ENST00000290846.4	37	c.108	CCDS14075.1	22	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986752	0.93106	.	.	ENSG00000100416	ENST00000290846;ENST00000381019;ENST00000424260	T;T;T	0.74737	-0.87;-0.87;-0.87	4.91	4.91	0.64330	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.97110	0.994;0.986;1.0	D	0.88629	0.3168	10	0.87932	D	0	-46.7692	17.7239	0.88360	0.0:0.0:1.0:0.0	.	36;36;36	B4DHM1;O75648-2;O75648	.;.;MTU1_HUMAN	I	36;36;1	ENSP00000290846:M36I;ENSP00000370407:M36I;ENSP00000406038:M1I	ENSP00000290846:M36I	M	+	3	0	TRMU	45112365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.324000	0.79115	2.256000	0.74724	0.557000	0.71058	ATG	TRMU	-	pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase		0.468	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMU	HGNC	protein_coding	OTTHUMT00000318042.2	G	NM_018006		46733701	+1	no_errors	ENST00000290846	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPV4	59341	genome.wustl.edu	37	12	110221551	110221551	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:110221551C>T	ENST00000418703.2	-	15	2585	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	TRPV4_ENST00000544971.1_Missense_Mutation_p.E724K|TRPV4_ENST00000541794.1_Missense_Mutation_p.E784K|TRPV4_ENST00000392719.2_Missense_Mutation_p.E784K|TRPV4_ENST00000537083.1_Missense_Mutation_p.E771K|TRPV4_ENST00000536838.1_Missense_Mutation_p.E797K|TRPV4_ENST00000346520.2_Missense_Mutation_p.E771K|TRPV4_ENST00000261740.2_Missense_Mutation_p.E831K	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	831	Interaction with calmodulin.				actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.E831K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TTGTTCAGTTCCACCACGCGG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											79.0	65.0	70.0					12																	110221551		2203	4300	6503	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2491G>A	12.37:g.110221551C>T	ENSP00000406191:p.Glu831Lys		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.E831K	ENST00000418703.2	37	c.2491	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.829870	0.96996	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.4;-2.63;-2.42;-2.63;-2.4;-2.68	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.93880	0.8042	M	0.62723	1.935	0.80722	D	1	D;D;D;P;P	0.76494	0.999;0.988;0.999;0.941;0.952	D;P;D;P;P	0.68483	0.958;0.76;0.958;0.595;0.496	D	0.92011	0.5618	10	0.25106	T	0.35	-2.0037	17.7042	0.88304	0.0:1.0:0.0:0.0	.	771;831;724;784;797	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	K	831;831;784;771;724;771;784;797	ENSP00000406191:E831K;ENSP00000261740:E831K;ENSP00000376480:E784K;ENSP00000319003:E771K;ENSP00000443611:E724K;ENSP00000442738:E771K;ENSP00000442167:E784K;ENSP00000444336:E797K	ENSP00000261740:E831K	E	-	1	0	TRPV4	108705934	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.134000	0.77268	2.523000	0.85059	0.561000	0.74099	GAA	TRPV4	-	NULL		0.632	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	C	NM_021625		110221551	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	missense	SNP	1.000	T
TRPV4	59341	genome.wustl.edu	37	12	110222220	110222220	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:110222220G>A	ENST00000418703.2	-	14	2453	c.2359C>T	c.(2359-2361)Cac>Tac	p.H787Y	TRPV4_ENST00000544971.1_Missense_Mutation_p.H680Y|TRPV4_ENST00000541794.1_Missense_Mutation_p.H740Y|TRPV4_ENST00000392719.2_Missense_Mutation_p.H740Y|TRPV4_ENST00000537083.1_Missense_Mutation_p.H727Y|TRPV4_ENST00000536838.1_Missense_Mutation_p.H753Y|TRPV4_ENST00000346520.2_Missense_Mutation_p.H727Y|TRPV4_ENST00000261740.2_Missense_Mutation_p.H787Y	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	787					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.H787Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGGTTCCAGTGAGACCAGTTC	0.607																																																	1	Substitution - Missense(1)	cervix(1)											143.0	120.0	128.0					12																	110222220		2203	4300	6503	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2359C>T	12.37:g.110222220G>A	ENSP00000406191:p.His787Tyr		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.H787Y	ENST00000418703.2	37	c.2359	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600910	0.87055	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.28;-2.49;-2.28;-2.49;-2.28;-2.51	4.82	4.82	0.62117	.	0.047989	0.85682	D	0.000000	D	0.90459	0.7012	M	0.64997	1.995	0.58432	D	0.999999	P;P;P;P;P	0.50528	0.883;0.936;0.933;0.799;0.731	P;B;P;P;B	0.49799	0.622;0.342;0.622;0.574;0.382	D	0.91496	0.5215	10	0.62326	D	0.03	0.2397	16.6118	0.84885	0.0:0.0:1.0:0.0	.	727;787;680;740;753	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	Y	787;787;740;727;680;727;740;753	ENSP00000406191:H787Y;ENSP00000261740:H787Y;ENSP00000376480:H740Y;ENSP00000319003:H727Y;ENSP00000443611:H680Y;ENSP00000442738:H727Y;ENSP00000442167:H740Y;ENSP00000444336:H753Y	ENSP00000261740:H787Y	H	-	1	0	TRPV4	108706603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.763000	0.62257	2.508000	0.84585	0.555000	0.69702	CAC	TRPV4	-	prints_TRPV1-4_channel,tigrfam_TRP_channel		0.607	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	G	NM_021625		110222220	-1	no_errors	ENST00000261740	ensembl	human	known	70_37	missense	SNP	1.000	A
TSC22D2	9819	genome.wustl.edu	37	3	150127342	150127342	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:150127342G>C	ENST00000361875.3	+	1	1221	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	TSC22D2_ENST00000361136.2_Missense_Mutation_p.E69Q	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	69					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E69Q(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAGCTCTTCCGAAGAGACGCT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											38.0	40.0	39.0					3																	150127342		2203	4300	6503	SO:0001583	missense	9819			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.205G>C	3.37:g.150127342G>C	ENSP00000354543:p.Glu69Gln		D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.E69Q	ENST00000361875.3	37	c.205	CCDS3149.1	3	.	.	.	.	.	.	.	.	.	.	g	25.1	4.598085	0.87055	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.25414	1.8;1.8	4.55	4.55	0.56014	.	0.000000	0.56097	D	0.000038	T	0.52468	0.1736	M	0.76170	2.325	0.49389	D	0.999787	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.59606	-0.7423	10	0.87932	D	0	.	16.9644	0.86281	0.0:0.0:1.0:0.0	.	69;69	O75157-2;O75157	.;T22D2_HUMAN	Q	69	ENSP00000354543:E69Q;ENSP00000354893:E69Q	ENSP00000354893:E69Q	E	+	1	0	TSC22D2	151610032	1.000000	0.71417	0.974000	0.42286	0.914000	0.54420	9.409000	0.97331	2.092000	0.63282	0.645000	0.84053	GAA	TSC22D2	-	NULL		0.637	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	TSC22D2	HGNC	protein_coding	OTTHUMT00000357123.2	G	NM_014779		150127342	+1	no_errors	ENST00000361875	ensembl	human	known	70_37	missense	SNP	1.000	C
TSHZ2	128553	genome.wustl.edu	37	20	51872272	51872272	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:51872272G>C	ENST00000371497.5	+	2	3162	c.2275G>C	c.(2275-2277)Gag>Cag	p.E759Q	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E756Q|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E756Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	759					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E759Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTACCTGTTTGAGAACAGCGA	0.522																																																	1	Substitution - Missense(1)	cervix(1)											94.0	92.0	93.0					20																	51872272		2203	4300	6503	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2275G>C	20.37:g.51872272G>C	ENSP00000360552:p.Glu759Gln		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E759Q	ENST00000371497.5	37	c.2275	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022781	0.35701	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.45276	0.9;0.9	5.23	5.23	0.72850	.	0.235115	0.43260	D	0.000583	T	0.40956	0.1138	L	0.60455	1.87	0.37794	D	0.927478	P	0.38335	0.627	B	0.32022	0.139	T	0.49872	-0.8893	10	0.44086	T	0.13	-10.7788	18.8062	0.92038	0.0:0.0:1.0:0.0	.	759	Q9NRE2	TSH2_HUMAN	Q	759;756;285	ENSP00000360552:E759Q;ENSP00000333114:E756Q	ENSP00000333114:E756Q	E	+	1	0	TSHZ2	51305679	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.298000	0.78815	2.438000	0.82558	0.579000	0.79373	GAG	TSHZ2	-	NULL		0.522	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	G	NM_173485		51872272	+1	no_errors	ENST00000371497	ensembl	human	known	70_37	missense	SNP	1.000	C
TSPAN8	7103	genome.wustl.edu	37	12	71537942	71537942	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:71537942C>T	ENST00000393330.2	-	6	664	c.112G>A	c.(112-114)Gac>Aac	p.D38N	TSPAN8_ENST00000546561.1_Missense_Mutation_p.D38N|TSPAN8_ENST00000552786.1_5'UTR|TSPAN8_ENST00000247829.3_Missense_Mutation_p.D38N			P19075	TSN8_HUMAN	tetraspanin 8	38					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D38N(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GCTTGAGAGTCATTGCTTACT	0.303																																																	1	Substitution - Missense(1)	cervix(1)											163.0	148.0	153.0					12																	71537942		2203	4300	6503	SO:0001583	missense	7103			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.112G>A	12.37:g.71537942C>T	ENSP00000377003:p.Asp38Asn		B2R7T7|Q9BS78	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.D38N	ENST00000393330.2	37	c.112	CCDS8999.1	12	.	.	.	.	.	.	.	.	.	.	C	3.166	-0.171094	0.06421	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561	T;T;T	0.80033	-1.33;-1.33;-1.33	5.37	-1.51	0.08664	.	0.822673	0.11348	N	0.573343	T	0.60170	0.2248	N	0.20328	0.56	0.09310	N	0.999999	B	0.31209	0.313	B	0.29077	0.098	T	0.46803	-0.9165	10	0.22109	T	0.4	.	4.924	0.13883	0.1611:0.2753:0.0:0.5635	.	38	P19075	TSN8_HUMAN	N	38	ENSP00000377003:D38N;ENSP00000247829:D38N;ENSP00000447160:D38N	ENSP00000247829:D38N	D	-	1	0	TSPAN8	69824209	0.001000	0.12720	0.008000	0.14137	0.002000	0.02628	-0.562000	0.05950	-0.128000	0.11641	0.655000	0.94253	GAC	TSPAN8	-	pfam_Tetraspanin/Peripherin		0.303	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	HGNC	protein_coding	OTTHUMT00000404737.1	C	NM_004616		71537942	-1	no_errors	ENST00000247829	ensembl	human	known	70_37	missense	SNP	0.015	T
TSPEAR	54084	genome.wustl.edu	37	21	45929254	45929254	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr21:45929254C>T	ENST00000323084.4	-	10	1647	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	TSPEAR-AS1_ENST00000430181.1_RNA|TSPEAR_ENST00000397916.1_Missense_Mutation_p.D460N|TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	528					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.D528N(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACCTCCCAGTCTGCAGCACCG	0.602																																																	2	Substitution - Missense(2)	cervix(1)|breast(1)											100.0	72.0	81.0					21																	45929254		2203	4300	6503	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1582G>A	21.37:g.45929254C>T	ENSP00000321987:p.Asp528Asn			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.D528N	ENST00000323084.4	37	c.1582	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542510	0.85917	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	D;D	0.82255	-1.59;-1.59	3.98	3.98	0.46160	.	0.053040	0.85682	D	0.000000	D	0.89832	0.6829	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.91219	0.5005	10	0.62326	D	0.03	-21.8433	17.0238	0.86440	0.0:1.0:0.0:0.0	.	528	Q8WU66	TSEAR_HUMAN	N	528;381;460;529	ENSP00000321987:D528N;ENSP00000381012:D460N	ENSP00000321987:D528N	D	-	1	0	TSPEAR	44753682	1.000000	0.71417	0.915000	0.36163	0.584000	0.36387	7.060000	0.76692	2.164000	0.68074	0.558000	0.71614	GAC	TSPEAR	-	pfam_EPTP,pfscan_EAR		0.602	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	C	NM_144991		45929254	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	missense	SNP	1.000	T
TTBK1	84630	genome.wustl.edu	37	6	43250774	43250774	+	Missense_Mutation	SNP	G	G	A	rs547218408		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:43250774G>A	ENST00000259750.4	+	14	2379	c.2296G>A	c.(2296-2298)Gag>Aag	p.E766K		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	766	Glu-rich.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E766K(1)		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)			agaggaggaggaggaagagga	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		16622	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	cervix(1)											14.0	13.0	14.0					6																	43250774		2199	4294	6493	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.2296G>A	6.37:g.43250774G>A	ENSP00000259750:p.Glu766Lys		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.E766K	ENST00000259750.4	37	c.2296	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407803	0.25378	.	.	ENSG00000146216	ENST00000259750	T	0.33654	1.4	4.53	4.53	0.55603	.	0.182469	0.22768	U	0.055869	T	0.11965	0.0291	N	0.22421	0.69	0.80722	D	1	B	0.31100	0.308	B	0.20955	0.032	T	0.05566	-1.0877	10	0.22706	T	0.39	.	16.0142	0.80425	0.0:0.0:1.0:0.0	.	766	Q5TCY1	TTBK1_HUMAN	K	766	ENSP00000259750:E766K	ENSP00000259750:E766K	E	+	1	0	TTBK1	43358752	0.985000	0.35326	0.109000	0.21407	0.135000	0.20990	5.067000	0.64357	2.044000	0.60594	0.555000	0.69702	GAG	TTBK1	-	NULL		0.597	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	G			43250774	+1	no_errors	ENST00000259750	ensembl	human	known	70_37	missense	SNP	0.904	A
TTBK2	146057	genome.wustl.edu	37	15	43044395	43044395	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:43044395C>G	ENST00000267890.6	-	14	3157	c.3049G>C	c.(3049-3051)Gag>Cag	p.E1017Q		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1017					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E1017Q(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGCACTTCCTCCTCACAAAAG	0.458																																																	1	Substitution - Missense(1)	cervix(1)											94.0	92.0	93.0					15																	43044395		1932	4129	6061	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3049G>C	15.37:g.43044395C>G	ENSP00000267890:p.Glu1017Gln		O94932|Q6ZN52|Q8IVV1	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.E1017Q	ENST00000267890.6	37	c.3049	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764884	0.49574	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.54479	0.57	5.78	5.78	0.91487	.	0.055436	0.64402	D	0.000002	T	0.54351	0.1853	M	0.62723	1.935	0.80722	D	1	P;P	0.39216	0.664;0.534	B;B	0.35971	0.215;0.107	T	0.60525	-0.7246	10	0.87932	D	0	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	948;1017	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	Q	1017;947;1422	ENSP00000267890:E1017Q	ENSP00000263802:E1422Q	E	-	1	0	TTBK2	40831687	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.802000	0.55553	2.734000	0.93682	0.563000	0.77884	GAG	TTBK2	-	NULL		0.458	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	C	NM_173500		43044395	-1	no_errors	ENST00000267890	ensembl	human	known	70_37	missense	SNP	1.000	G
TTC12	54970	genome.wustl.edu	37	11	113212396	113212396	+	Intron	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:113212396C>T	ENST00000529221.1	+	12	1001				TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000483239.2_Intron|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000314756.3_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GCCTGGGACTCATGGTTCCGT	0.517																																																	0																																										SO:0001627	intron_variant	54970			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.897-163C>T	11.37:g.113212396C>T			Q8N5H9|Q9NWY3	RNA	SNP	-	NULL	ENST00000529221.1	37	NULL	CCDS8360.2	11																																																																																			TTC12	-	-		0.517	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC12	HGNC	protein_coding	OTTHUMT00000286455.2	C	NM_017868		113212396	+1	no_errors	ENST00000478125	ensembl	human	known	70_37	rna	SNP	0.102	T
TTC12	54970	genome.wustl.edu	37	11	113230727	113230727	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:113230727G>A	ENST00000529221.1	+	18	1716	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	TTC12_ENST00000483239.2_Silent_p.L543L|TTC12_ENST00000393020.1_Silent_p.L537L|TTC12_ENST00000314756.3_Silent_p.L537L	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	537								p.L537L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAGGAATCCTGACAGTAAGTT	0.423																																																	1	Substitution - coding silent(1)	cervix(1)											72.0	62.0	65.0					11																	113230727		2200	4295	6495	SO:0001819	synonymous_variant	54970			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1611G>A	11.37:g.113230727G>A			Q8N5H9|Q9NWY3	Silent	SNP	pfam_TPR-1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L537	ENST00000529221.1	37	c.1611	CCDS8360.2	11																																																																																			TTC12	-	superfamily_ARM-type_fold		0.423	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC12	HGNC	protein_coding	OTTHUMT00000286455.2	G	NM_017868		113230727	+1	no_errors	ENST00000314756	ensembl	human	known	70_37	silent	SNP	0.983	A
TTC29	83894	genome.wustl.edu	37	4	147830196	147830196	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:147830196C>G	ENST00000325106.4	-	5	608	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	TTC29_ENST00000398886.4_Missense_Mutation_p.E154Q|TTC29_ENST00000513335.1_Missense_Mutation_p.E154Q	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	128								p.E128Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCAGCGTCCTCAGCCCTGGTC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											107.0	108.0	108.0					4																	147830196		1975	4160	6135	SO:0001583	missense	83894			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.382G>C	4.37:g.147830196C>G	ENSP00000316740:p.Glu128Gln		A4GU95|Q9BXB6	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.E154Q	ENST00000325106.4	37	c.460	CCDS47141.1	4	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136265	0.77662	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	M	0.78801	2.425	0.37505	D	0.916935	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.54603	-0.8269	10	0.66056	D	0.02	-20.6676	18.7522	0.91820	0.0:1.0:0.0:0.0	.	128;154;128	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	Q	154;154;128;128;128	ENSP00000423505:E154Q;ENSP00000381861:E154Q;ENSP00000316740:E128Q;ENSP00000425778:E128Q	ENSP00000316740:E128Q	E	-	1	0	TTC29	148049646	0.995000	0.38212	0.299000	0.25016	0.296000	0.27459	3.413000	0.52686	2.489000	0.83994	0.655000	0.94253	GAG	TTC29	-	NULL		0.562	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	HGNC	protein_coding		C	NM_031956		147830196	-1	no_errors	ENST00000398886	ensembl	human	known	70_37	missense	SNP	0.967	G
TTC30A	92104	genome.wustl.edu	37	2	178481445	178481445	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:178481445C>A	ENST00000355689.5	-	1	2249	c.1985G>T	c.(1984-1986)gGa>gTa	p.G662V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	662					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.G662V(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CTTATTCCATCCTATAATCTC	0.343																																																	1	Substitution - Missense(1)	cervix(1)											148.0	149.0	148.0					2																	178481445		2203	4300	6503	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1985G>T	2.37:g.178481445C>A	ENSP00000347915:p.Gly662Val		A8K8N0|Q8IVP2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.G662V	ENST00000355689.5	37	c.1985	CCDS2276.1	2	.	.	.	.	.	.	.	.	.	.	C	7.830	0.719668	0.15372	.	.	ENSG00000197557	ENST00000355689;ENST00000545660	T	0.19250	2.16	5.83	4.03	0.46877	.	0.200819	0.52532	D	0.000067	T	0.16171	0.0389	N	0.08118	0	0.80722	D	1	P	0.45634	0.863	P	0.49192	0.602	T	0.07121	-1.0789	10	0.87932	D	0	.	10.2172	0.43175	0.0:0.6762:0.2564:0.0674	.	662	Q86WT1	TT30A_HUMAN	V	662;123	ENSP00000347915:G662V	ENSP00000347915:G662V	G	-	2	0	TTC30A	178189691	0.987000	0.35691	0.917000	0.36280	0.073000	0.16967	3.245000	0.51407	0.821000	0.34540	-0.282000	0.10007	GGA	TTC30A	-	NULL		0.343	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30A	HGNC	protein_coding	OTTHUMT00000255728.2	C	NM_152275		178481445	-1	no_errors	ENST00000355689	ensembl	human	known	70_37	missense	SNP	0.821	A
TTF2	8458	genome.wustl.edu	37	1	117626692	117626692	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:117626692G>A	ENST00000369466.4	+	11	2000	c.1956G>A	c.(1954-1956)ctG>ctA	p.L652L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	652	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.L652L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGCCTCCCTGATCCATCATT	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											192.0	170.0	178.0					1																	117626692		2203	4300	6503	SO:0001819	synonymous_variant	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1956G>A	1.37:g.117626692G>A			A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L652	ENST00000369466.4	37	c.1956	CCDS892.1	1																																																																																			TTF2	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.453	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	G			117626692	+1	no_errors	ENST00000369466	ensembl	human	known	70_37	silent	SNP	1.000	A
TTLL6	284076	genome.wustl.edu	37	17	46868950	46868950	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:46868950G>A	ENST00000393382.3	-	9	1155	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	TTLL6_ENST00000433608.2_Silent_p.F31F	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGTATGCACTGAAGGTGGAGA	0.557											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													206.0	149.0	168.0					17																	46868950		2203	4300	6503	SO:0001819	synonymous_variant	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1014C>T	17.37:g.46868950G>A		942		Silent	SNP	pfam_Tub_tyr_ligase	p.F338	ENST00000393382.3	37	c.1014	CCDS45724.1	17																																																																																			TTLL6	-	pfam_Tub_tyr_ligase		0.557	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	G	NM_173623		46868950	-1	no_errors	ENST00000393382	ensembl	human	known	70_37	silent	SNP	0.965	A
TTN	7273	genome.wustl.edu	37	2	179396631	179396631	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:179396631C>G	ENST00000591111.1	-	308	100012	c.99788G>C	c.(99787-99789)aGa>aCa	p.R33263T	TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25839T|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34904T|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26031T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32336T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25964T|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33263					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.R32336T(1)|p.R32334T(1)|p.R26031T(1)|p.R25839T(1)|p.R25964T(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)			GATATCAAATCTTGCAGACCT	0.453																																																	5	Substitution - Missense(5)	cervix(5)											63.0	57.0	59.0					2																	179396631		1910	4125	6035	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.99788G>C	2.37:g.179396631C>G	ENSP00000465570:p.Arg33263Thr		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.R32336T	ENST00000591111.1	37	c.97007		2	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464865	0.43839	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.71341	-0.56;-0.31;-0.33;-0.34	5.56	5.56	0.83823	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.71392	0.3334	N	0.24115	0.695	0.43508	D	0.995769	D;D;D;D	0.63880	0.993;0.993;0.993;0.993	P;P;P;P	0.53954	0.738;0.738;0.738;0.738	T	0.75616	-0.3256	9	0.87932	D	0	.	19.5233	0.95194	0.0:1.0:0.0:0.0	.	25839;25964;26031;33263	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	32336;25839;26031;25964;25836	ENSP00000343764:R32336T;ENSP00000434586:R25839T;ENSP00000340554:R26031T;ENSP00000352154:R25964T	ENSP00000340554:R26031T	R	-	2	0	TTN	179104877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.935000	0.70145	2.615000	0.88500	0.650000	0.86243	AGA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179396631	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179437859	179437859	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:179437859C>G	ENST00000591111.1	-	276	68301	c.68077G>C	c.(68077-68079)Gat>Cat	p.D22693H	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15269H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D24334H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D15461H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D21766H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15394H|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22693	Fibronectin type-III 65. {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.D15461H(1)|p.D21766H(1)|p.D15394H(1)|p.D15269H(1)|p.D21764H(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)			CTGCTTGTATCCAGAACACGT	0.448																																																	5	Substitution - Missense(5)	cervix(5)											106.0	100.0	102.0					2																	179437859		1920	4145	6065	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.68077G>C	2.37:g.179437859C>G	ENSP00000465570:p.Asp22693His		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.D21766H	ENST00000591111.1	37	c.65296		2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737318	0.30774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.08	5.19	0.71726	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77824	0.4188	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.67900	0.954;0.954;0.954;0.934	T	0.82390	-0.0481	9	0.87932	D	0	.	15.784	0.78289	0.0:0.9343:0.0:0.0657	.	15269;15394;15461;22693	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	21766;15269;15461;15394;15267	ENSP00000343764:D21766H;ENSP00000434586:D15269H;ENSP00000340554:D15461H;ENSP00000352154:D15394H	ENSP00000340554:D15461H	D	-	1	0	TTN	179146105	1.000000	0.71417	0.813000	0.32504	0.911000	0.54048	7.818000	0.86416	1.558000	0.49541	0.655000	0.94253	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179437859	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179449409	179449409	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:179449409C>T	ENST00000591111.1	-	260	60260	c.60036G>A	c.(60034-60036)gcG>gcA	p.A20012A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.A12588A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Silent_p.A21653A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.A12780A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.A19085A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.A12713A|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20012	Fibronectin type-III 44. {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.A19083A(1)|p.A12588A(1)|p.A19085A(1)|p.A12780A(1)|p.A12713A(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)			ATGGGAACTGCGCAACCATCT	0.433																																																	5	Substitution - coding silent(5)	cervix(5)											173.0	169.0	170.0					2																	179449409		1883	4110	5993	SO:0001819	synonymous_variant	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.60036G>A	2.37:g.179449409C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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.A19085	ENST00000591111.1	37	c.57255		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179449409	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.965	T
