#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_ ensembl_gene_id	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_GMAF	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_dbSNP	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_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
OR8B12	219858	genome.wustl.edu	37	11	124413017	124413017	+	Silent	SNP	A	A	G			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr11:124413017A>G	ENST00000306842.2	-	1	558	c.534T>C	c.(532-534)tgT>tgC	p.C178C		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GAAGGATGTCACACATGAAAT	0.502													ENSG00000170953																																					0													158.0	120.0	133.0					11																	124413017		2201	4299	6500	SO:0001819	synonymous_variant	0			-		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.534T>C	11.37:g.124413017A>G			B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.C178	ENST00000306842.2	37	c.534	CCDS31711.1	11																																																																																			-	OR8B12	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.502	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	HGNC	protein_coding	OTTHUMT00000387061.1	0	0	0	33	33	37	0.00	0.00	A			124413017	-1	18	20	24	48	tier1	no_errors	ENST00000306842	ensembl	human	known	74_37	silent	42.86	29.41	SNP	1.000	G	18	24
RB1	5925	genome.wustl.edu	37	13	48955394	48955394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr13:48955394C>T	ENST00000267163.4	+	17	1648	c.1510C>T	c.(1510-1512)Cag>Tag	p.Q504*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	504	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.T502fs*22(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGTACATCTCAGAATCTTGA	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			ENSG00000139687																											yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	24	Whole gene deletion(15)|Unknown(8)|Complex - frameshift(1)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CM030506	RB1	M							32.0	32.0	32.0					13																	48955394		2201	4299	6500	SO:0001587	stop_gained	0	Familial Cancer Database		-	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1510C>T	13.37:g.48955394C>T	ENSP00000267163:p.Gln504*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.Q504*	ENST00000267163.4	37	c.1510	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	38	6.927048	0.97940	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.1	5.1	0.69264	.	0.329098	0.32901	N	0.005510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.4998	0.90877	0.0:1.0:0.0:0.0	.	.	.	.	X	483;504	.	ENSP00000267163:Q504X	Q	+	1	0	RB1	47853395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.710000	0.61873	2.370000	0.80446	0.650000	0.86243	CAG	-	RB1	-	pfam_RB_A,superfamily_Cyclin-like		0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	0	0	0	35	35	36	0.00	0.00	C			48955394	+1	18	25	2	10	tier1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	90.00	71.43	SNP	1.000	T	18	2
HS3ST5	222537	genome.wustl.edu	37	6	114379226	114379226	+	Missense_Mutation	SNP	T	T	G	rs370563140		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr6:114379226T>G	ENST00000312719.5	-	5	1424	c.236A>C	c.(235-237)gAg>gCg	p.E79A	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E79A|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	79					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GCGAACCTGCTCCTTGGAAGC	0.597													ENSG00000249853																																					0								T	ALA/GLU	0,4406		0,0,2203	62.0	57.0	59.0		236	5.6	1.0	6		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	HS3ST5	NM_153612.3	107	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	benign	79/347	114379226	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.236A>C	6.37:g.114379226T>G	ENSP00000427888:p.Glu79Ala		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.E79A	ENST00000312719.5	37	c.236	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	T	13.03	2.115604	0.37339	0.0	1.16E-4	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.46063	0.88;0.88	5.62	5.62	0.85841	.	0.284356	0.39210	N	0.001425	T	0.19644	0.0472	N	0.25647	0.755	0.53005	D	0.99996	B	0.15141	0.012	B	0.15870	0.014	T	0.03545	-1.1026	10	0.41790	T	0.15	.	16.1189	0.81329	0.0:0.0:0.0:1.0	.	79	Q8IZT8	HS3S5_HUMAN	A	79	ENSP00000427888:E79A;ENSP00000440332:E79A	ENSP00000427888:E79A	E	-	2	0	HS3ST5	114485919	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.008000	0.70739	2.263000	0.75096	0.533000	0.62120	GAG	-	HS3ST5	-	superfamily_P-loop_NTPase		0.597	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	0	0	0	21	21	50	0.00	0.00	T	NM_153612		114379226	-1	14	15	23	34	tier1	no_errors	ENST00000312719	ensembl	human	known	74_37	missense	37.84	30.61	SNP	1.000	G	14	23
PCDHA4	56144	genome.wustl.edu	37	5	140187742	140187742	+	Missense_Mutation	SNP	G	G	C			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr5:140187742G>C	ENST00000530339.1	+	1	970	c.970G>C	c.(970-972)Gat>Cat	p.D324H	PCDHA4_ENST00000356878.4_Missense_Mutation_p.D324H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D324H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	324	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGGCATTGATAAGGGACA	0.358													ENSG00000204967																																					0													115.0	122.0	120.0					5																	140187742		2203	4300	6503	SO:0001583	missense	0			-	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.970G>C	5.37:g.140187742G>C	ENSP00000435300:p.Asp324His		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D324H	ENST00000530339.1	37	c.970	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	18.66	3.671550	0.67928	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.80824	-1.42;-1.42;-1.42	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.41823	U	0.000809	D	0.94515	0.8234	H	0.99555	4.625	0.45594	D	0.998539	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97432	1.0016	10	0.87932	D	0	.	17.2044	0.86914	0.0:0.0:1.0:0.0	.	324;324;324	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	H	324	ENSP00000423470:D324H;ENSP00000349344:D324H;ENSP00000435300:D324H	ENSP00000349344:D324H	D	+	1	0	PCDHA4	140167926	1.000000	0.71417	0.681000	0.30009	0.974000	0.67602	9.420000	0.97426	2.137000	0.66172	0.467000	0.42956	GAT	-	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.358	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	0	0	0	137	137	159	0.00	0.00	G	NM_018907		140187742	+1	29	37	31	76	tier1	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	48.33	32.74	SNP	1.000	C	29	31
HS3ST5	222537	genome.wustl.edu	37	6	114379227	114379227	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr6:114379227C>T	ENST00000312719.5	-	5	1423	c.235G>A	c.(235-237)Gag>Aag	p.E79K	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E79K|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	79					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGAACCTGCTCCTTGGAAGCG	0.597													ENSG00000249853																																					0													62.0	57.0	59.0					6																	114379227		2203	4300	6503	SO:0001583	missense	0			-	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.235G>A	6.37:g.114379227C>T	ENSP00000427888:p.Glu79Lys		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.E79K	ENST00000312719.5	37	c.235	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129295	0.37630	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.44083	0.93;0.93	5.62	4.76	0.60689	.	0.284356	0.39210	N	0.001425	T	0.23330	0.0564	L	0.46157	1.445	0.49483	D	0.999793	B	0.15141	0.012	B	0.14023	0.01	T	0.06320	-1.0833	10	0.39692	T	0.17	.	15.1642	0.72807	0.0:0.9321:0.0:0.0679	.	79	Q8IZT8	HS3S5_HUMAN	K	79	ENSP00000427888:E79K;ENSP00000440332:E79K	ENSP00000427888:E79K	E	-	1	0	HS3ST5	114485920	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.529000	0.67135	1.525000	0.49052	-0.123000	0.14984	GAG	-	HS3ST5	-	superfamily_P-loop_NTPase		0.597	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	0	0	0	21	21	50	0.00	0.00	C	NM_153612		114379227	-1	15	14	21	32	tier1	no_errors	ENST00000312719	ensembl	human	known	74_37	missense	41.67	30.43	SNP	1.000	T	15	21
WIPF1	7456	genome.wustl.edu	37	2	175439998	175439998	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:175439998G>A	ENST00000392547.2	-	4	391	c.292C>T	c.(292-294)Cca>Tca	p.P98S	WIPF1_ENST00000410117.1_Missense_Mutation_p.P98S|WIPF1_ENST00000392546.2_Missense_Mutation_p.P98S|WIPF1_ENST00000409891.1_Missense_Mutation_p.P98S|AC018890.6_ENST00000442996.1_RNA|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.P98S|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.P98S|WIPF1_ENST00000272746.5_Missense_Mutation_p.P98S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	98					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CCCAGACCTGGAGGTccgccc	0.607													ENSG00000115935																																					0													99.0	101.0	100.0					2																	175439998		2203	4300	6503	SO:0001583	missense	0			-	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.292C>T	2.37:g.175439998G>A	ENSP00000376330:p.Pro98Ser		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	smart_WH2_dom,pfscan_WH2_dom	p.P98S	ENST00000392547.2	37	c.292	CCDS2260.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210467	0.79240	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;2.43;1.62	5.28	5.28	0.74379	.	0.197329	0.44097	D	0.000483	D	0.88749	0.6521	M	0.73962	2.25	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;0.985	D;D;D;P	0.87578	0.998;0.996;0.998;0.842	D	0.85280	0.1061	10	0.15066	T	0.55	.	18.9334	0.92576	0.0:0.0:1.0:0.0	.	98;98;98;98	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	S	98;98;98;98;98;98;98;95;98;98	ENSP00000376330:P98S;ENSP00000272746:P98S;ENSP00000352802:P98S;ENSP00000376329:P98S;ENSP00000386431:P98S;ENSP00000387150:P98S;ENSP00000391785:P95S;ENSP00000386757:P98S	ENSP00000272746:P98S	P	-	1	0	WIPF1	175148244	1.000000	0.71417	0.253000	0.24343	0.950000	0.60333	5.024000	0.64090	2.464000	0.83262	0.462000	0.41574	CCA	-	WIPF1	-	NULL		0.607	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	0	0	0	55	55	53	0.00	0.00	G	NM_003387		175439998	-1	19	20	20	29	tier1	no_errors	ENST00000272746	ensembl	human	known	74_37	missense	48.72	40.82	SNP	0.994	A	19	20
