#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
ACSBG1	23205	genome.wustl.edu	37	15	78473179	78473179	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:78473179C>T	ENST00000258873.4	-	9	1376	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T	ACSBG1_ENST00000541759.1_Missense_Mutation_p.A149T|ACSBG1_ENST00000560817.1_Missense_Mutation_p.A149T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	391					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCAGACTGAGCCGCCACCTCC	0.652																																																	0													92.0	83.0	86.0					15																	78473179		2196	4293	6489	SO:0001583	missense	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1171G>A	15.37:g.78473179C>T	ENSP00000258873:p.Ala391Thr		B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A391T	ENST00000258873.4	37	c.1171	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051706	0.55218	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.38240	1.49;1.15	5.48	3.49	0.39957	AMP-dependent synthetase/ligase (1);	0.134755	0.50627	D	0.000113	T	0.34629	0.0904	L	0.54965	1.715	0.44485	D	0.997424	P;P	0.42871	0.792;0.645	B;B	0.43194	0.411;0.411	T	0.10636	-1.0621	10	0.42905	T	0.14	-11.5065	9.2006	0.37256	0.1452:0.7793:0.0:0.0756	.	387;391	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	T	391;149	ENSP00000258873:A391T;ENSP00000439955:A149T	ENSP00000258873:A391T	A	-	1	0	ACSBG1	76260234	0.970000	0.33590	0.197000	0.23402	0.280000	0.26924	2.338000	0.43957	1.325000	0.45301	-0.136000	0.14681	GCT	ACSBG1	-	pfam_AMP-dep_Synth/Lig		0.652	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2	C	NM_015162		78473179	-1	no_errors	ENST00000258873	ensembl	human	known	70_37	missense	SNP	0.968	T
ACSL4	2182	genome.wustl.edu	37	X	108924278	108924278	+	Missense_Mutation	SNP	C	C	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:108924278C>G	ENST00000469796.2	-	6	1123	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	ACSL4_ENST00000348502.6_Missense_Mutation_p.E202Q|ACSL4_ENST00000340800.2_Missense_Mutation_p.E243Q			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	243					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CTGTGAATCTCAAATCCTTCA	0.343																																					Pancreas(188;358 2127 38547 41466 45492)												0													131.0	118.0	122.0					X																	108924278		2203	4300	6503	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.727G>C	X.37:g.108924278C>G	ENSP00000419171:p.Glu243Gln		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E243Q	ENST00000469796.2	37	c.727	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202294	0.22121	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.10763	2.84;2.84;2.84	6.04	6.04	0.98038	AMP-dependent synthetase/ligase (1);	0.469632	0.25369	N	0.031167	T	0.07279	0.0184	N	0.05124	-0.11	0.39476	D	0.967806	B	0.09022	0.002	B	0.14023	0.01	T	0.43861	-0.9365	10	0.19590	T	0.45	-21.5079	19.4804	0.95007	0.0:1.0:0.0:0.0	.	243	O60488	ACSL4_HUMAN	Q	202;243;243	ENSP00000262835:E202Q;ENSP00000419171:E243Q;ENSP00000339787:E243Q	ENSP00000339787:E243Q	E	-	1	0	ACSL4	108810934	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	2.892000	0.48625	2.555000	0.86185	0.513000	0.50165	GAG	ACSL4	-	pfam_AMP-dep_Synth/Lig		0.343	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	C	NM_004458		108924278	-1	no_errors	ENST00000340800	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAMTS2	9509	genome.wustl.edu	37	5	178548700	178548700	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:178548700C>T	ENST00000251582.7	-	21	3241	c.3140G>A	c.(3139-3141)cGc>cAc	p.R1047H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1047					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGGTCCGGGCGGGACAGCCA	0.632																																																	0													184.0	196.0	192.0					5																	178548700		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3140G>A	5.37:g.178548700C>T	ENSP00000251582:p.Arg1047His			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.R1047H	ENST00000251582.7	37	c.3140	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158496	0.78114	.	.	ENSG00000087116	ENST00000251582	T	0.60920	0.15	5.74	5.74	0.90152	.	0.125031	0.35207	N	0.003374	T	0.54775	0.1879	M	0.62723	1.935	0.80722	D	1	D	0.56521	0.976	B	0.42030	0.373	T	0.60742	-0.7203	10	0.54805	T	0.06	.	12.2512	0.54599	0.0:0.9231:0.0:0.0769	.	1047	O95450	ATS2_HUMAN	H	1047	ENSP00000251582:R1047H	ENSP00000251582:R1047H	R	-	2	0	ADAMTS2	178481306	1.000000	0.71417	0.928000	0.36995	0.927000	0.56198	4.253000	0.58791	2.709000	0.92574	0.555000	0.69702	CGC	ADAMTS2	-	NULL		0.632	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	C	NM_014244		178548700	-1	no_errors	ENST00000251582	ensembl	human	known	70_37	missense	SNP	0.793	T
AHNAK	79026	genome.wustl.edu	37	11	62289056	62289056	+	Missense_Mutation	SNP	G	G	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr11:62289056G>C	ENST00000378024.4	-	5	13107	c.12833C>G	c.(12832-12834)tCc>tGc	p.S4278C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4278					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTAGGAAGGGAAACATCCAC	0.502																																																	0													186.0	190.0	189.0					11																	62289056		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12833C>G	11.37:g.62289056G>C	ENSP00000367263:p.Ser4278Cys		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S4278C	ENST00000378024.4	37	c.12833	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	g	8.426	0.847563	0.17034	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.73	4.73	0.59995	.	0.380289	0.19300	N	0.117675	T	0.33352	0.0860	M	0.93594	3.435	0.09310	N	1	D	0.76494	0.999	D	0.65874	0.939	T	0.37033	-0.9723	10	0.72032	D	0.01	.	15.5867	0.76489	0.0:0.0:1.0:0.0	.	4278	Q09666	AHNK_HUMAN	C	4278	ENSP00000367263:S4278C	ENSP00000367263:S4278C	S	-	2	0	AHNAK	62045632	0.991000	0.36638	0.071000	0.20095	0.002000	0.02628	5.232000	0.65332	2.194000	0.70268	0.543000	0.68304	TCC	AHNAK	-	NULL		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	G	NM_024060		62289056	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.108	C
ALPK3	57538	genome.wustl.edu	37	15	85411341	85411341	+	Splice_Site	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:85411341G>A	ENST00000258888.5	+	14	5545		c.e14-1			NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3						heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTGGCTGCAGATACCAGGGC	0.622																																																	0													94.0	105.0	101.0					15																	85411341		2203	4299	6502	SO:0001630	splice_region_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5379-1G>A	15.37:g.85411341G>A			Q9P2L6	Splice_Site	SNP	-	e14-1	ENST00000258888.5	37	c.5379-1	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455330	0.63401	.	.	ENSG00000136383	ENST00000258888	.	.	.	4.62	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9291	0.47207	0.0922:0.0:0.9078:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALPK3	83212345	1.000000	0.71417	0.862000	0.33874	0.918000	0.54935	9.060000	0.93907	1.306000	0.44926	0.556000	0.70494	.	ALPK3	-	-		0.622	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	G	NM_020778	Intron	85411341	+1	no_errors	ENST00000258888	ensembl	human	known	70_37	splice_site	SNP	0.999	A
ANGEL2	90806	genome.wustl.edu	37	1	213173781	213173781	+	Intron	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:213173781G>A	ENST00000366962.3	-	7	1416				ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000473303.1_Intron|ANGEL2_ENST00000544555.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)											central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CCTTAATATCGTCATCTTACT	0.343																																																	0													112.0	87.0	95.0					1																	213173781		692	1591	2283	SO:0001627	intron_variant	90806			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1262-56C>T	1.37:g.213173781G>A			B7Z2U4|D3DTA3|Q86X13|Q8NHH3	RNA	SNP	-	NULL	ENST00000366962.3	37	NULL	CCDS1512.1	1																																																																																			ANGEL2	-	-		0.343	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	HGNC	protein_coding	OTTHUMT00000089693.1	G	NM_144567		213173781	-1	no_errors	ENST00000498650	ensembl	human	known	70_37	rna	SNP	0.000	A
ANKFY1	51479	genome.wustl.edu	37	17	4088126	4088126	+	Silent	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:4088126G>T	ENST00000341657.4	-	12	1721	c.1686C>A	c.(1684-1686)atC>atA	p.I562I	ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000570535.1_Silent_p.I604I|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000574367.1_Silent_p.I562I|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	562					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCTGCTCCAGGATGACAGACA	0.512																																																	0													83.0	87.0	86.0					17																	4088126		2111	4223	6334	SO:0001819	synonymous_variant	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1686C>A	17.37:g.4088126G>T			A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.I604	ENST00000341657.4	37	c.1812		17																																																																																			ANKFY1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.512	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	G	NM_016376		4088126	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	silent	SNP	1.000	T
ANKRD16	54522	genome.wustl.edu	37	10	5925012	5925012	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:5925012C>T	ENST00000380094.5	-	5	1349	c.806G>A	c.(805-807)aGa>aAa	p.R269K	ANKRD16_ENST00000380092.4_Missense_Mutation_p.R269K|ANKRD16_ENST00000191063.8_Missense_Mutation_p.R269K	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	269										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						TGATGTGGCTCTCACATCTAC	0.527																																																	0													172.0	134.0	147.0					10																	5925012		2203	4300	6503	SO:0001583	missense	54522			AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.806G>A	10.37:g.5925012C>T	ENSP00000369436:p.Arg269Lys		A6NEF0|F8WEI4|Q9NT01	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.R269K	ENST00000380094.5	37	c.806	CCDS31136.1	10	.	.	.	.	.	.	.	.	.	.	C	9.255	1.041793	0.19748	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.64618	2.53;2.53;-0.11	5.33	3.48	0.39840	Ankyrin repeat-containing domain (4);	0.094831	0.64402	N	0.000001	T	0.32882	0.0844	N	0.04686	-0.185	0.44611	D	0.997588	B;B	0.14438	0.01;0.008	B;B	0.18871	0.023;0.015	T	0.21930	-1.0231	10	0.02654	T	1	-6.3223	8.6247	0.33881	0.0:0.7648:0.0:0.2352	.	269;269	Q6P6B7;F8WEI4	ANR16_HUMAN;.	K	269	ENSP00000369436:R269K;ENSP00000369434:R269K;ENSP00000352361:R269K	ENSP00000352361:R269K	R	-	2	0	ANKRD16	5965018	1.000000	0.71417	0.010000	0.14722	0.045000	0.14185	2.535000	0.45685	0.646000	0.30693	0.558000	0.71614	AGA	ANKRD16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.527	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ANKRD16	HGNC	protein_coding	OTTHUMT00000046611.2	C	XM_166138		5925012	-1	no_errors	ENST00000380092	ensembl	human	known	70_37	missense	SNP	0.981	T
AR	367	genome.wustl.edu	37	X	66766391	66766391	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:66766391G>A	ENST00000374690.3	+	1	1927	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D	AR_ENST00000504326.1_Missense_Mutation_p.G468D|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.G468D	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	466	Modulating.|Poly-Gly.		Missing.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ggcggcggcggcggcggcggc	0.736									Androgen Insensitivity Syndrome																																								0													2.0	2.0	2.0					X																	66766391		687	1653	2340	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1403G>A	X.37:g.66766391G>A	ENSP00000363822:p.Gly468Asp		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.G468D	ENST00000374690.3	37	c.1403	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	g	8.323	0.824853	0.16678	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.93953	-2.86;-3.32;-2.81	0.15	0.15	0.14883	.	0.529665	0.11260	U	0.582684	D	0.93298	0.7864	L	0.55213	1.73	0.09310	N	1	B;D;D	0.89917	0.112;0.996;1.0	B;D;D	0.73380	0.118;0.954;0.98	D	0.83792	0.0231	9	0.07175	T	0.84	.	.	.	.	.	468;468;467	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	D	278;468;468;468;460	ENSP00000363822:G468D;ENSP00000421155:G468D;ENSP00000379359:G468D	ENSP00000363822:G468D	G	+	2	0	AR	66683116	0.041000	0.20044	0.007000	0.13788	0.008000	0.06430	1.030000	0.30153	0.181000	0.19994	0.183000	0.17082	GGC	AR	-	NULL		0.736	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66766391	+1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	0.007	A
ARHGAP18	93663	genome.wustl.edu	37	6	129959716	129959716	+	Missense_Mutation	SNP	C	C	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr6:129959716C>A	ENST00000368149.2	-	3	463	c.375G>T	c.(373-375)gaG>gaT	p.E125D		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTCCAGCAGACTCTCCGAAGA	0.458																																																	0													88.0	92.0	91.0					6																	129959716		2203	4300	6503	SO:0001583	missense	93663			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.375G>T	6.37:g.129959716C>A	ENSP00000357131:p.Glu125Asp			Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E125D	ENST00000368149.2	37	c.375	CCDS34535.1	6	.	.	.	.	.	.	.	.	.	.	C	7.697	0.692335	0.15039	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.83	1.72	0.24424	.	0.158481	0.56097	D	0.000037	T	0.26521	0.0648	L	0.53249	1.67	0.35520	D	0.801325	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.04360	-1.0957	8	.	.	.	.	5.1481	0.14996	0.1026:0.5721:0.1878:0.1374	.	125;125	A9UK01;Q8N392	.;RHG18_HUMAN	D	80;125	.	.	E	-	3	2	ARHGAP18	130001409	0.884000	0.30299	0.828000	0.32881	0.850000	0.48378	0.502000	0.22594	0.737000	0.32582	-0.355000	0.07637	GAG	ARHGAP18	-	NULL		0.458	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	HGNC	protein_coding	OTTHUMT00000042185.2	C	NM_033515		129959716	-1	no_errors	ENST00000275189	ensembl	human	known	70_37	missense	SNP	0.678	A
ARL3	403	genome.wustl.edu	37	10	104459241	104459241	+	Missense_Mutation	SNP	G	G	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:104459241G>C	ENST00000260746.5	-	3	284	c.153C>G	c.(151-153)ttC>ttG	p.F51L		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	51					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		TTTTGATGTTGAAACCCTGAA	0.299																																																	0													76.0	70.0	72.0					10																	104459241		2202	4298	6500	SO:0001583	missense	403			U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.153C>G	10.37:g.104459241G>C	ENSP00000260746:p.Phe51Leu		B2R6C7|Q53X83|Q5JSM2	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_ATPase_AAA_core,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,prints_Gprotein_alpha_su,tigrfam_Small_GTP-bd_dom	p.F51L	ENST00000260746.5	37	c.153	CCDS7538.1	10	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873401	0.72180	.	.	ENSG00000138175	ENST00000260746	T	0.67698	-0.28	5.73	0.812	0.18744	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	M	0.85299	2.745	0.58432	D	0.999998	D	0.54964	0.969	P	0.54060	0.741	T	0.76318	-0.3003	10	0.87932	D	0	-18.3691	10.1159	0.42589	0.6435:0.0:0.3565:0.0	.	51	P36405	ARL3_HUMAN	L	51	ENSP00000260746:F51L	ENSP00000260746:F51L	F	-	3	2	ARL3	104449231	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	2.024000	0.41049	-0.039000	0.13602	-0.302000	0.09304	TTC	ARL3	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_ATPase_AAA_core,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.299	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL3	HGNC	protein_coding	OTTHUMT00000050088.2	G	NM_004311		104459241	-1	no_errors	ENST00000260746	ensembl	human	known	70_37	missense	SNP	0.997	C
ASIC1	41	genome.wustl.edu	37	12	50467395	50467395	+	Intron	SNP	T	T	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr12:50467395T>C	ENST00000447966.2	+	4	787				ASIC1_ENST00000228468.4_Intron|ASIC1_ENST00000552438.1_Missense_Mutation_p.S10P	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CTGCTCCATGTCATTCTCCTC	0.582																																																	0																																										SO:0001627	intron_variant	41			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.559-3601T>C	12.37:g.50467395T>C			A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.S10P	ENST00000447966.2	37	c.28	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239473	0.58995	.	.	ENSG00000110881	ENST00000552438	T	0.66995	-0.24	3.7	3.7	0.42460	.	.	.	.	.	T	0.73265	0.3565	.	.	.	0.34141	D	0.666402	.	.	.	.	.	.	T	0.82287	-0.0532	6	0.62326	D	0.03	.	12.8689	0.57955	0.0:0.0:0.0:1.0	.	.	.	.	P	10	ENSP00000450247:S10P	ENSP00000450247:S10P	S	+	1	0	ACCN2	48753662	1.000000	0.71417	0.981000	0.43875	0.569000	0.35902	4.808000	0.62583	1.696000	0.51158	0.460000	0.39030	TCA	ASIC1	-	NULL		0.582	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC1	HGNC	protein_coding	OTTHUMT00000406004.2	T	NM_020039		50467395	+1	no_errors	ENST00000552438	ensembl	human	putative	70_37	missense	SNP	1.000	C
ATCAY	85300	genome.wustl.edu	37	19	3885794	3885794	+	Missense_Mutation	SNP	T	T	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:3885794T>C	ENST00000450849.2	+	2	496	c.29T>C	c.(28-30)aTg>aCg	p.M10T	ATCAY_ENST00000600960.1_Missense_Mutation_p.M10T|ATCAY_ENST00000595916.1_3'UTR|ATCAY_ENST00000301260.6_Missense_Mutation_p.M10T|ATCAY_ENST00000398448.3_5'UTR	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	10					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGCTCCGGATGGAAAACGTG	0.582																																																	0													35.0	39.0	37.0					19																	3885794		1947	3970	5917	SO:0001583	missense	85300				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.29T>C	19.37:g.3885794T>C	ENSP00000390941:p.Met10Thr		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.M10T	ENST00000450849.2	37	c.29	CCDS45923.1	19	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436167	0.62955	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000539301	T;T	0.52983	0.64;0.64	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	M	0.72118	2.19	0.80722	D	1	D	0.60160	0.987	D	0.66196	0.942	T	0.67764	-0.5586	10	0.87932	D	0	-3.4805	11.0422	0.47838	0.0:0.0:0.0:1.0	.	10	Q86WG3	ATCAY_HUMAN	T	10	ENSP00000390941:M10T;ENSP00000301260:M10T	ENSP00000301260:M10T	M	+	2	0	ATCAY	3836794	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.181000	0.65054	1.632000	0.50472	0.402000	0.26972	ATG	ATCAY	-	NULL		0.582	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	T			3885794	+1	no_errors	ENST00000301260	ensembl	human	known	70_37	missense	SNP	1.000	C
ATP1A1	476	genome.wustl.edu	37	1	116933017	116933017	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:116933017delG	ENST00000295598.5	+	9	1458	c.1206delG	c.(1204-1206)acgfs	p.T403fs	ATP1A1_ENST00000369496.4_Frame_Shift_Del_p.T372fs|ATP1A1_ENST00000537345.1_Frame_Shift_Del_p.T403fs	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	403					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AAGCTGATACGACAGAGAATC	0.453																																																	0													61.0	60.0	60.0					1																	116933017		2203	4300	6503	SO:0001589	frameshift_variant	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1206delG	1.37:g.116933017delG	ENSP00000295598:p.Thr403fs		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.T403fs	ENST00000295598.5	37	c.1206	CCDS887.1	1																																																																																			ATP1A1	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.453	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	G	NM_001160233		116933017	+1	no_errors	ENST00000295598	ensembl	human	known	70_37	frame_shift_del	DEL	0.946	-
C19orf57	79173	genome.wustl.edu	37	19	14000393	14000393	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:14000393C>T	ENST00000586783.1	-	5	1275	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	C19orf57_ENST00000346736.2_Missense_Mutation_p.G426R|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Missense_Mutation_p.G426R			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	426					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ATGGACTCTCCGCTCCCAGGT	0.622																																																	0													44.0	47.0	46.0					19																	14000393		2203	4300	6503	SO:0001583	missense	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1276G>A	19.37:g.14000393C>T	ENSP00000465822:p.Gly426Arg		Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	NULL	p.G426R	ENST00000586783.1	37	c.1276		19	.	.	.	.	.	.	.	.	.	.	C	4.704	0.130823	0.08981	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.40476	1.03;1.03	4.43	-3.44	0.04796	.	1.480890	0.04305	N	0.347952	T	0.15652	0.0377	N	0.08118	0	0.09310	N	1	B;B	0.21520	0.057;0.057	B;B	0.14023	0.01;0.01	T	0.17623	-1.0363	10	0.02654	T	1	0.2708	2.3776	0.04346	0.1884:0.4289:0.2326:0.1501	.	426;426	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	R	426	ENSP00000404382:G426R;ENSP00000254336:G426R	ENSP00000254336:G426R	G	-	1	0	C19orf57	13861393	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.156000	0.10100	-0.336000	0.08438	-1.018000	0.02450	GGA	C19orf57	-	NULL		0.622	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	C	NM_024323		14000393	-1	no_errors	ENST00000454313	ensembl	human	known	70_37	missense	SNP	0.000	T
C9orf3	84909	genome.wustl.edu	37	9	97563233	97563233	+	Missense_Mutation	SNP	G	G	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:97563233G>C	ENST00000375315.2	+	4	1313	c.1313G>C	c.(1312-1314)cGg>cCg	p.R438P	C9orf3_ENST00000395357.2_Missense_Mutation_p.R58P|C9orf3_ENST00000277198.2_Missense_Mutation_p.R438P|C9orf3_ENST00000297979.5_Missense_Mutation_p.R438P	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	438					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)			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)		CCGTTCTCTCGGCTGGATGTT	0.547																																																	0													123.0	117.0	119.0					9																	97563233		2203	4300	6503	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1313G>C	9.37:g.97563233G>C	ENSP00000364464:p.Arg438Pro		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.R438P	ENST00000375315.2	37	c.1313	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635193	0.87760	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000395357	T;T;T;T;T;T	0.05382	4.11;3.45;3.45;3.45;3.45;4.11	5.17	5.17	0.71159	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.996;1.0;0.989	T	0.00270	-1.1860	10	0.87932	D	0	-13.9324	18.8557	0.92251	0.0:0.0:1.0:0.0	.	438;438;438;438	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	P	438;438;438;261;220;58	ENSP00000277198:R438P;ENSP00000297979:R438P;ENSP00000364464:R438P;ENSP00000402171:R261P;ENSP00000401854:R220P;ENSP00000378763:R58P	ENSP00000277198:R438P	R	+	2	0	C9orf3	96603054	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.275000	0.89892	2.688000	0.91661	0.650000	0.86243	CGG	C9orf3	-	pfam_Peptidase_M1_N		0.547	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		G	NM_032823		97563233	+1	no_errors	ENST00000375315	ensembl	human	known	70_37	missense	SNP	1.000	C
CACNA1H	8912	genome.wustl.edu	37	16	1250536	1250536	+	Missense_Mutation	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:1250536G>T	ENST00000348261.5	+	7	1332	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	CACNA1H_ENST00000565831.1_Missense_Mutation_p.D362Y|CACNA1H_ENST00000358590.4_Missense_Mutation_p.D362Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	362					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CATCAACTTCGACAACATCGG	0.652																																																	0													55.0	60.0	58.0					16																	1250536		2119	4213	6332	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1084G>T	16.37:g.1250536G>T	ENSP00000334198:p.Asp362Tyr		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.D362Y	ENST00000348261.5	37	c.1084	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633331	0.87660	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97598	-4.45;-4.45	4.4	4.4	0.53042	Ion transport (1);	0.053364	0.64402	D	0.000001	D	0.99187	0.9718	H	0.99238	4.48	0.44432	D	0.997357	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98579	1.0649	10	0.87932	D	0	.	16.1439	0.81551	0.0:0.0:1.0:0.0	.	362;362	O95180-2;O95180	.;CAC1H_HUMAN	Y	362	ENSP00000334198:D362Y;ENSP00000351401:D362Y	ENSP00000334198:D362Y	D	+	1	0	CACNA1H	1190537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.500000	0.81588	2.275000	0.75901	0.586000	0.80456	GAC	CACNA1H	-	pfam_Ion_trans_dom		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	G	NM_001005407		1250536	+1	no_errors	ENST00000348261	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC14A	8556	genome.wustl.edu	37	1	100949940	100949940	+	Missense_Mutation	SNP	C	C	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:100949940C>G	ENST00000336454.3	+	11	1425	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000544534.1_Missense_Mutation_p.S357C|CDC14A_ENST00000370124.3_Missense_Mutation_p.S357C|CDC14A_ENST00000361544.6_Missense_Mutation_p.S357C|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.S299C	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	357					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AAAATTCTTTCTGGCCTAGAT	0.363																																																	0													68.0	69.0	68.0					1																	100949940		2203	4300	6503	SO:0001583	missense	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1070C>G	1.37:g.100949940C>G	ENSP00000336739:p.Ser357Cys		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S357C	ENST00000336454.3	37	c.1070	CCDS769.1	1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450206	0.43531	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T	0.11821	2.74;2.75;2.81;2.92;2.75	5.65	5.65	0.86999	.	0.275870	0.41712	D	0.000832	T	0.12050	0.0293	M	0.72894	2.215	0.47245	D	0.999368	B;B;B;B;B	0.28760	0.221;0.141;0.141;0.221;0.061	B;B;B;B;B	0.30179	0.112;0.052;0.03;0.112;0.031	T	0.01172	-1.1429	10	0.54805	T	0.06	-15.1388	16.6441	0.85172	0.0:1.0:0.0:0.0	.	299;357;357;357;357	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	C	299;357;357;357;357	ENSP00000442640:S299C;ENSP00000354916:S357C;ENSP00000359142:S357C;ENSP00000336739:S357C;ENSP00000442543:S357C	ENSP00000336739:S357C	S	+	2	0	CDC14A	100722528	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	3.074000	0.50065	2.658000	0.90341	0.555000	0.69702	TCT	CDC14A	-	NULL		0.363	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1	C	NM_033312		100949940	+1	no_errors	ENST00000361544	ensembl	human	known	70_37	missense	SNP	1.000	G