TTN	7273	genome.wustl.edu	37	2	179501443	179501443	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:179501443C>T	ENST00000591111.1	-	175	36312	c.36088G>A	c.(36088-36090)Gaa>Aaa	p.E12030K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4606K|TTN_ENST00000589042.1_Missense_Mutation_p.E13671K|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4798K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11103K|TTN_ENST00000359218.5_Missense_Mutation_p.E4731K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12030	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)	p.E11103K(2)|p.E4606K(1)|p.E4798K(1)|p.E4731K(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)			AACGGGGCTTCATCAGGAGGT	0.443																																																	5	Substitution - Missense(5)	cervix(5)											70.0	69.0	69.0					2																	179501443		1903	4127	6030	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.36088G>A	2.37:g.179501443C>T	ENSP00000465570:p.Glu12030Lys		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.E11103K	ENST00000591111.1	37	c.33307		2	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310988	0.60414	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70749	-0.51;-0.24;-0.25;-0.26	5.42	5.42	0.78866	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.66499	0.2795	L	0.55481	1.735	0.80722	D	1	P;P;P;P	0.39665	0.682;0.682;0.682;0.682	B;B;B;B	0.31390	0.129;0.129;0.129;0.129	T	0.72530	-0.4265	9	0.87932	D	0	.	19.5804	0.95465	0.0:1.0:0.0:0.0	.	4606;4731;4798;12030	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	11103;4606;4798;4731;4606	ENSP00000343764:E11103K;ENSP00000434586:E4606K;ENSP00000340554:E4798K;ENSP00000352154:E4731K	ENSP00000340554:E4798K	E	-	1	0	TTN	179209688	1.000000	0.71417	0.997000	0.53966	0.740000	0.42216	7.729000	0.84864	2.696000	0.92011	0.650000	0.86243	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179501443	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTR	7276	genome.wustl.edu	37	18	29171890	29171890	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:29171890C>G	ENST00000237014.3	+	1	202	c.25C>G	c.(25-27)Ctc>Gtc	p.L9V		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	9					extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)	p.L9V(1)		cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCTGCTCCTCCTCTGCCTTGC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											199.0	151.0	167.0					18																	29171890		2203	4300	6503	SO:0001583	missense	7276			M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"""prealbumin, amyloidosis type I"", ""carpal tunnel syndrome 1"""	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.25C>G	18.37:g.29171890C>G	ENSP00000237014:p.Leu9Val		Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase	p.L9V	ENST00000237014.3	37	c.25	CCDS11899.1	18	.	.	.	.	.	.	.	.	.	.	C	1.856	-0.463756	0.04476	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.95656	-3.77	5.85	3.96	0.45880	.	0.300127	0.30704	N	0.009059	D	0.89262	0.6665	N	0.25286	0.73	0.36813	D	0.885992	B	0.14012	0.009	B	0.14578	0.011	D	0.85173	0.0999	10	0.17369	T	0.5	-9.6305	9.803	0.40775	0.0:0.7139:0.2082:0.0779	.	9	P02766	TTHY_HUMAN	V	9	ENSP00000237014:L9V	ENSP00000237014:L9V	L	+	1	0	TTR	27425888	0.942000	0.31987	0.861000	0.33841	0.075000	0.17131	0.956000	0.29202	1.480000	0.48289	0.585000	0.79938	CTC	TTR	-	NULL		0.502	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTR	HGNC	protein_coding	OTTHUMT00000254948.1	C	NM_000371		29171890	+1	no_errors	ENST00000237014	ensembl	human	known	70_37	missense	SNP	0.978	G
TUB	7275	genome.wustl.edu	37	11	8119290	8119290	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:8119290G>C	ENST00000299506.2	+	8	1064	c.915G>C	c.(913-915)aaG>aaC	p.K305N	TUB_ENST00000305253.4_Missense_Mutation_p.K360N|TUB_ENST00000534099.1_Missense_Mutation_p.K311N	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	305					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)	p.K360N(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGAAGAGAAAGAAGAGTAAAA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											152.0	161.0	158.0					11																	8119290		2201	4296	6497	SO:0001583	missense	7275			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.915G>C	11.37:g.8119290G>C	ENSP00000299506:p.Lys305Asn		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.K360N	ENST00000299506.2	37	c.1080	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938996	0.73557	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.97256	-4.31;-4.31;-4.31	4.7	4.7	0.59300	Tubby, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.99;0.998;0.997	D	0.99748	1.1017	10	0.87932	D	0	-4.021	17.9944	0.89178	0.0:0.0:1.0:0.0	.	311;305;360	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	N	311;360;305	ENSP00000434400:K311N;ENSP00000305426:K360N;ENSP00000299506:K305N	ENSP00000299506:K305N	K	+	3	2	TUB	8075866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.145000	0.58065	2.327000	0.79052	0.585000	0.79938	AAG	TUB	-	pfam_Tubby_C,superfamily_Tubby_C-like		0.517	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	G	NM_003320		8119290	+1	no_errors	ENST00000305253	ensembl	human	known	70_37	missense	SNP	1.000	C
TUBB3	10381	genome.wustl.edu	37	16	90001669	90001669	+	Silent	SNP	C	C	T	rs551650733		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:90001669C>T	ENST00000315491.7	+	4	933	c.810C>T	c.(808-810)ttC>ttT	p.F270F	TUBB3_ENST00000304984.5_Silent_p.F198F|TUBB3_ENST00000554444.1_Silent_p.F198F|TUBB3_ENST00000556922.1_Silent_p.F617F|TUBB3_ENST00000555576.1_Intron	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	270					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|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)	p.F270F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	TGCCCGGCTTCGCCCCCCTCA	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		18654	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	cervix(1)											41.0	43.0	42.0					16																	90001669		2198	4300	6498	SO:0001819	synonymous_variant	10381			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.810C>T	16.37:g.90001669C>T			A8K854|Q9BTZ0|Q9BW10	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.F270	ENST00000315491.7	37	c.810	CCDS10988.1	16																																																																																			TUBB3	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin		0.677	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB3	Uniprot_genename	protein_coding	OTTHUMT00000272874.1	C	NM_006086		90001669	+1	no_errors	ENST00000315491	ensembl	human	known	70_37	silent	SNP	0.912	T
TUBGCP2	10844	genome.wustl.edu	37	10	135112976	135112976	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:135112976C>T	ENST00000252936.3	-	3	450	c.411G>A	c.(409-411)ctG>ctA	p.L137L	TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000417178.2_Silent_p.L7L|TUBGCP2_ENST00000368563.2_Silent_p.L137L|TUBGCP2_ENST00000543663.1_Silent_p.L137L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	137					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.L137L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		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;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCTGCTTCCTCAGTTCCTCAA	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											64.0	54.0	57.0					10																	135112976		2203	4300	6503	SO:0001819	synonymous_variant	10844			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.411G>A	10.37:g.135112976C>T			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_Spc97_Spc98,superfamily_Ocr	p.L137	ENST00000252936.3	37	c.411	CCDS7676.1	10																																																																																			TUBGCP2	-	NULL		0.622	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	C			135112976	-1	no_errors	ENST00000543663	ensembl	human	known	70_37	silent	SNP	1.000	T
TXLNB	167838	genome.wustl.edu	37	6	139583895	139583895	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:139583895G>A	ENST00000358430.3	-	5	935	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	235						cytoplasm (GO:0005737)		p.R235W(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCACGTGCCCGCTGAAGCGCC	0.478																																																	1	Substitution - Missense(1)	cervix(1)											132.0	104.0	114.0					6																	139583895		2203	4300	6503	SO:0001583	missense	167838				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.703C>T	6.37:g.139583895G>A	ENSP00000351206:p.Arg235Trp		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	pfam_Taxilin_fam	p.R235W	ENST00000358430.3	37	c.703	CCDS34545.1	6	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089226	0.55968	.	.	ENSG00000164440	ENST00000358430	T	0.34667	1.35	5.75	1.35	0.21983	.	0.050996	0.85682	D	0.000000	T	0.52581	0.1743	M	0.82323	2.585	0.46542	D	0.999099	D	0.89917	1.0	D	0.91635	0.999	T	0.63839	-0.6546	9	.	.	.	-21.2	16.8802	0.86061	0.0:0.0:0.5342:0.4658	.	235	Q8N3L3	TXLNB_HUMAN	W	235	ENSP00000351206:R235W	.	R	-	1	2	TXLNB	139625588	0.998000	0.40836	1.000000	0.80357	0.890000	0.51754	0.487000	0.22356	0.310000	0.22990	-0.274000	0.10170	CGG	TXLNB	-	pfam_Taxilin_fam		0.478	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1	G	NM_153235		139583895	-1	no_errors	ENST00000358430	ensembl	human	known	70_37	missense	SNP	0.998	A
TXNDC16	57544	genome.wustl.edu	37	14	52986004	52986004	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:52986004G>C	ENST00000281741.4	-	7	771	c.400C>G	c.(400-402)Ctt>Gtt	p.L134V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	134					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.L134V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TCACTAAAAAGAAGAGCACTG	0.294																																																	1	Substitution - Missense(1)	cervix(1)											53.0	57.0	55.0					14																	52986004		2200	4289	6489	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.400C>G	14.37:g.52986004G>C	ENSP00000281741:p.Leu134Val		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.L134V	ENST00000281741.4	37	c.400	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972019	0.74246	.	.	ENSG00000087301	ENST00000281741	T	0.48522	0.81	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.68375	0.2994	M	0.72894	2.215	0.51482	D	0.99992	D	0.89917	1.0	D	0.74348	0.983	T	0.70757	-0.4785	10	0.72032	D	0.01	-38.0559	17.0775	0.86590	0.0:0.0:1.0:0.0	.	134	Q9P2K2	TXD16_HUMAN	V	134	ENSP00000281741:L134V	ENSP00000281741:L134V	L	-	1	0	TXNDC16	52055754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.779000	0.62375	2.630000	0.89119	0.655000	0.94253	CTT	TXNDC16	-	NULL		0.294	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	G	XM_051699		52986004	-1	no_errors	ENST00000281741	ensembl	human	known	70_37	missense	SNP	1.000	C
TXNIP	10628	genome.wustl.edu	37	1	145440941	145440941	+	Missense_Mutation	SNP	G	G	C	rs72563166	byFrequency	TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:145440941G>C	ENST00000369317.4	+	7	1362	c.1028G>C	c.(1027-1029)cGa>cCa	p.R343P	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	343					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.R343P(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAAGATCACCGATTGGAGAGC	0.473																																																	1	Substitution - Missense(1)	cervix(1)											161.0	157.0	158.0					1																	145440941		2203	4300	6503	SO:0001583	missense	10628			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1028G>C	1.37:g.145440941G>C	ENSP00000358323:p.Arg343Pro		B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.R343P	ENST00000369317.4	37	c.1028	CCDS913.1	1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949468	0.53186	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.12984	3.03;2.63	5.18	4.27	0.50696	.	0.203990	0.40469	N	0.001092	T	0.09992	0.0245	L	0.34521	1.04	0.40746	D	0.982876	D;D	0.67145	0.983;0.996	P;P	0.56278	0.701;0.795	T	0.15350	-1.0440	10	0.27082	T	0.32	-18.6834	11.6792	0.51448	0.0855:0.0:0.9145:0.0	.	288;343	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	P	343;288	ENSP00000358323:R343P;ENSP00000396322:R288P	ENSP00000358323:R343P	R	+	2	0	TXNIP	144152298	1.000000	0.71417	0.625000	0.29200	0.848000	0.48234	6.491000	0.73649	1.432000	0.47375	-0.150000	0.13652	CGA	TXNIP	-	NULL		0.473	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	G	NM_006472		145440941	+1	no_errors	ENST00000369317	ensembl	human	known	70_37	missense	SNP	0.798	C
TYW5	129450	genome.wustl.edu	37	2	200820176	200820176	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:200820176G>A	ENST00000354611.4	-	1	283	c.18C>T	c.(16-18)ctC>ctT	p.L6L	C2orf47_ENST00000295079.2_Intron|C2orf69_ENST00000491721.1_3'UTR|C2orf47_ENST00000392290.1_5'Flank|TYW5_ENST00000452512.2_5'UTR	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	6					wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|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)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.L6L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						GGGGTACCGGGAGGTGCTGCC	0.652																																																	1	Substitution - coding silent(1)	cervix(1)											23.0	28.0	27.0					2																	200820176		1946	4154	6100	SO:0001819	synonymous_variant	129450			AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 60"""	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.18C>T	2.37:g.200820176G>A			B2RNE3|Q8N1R2	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L6	ENST00000354611.4	37	c.18	CCDS42795.1	2																																																																																			TYW5	-	NULL		0.652	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW5	HGNC	protein_coding	OTTHUMT00000256144.3	G	NM_001039693		200820176	-1	no_errors	ENST00000354611	ensembl	human	known	70_37	silent	SNP	0.000	A
U2SURP	23350	genome.wustl.edu	37	3	142735174	142735174	+	Missense_Mutation	SNP	A	A	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:142735174A>G	ENST00000473835.2	+	5	487	c.397A>G	c.(397-399)Aaa>Gaa	p.K133E	U2SURP_ENST00000493598.2_Missense_Mutation_p.K133E|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	133					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K133E(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TAATAAAGTGAAAACATTTGT	0.353																																																	1	Substitution - Missense(1)	cervix(1)											170.0	164.0	166.0					3																	142735174		1840	4093	5933	SO:0001583	missense	23350			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.397A>G	3.37:g.142735174A>G	ENSP00000418563:p.Lys133Glu		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom	p.K133E	ENST00000473835.2	37	c.397	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	A	32	5.107642	0.94292	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.14266	2.52;2.53	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.997;0.992	T	0.40079	-0.9582	10	0.59425	D	0.04	-22.1635	16.2473	0.82450	1.0:0.0:0.0:0.0	.	133;133;133	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	E	133;133;133;133;103	ENSP00000418563:K133E;ENSP00000422011:K133E	ENSP00000322376:K133E	K	+	1	0	U2SURP	144217864	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.774000	0.91767	2.238000	0.73509	0.533000	0.62120	AAA	U2SURP	-	NULL		0.353	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	A	NM_001080415		142735174	+1	no_errors	ENST00000319822	ensembl	human	known	70_37	missense	SNP	1.000	G
U2SURP	23350	genome.wustl.edu	37	3	142773937	142773937	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:142773937G>C	ENST00000473835.2	+	27	3017	c.2927G>C	c.(2926-2928)aGa>aCa	p.R976T	U2SURP_ENST00000397933.2_Missense_Mutation_p.R567T|U2SURP_ENST00000493598.2_Missense_Mutation_p.R975T	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	976	Arg/Ser-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GATTCTCCTAGAGATGTTAGC	0.388																																																	0													45.0	41.0	42.0					3																	142773937		1871	4100	5971	SO:0001583	missense	23350			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2927G>C	3.37:g.142773937G>C	ENSP00000418563:p.Arg976Thr		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom	p.R976T	ENST00000473835.2	37	c.2927	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533045	0.64972	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598	T;T;T	0.20598	2.27;2.06;2.27	5.87	5.0	0.66597	.	0.086882	0.85682	D	0.000000	T	0.21962	0.0529	L	0.40543	1.245	0.80722	D	1	B;B;B	0.30281	0.275;0.275;0.18	B;B;B	0.33890	0.172;0.077;0.083	T	0.02885	-1.1098	10	0.48119	T	0.1	-17.313	15.3748	0.74596	0.0668:0.0:0.9332:0.0	.	975;567;976	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	T	976;976;567;975	ENSP00000418563:R976T;ENSP00000381027:R567T;ENSP00000422011:R975T	ENSP00000322376:R976T	R	+	2	0	U2SURP	144256627	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.184000	0.94893	1.632000	0.50472	-0.140000	0.14226	AGA	U2SURP	-	NULL		0.388	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	G	NM_001080415		142773937	+1	no_errors	ENST00000319822	ensembl	human	known	70_37	missense	SNP	1.000	C
UAP1	6675	genome.wustl.edu	37	1	162546701	162546701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:162546701C>T	ENST00000367925.1	+	2	447	c.415C>T	c.(415-417)Caa>Taa	p.Q139*	UAP1_ENST00000271469.3_Nonsense_Mutation_p.Q139*|UAP1_ENST00000367926.4_Nonsense_Mutation_p.Q139*|UAP1_ENST00000367924.1_Nonsense_Mutation_p.Q139*			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	139					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|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)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.Q139*(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTTTCAGATTCAAGCAGAGCG	0.443																																																	1	Substitution - Nonsense(1)	cervix(1)											120.0	109.0	112.0					1																	162546701		2203	4300	6503	SO:0001587	stop_gained	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.415C>T	1.37:g.162546701C>T	ENSP00000356902:p.Gln139*		B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Nonsense_Mutation	SNP	pfam_UDPGP_trans	p.Q139*	ENST00000367925.1	37	c.415		1	.	.	.	.	.	.	.	.	.	.	C	35	5.584672	0.96578	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.1015	17.5095	0.87756	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000271469:Q139X	Q	+	1	0	UAP1	160813325	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.519000	0.81809	2.550000	0.86006	0.591000	0.81541	CAA	UAP1	-	pfam_UDPGP_trans		0.443	UAP1-002	KNOWN	basic	protein_coding	UAP1	HGNC	protein_coding	OTTHUMT00000083203.1	C	NM_003115		162546701	+1	no_errors	ENST00000271469	ensembl	human	known	70_37	nonsense	SNP	1.000	T
UAP1	6675	genome.wustl.edu	37	1	162560263	162560263	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:162560263C>T	ENST00000367925.1	+	7	1352	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	UAP1_ENST00000271469.3_Silent_p.F440F|UAP1_ENST00000367926.4_Silent_p.F440F|UAP1_ENST00000367924.1_Silent_p.F440F|RP11-359K18.4_ENST00000609669.1_RNA			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	440					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|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)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.F440F(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGGGCCATTTCATAGATGAAA	0.448																																																	1	Substitution - coding silent(1)	cervix(1)											107.0	100.0	102.0					1																	162560263		2203	4300	6503	SO:0001819	synonymous_variant	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1320C>T	1.37:g.162560263C>T			B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	pfam_UDPGP_trans	p.F440	ENST00000367925.1	37	c.1320		1																																																																																			UAP1	-	pfam_UDPGP_trans		0.448	UAP1-002	KNOWN	basic	protein_coding	UAP1	HGNC	protein_coding	OTTHUMT00000083203.1	C	NM_003115		162560263	+1	no_errors	ENST00000271469	ensembl	human	known	70_37	silent	SNP	1.000	T
UBA1	7317	genome.wustl.edu	37	X	47071825	47071825	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:47071825G>A	ENST00000335972.6	+	21	2650	c.2467G>A	c.(2467-2469)Gac>Aac	p.D823N	UBA1_ENST00000377269.3_Missense_Mutation_p.D271N|UBA1_ENST00000377351.4_Missense_Mutation_p.D823N	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	823					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.D823N(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCATGCAGATGACAGTCGTCT	0.527																																																	1	Substitution - Missense(1)	cervix(1)											57.0	41.0	47.0					X																	47071825		2202	4300	6502	SO:0001583	missense	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2467G>A	X.37:g.47071825G>A	ENSP00000338413:p.Asp823Asn		Q5JRR8|Q96E13	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.D823N	ENST00000335972.6	37	c.2467	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866912	0.51588	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.47177	0.85;0.85;0.85	5.01	5.01	0.66863	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.56097	D	0.000028	T	0.46983	0.1421	M	0.62209	1.925	0.58432	D	0.999997	B;B	0.26809	0.111;0.16	B;B	0.25140	0.045;0.058	T	0.41893	-0.9483	10	0.30854	T	0.27	-19.5419	16.4019	0.83643	0.0:0.0:1.0:0.0	.	271;823	Q5JRR6;P22314	.;UBA1_HUMAN	N	823;823;271	ENSP00000366568:D823N;ENSP00000338413:D823N;ENSP00000366481:D271N	ENSP00000338413:D823N	D	+	1	0	UBA1	46956769	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.899000	0.63245	2.214000	0.71695	0.523000	0.50628	GAC	UBA1	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1		0.527	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	G	NM_003334		47071825	+1	no_errors	ENST00000335972	ensembl	human	known	70_37	missense	SNP	1.000	A
UBE2J2	118424	genome.wustl.edu	37	1	1203298	1203298	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:1203298C>G	ENST00000349431.6	-	2	294	c.75G>C	c.(73-75)aaG>aaC	p.K25N	UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000360466.2_Missense_Mutation_p.K25N|UBE2J2_ENST00000400930.4_Missense_Mutation_p.K25N	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	25					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.K25N(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_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;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCGGGTCTTTCTTAATGCGAA	0.572																																																	1	Substitution - Missense(1)	cervix(1)											235.0	252.0	246.0					1																	1203298		2203	4300	6503	SO:0001583	missense	118424			AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	19268	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.75G>C	1.37:g.1203298C>G	ENSP00000305826:p.Lys25Asn		A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K25N	ENST00000349431.6	37	c.75	CCDS14.1	1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630176	0.28978	.	.	ENSG00000160087	ENST00000349431;ENST00000360466;ENST00000400930;ENST00000435198;ENST00000422076;ENST00000502382;ENST00000488418	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	5.72	3.53	0.40419	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.085947	0.85682	D	0.000000	T	0.46386	0.1390	L	0.48362	1.52	0.80722	D	1	D;P	0.58620	0.983;0.898	P;P	0.61477	0.889;0.555	T	0.31696	-0.9934	10	0.33141	T	0.24	.	12.0109	0.53286	0.0:0.832:0.0:0.168	.	25;25	A8MYC7;Q8N2K1	.;UB2J2_HUMAN	N	25	ENSP00000305826:K25N;ENSP00000353653:K25N;ENSP00000383719:K25N;ENSP00000393301:K25N;ENSP00000401898:K25N;ENSP00000424342:K25N	ENSP00000305826:K25N	K	-	3	2	UBE2J2	1193161	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	1.945000	0.40273	1.420000	0.47138	0.655000	0.94253	AAG	UBE2J2	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.572	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	UBE2J2	HGNC	protein_coding	OTTHUMT00000005430.1	C	NM_058167		1203298	-1	no_errors	ENST00000400930	ensembl	human	known	70_37	missense	SNP	1.000	G
UBE2J2	118424	genome.wustl.edu	37	1	1203343	1203343	+	Silent	SNP	C	C	T	rs553380104		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:1203343C>T	ENST00000349431.6	-	2	249	c.30G>A	c.(28-30)ccG>ccA	p.P10P	UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000348298.7_5'UTR|UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000360466.2_Silent_p.P10P|UBE2J2_ENST00000400930.4_Silent_p.P10P	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	10					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.P10P(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_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;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TTGCCGTGGTCGGAGCCCTCT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		15351	0.0		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	cervix(1)											242.0	258.0	253.0					1																	1203343		2203	4300	6503	SO:0001819	synonymous_variant	118424			AF296658	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	19268	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	Standard	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	Q8N2K1	OTTHUMG00000001911	ENST00000349431.6:c.30G>A	1.37:g.1203343C>T			A8MYC7|Q504T9|Q96N26|Q96T84	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P10	ENST00000349431.6	37	c.30	CCDS14.1	1																																																																																			UBE2J2	-	NULL		0.582	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	UBE2J2	HGNC	protein_coding	OTTHUMT00000005430.1	C	NM_058167		1203343	-1	no_errors	ENST00000400930	ensembl	human	known	70_37	silent	SNP	0.016	T
UBN2	254048	genome.wustl.edu	37	7	138946461	138946461	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:138946461G>C	ENST00000473989.3	+	6	1369	c.1369G>C	c.(1369-1371)Gaa>Caa	p.E457Q	UBN2_ENST00000288561.8_Missense_Mutation_p.E374Q	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	457						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E374Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGTACTTCTTGAAAAACGTAT	0.418																																																	1	Substitution - Missense(1)	cervix(1)											45.0	42.0	43.0					7																	138946461		1879	4111	5990	SO:0001583	missense	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1369G>C	7.37:g.138946461G>C	ENSP00000418648:p.Glu457Gln		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	NULL	p.E457Q	ENST00000473989.3	37	c.1369	CCDS43655.2	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.273915|4.273915	0.80580|0.80580	.|.	.|.	ENSG00000157741|ENSG00000157741	ENST00000473989;ENST00000288561|ENST00000483726	T;T|T	0.44083|0.56103	0.93;0.93|0.48	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.284576|.	0.41712|.	D|.	0.000837|.	T|T	0.65974|0.65974	0.2743|0.2743	L|L	0.55990|0.55990	1.75|1.75	0.41796|0.41796	D|D	0.989899|0.989899	D|.	0.71674|.	0.998|.	D|.	0.66084|.	0.941|.	T|T	0.58869|0.58869	-0.7560|-0.7560	9|6	.|.	.|.	.|.	-19.8885|-19.8885	20.6634|20.6634	0.99662|0.99662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	457|.	Q6ZU65|.	UBN2_HUMAN|.	Q|F	457;374|225	ENSP00000418648:E457Q;ENSP00000288561:E374Q|ENSP00000417846:L225F	.|.	E|L	+|+	1|3	0|2	UBN2|UBN2	138597001|138597001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.845000|4.845000	0.62853|0.62853	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAA|TTG	UBN2	-	NULL		0.418	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	G	NM_173569		138946461	+1	no_errors	ENST00000473989	ensembl	human	known	70_37	missense	SNP	0.994	C
