#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AASDHPPT	60496	genome.wustl.edu	37	11	105962115	105962115	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr11:105962115C>G	ENST00000278618.4	+	4	826	c.604C>G	c.(604-606)Cta>Gta	p.L202V	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	202					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		TGAATTTGATCTATCTCCATT	0.358																																						dbGAP											0													108.0	116.0	114.0					11																	105962115		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.604C>G	11.37:g.105962115C>G	ENSP00000278618:p.Leu202Val		B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	pfam_4-PPantetheinyl_Trfase,superfamily_4-PPantetheinyl_Trfase	p.L202V	ENST00000278618.4	37	c.604	CCDS31664.1	11	.	.	.	.	.	.	.	.	.	.	C	5.167	0.216307	0.09810	.	.	ENSG00000149313	ENST00000533423;ENST00000524411;ENST00000278618	.	.	.	5.77	0.952	0.19584	4&apos (2);-phosphopantetheinyl transferase (2);	0.341268	0.33534	N	0.004807	T	0.19127	0.0459	N	0.13327	0.33	0.27956	N	0.93695	B	0.02656	0.0	B	0.04013	0.001	T	0.14476	-1.0471	9	0.17832	T	0.49	.	4.9264	0.13896	0.3658:0.1892:0.445:0.0	.	202	Q9NRN7	ADPPT_HUMAN	V	137;137;202	.	ENSP00000278618:L202V	L	+	1	2	AASDHPPT	105467325	1.000000	0.71417	0.994000	0.49952	0.895000	0.52256	1.450000	0.35134	0.135000	0.18707	-0.375000	0.07067	CTA	AASDHPPT	-	superfamily_4-PPantetheinyl_Trfase	ENSG00000149313		0.358	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDHPPT	HGNC	protein_coding	OTTHUMT00000388734.1	299	0.00	0	C	NM_015423		105962115	105962115	+1	no_errors	ENST00000278618	ensembl	human	known	69_37n	missense	115	21.77	32	SNP	0.996	G
ADAMTS16	170690	genome.wustl.edu	37	5	5262783	5262783	+	Silent	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr5:5262783G>A	ENST00000274181.7	+	18	2814	c.2676G>A	c.(2674-2676)gtG>gtA	p.V892V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	892	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGATGACCGTGAGAGAGGGCT	0.463																																						dbGAP											0													96.0	99.0	98.0					5																	5262783		1953	4141	6094	-	-	-	SO:0001819	synonymous_variant	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2676G>A	5.37:g.5262783G>A			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V892	ENST00000274181.7	37	c.2676	CCDS43299.1	5																																																																																			ADAMTS16	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000145536		0.463	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	87	0.00	0	G	NM_139056		5262783	5262783	+1	no_errors	ENST00000274181	ensembl	human	known	69_37n	silent	64	34.69	34	SNP	0.000	A
ADAMTS7	11173	genome.wustl.edu	37	15	79090438	79090438	+	Silent	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr15:79090438G>A	ENST00000388820.4	-	3	684	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	158					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTTGGAGAGCTGGAACA	0.652																																						dbGAP											0													82.0	78.0	79.0					15																	79090438		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.474C>T	15.37:g.79090438G>A			Q14F51|Q6P7J9	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L158	ENST00000388820.4	37	c.474	CCDS32303.1	15																																																																																			ADAMTS7	-	pfam_Peptidase_M12B_N	ENSG00000136378		0.652	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	101	0.00	0	G	NM_014272		79090438	79090438	-1	no_errors	ENST00000388820	ensembl	human	known	69_37n	silent	114	23.49	35	SNP	0.518	A
ATRX	546	genome.wustl.edu	37	X	76813032	76813032	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chrX:76813032G>A	ENST00000373344.5	-	30	6803	c.6589C>T	c.(6589-6591)Cgt>Tgt	p.R2197C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R2159C	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2197	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GTAAAATGACGCTCCACCTGC	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											149.0	136.0	141.0					X																	76813032		2203	4296	6499	-	-	-	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6589C>T	X.37:g.76813032G>A	ENSP00000362441:p.Arg2197Cys		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R2197C	ENST00000373344.5	37	c.6589	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054942	0.55325	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92647	-3.08;-3.08	5.56	5.56	0.83823	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.97155	0.9070	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.98036	1.0379	10	0.87932	D	0	-7.1446	18.5299	0.90987	0.0:0.0:1.0:0.0	.	2159;2197	P46100-4;P46100	.;ATRX_HUMAN	C	2197;2159	ENSP00000362441:R2197C;ENSP00000378967:R2159C	ENSP00000362441:R2197C	R	-	1	0	ATRX	76699688	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.179000	0.58290	2.319000	0.78375	0.594000	0.82650	CGT	ATRX	-	pfscan_Helicase_C	ENSG00000085224		0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	260	0.00	0	G	NM_000489		76813032	76813032	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	144	26.53	52	SNP	1.000	A
BRIX1	55299	genome.wustl.edu	37	5	34915891	34915891	+	Silent	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr5:34915891G>A	ENST00000336767.5	+	1	411	c.48G>A	c.(46-48)gcG>gcA	p.A16A	BRIX1_ENST00000506023.1_3'UTR|RAD1_ENST00000341754.4_Intron|RAD1_ENST00000382038.2_5'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	16				GFAVQAKKPKRNEIDAE -> RLCSSGEEAKKKRNRCG (in Ref. 1; AAL83818). {ECO:0000305}.	ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						CAGTTCAGGCGAAGAAGCCAA	0.632																																						dbGAP											0													47.0	52.0	50.0					5																	34915891		2191	4292	6483	-	-	-	SO:0001819	synonymous_variant	0				CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.48G>A	5.37:g.34915891G>A			A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Silent	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.A16	ENST00000336767.5	37	c.48	CCDS34143.1	5																																																																																			BRIX1	-	NULL	ENSG00000113460		0.632	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIX1	HGNC	protein_coding	OTTHUMT00000366826.2	83	0.00	0	G	NM_018321		34915891	34915891	+1	no_errors	ENST00000336767	ensembl	human	known	69_37n	silent	96	25.58	33	SNP	0.992	A