CDH9	1007	genome.wustl.edu	37	5	26885962	26885962	+	Missense_Mutation	SNP	C	C	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:26885962C>A	ENST00000231021.4	-	11	1815	c.1643G>T	c.(1642-1644)gGa>gTa	p.G548V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGTCATGATTCCTGCTGTATT	0.323																																					Melanoma(8;187 585 15745 40864 52829)												0													56.0	59.0	58.0					5																	26885962		2203	4300	6503	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1643G>T	5.37:g.26885962C>A	ENSP00000231021:p.Gly548Val		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G548V	ENST00000231021.4	37	c.1643	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440024	0.43326	.	.	ENSG00000113100	ENST00000231021	T	0.17528	2.27	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.265346	0.43747	D	0.000528	T	0.33381	0.0861	L	0.56280	1.765	0.80722	D	1	P;P	0.48764	0.915;0.915	P;P	0.55749	0.783;0.703	T	0.00212	-1.1914	9	.	.	.	.	18.5999	0.91246	0.0:1.0:0.0:0.0	.	141;548	B4DFP0;Q9ULB4	.;CADH9_HUMAN	V	548	ENSP00000231021:G548V	.	G	-	2	0	CDH9	26921719	0.989000	0.36119	0.999000	0.59377	0.755000	0.42902	4.071000	0.57556	2.740000	0.93945	0.563000	0.77884	GGA	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.323	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	C	NM_016279		26885962	-1	no_errors	ENST00000231021	ensembl	human	known	70_37	missense	SNP	0.996	A
CDK5R1	8851	genome.wustl.edu	37	17	30814673	30814673	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:30814673G>A	ENST00000313401.3	+	2	724	c.35G>A	c.(34-36)cGg>cAg	p.R12Q		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	12					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CCCAGCTACCGGAAGGCCACG	0.687																																																	0													41.0	38.0	39.0					17																	30814673		2203	4300	6503	SO:0001583	missense	8851			X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.35G>A	17.37:g.30814673G>A	ENSP00000318486:p.Arg12Gln		E1P664|Q5U0G3	Missense_Mutation	SNP	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.R12Q	ENST00000313401.3	37	c.35	CCDS11273.1	17	.	.	.	.	.	.	.	.	.	.	g	18.13	3.555970	0.65425	.	.	ENSG00000176749	ENST00000313401	T	0.78003	-1.14	5.01	4.03	0.46877	.	0.070456	0.56097	D	0.000023	T	0.75708	0.3886	M	0.69823	2.125	0.41216	D	0.986474	B	0.17268	0.021	B	0.13407	0.009	T	0.73726	-0.3892	10	0.56958	D	0.05	-18.9646	12.4599	0.55727	0.0:0.0:0.8308:0.1692	.	12	Q15078	CD5R1_HUMAN	Q	12	ENSP00000318486:R12Q	ENSP00000318486:R12Q	R	+	2	0	CDK5R1	27838786	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	5.041000	0.64196	1.073000	0.40885	0.450000	0.29827	CGG	CDK5R1	-	pfam_CDK5_activator,pirsf_CDK5_activator		0.687	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R1	HGNC	protein_coding	OTTHUMT00000256264.1	G	NM_003885		30814673	+1	no_errors	ENST00000313401	ensembl	human	known	70_37	missense	SNP	0.999	A
CDKL5	6792	genome.wustl.edu	37	X	18627006	18627007	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:18627006_18627007TC>AT	ENST00000379989.3	+	14	2305_2306	c.2020_2021TC>AT	c.(2020-2022)TCc>ATc	p.S674I	CDKL5_ENST00000379996.3_Missense_Mutation_p.S674I|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	674					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGGCACCTCTTCCTTCCATACA	0.406																																																	0																																										SO:0001583	missense	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	Exception_encountered	X.37:g.18627006_18627007delinsAT	ENSP00000369325:p.Ser674Ile		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	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.S674T|p.S674F	ENST00000379989.3	37	c.2020|c.2021	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.406	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	T|C	NM_003159		18627006|18627007	+1	no_errors	ENST00000379989	ensembl	human	known	70_37	missense	SNP	0.993|0.997	A|T
CHD6	84181	genome.wustl.edu	37	20	40040787	40040787	+	Silent	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr20:40040787C>T	ENST00000373233.3	-	36	7425	c.7248G>A	c.(7246-7248)ctG>ctA	p.L2416L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2416					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)			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)				TCCTTACCCTCAGTCCTGGCT	0.567																																																	0													99.0	88.0	91.0					20																	40040787		2203	4300	6503	SO:0001819	synonymous_variant	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.7248G>A	20.37:g.40040787C>T			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	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.L2416	ENST00000373233.3	37	c.7248	CCDS13317.1	20																																																																																			CHD6	-	pfam_BRK_domain,smart_BRK_domain		0.567	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40040787	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	silent	SNP	0.995	T
CNOT6L	246175	genome.wustl.edu	37	4	78695822	78695822	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr4:78695822G>A	ENST00000504123.1	-	3	306	c.176C>T	c.(175-177)aCa>aTa	p.T59I	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.T59I			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	59	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GTGCAGCGCTGTCAAGTGTGT	0.423																																																	0													86.0	81.0	83.0					4																	78695822		1969	4180	6149	SO:0001583	missense	246175			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.176C>T	4.37:g.78695822G>A	ENSP00000424896:p.Thr59Ile		Q9UF92	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.T59I	ENST00000504123.1	37	c.176		4	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397744	0.83120	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	L	0.33792	1.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70699	-0.4800	10	0.54805	T	0.06	-14.9073	17.1159	0.86688	0.0:0.0:1.0:0.0	.	59;59	B4E2S0;Q96LI5	.;CNO6L_HUMAN	I	59;59;66;59	ENSP00000424896:T59I;ENSP00000264903:T59I;ENSP00000425571:T66I;ENSP00000426269:T59I	ENSP00000264903:T59I	T	-	2	0	CNOT6L	78914846	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.749000	0.98871	2.071000	0.62044	0.561000	0.74099	ACA	CNOT6L	-	smart_Leu-rich_rpt_typical-subtyp		0.423	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	CNOT6L	HGNC	protein_coding	OTTHUMT00000362515.1	G			78695822	-1	no_errors	ENST00000264903	ensembl	human	known	70_37	missense	SNP	1.000	A
CNTN6	27255	genome.wustl.edu	37	3	1424826	1424826	+	Silent	SNP	G	G	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:1424826G>C	ENST00000446702.2	+	18	2994	c.2367G>C	c.(2365-2367)ctG>ctC	p.L789L	CNTN6_ENST00000539053.1_Silent_p.L717L|CNTN6_ENST00000350110.2_Silent_p.L789L			Q9UQ52	CNTN6_HUMAN	contactin 6	789	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGGATCCCTGAGTACTGTGA	0.418																																																	0													134.0	121.0	126.0					3																	1424826		2203	4300	6503	SO:0001819	synonymous_variant	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2367G>C	3.37:g.1424826G>C			Q2KHM2	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L789	ENST00000446702.2	37	c.2367	CCDS2557.1	3																																																																																			CNTN6	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	G	NM_014461		1424826	+1	no_errors	ENST00000350110	ensembl	human	known	70_37	silent	SNP	1.000	C
COL15A1	1306	genome.wustl.edu	37	9	101751495	101751495	+	Silent	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:101751495C>T	ENST00000375001.3	+	5	1182	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	253	Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGAGGCAGACGGAGTAGCTG	0.567																																																	0													134.0	98.0	110.0					9																	101751495		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.759C>T	9.37:g.101751495C>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.D253	ENST00000375001.3	37	c.759	CCDS35081.1	9																																																																																			COL15A1	-	NULL		0.567	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	C	NM_001855		101751495	+1	no_errors	ENST00000375001	ensembl	human	known	70_37	silent	SNP	0.000	T
COLQ	8292	genome.wustl.edu	37	3	15531137	15531137	+	Silent	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:15531137G>A	ENST00000383788.5	-	2	239	c.114C>T	c.(112-114)ccC>ccT	p.P38P	COLQ_ENST00000383787.2_Silent_p.P38P|COLQ_ENST00000383781.4_Silent_p.P28P|COLQ_ENST00000603808.1_Silent_p.P38P|COLQ_ENST00000383786.5_Silent_p.P38P|COLQ_ENST00000435459.2_Silent_p.P28P|COLQ_ENST00000383785.2_Silent_p.P38P	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	38					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GATCCAGGCTGGGAAGGGCTG	0.607																																																	0													78.0	60.0	66.0					3																	15531137		2203	4300	6503	SO:0001819	synonymous_variant	8292			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.114C>T	3.37:g.15531137G>A			B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	pfam_Collagen,tigrfam_Myxo_disulph_rpt	p.P38	ENST00000383788.5	37	c.114	CCDS33709.1	3																																																																																			COLQ	-	NULL		0.607	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	HGNC	protein_coding	OTTHUMT00000343575.1	G	NM_005677		15531137	-1	no_errors	ENST00000383788	ensembl	human	known	70_37	silent	SNP	0.185	A
TSGA13	114960	genome.wustl.edu	37	7	130353481	130353481	+	IGR	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr7:130353481C>T	ENST00000456951.1	-	0	2046				COPG2_ENST00000445977.2_Missense_Mutation_p.E10K			Q96PP4	TSG13_HUMAN	testis specific, 13											endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CCAGACTCCTCGTCCTTCTTG	0.697																																																	0													25.0	34.0	31.0					7																	130353481		1875	4087	5962	SO:0001628	intergenic_variant	26958			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999		7.37:g.130353481C>T			B3KSC9	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold	p.E10K	ENST00000456951.1	37	c.28	CCDS5824.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.144045	0.94603	.	.	ENSG00000158623	ENST00000445977;ENST00000330992	.	.	.	4.46	4.46	0.54185	.	0.000000	0.64402	U	0.000001	T	0.57519	0.2059	M	0.80183	2.485	0.58432	D	0.999999	P	0.46395	0.877	B	0.36378	0.223	T	0.69390	-0.5158	9	0.62326	D	0.03	.	14.974	0.71257	0.0:1.0:0.0:0.0	.	10	Q9UBF2	COPG2_HUMAN	K	10	.	ENSP00000331218:E10K	E	-	1	0	COPG2	130004021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.126000	0.71635	2.175000	0.68902	0.561000	0.74099	GAG	COPG2	-	NULL		0.697	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG2	HGNC	protein_coding	OTTHUMT00000337997.1	C	NM_052933		130353481	-1	no_errors	ENST00000445977	ensembl	human	known	70_37	missense	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113246671	113246671	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:113246671G>A	ENST00000297405.5	-	68	10907	c.10663C>T	c.(10663-10665)Cgc>Tgc	p.R3555C	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3515C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3386C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3485C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3555						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGATATATGCGTAACATTAGG	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													160.0	158.0	159.0					8																	113246671		2203	4299	6502	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10663C>T	8.37:g.113246671G>A	ENSP00000297405:p.Arg3555Cys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R3555C	ENST00000297405.5	37	c.10663	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326153	0.60743	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25579	2.11;2.1;2.11;1.79;2.11	5.16	5.16	0.70880	.	0.285984	0.28766	N	0.014203	T	0.21387	0.0515	N	0.22421	0.69	0.31989	N	0.604882	P;P;B	0.47762	0.879;0.9;0.027	B;B;B	0.40256	0.324;0.157;0.032	T	0.13072	-1.0523	10	0.72032	D	0.01	.	18.8461	0.92208	0.0:0.0:1.0:0.0	.	3386;3555;3515	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3515;3555;2825;3386;3485	ENSP00000345799:R3515C;ENSP00000297405:R3555C;ENSP00000341558:R2825C;ENSP00000412263:R3386C;ENSP00000343124:R3485C	ENSP00000297405:R3555C	R	-	1	0	CSMD3	113315847	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	4.870000	0.63035	2.690000	0.91761	0.655000	0.94253	CGC	CSMD3	-	NULL		0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113246671	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	0.970	A
CST2	1470	genome.wustl.edu	37	20	23807092	23807092	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr20:23807092C>T	ENST00000304725.2	-	1	276	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	69					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TCGTAGCACCCGCAGCAGGCG	0.567																																					Pancreas(193;496 3017 22514 29918)												0													88.0	73.0	78.0					20																	23807092		2203	4300	6503	SO:0001583	missense	1470			M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"""cystatin 2"""	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.206G>A	20.37:g.23807092C>T	ENSP00000307540:p.Arg69Gln		Q9UCQ7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.R69Q	ENST00000304725.2	37	c.206	CCDS13161.1	20	.	.	.	.	.	.	.	.	.	.	C	2.765	-0.256924	0.05829	.	.	ENSG00000170369	ENST00000304725	T	0.26957	1.7	2.0	-2.58	0.06228	Proteinase inhibitor I25, cystatin (2);	0.980497	0.08360	N	0.957881	T	0.14141	0.0342	L	0.28054	0.825	0.09310	N	1	B	0.22683	0.073	B	0.24701	0.055	T	0.38993	-0.9635	10	0.12766	T	0.61	.	5.7127	0.17943	0.0:0.5276:0.0:0.4724	.	69	P09228	CYTT_HUMAN	Q	69	ENSP00000307540:R69Q	ENSP00000307540:R69Q	R	-	2	0	CST2	23755092	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.908000	0.04063	-0.799000	0.04439	0.298000	0.19748	CGG	CST2	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.567	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST2	HGNC	protein_coding	OTTHUMT00000078352.2	C			23807092	-1	no_errors	ENST00000304725	ensembl	human	known	70_37	missense	SNP	0.001	T
DNAH7	56171	genome.wustl.edu	37	2	196765060	196765060	+	Silent	SNP	G	G	A	rs556435193	byFrequency	TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:196765060G>A	ENST00000312428.6	-	28	4594	c.4494C>T	c.(4492-4494)taC>taT	p.Y1498Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1498	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCATAGTCGTAGTGATGTT	0.423													G|||	3	0.000599042	0.0	0.0	5008	,	,		18626	0.0		0.0	False		,,,				2504	0.0031																0													166.0	165.0	165.0					2																	196765060		1997	4168	6165	SO:0001819	synonymous_variant	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4494C>T	2.37:g.196765060G>A			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.Y1498	ENST00000312428.6	37	c.4494	CCDS42794.1	2																																																																																			DNAH7	-	NULL		0.423	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196765060	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	silent	SNP	0.993	A
DSP	1832	genome.wustl.edu	37	6	7572161	7572161	+	Missense_Mutation	SNP	C	C	G	rs121912995		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr6:7572161C>G	ENST00000379802.3	+	15	2331	c.1990C>G	c.(1990-1992)Caa>Gaa	p.Q664E	DSP_ENST00000418664.2_Missense_Mutation_p.Q664E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	664	Globular 1.				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)			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)		AAATGACAAGCAAGAAACATG	0.448																																																	0			GRCh37	CM020673	DSP	M	rs121912995						104.0	97.0	99.0					6																	7572161		2203	4300	6503	SO:0001583	missense	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.1990C>G	6.37:g.7572161C>G	ENSP00000369129:p.Gln664Glu		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q664E	ENST00000379802.3	37	c.1990	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079302	0.55753	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.73681	-0.45;-0.77	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000018	T	0.63438	0.2511	N	0.19112	0.55	0.44006	D	0.996719	P;B	0.49447	0.924;0.128	P;B	0.59424	0.857;0.039	T	0.61787	-0.6991	10	0.05721	T	0.95	.	19.569	0.95405	0.0:1.0:0.0:0.0	.	711;664	Q4LE79;P15924	.;DESP_HUMAN	E	664;664;469	ENSP00000369129:Q664E;ENSP00000396591:Q664E	ENSP00000369129:Q664E	Q	+	1	0	DSP	7517160	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.523000	0.53488	2.637000	0.89404	0.585000	0.79938	CAA	DSP	-	NULL		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7572161	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	1.000	G
EIF2B3	8891	genome.wustl.edu	37	1	45407182	45407182	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:45407182delT	ENST00000360403.2	-	4	576	c.450delA	c.(448-450)aaafs	p.K150fs	EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Frame_Shift_Del_p.K150fs	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	150					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|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)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCTTACCTGCTTTTTTTTTCC	0.358																																					Colon(26;357 658 2581 11857 12657)												0													147.0	137.0	141.0					1																	45407182		2203	4300	6503	SO:0001589	frameshift_variant	8891			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.450delA	1.37:g.45407182delT	ENSP00000353575:p.Lys150fs		B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Frame_Shift_Del	DEL	pfam_NTP_transferase	p.A151fs	ENST00000360403.2	37	c.450	CCDS517.1	1																																																																																			EIF2B3	-	NULL		0.358	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B3	HGNC	protein_coding	OTTHUMT00000023724.1	T	NM_020365		45407182	-1	no_errors	ENST00000360403	ensembl	human	known	70_37	frame_shift_del	DEL	0.997	-
FAM19A5	25817	genome.wustl.edu	37	22	48940508	48940508	+	Intron	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr22:48940508G>T	ENST00000402357.1	+	1	245				CTA-299D3.8_ENST00000467207.1_Intron|CTA-299D3.8_ENST00000407505.3_Missense_Mutation_p.H101N	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GTCCCTGCGTGCCCGCAGATG	0.577																																																	0																																										SO:0001627	intron_variant	0			AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.112+54992G>T	22.37:g.48940508G>T			A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	NULL	p.H101N	ENST00000402357.1	37	c.301	CCDS46728.1	22	.	.	.	.	.	.	.	.	.	.	G	0.808	-0.752894	0.03041	.	.	ENSG00000219016	ENST00000407505	.	.	.	1.82	-3.64	0.04515	.	.	.	.	.	T	0.27594	0.0678	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36237	-0.9756	5	0.87932	D	0	.	1.4987	0.02472	0.1486:0.3822:0.2733:0.1959	.	.	.	.	N	101	.	ENSP00000384340:H101N	H	-	1	0	CTA-299D3.8	47319172	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.533000	0.06157	-1.047000	0.03242	-0.325000	0.08501	CAC	CTA-299D3.8	-	NULL		0.577	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	ENSG00000219016	Clone_based_vega_gene	protein_coding	OTTHUMT00000317504.1	G	NM_015381		48940508	-1	no_errors	ENST00000407505	ensembl	human	putative	70_37	missense	SNP	0.000	T
EPHB2	2048	genome.wustl.edu	37	1	23110978	23110978	+	Missense_Mutation	SNP	C	C	T	rs372282301		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:23110978C>T	ENST00000400191.3	+	3	238	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	EPHB2_ENST00000374630.3_Missense_Mutation_p.R74W|EPHB2_ENST00000544305.1_Missense_Mutation_p.R74W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R68W|EPHB2_ENST00000374632.3_Missense_Mutation_p.R74W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	74	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAACTGGCTACGGACCAAGTT	0.587																																																	0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	77.0	68.0	71.0		220,220	5.2	1.0	1		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPHB2	NM_004442.6,NM_017449.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	74/988,74/987	23110978	1,13005	2203	4300	6503	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.220C>T	1.37:g.23110978C>T	ENSP00000383053:p.Arg74Trp		O43477|Q5T0U6|Q5T0U7|Q5T0U8	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_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R74W	ENST00000400191.3	37	c.220		1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865533	0.91511	0.0	1.16E-4	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	5.19	5.19	0.71726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	0.967;1.0;1.0;0.999	P;D;D;D	0.72338	0.614;0.977;0.977;0.921	T	0.01500	-1.1339	10	0.87932	D	0	.	17.4346	0.87548	0.0:1.0:0.0:0.0	.	74;74;92;74	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	W	74;74;74;74;74;68	ENSP00000444174:R74W;ENSP00000363761:R74W;ENSP00000383053:R74W;ENSP00000363763:R74W;ENSP00000363758:R68W	ENSP00000363755:R74W	R	+	1	2	EPHB2	22983565	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.770000	0.68873	2.704000	0.92352	0.484000	0.47621	CGG	EPHB2	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.587	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	C	NM_017449		23110978	+1	no_errors	ENST00000400191	ensembl	human	known	70_37	missense	SNP	1.000	T
FCRL3	115352	genome.wustl.edu	37	1	157665801	157665801	+	Intron	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:157665801G>A	ENST00000368184.3	-	7	1424				FCRL3_ENST00000473231.1_Intron|RP11-367J7.3_ENST00000453692.1_RNA|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)					CTTGCAACTCGAGGCTGTGTG	0.557																																																	0													61.0	57.0	58.0					1																	157665801		2203	4300	6503	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.1132+28C>T	1.37:g.157665801G>A			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	RNA	SNP	-	NULL	ENST00000368184.3	37	NULL	CCDS1167.1	1																																																																																			RP11-367J7.3	-	-		0.557	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000227217	Clone_based_vega_gene	protein_coding	OTTHUMT00000051419.2	G	NM_052939		157665801	+1	no_errors	ENST00000453692	ensembl	human	known	70_37	rna	SNP	0.000	A
CCSER2	54462	genome.wustl.edu	37	10	86131272	86131272	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:86131272G>A	ENST00000224756.8	+	2	649	c.464G>A	c.(463-465)gGc>gAc	p.G155D	CCSER2_ENST00000372088.2_Missense_Mutation_p.G155D|CCSER2_ENST00000359979.4_Missense_Mutation_p.G155D	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	155				G -> C (in Ref. 5; AAG44473). {ECO:0000305}.	microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TTCACCAAAGGCACATTATTA	0.383																																																	0													75.0	75.0	75.0					10																	86131272		2203	4300	6503	SO:0001583	missense	54462				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.464G>A	10.37:g.86131272G>A	ENSP00000224756:p.Gly155Asp		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.G155D	ENST00000224756.8	37	c.464	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427739	0.43122	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.46451	0.87;2.21;2.2	5.93	4.98	0.66077	.	0.092181	0.47455	D	0.000221	T	0.52581	0.1743	L	0.51422	1.61	0.80722	D	1	D;D;D	0.67145	0.992;0.979;0.996	P;P;D	0.66497	0.813;0.675;0.944	T	0.47249	-0.9132	10	0.44086	T	0.13	-12.4328	9.3617	0.38199	0.0841:0.1584:0.7575:0.0	.	155;155;155	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	D	155	ENSP00000353068:G155D;ENSP00000224756:G155D;ENSP00000361160:G155D	ENSP00000224756:G155D	G	+	2	0	FAM190B	86121252	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.249000	0.51437	2.802000	0.96397	0.561000	0.74099	GGC	FAM190B	-	NULL		0.383	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190B	HGNC	protein_coding	OTTHUMT00000049132.2	G	NM_018999		86131272	+1	no_errors	ENST00000372088	ensembl	human	known	70_37	missense	SNP	0.744	A