SLCO1C1	53919	genome.wustl.edu	37	12	20905320	20905320	+	Missense_Mutation	SNP	A	A	C			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr12:20905320A>C	ENST00000266509.2	+	15	2365	c.1997A>C	c.(1996-1998)aAa>aCa	p.K666T	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.K617T|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.E700D|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.E700D|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.E582D	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	666					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ATTTTAAAGAAAAATTATGTT	0.338													ENSG00000139155																																					0													51.0	52.0	51.0					12																	20905320		2203	4300	6503	SO:0001583	missense	0			-	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1997A>C	12.37:g.20905320A>C	ENSP00000266509:p.Lys666Thr		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.E700D	ENST00000266509.2	37	c.2100	CCDS8683.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.944499|2.944499	0.53079|0.53079	.|.	.|.	ENSG00000139155|ENSG00000139155	ENST00000545604;ENST00000381552;ENST00000545102|ENST00000540354;ENST00000266509	T;T;T|T;T	0.39056|0.60171	1.1;1.1;1.17|0.21;0.21	5.37|5.37	4.22|4.22	0.49857|0.49857	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.767390|.	0.01272|.	N|.	0.009483|.	T|T	0.47619|0.47619	0.1455|0.1455	N|N	0.08118|0.08118	0|0	0.23174|0.23174	N|N	0.998176|0.998176	P;P|P;B	0.43094|0.52692	0.799;0.698|0.955;0.451	P;B|P;B	0.44921|0.57620	0.464;0.275|0.824;0.41	T|T	0.26985|0.26985	-1.0087|-1.0087	10|9	0.21540|0.42905	T|T	0.41|0.14	.|.	5.3101|5.3101	0.15825|0.15825	0.8398:0.0:0.1602:0.0|0.8398:0.0:0.1602:0.0	.|.	582;700|617;666	F5GZD6;Q5JPA4|B7Z3Q3;Q9NYB5	.;.|.;SO1C1_HUMAN	D|T	700;700;582|617;666	ENSP00000444149:E700D;ENSP00000370964:E700D;ENSP00000444527:E582D|ENSP00000438665:K617T;ENSP00000266509:K666T	ENSP00000370964:E700D|ENSP00000266509:K666T	E|K	+|+	3|2	2|0	SLCO1C1|SLCO1C1	20796587|20796587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.352000|2.352000	0.44080|0.44080	2.257000|2.257000	0.74773|0.74773	0.533000|0.533000	0.62120|0.62120	GAA|AAA	-	SLCO1C1	-	NULL		0.338	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	0	0	0	80	80	40	0.00	0.00	A	NM_017435		20905320	+1	26	31	29	48	tier1	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	47.27	39.24	SNP	1.000	C	26	29
TP53	7157	genome.wustl.edu	37	17	7577540	7577540	+	Silent	SNP	G	G	A	rs397516437		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr17:7577540G>A	ENST00000269305.4	-	7	930	c.741C>T	c.(739-741)aaC>aaT	p.N247N	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Silent_p.N247N|TP53_ENST00000359597.4_Silent_p.N247N|TP53_ENST00000445888.2_Silent_p.N247N|TP53_ENST00000420246.2_Silent_p.N247N|TP53_ENST00000455263.2_Silent_p.N247N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	247	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(16)|p.N247N(10)|p.0?(8)|p.?(5)|p.N247K(2)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.N247I(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGGCCTCCGGTTCATGCCGC	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	52	Substitution - Missense(19)|Substitution - coding silent(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Complex - compound substitution(3)|Deletion - Frameshift(1)	skin(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|lung(4)|breast(4)|bone(4)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(2)|central_nervous_system(2)|oesophagus(2)|ovary(2)|peritoneum(1)|soft_tissue(1)|liver(1)|large_intestine(1)|penis(1)|pancreas(1)											152.0	113.0	126.0					17																	7577540		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.741C>T	17.37:g.7577540G>A			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.N247	ENST00000269305.4	37	c.741	CCDS11118.1	17																																																																																			-	TP53	-	pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	44	44	66	0.00	0.00	G	NM_000546		7577540	-1	14	30	7	15	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	silent	66.67	66.67	SNP	1.000	A	14	7
RP1	6101	genome.wustl.edu	37	8	55540104	55540104	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:55540104C>T	ENST00000220676.1	+	4	3810	c.3662C>T	c.(3661-3663)cCt>cTt	p.P1221L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1221					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGAGTGTTCCTAAGTGCAGT	0.448													ENSG00000104237																									Colon(91;1014 1389 7634 14542 40420)												0													125.0	122.0	123.0					8																	55540104		2203	4300	6503	SO:0001583	missense	0			-	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3662C>T	8.37:g.55540104C>T	ENSP00000220676:p.Pro1221Leu			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.P1221L	ENST00000220676.1	37	c.3662	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	7.143	0.582300	0.13749	.	.	ENSG00000104237	ENST00000220676	T	0.23147	1.92	5.38	3.46	0.39613	.	0.788628	0.11347	N	0.573417	T	0.18759	0.0450	L	0.29908	0.895	0.09310	N	1	B	0.30068	0.267	B	0.28139	0.086	T	0.19063	-1.0317	10	0.87932	D	0	.	7.4285	0.27113	0.3027:0.6172:0.0:0.0801	.	1221	P56715	RP1_HUMAN	L	1221	ENSP00000220676:P1221L	ENSP00000220676:P1221L	P	+	2	0	RP1	55702657	0.000000	0.05858	0.003000	0.11579	0.055000	0.15305	0.001000	0.13038	1.206000	0.43276	0.655000	0.94253	CCT	-	RP1	-	NULL		0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	0	0	0	16	16	86	0.00	0.00	C	NM_006269		55540104	+1	8	39	16	58	tier1	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	33.33	40.21	SNP	0.001	T	8	16
TFRC	7037	genome.wustl.edu	37	3	195785483	195785483	+	Silent	SNP	C	C	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr3:195785483C>A	ENST00000360110.4	-	15	1726	c.1557G>T	c.(1555-1557)ggG>ggT	p.G519G	TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000420415.1_Silent_p.G438G|TFRC_ENST00000392396.3_Silent_p.G519G|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.G237G	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	519					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	ATAGAAATTGCCCAGTAACCG	0.348			T	BCL6	NHL								ENSG00000072274																												Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	0													132.0	130.0	131.0					3																	195785483		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1557G>T	3.37:g.195785483C>A			D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.G519	ENST00000360110.4	37	c.1557	CCDS3312.1	3																																																																																			-	TFRC	-	pfam_Peptidase_M28		0.348	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFRC	HGNC	protein_coding	OTTHUMT00000341346.1	0	0	0	83	83	92	0.00	0.00	C			195785483	-1	34	63	53	93	tier1	no_errors	ENST00000360110	ensembl	human	known	74_37	silent	39.08	40.38	SNP	0.000	A	34	53
KPNA6	23633	genome.wustl.edu	37	1	32625019	32625019	+	Silent	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr1:32625019C>T	ENST00000373625.3	+	6	538	c.445C>T	c.(445-447)Cta>Tta	p.L149L	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Silent_p.L154L|KPNA6_ENST00000537234.1_Silent_p.L146L	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	149	NLS binding site (major). {ECO:0000250}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCCTGGGCTCTAACGAATAT	0.453													ENSG00000025800																																					0													136.0	132.0	134.0					1																	32625019		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.445C>T	1.37:g.32625019C>T			B2RDC7|D3DPP5|Q5VVU3	Silent	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.L154	ENST00000373625.3	37	c.460	CCDS352.1	1																																																																																			-	KP6	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.453	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KP6	HGNC	protein_coding	OTTHUMT00000012527.4	0	0	0	41	41	70	0.00	0.00	C	NM_012316		32625019	+1	14	44	37	58	tier1	no_errors	ENST00000545542	ensembl	human	known	74_37	silent	27.45	43.14	SNP	1.000	T	14	37
JAKMIP1	152789	genome.wustl.edu	37	4	6066655	6066655	+	Silent	SNP	T	T	C			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr4:6066655T>C	ENST00000282924.5	-	9	1868	c.1383A>G	c.(1381-1383)acA>acG	p.T461T	JAKMIP1_ENST00000410077.2_Silent_p.T296T|JAKMIP1_ENST00000409021.3_Silent_p.T461T|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Silent_p.T461T|JAKMIP1_ENST00000409371.3_Silent_p.T276T	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	461	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGTCCTGTCTGTGTTGTAGG	0.512													ENSG00000152969																																					0													191.0	160.0	171.0					4																	6066655		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1383A>G	4.37:g.6066655T>C			A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	NULL	p.T461	ENST00000282924.5	37	c.1383	CCDS3385.1	4																																																																																			-	JAKMIP1	-	NULL		0.512	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	0	0	0	91	91	114	0.00	0.00	T	NM_144720		6066655	-1	25	47	48	73	tier1	no_errors	ENST00000409021	ensembl	human	known	74_37	silent	34.25	38.84	SNP	0.107	C	25	48
CENPE	1062	genome.wustl.edu	37	4	104084678	104084678	+	Silent	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr4:104084678C>T	ENST00000265148.3	-	17	1769	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	560					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAACTAAATTCTTTAAGTTCG	0.299													ENSG00000138778																																					0													64.0	60.0	62.0					4																	104084678		2202	4291	6493	SO:0001819	synonymous_variant	0			-	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1680G>A	4.37:g.104084678C>T			A6NKY9|A8K2U7|Q4LE75	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K560	ENST00000265148.3	37	c.1680	CCDS34042.1	4																																																																																			-	CENPE	-	NULL		0.299	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		0	0	0	43	43	28	0.00	0.00	C			104084678	-1	13	30	42	32	tier1	no_errors	ENST00000265148	ensembl	human	known	74_37	silent	23.64	48.39	SNP	1.000	T	13	42
LTBP2	4053	genome.wustl.edu	37	14	74995277	74995277	+	Silent	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr14:74995277C>T	ENST00000261978.4	-	12	2663	c.2277G>A	c.(2275-2277)agG>agA	p.R759R	LTBP2_ENST00000556690.1_Silent_p.R759R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	759					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCCGCTGCTCCTCTGCCCTT	0.677													ENSG00000119681																																					0													43.0	45.0	44.0					14																	74995277		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2277G>A	14.37:g.74995277C>T			Q99907|Q9NS51	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R759	ENST00000261978.4	37	c.2277	CCDS9831.1	14																																																																																			-	LTBP2	-	NULL		0.677	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	0	0	0	47	47	23	0.00	0.00	C	NM_000428		74995277	-1	25	4	20	15	tier1	no_errors	ENST00000261978	ensembl	human	known	74_37	silent	55.56	21.05	SNP	0.995	T	25	20