UBQLN4	56893	genome.wustl.edu	37	1	156020186	156020186	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:156020186C>T	ENST00000368309.3	-	4	729	c.637G>A	c.(637-639)Gat>Aat	p.D213N	UBQLN4_ENST00000472638.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	213					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)	p.D213N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CGCATCAGATCAGGGTTAGAC	0.532																																																	1	Substitution - Missense(1)	cervix(1)											174.0	153.0	160.0					1																	156020186		2203	4300	6503	SO:0001583	missense	56893			BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.637G>A	1.37:g.156020186C>T	ENSP00000357292:p.Asp213Asn		A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.D213N	ENST00000368309.3	37	c.637	CCDS1127.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515544	0.85389	.	.	ENSG00000160803	ENST00000368309	T	0.79454	-1.27	4.49	4.49	0.54785	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.79470	0.4451	L	0.39514	1.22	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.73380	0.78;0.98	T	0.80763	-0.1237	10	0.51188	T	0.08	-31.7997	15.9589	0.79910	0.0:1.0:0.0:0.0	.	193;213	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	N	213	ENSP00000357292:D213N	ENSP00000357292:D213N	D	-	1	0	UBQLN4	154286810	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	5.833000	0.69349	2.342000	0.79632	0.561000	0.74099	GAT	UBQLN4	-	smart_STI1_HS-bd		0.532	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN4	HGNC	protein_coding	OTTHUMT00000046193.1	C	NM_020131		156020186	-1	no_errors	ENST00000368309	ensembl	human	known	70_37	missense	SNP	0.999	T
UBTD2	92181	genome.wustl.edu	37	5	171639088	171639088	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:171639088C>G	ENST00000393792.2	-	3	856	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	151						cytoplasm (GO:0005737)		p.E151Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTGACATTCATATCCAGAA	0.493																																																	1	Substitution - Missense(1)	cervix(1)											172.0	153.0	159.0					5																	171639088		2203	4300	6503	SO:0001583	missense	92181			AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"""dendritic cell derived ubiquitin like protein"""	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.451G>C	5.37:g.171639088C>G	ENSP00000377381:p.Glu151Gln		Q8TDQ3	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfscan_Ubiquitin_supergroup	p.E151Q	ENST00000393792.2	37	c.451	CCDS4379.2	5	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243036	0.79912	.	.	ENSG00000168246	ENST00000393792	T	0.30714	1.52	5.96	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	M	0.83953	2.67	0.80722	D	1	B	0.30793	0.295	B	0.34722	0.188	T	0.43956	-0.9359	10	0.66056	D	0.02	.	13.1696	0.59591	0.0:0.923:0.0:0.077	.	151	Q8WUN7	UBTD2_HUMAN	Q	151	ENSP00000377381:E151Q	ENSP00000377381:E151Q	E	-	1	0	UBTD2	171571693	1.000000	0.71417	0.645000	0.29479	0.939000	0.58152	7.475000	0.81041	1.533000	0.49186	0.655000	0.94253	GAA	UBTD2	-	NULL		0.493	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTD2	HGNC	protein_coding	OTTHUMT00000252936.1	C	NM_152277		171639088	-1	no_errors	ENST00000393792	ensembl	human	known	70_37	missense	SNP	0.999	G
UFL1	23376	genome.wustl.edu	37	6	96971061	96971061	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:96971061G>A	ENST00000369278.4	+	2	183	c.117G>A	c.(115-117)ttG>ttA	p.L39L	UFL1-AS1_ENST00000430796.1_RNA	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	39	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.L39L(1)									TTAATAAATTGATTGCTCAGA	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											125.0	126.0	126.0					6																	96971061		2203	4300	6503	SO:0001819	synonymous_variant	23376			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.117G>A	6.37:g.96971061G>A			A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	pfam_E3_UFM1_ligase_1	p.L39	ENST00000369278.4	37	c.117	CCDS5034.1	6																																																																																			UFL1	-	pfam_E3_UFM1_ligase_1		0.378	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	G	NM_015323		96971061	+1	no_errors	ENST00000369278	ensembl	human	known	70_37	silent	SNP	1.000	A
UGT2B15	7366	genome.wustl.edu	37	4	69528803	69528803	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:69528803G>C	ENST00000338206.5	-	3	937	c.928C>G	c.(928-930)Ctg>Gtg	p.L310V		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	310					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	ATCGACCCCAGAGAAAACACC	0.423																																																	0													33.0	32.0	32.0					4																	69528803		2179	4240	6419	SO:0001583	missense	7366			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.928C>G	4.37:g.69528803G>C	ENSP00000341045:p.Leu310Val		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L310V	ENST00000338206.5	37	c.928	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	g	11.51	1.661395	0.29515	.	.	ENSG00000196620	ENST00000338206	T	0.66099	-0.19	2.54	1.68	0.24146	.	0.098154	0.42053	U	0.000775	T	0.74351	0.3705	H	0.95679	3.705	0.23238	N	0.998066	P	0.43788	0.817	P	0.50896	0.653	T	0.68100	-0.5498	10	0.87932	D	0	.	3.1286	0.06415	0.1544:0.0:0.5845:0.2611	.	310	P54855	UDB15_HUMAN	V	310	ENSP00000341045:L310V	ENSP00000341045:L310V	L	-	1	2	UGT2B15	69211398	0.983000	0.35010	0.994000	0.49952	0.729000	0.41735	2.022000	0.41030	0.399000	0.25367	0.455000	0.32223	CTG	UGT2B15	-	pfam_UDP_glucos_trans		0.423	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	G	NM_001076		69528803	-1	no_errors	ENST00000338206	ensembl	human	known	70_37	missense	SNP	0.966	C
UHRF1BP1	54887	genome.wustl.edu	37	6	34826826	34826826	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:34826826C>T	ENST00000192788.5	+	14	2864	c.2693C>T	c.(2692-2694)tCa>tTa	p.S898L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S898L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	898							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.S898L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCTGCAGGCTCAGATAGCACT	0.537																																																	1	Substitution - Missense(1)	cervix(1)											49.0	49.0	49.0					6																	34826826		2047	4221	6268	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2693C>T	6.37:g.34826826C>T	ENSP00000192788:p.Ser898Leu		Q9NXE0	Missense_Mutation	SNP	NULL	p.S898L	ENST00000192788.5	37	c.2693	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294550	0.60086	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.19806	2.12;2.12	5.7	5.7	0.88788	.	0.333388	0.29537	N	0.011865	T	0.13157	0.0319	L	0.43152	1.355	0.52501	D	0.999954	B	0.06786	0.001	B	0.08055	0.003	T	0.02190	-1.1198	10	0.45353	T	0.12	-8.2252	19.8338	0.96646	0.0:1.0:0.0:0.0	.	898	Q6BDS2	URFB1_HUMAN	L	898	ENSP00000192788:S898L;ENSP00000400628:S898L	ENSP00000192788:S898L	S	+	2	0	UHRF1BP1	34934804	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.638000	0.67861	2.692000	0.91855	0.591000	0.81541	TCA	UHRF1BP1	-	NULL		0.537	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34826826	+1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	T
UHRF2	115426	genome.wustl.edu	37	9	6421009	6421009	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:6421009C>G	ENST00000276893.5	+	2	419	c.251C>G	c.(250-252)tCt>tGt	p.S84C	RP11-307L3.4_ENST00000411561.1_RNA|UHRF2_ENST00000381373.3_Missense_Mutation_p.S84C	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	84					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S84C(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CCTGGCACATCTACACAGATT	0.433																																																	1	Substitution - Missense(1)	cervix(1)											139.0	128.0	132.0					9																	6421009		2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.251C>G	9.37:g.6421009C>G	ENSP00000276893:p.Ser84Cys		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup	p.S84C	ENST00000276893.5	37	c.251	CCDS6469.1	9	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691316	0.88735	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	T;T	0.24538	1.85;2.67	5.55	5.55	0.83447	.	0.916559	0.09488	N	0.795398	T	0.46600	0.1401	L	0.58101	1.795	0.48395	D	0.999646	D	0.62365	0.991	P	0.54759	0.76	T	0.39623	-0.9605	10	0.66056	D	0.02	-15.5867	19.5161	0.95165	0.0:1.0:0.0:0.0	.	84	Q96PU4	UHRF2_HUMAN	C	84	ENSP00000276893:S84C;ENSP00000370778:S84C	ENSP00000276893:S84C	S	+	2	0	UHRF2	6411009	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.345000	0.59360	2.605000	0.88082	0.467000	0.42956	TCT	UHRF2	-	NULL		0.433	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF2	HGNC	protein_coding	OTTHUMT00000051665.3	C	NM_152306		6421009	+1	no_errors	ENST00000276893	ensembl	human	known	70_37	missense	SNP	1.000	G
ULBP2	80328	genome.wustl.edu	37	6	150266620	150266620	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:150266620G>C	ENST00000367351.3	+	2	334	c.261G>C	c.(259-261)tgG>tgC	p.W87C		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	87	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)	p.W87C(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CAACGGCCTGGAAAGCACAGA	0.483																																																	1	Substitution - Missense(1)	cervix(1)											217.0	229.0	225.0					6																	150266620		2203	4298	6501	SO:0001583	missense	80328			AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.261G>C	6.37:g.150266620G>C	ENSP00000356320:p.Trp87Cys		Q5VUN4	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.W87C	ENST00000367351.3	37	c.261	CCDS5222.1	6	.	.	.	.	.	.	.	.	.	.	-	10.99	1.506557	0.26949	.	.	ENSG00000131015	ENST00000367351	T	0.02498	4.27	2.27	0.0546	0.14311	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.05227	0.0139	M	0.77486	2.375	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.18304	-1.0341	9	0.87932	D	0	.	6.2972	0.21093	0.0:0.0:0.4699:0.5301	.	87;87	B4DSS7;Q9BZM5	.;N2DL2_HUMAN	C	87	ENSP00000356320:W87C	ENSP00000356320:W87C	W	+	3	0	ULBP2	150308313	0.061000	0.20836	0.001000	0.08648	0.224000	0.24922	0.959000	0.29240	-0.140000	0.11394	0.184000	0.17185	TGG	ULBP2	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.483	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP2	HGNC	protein_coding	OTTHUMT00000042669.1	G			150266620	+1	no_errors	ENST00000367351	ensembl	human	known	70_37	missense	SNP	0.002	C
UNC79	57578	genome.wustl.edu	37	14	94038402	94038402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:94038402C>T	ENST00000393151.2	+	15	1918	c.1918C>T	c.(1918-1920)Cag>Tag	p.Q640*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.Q640*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.Q463*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.Q640*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	640					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)		p.Q640*(1)|p.Q463*(1)		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						CCCAGATAATCAGTTAAAAGA	0.393																																																	2	Substitution - Nonsense(2)	cervix(2)											54.0	55.0	55.0					14																	94038402		2203	4300	6503	SO:0001587	stop_gained	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.1918C>T	14.37:g.94038402C>T	ENSP00000376858:p.Gln640*		B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q640*	ENST00000393151.2	37	c.1918		14	.	.	.	.	.	.	.	.	.	.	C	39	7.542971	0.98348	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.73	5.73	0.89815	.	0.069140	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.1726	19.8899	0.96926	0.0:1.0:0.0:0.0	.	.	.	.	X	463;640;640;640;640	.	ENSP00000256339:Q463X	Q	+	1	0	KIAA1409	93108155	1.000000	0.71417	0.954000	0.39281	0.935000	0.57460	7.500000	0.81588	2.711000	0.92665	0.650000	0.86243	CAG	UNC79	-	NULL		0.393	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	C	XM_028395		94038402	+1	no_errors	ENST00000553484	ensembl	human	known	70_37	nonsense	SNP	1.000	T
UNK	85451	genome.wustl.edu	37	17	73813417	73813417	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:73813417G>A	ENST00000589666.1	+	9	1225	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	UNK_ENST00000293218.3_Missense_Mutation_p.R448K|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	372							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R448K(1)|p.R372K(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			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)			CTCCTCTGTAGAAACAGCAGC	0.657																																																	2	Substitution - Missense(2)	cervix(2)											53.0	59.0	57.0					17																	73813417		1982	4134	6116	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1115G>A	17.37:g.73813417G>A	ENSP00000464893:p.Arg372Lys			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R448K	ENST00000589666.1	37	c.1343	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135328	0.56828	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.81	4.81	0.61882	.	0.272863	0.36932	N	0.002336	T	0.42381	0.1200	L	0.36672	1.1	0.46260	D	0.998957	B	0.33904	0.431	B	0.28784	0.094	T	0.39313	-0.9620	9	0.05959	T	0.93	-21.6943	16.2383	0.82393	0.0:0.0:1.0:0.0	.	372	Q9C0B0	UNK_HUMAN	K	448	.	ENSP00000293218:R448K	R	+	2	0	UNK	71325012	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.796000	0.62496	2.488000	0.83962	0.563000	0.77884	AGA	UNK	-	NULL		0.657	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	G	NM_001080419		73813417	+1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	1.000	A
UNK	85451	genome.wustl.edu	37	17	73818677	73818677	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:73818677G>C	ENST00000589666.1	+	14	2067	c.1957G>C	c.(1957-1959)Gag>Cag	p.E653Q	UNK_ENST00000293218.3_Missense_Mutation_p.E729Q|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	653							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E729Q(1)|p.E653Q(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			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)			ACTTCGGCAAGAGCTGGATGA	0.642																																																	2	Substitution - Missense(2)	cervix(2)											48.0	55.0	52.0					17																	73818677		2020	4171	6191	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1957G>C	17.37:g.73818677G>C	ENSP00000464893:p.Glu653Gln			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E729Q	ENST00000589666.1	37	c.2185	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974747	0.74360	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	L	0.39020	1.185	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.63888	-0.6535	9	0.31617	T	0.26	-18.7504	17.9634	0.89092	0.0:0.0:1.0:0.0	.	653	Q9C0B0	UNK_HUMAN	Q	729	.	ENSP00000293218:E729Q	E	+	1	0	UNK	71330272	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.263000	0.95617	2.470000	0.83445	0.591000	0.81541	GAG	UNK	-	NULL		0.642	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	G	NM_001080419		73818677	+1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	1.000	C
UNK	85451	genome.wustl.edu	37	17	73820444	73820444	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:73820444G>C	ENST00000589666.1	+	16	2489	c.2379G>C	c.(2377-2379)gaG>gaC	p.E793D	UNK_ENST00000293218.3_Missense_Mutation_p.E869D	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	793							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E793D(1)|p.E869D(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			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)			TCTGCGCTGAGGGCAGCGAGT	0.647																																																	2	Substitution - Missense(2)	cervix(2)											23.0	24.0	24.0					17																	73820444		2088	4198	6286	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.2379G>C	17.37:g.73820444G>C	ENSP00000464893:p.Glu793Asp			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E869D	ENST00000589666.1	37	c.2607	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	7.980	0.751081	0.15778	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.91	3.95	0.45737	Zinc finger, RING-type (1);	0.325332	0.30392	N	0.009728	T	0.46776	0.1410	L	0.55481	1.735	0.34530	D	0.709069	B	0.22276	0.067	B	0.19391	0.025	T	0.50676	-0.8800	9	0.15066	T	0.55	-18.3346	8.2224	0.31549	0.0785:0.0:0.766:0.1555	.	793	Q9C0B0	UNK_HUMAN	D	869	.	ENSP00000293218:E869D	E	+	3	2	UNK	71332039	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	2.184000	0.42575	1.308000	0.44962	0.563000	0.77884	GAG	UNK	-	NULL		0.647	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	G	NM_001080419		73820444	+1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	0.989	C
USH2A	7399	genome.wustl.edu	37	1	216256809	216256809	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:216256809C>G	ENST00000307340.3	-	26	5673	c.5287G>C	c.(5287-5289)Gat>Cat	p.D1763H	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.D1763H|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1763	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D1763H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAAGAAAATCAGGTCCATCT	0.284										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	cervix(1)											86.0	90.0	89.0					1																	216256809		2201	4299	6500	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5287G>C	1.37:g.216256809C>G	ENSP00000305941:p.Asp1763His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D1763H	ENST00000307340.3	37	c.5287	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144747	0.77888	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.82167	-1.58;-1.58	4.52	4.52	0.55395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.46442	D	0.000283	D	0.92156	0.7513	M	0.87381	2.88	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.93599	0.6928	10	0.66056	D	0.02	.	17.6112	0.88054	0.0:1.0:0.0:0.0	.	1763	O75445	USH2A_HUMAN	H	1763	ENSP00000305941:D1763H;ENSP00000355910:D1763H	ENSP00000305941:D1763H	D	-	1	0	USH2A	214323432	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.694000	0.74587	2.233000	0.73108	0.655000	0.94253	GAT	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G		0.284	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216256809	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	G
USP11	8237	genome.wustl.edu	37	X	47106541	47106541	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:47106541C>G	ENST00000218348.3	+	18	2470	c.2470C>G	c.(2470-2472)Ctc>Gtc	p.L824V	USP11_ENST00000377107.2_Missense_Mutation_p.L781V	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	824	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.L824V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GCCGGAGATTCTCATCATCCA	0.567																																																	1	Substitution - Missense(1)	cervix(1)											85.0	64.0	71.0					X																	47106541		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2470C>G	X.37:g.47106541C>G	ENSP00000218348:p.Leu824Val		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.L824V	ENST00000218348.3	37	c.2470	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	c	19.06	3.754448	0.69648	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.70516	-0.49;-0.49	5.5	3.74	0.42951	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.148190	0.45361	N	0.000363	D	0.82912	0.5140	M	0.80183	2.485	0.43061	D	0.994686	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.996	T	0.83349	-0.0004	10	0.87932	D	0	-21.5941	10.8301	0.46654	0.0:0.8583:0.0:0.1417	.	550;824	B3KP28;P51784	.;UBP11_HUMAN	V	781;824	ENSP00000366311:L781V;ENSP00000218348:L824V	ENSP00000218348:L824V	L	+	1	0	USP11	46991485	0.980000	0.34600	0.937000	0.37676	0.878000	0.50629	2.575000	0.46025	0.516000	0.28340	0.431000	0.28591	CTC	USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		C	NM_004651		47106541	+1	no_errors	ENST00000218348	ensembl	human	known	70_37	missense	SNP	1.000	G
USP21	27005	genome.wustl.edu	37	1	161133352	161133352	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:161133352G>A	ENST00000289865.8	+	7	1278	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	PPOX_ENST00000432542.2_5'Flank|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368002.3_Missense_Mutation_p.D353N|PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368001.1_Missense_Mutation_p.D353N	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	353	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D353N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TAGTGATGATGACCGAGCCAA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											151.0	123.0	133.0					1																	161133352		2203	4300	6503	SO:0001583	missense	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1057G>A	1.37:g.161133352G>A	ENSP00000289865:p.Asp353Asn		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.D353N	ENST00000289865.8	37	c.1057	CCDS30920.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236365	0.79800	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.02787	4.16;4.16;4.16	5.43	5.43	0.79202	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.563291	0.17770	N	0.162602	T	0.01905	0.0060	L	0.29908	0.895	0.49915	D	0.999831	B	0.23128	0.08	B	0.28709	0.093	T	0.53774	-0.8391	10	0.62326	D	0.03	.	18.0069	0.89212	0.0:0.0:1.0:0.0	.	353	Q9UK80	UBP21_HUMAN	N	353	ENSP00000356981:D353N;ENSP00000289865:D353N;ENSP00000356980:D353N	ENSP00000289865:D353N	D	+	1	0	USP21	159399976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.788000	0.62439	2.527000	0.85204	0.561000	0.74099	GAC	USP21	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.517	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	G			161133352	+1	no_errors	ENST00000289865	ensembl	human	known	70_37	missense	SNP	1.000	A
USP36	57602	genome.wustl.edu	37	17	76794610	76794610	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:76794610C>G	ENST00000542802.3	-	20	3707	c.3264G>C	c.(3262-3264)aaG>aaC	p.K1088N	USP36_ENST00000449938.2_Missense_Mutation_p.K693N|USP36_ENST00000312010.6_Missense_Mutation_p.K1088N			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1086					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.E1088D(1)|p.K1088N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCTTCTCTCTCTTAAATTTTT	0.488																																																	2	Substitution - Missense(2)	cervix(2)											142.0	148.0	146.0					17																	76794610		2203	4300	6503	SO:0001583	missense	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.3264G>C	17.37:g.76794610C>G	ENSP00000441214:p.Lys1088Asn		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.K1088N	ENST00000542802.3	37	c.3264	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	c	11.29	1.595012	0.28445	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.22743	2.95;1.94;2.95	4.79	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.72894	2.215	0.43693	D	0.996146	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.26815	-1.0092	10	0.72032	D	0.01	-19.3691	8.6604	0.34088	0.0:0.8193:0.0:0.1807	.	1088;693	Q9P275-2;E9PEW0	.;.	N	1088;693;1088	ENSP00000310590:K1088N;ENSP00000401119:K693N;ENSP00000441214:K1088N	ENSP00000310590:K1088N	K	-	3	2	USP36	74306205	1.000000	0.71417	0.983000	0.44433	0.174000	0.22865	1.166000	0.31834	1.010000	0.39314	0.450000	0.29827	AAG	USP36	-	NULL		0.488	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	C	NM_025090		76794610	-1	no_errors	ENST00000312010	ensembl	human	known	70_37	missense	SNP	0.995	G
USP4	7375	genome.wustl.edu	37	3	49349008	49349008	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49349008G>C	ENST00000265560.4	-	7	821	c.775C>G	c.(775-777)Ctc>Gtc	p.L259V	USP4_ENST00000351842.4_Intron|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	259					negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L259V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTTGCAATGAGAGAGGCAGAC	0.507																																																	1	Substitution - Missense(1)	cervix(1)											134.0	125.0	128.0					3																	49349008		2203	4300	6503	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.775C>G	3.37:g.49349008G>C	ENSP00000265560:p.Leu259Val		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.L259V	ENST00000265560.4	37	c.775	CCDS2793.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.211|8.211	0.800383|0.800383	0.16397|0.16397	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000265560|ENST00000431357	T|T	0.19105|0.25250	2.17|1.81	5.39|5.39	4.52|4.52	0.55395|0.55395	.|.	0.552916|.	0.19648|.	N|.	0.109295|.	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.10177|0.10177	-1.0641|-1.0641	10|7	0.11485|0.72032	T|D	0.65|0.01	-3.7361|-3.7361	5.3812|5.3812	0.16192|0.16192	0.1668:0.0:0.6712:0.162|0.1668:0.0:0.6712:0.162	.|.	259|.	Q13107|.	UBP4_HUMAN|.	V|C	259|15	ENSP00000265560:L259V|ENSP00000399079:S15C	ENSP00000265560:L259V|ENSP00000399079:S15C	L|S	-|-	1|2	0|0	USP4|USP4	49324012|49324012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	2.465000|2.465000	0.45075|0.45075	1.272000|1.272000	0.44329|0.44329	0.462000|0.462000	0.41574|0.41574	CTC|TCT	USP4	-	NULL		0.507	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	G	NM_199443		49349008	-1	no_errors	ENST00000265560	ensembl	human	known	70_37	missense	SNP	1.000	C
UTP14C	9724	genome.wustl.edu	37	13	52604768	52604768	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:52604768G>C	ENST00000521776.2	+	2	2561	c.1828G>C	c.(1828-1830)Gag>Cag	p.E610Q		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	610					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.E610Q(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTTCTTGAAAGAGAAGAGGGA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											82.0	89.0	87.0					13																	52604768		2203	4297	6500	SO:0001583	missense	9724			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1828G>C	13.37:g.52604768G>C	ENSP00000428619:p.Glu610Gln		Q5FWG3|Q92555	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.E610Q	ENST00000521776.2	37	c.1828	CCDS31978.1	13	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306602	0.60305	.	.	ENSG00000253797	ENST00000521776	T	0.36699	1.24	2.9	2.9	0.33743	.	0.148326	0.64402	D	0.000012	T	0.55800	0.1943	M	0.85630	2.765	0.46823	D	0.999217	P	0.51240	0.943	P	0.57548	0.823	T	0.62821	-0.6773	9	.	.	.	-29.3733	11.5533	0.50733	0.0:0.0:1.0:0.0	.	610	Q5TAP6	UT14C_HUMAN	Q	610	ENSP00000428619:E610Q	.	E	+	1	0	UTP14C	51502769	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	5.998000	0.70653	1.631000	0.50456	0.455000	0.32223	GAG	UTP14C	-	pfam_SSU_processome_Utp14		0.517	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	G	NM_021645		52604768	+1	no_errors	ENST00000521776	ensembl	human	known	70_37	missense	SNP	1.000	C
UVRAG	7405	genome.wustl.edu	37	11	75591011	75591011	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:75591011G>A	ENST00000356136.3	+	4	600	c.359G>A	c.(358-360)gGa>gAa	p.G120E	UVRAG_ENST00000528420.1_Missense_Mutation_p.G19E	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	120	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.G120E(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATATGGGGTGGAAAGGAGAAC	0.428																																																	1	Substitution - Missense(1)	cervix(1)											279.0	263.0	268.0					11																	75591011		2200	4293	6493	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.359G>A	11.37:g.75591011G>A	ENSP00000348455:p.Gly120Glu		B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.G120E	ENST00000356136.3	37	c.359	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375907	0.82682	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000528264	T	0.45668	0.89	5.65	5.65	0.86999	C2 calcium-dependent membrane targeting (1);	0.099000	0.64402	D	0.000001	T	0.51941	0.1704	L	0.50333	1.59	0.80722	D	1	D	0.55172	0.97	P	0.56612	0.802	T	0.32640	-0.9899	10	0.12766	T	0.61	-16.7307	18.3143	0.90213	0.0:0.0:1.0:0.0	.	120	Q9P2Y5	UVRAG_HUMAN	E	120;19;19	ENSP00000348455:G120E	ENSP00000348455:G120E	G	+	2	0	UVRAG	75268659	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.410000	0.97335	2.678000	0.91216	0.655000	0.94253	GGA	UVRAG	-	smart_C2_Ca-dep		0.428	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	G	NM_003369		75591011	+1	no_errors	ENST00000356136	ensembl	human	known	70_37	missense	SNP	1.000	A