FBN2	2201	genome.wustl.edu	37	5	127686699	127686699	+	Splice_Site	SNP	T	T	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:127686699T>C	ENST00000508053.1	-	27	3649		c.e27-2		FBN2_ENST00000508989.1_Splice_Site|FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCAGGCTGTCTGAAAAGGAAC	0.453																																																	0													62.0	65.0	64.0					5																	127686699		2203	4300	6503	SO:0001630	splice_region_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2675-2A>G	5.37:g.127686699T>C			B4DU01|Q59ES6	Splice_Site	SNP	-	e21-2	ENST00000508053.1	37	c.2675-2	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002478	0.74932	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8805	0.63680	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127714598	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.779000	0.85648	2.014000	0.59158	0.460000	0.39030	.	FBN2	-	-		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	T	NM_001999	Intron	127686699	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	splice_site	SNP	1.000	C
FBXL19	54620	genome.wustl.edu	37	16	30934304	30934304	+	5'Flank	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:30934304G>A	ENST00000380310.2	+	0	0				FBXL19_ENST00000565690.1_5'Flank|FBXL19_ENST00000471231.2_5'Flank|FBXL19-AS1_ENST00000563777.1_RNA|FBXL19_ENST00000562319.1_5'Flank|FBXL19_ENST00000338343.4_5'Flank	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AACACTGGAAGGCTATAAAAC	0.507																																																	0																																										SO:0001631	upstream_gene_variant	283932			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403		16.37:g.30934304G>A	Exception_encountered		A8MT10|Q8N789|Q9NT14	RNA	SNP	-	NULL	ENST00000380310.2	37	NULL	CCDS45465.1	16																																																																																			FBXL19-AS1	-	-		0.507	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL19-AS1	HGNC	protein_coding		G	NM_019085		30934304	-1	no_errors	ENST00000563777	ensembl	human	known	70_37	rna	SNP	0.883	A
FBXO15	201456	genome.wustl.edu	37	18	71791733	71791733	+	Missense_Mutation	SNP	G	G	A	rs202162459	byFrequency	TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr18:71791733G>A	ENST00000419743.2	-	7	1065	c.986C>T	c.(985-987)tCg>tTg	p.S329L	FBXO15_ENST00000269500.5_Missense_Mutation_p.S253L	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	329						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CATAGTAGCCGAGCCTAATGT	0.348													G|||	6	0.00119808	0.0	0.0	5008	,	,		19413	0.0		0.0	False		,,,				2504	0.0061																0													136.0	132.0	133.0					18																	71791733		2203	4300	6503	SO:0001583	missense	201456			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.986C>T	18.37:g.71791733G>A	ENSP00000393154:p.Ser329Leu		B3KST3	Missense_Mutation	SNP	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.S329L	ENST00000419743.2	37	c.986	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298945	0.81025	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.63096	-0.01;-0.02	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80369	0.4610	M	0.80183	2.485	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.82934	-0.0211	10	0.72032	D	0.01	-26.454	16.4476	0.83942	0.0:0.0:1.0:0.0	.	329;253	B3KST3;Q8NCQ5	.;FBX15_HUMAN	L	253;329	ENSP00000269500:S253L;ENSP00000393154:S329L	ENSP00000269500:S253L	S	-	2	0	FBXO15	69942713	1.000000	0.71417	0.845000	0.33349	0.994000	0.84299	5.918000	0.69996	2.476000	0.83614	0.563000	0.77884	TCG	FBXO15	-	NULL		0.348	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	G	NM_152676		71791733	-1	no_errors	ENST00000419743	ensembl	human	known	70_37	missense	SNP	0.989	A
FBXO32	114907	genome.wustl.edu	37	8	124516928	124516928	+	Missense_Mutation	SNP	G	G	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:124516928G>C	ENST00000517956.1	-	8	1085	c.894C>G	c.(892-894)ttC>ttG	p.F298L	FBXO32_ENST00000443022.2_Missense_Mutation_p.F205L	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	298					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGACAAGTTTGAAATACATCT	0.418																																																	0													152.0	126.0	135.0					8																	124516928		2203	4300	6503	SO:0001583	missense	114907			AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.894C>G	8.37:g.124516928G>C	ENSP00000428205:p.Phe298Leu		A4KYM0	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.F298L	ENST00000517956.1	37	c.894	CCDS6345.1	8	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396756	0.42512	.	.	ENSG00000156804	ENST00000517956;ENST00000443022	T;T	0.22134	1.97;1.97	5.18	1.24	0.21308	F-box domain, Skp2-like (1);	0.044737	0.85682	D	0.000000	T	0.18800	0.0451	L	0.59436	1.845	0.58432	D	0.999999	B;B	0.31274	0.178;0.317	B;B	0.31245	0.108;0.126	T	0.03933	-1.0991	10	0.32370	T	0.25	-4.2142	8.74	0.34552	0.6132:0.0:0.3868:0.0	.	205;298	A4KYM0;Q969P5	.;FBX32_HUMAN	L	298;205	ENSP00000428205:F298L;ENSP00000390790:F205L	ENSP00000390790:F205L	F	-	3	2	FBXO32	124586109	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.027000	0.30115	0.073000	0.16731	-0.459000	0.05422	TTC	FBXO32	-	superfamily_F-box_dom_cyclin-like		0.418	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO32	HGNC	protein_coding	OTTHUMT00000381281.1	G			124516928	-1	no_errors	ENST00000517956	ensembl	human	known	70_37	missense	SNP	0.999	C
FLNB	2317	genome.wustl.edu	37	3	58110095	58110095	+	Missense_Mutation	SNP	A	A	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:58110095A>G	ENST00000295956.4	+	22	3926	c.3761A>G	c.(3760-3762)gAc>gGc	p.D1254G	FLNB_ENST00000358537.3_Missense_Mutation_p.D1254G|FLNB_ENST00000419752.2_Missense_Mutation_p.D1085G|FLNB_ENST00000357272.4_Missense_Mutation_p.D1254G|FLNB_ENST00000348383.5_Missense_Mutation_p.D1254G|FLNB_ENST00000429972.2_Missense_Mutation_p.D1254G|FLNB_ENST00000493452.1_Missense_Mutation_p.D1085G|FLNB_ENST00000490882.1_Missense_Mutation_p.D1254G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1254	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTTACAGTTGACTCTCGGCCG	0.567																																																	0													96.0	91.0	93.0					3																	58110095		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3761A>G	3.37:g.58110095A>G	ENSP00000295956:p.Asp1254Gly		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	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.D1254G	ENST00000295956.4	37	c.3761	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480613	0.84747	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.69	5.69	0.88448	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	M	0.94021	3.485	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;0.996;1.0;0.996;0.996	D;D;D;D;D;D	0.97110	0.998;0.999;0.999;1.0;0.999;0.999	D	0.95659	0.8713	10	0.87932	D	0	.	15.9451	0.79787	1.0:0.0:0.0:0.0	.	1254;1254;1085;1085;1254;1254	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	G	1254;1254;1254;1254;1254;1254;1085;1085	ENSP00000295956:D1254G;ENSP00000420213:D1254G;ENSP00000351339:D1254G;ENSP00000415599:D1254G;ENSP00000232447:D1254G;ENSP00000349819:D1254G;ENSP00000418510:D1085G;ENSP00000414532:D1085G	ENSP00000295956:D1254G	D	+	2	0	FLNB	58085135	1.000000	0.71417	0.488000	0.27440	0.627000	0.37826	8.962000	0.93254	2.177000	0.69029	0.533000	0.62120	GAC	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	A	NM_001457		58110095	+1	no_errors	ENST00000295956	ensembl	human	known	70_37	missense	SNP	1.000	G
FRAS1	80144	genome.wustl.edu	37	4	79462120	79462120	+	Missense_Mutation	SNP	C	C	T	rs200693022		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr4:79462120C>T	ENST00000264895.6	+	74	12321	c.11881C>T	c.(11881-11883)Cgg>Tgg	p.R3961W		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3957					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCACCCGGACCGGGTGGAGAA	0.507																																																	0								C	TRP/ARG	0,3788		0,0,1894	76.0	79.0	78.0		11881	0.6	1.0	4		78	3,8225		0,3,4111	yes	missense	FRAS1	NM_025074.6	101	0,3,6005	TT,TC,CC		0.0365,0.0,0.025	probably-damaging	3961/4013	79462120	3,12013	1894	4114	6008	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11881C>T	4.37:g.79462120C>T	ENSP00000264895:p.Arg3961Trp		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.R3961W	ENST00000264895.6	37	c.11881	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.35|13.35	2.210847|2.210847	0.39102|0.39102	0.0|0.0	3.65E-4|3.65E-4	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.51574	.|0.7	6.08|6.08	0.611|0.611	0.17586|0.17586	.|.	.|0.768149	.|0.12597	.|N	.|0.455026	T|T	0.53530|0.53530	0.1802|0.1802	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.56648	.|0.803	T|T	0.54964|0.54964	-0.8214|-0.8214	5|10	.|0.72032	.|D	.|0.01	.|.	10.3511|10.3511	0.43937|0.43937	0.4749:0.4631:0.062:0.0|0.4749:0.4631:0.062:0.0	.|.	.|3961	.|E9PHH6	.|.	L|W	2189|3961	.|ENSP00000264895:R3961W	.|ENSP00000264895:R3961W	P|R	+|+	2|1	0|2	FRAS1|FRAS1	79681144|79681144	0.999000|0.999000	0.42202|0.42202	0.975000|0.975000	0.42487|0.42487	0.009000|0.009000	0.06853|0.06853	0.885000|0.885000	0.28227|0.28227	0.165000|0.165000	0.19558|0.19558	-1.058000|-1.058000	0.02302|0.02302	CCG|CGG	FRAS1	-	NULL		0.507	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		C			79462120	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.986	T
FZD8	8325	genome.wustl.edu	37	10	35929095	35929095	+	Missense_Mutation	SNP	C	C	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:35929095C>A	ENST00000374694.1	-	1	1267	c.1263G>T	c.(1261-1263)tgG>tgT	p.W421C	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	421					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CCGCCAGGAACCATGTGAGCG	0.627																																																	0													53.0	51.0	52.0					10																	35929095		2203	4300	6503	SO:0001583	missense	8325			AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1263G>T	10.37:g.35929095C>A	ENSP00000363826:p.Trp421Cys			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.W421C	ENST00000374694.1	37	c.1263	CCDS7192.1	10	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998931	0.35226	.	.	ENSG00000177283	ENST00000374694	D	0.91464	-2.85	3.74	3.74	0.42951	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000003	D	0.96861	0.8975	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98354	1.0545	10	0.87932	D	0	.	15.6696	0.77262	0.0:1.0:0.0:0.0	.	421	Q9H461	FZD8_HUMAN	C	421	ENSP00000363826:W421C	ENSP00000363826:W421C	W	-	3	0	FZD8	35969101	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.192000	0.77771	2.067000	0.61834	0.289000	0.19496	TGG	FZD8	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled		0.627	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD8	HGNC	protein_coding	OTTHUMT00000047575.2	C	NM_031866		35929095	-1	no_errors	ENST00000374694	ensembl	human	known	70_37	missense	SNP	1.000	A
GGA2	23062	genome.wustl.edu	37	16	23486311	23486311	+	Missense_Mutation	SNP	C	C	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:23486311C>G	ENST00000309859.4	-	14	1446	c.1364G>C	c.(1363-1365)tGg>tCg	p.W455S	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	455	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GCCAGCCTCCCAGGACCAACC	0.463																																																	0													67.0	74.0	72.0					16																	23486311		2197	4300	6497	SO:0001583	missense	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1364G>C	16.37:g.23486311C>G	ENSP00000311962:p.Trp455Ser		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.W455S	ENST00000309859.4	37	c.1364	CCDS10611.1	16	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612345	0.28712	.	.	ENSG00000103365	ENST00000309859	T	0.12984	2.63	5.02	5.02	0.67125	.	0.789641	0.11960	N	0.512797	T	0.15955	0.0384	L	0.54323	1.7	0.80722	D	1	B	0.16802	0.019	B	0.20184	0.028	T	0.07139	-1.0788	10	0.14656	T	0.56	-1.4312	14.2485	0.66004	0.0:1.0:0.0:0.0	.	455	Q9UJY4	GGA2_HUMAN	S	455	ENSP00000311962:W455S	ENSP00000311962:W455S	W	-	2	0	GGA2	23393812	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.244000	0.43124	2.509000	0.84616	0.549000	0.68633	TGG	GGA2	-	NULL		0.463	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA2	HGNC	protein_coding	OTTHUMT00000214019.1	C			23486311	-1	no_errors	ENST00000309859	ensembl	human	known	70_37	missense	SNP	1.000	G
GLDC	2731	genome.wustl.edu	37	9	6535985	6535985	+	Intron	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:6535985C>T	ENST00000321612.6	-	23	2989					NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)						glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GTTGAGAGTTCGGGAGTTGCT	0.448																																																	0																																										SO:0001627	intron_variant	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2838+78G>A	9.37:g.6535985C>T			Q2M2F8	RNA	SNP	-	NULL	ENST00000321612.6	37	NULL	CCDS34987.1	9																																																																																			GLDC	-	-		0.448	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	C	NM_000170		6535985	-1	no_errors	ENST00000477960	ensembl	human	known	70_37	rna	SNP	0.187	T
GPR153	387509	genome.wustl.edu	37	1	6311456	6311456	+	Silent	SNP	G	G	C	rs373529758		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:6311456G>C	ENST00000377893.2	-	4	1180	c.921C>G	c.(919-921)ctC>ctG	p.L307L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGACAGCTTTGAGGTCAGCCC	0.657																																																	0								G		0,4406		0,0,2203	76.0	76.0	76.0		921	5.5	1.0	1		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR153	NM_207370.2		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		307/610	6311456	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.921C>G	1.37:g.6311456G>C			Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.L307	ENST00000377893.2	37	c.921	CCDS64.1	1																																																																																			GPR153	-	NULL		0.657	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6311456	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	silent	SNP	1.000	C
GPR153	387509	genome.wustl.edu	37	1	6311556	6311556	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:6311556G>A	ENST00000377893.2	-	4	1080	c.821C>T	c.(820-822)tCa>tTa	p.S274L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S274L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCAGGGCGCTGAGGCGTCGGC	0.697																																																	1	Substitution - Missense(1)	lung(1)											30.0	29.0	30.0					1																	6311556		2202	4299	6501	SO:0001583	missense	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.821C>T	1.37:g.6311556G>A	ENSP00000367125:p.Ser274Leu		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.S274L	ENST00000377893.2	37	c.821	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389266	0.82902	.	.	ENSG00000158292	ENST00000377893	T	0.70631	-0.5	5.15	5.15	0.70609	.	0.180872	0.49916	D	0.000126	T	0.60805	0.2297	N	0.24115	0.695	0.44417	D	0.997338	P	0.38223	0.623	B	0.41299	0.353	T	0.65804	-0.6079	10	0.66056	D	0.02	-13.5142	12.6439	0.56723	0.0:0.0:0.8345:0.1655	.	274	Q6NV75	GP153_HUMAN	L	274	ENSP00000367125:S274L	ENSP00000367125:S274L	S	-	2	0	GPR153	6234143	1.000000	0.71417	0.177000	0.23020	0.981000	0.71138	7.800000	0.85949	2.561000	0.86390	0.643000	0.83706	TCA	GPR153	-	pfam_GPCR_Rhodpsn		0.697	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6311556	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	missense	SNP	0.985	A
GPR153	387509	genome.wustl.edu	37	1	6314906	6314906	+	Silent	SNP	G	G	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:6314906G>C	ENST00000377893.2	-	2	319	c.60C>G	c.(58-60)ctC>ctG	p.L20L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCAGCAGGGAGAGGCCCCCAC	0.647																																																	0													40.0	45.0	43.0					1																	6314906		2203	4300	6503	SO:0001819	synonymous_variant	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.60C>G	1.37:g.6314906G>C			Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.L20	ENST00000377893.2	37	c.60	CCDS64.1	1																																																																																			GPR153	-	prints_GPCR_153/162		0.647	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	G			6314906	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	silent	SNP	1.000	C
HIST1H1T	3010	genome.wustl.edu	37	6	26107819	26107819	+	Missense_Mutation	SNP	C	C	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr6:26107819C>A	ENST00000338379.4	-	1	545	c.503G>T	c.(502-504)aGa>aTa	p.R168I		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	168					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTTAGCCTTTCTCCCGCTCCT	0.468																																																	0													138.0	130.0	133.0					6																	26107819		2203	4300	6503	SO:0001583	missense	3010			M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.503G>T	6.37:g.26107819C>A	ENSP00000341214:p.Arg168Ile		Q6ISI1|Q8IUE8	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.R168I	ENST00000338379.4	37	c.503	CCDS34349.1	6	.	.	.	.	.	.	.	.	.	.	.	18.38	3.611910	0.66558	.	.	ENSG00000187475	ENST00000338379	T	0.04551	3.6	5.08	1.05	0.20165	.	0.200872	0.41097	D	0.000959	T	0.01870	0.0059	N	0.08118	0	0.41351	D	0.987365	D	0.60575	0.988	P	0.54664	0.758	T	0.57797	-0.7749	10	0.62326	D	0.03	-42.2693	6.4209	0.21742	0.0:0.4094:0.0:0.5906	.	168	P22492	H1T_HUMAN	I	168	ENSP00000341214:R168I	ENSP00000341214:R168I	R	-	2	0	HIST1H1T	26215798	0.092000	0.21681	0.002000	0.10522	0.067000	0.16453	0.747000	0.26290	0.331000	0.23511	0.655000	0.94253	AGA	HIST1H1T	-	NULL		0.468	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1T	HGNC	protein_coding	OTTHUMT00000040093.2	C	NM_005323		26107819	-1	no_errors	ENST00000338379	ensembl	human	known	70_37	missense	SNP	0.570	A
HMGN2	3151	genome.wustl.edu	37	1	26801753	26801753	+	3'UTR	SNP	A	A	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:26801753A>T	ENST00000361427.5	+	0	481				HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2							chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TTTTTTTTTTAAAAGCTATGT	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	3151			BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.*114A>T	1.37:g.26801753A>T			Q0VGD5|Q6FGI5|Q96C64	RNA	SNP	-	NULL	ENST00000361427.5	37	NULL	CCDS283.1	1																																																																																			HMGN2	-	-		0.313	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN2	HGNC	protein_coding	OTTHUMT00000009901.1	A	NM_005517		26801753	+1	no_errors	ENST00000460563	ensembl	human	known	70_37	rna	SNP	1.000	T
HNRNPH2	3188	genome.wustl.edu	37	X	100667593	100667593	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:100667593G>A	ENST00000316594.5	+	2	695	c.617G>A	c.(616-618)cGg>cAg	p.R206Q		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	206					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GCTATGCAGCGGCCAGGTCCC	0.542																																																	0													55.0	52.0	53.0					X																	100667593		2203	4300	6503	SO:0001583	missense	3188			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.617G>A	X.37:g.100667593G>A	ENSP00000361927:p.Arg206Gln		A1L400|Q9HHA7	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.R206Q	ENST00000316594.5	37	c.617	CCDS14485.1	X	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144132	0.57044	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.13307	2.6	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.75447	2.3	0.58432	D	0.999999	B	0.21071	0.051	B	0.19391	0.025	T	0.02917	-1.1094	10	0.72032	D	0.01	-6.0111	14.5956	0.68403	0.0:0.0:1.0:0.0	.	206	P55795	HNRH2_HUMAN	Q	161;206	ENSP00000361927:R206Q	ENSP00000361927:R206Q	R	+	2	0	HNRNPH2	100554249	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.716000	0.84723	2.416000	0.81992	0.513000	0.50165	CGG	HNRNPH2	-	NULL		0.542	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH2	HGNC	protein_coding	OTTHUMT00000057556.1	G	NM_019597		100667593	+1	no_errors	ENST00000316594	ensembl	human	known	70_37	missense	SNP	1.000	A
HOXA7	3204	genome.wustl.edu	37	7	27194238	27194238	+	3'UTR	SNP	G	G	A	rs576756642	byFrequency	TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr7:27194238G>A	ENST00000242159.3	-	0	1116				HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA7_ENST00000523796.2_5'Flank|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000524304.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|RP1-170O19.23_ENST00000498652.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7						angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						TTTTGGACGCGCCAGAGCAGG	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		13943	0.0		0.0	False		,,,				2504	0.002																0																																										SO:0001624	3_prime_UTR_variant	100133311				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.*290C>T	7.37:g.27194238G>A			A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	RNA	SNP	-	NULL	ENST00000242159.3	37	NULL	CCDS5408.1	7																																																																																			HOXA-AS3	-	-		0.627	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA-AS3	HGNC	protein_coding	OTTHUMT00000358695.1	G			27194238	+1	no_errors	ENST00000518947	ensembl	human	known	70_37	rna	SNP	0.571	A
HRH1	3269	genome.wustl.edu	37	3	11301558	11301558	+	Missense_Mutation	SNP	A	A	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:11301558A>T	ENST00000397056.1	+	3	1026	c.835A>T	c.(835-837)Acc>Tcc	p.T279S	HRH1_ENST00000438284.2_Missense_Mutation_p.T279S|HRH1_ENST00000431010.2_Missense_Mutation_p.T279S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	279					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACCATCCCAAACCCCCAAGGA	0.498																																																	0													57.0	63.0	61.0					3																	11301558		2203	4300	6503	SO:0001583	missense	3269				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.835A>T	3.37:g.11301558A>T	ENSP00000380247:p.Thr279Ser		A8K047|Q6P9E5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt	p.T279S	ENST00000397056.1	37	c.835	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.450369	0.01080	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.65549	-0.16;-0.16;-0.16	5.97	1.66	0.24008	GPCR, rhodopsin-like superfamily (1);	0.697162	0.15161	N	0.277172	T	0.25005	0.0607	N	0.01668	-0.77	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22765	-1.0207	10	0.08381	T	0.77	-3.9938	3.7847	0.08695	0.2152:0.0996:0.5475:0.1378	.	279	P35367	HRH1_HUMAN	S	279	ENSP00000406705:T279S;ENSP00000397028:T279S;ENSP00000380247:T279S	ENSP00000380247:T279S	T	+	1	0	HRH1	11276558	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.008000	0.13197	0.384000	0.24942	-0.248000	0.11899	ACC	HRH1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2	A			11301558	+1	no_errors	ENST00000397056	ensembl	human	known	70_37	missense	SNP	0.000	T
HSD17B7	51478	genome.wustl.edu	37	1	162766467	162766467	+	Splice_Site	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:162766467G>T	ENST00000254521.3	+	3	387	c.332G>T	c.(331-333)aGa>aTa	p.R111I	HSD17B7_ENST00000367917.3_Splice_Site_p.R111I|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367913.1_Splice_Site_p.S111I	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	111					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					CTCTTTTCAAGGTAATTTTCG	0.378																																																	0													125.0	103.0	110.0					1																	162766467		2203	4300	6503	SO:0001630	splice_region_variant	51478			AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.332+1G>T	1.37:g.162766467G>T			Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.R111I	ENST00000254521.3	37	c.332	CCDS1242.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.95|17.95	3.513739|3.513739	0.64522|0.64522	.|.	.|.	ENSG00000132196|ENSG00000132196	ENST00000367917;ENST00000254521|ENST00000367913	D;T|T	0.86497|0.78364	-2.13;-1.14|-1.17	4.79|4.79	4.79|4.79	0.61399|0.61399	NAD(P)-binding domain (1);|.	0.139173|.	0.64402|.	D|.	0.000004|.	T|T	0.68467|0.68467	0.3004|0.3004	L|L	0.32530|0.32530	0.975|0.975	0.80722|.	D|.	1.000000|.	D|.	0.54964|.	0.969|.	P|.	0.54706|.	0.759|.	T|T	0.68569|0.68569	-0.5374|-0.5374	9|5	0.72032|.	D|.	0.01|.	-42.5216|-42.5216	16.8254|16.8254	0.85929|0.85929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	111|.	P56937|.	DHB7_HUMAN|.	I|I	111|111	ENSP00000356894:R111I;ENSP00000254521:R111I|ENSP00000356889:S111I	ENSP00000254521:R111I|.	R|S	+|+	2|2	0|0	HSD17B7|HSD17B7	161033091|161033091	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	9.092000|9.092000	0.94157|0.94157	2.351000|2.351000	0.79841|0.79841	0.644000|0.644000	0.83932|0.83932	AGA|AGC	HSD17B7	-	NULL		0.378	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B7	HGNC	protein_coding	OTTHUMT00000083207.1	G	NM_016371	Missense_Mutation	162766467	+1	no_errors	ENST00000254521	ensembl	human	known	70_37	missense	SNP	1.000	T