C16orf59	80178	genome.wustl.edu	37	16	2510938	2510938	+	Silent	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr16:2510938G>A	ENST00000361837.4	+	4	383	c.318G>A	c.(316-318)ctG>ctA	p.L106L	C16orf59_ENST00000483320.1_5'UTR|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000569496.1_Silent_p.L106L|C16orf59_ENST00000563531.1_Silent_p.L106L	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	106										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCCCCAGCCTGAAATCTAGGT	0.582																																						dbGAP											0													75.0	84.0	81.0					16																	2510938		2067	4198	6265	-	-	-	SO:0001819	synonymous_variant	0			AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.318G>A	16.37:g.2510938G>A			B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	NULL	p.E1K	ENST00000361837.4	37	c.1	CCDS10468.2	16																																																																																			C16orf59	-	NULL	ENSG00000162062		0.582	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf59	HGNC	protein_coding	OTTHUMT00000250802.3	82	0.00	0	G	NM_025108		2510938	2510938	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000565716	ensembl	human	known	69_37n	missense	81	19.80	20	SNP	0.082	A
CHMP3	51652	genome.wustl.edu	37	2	86769398	86769398	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr2:86769398C>T	ENST00000263856.4	-	2	211	c.83G>A	c.(82-84)aGa>aAa	p.R28K	CHMP3_ENST00000409727.1_Missense_Mutation_p.R28K|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.R57K|CHMP3_ENST00000439940.2_Missense_Mutation_p.R57K|CHMP3_ENST00000409225.2_Intron	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	28	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											GTCAACAACTCTCATTTCCTT	0.328																																						dbGAP											0													132.0	124.0	126.0					2																	86769398		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.83G>A	2.37:g.86769398C>T	ENSP00000263856:p.Arg28Lys		A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	pfam_Snf7	p.R57K	ENST00000263856.4	37	c.170	CCDS33236.1	2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876540	0.91664	.	.	ENSG00000115561;ENSG00000115561;ENSG00000115561;ENSG00000249884	ENST00000263856;ENST00000409727;ENST00000439940;ENST00000440757	T;D;T;T	0.94046	-0.68;-3.34;-0.68;-0.68	5.39	5.39	0.77823	.	0.047645	0.85682	D	0.000000	D	0.94820	0.8327	M	0.89904	3.07	0.58432	D	0.999998	B;B;B	0.28636	0.013;0.218;0.134	B;B;B	0.34418	0.105;0.059;0.182	D	0.94160	0.7413	10	0.72032	D	0.01	-15.1881	15.005	0.71504	0.0:1.0:0.0:0.0	.	57;28;28	Q9Y3E7-3;Q9Y3E7-4;Q9Y3E7	.;.;CHMP3_HUMAN	K	28;28;57;135	ENSP00000263856:R28K;ENSP00000387045:R28K;ENSP00000405575:R57K;ENSP00000392995:R135K	ENSP00000392995:R135K	R	-	2	0	VPS24;RNF103-VPS24	86622909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.400000	0.59709	2.690000	0.91761	0.655000	0.94253	AGA	CHMP3	-	pfam_Snf7	ENSG00000115561		0.328	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP3	HGNC	protein_coding	OTTHUMT00000330015.2	281	0.00	0	C	NM_016079		86769398	86769398	-1	no_errors	ENST00000439940	ensembl	human	known	69_37n	missense	164	26.46	59	SNP	1.000	T
COPG1	22820	genome.wustl.edu	37	3	128976344	128976344	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr3:128976344G>A	ENST00000314797.6	+	9	715	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	204					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TACCATGTGCGTAAGAATGAC	0.522																																						dbGAP											0													170.0	164.0	166.0					3																	128976344		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.611G>A	3.37:g.128976344G>A	ENSP00000325002:p.Arg204His		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.R204H	ENST00000314797.6	37	c.611	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.259657	0.95368	.	.	ENSG00000181789	ENST00000314797	T	0.29397	1.57	5.29	5.29	0.74685	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.67116	0.2859	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.77487	-0.2569	10	0.87932	D	0	-3.085	16.519	0.84308	0.0:0.0:1.0:0.0	.	204	Q9Y678	COPG_HUMAN	H	204	ENSP00000325002:R204H	ENSP00000325002:R204H	R	+	2	0	COPG	130459034	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.475000	0.97721	2.490000	0.84030	0.585000	0.79938	CGT	COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu	ENSG00000181789		0.522	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	59	0.00	0	G	NM_016128		128976344	128976344	+1	no_errors	ENST00000314797	ensembl	human	known	69_37n	missense	83	18.45	19	SNP	1.000	A
CRAMP1L	57585	genome.wustl.edu	37	16	1712794	1712794	+	Silent	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr16:1712794G>A	ENST00000397412.3	+	13	2727	c.2628G>A	c.(2626-2628)cgG>cgA	p.R876R	CRAMP1L_ENST00000436138.3_Silent_p.R873R|CRAMP1L_ENST00000293925.5_Silent_p.R876R|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Silent_p.R254R			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	876						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CAAAGCCCCGGAAGCTGCGGA	0.642																																						dbGAP											0													27.0	32.0	30.0					16																	1712794		1930	4124	6054	-	-	-	SO:0001819	synonymous_variant	0			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2628G>A	16.37:g.1712794G>A			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	NULL	p.E34K	ENST00000397412.3	37	c.100	CCDS10440.2	16	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449454	0.26074	.	.	ENSG00000007545	ENST00000415022	.	.	.	5.67	3.68	0.42216	.	.	.	.	.	T	0.58892	0.2154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53844	-0.8381	4	.	.	.	-26.8639	9.1373	0.36881	0.0733:0.0:0.7813:0.1455	.	.	.	.	K	34	.	.	E	+	1	0	CRAMP1L	1652795	1.000000	0.71417	0.962000	0.40283	0.971000	0.66376	2.210000	0.42816	0.723000	0.32274	0.561000	0.74099	GAA	CRAMP1L	-	NULL	ENSG00000007545		0.642	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	46	0.00	0	G			1712794	1712794	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000415022	ensembl	human	novel	69_37n	missense	47	20.34	12	SNP	1.000	A