UVRAG	7405	genome.wustl.edu	37	11	75591018	75591018	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:75591018delG	ENST00000356136.3	+	4	607	c.366delG	c.(364-366)gagfs	p.E122fs	UVRAG_ENST00000528420.1_Frame_Shift_Del_p.E21fs	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	122	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTGGAAAGGAGAACATCTACC	0.433																																																	0													280.0	265.0	270.0					11																	75591018		2200	4293	6493	SO:0001589	frameshift_variant	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.366delG	11.37:g.75591018delG	ENSP00000348455:p.Glu122fs		B3KTC1|O00392	Frame_Shift_Del	DEL	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.N123fs	ENST00000356136.3	37	c.366	CCDS8241.1	11																																																																																			UVRAG	-	smart_C2_Ca-dep		0.433	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	G	NM_003369		75591018	+1	no_errors	ENST00000356136	ensembl	human	known	70_37	frame_shift_del	DEL	0.998	-
UXS1	80146	genome.wustl.edu	37	2	106782514	106782514	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:106782514C>T	ENST00000409501.3	-	2	177	c.120G>A	c.(118-120)atG>atA	p.M40I	UXS1_ENST00000283148.7_Missense_Mutation_p.M40I|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000540130.1_5'UTR			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	40					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.M40I(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ACAATTACCTCATATTAACGA	0.338																																																	2	Substitution - Missense(2)	cervix(2)											92.0	85.0	87.0					2																	106782514		1828	4075	5903	SO:0001583	missense	80146			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.120G>A	2.37:g.106782514C>T	ENSP00000387019:p.Met40Ile		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase	p.M40I	ENST00000409501.3	37	c.120	CCDS46378.1	2	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937270	0.34189	.	.	ENSG00000115652	ENST00000283148;ENST00000409501	D;D	0.95885	-3.81;-3.84	5.06	4.16	0.48862	.	0.045885	0.85682	D	0.000000	D	0.89983	0.6873	L	0.27053	0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	D	0.85414	0.1139	10	0.33141	T	0.24	-4.46	9.9709	0.41754	0.0:0.9004:0.0:0.0995	.	40;40	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	I	40	ENSP00000283148:M40I;ENSP00000387019:M40I	ENSP00000283148:M40I	M	-	3	0	UXS1	106148946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.114000	0.41911	2.489000	0.83994	0.563000	0.77884	ATG	UXS1	-	pfam_UXS1_N		0.338	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	UXS1	HGNC	protein_coding	OTTHUMT00000329778.1	C	NM_025076.3		106782514	-1	no_errors	ENST00000283148	ensembl	human	known	70_37	missense	SNP	1.000	T
VARS2	57176	genome.wustl.edu	37	6	30889913	30889913	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:30889913C>G	ENST00000321897.5	+	19	2459	c.1827C>G	c.(1825-1827)ttC>ttG	p.F609L	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.F609L|VARS2_ENST00000541562.1_Missense_Mutation_p.F639L|VARS2_ENST00000542001.1_Missense_Mutation_p.F469L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	609					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.F609L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTGCTCGTTTCTACCCCCTGT	0.632																																																	1	Substitution - Missense(1)	cervix(1)											83.0	96.0	91.0					6																	30889913		1508	2708	4216	SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1827C>G	6.37:g.30889913C>G	ENSP00000316092:p.Phe609Leu		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.F639L	ENST00000321897.5	37	c.1917	CCDS34387.1	6	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151501	0.57151	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.14	3.37	0.38596	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	M	0.67569	2.06	0.41080	D	0.985519	B;B;P	0.49358	0.216;0.18;0.923	B;B;P	0.54706	0.376;0.259;0.759	T	0.02339	-1.1174	10	0.87932	D	0	-27.3064	6.8316	0.23913	0.0:0.723:0.0:0.277	.	607;639;609	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	L	609;609;469;639	ENSP00000316092:F609L;ENSP00000394802:F609L;ENSP00000438200:F469L;ENSP00000441000:F639L	ENSP00000316092:F609L	F	+	3	2	VARS2	30997892	1.000000	0.71417	0.998000	0.56505	0.676000	0.39594	2.133000	0.42093	0.759000	0.33084	0.561000	0.74099	TTC	VARS2	-	pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase		0.632	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	HGNC	protein_coding	OTTHUMT00000076566.2	C	NM_020442		30889913	+1	no_errors	ENST00000541562	ensembl	human	known	70_37	missense	SNP	1.000	G
VCAN	1462	genome.wustl.edu	37	5	82832806	82832806	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:82832806G>A	ENST00000265077.3	+	8	4568				VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|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)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TAAGTATTGTGAAAACTCTGT	0.348																																																	0													43.0	45.0	44.0					5																	82832806		2203	4299	6502	SO:0001627	intron_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4004-20G>A	5.37:g.82832806G>A			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	RNA	SNP	-	NULL	ENST00000265077.3	37	NULL	CCDS4060.1	5																																																																																			VCAN	-	-		0.348	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82832806	+1	no_errors	ENST00000513016	ensembl	human	known	70_37	rna	SNP	1.000	A
VCPIP1	80124	genome.wustl.edu	37	8	67577872	67577872	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:67577872C>T	ENST00000310421.4	-	1	1580	c.1322G>A	c.(1321-1323)aGa>aAa	p.R441K	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	441					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.R441K(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCCAGTCCTTCTGTAGAAATA	0.428																																					NSCLC(179;265 2915 6144 43644)												1	Substitution - Missense(1)	cervix(1)											126.0	125.0	125.0					8																	67577872		2203	4300	6503	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1322G>A	8.37:g.67577872C>T	ENSP00000309031:p.Arg441Lys		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.R441K	ENST00000310421.4	37	c.1322	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180878	0.38511	.	.	ENSG00000175073	ENST00000310421	T	0.36520	1.25	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	N	0.25380	0.74	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.26744	-1.0094	10	0.30854	T	0.27	-11.6484	19.6397	0.95753	0.0:1.0:0.0:0.0	.	441	Q96JH7	VCIP1_HUMAN	K	441	ENSP00000309031:R441K	ENSP00000309031:R441K	R	-	2	0	VCPIP1	67740426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	AGA	VCPIP1	-	NULL		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	C			67577872	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	missense	SNP	1.000	T
VCPIP1	80124	genome.wustl.edu	37	8	67577894	67577894	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:67577894C>T	ENST00000310421.4	-	1	1558	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	434					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.D434N(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGATGGACATCAGCAACCAAA	0.418																																					NSCLC(179;265 2915 6144 43644)												1	Substitution - Missense(1)	cervix(1)											128.0	127.0	127.0					8																	67577894		2203	4300	6503	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1300G>A	8.37:g.67577894C>T	ENSP00000309031:p.Asp434Asn		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.D434N	ENST00000310421.4	37	c.1300	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937793	0.73557	.	.	ENSG00000175073	ENST00000310421	T	0.39406	1.08	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.65376	-0.6183	10	0.72032	D	0.01	-15.7497	19.6397	0.95753	0.0:1.0:0.0:0.0	.	434	Q96JH7	VCIP1_HUMAN	N	434	ENSP00000309031:D434N	ENSP00000309031:D434N	D	-	1	0	VCPIP1	67740448	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	GAT	VCPIP1	-	NULL		0.418	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	C			67577894	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	missense	SNP	1.000	T
VDAC2	7417	genome.wustl.edu	37	10	76979068	76979068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:76979068C>T	ENST00000332211.6	+	6	523	c.310C>T	c.(310-312)Caa>Taa	p.Q104*	VDAC2_ENST00000535553.1_Nonsense_Mutation_p.Q65*|VDAC2_ENST00000543351.1_Nonsense_Mutation_p.Q104*|VDAC2_ENST00000313132.4_Nonsense_Mutation_p.Q119*|VDAC2_ENST00000472137.1_3'UTR	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	104					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)	p.Q104*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	ATAGATTTGTCAAGGTTTGAA	0.244																																																	1	Substitution - Nonsense(1)	cervix(1)											45.0	46.0	46.0					10																	76979068		2203	4299	6502	SO:0001587	stop_gained	7417			BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"""Voltage-dependent anion channels"""	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.310C>T	10.37:g.76979068C>T	ENSP00000361686:p.Gln104*		Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Nonsense_Mutation	SNP	pfam_Porin_Euk,prints_Porin_Euk	p.Q119*	ENST00000332211.6	37	c.355	CCDS7348.1	10	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287587	0.80803	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000535553;ENST00000313132;ENST00000447677	.	.	.	5.37	4.41	0.53225	.	0.049559	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	11.4651	0.50235	0.3583:0.6417:0.0:0.0	.	.	.	.	X	104;104;104;104;65;119;104	.	ENSP00000298468:Q104X	Q	+	1	0	VDAC2	76649074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.730000	0.74780	2.513000	0.84729	0.655000	0.94253	CAA	VDAC2	-	pfam_Porin_Euk		0.244	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC2	HGNC	protein_coding	OTTHUMT00000048792.1	C	NM_003375		76979068	+1	no_errors	ENST00000313132	ensembl	human	known	70_37	nonsense	SNP	1.000	T
VEGFC	7424	genome.wustl.edu	37	4	177713327	177713327	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:177713327C>T	ENST00000280193.2	-	1	554	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	47					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.E47K(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACCGTGGCCTCGCCCGCGTCG	0.721																																																	1	Substitution - Missense(1)	cervix(1)											18.0	22.0	21.0					4																	177713327		1871	4086	5957	SO:0001583	missense	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.139G>A	4.37:g.177713327C>T	ENSP00000280193:p.Glu47Lys		B2R9Q8	Missense_Mutation	SNP	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.E47K	ENST00000280193.2	37	c.139	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778191	0.70107	.	.	ENSG00000150630	ENST00000280193	.	.	.	4.3	4.3	0.51218	.	0.089559	0.43110	D	0.000613	T	0.41465	0.1160	L	0.57536	1.79	0.38599	D	0.950621	D	0.53745	0.962	B	0.36719	0.231	T	0.48198	-0.9056	9	0.09843	T	0.71	-12.749	13.4717	0.61285	0.0:1.0:0.0:0.0	.	47	P49767	VEGFC_HUMAN	K	47	.	ENSP00000280193:E47K	E	-	1	0	VEGFC	177950321	0.959000	0.32827	0.997000	0.53966	0.347000	0.29111	2.139000	0.42149	1.938000	0.56188	0.305000	0.20034	GAG	VEGFC	-	NULL		0.721	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	C	NM_005429		177713327	-1	no_errors	ENST00000280193	ensembl	human	known	70_37	missense	SNP	0.963	T
VEPH1	79674	genome.wustl.edu	37	3	157081331	157081331	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:157081331C>G	ENST00000362010.2	-	9	1864	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.E519D|VEPH1_ENST00000543418.1_Missense_Mutation_p.E519D|VEPH1_ENST00000392833.2_Missense_Mutation_p.E519D	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	519						plasma membrane (GO:0005886)		p.E519D(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGACAAATTCTCTGAGTCTA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											113.0	122.0	119.0					3																	157081331		2203	4300	6503	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1557G>C	3.37:g.157081331C>G	ENSP00000354919:p.Glu519Asp		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E519D	ENST00000362010.2	37	c.1557	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	C	2.696	-0.272157	0.05716	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.12039	2.8;2.72;2.8;2.72	5.5	2.71	0.32032	.	0.402874	0.28151	N	0.016401	T	0.13200	0.0320	N	0.24115	0.695	0.09310	N	1	D;P	0.61697	0.99;0.47	P;B	0.55999	0.789;0.139	T	0.14615	-1.0466	10	0.21014	T	0.42	-1.0009	5.7538	0.18162	0.0:0.4933:0.2421:0.2647	.	519;519	Q14D04-2;Q14D04	.;MELT_HUMAN	D	519	ENSP00000376578:E519D;ENSP00000354919:E519D;ENSP00000446258:E519D;ENSP00000376577:E519D	ENSP00000354919:E519D	E	-	3	2	VEPH1	158564025	0.019000	0.18553	0.203000	0.23512	0.551000	0.35334	-0.256000	0.08757	0.271000	0.22005	-0.150000	0.13652	GAG	VEPH1	-	NULL		0.398	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	C	NM_024621		157081331	-1	no_errors	ENST00000362010	ensembl	human	known	70_37	missense	SNP	0.026	G
VGF	7425	genome.wustl.edu	37	7	100806313	100806313	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:100806313C>G	ENST00000249330.2	-	2	2051	c.1812G>C	c.(1810-1812)gaG>gaC	p.E604D	VGF_ENST00000445482.2_Missense_Mutation_p.E604D	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	604					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)		p.E604D(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CGATGTAATTCTCCAGCTCCT	0.791																																																	1	Substitution - Missense(1)	cervix(1)											8.0	10.0	9.0					7																	100806313		2144	4182	6326	SO:0001583	missense	7425			Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1812G>C	7.37:g.100806313C>G	ENSP00000249330:p.Glu604Asp		Q9UDW8	Missense_Mutation	SNP	NULL	p.E604D	ENST00000249330.2	37	c.1812	CCDS5712.1	7	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110844	0.56398	.	.	ENSG00000128564	ENST00000249330;ENST00000445482	.	.	.	3.86	2.98	0.34508	.	.	.	.	.	T	0.34861	0.0912	N	0.19112	0.55	0.34255	D	0.67927	B	0.21606	0.058	B	0.19391	0.025	T	0.40496	-0.9560	8	0.56958	D	0.05	-4.7716	7.0012	0.24811	0.0:0.8738:0.0:0.1262	.	604	O15240	VGF_HUMAN	D	604	.	ENSP00000249330:E604D	E	-	3	2	VGF	100593033	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.175000	0.42491	0.842000	0.35045	0.484000	0.47621	GAG	VGF	-	NULL		0.791	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGF	HGNC	protein_coding	OTTHUMT00000347462.1	C	NM_003378		100806313	-1	no_errors	ENST00000249330	ensembl	human	known	70_37	missense	SNP	1.000	G
VILL	50853	genome.wustl.edu	37	3	38043241	38043241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:38043241G>T	ENST00000283713.6	+	13	1635	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*	VILL_ENST00000465644.1_Nonsense_Mutation_p.E175*|VILL_ENST00000383759.2_Nonsense_Mutation_p.E457*			O15195	VILL_HUMAN	villin-like	457					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.E457*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAGCAACGCTGAGGAACTAGA	0.612																																																	1	Substitution - Nonsense(1)	cervix(1)											137.0	125.0	129.0					3																	38043241		2203	4300	6503	SO:0001587	stop_gained	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1369G>T	3.37:g.38043241G>T	ENSP00000283713:p.Glu457*		A8MZP1|Q9BT80|Q9BWH7	Nonsense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.E457*	ENST00000283713.6	37	c.1369	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068778	0.76301	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	.	.	.	4.81	2.98	0.34508	.	0.379401	0.28946	N	0.013630	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-26.069	11.0577	0.47929	0.2189:0.0:0.7811:0.0	.	.	.	.	X	457;457;443;175	.	ENSP00000283713:E457X	E	+	1	0	VILL	38018245	0.991000	0.36638	0.867000	0.34043	0.076000	0.17211	3.098000	0.50259	1.184000	0.42957	-0.537000	0.04273	GAG	VILL	-	pfam_Gelsolin_dom,smart_Gelsolin		0.612	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	G	NM_015873		38043241	+1	no_errors	ENST00000283713	ensembl	human	known	70_37	nonsense	SNP	0.953	T
VIT	5212	genome.wustl.edu	37	2	36986229	36986229	+	Intron	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:36986229C>G	ENST00000389975.3	+	6	789				VIT_ENST00000379241.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000457137.2_Missense_Mutation_p.S176C|VIT_ENST00000401530.1_Intron	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCTTCTGAGTCCATGAACACG	0.468																																																	0													90.0	88.0	89.0					2																	36986229		2203	4300	6503	SO:0001627	intron_variant	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.487+40C>G	2.37:g.36986229C>G			A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.S176C	ENST00000389975.3	37	c.527	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	C	4.858	0.159495	0.09236	.	.	ENSG00000205221	ENST00000457137	D	0.91295	-2.82	4.97	-1.16	0.09678	.	.	.	.	.	D	0.82277	0.5002	.	.	.	0.09310	N	1	P	0.34546	0.456	B	0.37346	0.247	T	0.70490	-0.4857	7	.	.	.	.	3.2096	0.06677	0.3062:0.1851:0.0:0.5087	.	176	Q6UXI7-3	.	C	176	ENSP00000393561:S176C	.	S	+	2	0	VIT	36839733	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.296000	0.08287	0.013000	0.14918	-0.474000	0.04947	TCC	VIT	-	NULL		0.468	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		C			36986229	+1	no_errors	ENST00000457137	ensembl	human	known	70_37	missense	SNP	0.000	G
VMP1	81671	genome.wustl.edu	37	17	57889099	57889099	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:57889099C>T	ENST00000262291.4	+	9	1174	c.864C>T	c.(862-864)ttC>ttT	p.F288F	VMP1_ENST00000537567.1_Silent_p.F154F|VMP1_ENST00000545362.1_Silent_p.F232F|VMP1_ENST00000536180.1_Silent_p.F191F|VMP1_ENST00000539763.1_Silent_p.F96F	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	288					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)		p.F288F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TTTGGACCTTCTTTGGTGCAA	0.373																																																	1	Substitution - coding silent(1)	cervix(1)											180.0	175.0	177.0					17																	57889099		2203	4300	6503	SO:0001819	synonymous_variant	81671				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.864C>T	17.37:g.57889099C>T			B4DVV9|Q9H0P4|Q9P089	Silent	SNP	NULL	p.F288	ENST00000262291.4	37	c.864	CCDS11619.1	17																																																																																			VMP1	-	NULL		0.373	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	C	NM_030938		57889099	+1	no_errors	ENST00000262291	ensembl	human	known	70_37	silent	SNP	1.000	T
VPS11	55823	genome.wustl.edu	37	11	118940948	118940948	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:118940948C>T	ENST00000300793.6	+	5	516	c.474C>T	c.(472-474)ttC>ttT	p.F158F	VPS11_ENST00000527798.1_3'UTR|RP11-110I1.13_ENST00000607709.1_RNA	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	159					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.F158F(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TTACAGGTTTCACAGATGGCA	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											41.0	41.0	41.0					11																	118940948		1868	4103	5971	SO:0001819	synonymous_variant	55823			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.474C>T	11.37:g.118940948C>T			Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-		0.453	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		C	NM_021729		118940948	+1	no_errors	ENST00000300793	ensembl	human	known	70_37	rna	SNP	1.000	T
VPS13A	23230	genome.wustl.edu	37	9	79952270	79952270	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:79952270G>C	ENST00000360280.3	+	47	6455	c.6195G>C	c.(6193-6195)aaG>aaC	p.K2065N	VPS13A_ENST00000376636.3_Missense_Mutation_p.K2026N|VPS13A_ENST00000376634.4_Missense_Mutation_p.K2065N|VPS13A_ENST00000357409.5_Missense_Mutation_p.K2065N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2065					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.K2065N(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTCTAAAGAAGAAATGTAGAT	0.303																																																	3	Substitution - Missense(3)	cervix(3)											46.0	49.0	48.0					9																	79952270		2203	4298	6501	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6195G>C	9.37:g.79952270G>C	ENSP00000353422:p.Lys2065Asn		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.K2065N	ENST00000360280.3	37	c.6195	CCDS6655.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.59|12.59	1.984368|1.984368	0.35036|0.35036	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409|ENST00000419472	T;T;T;T|.	0.47177|.	1.02;0.85;0.93;1.02|.	5.3|5.3	4.41|4.41	0.53225|0.53225	.|.	0.178012|.	0.50627|.	D|.	0.000114|.	T|T	0.65080|0.65080	0.2657|0.2657	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;B;P;P;P|.	0.44734|.	0.842;0.288;0.756;0.604;0.604|.	B;B;B;B;B|.	0.42112|.	0.359;0.189;0.209;0.376;0.376|.	T|T	0.64097|0.64097	-0.6487|-0.6487	10|5	0.13470|.	T|.	0.59|.	.|.	11.1109|11.1109	0.48232|0.48232	0.1487:0.0:0.8513:0.0|0.1487:0.0:0.8513:0.0	.|.	317;2026;2065;2065;2065|.	B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4|.	.;.;VP13A_HUMAN;.;.|.	N|T	2065;2026;2065;2065|318	ENSP00000365821:K2065N;ENSP00000365823:K2026N;ENSP00000353422:K2065N;ENSP00000349985:K2065N|.	ENSP00000349985:K2065N|.	K|R	+|+	3|2	2|0	VPS13A|VPS13A	79142090|79142090	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.390000|0.390000	0.30446|0.30446	4.667000|4.667000	0.61561|0.61561	1.262000|1.262000	0.44165|0.44165	0.650000|0.650000	0.86243|0.86243	AAG|AGA	VPS13A	-	NULL		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79952270	+1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS51	738	genome.wustl.edu	37	11	64864556	64864556	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:64864556G>C	ENST00000279281.3	+	2	407	c.315G>C	c.(313-315)caG>caC	p.Q105H		NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	105					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q105H(1)									GCGACATGCAGACCCTGGTCT	0.572																																																	1	Substitution - Missense(1)	cervix(1)											54.0	43.0	47.0					11																	64864556		2201	4296	6497	SO:0001583	missense	738			AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.315G>C	11.37:g.64864556G>C	ENSP00000279281:p.Gln105His		Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom	p.Q105H	ENST00000279281.3	37	c.315	CCDS8093.1	11	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580032	0.86645	.	.	ENSG00000149823	ENST00000528588;ENST00000530773;ENST00000279281;ENST00000529180;ENST00000526578;ENST00000534557	.	.	.	5.19	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83013	-0.0171	9	0.59425	D	0.04	-12.214	11.2786	0.49181	0.0882:0.0:0.9118:0.0	.	105	Q9UID3	FFR_HUMAN	H	135;105;105;105;19;19	.	ENSP00000279281:Q105H	Q	+	3	2	C11orf2	64621132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.215000	0.42862	1.425000	0.47237	0.655000	0.94253	CAG	VPS51	-	pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10		0.572	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS51	HGNC	protein_coding	OTTHUMT00000385217.1	G	NM_013265		64864556	+1	no_errors	ENST00000279281	ensembl	human	known	70_37	missense	SNP	1.000	C
VRK3	51231	genome.wustl.edu	37	19	50482462	50482462	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:50482462G>A	ENST00000599538.1	-	14	1978	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	VRK3_ENST00000594948.1_Silent_p.L438L|VRK3_ENST00000601341.1_Silent_p.L388L|VRK3_ENST00000443401.2_Silent_p.L207L|VRK3_ENST00000316763.3_Silent_p.L438L|VRK3_ENST00000377011.2_Silent_p.L388L			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	438	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.L438L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CCTCATACGTGAGGGCCATCA	0.587																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)												1	Substitution - coding silent(1)	cervix(1)											133.0	106.0	115.0					19																	50482462		2203	4300	6503	SO:0001819	synonymous_variant	51231			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.1314C>T	19.37:g.50482462G>A			A6NEG5|A8KA53|Q502Y2|Q9P2V8	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,pfscan_Prot_kinase_cat_dom	p.L438	ENST00000599538.1	37	c.1314	CCDS12791.1	19																																																																																			VRK3	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.587	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	HGNC	protein_coding	OTTHUMT00000464815.1	G	NM_016440		50482462	-1	no_errors	ENST00000316763	ensembl	human	known	70_37	silent	SNP	0.064	A
VSIG2	23584	genome.wustl.edu	37	11	124621373	124621373	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:124621373G>C	ENST00000326621.5	-	2	265	c.165C>G	c.(163-165)ttC>ttG	p.F55L	VSIG2_ENST00000403470.1_Missense_Mutation_p.F55L	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	55	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.F55L(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACTCCAGGGCGAAGCTGTCTC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											108.0	80.0	90.0					11																	124621373		2201	4299	6500	SO:0001583	missense	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.165C>G	11.37:g.124621373G>C	ENSP00000318684:p.Phe55Leu		O95791|Q9NX42	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F55L	ENST00000326621.5	37	c.165	CCDS8452.1	11	.	.	.	.	.	.	.	.	.	.	G	9.966	1.224212	0.22457	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.64991	-0.13;-0.13	4.62	-3.47	0.04753	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.255887	0.30676	N	0.009104	T	0.52629	0.1746	N	0.11673	0.155	0.30189	N	0.799709	D	0.76494	0.999	D	0.80764	0.994	T	0.58025	-0.7709	10	0.17369	T	0.5	.	11.3034	0.49320	0.6277:0.0:0.3723:0.0	.	55	Q96IQ7	VSIG2_HUMAN	L	55	ENSP00000318684:F55L;ENSP00000385013:F55L	ENSP00000318684:F55L	F	-	3	2	VSIG2	124126583	0.993000	0.37304	0.974000	0.42286	0.933000	0.57130	-0.043000	0.12043	-0.591000	0.05859	-0.137000	0.14449	TTC	VSIG2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.627	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG2	HGNC	protein_coding	OTTHUMT00000317785.1	G	NM_014312		124621373	-1	no_errors	ENST00000326621	ensembl	human	known	70_37	missense	SNP	0.904	C
VWA2	340706	genome.wustl.edu	37	10	116048875	116048875	+	Silent	SNP	C	C	T	rs143465186		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr10:116048875C>T	ENST00000392982.3	+	12	1999	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	VWA2_ENST00000603594.1_Silent_p.F583F			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	583	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.F583F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGACTGCCTTCGGGCTGGACA	0.647																																																	1	Substitution - coding silent(1)	cervix(1)						C		2,4404	4.2+/-10.8	0,2,2201	56.0	49.0	51.0		1749	-2.0	1.0	10	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	VWA2	NM_198496.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		583/726	116048875	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1749C>T	10.37:g.116048875C>T			A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.F583	ENST00000392982.3	37	c.1749		10																																																																																			VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.647	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	C	NM_198496		116048875	+1	no_errors	ENST00000392982	ensembl	human	known	70_37	silent	SNP	0.929	T