IGHV1OR21-1	390530	genome.wustl.edu	37	21	10862953	10862953	+	RNA	SNP	C	C	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr21:10862953C>G	ENST00000559480.1	+	0	249							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CACAGAAGTTCCAGGCCAGAG	0.532																																																	0													320.0	313.0	315.0					21																	10862953		2184	4279	6463			390530					21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862953C>G				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F83L	ENST00000559480.1	37	c.249		21																																																																																			IGHV1OR21-1	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like		0.532	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IGHV1OR21-1	HGNC	IG_V_gene		C	NG_011680		10862953	+1	no_errors	ENST00000559480	ensembl	human	known	70_37	missense	SNP	0.034	G
IL9R	3581	genome.wustl.edu	37	X	155235748	155235748	+	Splice_Site	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:155235748G>A	ENST00000244174.5	+	7	961	c.782G>A	c.(781-783)gGc>gAc	p.G261D	IL9R_ENST00000424344.3_Splice_Site_p.G240D|IL9R_ENST00000540897.1_Splice_Site_p.G286D|IL9R_ENST00000369423.2_Splice_Site_p.G296D	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	261					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGTCCACAGGCCCTCTGATC	0.637																																																	0													51.0	46.0	48.0					X																	155235748		2203	4296	6499	SO:0001630	splice_region_variant	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.782-1G>A	X.37:g.155235748G>A			B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.G261D	ENST00000244174.5	37	c.782	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	.	10.99	1.507358	0.27036	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.23950	2.94;2.95;1.88;1.89	1.57	1.57	0.23409	.	0.425024	0.18001	N	0.154888	T	0.40979	0.1139	.	.	.	0.09310	N	1	P;P;D	0.89917	0.933;0.759;1.0	P;B;D	0.91635	0.557;0.256;0.999	T	0.05146	-1.0903	8	.	.	.	.	6.0853	0.19964	0.0:0.0:1.0:0.0	.	240;261;296	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	D	261;240;240;296;286	ENSP00000244174:G261D;ENSP00000388918:G240D;ENSP00000358431:G296D;ENSP00000438112:G286D	.	G	+	2	0	IL9R	154888942	0.002000	0.14202	0.005000	0.12908	0.079000	0.17450	0.560000	0.23500	1.086000	0.41228	0.287000	0.19450	GGC	IL9R	-	NULL		0.637	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	G	NM_002186	Missense_Mutation	155235748	+1	no_errors	ENST00000244174	ensembl	human	known	70_37	missense	SNP	0.004	A
INTS7	25896	genome.wustl.edu	37	1	212180086	212180086	+	Silent	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:212180086C>T	ENST00000366994.3	-	7	878	c.774G>A	c.(772-774)caG>caA	p.Q258Q	INTS7_ENST00000440600.2_Silent_p.Q209Q|INTS7_ENST00000366992.3_Silent_p.Q258Q|INTS7_ENST00000366993.3_Silent_p.Q258Q|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	258					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.Q258Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TCTTCAAATACTGCAACAGAA	0.338																																																	1	Substitution - coding silent(1)	lung(1)											120.0	123.0	122.0					1																	212180086		2203	4300	6503	SO:0001819	synonymous_variant	25896			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.774G>A	1.37:g.212180086C>T			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	superfamily_ARM-type_fold	p.Q258	ENST00000366994.3	37	c.774	CCDS1501.1	1																																																																																			INTS7	-	superfamily_ARM-type_fold		0.338	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	C	NM_015434		212180086	-1	no_errors	ENST00000366994	ensembl	human	known	70_37	silent	SNP	1.000	T
ISLR2	57611	genome.wustl.edu	37	15	74426565	74426565	+	Silent	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:74426565G>A	ENST00000361742.3	+	4	2239	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	ISLR2_ENST00000565540.1_Silent_p.A490A|ISLR2_ENST00000435464.1_Silent_p.A490A|ISLR2_ENST00000453268.2_Silent_p.A490A|ISLR2_ENST00000419208.1_Silent_p.A490A|ISLR2_ENST00000565159.1_Silent_p.A490A|ISLR2_ENST00000445793.1_Silent_p.A490A|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	490					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCGTCATCGCGCTGGATGTGG	0.726																																																	0													17.0	16.0	17.0					15																	74426565		2189	4294	6483	SO:0001819	synonymous_variant	57611				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1470G>A	15.37:g.74426565G>A			A8K352|Q9P263	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like	p.A490	ENST00000361742.3	37	c.1470	CCDS10259.1	15																																																																																			ISLR2	-	NULL		0.726	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	G	NM_020851		74426565	+1	no_errors	ENST00000361742	ensembl	human	known	70_37	silent	SNP	0.994	A
ITIH5	80760	genome.wustl.edu	37	10	7608295	7608295	+	Missense_Mutation	SNP	C	C	T	rs560482680		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:7608295C>T	ENST00000256861.6	-	13	2303	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.R528H|ITIH5_ENST00000446830.2_Missense_Mutation_p.R524H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	742					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGTGATAGTGCGCAAGTAAGT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20508	0.0		0.0	False		,,,				2504	0.001																0													114.0	97.0	103.0					10																	7608295		2203	4300	6503	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2225G>A	10.37:g.7608295C>T	ENSP00000256861:p.Arg742His		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R742H	ENST00000256861.6	37	c.2225		10	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287897	0.40494	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.12039	2.72;2.72;2.72	5.84	3.02	0.34903	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.297109	0.45126	N	0.000385	T	0.12817	0.0311	.	.	.	0.80722	D	1	B;B	0.24186	0.099;0.047	B;B	0.22601	0.04;0.024	T	0.05115	-1.0905	9	0.52906	T	0.07	-6.0799	11.4283	0.50025	0.0:0.7639:0.0:0.2361	.	742;528	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	H	742;528;524	ENSP00000256861:R742H;ENSP00000298441:R528H;ENSP00000387969:R524H	ENSP00000256861:R742H	R	-	2	0	ITIH5	7648301	1.000000	0.71417	0.992000	0.48379	0.722000	0.41435	1.762000	0.38451	0.386000	0.24997	0.655000	0.94253	CGC	ITIH5	-	pfam_ITI_HC_C		0.532	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	C	NM_030569		7608295	-1	no_errors	ENST00000256861	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNMA1	3778	genome.wustl.edu	37	10	79397289	79397289	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:79397289C>T	ENST00000286628.8	-	1	111	c.112G>A	c.(112-114)Gcg>Acg	p.A38T	KCNMA1_ENST00000481070.1_Missense_Mutation_p.A38T|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A38T|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A38T|KCNMA1_ENST00000286627.5_Missense_Mutation_p.A38T|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A38T|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A38T|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A38T|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A38T|KCNMA1_ENST00000480683.1_Missense_Mutation_p.A38T	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	38				A -> V (in Ref. 1; AAA85104). {ECO:0000305}.	blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	gaggaggaCGCGTCTAGGCTG	0.637																																																	0													20.0	17.0	18.0					10																	79397289		2200	4296	6496	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.112G>A	10.37:g.79397289C>T	ENSP00000286628:p.Ala38Thr		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.A38T	ENST00000286628.8	37	c.112		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.063871|3.063871	0.55432|0.55432	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000457953;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857|ENST00000372421	D;D;D;D;D;D;D|.	0.84944|.	-1.89;-1.83;-1.89;-1.89;-1.9;-1.9;-1.92|.	3.54|3.54	3.54|3.54	0.40534|0.40534	.|.	48.678300|.	0.00166|.	N|.	0.000000|.	T|T	0.19644|0.19644	0.0472|0.0472	N|N	0.08118|0.08118	0|0	0.25098|0.25098	N|N	0.9908|0.9908	P;D;B;B;P;B;B|.	0.71674|.	0.956;0.998;0.009;0.056;0.907;0.016;0.009|.	B;P;B;B;B;B;B|.	0.54210|.	0.218;0.745;0.003;0.054;0.169;0.007;0.003|.	T|T	0.15321|0.15321	-1.0441|-1.0441	10|5	0.66056|.	D|.	0.02|.	-0.5558|-0.5558	9.1609|9.1609	0.37021|0.37021	0.2357:0.7643:0.0:0.0|0.2357:0.7643:0.0:0.0	.|.	38;38;38;38;38;38;38|.	D5MRH1;Q12791-6;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.	.;.;.;.;KCMA1_HUMAN;.;.|.	T|H	38;12;38;38;12;38;38;38|26	ENSP00000361517:A38T;ENSP00000396608:A12T;ENSP00000361520:A38T;ENSP00000286627:A38T;ENSP00000385552:A38T;ENSP00000346321:A38T;ENSP00000385806:A38T|.	ENSP00000286627:A38T|.	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	79067295|79067295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.359000|2.359000	0.44142|0.44142	1.915000|1.915000	0.55452|0.55452	0.455000|0.455000	0.32223|0.32223	GCG|CGC	KCNMA1	-	NULL		0.637	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	C	NM_002247		79397289	-1	no_errors	ENST00000406533	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA0430	9665	genome.wustl.edu	37	16	15696500	15696501	+	Intron	INS	-	-	G	rs117939294		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:15696500_15696501insG	ENST00000396368.3	-	23	4620				KIAA0430_ENST00000344181.3_Frame_Shift_Ins_p.S1107fs|KIAA0430_ENST00000551742.1_Intron|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Intron|KIAA0430_ENST00000602337.1_Intron|KIAA0430_ENST00000547936.1_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430						double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ggaagaggagaaagaaAAGGAG	0.426																																																	0																																										SO:0001627	intron_variant	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4414-440->C	16.37:g.15696500_15696501insG			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Ins	INS	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.S1106fs	ENST00000396368.3	37	c.3319_3318	CCDS10562.2	16																																																																																			KIAA0430	-	NULL		0.426	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	-	NM_014647		15696501	-1	no_errors	ENST00000344181	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	G
KIAA1551	55196	genome.wustl.edu	37	12	32140176	32140176	+	Nonsense_Mutation	SNP	C	C	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr12:32140176C>G	ENST00000312561.4	+	5	5420	c.5006C>G	c.(5005-5007)tCa>tGa	p.S1669*	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1669																	TAAATAGTTTCAGGAATAAAA	0.289																																																	0													45.0	47.0	46.0					12																	32140176		2201	4294	6495	SO:0001587	stop_gained	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5006C>G	12.37:g.32140176C>G	ENSP00000310338:p.Ser1669*		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	NULL	p.S1669*	ENST00000312561.4	37	c.5006	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	C	48	14.880174	0.99814	.	.	ENSG00000174718	ENST00000312561	.	.	.	4.86	4.86	0.63082	.	0.295993	0.24447	N	0.038456	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.5624	0.45152	0.0:0.901:0.0:0.0989	.	.	.	.	X	1669	.	ENSP00000310338:S1669X	S	+	2	0	C12orf35	32031443	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.267000	0.33050	2.383000	0.81215	0.462000	0.41574	TCA	KIAA1551	-	NULL		0.289	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	C	NM_018169		32140176	+1	no_errors	ENST00000312561	ensembl	human	known	70_37	nonsense	SNP	1.000	G
LCT	3938	genome.wustl.edu	37	2	136575262	136575262	+	Missense_Mutation	SNP	C	C	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:136575262C>A	ENST00000264162.2	-	6	1366	c.1356G>T	c.(1354-1356)aaG>aaT	p.K452N	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	452	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGATGGAGAACTTGTACACCT	0.627																																																	0													64.0	60.0	61.0					2																	136575262		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1356G>T	2.37:g.136575262C>A	ENSP00000264162:p.Lys452Asn		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.K452N	ENST00000264162.2	37	c.1356	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	c	18.93	3.726876	0.69074	.	.	ENSG00000115850	ENST00000264162	T	0.54479	0.57	5.77	0.299	0.15771	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.159421	0.56097	D	0.000025	T	0.64193	0.2576	M	0.76574	2.34	0.41351	D	0.987362	D	0.64830	0.994	D	0.65140	0.932	T	0.62378	-0.6867	10	0.72032	D	0.01	-14.3799	7.4499	0.27231	0.0:0.493:0.1049:0.4021	.	452	P09848	LPH_HUMAN	N	452	ENSP00000264162:K452N	ENSP00000264162:K452N	K	-	3	2	LCT	136291732	0.116000	0.22171	0.993000	0.49108	0.974000	0.67602	-0.383000	0.07398	-0.157000	0.11059	-0.119000	0.15052	AAG	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.627	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	C	NM_002299		136575262	-1	no_errors	ENST00000264162	ensembl	human	known	70_37	missense	SNP	0.998	A
LETM2	137994	genome.wustl.edu	37	8	38250390	38250390	+	Missense_Mutation	SNP	C	C	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:38250390C>G	ENST00000379957.4	+	3	505	c.378C>G	c.(376-378)atC>atG	p.I126M	LETM2_ENST00000524874.1_Missense_Mutation_p.I126M|LETM2_ENST00000519476.2_Missense_Mutation_p.I126M|LETM2_ENST00000523983.2_Missense_Mutation_p.I79M|LETM2_ENST00000297720.5_Missense_Mutation_p.I79M	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	126	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GACAAAAAATCATGGATGAAC	0.418																																																	0													60.0	61.0	61.0					8																	38250390		2203	4300	6503	SO:0001583	missense	137994			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.378C>G	8.37:g.38250390C>G	ENSP00000369291:p.Ile126Met		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	pfam_LETM1	p.I126M	ENST00000379957.4	37	c.378		8	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456601	0.26161	.	.	ENSG00000165046	ENST00000519476;ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000526356	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.75	-3.79	0.04320	LETM1-like (1);	0.067575	0.64402	D	0.000003	T	0.54581	0.1867	M	0.83223	2.63	0.33951	D	0.644429	P;P;D	0.54397	0.939;0.835;0.966	P;B;P	0.57204	0.758;0.342;0.815	T	0.61888	-0.6970	10	0.87932	D	0	.	4.4821	0.11773	0.0924:0.2291:0.0927:0.5858	.	126;126;126	Q2VYF4;E9PMA4;A8K1M9	LETM2_HUMAN;.;.	M	126;79;126;126;79;126	ENSP00000429269:I126M;ENSP00000297720:I79M;ENSP00000431211:I126M;ENSP00000369291:I126M;ENSP00000428765:I79M	ENSP00000297720:I79M	I	+	3	3	LETM2	38369547	0.000000	0.05858	0.011000	0.14972	0.186000	0.23388	-0.935000	0.03950	-0.315000	0.08703	-0.302000	0.09304	ATC	LETM2	-	pfam_LETM1		0.418	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	LETM2	HGNC	protein_coding	OTTHUMT00000381816.1	C	NM_144652		38250390	+1	no_errors	ENST00000379957	ensembl	human	known	70_37	missense	SNP	0.005	G
SMIM17	147670	genome.wustl.edu	37	19	57166487	57166487	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:57166487C>T	ENST00000598409.1	+	4	429	c.263C>T	c.(262-264)tCa>tTa	p.S88L	SMIM17_ENST00000600547.1_Silent_p.V62V	NM_001193628.1	NP_001180557.1	P0DL12	SIM17_HUMAN	small integral membrane protein 17	88						integral component of membrane (GO:0016021)											gtggagtggtcaaaagctcca	0.388																																																	0																																										SO:0001583	missense	147670			AK095199	CCDS58683.1	19q13.43	2013-06-21			ENSG00000268182	ENSG00000268182			27114	protein-coding gene	gene with protein product							Standard	NM_001193628		Approved		uc021vch.1	P0DL12	OTTHUMG00000177861	ENST00000598409.1:c.263C>T	19.37:g.57166487C>T	ENSP00000471126:p.Ser88Leu			Missense_Mutation	SNP	NULL	p.S88L	ENST00000598409.1	37	c.263	CCDS58683.1	19																																																																																			AC007228.1	-	NULL		0.388	SMIM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC147670	Clone_based_vega_gene	protein_coding	OTTHUMT00000439277.1	C	NM_001193628		57166487	+1	no_errors	ENST00000598409	ensembl	human	known	70_37	missense	SNP	0.921	T
LRP2	4036	genome.wustl.edu	37	2	170060692	170060692	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:170060692C>T	ENST00000263816.3	-	42	8090	c.7805G>A	c.(7804-7806)gGc>gAc	p.G2602D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2602					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AATATACTGGCCATAGAGAGT	0.453																																																	0													153.0	163.0	160.0					2																	170060692		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7805G>A	2.37:g.170060692C>T	ENSP00000263816:p.Gly2602Asp		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G2602D	ENST00000263816.3	37	c.7805	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	8.652	0.898577	0.17686	.	.	ENSG00000081479	ENST00000263816	D	0.90732	-2.72	5.78	2.48	0.30137	Six-bladed beta-propeller, TolB-like (1);	0.239125	0.43579	N	0.000559	T	0.78336	0.4267	N	0.17901	0.54	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.64097	-0.6487	10	0.10636	T	0.68	.	5.5548	0.17111	0.0:0.3792:0.0:0.6208	.	2602	P98164	LRP2_HUMAN	D	2602	ENSP00000263816:G2602D	ENSP00000263816:G2602D	G	-	2	0	LRP2	169768938	0.950000	0.32346	0.963000	0.40424	0.931000	0.56810	0.445000	0.21677	0.717000	0.32145	0.655000	0.94253	GGC	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170060692	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.999	T
LRRC31	79782	genome.wustl.edu	37	3	169571431	169571431	+	Intron	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:169571431G>A	ENST00000316428.5	-	6	1049				LRRC31_ENST00000264676.5_Intron|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Intron	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31											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)			AATGCTCCACGCAAAGCTCAA	0.388																																																	0																																										SO:0001627	intron_variant	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.991+1169C>T	3.37:g.169571431G>A			B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	RNA	SNP	-	NULL	ENST00000316428.5	37	NULL	CCDS43167.1	3																																																																																			LRRC31	-	-		0.388	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	G	NM_024727		169571431	-1	no_errors	ENST00000397805	ensembl	human	known	70_37	rna	SNP	0.000	A
LRRC37A3	374819	genome.wustl.edu	37	17	62856867	62856867	+	Missense_Mutation	SNP	C	C	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:62856867C>G	ENST00000584306.1	-	11	3927	c.3397G>C	c.(3397-3399)Gat>Cat	p.D1133H	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D110H|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D251H|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1133H|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D171H	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1133						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GATTTCACATCTAGGTTAACG	0.438																																																	0													206.0	205.0	205.0					17																	62856867		2203	4300	6503	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3397G>C	17.37:g.62856867C>G	ENSP00000464535:p.Asp1133His		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D1133H	ENST00000584306.1	37	c.3397	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	12.78	2.041453	0.35989	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.46819	0.86;0.86;0.86	2.07	1.06	0.20224	.	.	.	.	.	T	0.59376	0.2189	M	0.71036	2.16	0.09310	N	1	B;D	0.61080	0.246;0.989	B;D	0.67103	0.274;0.949	T	0.45056	-0.9287	9	0.87932	D	0	.	3.9307	0.09283	0.0:0.7714:0.0:0.2286	.	251;1133	B4DG20;O60309	.;L37A3_HUMAN	H	214;171;110;1133	ENSP00000383674:D171H;ENSP00000335617:D110H;ENSP00000325713:D1133H	ENSP00000325713:D1133H	D	-	1	0	LRRC37A3	60287329	0.002000	0.14202	0.111000	0.21465	0.054000	0.15201	0.871000	0.28023	1.152000	0.42452	0.184000	0.17185	GAT	LRRC37A3	-	NULL		0.438	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	C	NM_199340		62856867	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.034	G
LRRC4B	94030	genome.wustl.edu	37	19	51020885	51020885	+	Missense_Mutation	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:51020885G>T	ENST00000599957.1	-	3	2282	c.2085C>A	c.(2083-2085)caC>caA	p.H695Q	ASPDH_ENST00000597030.1_5'Flank|ASPDH_ENST00000376916.3_5'Flank|LRRC4B_ENST00000389201.3_Missense_Mutation_p.H695Q			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	695					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCAGAGGTTCGTGGATGGAGT	0.697																																																	0													26.0	30.0	29.0					19																	51020885		1909	4117	6026	SO:0001583	missense	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.2085C>A	19.37:g.51020885G>T	ENSP00000471502:p.His695Gln		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.H695Q	ENST00000599957.1	37	c.2085	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336726	0.24253	.	.	ENSG00000131409	ENST00000389201	T	0.28454	1.61	2.61	2.61	0.31194	.	0.183723	0.31177	U	0.008104	T	0.19565	0.0470	L	0.29908	0.895	0.32885	D	0.511057	B	0.27380	0.177	B	0.15870	0.014	T	0.22730	-1.0208	10	0.36615	T	0.2	.	10.9607	0.47383	0.0:0.0:1.0:0.0	.	695	Q9NT99	LRC4B_HUMAN	Q	695	ENSP00000373853:H695Q	ENSP00000373853:H695Q	H	-	3	2	LRRC4B	55712697	0.969000	0.33509	0.999000	0.59377	0.948000	0.59901	0.090000	0.15025	1.465000	0.48006	0.455000	0.32223	CAC	LRRC4B	-	NULL		0.697	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	G	NM_001080457		51020885	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC4C	57689	genome.wustl.edu	37	11	40136562	40136562	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr11:40136562C>T	ENST00000278198.2	-	2	3244	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	LRRC4C_ENST00000527150.1_Missense_Mutation_p.M427I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.M427I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M427I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	427	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AATTACTCACCATACATGTGT	0.443																																																	0													191.0	168.0	176.0					11																	40136562		2203	4300	6503	SO:0001583	missense	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1281G>A	11.37:g.40136562C>T	ENSP00000278198:p.Met427Ile		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.M427I	ENST00000278198.2	37	c.1281	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	C	9.337	1.062034	0.19987	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.039097	0.85682	D	0.000000	T	0.32912	0.0845	N	0.02876	-0.465	0.49687	D	0.999813	B	0.02656	0.0	B	0.04013	0.001	T	0.36114	-0.9761	10	0.02654	T	1	.	12.5783	0.56375	0.0:0.9249:0.0:0.0751	.	427	Q9HCJ2	LRC4C_HUMAN	I	427	ENSP00000278198:M427I;ENSP00000436976:M427I;ENSP00000437132:M427I;ENSP00000434761:M427I	ENSP00000278198:M427I	M	-	3	0	LRRC4C	40093138	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.790000	0.55461	2.802000	0.96397	0.655000	0.94253	ATG	LRRC4C	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	C	NM_020929		40136562	-1	no_errors	ENST00000527150	ensembl	human	known	70_37	missense	SNP	1.000	T
MAGEC3	139081	genome.wustl.edu	37	X	140985330	140985330	+	Intron	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:140985330C>T	ENST00000298296.1	+	7	1728				MAGEC3_ENST00000409007.1_Missense_Mutation_p.H298Y|MAGEC3_ENST00000536088.1_Missense_Mutation_p.H298Y|MAGEC3_ENST00000443323.2_Missense_Mutation_p.H218Y|MAGEC3_ENST00000544766.1_Missense_Mutation_p.H298Y	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCACTATACATTGGGTGCA	0.532																																																	0													72.0	72.0	72.0					X																	140985330		2203	4300	6503	SO:0001627	intron_variant	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1728+58C>T	X.37:g.140985330C>T			Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.H298Y	ENST00000298296.1	37	c.892	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	c	7.377	0.627920	0.14257	.	.	ENSG00000165509	ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	1.25	-1.2	0.09554	.	.	.	.	.	T	0.04815	0.0130	N	0.17474	0.49	0.09310	N	1	B	0.27117	0.168	B	0.43103	0.408	T	0.53143	-0.8480	8	.	.	.	.	6.4628	0.21966	0.0:0.6118:0.3882:0.0	.	298	Q3SYA7	.	Y	298;218;298;298	ENSP00000441107:H298Y;ENSP00000438254:H218Y;ENSP00000440444:H298Y;ENSP00000386566:H298Y	.	H	+	1	0	MAGEC3	140812996	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.213000	0.09305	-0.488000	0.06726	-0.792000	0.03331	CAT	MAGEC3	-	pfam_MAGE,pfscan_MAGE		0.532	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140985330	+1	no_errors	ENST00000536088	ensembl	human	known	70_37	missense	SNP	0.000	T