CYP2C9	1559	genome.wustl.edu	37	10	96740960	96740960	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr10:96740960G>A	ENST00000260682.6	+	7	994	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	328					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGAAGAGATTGAACGTGTGAT	0.458																																					Ovarian(54;1266 1406 16072 35076)	dbGAP											0													148.0	135.0	139.0					10																	96740960		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.982G>A	10.37:g.96740960G>A	ENSP00000260682:p.Glu328Lys		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E328K	ENST00000260682.6	37	c.982	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	12.20	1.866047	0.32977	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.67698	-0.28	3.78	1.81	0.25067	.	0.069407	0.56097	U	0.000039	T	0.47948	0.1473	N	0.16656	0.425	0.29292	N	0.869306	P;P	0.41710	0.76;0.76	B;B	0.38378	0.272;0.272	T	0.51196	-0.8736	10	0.87932	D	0	.	11.4148	0.49945	0.0:0.3527:0.6473:0.0	.	328;328	Q5VX92;P11712	.;CP2C9_HUMAN	K	328	ENSP00000260682:E328K	ENSP00000260682:E328K	E	+	1	0	CYP2C9	96730950	1.000000	0.71417	0.139000	0.22197	0.166000	0.22503	3.117000	0.50407	0.354000	0.24105	0.305000	0.20034	GAA	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000138109		0.458	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	254	0.00	0	G	NM_000771		96740960	96740960	+1	no_errors	ENST00000260682	ensembl	human	known	69_37n	missense	141	20.79	37	SNP	0.976	A
DNAJC14	85406	genome.wustl.edu	37	12	56221997	56221997	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr12:56221997G>A	ENST00000357606.3	-	3	735	c.446C>T	c.(445-447)tCt>tTt	p.S149F	DNAJC14_ENST00000317269.3_Missense_Mutation_p.S149F|DNAJC14_ENST00000317287.5_Missense_Mutation_p.S149F|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	149					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GTTGCTAGAAGAACCATTTCC	0.473																																						dbGAP											0													108.0	112.0	111.0					12																	56221997		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.446C>T	12.37:g.56221997G>A	ENSP00000350223:p.Ser149Phe		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.S149F	ENST00000357606.3	37	c.446	CCDS8894.1	12	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653053	0.47362	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445	T;T;T	0.48522	0.81;0.81;0.81	5.27	5.27	0.74061	.	0.220963	0.37530	N	0.002055	T	0.41026	0.1141	L	0.27053	0.805	0.23464	N	0.997621	P;B	0.36733	0.567;0.38	B;B	0.40534	0.332;0.265	T	0.46843	-0.9162	10	0.87932	D	0	-4.811	14.7771	0.69738	0.0:0.0:1.0:0.0	.	149;149	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	F	149	ENSP00000350223:S149F;ENSP00000316240:S149F;ENSP00000317500:S149F	ENSP00000316240:S149F	S	-	2	0	DNAJC14	54508264	0.991000	0.36638	0.865000	0.33974	0.619000	0.37552	2.076000	0.41548	2.627000	0.88993	0.650000	0.86243	TCT	DNAJC14	-	NULL	ENSG00000135392		0.473	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC14	HGNC	protein_coding	OTTHUMT00000409095.1	124	0.00	0	G	NM_032364		56221997	56221997	-1	no_errors	ENST00000317269	ensembl	human	known	69_37n	missense	86	22.52	25	SNP	0.314	A
EBF4	57593	genome.wustl.edu	37	20	2736401	2736401	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr20:2736401G>A	ENST00000609451.1	+	15	1741	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T	EBF4_ENST00000477287.1_3'UTR|EBF4_ENST00000380648.4_Missense_Mutation_p.A553T			Q9BQW3	COE4_HUMAN	early B-cell factor 4	557					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GAGCGCCTTCGCCCCCGTGCT	0.682											OREG0025728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													24.0	22.0	22.0					20																	2736401		692	1591	2283	-	-	-	SO:0001583	missense	0			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.1669G>A	20.37:g.2736401G>A	ENSP00000477023:p.Ala557Thr	605	Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.R618H	ENST00000609451.1	37	c.1853		20	.	.	.	.	.	.	.	.	.	.	G	31	5.088131	0.94100	.	.	ENSG00000088881	ENST00000380648;ENST00000342725;ENST00000539912	T;T	0.50001	0.76;0.76	4.31	4.31	0.51392	.	3.141520	0.01367	N	0.012425	T	0.72526	0.3471	M	0.69523	2.12	0.40087	D	0.976206	D	0.89917	1.0	D	0.91635	0.999	T	0.54708	-0.8253	10	0.48119	T	0.1	-16.4835	14.3281	0.66534	0.0:0.0:1.0:0.0	.	553	E9PEI2	.	T	553;557;139	ENSP00000370022:A553T;ENSP00000345030:A557T	ENSP00000345030:A557T	A	+	1	0	EBF4	2684401	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.493000	0.97960	2.237000	0.73441	0.561000	0.74099	GCC	EBF4	-	NULL	ENSG00000088881		0.682	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	EBF4	HGNC	protein_coding	OTTHUMT00000471930.1	15	0.00	0	G	XM_938882		2736401	2736401	+1	no_errors	ENST00000449079	ensembl	human	known	69_37n	missense	28	36.36	16	SNP	1.000	A
EIF2B5	8893	genome.wustl.edu	37	3	183856022	183856022	+	Silent	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr3:183856022C>T	ENST00000273783.3	+	5	875	c.753C>T	c.(751-753)atC>atT	p.I251I	EIF2B5_ENST00000444495.1_Silent_p.I251I|RP11-778D9.12_ENST00000608135.1_RNA	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	251					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATATCAGCATCTGTTCTCCTC	0.473																																						dbGAP											0													155.0	141.0	145.0					3																	183856022		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.753C>T	3.37:g.183856022C>T			Q541Z1|Q96D04	Silent	SNP	pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain	p.I251	ENST00000273783.3	37	c.753	CCDS3252.1	3																																																																																			EIF2B5	-	NULL	ENSG00000145191		0.473	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1	184	0.00	0	C			183856022	183856022	+1	no_errors	ENST00000273783	ensembl	human	known	69_37n	silent	161	23.33	49	SNP	1.000	T