WDR19	57728	genome.wustl.edu	37	4	39217800	39217800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:39217800C>T	ENST00000399820.3	+	12	1373	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	WDR19_ENST00000288634.7_Nonsense_Mutation_p.R247*|WDR19_ENST00000506503.1_Nonsense_Mutation_p.R407*	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	407					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.R407*(1)		large_intestine(1)	1						AATGAATAATCGAGCTTGGTT	0.368																																																	1	Substitution - Nonsense(1)	cervix(1)											99.0	91.0	93.0					4																	39217800		1837	4088	5925	SO:0001587	stop_gained	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1219C>T	4.37:g.39217800C>T	ENSP00000382717:p.Arg407*		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R407*	ENST00000399820.3	37	c.1219	CCDS47042.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.238169	0.98719	.	.	ENSG00000157796	ENST00000399820;ENST00000288634;ENST00000506503;ENST00000399836	.	.	.	5.46	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7472	13.4078	0.60924	0.2818:0.7182:0.0:0.0	.	.	.	.	X	407;247;407;406	.	ENSP00000288634:R247X	R	+	1	2	WDR19	38894195	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.052000	0.49893	2.557000	0.86248	0.655000	0.94253	CGA	WDR19	-	superfamily_WD40_repeat_dom		0.368	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	C			39217800	+1	no_errors	ENST00000399820	ensembl	human	known	70_37	nonsense	SNP	1.000	T
WDR17	116966	genome.wustl.edu	37	4	177052785	177052785	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:177052785C>G	ENST00000280190.4	+	8	1222	c.1066C>G	c.(1066-1068)Caa>Gaa	p.Q356E	WDR17_ENST00000393643.2_Missense_Mutation_p.Q332E|WDR17_ENST00000507824.2_Missense_Mutation_p.Q339E|WDR17_ENST00000508596.1_Missense_Mutation_p.Q332E			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	356								p.Q356E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AACACAGAATCAAGCATTTTC	0.388																																																	1	Substitution - Missense(1)	cervix(1)											280.0	271.0	274.0					4																	177052785		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1066C>G	4.37:g.177052785C>G	ENSP00000280190:p.Gln356Glu		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q356E	ENST00000280190.4	37	c.1066	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.232|3.232	-0.157274|-0.157274	0.06544|0.06544	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.56275	.|0.5;0.52;0.47	5.45|5.45	5.45|5.45	0.79879|0.79879	.|WD40 repeat-like-containing domain (1);	.|0.125201	.|0.56097	.|D	.|0.000032	T|T	0.28863|0.28863	0.0716|0.0716	N|N	0.08118|0.08118	0|0	0.49483|0.49483	D|D	0.999793|0.999793	.|P;P	.|0.39665	.|0.682;0.682	.|B;B	.|0.30316	.|0.114;0.114	T|T	0.27434|0.27434	-1.0074|-1.0074	5|10	.|0.07482	.|T	.|0.82	-17.5444|-17.5444	19.6593|19.6593	0.95859|0.95859	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|332;356	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	M|E	104|332;332;356;339	.|ENSP00000422763:Q332E;ENSP00000377258:Q332E;ENSP00000280190:Q356E	.|ENSP00000280190:Q356E	I|Q	+|+	3|1	3|0	WDR17|WDR17	177289779|177289779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.264000|0.264000	0.26372|0.26372	5.524000|5.524000	0.67105|0.67105	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	ATC|CAA	WDR17	-	superfamily_WD40_repeat_dom		0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	C			177052785	+1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	1.000	G
WDR3	10885	genome.wustl.edu	37	1	118482165	118482165	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:118482165G>A	ENST00000349139.5	+	6	692	c.645G>A	c.(643-645)ctG>ctA	p.L215L	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	215						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L215L(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ACAGTGAACTGAGGGTATGGG	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											116.0	120.0	119.0					1																	118482165		2203	4300	6503	SO:0001819	synonymous_variant	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.645G>A	1.37:g.118482165G>A				Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L215	ENST00000349139.5	37	c.645	CCDS898.1	1																																																																																			WDR3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.378	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	G	NM_006784		118482165	+1	no_errors	ENST00000349139	ensembl	human	known	70_37	silent	SNP	1.000	A
WDR3	10885	genome.wustl.edu	37	1	118491033	118491033	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:118491033G>A	ENST00000349139.5	+	13	1475	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	476						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G476G(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CCCAGACAGGGAAGCTGCAGC	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											97.0	88.0	91.0					1																	118491033		2203	4300	6503	SO:0001819	synonymous_variant	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1428G>A	1.37:g.118491033G>A				Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G476	ENST00000349139.5	37	c.1428	CCDS898.1	1																																																																																			WDR3	-	smart_WD40_repeat,pfscan_WD40_repeat_dom		0.453	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	G	NM_006784		118491033	+1	no_errors	ENST00000349139	ensembl	human	known	70_37	silent	SNP	1.000	A
WDR6	11180	genome.wustl.edu	37	3	49049138	49049138	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:49049138G>A	ENST00000608424.1	+	2	210	c.171G>A	c.(169-171)caG>caA	p.Q57Q	WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Silent_p.Q6Q|WDR6_ENST00000395474.3_Silent_p.Q87Q			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	57					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.Q57Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGCGAGTGCAGAACCTGCTTG	0.547																																																	1	Substitution - coding silent(1)	cervix(1)											244.0	239.0	241.0					3																	49049138		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.171G>A	3.37:g.49049138G>A			B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q87	ENST00000608424.1	37	c.261		3																																																																																			WDR6	-	NULL		0.547	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049138	+1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	1.000	A
WDR60	55112	genome.wustl.edu	37	7	158723168	158723168	+	Silent	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:158723168C>G	ENST00000407559.3	+	21	2666	c.2508C>G	c.(2506-2508)gtC>gtG	p.V836V		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	836					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V836V(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAGGGAGGGTCAAGCTGGTAC	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											174.0	164.0	167.0					7																	158723168		1964	4155	6119	SO:0001819	synonymous_variant	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2508C>G	7.37:g.158723168C>G			Q9NW58	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.V836	ENST00000407559.3	37	c.2508	CCDS47757.1	7																																																																																			WDR60	-	superfamily_WD40_repeat_dom		0.413	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	C	NM_018051		158723168	+1	no_errors	ENST00000407559	ensembl	human	known	70_37	silent	SNP	0.991	G
WDR62	284403	genome.wustl.edu	37	19	36595563	36595563	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:36595563G>C	ENST00000270301.7	+	31	4282	c.4282G>C	c.(4282-4284)Gac>Cac	p.D1428H	WDR62_ENST00000401500.2_Missense_Mutation_p.D1433H			O43379	WDR62_HUMAN	WD repeat domain 62	1428					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.D1428H(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAAGCCCTCGACCTTTACCG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											53.0	52.0	52.0					19																	36595563		2203	4300	6503	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.4282G>C	19.37:g.36595563G>C	ENSP00000270301:p.Asp1428His		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1433H	ENST00000270301.7	37	c.4297	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496200	0.44352	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.68479	-0.24;-0.33	4.73	2.59	0.31030	.	0.267293	0.28052	N	0.016796	T	0.68604	0.3019	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.95	T	0.64601	-0.6369	10	0.39692	T	0.17	-14.2404	7.2436	0.26109	0.2016:0.0:0.7984:0.0	.	1433;1428	O43379-4;O43379	.;WDR62_HUMAN	H	1433;1428	ENSP00000384792:D1433H;ENSP00000270301:D1428H	ENSP00000270301:D1428H	D	+	1	0	WDR62	41287403	0.985000	0.35326	0.970000	0.41538	0.675000	0.39556	0.929000	0.28844	0.714000	0.32081	0.650000	0.86243	GAC	WDR62	-	NULL		0.632	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	G	NM_015671		36595563	+1	no_errors	ENST00000401500	ensembl	human	known	70_37	missense	SNP	0.962	C
TBC1D31	93594	genome.wustl.edu	37	8	124140567	124140567	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:124140567G>A	ENST00000287380.1	+	14	2021	c.1931G>A	c.(1930-1932)aGa>aAa	p.R644K	TBC1D31_ENST00000378080.2_Missense_Mutation_p.R539K|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R644K|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R539K|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R521K|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R644K	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	644						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.R644K(1)									GTTGTGATTAGACAAGTTTAT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											136.0	125.0	129.0					8																	124140567		2203	4300	6503	SO:0001583	missense	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1931G>A	8.37:g.124140567G>A	ENSP00000287380:p.Arg644Lys		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.R644K	ENST00000287380.1	37	c.1931	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841162	0.32513	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.73	2.95	0.34219	Rab-GAP/TBC domain (1);	0.222170	0.42420	N	0.000708	T	0.11537	0.0281	N	0.21373	0.66	0.27364	N	0.955886	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.31833	-0.9929	10	0.09590	T	0.72	-6.8278	9.5097	0.39069	0.3347:0.0:0.6653:0.0	.	644;644;644	B7ZL19;Q96DN5-2;Q96DN5	.;.;WDR67_HUMAN	K	644;644;644;539;521;539	ENSP00000287380:R644K;ENSP00000308358:R644K;ENSP00000312701:R644K;ENSP00000429334:R539K;ENSP00000430628:R521K;ENSP00000367320:R539K	ENSP00000287380:R644K	R	+	2	0	WDR67	124209748	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	1.620000	0.36976	0.773000	0.33404	0.585000	0.79938	AGA	WDR67	-	superfamily_Rab-GTPase-TBC_dom		0.363	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR67	HGNC	protein_coding	OTTHUMT00000381721.1	G	NM_145647		124140567	+1	no_errors	ENST00000287380	ensembl	human	known	70_37	missense	SNP	0.712	A
TBC1D31	93594	genome.wustl.edu	37	8	124146362	124146362	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:124146362G>C	ENST00000287380.1	+	17	2505	c.2415G>C	c.(2413-2415)atG>atC	p.M805I	TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000518805.1_Missense_Mutation_p.M359I|TBC1D31_ENST00000309336.3_Missense_Mutation_p.M805I|TBC1D31_ENST00000522420.1_Missense_Mutation_p.M700I|TBC1D31_ENST00000521676.1_Missense_Mutation_p.M682I|TBC1D31_ENST00000327098.5_Intron	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	805						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.M805I(1)									AGGTATATATGAGAGATCGAG	0.328																																																	1	Substitution - Missense(1)	cervix(1)											90.0	95.0	93.0					8																	124146362		2203	4300	6503	SO:0001583	missense	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2415G>C	8.37:g.124146362G>C	ENSP00000287380:p.Met805Ile		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.M805I	ENST00000287380.1	37	c.2415	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833156	0.32421	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000522420;ENST00000521676;ENST00000518805	D;T;D;D;T	0.85013	-1.93;-0.1;-1.93;-1.93;1.03	5.49	5.49	0.81192	.	0.272886	0.37809	N	0.001927	T	0.77890	0.4198	L	0.29908	0.895	0.80722	D	1	B;P;B	0.40083	0.253;0.702;0.31	B;B;B	0.34418	0.115;0.182;0.085	T	0.80374	-0.1409	10	0.52906	T	0.07	-23.1178	17.1659	0.86816	0.0:0.0:1.0:0.0	.	805;700;805	Q96DN5-2;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	I	805;805;700;682;359	ENSP00000287380:M805I;ENSP00000308358:M805I;ENSP00000429334:M700I;ENSP00000430628:M682I;ENSP00000429494:M359I	ENSP00000287380:M805I	M	+	3	0	WDR67	124215543	1.000000	0.71417	0.999000	0.59377	0.507000	0.33981	4.829000	0.62737	2.583000	0.87209	0.655000	0.94253	ATG	WDR67	-	NULL		0.328	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR67	HGNC	protein_coding	OTTHUMT00000381721.1	G	NM_145647		124146362	+1	no_errors	ENST00000287380	ensembl	human	known	70_37	missense	SNP	1.000	C
WDR73	84942	genome.wustl.edu	37	15	85191128	85191128	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:85191128C>G	ENST00000434634.2	-	5	405	c.345G>C	c.(343-345)gaG>gaC	p.E115D	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	115								p.E115D(1)		cervix(1)|large_intestine(1)|lung(1)	3						CACCACTGTCCTCTGCAACCT	0.483																																																	1	Substitution - Missense(1)	cervix(1)											104.0	107.0	106.0					15																	85191128		1964	4164	6128	SO:0001583	missense	84942			AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.345G>C	15.37:g.85191128C>G	ENSP00000387982:p.Glu115Asp		Q96JZ1|Q9P0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E115D	ENST00000434634.2	37	c.345	CCDS45339.1	15	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385120	0.25031	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.49720	0.77	4.96	2.03	0.26663	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.372366	0.30584	N	0.009302	T	0.57592	0.2064	L	0.59436	1.845	0.42957	D	0.994396	D;D	0.71674	0.974;0.998	P;D	0.77557	0.808;0.99	T	0.55360	-0.8153	10	0.46703	T	0.11	-2.3472	6.7243	0.23348	0.0:0.7113:0.0:0.2887	.	115;115	B4DI20;Q6P4I2	.;WDR73_HUMAN	D	123;115	ENSP00000387982:E115D	ENSP00000381539:E123D	E	-	3	2	WDR73	82992132	0.999000	0.42202	1.000000	0.80357	0.818000	0.46254	0.623000	0.24447	0.773000	0.33404	0.563000	0.77884	GAG	WDR73	-	superfamily_WD40_repeat_dom		0.483	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR73	HGNC	protein_coding	OTTHUMT00000418195.1	C	NM_032856		85191128	-1	no_errors	ENST00000434634	ensembl	human	known	70_37	missense	SNP	1.000	G
WDR75	84128	genome.wustl.edu	37	2	190328666	190328666	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:190328666G>C	ENST00000314761.4	+	11	1152	c.1092G>C	c.(1090-1092)caG>caC	p.Q364H		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	364						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q364Q(1)|p.Q364H(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ATTCTCTCCAGAGTGATAAAC	0.368																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|prostate(1)											89.0	86.0	87.0					2																	190328666		2203	4299	6502	SO:0001583	missense	84128			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1092G>C	2.37:g.190328666G>C	ENSP00000314193:p.Gln364His		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q364H	ENST00000314761.4	37	c.1092	CCDS2298.1	2	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942260	0.18281	.	.	ENSG00000115368	ENST00000314761	T	0.60920	0.15	5.26	0.0625	0.14345	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.162445	0.56097	D	0.000031	T	0.30355	0.0762	N	0.05554	-0.025	0.40687	D	0.982367	B;B	0.09022	0.002;0.002	B;B	0.12156	0.003;0.007	T	0.02885	-1.1098	10	0.33141	T	0.24	-14.7412	6.7833	0.23659	0.4706:0.0:0.4157:0.1137	.	364;364	A8K330;Q8IWA0	.;WDR75_HUMAN	H	364	ENSP00000314193:Q364H	ENSP00000314193:Q364H	Q	+	3	2	WDR75	190036911	0.782000	0.28689	0.966000	0.40874	0.998000	0.95712	-0.110000	0.10824	0.047000	0.15862	0.650000	0.86243	CAG	WDR75	-	pfscan_WD40_repeat_dom		0.368	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	G	NM_032168		190328666	+1	no_errors	ENST00000314761	ensembl	human	known	70_37	missense	SNP	0.798	C
WFIKKN2	124857	genome.wustl.edu	37	17	48917322	48917322	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:48917322G>C	ENST00000311378.4	+	2	1201	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E132Q	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	225	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E225Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CACCATGGGTGAGACAGTGAG	0.637																																																	1	Substitution - Missense(1)	cervix(1)											86.0	85.0	85.0					17																	48917322		2203	4300	6503	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.673G>C	17.37:g.48917322G>C	ENSP00000311184:p.Glu225Gln		Q6UXZ9	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.E225Q	ENST00000311378.4	37	c.673	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149278	0.78001	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	D;D	0.96334	-3.98;-3.98	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050581	0.85682	D	0.000000	D	0.95204	0.8445	N	0.13352	0.335	0.80722	D	1	D	0.56968	0.978	P	0.57846	0.828	D	0.95210	0.8324	10	0.38643	T	0.18	.	19.2584	0.93957	0.0:0.0:1.0:0.0	.	225	Q8TEU8	WFKN2_HUMAN	Q	132;225	ENSP00000405889:E132Q;ENSP00000311184:E225Q	ENSP00000311184:E225Q	E	+	1	0	WFIKKN2	46272321	1.000000	0.71417	0.955000	0.39395	0.729000	0.41735	9.847000	0.99503	2.533000	0.85409	0.651000	0.88453	GAG	WFIKKN2	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.637	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	G	NM_175575		48917322	+1	no_errors	ENST00000311378	ensembl	human	known	70_37	missense	SNP	1.000	C
WIF1	11197	genome.wustl.edu	37	12	65456282	65456282	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:65456282C>G	ENST00000286574.4	-	7	1179	c.805G>C	c.(805-807)Gag>Cag	p.E269Q		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	269	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.E269Q(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGCTCTCCCTCTAGTCCTGGA	0.448			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)			Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	2	Substitution - Missense(2)	cervix(2)											104.0	91.0	96.0					12																	65456282		2203	4300	6503	SO:0001583	missense	11197			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.805G>C	12.37:g.65456282C>G	ENSP00000286574:p.Glu269Gln		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh	p.E269Q	ENST00000286574.4	37	c.805	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630108	0.67015	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	T;T	0.44083	3.89;0.93	5.28	4.37	0.52481	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.054186	0.64402	N	0.000001	T	0.33118	0.0852	L	0.28400	0.85	0.58432	D	0.999994	B	0.16166	0.016	B	0.22152	0.038	T	0.07908	-1.0748	9	.	.	.	.	16.4853	0.84183	0.0:0.8684:0.1316:0.0	.	269	Q9Y5W5	WIF1_HUMAN	Q	269;32	ENSP00000286574:E269Q;ENSP00000439024:E32Q	.	E	-	1	0	WIF1	63742549	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	3.737000	0.55060	1.515000	0.48885	0.650000	0.86243	GAG	WIF1	-	smart_EG-like_dom		0.448	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	HGNC	protein_coding	OTTHUMT00000401258.2	C			65456282	-1	no_errors	ENST00000286574	ensembl	human	known	70_37	missense	SNP	1.000	G
XAB2	56949	genome.wustl.edu	37	19	7689278	7689278	+	Silent	SNP	G	G	A	rs368906159		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:7689278G>A	ENST00000358368.4	-	7	913	c.876C>T	c.(874-876)ttC>ttT	p.F292F	XAB2_ENST00000534844.1_Silent_p.F289F	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	292					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.F289F(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACACCTGTGTGAAGTCCCGCA	0.642								Direct reversal of damage;Nucleotide excision repair (NER)																																									1	Substitution - coding silent(1)	cervix(1)											143.0	113.0	123.0					19																	7689278		2203	4300	6503	SO:0001819	synonymous_variant	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.876C>T	19.37:g.7689278G>A			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F292	ENST00000358368.4	37	c.876	CCDS32892.1	19																																																																																			XAB2	-	smart_HAT		0.642	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	G	NM_020196		7689278	-1	no_errors	ENST00000358368	ensembl	human	known	70_37	silent	SNP	1.000	A
XAB2	56949	genome.wustl.edu	37	19	7693181	7693181	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:7693181C>T	ENST00000358368.4	-	2	92	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	PET100_ENST00000601406.1_5'Flank|PET100_ENST00000456958.3_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Missense_Mutation_p.E16K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	19					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E16K(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGGTCCTCTTCCTCCTGCCAG	0.582								Direct reversal of damage;Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	cervix(1)											80.0	67.0	71.0					19																	7693181		2203	4300	6503	SO:0001583	missense	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.55G>A	19.37:g.7693181C>T	ENSP00000351137:p.Glu19Lys		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E19K	ENST00000358368.4	37	c.55	CCDS32892.1	19	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732878	0.89482	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.22945	1.93;1.94	4.74	4.74	0.60224	.	0.128391	0.50627	D	0.000104	T	0.42877	0.1222	M	0.87758	2.905	0.49798	D	0.999829	P	0.34662	0.462	B	0.40825	0.341	T	0.48790	-0.9004	10	0.44086	T	0.13	-14.2448	16.514	0.84294	0.0:1.0:0.0:0.0	.	19	Q9HCS7	SYF1_HUMAN	K	19;16	ENSP00000351137:E19K;ENSP00000438225:E16K	ENSP00000351137:E19K	E	-	1	0	XAB2	7599181	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.330000	0.79181	2.196000	0.70406	0.561000	0.74099	GAA	XAB2	-	NULL		0.582	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	C	NM_020196		7693181	-1	no_errors	ENST00000358368	ensembl	human	known	70_37	missense	SNP	1.000	T
XIRP2	129446	genome.wustl.edu	37	2	168108178	168108178	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:168108178G>A	ENST00000409195.1	+	9	10365	c.10276G>A	c.(10276-10278)Gag>Aag	p.E3426K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3204K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3426K|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3251					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)		p.E3426K(1)		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						GGATGCATTTGAGAGTCAAAT	0.453																																																	1	Substitution - Missense(1)	cervix(1)											73.0	72.0	72.0					2																	168108178		1896	4110	6006	SO:0001583	missense	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	ENST00000409195.1:c.10276G>A	2.37:g.168108178G>A	ENSP00000386840:p.Glu3426Lys		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.E3426K	ENST00000409195.1	37	c.10276	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676041	0.47886	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03124	4.05;4.05;4.04	6.16	5.28	0.74379	.	0.336851	0.34435	N	0.003971	T	0.09113	0.0225	L	0.59436	1.845	0.41456	D	0.98801	P;P;P	0.49559	0.877;0.925;0.775	B;P;B	0.47162	0.339;0.54;0.436	T	0.02766	-1.1113	10	0.62326	D	0.03	-8.2528	16.629	0.85011	0.0:0.1302:0.8698:0.0	.	3251;3251;3204	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	3426;3426;3204;840	ENSP00000386840:E3426K;ENSP00000295237:E3426K;ENSP00000387255:E3204K	ENSP00000295237:E3426K	E	+	1	0	XIRP2	167816424	1.000000	0.71417	0.120000	0.21714	0.569000	0.35902	6.195000	0.72088	1.613000	0.50231	-0.172000	0.13284	GAG	XIRP2	-	NULL		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	G	NM_152381		168108178	+1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	0.983	A
TSIX	9383	genome.wustl.edu	37	X	73043756	73043756	+	lincRNA	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:73043756G>A	ENST00000604411.1	+	0	31717				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GAGCCCCACAGAAAGTAATCA	0.368																																																	0													27.0	28.0	28.0					X																	73043756		876	1990	2866			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043756G>A				RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.368	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	G	NR_003255		73043756	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.243	A
XPO6	23214	genome.wustl.edu	37	16	28192332	28192332	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:28192332G>C	ENST00000304658.5	-	2	524	c.24C>G	c.(22-24)ctC>ctG	p.L8L	Y_RNA_ENST00000363268.1_RNA|XPO6_ENST00000565698.1_5'UTR|SNORA25_ENST00000363782.1_RNA	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	8					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.L8L(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CCAATGCCCTGAGAGAGGCTT	0.388																																																	2	Substitution - coding silent(2)	cervix(2)											79.0	68.0	71.0					16																	28192332		1807	4085	5892	SO:0001819	synonymous_variant	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.24C>G	16.37:g.28192332G>C			A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L8	ENST00000304658.5	37	c.24	CCDS42135.1	16																																																																																			XPO6	-	superfamily_ARM-type_fold		0.388	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	G	XM_055195		28192332	-1	no_errors	ENST00000304658	ensembl	human	known	70_37	silent	SNP	1.000	C
YAF2	10138	genome.wustl.edu	37	12	42554402	42554402	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:42554402C>T	ENST00000534854.2	-	4	599	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	YAF2_ENST00000442791.3_Missense_Mutation_p.E202K|YAF2_ENST00000327791.4_Missense_Mutation_p.E154K|YAF2_ENST00000380788.3_Missense_Mutation_p.E169K|YAF2_ENST00000380790.4_Missense_Mutation_p.E136K	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	178					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E178K(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TAATGAGATTCTCCATTCAAT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											89.0	88.0	88.0					12																	42554402		2203	4300	6503	SO:0001583	missense	10138			U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.532G>A	12.37:g.42554402C>T	ENSP00000439256:p.Glu178Lys		A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E202K	ENST00000534854.2	37	c.604	CCDS31775.1	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774246	0.90108	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.71674	0.996;0.997;0.998;0.993	D;D;D;D	0.78314	0.987;0.98;0.991;0.971	T	0.77466	-0.2577	9	0.66056	D	0.02	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	136;169;154;178	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	K	154;202;178;136;169	.	ENSP00000328004:E154K	E	-	1	0	YAF2	40840669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.408000	0.80041	2.699000	0.92147	0.655000	0.94253	GAA	YAF2	-	NULL		0.413	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	HGNC	protein_coding	OTTHUMT00000403781.1	C			42554402	-1	no_errors	ENST00000442791	ensembl	human	known	70_37	missense	SNP	1.000	T