MED13	9969	genome.wustl.edu	37	17	60107314	60107314	+	Missense_Mutation	SNP	G	G	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:60107314G>C	ENST00000397786.2	-	7	1146	c.1070C>G	c.(1069-1071)tCc>tGc	p.S357C	MED13_ENST00000580896.1_5'Flank	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	357					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGTACTATCGGAGTTGAAGCC	0.403																																																	0													103.0	92.0	96.0					17																	60107314		1840	4095	5935	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1070C>G	17.37:g.60107314G>C	ENSP00000380888:p.Ser357Cys		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.S357C	ENST00000397786.2	37	c.1070	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194262	0.38806	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.78595	-1.19	5.46	5.46	0.80206	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.265483	0.39544	N	0.001334	T	0.80237	0.4586	L	0.50333	1.59	0.39343	D	0.965611	B	0.30793	0.295	B	0.41299	0.353	T	0.79640	-0.1719	10	0.51188	T	0.08	-2.7633	19.3043	0.94155	0.0:0.0:1.0:0.0	.	357	Q9UHV7	MED13_HUMAN	C	357;356	ENSP00000380888:S357C	ENSP00000262436:S356C	S	-	2	0	MED13	57462096	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.066000	0.71185	2.551000	0.86045	0.462000	0.41574	TCC	MED13	-	pfam_Mediator_Med13_N_met/fun		0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	G	NM_005121		60107314	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	C
MEG3	55384	genome.wustl.edu	37	14	101297350	101297350	+	5'Flank	SNP	C	C	T	rs539761580		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr14:101297350C>T	ENST00000596284.1	-	0	0																											CCTTAATGTTCAGGACGAATA	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		17905	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001631	upstream_gene_variant	55384																															14.37:g.101297350C>T	Exception_encountered			RNA	SNP	-	NULL	ENST00000596284.1	37	NULL		14																																																																																			MEG3	-	-		0.458	AL117190.2-201	NOVEL	basic|appris_principal	protein_coding	MEG3	HGNC	protein_coding		C			101297350	+1	no_errors	ENST00000398474	ensembl	human	known	70_37	rna	SNP	0.000	T
ALDH4A1	8659	genome.wustl.edu	37	1	19209751	19209751	+	Intron	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:19209751G>A	ENST00000375341.3	-	6	861				MIR4695_ENST00000577305.1_RNA|ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000454547.1_Intron|ALDH4A1_ENST00000538839.1_Intron|ALDH4A1_ENST00000538309.1_Intron|RP13-279N23.2_ENST00000494072.3_Intron	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1						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)			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)		CCGCCTGCTCGCCCACTGCCT	0.662																																																	0													38.0	38.0	38.0					1																	19209751		2203	4299	6502	SO:0001627	intron_variant	100616120			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.603+21C>T	1.37:g.19209751G>A			A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	RNA	SNP	-	NULL	ENST00000375341.3	37	NULL	CCDS188.1	1																																																																																			MIR4695	-	-		0.662	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR4695	HGNC	protein_coding	OTTHUMT00000006954.1	G			19209751	-1	no_errors	ENST00000577305	ensembl	human	known	70_37	rna	SNP	0.000	A
MS4A2	2206	genome.wustl.edu	37	11	59860966	59860966	+	Missense_Mutation	SNP	T	T	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr11:59860966T>C	ENST00000278888.3	+	5	574	c.472T>C	c.(472-474)Tat>Cat	p.Y158H		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	158					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAGCTTGGCCTATATCCACAT	0.443																																																	0													168.0	156.0	160.0					11																	59860966		2201	4295	6496	SO:0001583	missense	2206			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.472T>C	11.37:g.59860966T>C	ENSP00000278888:p.Tyr158His		Q54A81	Missense_Mutation	SNP	pfam_CD20-like	p.Y158H	ENST00000278888.3	37	c.472	CCDS7980.1	11	.	.	.	.	.	.	.	.	.	.	T	14.46	2.541732	0.45280	.	.	ENSG00000149534	ENST00000278888	T	0.02552	4.25	4.33	4.33	0.51752	.	1.373590	0.04460	N	0.374129	T	0.14960	0.0361	M	0.71036	2.16	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.70487	0.969;0.969	T	0.14896	-1.0456	10	0.49607	T	0.09	-4.0113	10.1812	0.42968	0.0:0.0:0.0:1.0	.	88;158	Q14298;Q01362	.;FCERB_HUMAN	H	158	ENSP00000278888:Y158H	ENSP00000278888:Y158H	Y	+	1	0	MS4A2	59617542	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	0.580000	0.23803	2.179000	0.69175	0.528000	0.53228	TAT	MS4A2	-	pfam_CD20-like		0.443	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A2	HGNC	protein_coding	OTTHUMT00000393844.1	T			59860966	+1	no_errors	ENST00000278888	ensembl	human	known	70_37	missense	SNP	0.007	C
MT-ND5	4540	genome.wustl.edu	37	M	13466	13466	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrM:13466G>A	ENST00000361567.2	+	1	1130	c.1130G>A	c.(1129-1131)aGc>aAc	p.S377N	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	377					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CACCATTGGCAGCCTAGCATT	0.448																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1130G>A	M.37:g.13466G>A	ENSP00000354813:p.Ser377Asn		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.S377N	ENST00000361567.2	37	c.1130		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5		0.448	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		13466	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	A
MUSK	4593	genome.wustl.edu	37	9	113550063	113550063	+	Silent	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:113550063G>A	ENST00000374448.4	+	14	2006	c.1872G>A	c.(1870-1872)caG>caA	p.Q624Q	MUSK_ENST00000416899.2_Silent_p.Q616Q|MUSK_ENST00000189978.5_Silent_p.Q624Q|MUSK_ENST00000374438.1_Silent_p.Q140Q	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	624	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CGGACTTTCAGAGGGAGGCAG	0.448																																																	0													57.0	54.0	55.0					9																	113550063		1875	4113	5988	SO:0001819	synonymous_variant	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1872G>A	9.37:g.113550063G>A			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q630	ENST00000374448.4	37	c.1890	CCDS48005.1	9																																																																																			MUSK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.448	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		G			113550063	+1	no_errors	ENST00000189978	ensembl	human	known	70_37	silent	SNP	1.000	A
MUSK	4593	genome.wustl.edu	37	9	113550161	113550161	+	Intron	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:113550161G>A	ENST00000374448.4	+	14	2061				MUSK_ENST00000416899.2_Intron|MUSK_ENST00000189978.5_Intron|MUSK_ENST00000374438.1_Missense_Mutation_p.R173K	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase						cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCAGAAAACAGAGGCTTTCCA	0.408																																																	0													19.0	18.0	18.0					9																	113550161		1850	4093	5943	SO:0001627	intron_variant	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1927+43G>A	9.37:g.113550161G>A			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.R173K	ENST00000374448.4	37	c.518	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	G	8.759	0.923185	0.18056	.	.	ENSG00000030304	ENST00000374441;ENST00000374438	T	0.80909	-1.43	5.1	2.22	0.28083	.	.	.	.	.	T	0.70789	0.3264	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.57934	-0.7725	5	.	.	.	.	5.0114	0.14315	0.192:0.1937:0.6144:0.0	.	.	.	.	K	173	ENSP00000363561:R173K	.	R	+	2	0	MUSK	112589982	0.042000	0.20092	0.001000	0.08648	0.344000	0.29017	1.120000	0.31271	0.392000	0.25172	0.655000	0.94253	AGA	MUSK	-	pfscan_Prot_kinase_cat_dom		0.408	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		G			113550161	+1	no_errors	ENST00000374438	ensembl	human	known	70_37	missense	SNP	0.001	A
MYH3	4621	genome.wustl.edu	37	17	10535838	10535838	+	Silent	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:10535838C>T	ENST00000583535.1	-	34	4998	c.4911G>A	c.(4909-4911)gcG>gcA	p.A1637A	MYH3_ENST00000226209.7_Silent_p.A1637A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1637			A -> V (in DA2B; dbSNP:rs34165480). {ECO:0000269|PubMed:16642020}.		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)			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						GGGTCTCCGCCGCCTGGCGGT	0.567																																																	0													127.0	126.0	126.0					17																	10535838		2203	4300	6503	SO:0001819	synonymous_variant	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.4911G>A	17.37:g.10535838C>T			Q15492	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1637	ENST00000583535.1	37	c.4911	CCDS11157.1	17																																																																																			MYH3	-	pfam_Myosin_tail		0.567	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	C	NM_002470		10535838	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	silent	SNP	0.000	T
NBEA	26960	genome.wustl.edu	37	13	35926395	35926395	+	Silent	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr13:35926395G>A	ENST00000400445.3	+	38	6648	c.6114G>A	c.(6112-6114)caG>caA	p.Q2038Q	NBEA_ENST00000379939.2_Silent_p.Q2035Q|NBEA_ENST00000540320.1_Silent_p.Q2038Q|NBEA_ENST00000310336.4_Silent_p.Q2038Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2038					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGCAAATCAGCTGAAACAGA	0.373																																																	0													74.0	72.0	73.0					13																	35926395		1911	4116	6027	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6114G>A	13.37:g.35926395G>A			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.Q2038	ENST00000400445.3	37	c.6114	CCDS45026.1	13																																																																																			NBEA	-	pfam_DUF1088		0.373	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		G	NM_015678		35926395	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	silent	SNP	1.000	A
NBPF4	148545	genome.wustl.edu	37	1	108766233	108766233	+	3'UTR	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:108766233G>A	ENST00000415641.3	-	0	2214					NM_001143989.2	NP_001137461.1	Q96M43	NBPF4_HUMAN	neuroblastoma breakpoint family, member 4							cytoplasm (GO:0005737)				endometrium(2)|lung(1)|skin(1)	4						AATCCTCAGTGAAGGACCCCT	0.398																																																	0																																										SO:0001624	3_prime_UTR_variant	148545			AK057395	CCDS44182.1	1p13.3	2013-01-17			ENSG00000196427	ENSG00000196427		"""neuroblastoma breakpoint family"""	26550	protein-coding gene	gene with protein product		613994				16079250	Standard	NM_001143989		Approved	FLJ32833	uc009weo.2	Q96M43	OTTHUMG00000011318	ENST00000415641.3:c.*94C>T	1.37:g.108766233G>A			Q5T483	RNA	SNP	-	NULL	ENST00000415641.3	37	NULL	CCDS44182.1	1																																																																																			NBPF4	-	-		0.398	NBPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF4	HGNC	protein_coding	OTTHUMT00000031255.5	G	NM_152488		108766233	-1	no_errors	ENST00000487594	ensembl	human	known	70_37	rna	SNP	0.001	A
NCAPG2	54892	genome.wustl.edu	37	7	158476039	158476039	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr7:158476039C>T	ENST00000409423.1	-	10	1049	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	NCAPG2_ENST00000356309.3_Missense_Mutation_p.G293R|NCAPG2_ENST00000449727.2_Missense_Mutation_p.G293R|NCAPG2_ENST00000275830.10_Missense_Mutation_p.G85R|NCAPG2_ENST00000409339.3_Missense_Mutation_p.G293R	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	293					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.G293W(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGGTGTATCCCGTGGAACATG	0.428																																																	1	Substitution - Missense(1)	lung(1)											168.0	164.0	165.0					7																	158476039		1909	4129	6038	SO:0001583	missense	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.877G>A	7.37:g.158476039C>T	ENSP00000386569:p.Gly293Arg		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.G293R	ENST00000409423.1	37	c.877	CCDS43686.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235208	0.79800	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.5	5.5	0.81552	Armadillo-type fold (1);	0.051078	0.85682	D	0.000000	T	0.62950	0.2470	L	0.54323	1.7	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.63413	-0.6643	10	0.72032	D	0.01	-28.145	19.7664	0.96346	0.0:1.0:0.0:0.0	.	293;85;293	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	R	293;293;85;293;293	ENSP00000348657:G293R;ENSP00000386569:G293R;ENSP00000275830:G85R;ENSP00000387007:G293R;ENSP00000388326:G293R	ENSP00000275830:G85R	G	-	1	0	NCAPG2	158168800	1.000000	0.71417	0.859000	0.33776	0.433000	0.31745	6.776000	0.75023	2.735000	0.93741	0.655000	0.94253	GGG	NCAPG2	-	pfam_Condensin2_G2,superfamily_ARM-type_fold		0.428	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	HGNC	protein_coding	OTTHUMT00000327111.1	C	NM_017760		158476039	-1	no_errors	ENST00000409339	ensembl	human	known	70_37	missense	SNP	0.998	T
NCKAP5	344148	genome.wustl.edu	37	2	133540060	133540060	+	Missense_Mutation	SNP	T	T	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:133540060T>C	ENST00000409261.1	-	14	4697	c.4324A>G	c.(4324-4326)Aca>Gca	p.T1442A	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1442A|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1442										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGCTTGGATGTACTGCTTGTT	0.557																																																	0													50.0	50.0	50.0					2																	133540060		1935	4130	6065	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4324A>G	2.37:g.133540060T>C	ENSP00000387128:p.Thr1442Ala		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.T1442A	ENST00000409261.1	37	c.4324	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	T	4.156	0.027486	0.08054	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09538	2.97;2.97	5.5	0.396	0.16309	.	0.659621	0.12450	U	0.467865	T	0.04003	0.0112	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.43327	-0.9398	10	0.08179	T	0.78	.	0.6064	0.00753	0.2013:0.2709:0.1386:0.3892	.	1442	O14513	NCKP5_HUMAN	A	1442	ENSP00000387128:T1442A;ENSP00000380603:T1442A	ENSP00000380603:T1442A	T	-	1	0	NCKAP5	133256530	0.000000	0.05858	0.547000	0.28179	0.557000	0.35523	0.204000	0.17335	0.153000	0.19213	0.533000	0.62120	ACA	NCKAP5	-	NULL		0.557	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	T	NM_207481		133540060	-1	no_errors	ENST00000317721	ensembl	human	known	70_37	missense	SNP	0.000	C
NFATC3	4775	genome.wustl.edu	37	16	68160513	68160513	+	Splice_Site	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:68160513G>T	ENST00000346183.3	+	3	1425	c.1401G>T	c.(1399-1401)aaG>aaT	p.K467N	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Splice_Site_p.K467N|NFATC3_ENST00000329524.4_Splice_Site_p.K467N|NFATC3_ENST00000349223.5_Splice_Site_p.K467N	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	467	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				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)			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)		CTGTTGTGAAGGTATGAGACT	0.423																																																	0													70.0	68.0	69.0					16																	68160513		2198	4300	6498	SO:0001630	splice_region_variant	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.1401+1G>T	16.37:g.68160513G>T			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.K467N	ENST00000346183.3	37	c.1401	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.232410	0.95207	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.51574	0.7;0.7;0.7	5.6	5.6	0.85130	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.184583	0.56097	D	0.000022	T	0.70211	0.3198	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.997;0.997	T	0.72418	-0.4300	10	0.87932	D	0	-7.7848	19.6153	0.95632	0.0:0.0:1.0:0.0	.	467;467;467;467	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	N	467	ENSP00000264008:K467N;ENSP00000300659:K467N;ENSP00000331324:K467N	ENSP00000331324:K467N	K	+	3	2	NFATC3	66718014	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.705000	0.98719	2.630000	0.89119	0.555000	0.69702	AAG	NFATC3	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NFAT		0.423	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	G	NM_004555	Missense_Mutation	68160513	+1	no_errors	ENST00000346183	ensembl	human	known	70_37	missense	SNP	1.000	T
NLRP11	204801	genome.wustl.edu	37	19	56320318	56320318	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:56320318C>T	ENST00000589093.1	-	3	1751	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	NLRP11_ENST00000360133.3_Missense_Mutation_p.R553Q|NLRP11_ENST00000443188.1_Missense_Mutation_p.R553Q|NLRP11_ENST00000589824.2_Missense_Mutation_p.R553Q|NLRP11_ENST00000592953.1_Missense_Mutation_p.R454Q			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	553							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.R553L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTCTTCTTCCCGATTCTCATA	0.428																																																	1	Substitution - Missense(1)	lung(1)											142.0	131.0	135.0					19																	56320318		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1658G>A	19.37:g.56320318C>T	ENSP00000466285:p.Arg553Gln		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R553Q	ENST00000589093.1	37	c.1658	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.883459	0.00532	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.50813	0.73;0.73	2.2	-1.39	0.08997	.	.	.	.	.	T	0.14013	0.0339	N	0.02539	-0.55	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.04013	0.001;0.001	T	0.23868	-1.0176	9	0.02654	T	1	.	2.1758	0.03862	0.2379:0.3105:0.0:0.4516	.	553;553	P59045;P59045-2	NAL11_HUMAN;.	Q	553	ENSP00000409898:R553Q;ENSP00000353251:R553Q	ENSP00000353251:R553Q	R	-	2	0	NLRP11	61012130	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.567000	0.23608	-0.455000	0.07054	-2.290000	0.00267	CGG	NLRP11	-	NULL		0.428	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	C	NM_145007		56320318	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	missense	SNP	0.001	T
NME6	10201	genome.wustl.edu	37	3	48335898	48335898	+	3'UTR	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:48335898C>T	ENST00000452211.1	-	0	1027				NME6_ENST00000426689.2_3'UTR|NME6_ENST00000426723.1_3'UTR|NME6_ENST00000450160.1_3'UTR|NME6_ENST00000421967.1_3'UTR|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000415644.1_3'UTR			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6						apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GAACAGTTCTCAGCAAAGAGG	0.527																																																	0																																										SO:0001624	3_prime_UTR_variant	10201			AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"""non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"""			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.*229G>A	3.37:g.48335898C>T			B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	RNA	SNP	-	NULL	ENST00000452211.1	37	NULL		3																																																																																			NME6	-	-		0.527	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	NME6	HGNC	protein_coding	OTTHUMT00000346107.1	C	NM_005793		48335898	-1	no_errors	ENST00000444069	ensembl	human	known	70_37	rna	SNP	0.003	T
NRARP	441478	genome.wustl.edu	37	9	140196226	140196226	+	Missense_Mutation	SNP	T	T	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:140196226T>G	ENST00000356628.2	-	1	477	c.155A>C	c.(154-156)cAg>cCg	p.Q52P		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	52					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CAGCGCCGTCTGGCCCTCGGG	0.652																																																	0													48.0	38.0	41.0					9																	140196226		2202	4298	6500	SO:0001583	missense	441478				CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"""Ankyrin repeat domain containing"""	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.155A>C	9.37:g.140196226T>G	ENSP00000349041:p.Gln52Pro		B8A4K5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q52P	ENST00000356628.2	37	c.155	CCDS35188.1	9	.	.	.	.	.	.	.	.	.	.	T	14.45	2.537870	0.45176	.	.	ENSG00000198435	ENST00000356628	T	0.65178	-0.14	3.57	1.01	0.19927	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.51958	0.1705	L	0.59912	1.85	0.47245	D	0.999361	B	0.17465	0.022	B	0.18263	0.021	T	0.37478	-0.9704	10	0.36615	T	0.2	.	7.0038	0.24826	0.3638:0.0:0.0:0.6361	.	52	Q7Z6K4	NRARP_HUMAN	P	52	ENSP00000349041:Q52P	ENSP00000349041:Q52P	Q	-	2	0	NRARP	139316047	1.000000	0.71417	0.982000	0.44146	0.312000	0.27988	2.018000	0.40991	0.018000	0.15052	-0.553000	0.04205	CAG	NRARP	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.652	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRARP	HGNC	protein_coding	OTTHUMT00000343196.1	T	NM_001004354		140196226	-1	no_errors	ENST00000356628	ensembl	human	known	70_37	missense	SNP	1.000	G
NUDT7	283927	genome.wustl.edu	37	16	77775505	77775505	+	Silent	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:77775505G>T	ENST00000268533.5	+	4	444	c.375G>T	c.(373-375)gtG>gtT	p.V125V	NUDT7_ENST00000437314.3_Silent_p.V72V|NUDT7_ENST00000564085.1_Missense_Mutation_p.G157W|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	125	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CTCCATTTGTGGGTTTAATAG	0.418																																																	0													66.0	63.0	64.0					16																	77775505		1892	4098	5990	SO:0001819	synonymous_variant	283927			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.375G>T	16.37:g.77775505G>T			B4DLE5|H3BUB8	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.G157W	ENST00000268533.5	37	c.469	CCDS42195.1	16																																																																																			NUDT7	-	NULL		0.418	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	HGNC	protein_coding	OTTHUMT00000433873.1	G			77775505	+1	no_errors	ENST00000564085	ensembl	human	putative	70_37	missense	SNP	0.997	T
NXF2	56001	genome.wustl.edu	37	X	101572376	101572376	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chrX:101572376C>T	ENST00000372758.1	+	9	1124	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	NXF2_ENST00000395088.2_Missense_Mutation_p.H92Y|NXF2_ENST00000372757.1_Missense_Mutation_p.H92Y|NXF2_ENST00000372763.1_Missense_Mutation_p.H4Y|NXF2_ENST00000330252.5_Missense_Mutation_p.H92Y			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	92					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|lung(2)	4						AATGAAATGGCATAGTGAAGA	0.433																																																	0													33.0	30.0	31.0					X																	101572376		1910	3574	5484	SO:0001583	missense	56001			AJ277526	CCDS14497.1	Xq22.1	2011-05-25			ENSG00000185554				8072	protein-coding gene	gene with protein product	"""cancer/testis antigen 39"", ""TAP like protein 2"""	300315				11073998, 11279525	Standard	NM_022053		Approved	CT39, TAPL-2	uc004eix.4	Q9GZY0		ENST00000372758.1:c.274C>T	X.37:g.101572376C>T	ENSP00000361844:p.His92Tyr		Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.H92Y	ENST00000372758.1	37	c.274	CCDS14497.1	X	.	.	.	.	.	.	.	.	.	.	C	6.421	0.445747	0.12164	.	.	ENSG00000185554	ENST00000395088;ENST00000330252;ENST00000372763;ENST00000372758;ENST00000372757	T;T;T;T;T	0.44881	0.93;0.93;0.91;0.93;0.93	1.94	-1.28	0.09318	.	2.125170	0.03203	U	0.175109	T	0.38081	0.1027	L	0.57536	1.79	0.09310	N	1	B;B	0.24533	0.017;0.105	B;B	0.24701	0.006;0.055	T	0.25222	-1.0138	10	0.59425	D	0.04	-0.6638	2.7213	0.05201	0.0:0.3819:0.2534:0.3648	.	4;92	Q5JRM6;Q9GZY0	.;NXF2_HUMAN	Y	92;92;4;92;92	ENSP00000378523:H92Y;ENSP00000331471:H92Y;ENSP00000361849:H4Y;ENSP00000361844:H92Y;ENSP00000361843:H92Y	ENSP00000331471:H92Y	H	+	1	0	NXF2	101459032	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.250000	0.08830	-0.524000	0.06400	0.181000	0.17075	CAT	NXF2	-	NULL		0.433	NXF2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2	HGNC	protein_coding	OTTHUMT00000057618.1	C	NM_017809		101572376	+1	no_errors	ENST00000330252	ensembl	human	known	70_37	missense	SNP	0.000	T
OR2T34	127068	genome.wustl.edu	37	1	248737420	248737420	+	Silent	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:248737420G>T	ENST00000328782.2	-	1	660	c.639C>A	c.(637-639)ctC>ctA	p.L213L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			TGATGGGGGTGAGAAGCATGA	0.552																																																	0													195.0	210.0	205.0					1																	248737420		2113	4300	6413	SO:0001819	synonymous_variant	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.639C>A	1.37:g.248737420G>T			B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L213	ENST00000328782.2	37	c.639	CCDS31120.1	1																																																																																			OR2T34	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.552	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1	G	NM_001001821		248737420	-1	no_errors	ENST00000328782	ensembl	human	known	70_37	silent	SNP	0.001	T