FBXL13	222235	genome.wustl.edu	37	7	102453790	102453790	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr7:102453790C>G	ENST00000313221.4	-	20	2633	c.2207G>C	c.(2206-2208)tGa>tCa	p.*736S	FBXL13_ENST00000456695.1_Nonstop_Mutation_p.*454S|FBXL13_ENST00000393772.2_Nonstop_Mutation_p.*708S|FBXL13_ENST00000379308.3_Nonstop_Mutation_p.*691S|FBXL13_ENST00000436908.1_Nonstop_Mutation_p.*736S|FBXL13_ENST00000379306.3_Nonstop_Mutation_p.*454S|FBXL13_ENST00000379305.3_Nonstop_Mutation_p.*708S|FBXL13_ENST00000455112.2_Nonstop_Mutation_p.*691S	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	0										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GGCTGAAGGTCACGCTGCTTG	0.388																																						dbGAP											0													171.0	150.0	157.0					7																	102453790		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.2207G>C	7.37:g.102453790C>G			C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Nonstop_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.*736S	ENST00000313221.4	37	c.2207	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	C	8.757	0.922576	0.18056	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	.	.	.	4.96	-0.651	0.11454	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9192	0.29835	0.0:0.3607:0.0:0.6393	.	.	.	.	S	708;691;454;457;708;736;736;454;691	.	.	X	-	2	2	FBXL13	102241026	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.272000	0.08560	-0.017000	0.14103	0.591000	0.81541	TGA	FBXL13	-	NULL	ENSG00000161040		0.388	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	347	0.00	0	C	NM_145032		102453790	102453790	-1	no_errors	ENST00000313221	ensembl	human	known	69_37n	nonstop	243	23.82	76	SNP	0.000	G
FITM2	128486	genome.wustl.edu	37	20	42935837	42935837	+	Silent	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr20:42935837G>A	ENST00000396825.3	-	2	237	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	73					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						ATGAAAGGCAGAAGGAGACAG	0.572																																						dbGAP											0													57.0	49.0	52.0					20																	42935837		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.217C>T	20.37:g.42935837G>A			A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Silent	SNP	pfam_FIT	p.L73	ENST00000396825.3	37	c.217	CCDS33473.1	20																																																																																			FITM2	-	pfam_FIT	ENSG00000197296		0.572	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FITM2	HGNC	protein_coding	OTTHUMT00000079342.2	47	0.00	0	G	XM_371399		42935837	42935837	-1	no_errors	ENST00000396825	ensembl	human	known	69_37n	silent	45	26.23	16	SNP	0.986	A
FOXD3	27022	genome.wustl.edu	37	1	63788817	63788817	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr1:63788817G>A	ENST00000371116.2	+	1	88	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	30					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						TGTGGTGGGCGAGGGCGACGA	0.726																																					Pancreas(68;276 1750 11966 31252)	dbGAP											0													23.0	21.0	21.0					1																	63788817		2174	4270	6444	-	-	-	SO:0001583	missense	0			AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.88G>A	1.37:g.63788817G>A	ENSP00000360157:p.Glu30Lys		Q9BYM2|Q9UDD1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E30K	ENST00000371116.2	37	c.88	CCDS624.1	1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596167	0.66332	.	.	ENSG00000187140	ENST00000371116	D	0.95588	-3.75	2.71	2.71	0.32032	.	0.464806	0.19708	U	0.107871	D	0.86422	0.5929	L	0.36672	1.1	0.45502	D	0.99846	P	0.40211	0.707	B	0.26614	0.071	D	0.88999	0.3420	10	0.72032	D	0.01	.	13.2678	0.60144	0.0:0.0:1.0:0.0	.	30	Q9UJU5	FOXD3_HUMAN	K	30	ENSP00000360157:E30K	ENSP00000360157:E30K	E	+	1	0	FOXD3	63561405	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.547000	0.60712	1.834000	0.53371	0.455000	0.32223	GAG	FOXD3	-	NULL	ENSG00000187140		0.726	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD3	HGNC	protein_coding	OTTHUMT00000025331.1	9	0.00	0	G			63788817	63788817	+1	no_errors	ENST00000371116	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	1.000	A
GOLGA6L17P	642402	genome.wustl.edu	37	15	85053254	85053254	+	RNA	SNP	T	T	C			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr15:85053254T>C	ENST00000414190.2	-	0	198					NR_003246.2																						TACCAACAGCTTCTCCACTCA	0.577																																						dbGAP											0																																										-	-	-			0																															15.37:g.85053254T>C				RNA	SNP	-	NULL	ENST00000414190.2	37	NULL		15																																																																																			GOLGA6L5	-	-	ENSG00000230373		0.577	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	GOLGA6L5	HGNC	pseudogene	OTTHUMT00000418579.1	41	0.00	0	T			85053254	85053254	-1	no_errors	ENST00000414190	ensembl	human	known	69_37n	rna	43	12.24	6	SNP	0.973	C
GPATCH2	55105	genome.wustl.edu	37	1	217688186	217688186	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr1:217688186A>T	ENST00000366935.3	-	6	1254	c.1144T>A	c.(1144-1146)Tcc>Acc	p.S382T		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	382					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GAATCCGGGGAAAAATGAACC	0.363																																						dbGAP											0													48.0	48.0	48.0					1																	217688186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1144T>A	1.37:g.217688186A>T	ENSP00000355902:p.Ser382Thr		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.S382T	ENST00000366935.3	37	c.1144	CCDS1518.1	1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790771	0.31685	.	.	ENSG00000092978	ENST00000366935	T	0.33654	1.4	5.95	4.83	0.62350	.	0.300452	0.36555	N	0.002531	T	0.31136	0.0787	M	0.68317	2.08	0.80722	D	1	B	0.25719	0.132	B	0.22152	0.038	T	0.08868	-1.0701	10	0.13108	T	0.6	-36.0607	7.0394	0.25010	0.7991:0.0:0.0692:0.1317	.	382	Q9NW75	GPTC2_HUMAN	T	382	ENSP00000355902:S382T	ENSP00000355902:S382T	S	-	1	0	GPATCH2	215754809	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	3.800000	0.55537	1.075000	0.40932	0.528000	0.53228	TCC	GPATCH2	-	NULL	ENSG00000092978		0.363	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	89	0.00	0	A	NM_018040		217688186	217688186	-1	no_errors	ENST00000366935	ensembl	human	known	69_37n	missense	87	17.14	18	SNP	1.000	T