YAF2	10138	genome.wustl.edu	37	12	42554468	42554468	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:42554468C>G	ENST00000534854.2	-	4	533	c.466G>C	c.(466-468)Gat>Cat	p.D156H	YAF2_ENST00000442791.3_Missense_Mutation_p.D180H|YAF2_ENST00000327791.4_Missense_Mutation_p.D132H|YAF2_ENST00000380788.3_Missense_Mutation_p.D147H|YAF2_ENST00000380790.4_Missense_Mutation_p.D114H	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	156					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D156H(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TCTGTGTTATCAGAGCTAGAG	0.418																																																	1	Substitution - Missense(1)	cervix(1)											94.0	89.0	91.0					12																	42554468		2203	4300	6503	SO:0001583	missense	10138			U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.466G>C	12.37:g.42554468C>G	ENSP00000439256:p.Asp156His		A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.D180H	ENST00000534854.2	37	c.538	CCDS31775.1	12	.	.	.	.	.	.	.	.	.	.	C	19.65	3.868053	0.72065	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.71	5.71	0.89125	.	0.087859	0.85682	D	0.000000	T	0.72558	0.3475	L	0.44542	1.39	0.80722	D	1	P;D;D;P	0.65815	0.693;0.995;0.994;0.567	P;P;P;B	0.60473	0.478;0.819;0.875;0.224	T	0.73525	-0.3955	9	0.66056	D	0.02	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	114;147;132;156	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	H	132;180;156;114;147	.	ENSP00000328004:D132H	D	-	1	0	YAF2	40840735	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.390000	0.79816	2.699000	0.92147	0.655000	0.94253	GAT	YAF2	-	NULL		0.418	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	HGNC	protein_coding	OTTHUMT00000403781.1	C			42554468	-1	no_errors	ENST00000442791	ensembl	human	known	70_37	missense	SNP	1.000	G
YBX2	51087	genome.wustl.edu	37	17	7196799	7196799	+	Silent	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:7196799G>T	ENST00000007699.5	-	2	393	c.330C>A	c.(328-330)atC>atA	p.I110I	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	110	CSD.|Required for cytoplasmic retention. {ECO:0000250}.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)	p.I110I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GATACCTGTTGATGAATCCGT	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											115.0	88.0	97.0					17																	7196799		2203	4300	6503	SO:0001819	synonymous_variant	51087			AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.330C>A	17.37:g.7196799G>T			D3DTP1|Q8N4P0	Silent	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.I110	ENST00000007699.5	37	c.330	CCDS11098.1	17																																																																																			YBX2	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd		0.597	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX2	HGNC	protein_coding	OTTHUMT00000440172.2	G	NM_015982		7196799	-1	no_errors	ENST00000007699	ensembl	human	known	70_37	silent	SNP	1.000	T
YIPF6	286451	genome.wustl.edu	37	X	67751726	67751726	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:67751726C>T	ENST00000462683.1	+	7	1340	c.596C>T	c.(595-597)tCc>tTc	p.S199F	YIPF6_ENST00000374622.2_Missense_Mutation_p.S156F	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	199					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)		p.S199F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						tgtttAGCCTCCACAGCTTTC	0.383																																																	1	Substitution - Missense(1)	cervix(1)											126.0	91.0	103.0					X																	67751726		2166	4245	6411	SO:0001583	missense	286451			BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.596C>T	X.37:g.67751726C>T	ENSP00000417573:p.Ser199Phe		B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	pfam_Yip1	p.S199F	ENST00000462683.1	37	c.596	CCDS14389.1	X	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231304	0.58777	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.42131	0.98;0.98;0.98	5.8	5.8	0.92144	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	M	0.91872	3.25	0.80722	D	1	D;D	0.71674	0.981;0.998	D;D	0.74674	0.915;0.984	T	0.78828	-0.2050	10	0.87932	D	0	-5.9625	16.2314	0.82344	0.0:1.0:0.0:0.0	.	156;199	G5E997;Q96EC8	.;YIPF6_HUMAN	F	199;156;156	ENSP00000417573:S199F;ENSP00000401799:S156F;ENSP00000363751:S156F	ENSP00000363751:S156F	S	+	2	0	YIPF6	67668451	1.000000	0.71417	0.364000	0.25888	0.203000	0.24098	7.454000	0.80714	2.436000	0.82500	0.600000	0.82982	TCC	YIPF6	-	pfam_Yip1		0.383	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF6	HGNC	protein_coding	OTTHUMT00000057016.1	C	NM_173834		67751726	+1	no_errors	ENST00000462683	ensembl	human	known	70_37	missense	SNP	1.000	T
YLPM1	56252	genome.wustl.edu	37	14	75264371	75264371	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:75264371G>A	ENST00000325680.7	+	5	2495	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	YLPM1_ENST00000238571.3_Missense_Mutation_p.D596N|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	596					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.D596N(2)|p.D791N(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AAATCGCCCCGATGGGCCAAG	0.498																																																	3	Substitution - Missense(3)	cervix(2)|large_intestine(1)											30.0	32.0	31.0					14																	75264371		1866	4097	5963	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2371G>A	14.37:g.75264371G>A	ENSP00000324463:p.Asp791Asn		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.D791N	ENST00000325680.7	37	c.2371	CCDS45135.1	14	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709986	0.68730	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.39	5.39	0.77823	.	0.264525	0.32593	N	0.005897	T	0.66127	0.2758	L	0.44542	1.39	0.43203	D	0.995054	D	0.69078	0.997	P	0.60789	0.879	T	0.60337	-0.7283	9	0.27082	T	0.32	-11.3669	17.7052	0.88306	0.0:0.0:1.0:0.0	.	791	P49750-4	.	N	791;596;504	.	ENSP00000238571:D596N	D	+	1	0	YLPM1	74334124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.338000	0.72963	2.680000	0.91292	0.643000	0.83706	GAT	YLPM1	-	NULL		0.498	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404451.1	G	NM_019589		75264371	+1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	A
ZAK	51776	genome.wustl.edu	37	2	174086208	174086208	+	Intron	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:174086208G>A	ENST00000375213.3	+	11	1065				MLTK_ENST00000539448.1_Missense_Mutation_p.D440N|MLTK_ENST00000431503.2_Missense_Mutation_p.D339N|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000338983.3_Missense_Mutation_p.D440N|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							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)	p.D440N(1)									tgacgatgatgatgatgatga	0.393																																																	1	Substitution - Missense(1)	cervix(1)											50.0	48.0	49.0					2																	174086208		2203	4300	6503	SO:0001627	intron_variant	51776																														ENST00000375213.3:c.987+4230G>A	2.37:g.174086208G>A			B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D440N	ENST00000375213.3	37	c.1318	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772281	0.49680	.	.	ENSG00000091436	ENST00000539448;ENST00000338983;ENST00000431503	T;T;D	0.81579	-1.09;-1.09;-1.51	5.34	4.25	0.50352	.	.	.	.	.	T	0.65719	0.2718	N	0.14661	0.345	0.21445	N	0.999683	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.56341	-0.7995	9	0.87932	D	0	.	8.143	0.31095	0.1891:0.0:0.8109:0.0	.	440;440	A8K710;D4Q8H0	.;.	N	440;440;339	ENSP00000439414:D440N;ENSP00000340257:D440N;ENSP00000399787:D339N	ENSP00000340257:D440N	D	+	1	0	AC013461.1	173794454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.826000	0.48104	2.526000	0.85167	0.650000	0.86243	GAT	MLTK	-	NULL		0.393	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_genename	protein_coding	OTTHUMT00000255401.1	G			174086208	+1	no_errors	ENST00000338983	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBTB39	9880	genome.wustl.edu	37	12	57397132	57397132	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:57397132C>G	ENST00000300101.2	-	2	1655	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E524Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGTGCTTCTCTAGAAGATGC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											49.0	41.0	44.0					12																	57397132		2203	4300	6503	SO:0001583	missense	9880			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1570G>C	12.37:g.57397132C>G	ENSP00000300101:p.Glu524Gln		A7MD38|Q9UD98	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E524Q	ENST00000300101.2	37	c.1570	CCDS31839.1	12	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287875	0.59976	.	.	ENSG00000166860	ENST00000300101	T	0.52057	0.68	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053328	0.64402	D	0.000001	T	0.45337	0.1337	N	0.10707	0.03	0.42803	D	0.993934	D	0.63880	0.993	D	0.62955	0.909	T	0.38714	-0.9648	10	0.14252	T	0.57	-21.8562	17.3221	0.87238	0.0:1.0:0.0:0.0	.	524	O15060	ZBT39_HUMAN	Q	524	ENSP00000300101:E524Q	ENSP00000300101:E524Q	E	-	1	0	ZBTB39	55683399	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	4.692000	0.61746	2.694000	0.91930	0.650000	0.86243	GAG	ZBTB39	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.552	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB39	HGNC	protein_coding	OTTHUMT00000411214.1	C	NM_014830		57397132	-1	no_errors	ENST00000300101	ensembl	human	known	70_37	missense	SNP	1.000	G
ZBTB4	57659	genome.wustl.edu	37	17	7369795	7369795	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:7369795G>C	ENST00000311403.4	-	3	665	c.326C>G	c.(325-327)tCt>tGt	p.S109C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S109C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	109	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.S109C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGGagaggaagaggaagagga	0.587																																																	2	Substitution - Missense(2)	cervix(2)											20.0	21.0	21.0					17																	7369795		2202	4298	6500	SO:0001583	missense	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.326C>G	17.37:g.7369795G>C	ENSP00000307858:p.Ser109Cys		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S109C	ENST00000311403.4	37	c.326	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	G	8.102	0.776899	0.16120	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.39229	1.09;1.09	4.41	3.43	0.39272	BTB/POZ-like (2);BTB/POZ fold (1);	0.485959	0.18741	N	0.132449	T	0.20941	0.0504	N	0.08118	0	0.24449	N	0.994491	B	0.11235	0.004	B	0.08055	0.003	T	0.12116	-1.0560	10	0.56958	D	0.05	-11.9589	5.9042	0.18984	0.1056:0.196:0.6984:0.0	.	109	Q9P1Z0	ZBTB4_HUMAN	C	109	ENSP00000307858:S109C;ENSP00000369973:S109C	ENSP00000307858:S109C	S	-	2	0	ZBTB4	7310519	0.986000	0.35501	0.961000	0.40146	0.388000	0.30384	4.073000	0.57570	1.060000	0.40578	0.462000	0.41574	TCT	ZBTB4	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.587	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	G	NM_020899		7369795	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	missense	SNP	0.995	C
ZC3H13	23091	genome.wustl.edu	37	13	46594685	46594685	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr13:46594685G>A	ENST00000242848.4	-	5	695	c.347C>T	c.(346-348)tCt>tTt	p.S116F	ZC3H13_ENST00000282007.3_Missense_Mutation_p.S116F			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	116							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S116F(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCCTCTTGAAGATTCTTTCTA	0.279																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												1	Substitution - Missense(1)	cervix(1)											112.0	106.0	108.0					13																	46594685		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.347C>T	13.37:g.46594685G>A	ENSP00000242848:p.Ser116Phe		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S116F	ENST00000242848.4	37	c.347		13	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452769	0.43531	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.35973	2.19;1.28	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000019	T	0.51618	0.1685	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.55792	-0.8085	10	0.87932	D	0	.	18.438	0.90653	0.0:0.0:1.0:0.0	.	116;116	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	F	116	ENSP00000242848:S116F;ENSP00000282007:S116F	ENSP00000242848:S116F	S	-	2	0	ZC3H13	45492686	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.171000	0.94802	2.362000	0.80069	0.467000	0.42956	TCT	ZC3H13	-	NULL		0.279	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	G	NM_015070		46594685	-1	no_errors	ENST00000242848	ensembl	human	known	70_37	missense	SNP	1.000	A
ZC3HAV1	56829	genome.wustl.edu	37	7	138758630	138758630	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:138758630G>A	ENST00000242351.5	-	7	2160	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S737F|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S615F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	615	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.S615F(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCATGTGCCAGATTCATTCTT	0.468																																																	1	Substitution - Missense(1)	cervix(1)											134.0	123.0	126.0					7																	138758630		2203	4300	6503	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1844C>T	7.37:g.138758630G>A	ENSP00000242351:p.Ser615Phe		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S615F	ENST00000242351.5	37	c.1844	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	G	8.539	0.872782	0.17322	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.32753	1.44;1.44;1.44	5.03	-4.52	0.03472	WWE domain (1);	1.504460	0.03795	N	0.263424	T	0.13457	0.0326	N	0.16602	0.42	0.09310	N	1	B;B	0.21688	0.059;0.037	B;B	0.25884	0.064;0.012	T	0.15009	-1.0452	10	0.09590	T	0.72	.	0.1943	0.00138	0.2693:0.2283:0.1565:0.346	.	615;615	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	F	615;737;615;375	ENSP00000242351:S615F;ENSP00000418385:S737F;ENSP00000419855:S615F	ENSP00000242351:S615F	S	-	2	0	ZC3HAV1	138409170	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-0.691000	0.05133	-0.473000	0.06871	-0.169000	0.13324	TCT	ZC3HAV1	-	pfscan_WWE-dom		0.468	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	G	NM_020119		138758630	-1	no_errors	ENST00000242351	ensembl	human	known	70_37	missense	SNP	0.000	A
ZC3HAV1	56829	genome.wustl.edu	37	7	138764300	138764300	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr7:138764300G>C	ENST00000242351.5	-	4	1703	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.Q463E|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.Q463E	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	463					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.Q463E(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCAGCATCCTGAATCCTAGGT	0.453																																																	1	Substitution - Missense(1)	cervix(1)											115.0	111.0	112.0					7																	138764300		2203	4300	6503	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1387C>G	7.37:g.138764300G>C	ENSP00000242351:p.Gln463Glu		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Q463E	ENST00000242351.5	37	c.1387	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515821	0.27123	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.17691	3.26;3.22;2.26	4.58	2.59	0.31030	.	0.918642	0.09143	N	0.842676	T	0.10035	0.0246	L	0.27053	0.805	0.09310	N	1	B;P	0.43750	0.053;0.816	B;B	0.34093	0.032;0.175	T	0.15464	-1.0436	10	0.21014	T	0.42	.	9.3504	0.38133	0.0:0.0:0.6131:0.3869	.	463;463	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	E	463;463;463;223	ENSP00000242351:Q463E;ENSP00000418385:Q463E;ENSP00000419855:Q463E	ENSP00000242351:Q463E	Q	-	1	0	ZC3HAV1	138414840	0.003000	0.15002	0.002000	0.10522	0.011000	0.07611	1.088000	0.30877	1.242000	0.43836	0.655000	0.94253	CAG	ZC3HAV1	-	NULL		0.453	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	G	NM_020119		138764300	-1	no_errors	ENST00000242351	ensembl	human	known	70_37	missense	SNP	0.001	C
ZCCHC2	54877	genome.wustl.edu	37	18	60237357	60237357	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:60237357C>G	ENST00000269499.5	+	12	2286	c.1868C>G	c.(1867-1869)tCt>tGt	p.S623C	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S302C	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	623						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.S623C(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GACATTGGCTCTGGACATGAC	0.313																																																	1	Substitution - Missense(1)	cervix(1)											64.0	61.0	62.0					18																	60237357		1838	4097	5935	SO:0001583	missense	54877			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.1868C>G	18.37:g.60237357C>G	ENSP00000269499:p.Ser623Cys		B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.S623C	ENST00000269499.5	37	c.1868	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967700	0.74131	.	.	ENSG00000141664	ENST00000269499	T	0.26223	1.75	5.08	5.08	0.68730	.	0.189721	0.39083	N	0.001472	T	0.35828	0.0945	L	0.29908	0.895	0.47819	D	0.999524	D	0.76494	0.999	D	0.64042	0.921	T	0.05616	-1.0874	10	0.72032	D	0.01	-18.2335	13.3448	0.60566	0.0:0.9246:0.0:0.0754	.	623	Q9C0B9	ZCHC2_HUMAN	C	623	ENSP00000269499:S623C	ENSP00000269499:S623C	S	+	2	0	ZCCHC2	58388337	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.287000	0.51732	2.793000	0.96121	0.655000	0.94253	TCT	ZCCHC2	-	NULL		0.313	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	C	NM_017742		60237357	+1	no_errors	ENST00000269499	ensembl	human	known	70_37	missense	SNP	1.000	G
ZCCHC5	203430	genome.wustl.edu	37	X	77913090	77913090	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:77913090C>T	ENST00000321110.1	-	2	1123	c.828G>A	c.(826-828)gtG>gtA	p.V276V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	276							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V276V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CAACAAAGCTCACCAGGGCTG	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											36.0	34.0	35.0					X																	77913090		2203	4300	6503	SO:0001819	synonymous_variant	203430			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.828G>A	X.37:g.77913090C>T			B2RMZ0|Q5JQE9	Silent	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V276	ENST00000321110.1	37	c.828	CCDS14440.1	X																																																																																			ZCCHC5	-	NULL		0.498	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	C	NM_152694		77913090	-1	no_errors	ENST00000321110	ensembl	human	known	70_37	silent	SNP	0.618	T
ZEB2	9839	genome.wustl.edu	37	2	145147260	145147260	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:145147260C>T	ENST00000558170.2	-	10	4587	c.3403G>A	c.(3403-3405)Gag>Aag	p.E1135K	ZEB2_ENST00000409487.3_Missense_Mutation_p.E1135K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1111K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1135K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1135	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E1135K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTCTCGCTCTCGCCATCCCTC	0.587																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	cervix(1)											176.0	147.0	157.0					2																	145147260		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3403G>A	2.37:g.145147260C>T	ENSP00000454157:p.Glu1135Lys		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E1135K	ENST00000558170.2	37	c.3403	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763400	0.69763	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14266	2.54;2.52;2.52	5.51	5.51	0.81932	.	0.262720	0.41712	D	0.000838	T	0.09202	0.0227	N	0.08118	0	0.40004	D	0.975209	B;B;B	0.30482	0.281;0.185;0.185	B;B;B	0.26770	0.073;0.033;0.033	T	0.31696	-0.9934	10	0.37606	T	0.19	-0.7154	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1111;1134;1135	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	K	1111;1135;1135	ENSP00000443792:E1111K;ENSP00000302501:E1135K;ENSP00000386854:E1135K	ENSP00000302501:E1135K	E	-	1	0	ZEB2	144863730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.735000	0.55044	2.746000	0.94184	0.591000	0.81541	GAG	ZEB2	-	NULL		0.587	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	C	NM_014795		145147260	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFC3H1	196441	genome.wustl.edu	37	12	72056802	72056802	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:72056802G>C	ENST00000378743.3	-	1	947	c.589C>G	c.(589-591)Cgg>Ggg	p.R197G	ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.R197G|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.R197G|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	197					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R197G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGCTCTTCCGAGGTGGAGAG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											138.0	153.0	148.0					12																	72056802		2004	4165	6169	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.589C>G	12.37:g.72056802G>C	ENSP00000368017:p.Arg197Gly		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.R197G	ENST00000378743.3	37	c.589	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062868	0.55432	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.35605	1.3	4.29	4.29	0.51040	.	0.488636	0.18359	N	0.143621	T	0.43634	0.1256	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.85130	0.997;0.995;0.972	T	0.49995	-0.8879	10	0.59425	D	0.04	.	15.4779	0.75501	0.0:0.0:1.0:0.0	.	197;197;197	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	G	197	ENSP00000368017:R197G	ENSP00000368017:R197G	R	-	1	2	ZFC3H1	70343069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.419000	0.59835	2.384000	0.81235	0.650000	0.86243	CGG	ZFC3H1	-	NULL		0.582	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	G	NM_144982		72056802	-1	no_errors	ENST00000378743	ensembl	human	known	70_37	missense	SNP	1.000	C
ZFP36L1	677	genome.wustl.edu	37	14	69262694	69262694	+	5'Flank	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:69262694C>G	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000408913.2_Silent_p.S106S|ZFP36L1_ENST00000336440.3_5'Flank	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S106S(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCAGGAAGGCCGAGGCGAGGC	0.766																																																	1	Substitution - coding silent(1)	cervix(1)											9.0	12.0	11.0					14																	69262694		2055	3948	6003	SO:0001631	upstream_gene_variant	677			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262694C>G	Exception_encountered		Q13851	Silent	SNP	NULL	p.S106	ENST00000439696.2	37	c.318	CCDS9791.1	14																																																																																			ZFP36L1	-	NULL		0.766	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	C			69262694	-1	no_errors	ENST00000408913	ensembl	human	known	70_37	silent	SNP	0.000	G
ZFP42	132625	genome.wustl.edu	37	4	188923976	188923976	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:188923976G>A	ENST00000326866.4	+	4	423	c.15G>A	c.(13-15)ctG>ctA	p.L5L	ZFP42_ENST00000509524.1_Silent_p.L5L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	5					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L5L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GCCAGCAACTGAAGAAACGGG	0.542																																																	1	Substitution - coding silent(1)	cervix(1)											67.0	73.0	71.0					4																	188923976		2203	4300	6503	SO:0001819	synonymous_variant	132625			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.15G>A	4.37:g.188923976G>A			D3DP65|Q8WXE2	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L5	ENST00000326866.4	37	c.15	CCDS3849.1	4																																																																																			ZFP42	-	NULL		0.542	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	G	NM_174900		188923976	+1	no_errors	ENST00000326866	ensembl	human	known	70_37	silent	SNP	0.179	A
ZFP57	346171	genome.wustl.edu	37	6	29643801	29643801	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:29643801G>T	ENST00000488757.1	-	2	309	c.159C>A	c.(157-159)ttC>ttA	p.F53L	ZFP57_ENST00000376881.3_Missense_Mutation_p.F33L|ZFP57_ENST00000376883.1_Missense_Mutation_p.F33L	NM_001109809.2	NP_001103279.2	Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				DNA methylation involved in embryo development (GO:0043045)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system development (GO:0007422)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	nuclear heterochromatin (GO:0005720)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F33L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CTTCCTGGGTGAAATTCACTG	0.448																																																	1	Substitution - Missense(1)	cervix(1)											194.0	217.0	209.0					6																	29643801		1380	2660	4040	SO:0001583	missense	346171			AL050328	CCDS43436.1, CCDS43436.2	6p22.1	2013-01-08	2012-11-27	2005-07-20	ENSG00000204644	ENSG00000204644		"""Zinc fingers, C2H2-type"", ""-"""	18791	protein-coding gene	gene with protein product		612192	"""chromosome 6 open reading frame 40"", ""zinc finger protein 57 homolog (mouse)"""	C6orf40			Standard	NM_001109809		Approved	ZNF698, bA145L22, bA145L22.2	uc011dlw.2	Q9NU63	OTTHUMG00000031158	ENST00000488757.1:c.159C>A	6.37:g.29643801G>T	ENSP00000418259:p.Phe53Leu		B0S894|B0V254|B2RXJ7|Q5SSB1	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.F53L	ENST00000488757.1	37	c.159	CCDS43436.2	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942390	0.73672	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.12879	2.64;2.64;2.64	4.68	4.68	0.58851	.	0.000000	0.46442	D	0.000284	T	0.31857	0.0810	M	0.84511	2.7	0.35288	D	0.781917	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.15350	-1.0440	10	0.42905	T	0.14	-19.4323	15.4602	0.75349	0.0:0.0:1.0:0.0	.	53;33	Q9NU63-3;Q9NU63-2	.;.	L	53;33;33	ENSP00000418259:F53L;ENSP00000366078:F33L;ENSP00000366080:F33L	ENSP00000366078:F33L	F	-	3	2	ZFP57	29751780	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	2.778000	0.47726	2.585000	0.87301	0.655000	0.94253	TTC	ZFP57	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.448	ZFP57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP57	HGNC	protein_coding	OTTHUMT00000355773.1	G	XM_294093		29643801	-1	no_errors	ENST00000488757	ensembl	human	known	70_37	missense	SNP	0.996	T
ZFP91	80829	genome.wustl.edu	37	11	58378523	58378523	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr11:58378523G>C	ENST00000316059.6	+	5	889	c.718G>C	c.(718-720)Gaa>Caa	p.E240Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E240Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	240	Glu-rich.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.E240Q(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACCCCACTTAGAAAGGCATGT	0.388																																																	2	Substitution - Missense(2)	cervix(2)											129.0	109.0	116.0					11																	58378523		2201	4295	6496	SO:0001583	missense	80829			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.718G>C	11.37:g.58378523G>C	ENSP00000339030:p.Glu240Gln		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E240Q	ENST00000316059.6	37	c.718	CCDS31553.1	11	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067851	0.55539	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.11063	2.81	5.33	5.33	0.75918	.	13.843800	0.00166	N	0.000008	T	0.14184	0.0343	N	0.24115	0.695	0.37412	D	0.91326	B;B	0.25312	0.123;0.075	B;B	0.24974	0.057;0.026	T	0.23940	-1.0174	10	0.48119	T	0.1	-18.5775	17.9574	0.89073	0.0:0.0:1.0:0.0	.	240;240	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	Q	240	ENSP00000339030:E240Q	ENSP00000374569:E240Q	E	+	1	0	ZFP91	58135099	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.444000	0.66587	2.771000	0.95319	0.650000	0.86243	GAA	ZFP91	-	NULL		0.388	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1	G	NM_053023		58378523	+1	no_errors	ENST00000316059	ensembl	human	known	70_37	missense	SNP	1.000	C