OTUD7A	161725	genome.wustl.edu	37	15	31795972	31795972	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:31795972C>T	ENST00000307050.4	-	7	1014	c.922G>A	c.(922-924)Gtt>Att	p.V308I	OTUD7A_ENST00000382902.1_Missense_Mutation_p.V315I	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	308	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		AGGACAAAAACGTGGAACTCT	0.478																																																	0													170.0	158.0	162.0					15																	31795972		2202	4300	6502	SO:0001583	missense	161725			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.922G>A	15.37:g.31795972C>T	ENSP00000305926:p.Val308Ile		Q8IWK5	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.V315I	ENST00000307050.4	37	c.943	CCDS10026.1	15	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215030	0.79352	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.23754	1.89;1.89	4.67	4.67	0.58626	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	L	0.39692	1.235	0.51482	D	0.999926	D;D	0.76494	0.999;0.999	D;D	0.79784	0.987;0.993	T	0.44112	-0.9349	10	0.87932	D	0	-16.4071	17.9624	0.89090	0.0:1.0:0.0:0.0	.	315;308	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	I	308;315	ENSP00000305926:V308I;ENSP00000372358:V315I	ENSP00000305926:V308I	V	-	1	0	OTUD7A	29583264	1.000000	0.71417	0.431000	0.26735	0.931000	0.56810	7.052000	0.76634	2.284000	0.76573	0.655000	0.94253	GTT	OTUD7A	-	pfam_OTU,pfscan_OTU		0.478	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	C	NM_130901		31795972	-1	no_errors	ENST00000382902	ensembl	human	known	70_37	missense	SNP	1.000	T
OR4F6	390648	genome.wustl.edu	37	15	102346506	102346506	+	Missense_Mutation	SNP	T	T	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:102346506T>G	ENST00000328882.4	+	1	605	c.584T>G	c.(583-585)tTg>tGg	p.L195W		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ACCTACACATTGGGATTCATG	0.353																																																	0													166.0	163.0	164.0					15																	102346506		2203	4299	6502	SO:0001583	missense	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.584T>G	15.37:g.102346506T>G	ENSP00000327525:p.Leu195Trp		B9EH28|Q6IF95	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L195W	ENST00000328882.4	37	c.584	CCDS32341.1	15	.	.	.	.	.	.	.	.	.	.	.	9.053	0.992545	0.18966	.	.	ENSG00000184140	ENST00000328882	T	0.00137	8.68	4.78	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.168629	0.27773	N	0.017912	T	0.00552	0.0018	M	0.92169	3.28	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20806	-1.0264	10	0.87932	D	0	.	10.103	0.42517	0.0:0.0:0.3223:0.6777	.	195	Q8NGB9	OR4F6_HUMAN	W	195	ENSP00000327525:L195W	ENSP00000327525:L195W	L	+	2	0	OR4F6	100164029	0.002000	0.14202	0.004000	0.12327	0.015000	0.08874	1.335000	0.33839	0.359000	0.24239	0.482000	0.46254	TTG	OR4F6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.353	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F6	HGNC	protein_coding	OTTHUMT00000417593.1	T			102346506	+1	no_errors	ENST00000328882	ensembl	human	known	70_37	missense	SNP	0.003	G
PAIP2B	400961	genome.wustl.edu	37	2	71417103	71417103	+	Missense_Mutation	SNP	C	C	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:71417103C>G	ENST00000244221.8	-	3	353	c.187G>C	c.(187-189)Gag>Cag	p.E63Q		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	63					negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)	translation repressor activity, nucleic acid binding (GO:0000900)			large_intestine(1)|lung(1)	2						TCCAGCATCTCTTGGAAGCAG	0.522																																																	0													60.0	57.0	58.0					2																	71417103		1977	4177	6154	SO:0001583	missense	400961				CCDS46322.1	2p13.3	2007-07-16			ENSG00000124374	ENSG00000124374			29200	protein-coding gene	gene with protein product		611018				16804161	Standard	NM_020459		Approved	KIAA1155	uc002shu.2	Q9ULR5	OTTHUMG00000153284	ENST00000244221.8:c.187G>C	2.37:g.71417103C>G	ENSP00000244221:p.Glu63Gln			Missense_Mutation	SNP	pfam_Ataxin-2_C	p.E63Q	ENST00000244221.8	37	c.187	CCDS46322.1	2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796229	0.90453	.	.	ENSG00000124374	ENST00000244221	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.75560	-0.3275	9	0.39692	T	0.17	-20.5855	17.2281	0.86977	0.0:1.0:0.0:0.0	.	63	Q9ULR5	PAI2B_HUMAN	Q	63	.	ENSP00000244221:E63Q	E	-	1	0	PAIP2B	71270611	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.150000	0.77403	2.660000	0.90430	0.467000	0.42956	GAG	PAIP2B	-	NULL		0.522	PAIP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAIP2B	HGNC	protein_coding	OTTHUMT00000330547.2	C	XM_376062		71417103	-1	no_errors	ENST00000244221	ensembl	human	known	70_37	missense	SNP	1.000	G
PALM	5064	genome.wustl.edu	37	19	727657	727657	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:727657G>A	ENST00000338448.5	+	4	278	c.232G>A	c.(232-234)Gag>Aag	p.E78K	PALM_ENST00000264560.7_Missense_Mutation_p.E78K	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	78					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		GCAGGACGACGAGCAGAAGAC	0.716																																																	0													37.0	39.0	38.0					19																	727657		2173	4281	6454	SO:0001583	missense	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.232G>A	19.37:g.727657G>A	ENSP00000341911:p.Glu78Lys		O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	pfam_Paralemmin	p.E78K	ENST00000338448.5	37	c.232	CCDS32857.1	19	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090205	0.55968	.	.	ENSG00000099864	ENST00000338448;ENST00000264560	T;T	0.32515	1.45;1.45	3.64	2.56	0.30785	.	0.438115	0.25019	N	0.033766	T	0.53254	0.1785	M	0.81802	2.56	0.41833	D	0.990087	D;D;D	0.76494	0.999;0.999;0.995	P;D;D	0.67548	0.889;0.952;0.933	T	0.58584	-0.7611	10	0.72032	D	0.01	-16.4346	11.7304	0.51732	0.0:0.1808:0.8192:0.0	.	78;78;78	B7Z649;O75781-2;O75781	.;.;PALM_HUMAN	K	78	ENSP00000341911:E78K;ENSP00000264560:E78K	ENSP00000264560:E78K	E	+	1	0	PALM	678657	0.998000	0.40836	0.984000	0.44739	0.243000	0.25628	2.738000	0.47401	0.628000	0.30357	-0.479000	0.04858	GAG	PALM	-	pfam_Paralemmin		0.716	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	HGNC	protein_coding	OTTHUMT00000457592.1	G	NM_002579		727657	+1	no_errors	ENST00000338448	ensembl	human	known	70_37	missense	SNP	0.999	A
PARP1	142	genome.wustl.edu	37	1	226549886	226549886	+	Intron	DEL	T	T	-	rs368063214		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:226549886delT	ENST00000366794.5	-	22	2992				PARP1_ENST00000490921.1_Intron	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1						base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GTGGTCtttcttttttttttt	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0																																										SO:0001627	intron_variant	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2849-102A>-	1.37:g.226549886delT			B1ANJ4|Q8IUZ9	RNA	DEL	-	NULL	ENST00000366794.5	37	NULL	CCDS1554.1	1																																																																																			PARP1	-	-		0.468	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	T	NM_001618		226549886	-1	no_errors	ENST00000491816	ensembl	human	known	70_37	rna	DEL	0.004	-
PCDHB18	54660	genome.wustl.edu	37	5	140616083	140616083	+	RNA	SNP	T	T	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:140616083T>A	ENST00000526308.1	+	0	2146					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCCTCCGCGCTCGGCCACCGC	0.711																																																	0																																												54660			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616083T>A			B3KTF8	RNA	SNP	-	NULL	ENST00000526308.1	37	NULL		5																																																																																			PCDHB18	-	-		0.711	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	HGNC	pseudogene	OTTHUMT00000394776.1	T			140616083	+1	no_errors	ENST00000526308	ensembl	human	known	70_37	rna	SNP	0.935	A
PDILT	204474	genome.wustl.edu	37	16	20396079	20396079	+	Silent	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr16:20396079G>T	ENST00000302451.4	-	3	545	c.297C>A	c.(295-297)ggC>ggA	p.G99G	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	99					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTCCACTTTGCCAAAGCCGA	0.512																																																	0													302.0	295.0	297.0					16																	20396079		2203	4300	6503	SO:0001819	synonymous_variant	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.297C>A	16.37:g.20396079G>T			Q8IVQ5	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.G99	ENST00000302451.4	37	c.297	CCDS10584.1	16																																																																																			PDILT	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.512	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	G	NM_174924		20396079	-1	no_errors	ENST00000302451	ensembl	human	known	70_37	silent	SNP	1.000	T
PIGO	84720	genome.wustl.edu	37	9	35091686	35091686	+	Missense_Mutation	SNP	C	C	T	rs373305585	byFrequency	TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:35091686C>T	ENST00000378617.3	-	7	2592	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.R733Q|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	733					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GACCAGGACCCGGAGACGGGG	0.657													C|||	23	0.00459265	0.0	0.0	5008	,	,		15357	0.0		0.0	False		,,,				2504	0.0235																0													24.0	29.0	27.0					9																	35091686		2171	4243	6414	SO:0001583	missense	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2198G>A	9.37:g.35091686C>T	ENSP00000367880:p.Arg733Gln		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R733Q	ENST00000378617.3	37	c.2198	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	C	5.074	0.199237	0.09652	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.54279	0.58;0.58	5.44	2.46	0.29980	.	0.289379	0.35262	N	0.003322	T	0.25195	0.0612	N	0.08118	0	0.80722	D	1	B	0.18968	0.032	B	0.15484	0.013	T	0.04930	-1.0917	10	0.10377	T	0.69	-9.1839	7.4379	0.27166	0.0:0.6477:0.0:0.3523	.	733	Q8TEQ8	PIGO_HUMAN	Q	733	ENSP00000367880:R733Q;ENSP00000339382:R733Q	ENSP00000339382:R733Q	R	-	2	0	PIGO	35081686	0.688000	0.27680	1.000000	0.80357	0.358000	0.29455	0.618000	0.24373	0.881000	0.35993	-0.794000	0.03295	CGG	PIGO	-	NULL		0.657	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	C	NM_032634		35091686	-1	no_errors	ENST00000341666	ensembl	human	known	70_37	missense	SNP	1.000	T
PHF2	5253	genome.wustl.edu	37	9	96398778	96398778	+	Silent	SNP	C	C	T	rs368398809		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:96398778C>T	ENST00000359246.4	+	3	637	c.270C>T	c.(268-270)atC>atT	p.I90I	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	90					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGCTCTTCATCAAGGAGCTGC	0.632																																																	0													36.0	35.0	35.0					9																	96398778		2201	4295	6496	SO:0001819	synonymous_variant	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.270C>T	9.37:g.96398778C>T			Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.I90	ENST00000359246.4	37	c.270	CCDS35069.1	9																																																																																			PHF2	-	NULL		0.632	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	C	NM_005392		96398778	+1	no_errors	ENST00000359246	ensembl	human	known	70_37	silent	SNP	1.000	T
POLR2A	5430	genome.wustl.edu	37	17	7406444	7406444	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:7406444C>T	ENST00000322644.6	+	17	3160	c.2761C>T	c.(2761-2763)Cgc>Tgc	p.R921C		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	921					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)|regulation of transcription, DNA-templated (GO:0006355)|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)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TTCCAGGTTCCGCTTTGATTA	0.582																																																	0													40.0	41.0	40.0					17																	7406444		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2761C>T	17.37:g.7406444C>T	ENSP00000314949:p.Arg921Cys		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.R921C	ENST00000322644.6	37	c.2761	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052300	0.75960	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68479	-0.33	5.65	5.65	0.86999	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.201651	0.44688	D	0.000429	T	0.73140	0.3549	M	0.90542	3.125	0.80722	D	1	B	0.25743	0.133	B	0.28139	0.086	T	0.74788	-0.3546	10	0.87932	D	0	-10.7464	12.3589	0.55192	0.2677:0.7323:0.0:0.0	.	921	P24928	RPB1_HUMAN	C	877;921	ENSP00000314949:R921C	ENSP00000314949:R921C	R	+	1	0	SLC35G6	7347168	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.863000	0.56016	2.826000	0.97356	0.563000	0.77884	CGC	POLR2A	-	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6		0.582	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	C	NM_000937		7406444	+1	no_errors	ENST00000322644	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEKHH3	79990	genome.wustl.edu	37	17	40823016	40823016	+	Missense_Mutation	SNP	C	C	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:40823016C>G	ENST00000591022.1	-	9	1804	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	PLEKHH3_ENST00000293349.6_Intron|PLEKHH3_ENST00000456950.2_Intron|PLEKHH3_ENST00000412503.1_Intron	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	473	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ATTTACTTCTCAAACCTGGTG	0.637																																																	0													54.0	63.0	60.0					17																	40823016		2123	4235	6358	SO:0001583	missense	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1417G>C	17.37:g.40823016C>G	ENSP00000468678:p.Glu473Gln		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.E473Q	ENST00000591022.1	37	c.1417	CCDS11434.1	17	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169487	0.78452	.	.	ENSG00000068137	ENST00000293349	.	.	.	5.16	5.16	0.70880	Band 4.1 domain (1);FERM domain (1);	0.000000	0.47093	D	0.000244	T	0.77922	0.4203	M	0.66297	2.02	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.80037	-0.1550	9	0.66056	D	0.02	.	18.2783	0.90091	0.0:1.0:0.0:0.0	.	473	Q7Z736	PKHH3_HUMAN	Q	473	.	ENSP00000293349:E473Q	E	-	1	0	PLEKHH3	38076542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.055000	0.57441	2.420000	0.82092	0.561000	0.74099	GAG	PLEKHH3	-	smart_Band_41_domain,pfscan_FERM_domain		0.637	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	C	NM_024927		40823016	-1	no_errors	ENST00000591022	ensembl	human	known	70_37	missense	SNP	1.000	G
PRDM2	7799	genome.wustl.edu	37	1	14105137	14105139	+	In_Frame_Del	DEL	GAT	GAT	-	rs2076324|rs369010172	byFrequency	TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	GAT	GAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:14105137_14105139delGAT	ENST00000235372.7	+	8	1703_1705	c.847_849delGAT	c.(847-849)gatdel	p.D287del	PRDM2_ENST00000311066.5_In_Frame_Del_p.D287del|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_In_Frame_Del_p.D86del|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_In_Frame_Del_p.D86del	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	287	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		agaagaagaagatgatgatgatg	0.488																																																	0																																										SO:0001651	inframe_deletion	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.847_849delGAT	1.37:g.14105146_14105148delGAT	ENSP00000235372:p.Asp287del		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	In_Frame_Del	DEL	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.D286in_frame_del	ENST00000235372.7	37	c.847_849	CCDS150.1	1																																																																																			PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot		0.488	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	GAT	NM_012231		14105139	+1	no_errors	ENST00000235372	ensembl	human	known	70_37	in_frame_del	DEL	0.967:0.959:0.929	-
PRKDC	5591	genome.wustl.edu	37	8	48766714	48766714	+	Missense_Mutation	SNP	G	G	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:48766714G>C	ENST00000314191.2	-	52	6876	c.6820C>G	c.(6820-6822)Caa>Gaa	p.Q2274E	PRKDC_ENST00000338368.3_Missense_Mutation_p.Q2274E|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2275					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCTAGCAATTGAATCCCTACT	0.413								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													114.0	109.0	110.0					8																	48766714		1912	4135	6047	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6820C>G	8.37:g.48766714G>C	ENSP00000313420:p.Gln2274Glu		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q2274E	ENST00000314191.2	37	c.6820		8	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438401	0.83885	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.63913	-0.07;-0.07	5.05	5.05	0.67936	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.81029	0.4738	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.68765	0.96;0.909	D	0.84563	0.0651	10	0.72032	D	0.01	.	17.3796	0.87401	0.0:0.0:1.0:0.0	.	2274;2275	E7EUY0;P78527	.;PRKDC_HUMAN	E	2274	ENSP00000313420:Q2274E;ENSP00000345182:Q2274E	ENSP00000313420:Q2274E	Q	-	1	0	PRKDC	48929267	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	9.301000	0.96167	2.342000	0.79632	0.650000	0.86243	CAA	PRKDC	-	superfamily_ARM-type_fold		0.413	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48766714	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C
PRSS35	167681	genome.wustl.edu	37	6	84234251	84234251	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr6:84234251G>A	ENST00000369700.3	+	2	1268	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	PRSS35_ENST00000536636.1_Missense_Mutation_p.R364H	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	364	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AATTGGAAGCGCAAAATCATT	0.517																																																	0													79.0	75.0	76.0					6																	84234251		2203	4300	6503	SO:0001583	missense	167681			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1091G>A	6.37:g.84234251G>A	ENSP00000358714:p.Arg364His		A8K7B3|Q9BQP6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.R364H	ENST00000369700.3	37	c.1091	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.311807	0.95655	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.42513	0.97;0.97	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67405	-0.5679	10	0.87932	D	0	-24.5883	20.2946	0.98546	0.0:0.0:1.0:0.0	.	364	Q8N3Z0	PRS35_HUMAN	H	364	ENSP00000440870:R364H;ENSP00000358714:R364H	ENSP00000358714:R364H	R	+	2	0	PRSS35	84290970	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.476000	0.97823	2.804000	0.96469	0.462000	0.41574	CGC	PRSS35	-	superfamily_Pept_cys/ser_Trypsin-like		0.517	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	G	NM_153362		84234251	+1	no_errors	ENST00000369700	ensembl	human	known	70_37	missense	SNP	1.000	A
PTGDR	5729	genome.wustl.edu	37	14	52734971	52734971	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr14:52734971C>T	ENST00000306051.2	+	1	541	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	PTGDR_ENST00000553372.1_Missense_Mutation_p.R147C	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	147					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.R147C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CATCACCCTGCGCCTGGGCGC	0.637																																																	1	Substitution - Missense(1)	endometrium(1)											79.0	81.0	81.0					14																	52734971		2203	4300	6503	SO:0001583	missense	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.439C>T	14.37:g.52734971C>T	ENSP00000303424:p.Arg147Cys		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.R147C	ENST00000306051.2	37	c.439	CCDS9707.1	14	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107130	0.56291	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.43294	0.95;0.95	4.71	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000143	T	0.59810	0.2221	M	0.70595	2.14	0.46631	D	0.99913	D	0.89917	1.0	D	0.76071	0.987	T	0.62709	-0.6797	10	0.87932	D	0	-24.6357	9.6486	0.39883	0.1594:0.6865:0.154:0.0	.	147	Q13258	PD2R_HUMAN	C	147	ENSP00000303424:R147C;ENSP00000452408:R147C	ENSP00000303424:R147C	R	+	1	0	PTGDR	51804721	0.021000	0.18746	0.861000	0.33841	0.652000	0.38707	1.905000	0.39878	1.281000	0.44480	0.563000	0.77884	CGC	PTGDR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.637	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	C	NM_000953		52734971	+1	no_errors	ENST00000306051	ensembl	human	known	70_37	missense	SNP	0.919	T
PTOV1	53635	genome.wustl.edu	37	19	50363362	50363362	+	Silent	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:50363362C>T	ENST00000601675.1	+	11	1265	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	PTOV1_ENST00000601638.1_Silent_p.V355V|PTOV1_ENST00000600603.1_Missense_Mutation_p.S332L|AC018766.5_ENST00000601893.1_RNA|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000599732.1_Silent_p.V387V|PTOV1_ENST00000391842.1_Silent_p.V387V|PTOV1_ENST00000221557.9_Missense_Mutation_p.S332L|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000598325.1_3'UTR			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	387	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		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;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCAACTTTGTCAACGGCATCC	0.577																																																	0													77.0	59.0	65.0					19																	50363362		2203	4300	6503	SO:0001819	synonymous_variant	53635			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.1161C>T	19.37:g.50363362C>T			Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	pfam_Mediator_Med25	p.S332L	ENST00000601675.1	37	c.995	CCDS12782.1	19	.	.	.	.	.	.	.	.	.	.	c	23.1	4.380282	0.82682	.	.	ENSG00000104960	ENST00000221557	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	T	0.75191	0.3816	.	.	.	0.80722	D	1	D	0.61697	0.99	P	0.58721	0.844	T	0.79926	-0.1597	7	0.87932	D	0	-17.8634	15.9638	0.79950	0.0:1.0:0.0:0.0	.	332	Q86YD1-2	.	L	332	.	ENSP00000221557:S332L	S	+	2	0	PTOV1	55055174	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.011000	0.57124	2.377000	0.81083	0.457000	0.33378	TCA	PTOV1	-	NULL		0.577	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PTOV1	HGNC	protein_coding	OTTHUMT00000465347.1	C	NM_017432		50363362	+1	no_errors	ENST00000221557	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRR	5801	genome.wustl.edu	37	12	71029767	71029767	+	IGR	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr12:71029767C>T	ENST00000283228.2	-	0	3529				PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Silent_p.R45R|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000551525.1_Silent_p.R44R|PTPRB_ENST00000550358.1_Silent_p.R45R	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCTGGATGGTCCTGTTGCATG	0.478																																																	0													93.0	89.0	90.0					12																	71029767		2008	4161	6169	SO:0001628	intergenic_variant	5787			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029767C>T			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R45	ENST00000283228.2	37	c.135	CCDS8998.1	12																																																																																			PTPRB	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.478	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404485.1	C	NM_002849		71029767	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	silent	SNP	0.967	T
RAB13	5872	genome.wustl.edu	37	1	153954778	153954779	+	Intron	INS	-	-	AC	rs371625659|rs563763984|rs550367961|rs530111525|rs71584158|rs56853500	byFrequency	TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:153954778_153954779insAC	ENST00000368575.3	-	7	650				RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	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)			TATCAACACCAacacacacaca	0.446																																					Ovarian(138;395 2427 24306 43415)												0																																										SO:0001627	intron_variant	5872			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.534+87->GT	1.37:g.153954787_153954788dupAC			A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	RNA	INS	-	NULL	ENST00000368575.3	37	NULL	CCDS1058.1	1																																																																																			RAB13	-	-		0.446	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	-	NM_002870		153954779	-1	no_errors	ENST00000462680	ensembl	human	known	70_37	rna	INS	0.000:0.000	AC