HIST1H2AG	8969	genome.wustl.edu	37	6	27100867	27100867	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr6:27100867A>G	ENST00000359193.2	+	1	36	c.17A>G	c.(16-18)aAg>aGg	p.K6R	HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	6						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GGACGTGGCAAGCAGGGAGGC	0.582																																						dbGAP											0													41.0	47.0	45.0					6																	27100867		2200	4298	6498	-	-	-	SO:0001583	missense	0			L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.17A>G	6.37:g.27100867A>G	ENSP00000352119:p.Lys6Arg		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K6R	ENST00000359193.2	37	c.17	CCDS4619.1	6	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279525	0.23307	.	.	ENSG00000196787	ENST00000359193	T	0.44083	0.93	4.08	4.08	0.47627	Histone-fold (2);Histone H2A (1);	0.000000	0.42053	D	0.000779	T	0.20536	0.0494	.	.	.	0.32950	D	0.519642	B	0.22683	0.073	B	0.24848	0.056	T	0.20207	-1.0282	9	0.87932	D	0	.	11.6705	0.51399	1.0:0.0:0.0:0.0	.	6	P0C0S8	H2A1_HUMAN	R	6	ENSP00000352119:K6R	ENSP00000352119:K6R	K	+	2	0	HIST1H2AG	27208846	1.000000	0.71417	0.937000	0.37676	0.092000	0.18411	8.265000	0.89869	1.801000	0.52704	0.533000	0.62120	AAG	HIST1H2AG	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000196787		0.582	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AG	HGNC	protein_coding	OTTHUMT00000040137.1	45	0.00	0	A	NM_021064		27100867	27100867	+1	no_errors	ENST00000359193	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	1.000	G
HSD11B1	3290	genome.wustl.edu	37	1	209880330	209880330	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr1:209880330C>G	ENST00000367028.2	+	5	543	c.374C>G	c.(373-375)tCt>tGt	p.S125C	HSD11B1_ENST00000367027.3_Missense_Mutation_p.S125C|HSD11B1_ENST00000261465.1_Missense_Mutation_p.S125C|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	125					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	ACCAACACTTCTTTGAATCTT	0.443																																						dbGAP											0													200.0	179.0	186.0					1																	209880330		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.374C>G	1.37:g.209880330C>G	ENSP00000355995:p.Ser125Cys		B2R9Z1|D3DT89	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.S125C	ENST00000367028.2	37	c.374	CCDS1489.1	1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.328952	0.41197	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.88201	-2.35;-2.35;-2.35	5.05	1.78	0.24846	NAD(P)-binding domain (1);	1.387930	0.04050	N	0.304553	D	0.89280	0.6670	L	0.45470	1.425	0.09310	N	1	D	0.62365	0.991	P	0.51974	0.686	T	0.76887	-0.2793	10	0.38643	T	0.18	.	8.2441	0.31677	0.5195:0.3582:0.1223:0.0	.	125	P28845	DHI1_HUMAN	C	125	ENSP00000355995:S125C;ENSP00000261465:S125C;ENSP00000355994:S125C	ENSP00000261465:S125C	S	+	2	0	HSD11B1	207946953	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.134000	0.10436	0.737000	0.32582	0.563000	0.77884	TCT	HSD11B1	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000117594		0.443	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B1	HGNC	protein_coding	OTTHUMT00000088743.2	150	0.00	0	C	NM_005525		209880330	209880330	+1	no_errors	ENST00000261465	ensembl	human	known	69_37n	missense	103	22.56	30	SNP	0.001	G
HUWE1	10075	genome.wustl.edu	37	X	53589797	53589797	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chrX:53589797C>T	ENST00000342160.3	-	52	7656	c.7199G>A	c.(7198-7200)cGa>cAa	p.R2400Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R2400Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2400	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCACCTTCTCGGTTGGCCTG	0.562																																						dbGAP											0													149.0	105.0	120.0					X																	53589797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7199G>A	X.37:g.53589797C>T	ENSP00000340648:p.Arg2400Gln		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R2400Q	ENST00000342160.3	37	c.7199	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643176	0.67244	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37584	1.19;1.19	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	T	0.46560	0.1399	N	0.19112	0.55	0.52501	D	0.999954	D;D	0.71674	0.994;0.998	D;D	0.75484	0.921;0.986	T	0.41324	-0.9515	10	0.38643	T	0.18	.	17.7712	0.88493	0.0:1.0:0.0:0.0	.	2400;2400	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	2400	ENSP00000340648:R2400Q;ENSP00000262854:R2400Q	ENSP00000262854:R2400Q	R	-	2	0	HUWE1	53606522	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.140000	0.77322	2.470000	0.83445	0.600000	0.82982	CGA	HUWE1	-	NULL	ENSG00000086758		0.562	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	132	0.00	0	C	XM_497119		53589797	53589797	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	97	23.62	30	SNP	1.000	T
IGF2R	3482	genome.wustl.edu	37	6	160494353	160494353	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr6:160494353C>T	ENST00000356956.1	+	34	4947	c.4799C>T	c.(4798-4800)tCc>tTc	p.S1600F		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1600					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CCTTGTCCCTCCAAATCCGGC	0.562																																						dbGAP											0													193.0	144.0	160.0					6																	160494353		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4799C>T	6.37:g.160494353C>T	ENSP00000349437:p.Ser1600Phe		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.S1600F	ENST00000356956.1	37	c.4799	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351500	0.82132	.	.	ENSG00000197081	ENST00000356956	T	0.12465	2.68	5.3	5.3	0.74995	Mannose-6-phosphate receptor, binding (1);	0.194440	0.44483	D	0.000458	T	0.18759	0.0450	M	0.67953	2.075	0.50813	D	0.999894	D	0.56035	0.974	P	0.54346	0.749	T	0.00284	-1.1848	10	0.72032	D	0.01	-13.3455	12.6401	0.56705	0.0:0.9238:0.0:0.0762	.	1600	P11717	MPRI_HUMAN	F	1600	ENSP00000349437:S1600F	ENSP00000349437:S1600F	S	+	2	0	IGF2R	160414343	0.982000	0.34865	0.822000	0.32727	0.903000	0.53119	2.404000	0.44539	2.639000	0.89480	0.561000	0.74099	TCC	IGF2R	-	superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.562	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	149	0.00	0	C	NM_000876		160494353	160494353	+1	no_errors	ENST00000356956	ensembl	human	known	69_37n	missense	109	23.78	34	SNP	0.995	T