ZFYVE16	9765	genome.wustl.edu	37	5	79747465	79747465	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr5:79747465G>C	ENST00000338008.5	+	10	3724	c.3544G>C	c.(3544-3546)Gag>Cag	p.E1182Q	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.E1182Q|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.E1182Q	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1182					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.E1182Q(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CCAGAAGCTTGAGATTCCCTG	0.348																																					Melanoma(150;1452 1854 16018 17851 37292)												1	Substitution - Missense(1)	cervix(1)											126.0	128.0	127.0					5																	79747465		2203	4300	6503	SO:0001583	missense	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3544G>C	5.37:g.79747465G>C	ENSP00000337159:p.Glu1182Gln		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.E1182Q	ENST00000338008.5	37	c.3544	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006059	0.93287	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.73258	-0.73;-0.73;-0.73	5.7	5.7	0.88788	Domain of unknown function DUF3480 (1);	0.000000	0.56097	D	0.000032	D	0.85526	0.5717	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86832	0.2011	10	0.87932	D	0	-16.3792	18.6024	0.91253	0.0:0.0:1.0:0.0	.	1182	Q7Z3T8	ZFY16_HUMAN	Q	1182	ENSP00000337159:E1182Q;ENSP00000423663:E1182Q;ENSP00000426848:E1182Q	ENSP00000337159:E1182Q	E	+	1	0	ZFYVE16	79783221	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.694000	0.98686	2.684000	0.91462	0.650000	0.86243	GAG	ZFYVE16	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.348	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	G	NM_014733		79747465	+1	no_errors	ENST00000338008	ensembl	human	known	70_37	missense	SNP	1.000	C
ZFYVE20	64145	genome.wustl.edu	37	3	15131981	15131981	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:15131981C>T	ENST00000253699.3	-	5	827	c.214G>A	c.(214-216)Gag>Aag	p.E72K	ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.E72K|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E72K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	72					blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.E72K(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTCCCTGACTCTGCTCGATCA	0.423																																																	1	Substitution - Missense(1)	cervix(1)											211.0	185.0	194.0					3																	15131981		2203	4300	6503	SO:0001583	missense	64145			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.214G>A	3.37:g.15131981C>T	ENSP00000253699:p.Glu72Lys		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E72K	ENST00000253699.3	37	c.214	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650414	0.87958	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.72615	0.6;0.6;-0.67	5.7	5.7	0.88788	.	0.101709	0.64402	D	0.000003	T	0.64148	0.2572	L	0.29908	0.895	0.80722	D	1	B;P	0.38922	0.008;0.651	B;B	0.38378	0.006;0.272	T	0.65220	-0.6221	10	0.46703	T	0.11	-19.5054	19.8437	0.96701	0.0:1.0:0.0:0.0	.	72;72	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	K	72	ENSP00000253699:E72K;ENSP00000422551:E72K;ENSP00000391039:E72K	ENSP00000253699:E72K	E	-	1	0	ZFYVE20	15106985	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	5.769000	0.68865	2.693000	0.91896	0.585000	0.79938	GAG	ZFYVE20	-	NULL		0.423	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	C	NM_022340		15131981	-1	no_errors	ENST00000253699	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFYVE26	23503	genome.wustl.edu	37	14	68257344	68257344	+	Silent	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr14:68257344C>A	ENST00000347230.4	-	15	2838	c.2700G>T	c.(2698-2700)cgG>cgT	p.R900R	ZFYVE26_ENST00000555452.1_Silent_p.R900R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	900					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.R900R(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCCAGTTCTCCGAATGGTGC	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											128.0	103.0	111.0					14																	68257344		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2700G>T	14.37:g.68257344C>A			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.R900	ENST00000347230.4	37	c.2700	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL		0.552	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	C	NM_015346		68257344	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	silent	SNP	0.541	A
ZHX1	11244	genome.wustl.edu	37	8	124267638	124267638	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:124267638G>C	ENST00000522655.1	-	3	1089	c.549C>G	c.(547-549)atC>atG	p.I183M	ZHX1_ENST00000395571.3_Missense_Mutation_p.I183M|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.I183M			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	183					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)	p.I183M(1)		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)			TCATTTTCATGATAGGAGTTT	0.353																																																	1	Substitution - Missense(1)	cervix(1)											97.0	100.0	99.0					8																	124267638		2203	4298	6501	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.549C>G	8.37:g.124267638G>C	ENSP00000428821:p.Ile183Met		Q8IWD8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.I183M	ENST00000522655.1	37	c.549	CCDS6342.1	8	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999656	0.35320	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.54675	0.56;0.56;0.56	5.66	1.31	0.21738	.	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	.	.	.	0.45676	D	0.998591	D	0.76494	0.999	D	0.85130	0.997	T	0.64441	-0.6407	9	0.49607	T	0.09	-12.4502	8.8371	0.35119	0.2502:0.0:0.6455:0.1043	.	183	Q9UKY1	ZHX1_HUMAN	M	183	ENSP00000297857:I183M;ENSP00000378938:I183M;ENSP00000428821:I183M	ENSP00000297857:I183M	I	-	3	3	ZHX1	124336819	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	0.667000	0.25112	0.312000	0.23038	0.555000	0.69702	ATC	ZHX1	-	NULL		0.353	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	G			124267638	-1	no_errors	ENST00000297857	ensembl	human	known	70_37	missense	SNP	0.996	C
ZNF233	353355	genome.wustl.edu	37	19	44778242	44778242	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:44778242G>C	ENST00000391958.2	+	5	1556	c.1429G>C	c.(1429-1431)Gag>Cag	p.E477Q	ZNF233_ENST00000334152.1_Missense_Mutation_p.E459Q|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E477Q(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CCACACTGGAGAGAAACCCTA	0.448																																																	1	Substitution - Missense(1)	cervix(1)											56.0	61.0	59.0					19																	44778242		2203	4300	6503	SO:0001583	missense	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1429G>C	19.37:g.44778242G>C	ENSP00000375820:p.Glu477Gln		B2RN78|B2RN79|Q86WL8	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.E477Q	ENST00000391958.2	37	c.1429	CCDS33047.1	19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603895	0.87157	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.25912	1.77;1.77	4.29	4.29	0.51040	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42154	0.1190	L	0.41906	1.305	0.45183	D	0.998196	D	0.89917	1.0	D	0.81914	0.995	T	0.34925	-0.9809	9	0.56958	D	0.05	-24.6845	15.8754	0.79156	0.0:0.0:1.0:0.0	.	477	A6NK53	ZN233_HUMAN	Q	459;477;372	ENSP00000334957:E459Q;ENSP00000375820:E477Q	ENSP00000280305:E372Q	E	+	1	0	ZNF233	49470082	0.998000	0.40836	0.978000	0.43139	0.997000	0.91878	3.901000	0.56303	2.102000	0.63906	0.609000	0.83330	GAG	ZNF233	-	pfscan_Znf_C2H2		0.448	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	G	NM_181756		44778242	+1	no_errors	ENST00000391958	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF236	7776	genome.wustl.edu	37	18	74616407	74616407	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr18:74616407G>C	ENST00000253159.8	+	12	2158	c.1960G>C	c.(1960-1962)Gat>Cat	p.D654H	ZNF236_ENST00000320610.9_Missense_Mutation_p.D656H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	654					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D654H(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAATGAAGCAGATAGACCATA	0.343																																																	2	Substitution - Missense(2)	cervix(2)											105.0	91.0	95.0					18																	74616407		1830	4087	5917	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1960G>C	18.37:g.74616407G>C	ENSP00000253159:p.Asp654His		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D654H	ENST00000253159.8	37	c.1960	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568435	0.86439	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12361	2.69;2.85	5.35	5.35	0.76521	.	0.056253	0.64402	D	0.000002	T	0.22627	0.0546	N	0.24115	0.695	0.58432	D	0.999998	D	0.67145	0.996	P	0.58013	0.831	T	0.01591	-1.1317	10	0.87932	D	0	.	19.4274	0.94749	0.0:0.0:1.0:0.0	.	654	Q9UL36	ZN236_HUMAN	H	654	ENSP00000253159:D654H;ENSP00000444524:D654H	ENSP00000253159:D654H	D	+	1	0	ZNF236	72745395	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.628000	0.90979	2.663000	0.90544	0.563000	0.77884	GAT	ZNF236	-	NULL		0.343	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74616407	+1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF276	92822	genome.wustl.edu	37	16	89804295	89804295	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:89804295C>T	ENST00000443381.2	+	10	1653	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	ZNF276_ENST00000568064.1_Missense_Mutation_p.S427L|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000446326.2_Missense_Mutation_p.S305L|ZNF276_ENST00000289816.5_Missense_Mutation_p.S444L	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S519L(1)|p.S444L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		ATGCGACATTCGGGAGCCAAG	0.572																																																	2	Substitution - Missense(2)	cervix(2)											117.0	107.0	110.0					16																	89804295		2198	4300	6498	SO:0001583	missense	92822			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1556C>T	16.37:g.89804295C>T	ENSP00000415836:p.Ser519Leu		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S519L	ENST00000443381.2	37	c.1556	CCDS45554.1	16	.	.	.	.	.	.	.	.	.	.	C	34	5.361831	0.95877	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.60424	0.19;0.19;0.19	5.62	5.62	0.85841	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	L	0.33485	1.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.982;0.992;0.987;0.989	T	0.71133	-0.4681	10	0.87932	D	0	-13.5122	18.6521	0.91433	0.0:1.0:0.0:0.0	.	357;519;305;444	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	L	305;444;519	ENSP00000415999:S305L;ENSP00000289816:S444L;ENSP00000415836:S519L	ENSP00000289816:S444L	S	+	2	0	ZNF276	88331796	1.000000	0.71417	0.955000	0.39395	0.826000	0.46750	7.311000	0.78958	2.650000	0.89964	0.555000	0.69702	TCG	ZNF276	-	pfscan_Znf_C2H2		0.572	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF276	HGNC	protein_coding	OTTHUMT00000422517.1	C	NM_152287		89804295	+1	no_errors	ENST00000443381	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF318	24149	genome.wustl.edu	37	6	43322623	43322623	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:43322623C>G	ENST00000361428.2	-	4	2526	c.2449G>C	c.(2449-2451)Gaa>Caa	p.E817Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.E817Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	817					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E817Q(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGTGTGGTTCAGGTACAGGG	0.507																																																	1	Substitution - Missense(1)	cervix(1)											378.0	314.0	335.0					6																	43322623		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2449G>C	6.37:g.43322623C>G	ENSP00000354964:p.Glu817Gln		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.E817Q	ENST00000361428.2	37	c.2449	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944002	0.53079	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.34072	1.38;2.58	5.98	5.11	0.69529	.	0.526840	0.22134	N	0.064158	T	0.13586	0.0329	N	0.14661	0.345	0.29547	N	0.851639	P	0.50272	0.933	P	0.44359	0.447	T	0.04005	-1.0985	10	0.25751	T	0.34	-3.6967	14.6335	0.68673	0.0:0.9307:0.0:0.0693	.	817	Q5VUA4	ZN318_HUMAN	Q	817	ENSP00000323032:E817Q;ENSP00000354964:E817Q	ENSP00000323032:E817Q	E	-	1	0	ZNF318	43430601	1.000000	0.71417	0.898000	0.35279	0.572000	0.35998	3.564000	0.53791	2.838000	0.97847	0.655000	0.94253	GAA	ZNF318	-	NULL		0.507	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	C	NM_014345		43322623	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	missense	SNP	0.912	G
ZNF334	55713	genome.wustl.edu	37	20	45131502	45131502	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:45131502C>T	ENST00000347606.4	-	5	658	c.476G>A	c.(475-477)aGa>aAa	p.R159K	ZNF334_ENST00000457685.2_Missense_Mutation_p.R121K|ZNF334_ENST00000593880.1_Missense_Mutation_p.R182K	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R159K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGGAATCTTTCTGTTTTCTTT	0.353																																																	1	Substitution - Missense(1)	cervix(1)											110.0	99.0	103.0					20																	45131502		2203	4300	6503	SO:0001583	missense	55713			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.476G>A	20.37:g.45131502C>T	ENSP00000255129:p.Arg159Lys		Q5T6U2|Q9NVW4	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.R159K	ENST00000347606.4	37	c.476	CCDS33480.1	20	.	.	.	.	.	.	.	.	.	.	C	1.016	-0.686338	0.03328	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.06768	3.51;3.26	2.73	-5.45	0.02616	.	.	.	.	.	T	0.02193	0.0068	N	0.01789	-0.72	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.42430	-0.9452	9	0.12430	T	0.62	.	5.3214	0.15883	0.1213:0.5375:0.202:0.1393	.	121;159;182	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	K	121;159	ENSP00000402582:R121K;ENSP00000255129:R159K	ENSP00000255129:R159K	R	-	2	0	ZNF334	44564909	0.000000	0.05858	0.000000	0.03702	0.657000	0.38888	-0.219000	0.09228	-2.291000	0.00666	-0.469000	0.05056	AGA	ZNF334	-	NULL		0.353	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	HGNC	protein_coding	OTTHUMT00000079575.1	C			45131502	-1	no_errors	ENST00000347606	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF384	171017	genome.wustl.edu	37	12	6782423	6782423	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr12:6782423C>T	ENST00000396801.3	-	7	1077	c.870G>A	c.(868-870)gaG>gaA	p.E290E	ZNF384_ENST00000396795.1_Silent_p.E290E|ZNF384_ENST00000361959.3_Silent_p.E290E|ZNF384_ENST00000319770.3_Silent_p.E274E|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396799.2_Silent_p.E290E|ZNF384_ENST00000355772.4_Silent_p.E235E	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	290					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.E290E(2)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGAAGGATTTCTCACAGAAGT	0.562			T	"""EWSR1, TAF15 """	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	2	Substitution - coding silent(2)	cervix(2)											132.0	110.0	117.0					12																	6782423		2203	4300	6503	SO:0001819	synonymous_variant	171017			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.870G>A	12.37:g.6782423C>T			O15407|Q7Z722|Q8N938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E290	ENST00000396801.3	37	c.870	CCDS44817.1	12																																																																																			ZNF384	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.562	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	C			6782423	-1	no_errors	ENST00000361959	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF41	7592	genome.wustl.edu	37	X	47307881	47307881	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chrX:47307881G>C	ENST00000377065.4	-	5	1927	c.1288C>G	c.(1288-1290)Cag>Gag	p.Q430E	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000313116.7_Missense_Mutation_p.Q430E|ZNF41_ENST00000397050.2_Missense_Mutation_p.Q440E	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q430E(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGGATTCTCTGATGCATCCTG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											120.0	110.0	113.0					X																	47307881		2203	4300	6503	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1288C>G	X.37:g.47307881G>C	ENSP00000366265:p.Gln430Glu		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	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.Q440E	ENST00000377065.4	37	c.1318	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767578	0.49574	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.07327	3.2;3.2;3.2	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.244785	0.21385	N	0.075420	T	0.17662	0.0424	L	0.37750	1.13	0.21719	N	0.999573	B;P;D;P;P	0.64830	0.406;0.549;0.994;0.549;0.604	B;B;D;B;B	0.68765	0.032;0.032;0.96;0.032;0.054	T	0.01504	-1.1338	10	0.66056	D	0.02	.	12.3538	0.55163	0.0:0.0:1.0:0.0	.	430;432;440;464;472	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	E	430;430;440	ENSP00000315173:Q430E;ENSP00000366265:Q430E;ENSP00000380243:Q440E	ENSP00000315173:Q430E	Q	-	1	0	ZNF41	47192825	0.804000	0.28969	1.000000	0.80357	0.997000	0.91878	0.590000	0.23954	2.063000	0.61619	0.600000	0.82982	CAG	ZNF41	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	G	NM_153380		47307881	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF418	147686	genome.wustl.edu	37	19	58438814	58438814	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:58438814G>A	ENST00000396147.1	-	4	1026	c.735C>T	c.(733-735)gtC>gtT	p.V245V	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Silent_p.V245V|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000599852.1_Silent_p.V160V|ZNF418_ENST00000425570.3_Silent_p.V266V	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V245V(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GATGATTACTGACGCTATCAT	0.428																																																	1	Substitution - coding silent(1)	cervix(1)											81.0	80.0	80.0					19																	58438814		2169	4286	6455	SO:0001819	synonymous_variant	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.735C>T	19.37:g.58438814G>A			Q2M1S2|Q670L5|Q96N18	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.V245	ENST00000396147.1	37	c.735	CCDS42642.1	19																																																																																			ZNF418	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1	G	NM_133460		58438814	-1	no_errors	ENST00000396147	ensembl	human	known	70_37	silent	SNP	0.000	A
ZSCAN32	54925	genome.wustl.edu	37	16	3433401	3433401	+	Silent	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:3433401G>C	ENST00000396852.4	-	7	1852	c.1545C>G	c.(1543-1545)ctC>ctG	p.L515L	ZSCAN32_ENST00000439568.2_Silent_p.L226L|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000304926.3_Silent_p.L303L|ZSCAN32_ENST00000396846.3_Silent_p.L515L	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	515					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)	p.L303L(1)									TTTCCAGTTTGAGCGCTGGCT	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											73.0	69.0	70.0					16																	3433401		2197	4300	6497	SO:0001819	synonymous_variant	54925			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1545C>G	16.37:g.3433401G>C			B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L515	ENST00000396852.4	37	c.1545		16																																																																																			ZNF434	-	NULL		0.478	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZNF434	HGNC	protein_coding	OTTHUMT00000251509.2	G	NM_017810		3433401	-1	no_errors	ENST00000396846	ensembl	human	known	70_37	silent	SNP	0.000	C
ZNF484	83744	genome.wustl.edu	37	9	95610231	95610231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr9:95610231C>A	ENST00000375495.3	-	5	986	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	ZNF484_ENST00000395506.3_Nonsense_Mutation_p.E282*|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Nonsense_Mutation_p.E244*|ZNF484_ENST00000395505.2_Nonsense_Mutation_p.E244*	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E280*(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCATGGCATTCATGCTGCTTT	0.428																																																	1	Substitution - Nonsense(1)	cervix(1)											96.0	91.0	93.0					9																	95610231		2203	4300	6503	SO:0001587	stop_gained	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.838G>T	9.37:g.95610231C>A	ENSP00000364645:p.Glu280*		B1AL89|B4DRI2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E282*	ENST00000375495.3	37	c.844	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	11.12	1.544252	0.27563	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	.	.	.	2.47	0.561	0.17285	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	3.8506	0.08953	0.0:0.5985:0.2514:0.1501	.	.	.	.	X	244;282;280;244	.	ENSP00000364646:E244X	E	-	1	0	ZNF484	94650052	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-3.227000	0.00549	0.133000	0.18654	-0.272000	0.10252	GAA	ZNF484	-	NULL		0.428	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	C	XM_046861		95610231	-1	no_errors	ENST00000395506	ensembl	human	known	70_37	nonsense	SNP	0.000	A
ZNF607	84775	genome.wustl.edu	37	19	38189024	38189024	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:38189024C>G	ENST00000355202.4	-	5	2603	c.2008G>C	c.(2008-2010)Gag>Cag	p.E670Q	ZNF607_ENST00000395835.3_Missense_Mutation_p.E669Q|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	670					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E670Q(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AAGGGTTTCTCACCAGTATGA	0.368																																																	1	Substitution - Missense(1)	cervix(1)											117.0	118.0	118.0					19																	38189024		2203	4300	6503	SO:0001583	missense	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.2008G>C	19.37:g.38189024C>G	ENSP00000347338:p.Glu670Gln		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	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.E670Q	ENST00000355202.4	37	c.2008	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766556	0.69878	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.25912	1.77;1.77	1.83	0.733	0.18289	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45316	0.1336	M	0.81239	2.535	0.25975	N	0.982453	D;D	0.58268	0.982;0.982	D;P	0.65233	0.933;0.82	T	0.24764	-1.0151	9	0.72032	D	0.01	.	6.0308	0.19679	0.0:0.8191:0.0:0.1809	.	670;669	Q96SK3;F5H141	ZN607_HUMAN;.	Q	670;669	ENSP00000347338:E670Q;ENSP00000438015:E669Q	ENSP00000347338:E670Q	E	-	1	0	ZNF607	42880864	0.310000	0.24527	0.830000	0.32933	0.657000	0.38888	0.817000	0.27281	0.107000	0.17824	0.462000	0.41574	GAG	ZNF607	-	pfscan_Znf_C2H2		0.368	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	C	NM_032689		38189024	-1	no_errors	ENST00000355202	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF573	126231	genome.wustl.edu	37	19	38230352	38230352	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:38230352G>C	ENST00000590414.2	-	4	1060	c.1039C>G	c.(1039-1041)Cta>Gta	p.L347V	ZNF573_ENST00000357309.3_Missense_Mutation_p.L259V|ZNF573_ENST00000536220.1_Missense_Mutation_p.L259V|ZNF573_ENST00000392138.1_Missense_Mutation_p.L260V|ZNF573_ENST00000339503.4_Missense_Mutation_p.L289V			Q86YE8	ZN573_HUMAN	zinc finger protein 573	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L289V(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CTCTGATGTAGAAGAAAGTAT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											74.0	74.0	74.0					19																	38230352		2203	4300	6503	SO:0001583	missense	126231			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1039C>G	19.37:g.38230352G>C	ENSP00000465020:p.Leu347Val		B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	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.L347V	ENST00000590414.2	37	c.1039	CCDS59381.1	19	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.673013	0.00758	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	1.87	0.567	0.17325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.17345	0.48	0.09310	N	1	B;B;B;B	0.26120	0.117;0.117;0.142;0.117	B;B;B;B	0.31191	0.046;0.076;0.125;0.076	T	0.45848	-0.9233	9	0.23302	T	0.38	.	7.5275	0.27664	0.0:0.0:0.5933:0.4067	.	260;289;327;259	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	V	260;259;259;289;259	ENSP00000375983:L260V;ENSP00000440464:L259V;ENSP00000349861:L259V;ENSP00000340171:L289V	ENSP00000340171:L289V	L	-	1	2	ZNF573	42922192	0.000000	0.05858	0.353000	0.25747	0.649000	0.38597	-0.933000	0.03959	0.844000	0.35094	0.460000	0.39030	CTA	ZNF573	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF573	HGNC	protein_coding	OTTHUMT00000459773.2	G	NM_152360		38230352	-1	no_errors	ENST00000590414	ensembl	human	known	70_37	missense	SNP	0.003	C
ZNF619	285267	genome.wustl.edu	37	3	40528735	40528735	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr3:40528735C>G	ENST00000314686.5	+	6	1091	c.686C>G	c.(685-687)tCa>tGa	p.S229*	ZNF619_ENST00000521353.1_Nonsense_Mutation_p.S285*|ZNF619_ENST00000429348.2_Nonsense_Mutation_p.S245*|ZNF619_ENST00000456778.1_Nonsense_Mutation_p.S201*|ZNF619_ENST00000432264.2_Nonsense_Mutation_p.S245*|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000447116.2_Nonsense_Mutation_p.S285*|ZNF619_ENST00000522736.1_Nonsense_Mutation_p.S236*			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S229*(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGATATAACTCAAAACTGTCA	0.428																																																	1	Substitution - Nonsense(1)	cervix(1)											60.0	61.0	61.0					3																	40528735		2203	4300	6503	SO:0001587	stop_gained	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.686C>G	3.37:g.40528735C>G	ENSP00000322529:p.Ser229*		B4E271|C9JRN5|D4PHA2|E9PCD9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S285*	ENST00000314686.5	37	c.854		3	.	.	.	.	.	.	.	.	.	.	C	35	5.548294	0.96488	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	.	.	.	2.64	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.0164	0.47691	0.0:1.0:0.0:0.0	.	.	.	.	X	229;285;245;201;236;285;245	.	ENSP00000322529:S229X	S	+	2	0	ZNF619	40503739	0.000000	0.05858	0.977000	0.42913	0.991000	0.79684	0.397000	0.20883	1.499000	0.48617	0.563000	0.77884	TCA	ZNF619	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	C	NM_173656		40528735	+1	no_errors	ENST00000447116	ensembl	human	known	70_37	nonsense	SNP	0.009	G
ZNF626	199777	genome.wustl.edu	37	19	20808319	20808319	+	Missense_Mutation	SNP	C	C	G	rs376982092		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:20808319C>G	ENST00000601440.1	-	4	510	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	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)	p.E122Q(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						ACCTTACACTCATCCACACTT	0.328																																																	1	Substitution - Missense(1)	cervix(1)											99.0	103.0	102.0					19																	20808319		2170	4283	6453	SO:0001583	missense	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.364G>C	19.37:g.20808319C>G	ENSP00000469958:p.Glu122Gln		Q8N8T4|Q96QM1	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.E122Q	ENST00000601440.1	37	c.364	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	11.19	1.567126	0.28003	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.5	0.08691	.	.	.	.	.	T	0.55162	0.1903	M	0.93638	3.44	0.09310	N	0.999997	P	0.35077	0.483	B	0.38921	0.285	T	0.56232	-0.8013	8	0.54805	T	0.06	.	5.0948	0.14727	0.3314:0.6686:0.0:0.0	.	122	Q68DY1	ZN626_HUMAN	Q	122;46;122	.	ENSP00000445201:E122Q	E	-	1	0	ZNF626	20600159	0.002000	0.14202	0.088000	0.20740	0.088000	0.18126	-0.357000	0.07651	0.284000	0.22305	0.289000	0.19496	GAG	ZNF626	-	NULL		0.328	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	C	NM_145297		20808319	-1	no_errors	ENST00000601440	ensembl	human	known	70_37	missense	SNP	0.124	G