ROBO1	6091	genome.wustl.edu	37	3	78706263	78706263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr3:78706263G>A	ENST00000464233.1	-	18	2712	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Q831*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Q831*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.Q828*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	867	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGATGAACTGAGGCTCACTC	0.527																																																	0													54.0	58.0	57.0					3																	78706263		2020	4184	6204	SO:0001587	stop_gained	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2599C>T	3.37:g.78706263G>A	ENSP00000420321:p.Gln867*		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_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.Q867*	ENST00000464233.1	37	c.2599	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.361639	0.99148	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.	.	.	6.04	6.04	0.98038	.	0.301525	0.37857	N	0.001904	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3674	0.74535	0.0:0.0:0.8606:0.1394	.	.	.	.	X	828;831;867;831;831;871	.	.	Q	-	1	0	ROBO1	78788953	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.639000	0.61361	2.881000	0.98747	0.650000	0.86243	CAG	ROBO1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	G	NM_002941		78706263	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ROCK1	6093	genome.wustl.edu	37	18	18571173	18571173	+	Missense_Mutation	SNP	G	G	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr18:18571173G>C	ENST00000399799.2	-	18	3047	c.2107C>G	c.(2107-2109)Caa>Gaa	p.Q703E		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	703	Glu-rich.|Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCAATAGATTGATGTTTGTCA	0.303																																																	0													262.0	242.0	249.0					18																	18571173		2203	4299	6502	SO:0001583	missense	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2107C>G	18.37:g.18571173G>C	ENSP00000382697:p.Gln703Glu		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.Q703E	ENST00000399799.2	37	c.2107	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	G	4.283	0.051737	0.08291	.	.	ENSG00000067900	ENST00000399799	T	0.63417	-0.04	4.02	4.02	0.46733	.	0.057425	0.64402	D	0.000001	T	0.38295	0.1035	N	0.08118	0	0.41139	D	0.985943	B	0.06786	0.001	B	0.06405	0.002	T	0.37502	-0.9703	10	0.02654	T	1	.	16.6822	0.85295	0.0:0.0:1.0:0.0	.	703	Q13464	ROCK1_HUMAN	E	703	ENSP00000382697:Q703E	ENSP00000382697:Q703E	Q	-	1	0	ROCK1	16825171	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.950000	0.56676	2.213000	0.71641	0.655000	0.94253	CAA	ROCK1	-	pirsf_Rho-assoc_coiled-coil_kin		0.303	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	G	NM_005406		18571173	-1	no_errors	ENST00000399799	ensembl	human	known	70_37	missense	SNP	1.000	C
SERHL2	253190	genome.wustl.edu	37	22	42971969	42971970	+	IGR	INS	-	-	AGA	rs3046383		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr22:42971969_42971970insAGA	ENST00000327678.5	+	0	1374				RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CTGCCAGGCGTAGTTGAGCAGC	0.678																																																	0																																										SO:0001628	intergenic_variant	91695				CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892		22.37:g.42971969_42971970insAGA			Q5JZ95|Q9UH21	RNA	INS	-	NULL	ENST00000327678.5	37	NULL	CCDS14037.1	22																																																																																			RRP7B	-	-		0.678	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP7B	HGNC	protein_coding	OTTHUMT00000320454.1	-	NM_014509		42971970	-1	no_errors	ENST00000357802	ensembl	human	known	70_37	rna	INS	1.000:1.000	AGA
RUNX1T1	862	genome.wustl.edu	37	8	93026984	93026984	+	Silent	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:93026984G>A	ENST00000523629.1	-	4	745	c.291C>T	c.(289-291)ttC>ttT	p.F97F	RUNX1T1_ENST00000520724.1_Silent_p.F60F|RUNX1T1_ENST00000521553.1_Silent_p.F60F|RUNX1T1_ENST00000396218.1_Silent_p.F70F|RUNX1T1_ENST00000265814.3_Silent_p.F97F|RUNX1T1_ENST00000422361.2_Silent_p.F60F|RUNX1T1_ENST00000360348.2_Silent_p.F60F|RUNX1T1_ENST00000436581.2_Silent_p.F108F|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000518844.1_Silent_p.F70F	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	97					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCCATTGCTGAAGCCATTGG	0.522																																																	0													55.0	58.0	57.0					8																	93026984		2203	4300	6503	SO:0001819	synonymous_variant	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.291C>T	8.37:g.93026984G>A			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.F108	ENST00000523629.1	37	c.324	CCDS6256.1	8																																																																																			RUNX1T1	-	NULL		0.522	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93026984	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	silent	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237880502	237880502	+	Missense_Mutation	SNP	C	C	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:237880502C>A	ENST00000366574.2	+	72	10645	c.10328C>A	c.(10327-10329)gCt>gAt	p.A3443D	RYR2_ENST00000360064.6_Missense_Mutation_p.A3441D|RYR2_ENST00000542537.1_Missense_Mutation_p.A3427D|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3443					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCATAGGCAGCTGTTTCTGAT	0.453																																																	0													57.0	59.0	59.0					1																	237880502		1912	4118	6030	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.10328C>A	1.37:g.237880502C>A	ENSP00000355533:p.Ala3443Asp		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.A3441D	ENST00000366574.2	37	c.10322	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193252	0.38707	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96885	-4.16;-4.13;-4.15	5.34	5.34	0.76211	.	0.182860	0.36338	N	0.002654	D	0.91693	0.7374	N	0.19112	0.55	0.80722	D	1	P	0.48640	0.913	B	0.38562	0.276	D	0.92987	0.6411	10	0.72032	D	0.01	-11.033	14.9647	0.71182	0.0:0.8577:0.1423:0.0	.	3443	Q92736	RYR2_HUMAN	D	3443;3441;3427;398	ENSP00000355533:A3443D;ENSP00000353174:A3441D;ENSP00000443798:A3427D	ENSP00000353174:A3441D	A	+	2	0	RYR2	235947125	1.000000	0.71417	0.994000	0.49952	0.609000	0.37215	4.159000	0.58157	2.667000	0.90743	0.655000	0.94253	GCT	RYR2	-	NULL		0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237880502	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.981	A
RYR3	6263	genome.wustl.edu	37	15	34047363	34047363	+	Missense_Mutation	SNP	G	G	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr15:34047363G>C	ENST00000389232.4	+	58	8567	c.8497G>C	c.(8497-8499)Gaa>Caa	p.E2833Q	RYR3_ENST00000415757.3_Missense_Mutation_p.E2833Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2833					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCTGCTCAAGAATTTATTGC	0.353																																																	0													71.0	69.0	70.0					15																	34047363		1854	4102	5956	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.8497G>C	15.37:g.34047363G>C	ENSP00000373884:p.Glu2833Gln		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.E2833Q	ENST00000389232.4	37	c.8497	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916953	0.52546	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;D	0.96587	-0.37;-4.06	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.95862	0.8653	N	0.20807	0.61	0.80722	D	1	D;B	0.67145	0.996;0.112	D;B	0.68621	0.959;0.05	D	0.93476	0.6823	10	0.15066	T	0.55	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	2833;2833	Q15413-2;Q15413	.;RYR3_HUMAN	Q	2833	ENSP00000373884:E2833Q;ENSP00000399610:E2833Q	ENSP00000354735:E2833Q	E	+	1	0	RYR3	31834655	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	9.781000	0.99029	2.809000	0.96659	0.555000	0.69702	GAA	RYR3	-	superfamily_ARM-type_fold		0.353	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G			34047363	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	C
SARDH	1757	genome.wustl.edu	37	9	136583881	136583881	+	Intron	SNP	T	T	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr9:136583881T>C	ENST00000371872.4	-	7	1278				SARDH_ENST00000422262.2_Intron|SARDH_ENST00000371867.1_Splice_Site|SARDH_ENST00000439388.1_Intron	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase						glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TTTGACTGCCTGCCAGGACCG	0.577																																																	0													136.0	123.0	127.0					9																	136583881		876	1991	2867	SO:0001627	intron_variant	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1020+178A>G	9.37:g.136583881T>C			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Splice_Site	SNP	-	e7-2	ENST00000371872.4	37	c.754-2	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	T	1.305	-0.603777	0.03717	.	.	ENSG00000123453	ENST00000371867;ENST00000393050	.	.	.	2.24	-3.45	0.04781	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1494	0.10230	0.0:0.4389:0.2178:0.3433	.	.	.	.	.	-1	.	.	.	-	.	.	SARDH	135573702	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.360000	0.07622	-0.892000	0.03935	-0.376000	0.06991	.	SARDH	-	-		0.577	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	T			136583881	-1	no_errors	ENST00000371867	ensembl	human	known	70_37	splice_site	SNP	0.000	C
SENP3	26168	genome.wustl.edu	37	17	7474944	7474945	+	3'UTR	INS	-	-	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:7474944_7474945insT	ENST00000429205.2	+	0	1917_1918				SENP3_ENST00000578868.1_3'UTR|EIF4A1_ENST00000380512.5_5'Flank|SENP3_ENST00000321337.7_3'UTR|EIF4A1_ENST00000582746.1_5'Flank|EIF4A1_ENST00000577269.1_5'Flank|EIF4A1_ENST00000293831.8_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3							cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				CAATTTCTGTATTTTTTTTTCT	0.436																																																	0																																										SO:0001624	3_prime_UTR_variant	26168			AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"""SUMO1/sentrin/SMT3 specific protease 3"""			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.*144->T	17.37:g.7474953_7474953dupT			Q66K15|Q86VS7|Q96PS4|Q9Y3W9	RNA	INS	-	NULL	ENST00000429205.2	37	NULL		17																																																																																			SENP3	-	-		0.436	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	SENP3	HGNC	protein_coding		-	NM_015670		7474945	+1	no_errors	ENST00000578868	ensembl	human	known	70_37	rna	INS	1.000:0.999	T
SERPINA13P	388007	genome.wustl.edu	37	14	95109805	95109805	+	RNA	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr14:95109805G>T	ENST00000469935.1	+	0	842					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTTCCCCTCAGCTGAGTGGAT	0.572																																																	0													74.0	59.0	64.0					14																	95109805		2203	4300	6503			388007			AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95109805G>T				Splice_Site	SNP	-	NULL	ENST00000469935.1	37	c.NULL		14																																																																																			SERPINA13P	-	-		0.572	SERPINA13P-002	KNOWN	basic	processed_transcript	SERPINA13P	HGNC	pseudogene	OTTHUMT00000316754.1	G	NR_015340		95109805	+1	no_errors	ENST00000469935	ensembl	human	known	70_37	splice_site	SNP	0.430	T
SESN2	83667	genome.wustl.edu	37	1	28601431	28601431	+	Silent	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:28601431C>T	ENST00000253063.3	+	8	1437	c.1116C>T	c.(1114-1116)agC>agT	p.S372S		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	372					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCTATAGCCTCACCTACA	0.557																																																	0													115.0	94.0	101.0					1																	28601431		2203	4300	6503	SO:0001819	synonymous_variant	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1116C>T	1.37:g.28601431C>T			Q5T7D0|Q96SI5	Silent	SNP	pfam_PA26	p.S372	ENST00000253063.3	37	c.1116	CCDS321.1	1																																																																																			SESN2	-	pfam_PA26		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	C			28601431	+1	no_errors	ENST00000253063	ensembl	human	known	70_37	silent	SNP	1.000	T
SH2D6	284948	genome.wustl.edu	37	2	85657723	85657723	+	5'UTR	SNP	C	C	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:85657723C>A	ENST00000389938.2	+	0	1081				SH2D6_ENST00000481426.2_3'UTR			Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6											central_nervous_system(1)|lung(2)	3						CTCTGCCCCTCAGTCTAGCCC	0.632																																																	0																																										SO:0001623	5_prime_UTR_variant	284948			AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000389938.2:c.-234C>A	2.37:g.85657723C>A			A6ND14|Q6R306	RNA	SNP	-	NULL	ENST00000389938.2	37	NULL		2																																																																																			SH2D6	-	-		0.632	SH2D6-002	KNOWN	basic	protein_coding	SH2D6	HGNC	protein_coding	OTTHUMT00000252494.2	C	NM_198482		85657723	+1	no_errors	ENST00000481426	ensembl	human	known	70_37	rna	SNP	0.021	A
SIPA1L2	57568	genome.wustl.edu	37	1	232600891	232600891	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:232600891C>T	ENST00000366630.1	-	8	2873	c.2515G>A	c.(2515-2517)Gag>Aag	p.E839K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E839K|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	839					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTACCTTCTCCTTTTTCTTC	0.517																																																	0													132.0	128.0	129.0					1																	232600891		1989	4165	6154	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2515G>A	1.37:g.232600891C>T	ENSP00000355589:p.Glu839Lys		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E839K	ENST00000366630.1	37	c.2515	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.380682	0.95945	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.50277	0.75;0.75	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.72120	0.3421	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74163	-0.3754	10	0.87932	D	0	-38.6976	20.053	0.97634	0.0:1.0:0.0:0.0	.	839	Q9P2F8	SI1L2_HUMAN	K	839	ENSP00000355589:E839K;ENSP00000262861:E839K	ENSP00000262861:E839K	E	-	1	0	SIPA1L2	230667514	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	GAG	SIPA1L2	-	NULL		0.517	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	C	XM_045839		232600891	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC26A3	1811	genome.wustl.edu	37	7	107423751	107423751	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr7:107423751C>T	ENST00000340010.5	-	9	1202	c.1018G>A	c.(1018-1020)Gta>Ata	p.V340I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V305I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	340					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)			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						CAATCTCCTACGGTGTTTTGG	0.418																																																	0													87.0	85.0	86.0					7																	107423751		2203	4300	6503	SO:0001583	missense	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.1018G>A	7.37:g.107423751C>T	ENSP00000345873:p.Val340Ile			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.V340I	ENST00000340010.5	37	c.1018	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	T	2.337	-0.352052	0.05173	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92699	-3.09;-3.09	5.28	5.28	0.74379	Sulphate transporter (1);	0.146062	0.64402	N	0.000011	T	0.74589	0.3736	N	0.02685	-0.53	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.62909	-0.6754	10	0.02654	T	1	.	4.587	0.12287	0.1336:0.2153:0.0:0.6511	.	305;340	G5E9U3;P40879	.;S26A3_HUMAN	I	305;340	ENSP00000415817:V305I;ENSP00000345873:V340I	ENSP00000345873:V340I	V	-	1	0	SLC26A3	107210987	0.016000	0.18221	0.905000	0.35620	0.099000	0.18886	0.293000	0.19029	0.947000	0.37659	-0.254000	0.11334	GTA	SLC26A3	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	C	NM_000111		107423751	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	missense	SNP	0.018	T
SLC2A1	6513	genome.wustl.edu	37	1	43396313	43396313	+	Missense_Mutation	SNP	C	C	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:43396313C>A	ENST00000426263.3	-	4	678	c.500G>T	c.(499-501)gGc>gTc	p.G167V	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.G167V	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	167					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GATGAGGATGCCGACGACGAT	0.657																																																	0													23.0	23.0	23.0					1																	43396313		2203	4298	6501	SO:0001583	missense	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.500G>T	1.37:g.43396313C>A	ENSP00000416293:p.Gly167Val		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt	p.G167V	ENST00000426263.3	37	c.500	CCDS477.1	1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534067	0.64972	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722;ENST00000372500	D;D;D	0.90788	-2.73;-2.73;-2.73	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	H	0.99825	4.815	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.99568	1.0970	10	0.87932	D	0	.	16.6986	0.85342	0.0:1.0:0.0:0.0	.	167	P11166	GTR1_HUMAN	V	167;167;132;72;167	ENSP00000416293:G167V;ENSP00000395521:G72V;ENSP00000361578:G167V	ENSP00000361578:G167V	G	-	2	0	SLC2A1	43168900	1.000000	0.71417	0.999000	0.59377	0.355000	0.29361	7.487000	0.81328	2.534000	0.85438	0.555000	0.69702	GGC	SLC2A1	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.657	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	HGNC	protein_coding	OTTHUMT00000020358.2	C	NM_006516		43396313	-1	no_errors	ENST00000426263	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC34A2	10568	genome.wustl.edu	37	4	25665934	25665934	+	Missense_Mutation	SNP	G	G	A	rs565847214		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr4:25665934G>A	ENST00000382051.3	+	4	411	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	SLC34A2_ENST00000503434.1_Missense_Mutation_p.A120T|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A120T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	121					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCTTAGTAGCGCCTTCCAGCT	0.463			T	ROS1	NSCLC								G|||	1	0.000199681	0.0008	0.0	5008	,	,		18346	0.0		0.0	False		,,,				2504	0.0							Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0													119.0	121.0	120.0					4																	25665934		2203	4300	6503	SO:0001583	missense	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.361G>A	4.37:g.25665934G>A	ENSP00000371483:p.Ala121Thr		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.A121T	ENST00000382051.3	37	c.361	CCDS3435.1	4	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990996	0.93106	.	.	ENSG00000157765	ENST00000513204;ENST00000504570;ENST00000382051;ENST00000503434;ENST00000507530	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.958;0.981	D	0.94710	0.7891	10	0.87932	D	0	-38.1619	19.4396	0.94813	0.0:0.0:1.0:0.0	.	120;121	O95436-2;O95436	.;NPT2B_HUMAN	T	120;120;121;120;121	ENSP00000423038:A120T;ENSP00000425501:A120T;ENSP00000371483:A121T;ENSP00000423021:A120T;ENSP00000424266:A121T	ENSP00000371483:A121T	A	+	1	0	SLC34A2	25275032	1.000000	0.71417	0.990000	0.47175	0.820000	0.46376	9.640000	0.98453	2.678000	0.91216	0.655000	0.94253	GCC	SLC34A2	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt		0.463	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	G	NM_006424		25665934	+1	no_errors	ENST00000382051	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC7A1	6541	genome.wustl.edu	37	13	30091325	30091325	+	Missense_Mutation	SNP	C	C	T	rs548607156		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr13:30091325C>T	ENST00000380752.5	-	11	2019	c.1633G>A	c.(1633-1635)Gtc>Atc	p.V545I	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	545					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTCCAGATGACGCCCGTGACC	0.612																																																	0													37.0	36.0	36.0					13																	30091325		2203	4300	6503	SO:0001583	missense	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1633G>A	13.37:g.30091325C>T	ENSP00000370128:p.Val545Ile		Q5JR50	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.V545I	ENST00000380752.5	37	c.1633	CCDS9333.1	13	.	.	.	.	.	.	.	.	.	.	C	2.559	-0.302199	0.05495	.	.	ENSG00000139514	ENST00000380752	D	0.85556	-2.0	4.6	-2.28	0.06826	.	0.382176	0.28996	N	0.013469	T	0.59293	0.2183	N	0.10733	0.035	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53982	-0.8361	10	0.02654	T	1	.	6.5612	0.22487	0.0:0.4038:0.1361:0.4601	.	545	P30825	CTR1_HUMAN	I	545	ENSP00000370128:V545I	ENSP00000370128:V545I	V	-	1	0	SLC7A1	28989325	0.000000	0.05858	0.090000	0.20809	0.189000	0.23516	-0.741000	0.04855	-0.130000	0.11599	-0.291000	0.09656	GTC	SLC7A1	-	pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease		0.612	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2	C	NM_003045		30091325	-1	no_errors	ENST00000380752	ensembl	human	known	70_37	missense	SNP	0.013	T
SMARCA4	6597	genome.wustl.edu	37	19	11130308	11130308	+	Silent	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr19:11130308G>A	ENST00000429416.3	+	19	2828	c.2547G>A	c.(2545-2547)cgG>cgA	p.R849R	SMARCA4_ENST00000444061.3_Silent_p.R849R|SMARCA4_ENST00000450717.3_Silent_p.R849R|SMARCA4_ENST00000344626.4_Silent_p.R849R|SMARCA4_ENST00000590574.1_Silent_p.R849R|SMARCA4_ENST00000358026.2_Silent_p.R849R|SMARCA4_ENST00000541122.2_Silent_p.R849R|SMARCA4_ENST00000589677.1_Silent_p.R849R|SMARCA4_ENST00000413806.3_Silent_p.R849R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	849	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCAGCTCCGGAGTGGGAAGT	0.587			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											101.0	79.0	87.0					19																	11130308		2203	4300	6503	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2547G>A	19.37:g.11130308G>A			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R849	ENST00000429416.3	37	c.2547	CCDS12253.1	19																																																																																			SMARCA4	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.587	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	G	NM_003072		11130308	+1	no_errors	ENST00000358026	ensembl	human	known	70_37	silent	SNP	0.569	A
SNPH	9751	genome.wustl.edu	37	20	1285974	1285974	+	Missense_Mutation	SNP	G	G	A	rs144751280		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr20:1285974G>A	ENST00000381873.3	+	6	997	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	SNPH_ENST00000381867.1_Missense_Mutation_p.R298Q	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	254					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACACTGAGCCGGACGGACGCG	0.687																																																	0								G	GLN/ARG	1,4391		0,1,2195	35.0	34.0	34.0		761	4.8	1.0	20	dbSNP_134	34	0,8546		0,0,4273	no	missense	SNPH	NM_014723.2	43	0,1,6468	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	254/495	1285974	1,12937	2196	4273	6469	SO:0001583	missense	9751				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.761G>A	20.37:g.1285974G>A	ENSP00000371297:p.Arg254Gln		Q8IYI3	Missense_Mutation	SNP	NULL	p.R298Q	ENST00000381873.3	37	c.893	CCDS13012.1	20	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843046	0.32606	2.28E-4	0.0	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.75	4.75	0.60458	.	0.291378	0.28989	N	0.013493	T	0.29288	0.0729	N	0.25890	0.77	0.34613	D	0.717786	P;P	0.38745	0.645;0.576	B;B	0.29077	0.098;0.07	T	0.42582	-0.9443	9	0.25106	T	0.35	-30.7622	12.3656	0.55226	0.0839:0.0:0.9161:0.0	.	298;254	O15079-2;O15079	.;SNPH_HUMAN	Q	254;298	.	ENSP00000371291:R298Q	R	+	2	0	SNPH	1233974	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.840000	0.55843	2.479000	0.83701	0.561000	0.74099	CGG	SNPH	-	NULL		0.687	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNPH	HGNC	protein_coding	OTTHUMT00000145240.2	G	NM_014723		1285974	+1	no_errors	ENST00000381867	ensembl	human	known	70_37	missense	SNP	1.000	A
SOX11	6664	genome.wustl.edu	37	2	5833062	5833062	+	Missense_Mutation	SNP	A	A	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr2:5833062A>C	ENST00000322002.3	+	1	264	c.209A>C	c.(208-210)cAg>cCg	p.Q70P	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	70					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)			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)		ATCATGGAGCAGTCTCCGGAC	0.592																																																	0													72.0	65.0	67.0					2																	5833062		2203	4300	6503	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.209A>C	2.37:g.5833062A>C	ENSP00000322568:p.Gln70Pro		Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily	p.Q70P	ENST00000322002.3	37	c.209	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018597	0.75275	.	.	ENSG00000176887	ENST00000322002	D	0.98120	-4.73	3.16	3.16	0.36331	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000009	D	0.98381	0.9462	M	0.82056	2.57	0.80722	D	1	D	0.57571	0.98	D	0.76575	0.988	D	0.98753	1.0721	10	0.72032	D	0.01	.	11.6889	0.51503	1.0:0.0:0.0:0.0	.	70	P35716	SOX11_HUMAN	P	70	ENSP00000322568:Q70P	ENSP00000322568:Q70P	Q	+	2	0	SOX11	5750513	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.867000	0.92314	1.192000	0.43071	0.391000	0.25812	CAG	SOX11	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily		0.592	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	A	NM_003108		5833062	+1	no_errors	ENST00000322002	ensembl	human	known	70_37	missense	SNP	1.000	C