IL33	90865	genome.wustl.edu	37	9	6252967	6252967	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr9:6252967G>A	ENST00000381434.3	+	4	458	c.445G>A	c.(445-447)Gac>Aac	p.D149N	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	149					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)	p.D149H(1)		breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		ATATGTTGAAGACTTGAAAAA	0.259																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											51.0	52.0	52.0					9																	6252967		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.445G>A	9.37:g.6252967G>A	ENSP00000370842:p.Asp149Asn		B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	NULL	p.D149N	ENST00000381434.3	37	c.445	CCDS6468.1	9	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645730	0.47258	.	.	ENSG00000137033	ENST00000381434	T	0.60424	0.19	5.15	4.25	0.50352	.	0.412070	0.20881	N	0.083992	T	0.63307	0.2500	L	0.47190	1.495	0.80722	D	1	D	0.56035	0.974	P	0.55923	0.787	T	0.66532	-0.5900	10	0.87932	D	0	-13.4406	11.9662	0.53035	0.0:0.1737:0.8263:0.0	.	149	O95760	IL33_HUMAN	N	149	ENSP00000370842:D149N	ENSP00000370842:D149N	D	+	1	0	IL33	6242967	0.998000	0.40836	0.295000	0.24960	0.221000	0.24807	1.783000	0.38664	1.528000	0.49103	0.650000	0.86243	GAC	IL33	-	NULL	ENSG00000137033		0.259	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL33	HGNC	protein_coding	OTTHUMT00000051655.1	138	0.00	0	G	NM_033439		6252967	6252967	+1	no_errors	ENST00000381434	ensembl	human	known	69_37n	missense	67	23.86	21	SNP	0.826	A
KIAA0141	9812	genome.wustl.edu	37	5	141309823	141309823	+	Silent	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr5:141309823C>T	ENST00000432126.2	+	7	872	c.738C>T	c.(736-738)atC>atT	p.I246I	KIAA0141_ENST00000194118.4_Silent_p.I246I	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	246					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTTTCCATCGCTTTCAACT	0.463																																						dbGAP											0													65.0	64.0	64.0					5																	141309823		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.738C>T	5.37:g.141309823C>T			Q969R4|Q96EU9	Silent	SNP	pfam_Sel1-like,smart_Sel1-like	p.I246	ENST00000432126.2	37	c.738	CCDS4268.1	5																																																																																			KIAA0141	-	smart_Sel1-like	ENSG00000081791		0.463	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0141	HGNC	protein_coding	OTTHUMT00000251863.2	168	0.00	0	C	NM_014773		141309823	141309823	+1	no_errors	ENST00000194118	ensembl	human	known	69_37n	silent	129	28.73	52	SNP	0.996	T
KIF13B	23303	genome.wustl.edu	37	8	28999688	28999688	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr8:28999688C>T	ENST00000524189.1	-	19	2358	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	RN7SL781P_ENST00000582428.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA|CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	774					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTATCTTCTTCACACTCTTTC	0.393																																						dbGAP											0													152.0	133.0	139.0					8																	28999688		1822	4076	5898	-	-	-	SO:0001583	missense	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2320G>A	8.37:g.28999688C>T	ENSP00000427900:p.Glu774Lys		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E774K	ENST00000524189.1	37	c.2320	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698807	0.30142	.	.	ENSG00000197892	ENST00000524189	T	0.79554	-1.28	5.28	5.28	0.74379	.	0.295927	0.41001	D	0.000971	T	0.70657	0.3249	L	0.29908	0.895	0.80722	D	1	B	0.22909	0.077	B	0.25614	0.062	T	0.65520	-0.6148	10	0.05833	T	0.94	.	19.1174	0.93346	0.0:1.0:0.0:0.0	.	774	F8VPJ2	.	K	774	ENSP00000427900:E774K	ENSP00000427900:E774K	E	-	1	0	KIF13B	29055607	0.481000	0.25941	1.000000	0.80357	0.985000	0.73830	1.257000	0.32932	2.746000	0.94184	0.655000	0.94253	GAA	KIF13B	-	pfam_KIF1B	ENSG00000197892		0.393	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	371	0.27	1	C			28999688	28999688	-1	no_errors	ENST00000524189	ensembl	human	known	69_37n	missense	235	18.40	53	SNP	1.000	T
LARGE	9215	genome.wustl.edu	37	22	33670562	33670562	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr22:33670562G>A	ENST00000354992.2	-	16	2693	c.2122C>T	c.(2122-2124)Cat>Tat	p.H708Y	LARGE_ENST00000452586.2_Missense_Mutation_p.H507Y|LARGE_ENST00000402320.1_Missense_Mutation_p.H656Y|LARGE_ENST00000397394.2_Missense_Mutation_p.H708Y|LARGE_ENST00000437602.2_Missense_Mutation_p.H659Y|LARGE_ENST00000337431.2_Missense_Mutation_p.H656Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	708					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CTGGGGGCATGAGGCATGTGG	0.532											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(70;397 1175 4573 19089 45288)	dbGAP											0													145.0	119.0	128.0					22																	33670562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.2122C>T	22.37:g.33670562G>A	ENSP00000347088:p.His708Tyr	841	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.H708Y	ENST00000354992.2	37	c.2122	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	G	31	5.094861	0.94197	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.42131	1.94;0.98;1.94;0.98;1.94;0.98	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.75874	0.3909	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;0.999	T	0.79584	-0.1743	10	0.59425	D	0.04	-7.4884	20.8598	0.99761	0.0:0.0:1.0:0.0	.	659;507;656;708	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	Y	708;656;708;656;507;659	ENSP00000347088:H708Y;ENSP00000336636:H656Y;ENSP00000380549:H708Y;ENSP00000385223:H656Y;ENSP00000407917:H507Y;ENSP00000388544:H659Y	ENSP00000336636:H656Y	H	-	1	0	LARGE	32000562	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	9.295000	0.96095	2.937000	0.99478	0.650000	0.86243	CAT	LARGE	-	NULL	ENSG00000133424		0.532	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	185	0.00	0	G	NM_133642		33670562	33670562	-1	no_errors	ENST00000354992	ensembl	human	known	69_37n	missense	104	41.57	74	SNP	1.000	A