ZNF646	9726	genome.wustl.edu	37	16	31089929	31089929	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:31089929G>C	ENST00000394979.2	+	1	2707	c.2284G>C	c.(2284-2286)Gaa>Caa	p.E762Q	ZNF646_ENST00000300850.5_Missense_Mutation_p.E762Q			O15015	ZN646_HUMAN	zinc finger protein 646	762					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E762Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGAAGGACTGGAAAGGAAGGA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											137.0	128.0	131.0					16																	31089929		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2284G>C	16.37:g.31089929G>C	ENSP00000378429:p.Glu762Gln		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E762Q	ENST00000394979.2	37	c.2284		16	.	.	.	.	.	.	.	.	.	.	g	6.690	0.495885	0.12762	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08546	3.08;3.11	5.18	2.19	0.27852	.	.	.	.	.	T	0.06416	0.0165	L	0.27053	0.805	0.09310	N	1	P	0.49090	0.919	B	0.43575	0.424	T	0.34601	-0.9822	9	0.15952	T	0.53	-0.2517	8.691	0.34267	0.3133:0.0:0.6867:0.0	.	762	O15015-2	.	Q	762	ENSP00000300850:E762Q;ENSP00000378429:E762Q	ENSP00000300850:E762Q	E	+	1	0	ZNF646	30997430	0.003000	0.15002	0.001000	0.08648	0.414000	0.31173	1.358000	0.34102	0.370000	0.24538	-0.213000	0.12676	GAA	ZNF646	-	NULL		0.532	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	G	NM_014699		31089929	+1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.001	C
ZNF646	9726	genome.wustl.edu	37	16	31090025	31090025	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:31090025G>C	ENST00000394979.2	+	1	2803	c.2380G>C	c.(2380-2382)Gac>Cac	p.D794H	ZNF646_ENST00000300850.5_Missense_Mutation_p.D794H			O15015	ZN646_HUMAN	zinc finger protein 646	794					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D794H(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGTGGATGAAGACCAGAAGCC	0.572																																																	1	Substitution - Missense(1)	cervix(1)											79.0	76.0	77.0					16																	31090025		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2380G>C	16.37:g.31090025G>C	ENSP00000378429:p.Asp794His		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D794H	ENST00000394979.2	37	c.2380		16	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001033	0.74818	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08807	3.05;3.08	5.3	5.3	0.74995	.	.	.	.	.	T	0.17280	0.0415	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	P	0.61592	0.891	T	0.19063	-1.0317	9	0.30854	T	0.27	-11.5675	17.7369	0.88396	0.0:0.0:1.0:0.0	.	794	O15015-2	.	H	794	ENSP00000300850:D794H;ENSP00000378429:D794H	ENSP00000300850:D794H	D	+	1	0	ZNF646	30997526	0.006000	0.16342	0.223000	0.23860	0.336000	0.28762	0.644000	0.24766	2.491000	0.84063	0.563000	0.77884	GAC	ZNF646	-	NULL		0.572	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	G	NM_014699		31090025	+1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.062	C
PI4KB	5298	genome.wustl.edu	37	1	151262918	151262918	+	IGR	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:151262918G>C	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.R1050T			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.E1030Q(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTATTGCACAGAGGGAAAACG	0.642																																					Colon(154;765 1838 9854 28443 37492)												1	Substitution - Missense(1)	cervix(1)											64.0	69.0	67.0					1																	151262918		2203	4300	6503	SO:0001628	intergenic_variant	57592			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262918G>C			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1030Q	ENST00000368873.1	37	c.3088		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.404669|4.404669	0.83230|0.83230	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000426871|ENST00000368879	T;T|T	0.00995|0.00659	5.46;5.46|5.94	5.27|5.27	5.27|5.27	0.74061|0.74061	Zinc finger, C2H2-like (1);|.	0.000000|.	0.34435|.	U|.	0.003967|.	T|T	0.00608|0.00608	0.0020|0.0020	L|L	0.39898|0.39898	1.24|1.24	0.36177|0.36177	D|D	0.849145|0.849145	D|P	0.76494|0.43477	0.999|0.808	D|P	0.72338|0.44359	0.977|0.447	T|T	0.81534|0.81534	-0.0889|-0.0889	10|9	0.54805|0.20519	T|T	0.06|0.43	.|.	16.4354|16.4354	0.83873|0.83873	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1030|1050	Q8N1G0|Q8N1G0-2	ZN687_HUMAN|.	Q|T	1030;1030;653|1050	ENSP00000336620:E1030Q;ENSP00000319829:E1030Q|ENSP00000357874:R1050T	ENSP00000319829:E1030Q|ENSP00000357874:R1050T	E|R	+|+	1|2	0|0	ZNF687|ZNF687	149529542|149529542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.443000|6.443000	0.73447|0.73447	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	GAG|AGA	ZNF687	-	smart_Znf_C2H2-like		0.642	PI4KB-002	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding	OTTHUMT00000034400.3	G	NM_002651		151262918	+1	no_errors	ENST00000324048	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF703	80139	genome.wustl.edu	37	8	37556024	37556024	+	Silent	SNP	G	G	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr8:37556024G>T	ENST00000331569.4	+	2	1834	c.1605G>T	c.(1603-1605)cgG>cgT	p.R535R		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	535					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R535R(1)	FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			TGTCCTTGCGGAATCCACACA	0.751																																																	1	Substitution - coding silent(1)	cervix(1)											12.0	12.0	12.0					8																	37556024		2197	4275	6472	SO:0001819	synonymous_variant	80139			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1605G>T	8.37:g.37556024G>T			Q5XG76	Silent	SNP	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.R535	ENST00000331569.4	37	c.1605	CCDS6094.1	8																																																																																			ZNF703	-	NULL		0.751	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF703	HGNC	protein_coding	OTTHUMT00000376683.2	G	NM_025069		37556024	+1	no_errors	ENST00000331569	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF720	124411	genome.wustl.edu	37	16	31733961	31733961	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr16:31733961C>T	ENST00000316491.9	+	2	217	c.18C>T	c.(16-18)ttC>ttT	p.F6F	ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000398696.3_Intron|ZNF720_ENST00000399681.3_5'UTR|ZNF720_ENST00000531864.2_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	6	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						TGTTGACATTCAGGGATGTGG	0.433																																																	0													99.0	97.0	97.0					16																	31733961		692	1591	2283	SO:0001819	synonymous_variant	124411			AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.18C>T	16.37:g.31733961C>T			Q6ZQX1	Nonsense_Mutation	SNP	NULL	p.Q11*	ENST00000316491.9	37	c.31	CCDS45473.1	16																																																																																			ZNF720	-	NULL		0.433	ZNF720-001	KNOWN	basic|CCDS	protein_coding	ZNF720	HGNC	protein_coding	OTTHUMT00000394883.3	C	NM_001004300		31733961	+1	no_errors	ENST00000529943	ensembl	human	known	70_37	nonsense	SNP	0.961	T
ZNF724P	440519	genome.wustl.edu	37	19	23414089	23414089	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:23414089C>G	ENST00000418100.1	-	3	322	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	ZNF724P_ENST00000597037.1_Missense_Mutation_p.E69Q			A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	69	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)|kidney(1)|lung(2)|ovary(2)	8						GCCACCATCTCATGTCTCTCC	0.428																																																	0																																										SO:0001583	missense	440519					19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.205G>C	19.37:g.23414089C>G	ENSP00000413411:p.Glu69Gln			Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.E69Q	ENST00000418100.1	37	c.205		19	.	.	.	.	.	.	.	.	.	.	C	10.42	1.343927	0.24339	.	.	ENSG00000196081	ENST00000418100	T	0.07567	3.18	0.51	0.51	0.16983	Krueppel-associated box (1);	.	.	.	.	T	0.07007	0.0178	.	.	.	0.09310	N	1	P	0.44380	0.834	P	0.44732	0.459	T	0.38243	-0.9670	8	0.21014	T	0.42	.	6.791	0.23699	0.0:0.9999:0.0:1.0E-4	.	69	A8MTY0	ZN724_HUMAN	Q	69	ENSP00000413411:E69Q	ENSP00000413411:E69Q	E	-	1	0	ZNF724P	23205929	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.962000	0.03841	0.518000	0.28383	0.313000	0.20887	GAG	ZNF724P	-	pfscan_Krueppel-associated_box		0.428	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	ZNF724P	HGNC	protein_coding	OTTHUMT00000465743.1	C			23414089	-1	no_errors	ENST00000597037	ensembl	human	putative	70_37	missense	SNP	0.013	G
ZNF750	79755	genome.wustl.edu	37	17	80789825	80789826	+	Frame_Shift_Ins	INS	-	-	T	rs142698629		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:80789825_80789826insT	ENST00000269394.3	-	2	1338_1339	c.505_506insA	c.(505-507)agafs	p.R169fs	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	169					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCCCTTGAGTCTGTGCTCGCCG	0.634																																																	0																																										SO:0001589	frameshift_variant	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.506dupA	17.37:g.80789826_80789826dupT	ENSP00000269394:p.Arg169fs		Q9H899	Frame_Shift_Ins	INS	NULL	p.R169fs	ENST00000269394.3	37	c.506_505	CCDS11819.1	17																																																																																			ZNF750	-	NULL		0.634	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	NM_024702		80789826	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
ZNF750	79755	genome.wustl.edu	37	17	80789969	80789969	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:80789969C>T	ENST00000269394.3	-	2	1195	c.362G>A	c.(361-363)gGa>gAa	p.G121E	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	121					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G121E(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCTGTGGGTTCCCCGGGCTTG	0.617																																																	1	Substitution - Missense(1)	cervix(1)											40.0	41.0	40.0					17																	80789969		2203	4300	6503	SO:0001583	missense	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.362G>A	17.37:g.80789969C>T	ENSP00000269394:p.Gly121Glu		Q9H899	Missense_Mutation	SNP	NULL	p.G121E	ENST00000269394.3	37	c.362	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	C	1.563	-0.536219	0.04082	.	.	ENSG00000141579	ENST00000269394	T	0.21932	1.98	5.86	-0.526	0.11913	.	0.507055	0.18827	N	0.130094	T	0.10766	0.0263	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22034	-1.0228	9	.	.	.	-10.0468	3.6403	0.08165	0.1445:0.23:0.4662:0.1593	.	121	Q32MQ0	ZN750_HUMAN	E	121	ENSP00000269394:G121E	.	G	-	2	0	ZNF750	78383258	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.149000	0.16243	0.376000	0.24707	-0.137000	0.14449	GGA	ZNF750	-	NULL		0.617	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	C	NM_024702		80789969	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF76	7629	genome.wustl.edu	37	6	35260389	35260389	+	Silent	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr6:35260389G>A	ENST00000373953.3	+	10	1256	c.990G>A	c.(988-990)tcG>tcA	p.S330S	ZNF76_ENST00000440666.2_Silent_p.S304S|ZNF76_ENST00000339411.5_Silent_p.S330S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	330					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S330S(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCGAGTACTCGAGCTTGTATA	0.622																																					Esophageal Squamous(52;92 1039 20612 23956 34676)												1	Substitution - coding silent(1)	cervix(1)											98.0	71.0	80.0					6																	35260389		2203	4300	6503	SO:0001819	synonymous_variant	7629			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.990G>A	6.37:g.35260389G>A			Q9BQB2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S330	ENST00000373953.3	37	c.990	CCDS4801.1	6																																																																																			ZNF76	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.622	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	G	NM_003427		35260389	+1	no_errors	ENST00000373953	ensembl	human	known	70_37	silent	SNP	0.003	A
ZNF814	730051	genome.wustl.edu	37	19	58385050	58385050	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:58385050G>A	ENST00000435989.2	-	3	1942	c.1708C>T	c.(1708-1710)Cac>Tac	p.H570Y	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	570					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						TCTCTAGGGTGAACTCGCTGA	0.468																																																	0													99.0	81.0	86.0					19																	58385050		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.1708C>T	19.37:g.58385050G>A	ENSP00000410545:p.His570Tyr		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.H570Y	ENST00000435989.2	37	c.1708	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	11.78	1.741734	0.30865	.	.	ENSG00000204514	ENST00000435989	T	0.28895	1.59	1.67	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40932	0.1137	H	0.95712	3.71	0.25009	N	0.991418	B	0.30584	0.286	B	0.20955	0.032	T	0.48927	-0.8991	9	0.72032	D	0.01	.	5.9789	0.19395	0.1797:0.0:0.8203:0.0	.	570	B7Z6K7	ZN814_HUMAN	Y	570	ENSP00000410545:H570Y	ENSP00000410545:H570Y	H	-	1	0	ZNF814	63076862	1.000000	0.71417	0.044000	0.18714	0.095000	0.18619	5.485000	0.66850	0.947000	0.37659	0.306000	0.20318	CAC	ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	G	XM_001725708		58385050	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	missense	SNP	0.988	A
ZNF831	128611	genome.wustl.edu	37	20	57768813	57768813	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:57768813C>T	ENST00000371030.2	+	1	2739	c.2739C>T	c.(2737-2739)ccC>ccT	p.P913P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	913							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P913P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCCAGCCCCCGCAGAGCACC	0.632																																																	1	Substitution - coding silent(1)	cervix(1)											29.0	32.0	31.0					20																	57768813		1940	4137	6077	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2739C>T	20.37:g.57768813C>T			Q5TDR4|Q8TCP0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P913	ENST00000371030.2	37	c.2739	CCDS42894.1	20																																																																																			ZNF831	-	NULL		0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57768813	+1	no_errors	ENST00000371030	ensembl	human	novel	70_37	silent	SNP	0.000	T
ZNF876P	642280	genome.wustl.edu	37	4	247422	247422	+	RNA	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr4:247422G>A	ENST00000356347.3	+	0	246					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AACTTATACTGAGAAGATATG	0.358																																																	0																																												642280			BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.247422G>A				RNA	SNP	-	NULL	ENST00000356347.3	37	NULL		4																																																																																			ZNF876P	-	-		0.358	ZNF876P-001	KNOWN	basic	processed_transcript	ZNF876P	HGNC	pseudogene	OTTHUMT00000357870.2	G	NR_027481		247422	+1	no_errors	ENST00000356347	ensembl	human	known	70_37	rna	SNP	0.004	A
ZNF878	729747	genome.wustl.edu	37	19	12155223	12155223	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:12155223C>T	ENST00000547628.1	-	4	1130	c.993G>A	c.(991-993)aaG>aaA	p.K331K	CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Silent_p.K378K|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.K331K(2)		cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CAGTGTGAGTCTTTTCATGAT	0.393																																																	2	Substitution - coding silent(2)	cervix(2)											70.0	77.0	75.0					19																	12155223		2174	4281	6455	SO:0001819	synonymous_variant	729747				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.993G>A	19.37:g.12155223C>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.K378	ENST00000547628.1	37	c.1134	CCDS45984.2	19																																																																																			ZNF878	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1	C	NM_001080404		12155223	-1	no_errors	ENST00000602107	ensembl	human	known	70_37	silent	SNP	0.020	T
ZNF91	7644	genome.wustl.edu	37	19	23543184	23543184	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:23543184G>A	ENST00000300619.7	-	4	2802	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S834F	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	866					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)	p.S866F(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAGATTTGAAGATTGATTAAA	0.358																																																	1	Substitution - Missense(1)	cervix(1)											70.0	76.0	74.0					19																	23543184		2134	4280	6414	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2597C>T	19.37:g.23543184G>A	ENSP00000300619:p.Ser866Phe		A8K5E1|B7Z6G6	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.S866F	ENST00000300619.7	37	c.2597	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	5.200	0.222519	0.09863	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.54071	0.59;0.59	1.41	-2.82	0.05787	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32704	0.0838	M	0.69185	2.1	0.09310	N	1	B;P	0.40066	0.073;0.701	B;B	0.29267	0.023;0.1	T	0.38045	-0.9679	9	0.09590	T	0.72	.	0.956	0.01385	0.1477:0.3197:0.2121:0.3205	.	834;866	Q05481-2;Q05481	.;ZNF91_HUMAN	F	866;834	ENSP00000300619:S866F;ENSP00000380272:S834F	ENSP00000300619:S866F	S	-	2	0	ZNF91	23335024	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.555000	0.05999	-1.357000	0.02180	-0.802000	0.03209	TCT	ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	G	NM_003430		23543184	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNFX1	57169	genome.wustl.edu	37	20	47870271	47870271	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr20:47870271C>G	ENST00000396105.1	-	11	3283	c.3037G>C	c.(3037-3039)Gag>Cag	p.E1013Q	ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1013Q|ZNFX1_ENST00000371754.4_Missense_Mutation_p.E1013Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1013							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E1013Q(2)		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)			GTATGGGCCTCAAGGACTTCC	0.517																																																	2	Substitution - Missense(2)	cervix(2)											248.0	223.0	232.0					20																	47870271		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.3037G>C	20.37:g.47870271C>G	ENSP00000379412:p.Glu1013Gln		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.E1013Q	ENST00000396105.1	37	c.3037	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.281630	0.95489	.	.	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	T;D;D	0.88124	2.38;-2.34;-2.34	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.94195	0.8137	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94291	0.7528	10	0.87932	D	0	-27.3172	18.9229	0.92532	0.0:1.0:0.0:0.0	.	1013	Q9P2E3	ZNFX1_HUMAN	Q	1013	ENSP00000360819:E1013Q;ENSP00000360817:E1013Q;ENSP00000379412:E1013Q	ENSP00000360817:E1013Q	E	-	1	0	ZNFX1	47303678	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.717000	0.84732	2.816000	0.96949	0.561000	0.74099	GAG	ZNFX1	-	NULL		0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	C	NM_021035		47870271	-1	no_errors	ENST00000371752	ensembl	human	known	70_37	missense	SNP	1.000	G
ZP4	57829	genome.wustl.edu	37	1	238048827	238048827	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:238048827G>C	ENST00000366570.4	-	8	1182	c.1024C>G	c.(1024-1026)Ctt>Gtt	p.L342V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	342	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.L342V(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGATCCCGAAGCAACTTCACC	0.498																																					NSCLC(166;160 2029 11600 18754 19936)												1	Substitution - Missense(1)	cervix(1)											67.0	66.0	66.0					1																	238048827		2203	4300	6503	SO:0001583	missense	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1024C>G	1.37:g.238048827G>C	ENSP00000355529:p.Leu342Val		B2RAE1	Missense_Mutation	SNP	pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.L342V	ENST00000366570.4	37	c.1024	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876984	0.51801	.	.	ENSG00000116996	ENST00000366570	D	0.83419	-1.72	4.95	4.95	0.65309	Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000002	D	0.93429	0.7904	H	0.94423	3.535	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.95188	0.8305	10	0.87932	D	0	-22.4989	15.7182	0.77685	0.0:0.0:1.0:0.0	.	342	Q12836	ZP4_HUMAN	V	342	ENSP00000355529:L342V	ENSP00000355529:L342V	L	-	1	0	ZP4	236115450	1.000000	0.71417	0.551000	0.28230	0.136000	0.21042	5.173000	0.65010	2.294000	0.77228	0.655000	0.94253	CTT	ZP4	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.498	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	G			238048827	-1	no_errors	ENST00000366570	ensembl	human	known	70_37	missense	SNP	0.997	C
ZP4	57829	genome.wustl.edu	37	1	238053866	238053866	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr1:238053866C>T	ENST00000366570.4	-	1	228	c.70G>A	c.(70-72)Gag>Aag	p.E24K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	24					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.E24K(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTGGTGCCTCAGGCTTATGC	0.532																																					NSCLC(166;160 2029 11600 18754 19936)												1	Substitution - Missense(1)	cervix(1)											58.0	55.0	56.0					1																	238053866		2203	4300	6503	SO:0001583	missense	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.70G>A	1.37:g.238053866C>T	ENSP00000355529:p.Glu24Lys		B2RAE1	Missense_Mutation	SNP	pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.E24K	ENST00000366570.4	37	c.70	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293108	0.23564	.	.	ENSG00000116996	ENST00000366570	T	0.74002	-0.8	4.42	1.27	0.21489	.	1.306050	0.05540	N	0.565651	T	0.58906	0.2155	N	0.25380	0.74	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.40664	-0.9551	10	0.35671	T	0.21	-7.1257	2.3119	0.04188	0.1964:0.4999:0.1908:0.1129	.	24	Q12836	ZP4_HUMAN	K	24	ENSP00000355529:E24K	ENSP00000355529:E24K	E	-	1	0	ZP4	236120489	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.875000	0.00718	0.080000	0.16959	0.563000	0.77884	GAG	ZP4	-	NULL		0.532	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	C			238053866	-1	no_errors	ENST00000366570	ensembl	human	known	70_37	missense	SNP	0.000	T
ZSCAN1	284312	genome.wustl.edu	37	19	58565155	58565155	+	Silent	SNP	G	G	A	rs375333796		TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr19:58565155G>A	ENST00000282326.1	+	6	1210	c.963G>A	c.(961-963)ccG>ccA	p.P321P		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	321					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)|transcription coactivator activity (GO:0003713)	p.P321P(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCTTTCCGTGCCCCGAGT	0.627																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)						G		0,4406		0,0,2203	70.0	62.0	65.0		963	1.2	0.0	19		65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZSCAN1	NM_182572.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		321/409	58565155	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.963G>A	19.37:g.58565155G>A			Q3B798|Q6WLH8|Q86WS8	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P321	ENST00000282326.1	37	c.963	CCDS12969.1	19																																																																																			ZSCAN1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	G	NM_182572		58565155	+1	no_errors	ENST00000282326	ensembl	human	known	70_37	silent	SNP	0.997	A
ZSCAN29	146050	genome.wustl.edu	37	15	43658612	43658612	+	Silent	SNP	C	C	T			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr15:43658612C>T	ENST00000396976.2	-	3	1052	c.918G>A	c.(916-918)caG>caA	p.Q306Q	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000562072.1_Silent_p.Q305Q	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	306					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)	p.Q306Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GATAGCTCTTCTGGAGACCTT	0.562																																																	1	Substitution - coding silent(1)	cervix(1)											81.0	88.0	86.0					15																	43658612		2201	4299	6500	SO:0001819	synonymous_variant	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.918G>A	15.37:g.43658612C>T			B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q306	ENST00000396976.2	37	c.918	CCDS10095.2	15																																																																																			ZSCAN29	-	NULL		0.562	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1	C	NM_152455		43658612	-1	no_errors	ENST00000396976	ensembl	human	known	70_37	silent	SNP	1.000	T
ZSWIM2	151112	genome.wustl.edu	37	2	187693420	187693420	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr2:187693420G>A	ENST00000295131.2	-	9	1232	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	398					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S398L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATTCACTGCTGAATTTTTCCA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											67.0	65.0	66.0					2																	187693420		2203	4299	6502	SO:0001583	missense	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1193C>T	2.37:g.187693420G>A	ENSP00000295131:p.Ser398Leu		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.S398L	ENST00000295131.2	37	c.1193	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	G	3.523	-0.097254	0.07010	.	.	ENSG00000163012	ENST00000295131	T	0.24151	1.87	5.2	-0.128	0.13506	.	1.236870	0.05656	N	0.586033	T	0.20455	0.0492	L	0.46947	1.48	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.31613	-0.9937	10	0.49607	T	0.09	0.136	1.8097	0.03088	0.3034:0.1334:0.4382:0.125	.	398	Q8NEG5	ZSWM2_HUMAN	L	398	ENSP00000295131:S398L	ENSP00000295131:S398L	S	-	2	0	ZSWIM2	187401665	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.057000	0.11768	-0.243000	0.09653	-0.191000	0.12829	TCA	ZSWIM2	-	NULL		0.363	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	G	NM_182521		187693420	-1	no_errors	ENST00000295131	ensembl	human	known	70_37	missense	SNP	0.000	A
ZZEF1	23140	genome.wustl.edu	37	17	3928361	3928361	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZM-01A-12D-A10S-08	TCGA-DR-A0ZM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a3d0def-beb2-4b64-b1a6-4b44d8544896	c1ad28fe-984a-4158-aaaa-bdb09b70d86b	g.chr17:3928361G>A	ENST00000381638.2	-	43	7068	c.6944C>T	c.(6943-6945)tCt>tTt	p.S2315F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2315							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S2315F(1)		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						CTGGGCCCGAGAGTCACCACA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											89.0	79.0	83.0					17																	3928361		2203	4300	6503	SO:0001583	missense	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.6944C>T	17.37:g.3928361G>A	ENSP00000371051:p.Ser2315Phe		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	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.S2315F	ENST00000381638.2	37	c.6944	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720444	0.48728	.	.	ENSG00000074755	ENST00000381638	T	0.22539	1.95	5.8	4.82	0.62117	.	0.510476	0.20256	N	0.095974	T	0.11836	0.0288	N	0.19112	0.55	0.09310	N	1	P	0.47302	0.893	B	0.34138	0.176	T	0.12167	-1.0558	10	0.72032	D	0.01	-9.9494	10.3658	0.44024	0.07:0.1358:0.7942:0.0	.	2315	O43149	ZZEF1_HUMAN	F	2315	ENSP00000371051:S2315F	ENSP00000371051:S2315F	S	-	2	0	ZZEF1	3875110	0.994000	0.37717	0.984000	0.44739	0.636000	0.38137	2.547000	0.45786	1.441000	0.47550	0.555000	0.69702	TCT	ZZEF1	-	NULL		0.532	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	G	NM_015113		3928361	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	missense	SNP	0.079	A