PALMD	54873	genome.wustl.edu	37	1	100154947	100154947	+	Silent	SNP	G	G	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr1:100154947G>A	ENST00000263174.4	+	7	1506	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	PALMD_ENST00000605497.1_Silent_p.G377G	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	377					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CAATATTTGGGAAATCTGAAC	0.448													ENSG00000099260																																					0													51.0	46.0	48.0					1																	100154947		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1131G>A	1.37:g.100154947G>A			Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Silent	SNP	pfam_Paralemmin	p.G377	ENST00000263174.4	37	c.1131	CCDS758.1	1																																																																																			-	PALMD	-	NULL		0.448	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALMD	HGNC	protein_coding	OTTHUMT00000029672.1	0	0	0	22	22	48	0.00	0.00	G	NM_017734		100154947	+1	15	53	26	75	tier1	no_errors	ENST00000263174	ensembl	human	known	74_37	silent	36.59	41.41	SNP	0.074	A	15	26
EPS15L1	58513	genome.wustl.edu	37	19	16539564	16539564	+	Missense_Mutation	SNP	G	G	C			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr19:16539564G>C	ENST00000248070.6	-	8	646	c.507C>G	c.(505-507)gaC>gaG	p.D169E	EPS15L1_ENST00000594975.1_Missense_Mutation_p.D169E|EPS15L1_ENST00000535753.2_Missense_Mutation_p.D169E|EPS15L1_ENST00000597937.1_Missense_Mutation_p.D169E|EPS15L1_ENST00000455140.2_Missense_Mutation_p.D169E|EPS15L1_ENST00000602009.1_Missense_Mutation_p.D15E	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	169	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TGTCACTGAGGTCCCAGACCT	0.572													ENSG00000127527																																					0													116.0	69.0	85.0					19																	16539564		2203	4300	6503	SO:0001583	missense	0			-	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.507C>G	19.37:g.16539564G>C	ENSP00000248070:p.Asp169Glu		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.D169E	ENST00000248070.6	37	c.507	CCDS32944.1	19	.	.	.	.	.	.	.	.	.	.	g	2.710	-0.269076	0.05716	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.28255	1.62;1.62;1.62	4.87	1.06	0.20224	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.056264	0.64402	D	0.000002	T	0.17619	0.0423	N	0.26130	0.795	0.41986	D	0.99082	P;B;B;B;B;B	0.35944	0.529;0.017;0.039;0.325;0.175;0.033	B;B;B;B;B;B	0.42851	0.4;0.075;0.058;0.366;0.162;0.036	T	0.19549	-1.0302	10	0.05351	T	0.99	.	4.6985	0.12815	0.3574:0.165:0.4776:0.0	.	169;169;168;169;169;169	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	E	169	ENSP00000393313:D169E;ENSP00000248070:D169E;ENSP00000440103:D169E	ENSP00000248070:D169E	D	-	3	2	EPS15L1	16400564	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.312000	0.33574	0.488000	0.27723	-0.273000	0.10243	GAC	-	EPS15L1	-	smart_EPS15_homology,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology		0.572	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1	0	0	1	54	54	76	0.00	1.30	G	NM_021235		16539564	-1	14	36	20	68	tier1	no_errors	ENST00000455140	ensembl	human	known	74_37	missense	41.18	34.62	SNP	0.999	C	14	20
LRP12	29967	genome.wustl.edu	37	8	105510059	105510059	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:105510059C>T	ENST00000276654.5	-	5	829	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	LRP12_ENST00000424843.2_Missense_Mutation_p.G222R|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	241	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAATGTTCCCATCACATTTT	0.413													ENSG00000147650																																					0													99.0	97.0	97.0					8																	105510059		2203	4300	6503	SO:0001583	missense	0			-	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.721G>A	8.37:g.105510059C>T	ENSP00000276654:p.Gly241Arg		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.G222R	ENST00000276654.5	37	c.664	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549420	0.86127	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.96802	-4.13;-4.13	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97882	0.9304	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98402	1.0568	10	0.72032	D	0.01	-18.9229	19.7554	0.96287	0.0:1.0:0.0:0.0	.	222;241	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	R	222;241	ENSP00000399148:G222R;ENSP00000276654:G241R	ENSP00000276654:G241R	G	-	1	0	LRP12	105579235	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.727000	0.68523	2.665000	0.90641	0.563000	0.77884	GGG	-	LRP12	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt		0.413	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	0	0	0	31	31	89	0.00	0.00	C	NM_013437		105510059	-1	18	57	19	73	tier1	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	48.65	43.51	SNP	1.000	T	18	19
LRTM2	654429	genome.wustl.edu	37	12	1943471	1943471	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr12:1943471G>A	ENST00000543818.1	+	5	1539	c.697G>A	c.(697-699)Gag>Aag	p.E233K	CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.E233K|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.E233K|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	233	LRRCT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCTGCCCAAGGAGCTGAGGGG	0.582													ENSG00000166159																																					0													56.0	51.0	52.0					12																	1943471		2203	4300	6503	SO:0001583	missense	0			-	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.697G>A	12.37:g.1943471G>A	ENSP00000446278:p.Glu233Lys		A7E2U6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E233K	ENST00000543818.1	37	c.697	CCDS31726.1	12	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295373	0.60086	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.52754	0.65;0.65;0.65	5.35	5.35	0.76521	Cysteine-rich flanking region, C-terminal (1);	0.050047	0.85682	D	0.000000	T	0.38268	0.1034	L	0.28344	0.845	0.80722	D	1	B	0.33512	0.415	B	0.34301	0.179	T	0.13335	-1.0513	10	0.19147	T	0.46	.	19.0625	0.93099	0.0:0.0:1.0:0.0	.	233	Q8N967	LRTM2_HUMAN	K	233	ENSP00000446278:E233K;ENSP00000299194:E233K;ENSP00000444737:E233K	ENSP00000299194:E233K	E	+	1	0	LRTM2	1813732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.497000	0.84241	0.563000	0.77884	GAG	-	LRTM2	-	smart_Cys-rich_flank_reg_C		0.582	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	0	0	0	60	60	60	0.00	0.00	G			1943471	+1	19	24	24	35	tier1	no_errors	ENST00000299194	ensembl	human	known	74_37	missense	44.19	40.68	SNP	1.000	A	19	24
CNTNAP5	129684	genome.wustl.edu	37	2	124999804	124999804	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:124999804C>A	ENST00000431078.1	+	3	579	c.215C>A	c.(214-216)tCc>tAc	p.S72Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	72	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCAGCAGATTCCAATGCTCAA	0.493													ENSG00000155052																																					0													45.0	47.0	46.0					2																	124999804		1976	4156	6132	SO:0001583	missense	0			-	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.215C>A	2.37:g.124999804C>A	ENSP00000399013:p.Ser72Tyr		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S72Y	ENST00000431078.1	37	c.215	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.083084	0.94050	.	.	ENSG00000155052	ENST00000431078	D	0.97598	-4.45	5.71	5.71	0.89125	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.50627	D	0.000108	D	0.98661	0.9551	M	0.87269	2.87	0.58432	D	0.999997	D	0.76494	0.999	D	0.87578	0.998	D	0.99577	1.0972	10	0.87932	D	0	.	18.8368	0.92165	0.0:1.0:0.0:0.0	.	72	Q8WYK1	CNTP5_HUMAN	Y	72	ENSP00000399013:S72Y	ENSP00000399013:S72Y	S	+	2	0	CNTNAP5	124716274	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.660000	0.83776	2.696000	0.92011	0.650000	0.86243	TCC	-	CNTP5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTP5	HGNC	protein_coding	OTTHUMT00000330864.3	0	0	0	31	31	39	0.00	0.00	C			124999804	+1	31	25	28	58	tier1	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	52.54	30.12	SNP	1.000	A	31	28
DIS3L2	129563	genome.wustl.edu	37	2	233127950	233127950	+	Missense_Mutation	SNP	C	C	T	rs376340398		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:233127950C>T	ENST00000409307.1	+	12	1459	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	DIS3L2_ENST00000325385.7_Missense_Mutation_p.R487C|DIS3L2_ENST00000273009.6_Missense_Mutation_p.R487C					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GACCATCATCCGCTCCTGCAC	0.478													ENSG00000144535																																					0								C	CYS/ARG	0,3904		0,0,1952	64.0	66.0	65.0		1459	0.0	1.0	2		65	1,8315		0,1,4157	no	missense	DIS3L2	NM_152383.4	180	0,1,6109	TT,TC,CC		0.012,0.0,0.0082	possibly-damaging	487/886	233127950	1,12219	1952	4158	6110	SO:0001583	missense	0			-	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1459C>T	2.37:g.233127950C>T	ENSP00000386799:p.Arg487Cys			Missense_Mutation	SNP	NULL	p.R487C	ENST00000409307.1	37	c.1459	CCDS42834.1	2	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331605	0.24167	0.0	1.2E-4	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.04	0.0283	0.14158	Ribonuclease II/R (2);	0.501057	0.25045	N	0.033564	T	0.37571	0.1008	L	0.50847	1.595	0.80722	D	1	B	0.31153	0.31	B	0.36418	0.224	T	0.23332	-1.0191	10	0.44086	T	0.13	-0.2189	11.7101	0.51620	0.0:0.5891:0.0:0.4109	.	487	Q8IYB7	DI3L2_HUMAN	C	487;487;487;487;487;122	ENSP00000273009:R487C;ENSP00000315569:R487C;ENSP00000386799:R487C;ENSP00000415419:R122C	ENSP00000273009:R487C	R	+	1	0	DIS3L2	232836194	0.889000	0.30405	0.972000	0.41901	0.656000	0.38851	0.076000	0.14712	0.009000	0.14813	-1.929000	0.00512	CGC	-	DIS3L2	-	NULL		0.478	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	0	0	0	34	34	57	0.00	0.00	C	NM_152383		233127950	+1	17	12	24	43	tier1	no_errors	ENST00000325385	ensembl	human	known	74_37	missense	41.46	21.82	SNP	0.946	T	17	24
KIAA1551	55196	genome.wustl.edu	37	12	32134974	32134974	+	Missense_Mutation	SNP	A	A	C			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr12:32134974A>C	ENST00000312561.4	+	4	1499	c.1085A>C	c.(1084-1086)cAg>cCg	p.Q362P	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	362																	GATGGTGTTCAGACTCTTGCT	0.363													ENSG00000174718																																					0													75.0	77.0	76.0					12																	32134974		2203	4300	6503	SO:0001583	missense	0			-	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.1085A>C	12.37:g.32134974A>C	ENSP00000310338:p.Gln362Pro		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.Q362P	ENST00000312561.4	37	c.1085	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623571	0.46840	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.08546	3.71;3.08	4.93	-0.463	0.12164	.	0.811426	0.10879	N	0.623979	T	0.05547	0.0146	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.42899	-0.9424	9	.	.	.	.	2.4012	0.04401	0.4798:0.2932:0.0849:0.1421	.	362	Q9HCM1	CL035_HUMAN	P	362	ENSP00000310338:Q362P;ENSP00000370442:Q362P	.	Q	+	2	0	C12orf35	32026241	0.028000	0.19301	0.281000	0.24762	0.013000	0.08279	0.675000	0.25232	0.319000	0.23209	0.454000	0.30748	CAG	-	KIAA1551	-	NULL		0.363	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	0	0	1	51	51	70	0.00	1.41	A	NM_018169		32134974	+1	22	39	44	71	tier1	no_errors	ENST00000312561	ensembl	human	known	74_37	missense	33.33	35.14	SNP	0.000	C	22	44