LRRIQ1	84125	genome.wustl.edu	37	12	85449856	85449856	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr12:85449856G>A	ENST00000393217.2	+	8	1346	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	429										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTAGTGGATGAAAATTCAAA	0.299																																						dbGAP											0													83.0	95.0	91.0					12																	85449856		2200	4296	6496	-	-	-	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1285G>A	12.37:g.85449856G>A	ENSP00000376910:p.Glu429Lys		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E429K	ENST00000393217.2	37	c.1285	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	g	9.820	1.185616	0.21870	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.57273	0.41	4.75	1.82	0.25136	.	0.509272	0.17322	N	0.178462	T	0.30792	0.0776	L	0.38175	1.15	0.09310	N	1	B;B	0.25486	0.028;0.127	B;B	0.15870	0.006;0.014	T	0.08411	-1.0723	10	0.14656	T	0.56	.	1.2708	0.02020	0.273:0.1576:0.4089:0.1604	.	429;404	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	429;404;429	ENSP00000376910:E429K	ENSP00000256007:E429K	E	+	1	0	LRRIQ1	83973987	0.001000	0.12720	0.000000	0.03702	0.165000	0.22458	0.693000	0.25497	0.530000	0.28619	-0.648000	0.03929	GAA	LRRIQ1	-	NULL	ENSG00000133640		0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	102	0.00	0	G	NM_032165		85449856	85449856	+1	no_errors	ENST00000393217	ensembl	human	known	69_37n	missense	55	25.68	19	SNP	0.000	A
MMS22L	253714	genome.wustl.edu	37	6	97627350	97627350	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr6:97627350T>C	ENST00000275053.4	-	17	2735	c.2470A>G	c.(2470-2472)Atg>Gtg	p.M824V	MMS22L_ENST00000369251.2_Missense_Mutation_p.M784V	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	824					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTAATATACATTTGCAAAACA	0.383																																						dbGAP											0													82.0	79.0	80.0					6																	97627350		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2470A>G	6.37:g.97627350T>C	ENSP00000275053:p.Met824Val		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M824V	ENST00000275053.4	37	c.2470	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034141	0.54896	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.31247	2.27;1.5	5.73	5.73	0.89815	.	0.104315	0.64402	D	0.000003	T	0.24353	0.0590	M	0.63428	1.95	0.36435	D	0.865136	P;P	0.38335	0.627;0.627	B;B	0.39258	0.295;0.155	T	0.13415	-1.0510	10	0.59425	D	0.04	-7.2874	16.0673	0.80893	0.0:0.0:0.0:1.0	.	784;824	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	V	824;784	ENSP00000275053:M824V;ENSP00000358254:M784V	ENSP00000275053:M824V	M	-	1	0	MMS22L	97734071	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.252000	0.65445	2.192000	0.70111	0.524000	0.50904	ATG	MMS22L	-	superfamily_ARM-type_fold	ENSG00000146263		0.383	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	165	0.00	0	T	NM_198468		97627350	97627350	-1	no_errors	ENST00000275053	ensembl	human	known	69_37n	missense	65	40.37	44	SNP	1.000	C
MUC16	94025	genome.wustl.edu	37	19	9091474	9091474	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr19:9091474G>C	ENST00000397910.4	-	1	544	c.341C>G	c.(340-342)tCt>tGt	p.S114C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	114	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGTTCCTAGAGGGAGTTCC	0.502																																						dbGAP											0													125.0	122.0	123.0					19																	9091474		1958	4153	6111	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.341C>G	19.37:g.9091474G>C	ENSP00000381008:p.Ser114Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S114C	ENST00000397910.4	37	c.341	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.992	-0.693618	0.03303	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.709	0.709	0.18150	.	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	.	.	.	D	0.67145	0.996	D	0.65773	0.938	T	0.46830	-0.9163	7	0.87932	D	0	.	.	.	.	.	114	B5ME49	.	C	114	ENSP00000381008:S114C	ENSP00000381008:S114C	S	-	2	0	MUC16	8952474	0.001000	0.12720	0.004000	0.12327	0.021000	0.10359	0.112000	0.15479	0.682000	0.31407	0.313000	0.20887	TCT	MUC16	-	NULL	ENSG00000181143		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	132	0.00	0	G	NM_024690		9091474	9091474	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	112	25.33	38	SNP	0.004	C
MYH10	4628	genome.wustl.edu	37	17	8397132	8397132	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr17:8397132C>A	ENST00000269243.4	-	30	4173	c.4035G>T	c.(4033-4035)aaG>aaT	p.K1345N	MYH10_ENST00000379980.4_Missense_Mutation_p.K1361N|MYH10_ENST00000396239.1_Missense_Mutation_p.K1366N|MYH10_ENST00000360416.3_Missense_Mutation_p.K1376N	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1345					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GAAGACTGTTCTTCTCCTCTT	0.537																																						dbGAP											0													95.0	89.0	91.0					17																	8397132		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4035G>T	17.37:g.8397132C>A	ENSP00000269243:p.Lys1345Asn		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1366N	ENST00000269243.4	37	c.4098	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262408	0.59431	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.2	5.2	0.72013	Myosin tail (1);	0.048955	0.85682	D	0.000000	D	0.85371	0.5681	L	0.39514	1.22	0.80722	D	1	P;B;P	0.48764	0.915;0.221;0.915	P;B;P	0.55161	0.77;0.197;0.77	D	0.84377	0.0547	10	0.40728	T	0.16	.	18.9314	0.92568	0.0:1.0:0.0:0.0	.	1354;1376;1345	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	N	1345;1376;1366;1361	ENSP00000269243:K1345N;ENSP00000353590:K1376N;ENSP00000379539:K1366N;ENSP00000369315:K1361N	ENSP00000269243:K1345N	K	-	3	2	MYH10	8337857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.557000	0.45871	2.700000	0.92200	0.655000	0.94253	AAG	MYH10	-	pfam_Myosin_tail	ENSG00000133026		0.537	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	193	0.00	0	C			8397132	8397132	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	128	32.28	61	SNP	1.000	A