SPNS3	201305	genome.wustl.edu	37	17	4389616	4389616	+	Missense_Mutation	SNP	G	G	C	rs537260481		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr17:4389616G>C	ENST00000355530.2	+	10	1553	c.1273G>C	c.(1273-1275)Gga>Cga	p.G425R	SPNS3_ENST00000333476.2_Missense_Mutation_p.G298R|RP13-580F15.2_ENST00000577064.1_RNA|RP13-580F15.2_ENST00000577176.1_RNA|RP13-580F15.2_ENST00000576086.1_RNA	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	425					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTATCTCACAGGACTTGTAAG	0.632																																																	0													49.0	47.0	48.0					17																	4389616		2203	4300	6503	SO:0001583	missense	201305				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1273G>C	17.37:g.4389616G>C	ENSP00000347721:p.Gly425Arg		Q8IZ31	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G425R	ENST00000355530.2	37	c.1273	CCDS11045.1	17	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767056	0.69878	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.69685	-0.42;-0.42	4.78	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83312	0.5227	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86141	0.1581	10	0.87932	D	0	-8.7316	16.1152	0.81302	0.0:0.0:1.0:0.0	.	298;425	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	R	425;298	ENSP00000347721:G425R;ENSP00000333207:G298R	ENSP00000333207:G298R	G	+	1	0	SPNS3	4336365	1.000000	0.71417	0.966000	0.40874	0.679000	0.39708	7.461000	0.80834	2.600000	0.87896	0.591000	0.81541	GGA	SPNS3	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.632	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	G	NM_182538		4389616	+1	no_errors	ENST00000355530	ensembl	human	known	70_37	missense	SNP	0.988	C
SPRY4	81848	genome.wustl.edu	37	5	141694154	141694154	+	Frame_Shift_Del	DEL	G	G	-	rs369403370		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:141694154delG	ENST00000434127.2	-	2	763	c.520delC	c.(520-522)cggfs	p.R174fs	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Frame_Shift_Del_p.R197fs	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAACGTCCGGGGGGATGCA	0.607									Testicular Cancer, Familial Clustering of																																								0													72.0	73.0	73.0					5																	141694154		2203	4300	6503	SO:0001589	frameshift_variant	81848	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.520delC	5.37:g.141694154delG	ENSP00000399468:p.Arg174fs		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Frame_Shift_Del	DEL	pfam_Sprouty	p.R197fs	ENST00000434127.2	37	c.589	CCDS47296.1	5																																																																																			SPRY4	-	pfam_Sprouty		0.607	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY4	HGNC	protein_coding	OTTHUMT00000370652.1	G			141694154	-1	no_errors	ENST00000344120	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
SSC4D	136853	genome.wustl.edu	37	7	76021282	76021282	+	Splice_Site	SNP	G	G	A	rs200937354		TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr7:76021282G>A	ENST00000275560.3	-	10	1757	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GGCACCTACCGTCCCTGGGCC	0.582																																																	0													42.0	33.0	36.0					7																	76021282		2203	4299	6502	SO:0001630	splice_region_variant	136853																														ENST00000275560.3:c.1411+1C>T	7.37:g.76021282G>A				Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.D470	ENST00000275560.3	37	c.1410	CCDS5585.1	7																																																																																			SRCRB4D	-	superfamily_Srcr_rcpt-rel		0.582	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	HGNC	protein_coding	OTTHUMT00000253001.3	G		Silent	76021282	-1	no_errors	ENST00000275560	ensembl	human	known	70_37	silent	SNP	0.962	A
SUN2	25777	genome.wustl.edu	37	22	39146332	39146332	+	Intron	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr22:39146332G>T	ENST00000405510.1	-	6	783				SUN2_ENST00000405018.1_Missense_Mutation_p.P161T|SUN2_ENST00000216064.4_Intron|SUN2_ENST00000411587.2_Intron|SUN2_ENST00000406622.1_Intron|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TAGCCTGCGGGGAACGAGGAC	0.612																																																	0													47.0	42.0	44.0					22																	39146332		2203	4300	6503	SO:0001627	intron_variant	25777			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.425-7C>A	22.37:g.39146332G>T			B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.P161T	ENST00000405510.1	37	c.481	CCDS13978.1	22	.	.	.	.	.	.	.	.	.	.	G	5.523	0.281447	0.10458	.	.	ENSG00000100242	ENST00000405018	T	0.10960	2.82	4.96	2.83	0.33086	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.80722	D	1	B	0.27823	0.19	B	0.24155	0.051	T	0.42241	-0.9463	8	.	.	.	.	9.0191	0.36188	0.0803:0.147:0.7727:0.0	.	161	B0QY62	.	T	161	ENSP00000385616:P161T	.	P	-	1	0	SUN2	37476278	0.605000	0.26941	0.726000	0.30738	0.443000	0.32047	2.608000	0.46308	0.588000	0.29660	-0.310000	0.09108	CCC	SUN2	-	NULL		0.612	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	G	XM_039332		39146332	-1	no_errors	ENST00000405018	ensembl	human	novel	70_37	missense	SNP	0.873	T
TARS	6897	genome.wustl.edu	37	5	33457395	33457395	+	Missense_Mutation	SNP	A	A	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:33457395A>G	ENST00000265112.3	+	9	1182	c.871A>G	c.(871-873)Atg>Gtg	p.M291V	TARS_ENST00000455217.2_Missense_Mutation_p.M324V|TARS_ENST00000502553.1_Missense_Mutation_p.M291V|TARS_ENST00000414361.2_Missense_Mutation_p.M170V|TARS_ENST00000541634.1_Missense_Mutation_p.M187V	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	291					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CAAAGCAGATATGGAGACTCT	0.383																																																	0													115.0	119.0	118.0					5																	33457395		2203	4300	6503	SO:0001583	missense	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.871A>G	5.37:g.33457395A>G	ENSP00000265112:p.Met291Val		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	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,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.M291V	ENST00000265112.3	37	c.871	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315358	0.60524	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.41758	0.99;0.99;1.0	5.92	5.92	0.95590	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.61703	1.905	0.80722	D	1	B;P;P;P	0.36837	0.137;0.571;0.516;0.571	B;P;B;B	0.46208	0.216;0.507;0.281;0.403	T	0.52487	-0.8569	10	0.49607	T	0.09	1.1921	16.3996	0.83635	1.0:0.0:0.0:0.0	.	170;324;187;291	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	V	291;291;187;324;170	ENSP00000424387:M291V;ENSP00000265112:M291V;ENSP00000387710:M324V	ENSP00000265112:M291V	M	+	1	0	TARS	33493152	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.326000	0.96389	2.275000	0.75901	0.529000	0.55759	ATG	TARS	-	pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-ligase_IIa		0.383	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	A	NM_152295		33457395	+1	no_errors	ENST00000265112	ensembl	human	known	70_37	missense	SNP	1.000	G
TDRD1	56165	genome.wustl.edu	37	10	115973798	115973798	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr10:115973798G>A	ENST00000369280.1	+	16	2597	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N	TDRD1_ENST00000251864.2_Missense_Mutation_p.D713N|TDRD1_ENST00000422662.1_Missense_Mutation_p.D317N|TDRD1_ENST00000369282.1_Missense_Mutation_p.D713N|TDRD1_ENST00000369281.2_Missense_Mutation_p.D656N			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	713					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACTTGGTGTTGACCAAACAGT	0.378																																																	0													284.0	259.0	267.0					10																	115973798		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2137G>A	10.37:g.115973798G>A	ENSP00000358286:p.Asp713Asn		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.D713N	ENST00000369280.1	37	c.2137		10	.	.	.	.	.	.	.	.	.	.	G	11.93	1.787062	0.31593	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.47	4.46	0.54185	Maternal tudor protein (1);	0.238899	0.41001	D	0.000972	T	0.04998	0.0134	N	0.16708	0.43	0.29233	N	0.873179	B;B;P;B;B	0.35628	0.206;0.007;0.513;0.011;0.043	B;B;B;B;B	0.35510	0.129;0.024;0.204;0.018;0.047	T	0.23726	-1.0180	10	0.08381	T	0.77	-21.8582	4.8162	0.13367	0.2089:0.0:0.7911:0.0	.	317;713;656;713;656	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	N	713;713;656;317;713	ENSP00000358288:D713N;ENSP00000251864:D713N;ENSP00000358287:D656N;ENSP00000402794:D317N;ENSP00000358286:D713N	ENSP00000251864:D713N	D	+	1	0	TDRD1	115963788	1.000000	0.71417	0.988000	0.46212	0.875000	0.50365	2.548000	0.45794	2.551000	0.86045	0.563000	0.77884	GAC	TDRD1	-	pfam_Tudor		0.378	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	G			115973798	+1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.767	A
TMPRSS11A	339967	genome.wustl.edu	37	4	68812207	68812207	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr4:68812207delC	ENST00000334830.7	-	2	840	c.94delG	c.(94-96)gcafs	p.A32fs	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Frame_Shift_Del_p.A31fs|TMPRSS11A_ENST00000396188.2_Frame_Shift_Del_p.A32fs			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	32					cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATGGTCACTGCCACCACTGTC	0.433																																					NSCLC(26;2 894 10941 14480 22546)												0													80.0	72.0	75.0					4																	68812207		2203	4300	6503	SO:0001589	frameshift_variant	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.94delG	4.37:g.68812207delC	ENSP00000334611:p.Ala32fs		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Frame_Shift_Del	DEL	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.A32fs	ENST00000334830.7	37	c.94	CCDS3519.1	4																																																																																			TMPRSS11A	-	pirsf_Pept_S1A_HAT/DESC1		0.433	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	C	NM_182606		68812207	-1	no_errors	ENST00000334830	ensembl	human	known	70_37	frame_shift_del	DEL	0.001	-
TPTEP1	387590	genome.wustl.edu	37	22	17117949	17117949	+	lincRNA	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr22:17117949G>A	ENST00000426585.1	+	0	249									transmembrane phosphatase with tensin homology pseudogene 1																		TAAGAAAATTGTGCATTCAAT	0.333																																																	0																																												387590					22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17117949G>A				RNA	SNP	-	NULL	ENST00000426585.1	37	NULL		22																																																																																			TPTEP1	-	-		0.333	TPTEP1-002	KNOWN	basic	lincRNA	TPTEP1	HGNC	lincRNA	OTTHUMT00000280575.1	G	NR_001591		17117949	+1	no_errors	ENST00000383140	ensembl	human	known	70_37	rna	SNP	0.001	A
TUBB2B	347733	genome.wustl.edu	37	6	3224826	3224826	+	3'UTR	SNP	A	A	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr6:3224826A>G	ENST00000259818.7	-	0	1688				TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CAAAAAAGGAAAAAAAAAGTG	0.403																																																	0																																										SO:0001624	3_prime_UTR_variant	347733			BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.*159T>C	6.37:g.3224826A>G			A8K068	RNA	SNP	-	NULL	ENST00000259818.7	37	NULL	CCDS4485.1	6																																																																																			TUBB2B	-	-		0.403	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2B	HGNC	protein_coding	OTTHUMT00000039680.2	A	NM_178012		3224826	-1	no_errors	ENST00000473006	ensembl	human	known	70_37	rna	SNP	0.003	G
UBR4	23352	genome.wustl.edu	37	1	19437114	19437114	+	Intron	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:19437114C>T	ENST00000375254.3	-	79	11920				UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375226.2_Intron|UBR4_ENST00000375267.2_Intron	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAAAACCATTCTGGGGTAATG	0.522																																																	0																																										SO:0001627	intron_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11892+121G>A	1.37:g.19437114C>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	RNA	SNP	-	NULL	ENST00000375254.3	37	NULL	CCDS189.1	1																																																																																			UBR4	-	-		0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19437114	-1	no_errors	ENST00000466969	ensembl	human	known	70_37	rna	SNP	0.000	T
TXNIP	10628	genome.wustl.edu	37	1	145439808	145439808	+	Silent	SNP	T	T	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:145439808T>C	ENST00000369317.4	+	3	688	c.354T>C	c.(352-354)taT>taC	p.Y118Y	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	118					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)			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)					AAGGAAAATATGGGTGTGTAG	0.433																																																	0													93.0	96.0	95.0					1																	145439808		2203	4300	6503	SO:0001819	synonymous_variant	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.354T>C	1.37:g.145439808T>C			B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.Y118	ENST00000369317.4	37	c.354	CCDS913.1	1																																																																																			TXNIP	-	pfam_Arrestin-like_N,superfamily_Ig_E-set		0.433	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	T	NM_006472		145439808	+1	no_errors	ENST00000369317	ensembl	human	known	70_37	silent	SNP	1.000	C
UTP11L	51118	genome.wustl.edu	37	1	38484134	38484134	+	Splice_Site	SNP	A	A	G			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:38484134A>G	ENST00000373014.4	+	4	289		c.e4-1		UTP11L_ENST00000488453.1_Splice_Site|UTP11L_ENST00000537711.1_Splice_Site	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)						nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTTGGATTTTAGGATGGAGTA	0.353																																																	0													58.0	66.0	63.0					1																	38484134		2201	4299	6500	SO:0001630	splice_region_variant	51118			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.229-1A>G	1.37:g.38484134A>G			A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Splice_Site	SNP	-	e4-2	ENST00000373014.4	37	c.229-2	CCDS429.1	1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.160610	0.78226	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3021	0.82825	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTP11L	38256721	1.000000	0.71417	0.988000	0.46212	0.903000	0.53119	8.025000	0.88777	2.326000	0.78906	0.533000	0.62120	.	UTP11L	-	-		0.353	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP11L	HGNC	protein_coding	OTTHUMT00000012962.1	A	NM_016037	Intron	38484134	+1	no_errors	ENST00000373014	ensembl	human	known	70_37	splice_site	SNP	0.999	G
USH2A	7399	genome.wustl.edu	37	1	216348638	216348638	+	Missense_Mutation	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr1:216348638C>T	ENST00000307340.3	-	21	4969	c.4583G>A	c.(4582-4584)tGt>tAt	p.C1528Y	USH2A_ENST00000366943.2_Missense_Mutation_p.C1528Y|USH2A_ENST00000366942.3_Missense_Mutation_p.C1528Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1528	Laminin G-like 1. {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)			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)		GGGAAATTTACAATACCCATT	0.428										HNSCC(13;0.011)																																							0													90.0	68.0	75.0					1																	216348638		2203	4300	6503	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.4583G>A	1.37:g.216348638C>T	ENSP00000305941:p.Cys1528Tyr		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.C1528Y	ENST00000307340.3	37	c.4583	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	1.546	-0.540448	0.04053	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.78707	-1.2;-1.2;2.32	5.89	-1.68	0.08212	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (1);	0.345703	0.20827	N	0.084959	T	0.44286	0.1286	N	0.03177	-0.4	0.27334	N	0.956692	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.44952	-0.9294	10	0.02654	T	1	.	7.4287	0.27115	0.1154:0.2753:0.0:0.6093	.	1528;1528	O75445-2;O75445	.;USH2A_HUMAN	Y	1528	ENSP00000305941:C1528Y;ENSP00000355910:C1528Y;ENSP00000355909:C1528Y	ENSP00000305941:C1528Y	C	-	2	0	USH2A	214415261	0.247000	0.23920	0.133000	0.22050	0.967000	0.64934	-0.144000	0.10280	-0.169000	0.10834	0.637000	0.83480	TGT	USH2A	-	superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,pfscan_Laminin_G		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216348638	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.495	T
VPS4B	9525	genome.wustl.edu	37	18	61074678	61074678	+	Silent	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr18:61074678C>T	ENST00000238497.5	-	4	554	c.351G>A	c.(349-351)caG>caA	p.Q117Q	VPS4B_ENST00000591519.1_Silent_p.Q117Q|VPS4B_ENST00000591383.1_5'Flank	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	117					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GAAGTTGATTCTGTAGTTTCT	0.294																																																	0													50.0	47.0	48.0					18																	61074678		2201	4290	6491	SO:0001819	synonymous_variant	9525			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.351G>A	18.37:g.61074678C>T			Q69HW4|Q9GZS7	Silent	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.Q117	ENST00000238497.5	37	c.351	CCDS11983.1	18																																																																																			VPS4B	-	NULL		0.294	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	C	NM_004869		61074678	-1	no_errors	ENST00000238497	ensembl	human	known	70_37	silent	SNP	1.000	T
YTHDC2	64848	genome.wustl.edu	37	5	112884255	112884255	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:112884255G>A	ENST00000161863.4	+	11	1726	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E505K	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	505					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CAGACATAGTGAAACCAGTGC	0.348																																																	0													96.0	97.0	97.0					5																	112884255		2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1513G>A	5.37:g.112884255G>A	ENSP00000161863:p.Glu505Lys		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E505K	ENST00000161863.4	37	c.1513	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844287	0.71488	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.67171	-0.25;-0.25	5.43	5.43	0.79202	Ankyrin repeat-containing domain (4);	0.055700	0.64402	D	0.000001	T	0.54759	0.1878	N	0.16903	0.455	0.58432	D	0.999992	B	0.31153	0.31	B	0.30029	0.11	T	0.56068	-0.8040	10	0.51188	T	0.08	.	19.5853	0.95488	0.0:0.0:1.0:0.0	.	505	Q9H6S0	YTDC2_HUMAN	K	505;505;415	ENSP00000161863:E505K;ENSP00000423101:E505K	ENSP00000161863:E505K	E	+	1	0	YTHDC2	112912154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.664000	0.83830	2.701000	0.92244	0.557000	0.71058	GAA	YTHDC2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.348	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	G	NM_022828		112884255	+1	no_errors	ENST00000161863	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR55	54853	genome.wustl.edu	37	5	140047914	140047914	+	Missense_Mutation	SNP	G	G	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr5:140047914G>T	ENST00000358337.5	+	2	524	c.287G>T	c.(286-288)gGg>gTg	p.G96V		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	96					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAAGATGGGCAGAGTGAG	0.552																																																	0													122.0	109.0	114.0					5																	140047914		2203	4300	6503	SO:0001583	missense	54853			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.287G>T	5.37:g.140047914G>T	ENSP00000351100:p.Gly96Val		Q9NXK4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G96V	ENST00000358337.5	37	c.287	CCDS4235.1	5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041719	0.75732	.	.	ENSG00000120314	ENST00000358337	T	0.39406	1.08	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.78278	0.4258	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86627	0.1883	10	0.87932	D	0	-7.4712	17.4665	0.87634	0.0:0.0:1.0:0.0	.	96	Q9H6Y2	WDR55_HUMAN	V	96	ENSP00000351100:G96V	ENSP00000351100:G96V	G	+	2	0	WDR55	140028098	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.396000	0.97270	2.644000	0.89710	0.563000	0.77884	GGG	WDR55	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.552	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR55	HGNC	protein_coding	OTTHUMT00000251680.3	G	NM_017706		140047914	+1	no_errors	ENST00000358337	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF133	7692	genome.wustl.edu	37	20	18295839	18295839	+	Missense_Mutation	SNP	G	G	C			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr20:18295839G>C	ENST00000316358.4	+	4	441	c.344G>C	c.(343-345)gGt>gCt	p.G115A	ZNF133_ENST00000535822.1_Missense_Mutation_p.G20A|ZNF133_ENST00000538547.1_Missense_Mutation_p.G20A|ZNF133_ENST00000402618.2_Missense_Mutation_p.G52A|ZNF133_ENST00000377671.3_Missense_Mutation_p.G114A|ZNF133_ENST00000401790.1_Missense_Mutation_p.G115A|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.G118A|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	115					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TGTGCAGAAGGTAACATCCAG	0.567																																																	0													94.0	93.0	93.0					20																	18295839		2203	4300	6503	SO:0001583	missense	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.344G>C	20.37:g.18295839G>C	ENSP00000346090:p.Gly115Ala		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	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.G118A	ENST00000316358.4	37	c.353		20	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.127179	0.01770	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000434018;ENST00000538547;ENST00000535822;ENST00000316358;ENST00000425686	T;T;T;T;T;T;T;T;T	0.06142	3.51;3.48;3.34;3.48;5.73;3.38;3.38;3.48;5.72	4.12	-1.02	0.10135	.	1.262310	0.05474	N	0.553552	T	0.04137	0.0115	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.10296	0.0;0.001;0.0;0.003	B;B;B;B	0.12156	0.0;0.001;0.001;0.007	T	0.45673	-0.9245	10	0.10636	T	0.68	0.0173	5.4064	0.16324	0.1651:0.3849:0.45:0.0	.	52;118;115;114	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	A	114;118;52;115;115;20;20;115;115	ENSP00000366899:G114A;ENSP00000400897:G118A;ENSP00000385279:G52A;ENSP00000383945:G115A;ENSP00000403835:G115A;ENSP00000442978:G20A;ENSP00000439427:G20A;ENSP00000346090:G115A;ENSP00000406638:G115A	ENSP00000346090:G115A	G	+	2	0	ZNF133	18243839	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.308000	0.08156	-0.142000	0.11354	0.655000	0.94253	GGT	ZNF133	-	NULL		0.567	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	G	NM_003434		18295839	+1	no_errors	ENST00000396026	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF16	7564	genome.wustl.edu	37	8	146156819	146156819	+	Missense_Mutation	SNP	G	G	A			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr8:146156819G>A	ENST00000276816.4	-	4	1540	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	ZNF16_ENST00000394909.2_Missense_Mutation_p.R452W	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	452					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGAATTCTCCGATGCTGAATA	0.478																																																	0													83.0	81.0	82.0					8																	146156819		2203	4300	6503	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1354C>T	8.37:g.146156819G>A	ENSP00000276816:p.Arg452Trp		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R452W	ENST00000276816.4	37	c.1354	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599273	0.28534	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.18810	2.19;2.19	3.88	2.95	0.34219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41811	0.1175	M	0.64404	1.975	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.09100	-1.0690	9	0.87932	D	0	.	11.6581	0.51330	0.0:0.0:0.8223:0.1777	.	452	P17020	ZNF16_HUMAN	W	452	ENSP00000276816:R452W;ENSP00000378369:R452W	ENSP00000276816:R452W	R	-	1	2	ZNF16	146127623	0.001000	0.12720	0.322000	0.25334	0.349000	0.29174	1.000000	0.29770	1.985000	0.57927	0.462000	0.41574	CGG	ZNF16	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1	G	NM_006958		146156819	-1	no_errors	ENST00000276816	ensembl	human	known	70_37	missense	SNP	0.044	A
ZNF831	128611	genome.wustl.edu	37	20	57767394	57767394	+	Silent	SNP	C	C	T			TCGA-WL-A834-01A-11D-A351-09	TCGA-WL-A834-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25cea399-9ddb-4c2c-9fa3-b0d9895a51db	bcbc833b-04a1-4bf0-af6c-57b5f0b15f69	g.chr20:57767394C>T	ENST00000371030.2	+	1	1320	c.1320C>T	c.(1318-1320)atC>atT	p.I440I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	440							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			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)					AGGGCAGCATCGACCTGCCCA	0.677																																																	0													29.0	36.0	34.0					20																	57767394		2083	4186	6269	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.1320C>T	20.37:g.57767394C>T			Q5TDR4|Q8TCP0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I440	ENST00000371030.2	37	c.1320	CCDS42894.1	20																																																																																			ZNF831	-	NULL		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57767394	+1	no_errors	ENST00000371030	ensembl	human	novel	70_37	silent	SNP	0.989	T