PRPF40B	25766	genome.wustl.edu	37	12	50036073	50036074	+	Missense_Mutation	DNP	GG	GG	AA	rs148666758		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr12:50036073_50036074GG>AA	ENST00000380281.1	+	19	1938_1939	c.1874_1875GG>AA	c.(1873-1875)aGG>aAA	p.R625K	PRPF40B_ENST00000548825.2_Missense_Mutation_p.R647K|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R612K|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	625	FF 6.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GAGGCACGCAGGATGCGGCGCA	0.639													ENSG00000110844																																					0																																										SO:0001583	missense	0			-	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		Exception_encountered	12.37:g.50036073_50036074delinsAA	ENSP00000369634:p.Arg625Lys		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation|Silent	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.R647K|p.R647	ENST00000380281.1	37	c.1940|c.1941		12																																																																																			-|rs148666758	PRPF40B	-	NULL		0.639	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	0	0	0	9	9	29	0.00	0.00	G	NM_012272		50036073|50036074	+1	4	9	9	24|23	tier1	no_errors	ENST00000548825	ensembl	human	known	74_37	missense|silent	30.77	27.27|28.12	SNP	1.000	A	4	9
Unknown	0	genome.wustl.edu	37	22	49834816	49834816	+	IGR	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr22:49834816C>T								C22orf34 (15730 upstream) : MIR3667 (102224 downstream)																							gacgttgtctCTGTAAGGCTT	0.587													ENSG00000188511																																					0																																										SO:0001628	intergenic_variant	0			-																													22.37:g.49834816C>T				Missense_Mutation	SNP	NULL	p.R34K		37	c.101		22																																																																																			-	C22orf34	-	NULL	0	0.587					C22orf34	HGNC			0	0	0	47	47	72	0.00	0.00	C			49834816	-1	15	13	18	24	tier1	no_errors	ENST00000414287	ensembl	human	known	74_37	missense	45.45	35.14	SNP	0.000	T	15	18
ACAN	176	genome.wustl.edu	37	15	89398253	89398253	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr15:89398253C>T	ENST00000561243.1	+	11	2437	c.2437C>T	c.(2437-2439)Ccc>Tcc	p.P813S	ACAN_ENST00000439576.2_Missense_Mutation_p.P813S|ACAN_ENST00000559004.1_Missense_Mutation_p.P813S|ACAN_ENST00000352105.7_Missense_Mutation_p.P813S			P16112	PGCA_HUMAN	aggrecan	812	12 X 6 AA approximate tandem repeats of E-[GVE]-P-[SFY]-[APT]-[TSP].|KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGCCATTCCCCTCAGTGGA	0.607													ENSG00000157766																																					0													31.0	35.0	34.0					15																	89398253		1957	4151	6108	SO:0001583	missense	0			-	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2437C>T	15.37:g.89398253C>T	ENSP00000453342:p.Pro813Ser		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.P813S	ENST00000561243.1	37	c.2437	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	C	0.371	-0.933823	0.02340	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02121	4.68;4.44	2.6	1.48	0.22813	.	.	.	.	.	T	0.01287	0.0042	N	0.14661	0.345	0.09310	N	1	B;B	0.33694	0.421;0.421	B;B	0.24701	0.055;0.055	T	0.46428	-0.9192	9	0.11794	T	0.64	.	8.6156	0.33829	0.0:0.7605:0.2395:0.0	.	813;813	E7ENV9;E7EX88	.;.	S	813	ENSP00000387356:P813S;ENSP00000341615:P813S	ENSP00000268134:P813S	P	+	1	0	ACAN	87199257	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-1.176000	0.03099	1.388000	0.46506	0.313000	0.20887	CCC	-	ACAN	-	NULL		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	0	0	0	55	55	87	0.00	0.00	C	NM_001135		89398253	+1	32	36	47	55	tier1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	40.51	39.56	SNP	0.039	T	32	47
LRP12	29967	genome.wustl.edu	37	8	105510058	105510058	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:105510058C>T	ENST00000276654.5	-	5	830	c.722G>A	c.(721-723)gGg>gAg	p.G241E	LRP12_ENST00000424843.2_Missense_Mutation_p.G222E|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	241	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTCAATGTTCCCATCACATTT	0.413													ENSG00000147650																																					0													98.0	96.0	97.0					8																	105510058		2203	4300	6503	SO:0001583	missense	0			-	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.722G>A	8.37:g.105510058C>T	ENSP00000276654:p.Gly241Glu		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.G222E	ENST00000276654.5	37	c.665	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385989	0.82902	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.96716	-4.1;-4.1	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98834	1.0752	10	0.72032	D	0.01	-18.9229	19.7554	0.96287	0.0:1.0:0.0:0.0	.	222;241	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	E	222;241	ENSP00000399148:G222E;ENSP00000276654:G241E	ENSP00000276654:G241E	G	-	2	0	LRP12	105579234	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.456000	0.80751	2.665000	0.90641	0.563000	0.77884	GGG	-	LRP12	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt		0.413	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	0	0	0	32	32	87	0.00	0.00	C	NM_013437		105510058	-1	17	56	19	74	tier1	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	47.22	43.08	SNP	1.000	T	17	19
KIAA1549L	25758	genome.wustl.edu	37	11	33628349	33628349	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr11:33628349C>T	ENST00000321505.4	+	13	4331	c.4151C>T	c.(4150-4152)tCg>tTg	p.S1384L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S1390L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1384						integral component of membrane (GO:0016021)											CAGGAGTCATCGGCAGTCCTC	0.582													ENSG00000110427																																					0													23.0	26.0	25.0					11																	33628349		2042	4202	6244	SO:0001583	missense	0			-	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4151C>T	11.37:g.33628349C>T	ENSP00000315295:p.Ser1384Leu		B0QYU0	Missense_Mutation	SNP	NULL	p.S1390L	ENST00000321505.4	37	c.4169	CCDS44565.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.73|13.73	2.323354|2.323354	0.41096|0.41096	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000536568	.|.	.|.	.|.	5.43|5.43	4.52|4.52	0.55395|0.55395	.|.	.|0.441755	.|0.25192	.|N	.|0.032448	T|T	0.41465|0.41465	0.1160|0.1160	M|M	0.64997|0.64997	1.995|1.995	0.28711|0.28711	N|N	0.903531|0.903531	.|B	.|0.32604	.|0.377	.|B	.|0.21151	.|0.033	T|T	0.48364|0.48364	-0.9042|-0.9042	5|9	.|0.72032	.|D	.|0.01	0.2235|0.2235	10.4633|10.4633	0.44592|0.44592	0.0:0.8511:0.0:0.1489|0.0:0.8511:0.0:0.1489	.|.	.|1390	.|E9PAT2	.|.	W|L	782|1384;1390;1223	.|.	.|ENSP00000315295:S1384L	R|S	+|+	1|2	2|0	C11orf41|C11orf41	33584925|33584925	0.827000|0.827000	0.29292|0.29292	0.138000|0.138000	0.22173|0.22173	0.492000|0.492000	0.33523|0.33523	4.091000|4.091000	0.57700|0.57700	1.294000|1.294000	0.44707|0.44707	0.561000|0.561000	0.74099|0.74099	CGG|TCG	-	KIAA1549L	-	NULL		0.582	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	0	0	0	35	35	32	0.00	0.00	C	NM_012194		33628349	+1	7	6	41	34	tier1	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	14.58	15.00	SNP	0.868	T	7	41
PLXNB2	23654	genome.wustl.edu	37	22	50717058	50717058	+	Silent	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr22:50717058C>T	ENST00000449103.1	-	29	4754	c.4614G>A	c.(4612-4614)cgG>cgA	p.R1538R	PLXNB2_ENST00000359337.4_Silent_p.R1538R			O15031	PLXB2_HUMAN	plexin B2	1538					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCGCTTCCACCGGCCCTCCC	0.677													ENSG00000196576																																					0													37.0	42.0	40.0					22																	50717058		2095	4206	6301	SO:0001819	synonymous_variant	0			-		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4614G>A	22.37:g.50717058C>T			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1538	ENST00000449103.1	37	c.4614	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	9.274	1.046413	0.19748	.	.	ENSG00000196576	ENST00000399991;ENST00000399964	.	.	.	4.48	-4.85	0.03142	.	.	.	.	.	T	0.48874	0.1524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51529	-0.8694	5	0.33940	T	0.23	.	5.4536	0.16578	0.0964:0.3461:0.4116:0.146	.	.	.	.	M	10;170	.	ENSP00000382845:V170M	V	-	1	0	PLXNB2	49059185	0.027000	0.19231	0.986000	0.45419	0.707000	0.40811	-0.947000	0.03901	-0.435000	0.07264	-0.258000	0.10820	GTG	-	PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.677	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	0	0	0	66	66	65	0.00	0.00	C	NM_012401		50717058	-1	21	18	27	31	tier1	no_errors	ENST00000359337	ensembl	human	known	74_37	silent	43.75	36.73	SNP	0.909	T	21	27
ANGPT4	51378	genome.wustl.edu	37	20	853735	853735	+	Silent	SNP	T	T	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr20:853735T>A	ENST00000381922.3	-	9	1482	c.1380A>T	c.(1378-1380)tcA>tcT	p.S460S	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	460	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CGTTGAGGTTTGACAGGCCAC	0.622													ENSG00000101280																									Pancreas(181;481 2077 3259 31286 49856)												0													74.0	67.0	69.0					20																	853735		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1380A>T	20.37:g.853735T>A			B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.S460	ENST00000381922.3	37	c.1380	CCDS13009.1	20																																																																																			-	ANGPT4	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.622	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	0	0	0	27	27	48	0.00	0.00	T	NM_015985		853735	-1	11	27	18	27	tier1	no_errors	ENST00000381922	ensembl	human	known	74_37	silent	37.93	50.00	SNP	1.000	A	11	18
TG	7038	genome.wustl.edu	37	8	133931621	133931621	+	Splice_Site	SNP	T	T	G			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:133931621T>G	ENST00000220616.4	+	21	4419	c.4379T>G	c.(4378-4380)gTt>gGt	p.V1460G	TG_ENST00000542445.1_5'Flank|TG_ENST00000377869.1_Splice_Site_p.V1460G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1460					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTTTTCTAGTTAAGTGTCCT	0.418													ENSG00000042832																																					0													74.0	68.0	70.0					8																	133931621		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4379-1T>G	8.37:g.133931621T>G			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.V1460G	ENST00000220616.4	37	c.4379	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184901	0.38609	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	D;D	0.97959	-4.63;-4.45	5.52	4.36	0.52297	.	1.705140	0.03205	N	0.175360	D	0.98554	0.9517	M	0.74881	2.28	0.58432	D	0.999993	D	0.89917	1.0	D	0.69307	0.963	D	0.91991	0.5603	9	.	.	.	.	8.5718	0.33574	0.0:0.0882:0.0:0.9118	.	1460	P01266	THYG_HUMAN	G	1460;266;1460	ENSP00000367100:V1460G;ENSP00000220616:V1460G	.	V	+	2	0	TG	134000803	0.998000	0.40836	0.740000	0.30986	0.213000	0.24496	3.531000	0.53546	1.026000	0.39733	-0.290000	0.09829	GTT	-	TG	-	pirsf_Thyroglobulin		0.418	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	0	0	0	34	34	58	0.00	0.00	T	NM_003235	Missense_Mutation	133931621	+1	22	29	27	30	tier1	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	44.90	49.15	SNP	0.945	G	22	27
DOCK7	85440	genome.wustl.edu	37	1	63113413	63113413	+	Missense_Mutation	SNP	A	A	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr1:63113413A>T	ENST00000340370.5	-	7	784	c.767T>A	c.(766-768)aTa>aAa	p.I256K	DOCK7_ENST00000404627.2_Missense_Mutation_p.I256K|DOCK7_ENST00000251157.5_Missense_Mutation_p.I256K	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	256					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTCTTTGGGTATATCAGGAAC	0.303													ENSG00000116641																																					0													130.0	145.0	140.0					1																	63113413		2203	4296	6499	SO:0001583	missense	0			-		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.767T>A	1.37:g.63113413A>T	ENSP00000340742:p.Ile256Lys		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.I256K	ENST00000340370.5	37	c.767	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070342	0.55539	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.16324	2.35;2.35;2.35	5.17	4.04	0.47022	.	0.376195	0.29715	N	0.011391	T	0.09024	0.0223	L	0.55213	1.73	0.38609	D	0.950842	B;B;B;B;B	0.25850	0.136;0.039;0.01;0.001;0.0	B;B;B;B;B	0.33121	0.091;0.158;0.071;0.018;0.002	T	0.05194	-1.0900	10	0.32370	T	0.25	.	10.7896	0.46426	0.9259:0.0:0.0741:0.0	.	256;256;256;256;256	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	K	256	ENSP00000251157:I256K;ENSP00000340742:I256K;ENSP00000384446:I256K	ENSP00000251157:I256K	I	-	2	0	DOCK7	62886001	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	6.107000	0.71517	0.976000	0.38417	0.460000	0.39030	ATA	-	DOCK7	-	NULL		0.303	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	0	0	0	114	114	61	0.00	0.00	A	NM_033407		63113413	-1	43	32	80	79	tier1	no_errors	ENST00000251157	ensembl	human	known	74_37	missense	34.96	28.83	SNP	1.000	T	43	80
PIWIL2	55124	genome.wustl.edu	37	8	22145080	22145080	+	Silent	SNP	G	G	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:22145080G>A	ENST00000454009.2	+	7	1292	c.783G>A	c.(781-783)ttG>ttA	p.L261L	PIWIL2_ENST00000356766.6_Silent_p.L261L|PIWIL2_ENST00000521356.1_Silent_p.L261L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	261					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCGGCATGTTGAAGGACCATC	0.443											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000197181																																					0													176.0	139.0	152.0					8																	22145080		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.783G>A	8.37:g.22145080G>A		753	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.L261	ENST00000454009.2	37	c.783	CCDS6029.1	8																																																																																			-	PIWIL2	-	superfamily_PAZ_dom		0.443	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	0	0	0	60	60	107	0.00	0.00	G			22145080	+1	19	39	32	51	tier1	no_errors	ENST00000356766	ensembl	human	known	74_37	silent	37.25	43.33	SNP	1.000	A	19	32
ZNF552	79818	genome.wustl.edu	37	19	58325967	58325967	+	Intron	SNP	G	G	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr19:58325967G>A	ENST00000391701.1	-	1	203				ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_3'UTR	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GCGCCTCAGTGTCCCGACGCC	0.652													ENSG00000178935																																					0																																										SO:0001627	intron_variant	0			-	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.33+111C>T	19.37:g.58325967G>A			B3KUE9|Q6P5A6	Missense_Mutation	SNP	NULL	p.H49Y	ENST00000391701.1	37	c.145	CCDS12963.1	19																																																																																			-	ZNF552	-	NULL		0.652	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF552	HGNC	protein_coding	OTTHUMT00000466829.1	0	0	0	61	61	24	0.00	0.00	G	NM_024762		58325967	-1	6	10	19	10	tier1	no_errors	ENST00000596248	ensembl	human	known	74_37	missense	24.00	50.00	SNP	0.000	A	6	19
DIS3L2	129563	genome.wustl.edu	37	2	233127949	233127949	+	Missense_Mutation	SNP	C	C	G			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:233127949C>G	ENST00000409307.1	+	12	1458	c.1458C>G	c.(1456-1458)atC>atG	p.I486M	DIS3L2_ENST00000325385.7_Missense_Mutation_p.I486M|DIS3L2_ENST00000273009.6_Missense_Mutation_p.I486M					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGACCATCATCCGCTCCTGCA	0.483													ENSG00000144535																																					0													63.0	66.0	65.0					2																	233127949		1952	4158	6110	SO:0001583	missense	0			-	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1458C>G	2.37:g.233127949C>G	ENSP00000386799:p.Ile486Met			Missense_Mutation	SNP	NULL	p.I486M	ENST00000409307.1	37	c.1458	CCDS42834.1	2	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894942	0.52121	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.04	-0.172	0.13327	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66388	-0.5936	10	0.87932	D	0	-15.3324	10.3828	0.44121	0.0:0.6396:0.0:0.3604	.	486	Q8IYB7	DI3L2_HUMAN	M	486;486;486;486;486;121	ENSP00000273009:I486M;ENSP00000315569:I486M;ENSP00000386799:I486M;ENSP00000415419:I121M	ENSP00000273009:I486M	I	+	3	3	DIS3L2	232836193	0.945000	0.32115	0.973000	0.42090	0.724000	0.41520	1.153000	0.31676	-0.023000	0.13963	0.650000	0.86243	ATC	-	DIS3L2	-	NULL		0.483	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	0	0	0	33	33	57	0.00	0.00	C	NM_152383		233127949	+1	17	12	23	43	tier1	no_errors	ENST00000325385	ensembl	human	known	74_37	missense	42.50	21.82	SNP	0.957	G	17	23
PLCE1	51196	genome.wustl.edu	37	10	96014797	96014797	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr10:96014797G>A	ENST00000371380.3	+	10	3780	c.3545G>A	c.(3544-3546)aGc>aAc	p.S1182N	PLCE1_ENST00000371385.3_Missense_Mutation_p.S874N|PLCE1_ENST00000260766.3_Missense_Mutation_p.S1182N|PLCE1_ENST00000371375.1_Missense_Mutation_p.S874N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1182					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCAAACAAGAGCCCATCCAGG	0.517													ENSG00000138193																																					0													90.0	88.0	89.0					10																	96014797		1907	4125	6032	SO:0001583	missense	0			-		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3545G>A	10.37:g.96014797G>A	ENSP00000360431:p.Ser1182Asn		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.S1182N	ENST00000371380.3	37	c.3545	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902030	0.52227	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.24538	1.85;1.85;1.86;1.86	5.71	4.81	0.61882	.	0.202557	0.45126	D	0.000393	T	0.19685	0.0473	L	0.36672	1.1	0.24171	N	0.995628	B;B	0.14438	0.01;0.006	B;B	0.13407	0.009;0.005	T	0.07385	-1.0775	10	0.39692	T	0.17	.	9.771	0.40589	0.0731:0.1412:0.7857:0.0	.	874;1182	Q9P212-2;Q9P212	.;PLCE1_HUMAN	N	1182;1182;874;874	ENSP00000260766:S1182N;ENSP00000360431:S1182N;ENSP00000360438:S874N;ENSP00000360426:S874N	ENSP00000260766:S1182N	S	+	2	0	PLCE1	96004787	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.869000	0.39519	2.695000	0.91970	0.650000	0.86243	AGC	-	PLCE1	-	NULL		0.517	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	0	0	0	19	19	69	0.00	0.00	G	NM_016341		96014797	+1	7	45	6	13	tier1	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	53.85	77.59	SNP	1.000	A	7	6
PCDHA4	56144	genome.wustl.edu	37	5	140187574	140187574	+	Missense_Mutation	SNP	G	G	C			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr5:140187574G>C	ENST00000530339.1	+	1	802	c.802G>C	c.(802-804)Gat>Cat	p.D268H	PCDHA4_ENST00000356878.4_Missense_Mutation_p.D268H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D268H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACGCCTCAGATTTAGACGA	0.358													ENSG00000204967																																					0													60.0	64.0	63.0					5																	140187574		2203	4300	6503	SO:0001583	missense	0			-	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.802G>C	5.37:g.140187574G>C	ENSP00000435300:p.Asp268His		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D268H	ENST00000530339.1	37	c.802	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	19.29	3.798540	0.70567	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.75154	-0.91;-0.91;-0.91	4.34	4.34	0.51931	Cadherin (5);Cadherin-like (1);	0.000000	0.41938	U	0.000793	D	0.92502	0.7619	H	0.99590	4.645	0.48288	D	0.999628	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96175	0.9126	10	0.87932	D	0	.	17.2044	0.86914	0.0:0.0:1.0:0.0	.	268;268;268	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	H	268	ENSP00000423470:D268H;ENSP00000349344:D268H;ENSP00000435300:D268H	ENSP00000349344:D268H	D	+	1	0	PCDHA4	140167758	1.000000	0.71417	0.970000	0.41538	0.990000	0.78478	9.420000	0.97426	2.137000	0.66172	0.467000	0.42956	GAT	-	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.358	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	0	0	0	74	74	117	0.00	0.00	G	NM_018907		140187574	+1	21	31	23	62	tier1	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	47.73	33.33	SNP	1.000	C	21	23
PCDHA4	56144	genome.wustl.edu	37	5	140187703	140187703	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr5:140187703G>A	ENST00000530339.1	+	1	931	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PCDHA4_ENST00000356878.4_Missense_Mutation_p.E311K|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E311K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	311	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTGACTTTGAAGAAAGCAA	0.343													ENSG00000204967																																					0													97.0	104.0	102.0					5																	140187703		2203	4300	6503	SO:0001583	missense	0			-	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.931G>A	5.37:g.140187703G>A	ENSP00000435300:p.Glu311Lys		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E311K	ENST00000530339.1	37	c.931	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	24.2	4.510268	0.85282	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.72394	-0.65;-0.65;-0.65	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.41823	U	0.000818	D	0.89494	0.6731	H	0.97051	3.93	0.42720	D	0.993677	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	D	0.93672	0.6991	10	0.87932	D	0	.	17.2044	0.86914	0.0:0.0:1.0:0.0	.	311;311;311	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	K	311	ENSP00000423470:E311K;ENSP00000349344:E311K;ENSP00000435300:E311K	ENSP00000349344:E311K	E	+	1	0	PCDHA4	140167887	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.599000	0.82757	2.137000	0.66172	0.467000	0.42956	GAA	-	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.343	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	0	0	0	133	133	151	0.00	0.00	G	NM_018907		140187703	+1	30	30	31	84	tier1	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	49.18	26.32	SNP	1.000	A	30	31
OTOF	9381	genome.wustl.edu	37	2	26707374	26707374	+	Missense_Mutation	SNP	C	C	G	rs483353050		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:26707374C>G	ENST00000272371.2	-	12	1299	c.1173G>C	c.(1171-1173)aaG>aaC	p.K391N	OTOF_ENST00000403946.3_Missense_Mutation_p.K391N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	391					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCATTGGCCTTGTGGGGCG	0.627													ENSG00000115155																									GBM(102;732 1451 20652 24062 31372)												0													176.0	138.0	151.0					2																	26707374		2203	4300	6503	SO:0001583	missense	0			-	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1173G>C	2.37:g.26707374C>G	ENSP00000272371:p.Lys391Asn		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.K391N	ENST00000272371.2	37	c.1173	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578979	0.65878	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.81247	-1.47;-1.47	4.84	4.84	0.62591	FerIin domain (1);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.88570	2.965	0.51233	D	0.999911	D	0.89917	1.0	D	0.87578	0.998	D	0.88234	0.2905	10	0.37606	T	0.19	-28.1837	7.5876	0.28002	0.0:0.8163:0.0:0.1837	.	391	Q9HC10	OTOF_HUMAN	N	391	ENSP00000272371:K391N;ENSP00000385255:K391N	ENSP00000272371:K391N	K	-	3	2	OTOF	26560878	0.989000	0.36119	1.000000	0.80357	0.958000	0.62258	0.285000	0.18883	2.243000	0.73865	0.462000	0.41574	AAG	-	OTOF	-	pfam_FerIin-domain		0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	0	0	0	54	54	72	0.00	0.00	C			26707374	-1	24	33	4	29	tier1	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	85.71	53.23	SNP	1.000	G	24	4
THAP4	51078	genome.wustl.edu	37	2	242573427	242573427	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr2:242573427G>T	ENST00000407315.1	-	2	576	c.145C>A	c.(145-147)Ccc>Acc	p.P49T		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	49							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TACTTAGTGGGAGTCCAGTTA	0.463													ENSG00000176946																																					0													90.0	102.0	98.0					2																	242573427		2203	4296	6499	SO:0001583	missense	0			-	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.145C>A	2.37:g.242573427G>T	ENSP00000385006:p.Pro49Thr		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.P49T	ENST00000407315.1	37	c.145	CCDS2551.1	2	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898568	0.72639	.	.	ENSG00000176946	ENST00000407315	D	0.96427	-4.01	4.93	4.93	0.64822	Zinc finger, C2CH-type (4);	0.067900	0.56097	D	0.000023	D	0.98523	0.9507	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99686	1.1000	10	0.87932	D	0	-32.1135	16.7001	0.85346	0.0:0.0:1.0:0.0	.	49	Q8WY91	THAP4_HUMAN	T	49	ENSP00000385006:P49T	ENSP00000385006:P49T	P	-	1	0	THAP4	242222100	1.000000	0.71417	0.919000	0.36401	0.993000	0.82548	5.668000	0.68074	2.431000	0.82371	0.655000	0.94253	CCC	-	THAP4	-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH		0.463	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3	0	0	0	122	122	158	0.00	0.00	G	NM_015963		242573427	-1	23	43	32	78	tier1	no_errors	ENST00000407315	ensembl	human	known	74_37	missense	41.82	35.54	SNP	0.994	T	23	32
KRTAP13-1	140258	genome.wustl.edu	37	21	31768501	31768501	+	Missense_Mutation	SNP	A	A	C			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr21:31768501A>C	ENST00000355459.2	+	1	110	c.97A>C	c.(97-99)Aac>Cac	p.N33H		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	33						intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTACCCCAGCAACCAGGTCTA	0.597													ENSG00000198390																																					0													121.0	114.0	117.0					21																	31768501		2203	4300	6503	SO:0001583	missense	0			-	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.97A>C	21.37:g.31768501A>C	ENSP00000347635:p.Asn33His		Q14D20|Q3LI79	Missense_Mutation	SNP	pfam_KRTAP_PMG	p.N33H	ENST00000355459.2	37	c.97	CCDS13590.2	21	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828601	0.16749	.	.	ENSG00000198390	ENST00000355459	T	0.03468	3.92	4.33	0.482	0.16815	.	0.303544	0.22540	N	0.058727	T	0.05410	0.0143	M	0.75447	2.3	0.09310	N	1	P	0.34639	0.461	B	0.38264	0.269	T	0.27088	-1.0084	10	0.59425	D	0.04	.	2.085	0.03644	0.3844:0.3722:0.0951:0.1483	.	33	Q8IUC0	KR131_HUMAN	H	33	ENSP00000347635:N33H	ENSP00000347635:N33H	N	+	1	0	KRTAP13-1	30690372	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.028000	0.13644	0.074000	0.16767	0.528000	0.53228	AAC	-	KRTAP13-1	-	pfam_KRTAP_PMG		0.597	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-1	HGNC	protein_coding	OTTHUMT00000128252.3	0	0	0	27	27	24	0.00	0.00	A			31768501	+1	16	12	23	24	tier1	no_errors	ENST00000355459	ensembl	human	known	74_37	missense	41.03	33.33	SNP	0.004	C	16	23
LIPA	3988	genome.wustl.edu	37	10	90988006	90988006	+	Missense_Mutation	SNP	G	G	A	rs140686447		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr10:90988006G>A	ENST00000336233.5	-	4	701	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	LIPA_ENST00000371837.1_Missense_Mutation_p.R71W|LIPA_ENST00000456827.1_Missense_Mutation_p.R127W			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	127					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TTATGTTTCCGAGACCAGGTA	0.438													ENSG00000107798																																					0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	134.0	123.0	127.0		379,379	4.3	1.0	10	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LIPA	NM_000235.2,NM_001127605.1	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	127/400,127/400	90988006	1,13005	2203	4300	6503	SO:0001583	missense	0			-	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.379C>T	10.37:g.90988006G>A	ENSP00000337354:p.Arg127Trp		B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase	p.R127W	ENST00000336233.5	37	c.379	CCDS7401.1	10	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406683	0.62399	0.0	1.16E-4	ENSG00000107798	ENST00000336233;ENST00000371837;ENST00000371829;ENST00000541980;ENST00000354621;ENST00000456827;ENST00000425287;ENST00000542307;ENST00000428800;ENST00000282673	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	4.31	4.31	0.51392	Alpha/beta hydrolase fold-1 (1);	0.122932	0.50627	D	0.000102	D	0.84831	0.5559	H	0.98048	4.135	0.39774	D	0.972201	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.994;0.995	D	0.88690	0.3208	10	0.87932	D	0	-18.1139	10.2158	0.43168	0.0:0.0:0.6999:0.3001	.	122;71;127	E7EUT7;P38571-2;P38571	.;.;LICH_HUMAN	W	127;71;127;127;85;127;122;127;127;127	ENSP00000337354:R127W;ENSP00000360903:R71W;ENSP00000413019:R127W;ENSP00000388415:R127W;ENSP00000282673:R127W	ENSP00000282673:R127W	R	-	1	2	LIPA	90977986	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.698000	0.37794	2.675000	0.91044	0.655000	0.94253	CGG	rs140686447	LIPA	-	pfam_AB_hydrolase_1		0.438	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPA	HGNC	protein_coding	OTTHUMT00000049308.1	0	0	0	48	48	54	0.00	0.00	G	NM_000235		90988006	-1	26	35	7	22	tier1	no_errors	ENST00000336233	ensembl	human	known	74_37	missense	78.79	61.40	SNP	1.000	A	26	7
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	rs121912651	TP53	-	pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	44	44	68	0.00	0.00	G	NM_000546		7577539	-1	16	31	5	14	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	76.19	67.39	SNP	1.000	A	16	5
XIST	7503	genome.wustl.edu	37	X	73071846	73071846	+	lincRNA	DEL	A	A	-	rs200290800		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chrX:73071846delA	ENST00000429829.1	-	0	742					NR_001564.2				X inactive specific transcript (non-protein coding)																		ATGGGCGATGAAAAAAAAAAA	0.413													ENSG00000229807																																					0													25.0	25.0	25.0					X																	73071846		876	1990	2866			0				M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071846delA				R	DEL	-	NULL	ENST00000429829.1	37	NULL		X																																																																																				XIST	-	-		0.413	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	0	0	0	78	78	20	0.00	0.00	A	NR_001564		73071846	-1	7	3	54	24	tier1	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	11.48	11.11	DEL	0.001	-	7	54
EFCAB6	64800	genome.wustl.edu	37	22	43972249	43972249	+	Frame_Shift_Del	DEL	T	T	-	rs573721779		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr22:43972249delT	ENST00000262726.7	-	26	3601	c.3348delA	c.(3346-3348)aaafs	p.K1116fs	EFCAB6_ENST00000396231.2_Frame_Shift_Del_p.K964fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GAATTCTTAGTTTCCTCAAAA	0.353													ENSG00000186976																																					0													56.0	61.0	59.0					22																	43972249		2203	4297	6500	SO:0001589	frameshift_variant	0				Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3348delA	22.37:g.43972249delT	ENSP00000262726:p.Lys1116fs		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Frame_Shift_Del	DEL	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.K1116fs	ENST00000262726.7	37	c.3348	CCDS14049.1	22																																																																																				EFCAB6	-	NULL		0.353	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	0	0	0	66	66	53	0.00	0.00	T	NM_022785		43972249	-1	25	30	59	58	tier1	no_errors	ENST00000262726	ensembl	human	known	74_37	frame_shift_del	29.76	34.09	DEL	0.144	-	25	59
MAGEE2	139599	genome.wustl.edu	37	X	75004715	75004715	+	Missense_Mutation	SNP	T	T	G			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chrX:75004715T>G	ENST00000373359.2	-	1	364	c.172A>C	c.(172-174)Act>Cct	p.T58P		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	58										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCTGGGAAGTGTTGACACAC	0.587													ENSG00000186675																																					0													40.0	36.0	38.0					X																	75004715		2203	4300	6503	SO:0001583	missense	0			-	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.172A>C	X.37:g.75004715T>G	ENSP00000362457:p.Thr58Pro		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.T58P	ENST00000373359.2	37	c.172	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	T	7.192	0.591740	0.13812	.	.	ENSG00000186675	ENST00000373359	T	0.03920	3.76	2.83	0.969	0.19686	.	.	.	.	.	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47169	-0.9138	9	0.29301	T	0.29	.	3.3221	0.07054	0.0:0.5585:0.2694:0.1721	.	58	Q8TD90	MAGE2_HUMAN	P	58	ENSP00000362457:T58P	ENSP00000362457:T58P	T	-	1	0	MAGEE2	74921440	0.999000	0.42202	0.003000	0.11579	0.005000	0.04900	0.914000	0.28624	0.134000	0.18681	-0.511000	0.04467	ACT	-	MAGEE2	-	NULL		0.587	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	0	0	0	13	13	16	0.00	0.00	T	NM_138703		75004715	-1	6	21	6	2	tier1	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	50.00	91.30	SNP	0.002	G	6	6
MYH8	4626	genome.wustl.edu	37	17	10303854	10303854	+	Silent	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr17:10303854C>T	ENST00000403437.2	-	27	3682	c.3588G>A	c.(3586-3588)cgG>cgA	p.R1196R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1196					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTGCTTCTTCCGAAGAGCAG	0.547									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				ENSG00000133020																																					0													81.0	76.0	78.0					17																	10303854		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Carney Complex Variant	-		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3588G>A	17.37:g.10303854C>T			Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SRE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1196	ENST00000403437.2	37	c.3588	CCDS11153.1	17																																																																																			-	MYH8	-	pfam_Myosin_tail		0.547	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	0	0	0	40	40	23	0.00	0.00	C	NM_002472		10303854	-1	9	5	4	1	tier1	no_errors	ENST00000403437	ensembl	human	known	74_37	silent	64.29	83.33	SNP	0.976	T	9	4
PCDHA4	56144	genome.wustl.edu	37	5	140186934	140186934	+	Silent	SNP	G	G	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr5:140186934G>A	ENST00000530339.1	+	1	162	c.162G>A	c.(160-162)ctG>ctA	p.L54L	PCDHA4_ENST00000356878.4_Silent_p.L54L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.L54L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	54	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGGACTGGAGCTGGCGG	0.637													ENSG00000204967																																					0													49.0	57.0	54.0					5																	140186934		2202	4299	6501	SO:0001819	synonymous_variant	0			-	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.162G>A	5.37:g.140186934G>A			O75285|Q2M253	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L54	ENST00000530339.1	37	c.162	CCDS54916.1	5																																																																																			-	PCDHA4	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.637	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	1	1	0	119	119	16	0.83	0.00	G	NM_018907		140186934	+1	29	3	49	2	tier1	no_errors	ENST00000530339	ensembl	human	known	74_37	silent	37.18	60.00	SNP	1.000	A	29	49
PDLIM2	64236	genome.wustl.edu	37	8	22451416	22451416	+	Missense_Mutation	SNP	G	G	A	rs150050587		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr8:22451416G>A	ENST00000397760.4	+	10	1452	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	PDLIM2_ENST00000397761.2_Missense_Mutation_p.R351Q|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R351Q|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000409141.1_3'UTR|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R601Q|PDLIM2_ENST00000265810.4_Intron|PDLIM2_ENST00000339162.7_3'UTR|AC037459.4_ENST00000430850.2_Intron			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	351						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CTCAGCTCTCGGGCCTGAGCC	0.622													ENSG00000120913	G|||	1	0.000199681	0.0008	0.0	5008	,	,		14934	0.0		0.0	False		,,,				2504	0.0																0													29.0	22.0	25.0					8																	22451416		1323	2303	3626	SO:0001583	missense	0			GMAF=0.0005	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.1052G>A	8.37:g.22451416G>A	ENSP00000380867:p.Arg351Gln		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.R601Q	ENST00000397760.4	37	c.1802		8	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.508	-0.100414	0.06967	.	.	ENSG00000120913	ENST00000308354;ENST00000397760;ENST00000397761;ENST00000409417	T;T;T;T	0.13089	3.35;2.62;2.62;2.62	4.43	-2.34	0.06704	.	1.756780	0.03845	N	0.271389	T	0.11537	0.0281	L	0.29908	0.895	0.20563	N	0.999884	B	0.06786	0.001	B	0.01281	0.0	T	0.41752	-0.9491	10	0.59425	D	0.04	.	9.1947	0.37220	0.6717:0.0:0.3283:0.0	.	351	Q96JY6	PDLI2_HUMAN	Q	601;351;351;351	ENSP00000312634:R601Q;ENSP00000380867:R351Q;ENSP00000380868:R351Q;ENSP00000387084:R351Q	ENSP00000312634:R601Q	R	+	2	0	PDLIM2	22507361	0.295000	0.24389	0.070000	0.20053	0.191000	0.23601	0.993000	0.29680	-0.482000	0.06782	0.491000	0.48974	CGG	rs150050587	PDLIM2	-	NULL		0.622	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1	0	0	0	55	55	23	0.00	0.00	G			22451416	+1	7	2	22	6	tier1	no_errors	ENST00000308354	ensembl	human	known	74_37	missense	24.14	25.00	SNP	0.192	A	7	22
TCEA2	6919	genome.wustl.edu	37	20	62699435	62699436	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr20:62699435_62699436GG>AA	ENST00000343484.5	+	4	446_447	c.277_278GG>AA	c.(277-279)GGc>AAc	p.G93N	TCEA2_ENST00000361317.2_Missense_Mutation_p.G66N|TCEA2_ENST00000395053.3_Missense_Mutation_p.G93N|TCEA2_ENST00000465111.1_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	93					DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCGGGGGAGGGGCATGCCTCTG	0.639													ENSG00000171703																																					0																																										SO:0001583	missense	0			-	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	Exception_encountered	20.37:g.62699435_62699436delinsAA	ENSP00000343515:p.Gly93Asn		B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.G93S|p.G93D	ENST00000343484.5	37	c.277|c.278	CCDS13553.1	20																																																																																			-	TCEA2	-	superfamily_TFIIS_N,pirsf_TF_IIS-rel,tigrfam_TFSII		0.639	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA2	HGNC	protein_coding	OTTHUMT00000080277.2	0	0	0	47	48|47	11	0.00	0.00	G	NM_198723		62699435|62699436	+1	8|9	6	15|14	6	tier1	no_errors	ENST00000343484	ensembl	human	known	74_37	missense	34.78|39.13	50.00	SNP	0.725|0.625	A	8	14
HRNR	388697	genome.wustl.edu	37	1	152192912	152192912	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr1:152192912G>A	ENST00000368801.2	-	3	1268	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	398					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATAGCTGGAAGACTGACG	0.607													ENSG00000197915																																					0													156.0	133.0	141.0					1																	152192912		2203	4300	6503	SO:0001583	missense	0			-	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1193C>T	1.37:g.152192912G>A	ENSP00000357791:p.Ser398Phe		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S398F	ENST00000368801.2	37	c.1193	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	6.738	0.504981	0.12822	.	.	ENSG00000197915	ENST00000368801	T	0.11604	2.76	3.63	2.71	0.32032	.	.	.	.	.	T	0.05090	0.0136	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	P	0.55055	0.767	T	0.36601	-0.9741	9	0.34782	T	0.22	.	8.8573	0.35236	0.1154:0.0:0.8846:0.0	.	398	Q86YZ3	HORN_HUMAN	F	398	ENSP00000357791:S398F	ENSP00000357791:S398F	S	-	2	0	HRNR	150459536	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.288000	0.33296	0.877000	0.35895	0.644000	0.83932	TCC	-	HRNR	-	NULL		0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	0	0	1	30	30	38	0.00	2.56	G	XM_373868		152192912	-1	12	13	28	33	tier1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	30.00	28.26	SNP	0.002	A	12	28
COTL1	23406	genome.wustl.edu	37	16	84651171	84651171	+	Silent	SNP	G	G	A			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr16:84651171G>A	ENST00000262428.4	-	2	258	c.96C>T	c.(94-96)gaC>gaT	p.D32D	COTL1_ENST00000564057.1_Intron	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	32	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						TGGTGGAGCCGTCATATTTAA	0.612													ENSG00000103187																																					0													20.0	21.0	21.0					16																	84651171		2182	4264	6446	SO:0001819	synonymous_variant	0			-	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.96C>T	16.37:g.84651171G>A			B2RDU3|D3DUL9|Q86XM5	Silent	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.D32	ENST00000262428.4	37	c.96	CCDS10947.1	16																																																																																			-	COTL1	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin		0.612	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COTL1	HGNC	protein_coding	OTTHUMT00000269075.1	0	0	0	100	100	50	0.00	0.00	G	NM_021149		84651171	-1	4	0	33	6	tier1	no_errors	ENST00000262428	ensembl	human	known	74_37	silent	10.81	0.00	SNP	1.000	A	4	33
NUP153	9972	genome.wustl.edu	37	6	17633077	17633078	+	Splice_Site	INS	-	-	A	rs36027788|rs377304074|rs71002237|rs386406292	byFrequency	TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr6:17633077_17633078insA	ENST00000262077.2	-	17	2464		c.e17-2		NUP153_ENST00000537253.1_Splice_Site	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGAACTTCCTAAAAAAAAAAA	0.406													ENSG00000124789																																					0																																										SO:0001630	splice_region_variant	0				Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2465-2->T	6.37:g.17633088_17633088dupA			B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Splice_Site	INS	-	e18-2	ENST00000262077.2	37	c.2558-3_2558-2	CCDS4541.1	6																																																																																				NUP153	-	-		0.406	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	0	0	0	50	50	7	0.00	0.00	-		Intron	17633078	-1	4	1	30	7	tier1	no_errors	ENST00000537253	ensembl	human	known	74_37	splice_site_ins	11.76	12.50	INS	0.970:0.138	A	4	30
PAXIP1	22976	genome.wustl.edu	37	7	154760325	154760327	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr7:154760325_154760327delTGC	ENST00000404141.1	-	7	1738_1740	c.1584_1586delGCA	c.(1582-1587)cagcaa>caa	p.528_529QQ>Q	PAXIP1_ENST00000397192.1_In_Frame_Del_p.528_529QQ>Q|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	528	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		aatctgctgttgctgctgctgct	0.611													ENSG00000157212																																					0																																										SO:0001651	inframe_deletion	0				U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1584_1586delGCA	7.37:g.154760334_154760336delTGC	ENSP00000384048:p.Gln531del		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	In_Frame_Del	DEL	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q531in_frame_del	ENST00000404141.1	37	c.1586_1584	CCDS47753.1	7																																																																																				PAXIP1	-	NULL		0.611	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	0	0	0	37	37	7	0.00	0.00	TGC	NM_007349		154760327	-1	4	0	14	4	tier1	no_errors	ENST00000397192	ensembl	human	known	74_37	in_frame_del	22.22	0.00	DEL	1.000:1.000:0.993	-	4	14
PCDHA4	56144	genome.wustl.edu	37	5	140188483	140188483	+	Missense_Mutation	SNP	G	G	C			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr5:140188483G>C	ENST00000530339.1	+	1	1711	c.1711G>C	c.(1711-1713)Ggt>Cgt	p.G571R	PCDHA4_ENST00000356878.4_Missense_Mutation_p.G571R|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G571R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	571					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCGGGCGGGTGGCACTGG	0.672													ENSG00000204967																																					0													82.0	78.0	80.0					5																	140188483		2202	4298	6500	SO:0001583	missense	0			-	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1711G>C	5.37:g.140188483G>C	ENSP00000435300:p.Gly571Arg		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G571R	ENST00000530339.1	37	c.1711	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	2.450	-0.326588	0.05350	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.51817	0.73;0.69;0.7	3.76	1.9	0.25705	Cadherin-like (1);	.	.	.	.	T	0.19685	0.0473	N	0.03903	-0.33	0.09310	N	1	B;B;B	0.17852	0.005;0.003;0.024	B;B;B	0.20577	0.03;0.006;0.027	T	0.22487	-1.0215	9	0.19590	T	0.45	.	2.8694	0.05611	0.1065:0.1792:0.5305:0.1838	.	571;571;571	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	R	571	ENSP00000423470:G571R;ENSP00000349344:G571R;ENSP00000435300:G571R	ENSP00000349344:G571R	G	+	1	0	PCDHA4	140168667	0.000000	0.05858	0.016000	0.15963	0.134000	0.20937	0.225000	0.17757	0.340000	0.23745	0.484000	0.47621	GGT	-	PCDHA4	-	superfamily_Cadherin-like		0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	0	0	0	110	110	6	0.00	0.00	G	NM_018907		140188483	+1	23	0	34	1	tier1	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	40.35	0.00	SNP	0.007	C	23	34
WDR18	57418	genome.wustl.edu	37	19	991345	991345	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr19:991345C>T	ENST00000251289.5	+	7	948	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	WDR18_ENST00000587001.2_Missense_Mutation_p.L309F	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	309					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGGTGGCCCTCAAAGGTGG	0.692													ENSG00000065268																																					0													20.0	17.0	18.0					19																	991345		2126	4194	6320	SO:0001583	missense	0			-		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.925C>T	19.37:g.991345C>T	ENSP00000251289:p.Leu309Phe		O60390|Q9BWR2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L309F	ENST00000251289.5	37	c.925	CCDS12051.1	19	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677110	0.29783	.	.	ENSG00000065268	ENST00000251289	T	0.18810	2.19	3.83	1.65	0.23941	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.058200	0.64402	D	0.000002	T	0.14227	0.0344	L	0.44542	1.39	0.43021	D	0.994578	P	0.35656	0.514	B	0.32090	0.14	T	0.08146	-1.0736	10	0.33940	T	0.23	.	6.8768	0.24151	0.1745:0.7311:0.0:0.0944	.	309	Q9BV38	WDR18_HUMAN	F	309	ENSP00000251289:L309F	ENSP00000251289:L309F	L	+	1	0	WDR18	942345	1.000000	0.71417	0.547000	0.28179	0.133000	0.20885	5.618000	0.67722	0.289000	0.22422	-0.282000	0.10007	CTC	-	WDR18	-	superfamily_WD40_repeat_dom		0.692	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR18	HGNC	protein_coding	OTTHUMT00000458225.2	0	0	0	26	26	12	0.00	0.00	C			991345	+1	8	0	1	2	tier1	no_errors	ENST00000251289	ensembl	human	known	74_37	missense	88.89	0.00	SNP	1.000	T	8	1
RP11-815J4.6	0	genome.wustl.edu	37	18	12076541	12076542	+	RNA	INS	-	-	CGCCGCCGCCGC	rs553400288	byFrequency	TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr18:12076541_12076542insCGCCGCCGCCGC	ENST00000591780.1	-	0	53_54																											CAGTGCCGCGGcgccgccgccg	0.797													ENSG00000256616																																					0																																												0																																18.37:g.12076541_12076542insCGCCGCCGCCGC				R	INS	-	NULL	ENST00000591780.1	37	NULL		18																																																																																				RP11-815J4.6	-	-		0.797	RP11-815J4.6-002	KNOWN	basic	processed_transcript	ENSG00000256616	Clone_based_vega_gene	pseudogene	OTTHUMT00000452539.1	0	0	0	0	0	0	0.00	0.00	-			12076542	-1	0	0	0	0	tier1	no_errors	ENST00000591780	ensembl	human	known	74_37	rna	0.00	0.00	INS	0.834:0.844	CGCCGCCGCCGC	0	0
LHX1	3975	genome.wustl.edu	37	17	35299571	35299571	+	Silent	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr17:35299571C>T	ENST00000254457.5	+	4	2161	c.750C>T	c.(748-750)gcC>gcT	p.A250A	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	250					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GGCGCCACGCCTTCTTCCGCA	0.706													ENSG00000132130																																					0													10.0	13.0	12.0					17																	35299571		2163	4233	6396	SO:0001819	synonymous_variant	0			-	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.750C>T	17.37:g.35299571C>T			Q3MIW0	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.A250	ENST00000254457.5	37	c.750	CCDS11316.1	17																																																																																			-	LHX1	-	NULL		0.706	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LHX1	HGNC	protein_coding	OTTHUMT00000256704.3	0	0	0	22	22	1	0.00	0.00	C	NM_005568		35299571	+1	3	1	5	0	tier1	no_errors	ENST00000254457	ensembl	human	known	74_37	silent	37.50	100.00	SNP	1.000	T	3	5
LTBP3	4054	genome.wustl.edu	37	11	65325326	65325328	+	In_Frame_Del	DEL	CAG	CAG	-	rs577530923	byFrequency	TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr11:65325326_65325328delCAG	ENST00000301873.5	-	1	371_373	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	LTBP3_ENST00000322147.4_In_Frame_Del_p.L35del|LTBP3_ENST00000536982.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	35	Gly-rich.			Missing (in Ref. 2; BAB15767). {ECO:0000305}.	bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						cgcccaggcccagcagcagcagc	0.818													ENSG00000168056																																					0									,,	2,10,52		1,0,0,5,0,26					,,	2.7	1.0			1	37,32,177		18,0,1,14,4,86	no	codingComplex,utr-5,codingComplex	LTBP3	NM_021070.4,NM_001164266.1,NM_001130144.2	,,	19,0,1,19,4,112	A1A1,A1A2,A1R,A2A2,A2R,RR		28.0488,18.75,26.129	,,	,,		39,42,229				SO:0001651	inframe_deletion	0				AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.103_105delCTG	11.37:g.65325335_65325337delCAG	ENSP00000301873:p.Leu35del		O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Del	DEL	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.L35in_frame_del	ENST00000301873.5	37	c.105_103	CCDS44647.1	11																																																																																				LTBP3	-	NULL		0.818	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	0	0	0	33	33	0	0.00	0.00	CAG	NM_021070		65325328	-1	2	0	6	1	tier1	no_errors	ENST00000301873	ensembl	human	known	74_37	in_frame_del	25.00	0.00	DEL	0.996:0.996:0.995	-	2	6
PSG1	5669	genome.wustl.edu	37	19	43383689	43383689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr19:43383689C>T	ENST00000436291.2	-	1	161	c.45G>A	c.(43-45)tgG>tgA	p.W15*	PSG1_ENST00000403380.3_Nonsense_Mutation_p.W15*|PSG1_ENST00000312439.6_Nonsense_Mutation_p.W15*|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000244296.2_Nonsense_Mutation_p.W15*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.W15*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.W15*	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	15					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GGAGCCCCTTCCATTTGATGC	0.567													ENSG00000231924																																					0													167.0	148.0	155.0					19																	43383689		1510	2707	4217	SO:0001587	stop_gained	0			-		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.45G>A	19.37:g.43383689C>T	ENSP00000413041:p.Trp15*		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W15*	ENST00000436291.2	37	c.45	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	17.77	3.470749	0.63625	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	.	.	.	1.64	1.64	0.23874	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7892	0.23689	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000244296:W15X	W	-	3	0	PSG1	48075529	0.200000	0.23398	0.024000	0.17045	0.045000	0.14185	1.940000	0.40223	1.249000	0.43950	0.184000	0.17185	TGG	-	PSG1	-	NULL		0.567	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	0	0	0	81	81	1	0.00	0.00	C			43383689	-1	36	0	39	1	tier1	no_errors	ENST00000312439	ensembl	human	known	74_37	nonsense	48.00	0.00	SNP	0.024	T	36	39
MALAT1	378938	genome.wustl.edu	37	11	65273756	65273766	+	lincRNA	DEL	TGAACTATATA	TGAACTATATA	-	rs370223485	byFrequency	TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	TGAACTATATA	TGAACTATATA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr11:65273756_65273766delTGAACTATATA	ENST00000534336.1	+	0	8524_8534					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ACAATATCTTTGAACTATATACATCCTTGAT	0.374													ENSG00000251562																																					0																																												0				AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273756_65273766delTGAACTATATA				R	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																				MALAT1	-	-		0.374	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	0	0	0	95	95	95	0.00	0.00	TGAACTATATA	NR_002819		65273766	+1	3	3	43	43	tier1	no_errors	ENST00000534336	ensembl	human	known	74_37	rna	6.52	6.52	DEL	0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-	3	43
MALAT1	378938	genome.wustl.edu	37	11	65273769	65273785	+	lincRNA	DEL	TCCTTGATGTATAATTT	TCCTTGATGTATAATTT	-	rs369197447		TCGA-3B-A9HY-01A-11D-A38Z-09	TCGA-3B-A9HY-10A-01D-A38Z-09	TCCTTGATGTATAATTT	TCCTTGATGTATAATTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	588bb1bf-5859-4649-b7f2-4b1eb2e85078	0785de42-153c-44f5-8af2-74b38a93a637	g.chr11:65273769_65273785delTCCTTGATGTATAATTT	ENST00000534336.1	+	0	8537_8553					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ACTATATACATCCTTGATGTATAATTTGTCAGGAGCT	0.387													ENSG00000251562																																					0																																												0				AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273769_65273785delTCCTTGATGTATAATTT				R	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																				MALAT1	-	-		0.387	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	0	0	0	88	88	88	0.00	0.00	TCCTTGATGTATAATTT	NR_002819		65273785	+1	3	3	43	43	tier1	no_errors	ENST00000534336	ensembl	human	known	74_37	rna	6.52	6.52	DEL	0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001	-	3	43