NOP56	10528	genome.wustl.edu	37	20	2636074	2636074	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr20:2636074G>A	ENST00000329276.5	+	6	1189	c.673G>A	c.(673-675)Gag>Aag	p.E225K	SNORD57_ENST00000448188.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|MIR1292_ENST00000408135.1_RNA|IDH3B_ENST00000488299.1_5'Flank	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	225					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GGAACTGAATGAGGACAAGCT	0.537																																						dbGAP											0													127.0	122.0	124.0					20																	2636074		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.673G>A	20.37:g.2636074G>A	ENSP00000370589:p.Glu225Lys		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.E225K	ENST00000329276.5	37	c.673	CCDS13030.1	20	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876510	0.72180	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.75821	-0.97;0.89	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	M	0.67569	2.06	0.80722	D	1	B	0.31968	0.349	B	0.33690	0.168	T	0.76013	-0.3114	10	0.62326	D	0.03	-23.0047	17.3047	0.87192	0.0:0.0:1.0:0.0	.	225	O00567	NOP56_HUMAN	K	225;254	ENSP00000370589:E225K;ENSP00000388497:E254K	ENSP00000370589:E225K	E	+	1	0	NOP56	2584074	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	9.732000	0.98816	2.672000	0.90937	0.561000	0.74099	GAG	NOP56	-	NULL	ENSG00000101361		0.537	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	HGNC	protein_coding	OTTHUMT00000077631.2	206	0.00	0	G	NM_006392		2636074	2636074	+1	no_errors	ENST00000329276	ensembl	human	known	69_37n	missense	214	21.61	59	SNP	1.000	A
CTD-2524L6.3	0	genome.wustl.edu	37	15	72109942	72109942	+	RNA	SNP	G	G	C			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr15:72109942G>C	ENST00000563041.1	+	0	0				NR2E3_ENST00000398840.2_RNA|CTD-2524L6.3_ENST00000561834.1_RNA|CTD-2524L6.3_ENST00000562658.1_RNA																							TATCACTGCGGAACGCATCGA	0.488																																						dbGAP											0													113.0	114.0	114.0					15																	72109942		1916	4125	6041	-	-	-			0																															15.37:g.72109942G>C				RNA	SNP	-	NULL	ENST00000563041.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758865	0.49468	.	.	ENSG00000031544	ENST00000326995	.	.	.	5.3	5.3	0.74995	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.098130	0.64402	D	0.000002	T	0.57286	0.2043	.	.	.	0.48341	D	0.999631	B	0.26512	0.151	B	0.30572	0.117	T	0.59247	-0.7490	7	0.32370	T	0.25	.	17.7463	0.88422	0.0:0.0:1.0:0.0	.	384	Q9Y5X4	NR2E3_HUMAN	Q	296	.	ENSP00000317199:E296Q	E	+	1	0	NR2E3	69896996	1.000000	0.71417	0.851000	0.33527	0.961000	0.63080	7.376000	0.79658	2.474000	0.83562	0.563000	0.77884	GAA	NR2E3	-	-	ENSG00000031544		0.488	CTD-2524L6.3-002	KNOWN	basic	antisense	NR2E3	HGNC	antisense	OTTHUMT00000420826.1	111	0.00	0	G			72109942	72109942	+1	no_errors	ENST00000326995	ensembl	human	known	69_37n	rna	102	24.44	33	SNP	1.000	C
NTMT1	28989	genome.wustl.edu	37	9	132397668	132397668	+	Silent	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr9:132397668C>T	ENST00000372486.1	+	4	946	c.597C>T	c.(595-597)ctC>ctT	p.L199L	NTMT1_ENST00000482347.1_Silent_p.L111L|NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372483.4_Silent_p.L199L|NTMT1_ENST00000372480.1_Silent_p.L199L			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	199					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										GTGCAGGCCTCAGCCTCCTGG	0.607																																						dbGAP											0													105.0	91.0	96.0					9																	132397668		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.597C>T	9.37:g.132397668C>T			A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Silent	SNP	pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik	p.L199	ENST00000372486.1	37	c.597	CCDS35160.1	9																																																																																			NTMT1	-	pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik	ENSG00000148335		0.607	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NTMT1	HGNC	protein_coding	OTTHUMT00000054589.1	22	0.00	0	C	NM_014064		132397668	132397668	+1	no_errors	ENST00000372480	ensembl	human	known	69_37n	silent	39	15.22	7	SNP	0.745	T
NXF5	55998	genome.wustl.edu	37	X	101097746	101097746	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chrX:101097746C>G	ENST00000361708.2	-	3	378	c.19G>C	c.(19-21)Gat>Cat	p.D7H	NXF5_ENST00000537026.1_Missense_Mutation_p.D7H|NXF5_ENST00000473265.2_Missense_Mutation_p.D7H			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	7					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ATGTTTTCATCTTGTGTGTTC	0.428																																						dbGAP											0													415.0	328.0	357.0					X																	101097746		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.19G>C	X.37:g.101097746C>G	ENSP00000355286:p.Asp7His		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	pfam_Tap_RNA-bd	p.D7H	ENST00000361708.2	37	c.19		X	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420953	0.25639	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.53640	0.61;0.61;0.61	2.02	0.112	0.14623	.	0.326006	0.27956	U	0.017168	T	0.56411	0.1983	M	0.75447	2.3	0.09310	N	1	D	0.76494	0.999	P	0.61874	0.895	T	0.47761	-0.9092	10	0.62326	D	0.03	.	3.8852	0.09096	0.0:0.54:0.0:0.46	.	7	A2RRM0	.	H	7	ENSP00000442401:D7H;ENSP00000426978:D7H;ENSP00000355286:D7H	ENSP00000263032:D7H	D	-	1	0	NXF5	100984402	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.800000	0.04555	-0.044000	0.13491	0.406000	0.27484	GAT	NXF5	-	pfam_Tap_RNA-bd	ENSG00000126952		0.428	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		616	0.16	1	C			101097746	101097746	-1	no_errors	ENST00000263032	ensembl	human	known	69_37n	missense	384	26.30	137	SNP	0.000	G
OR2L5	81466	genome.wustl.edu	37	1	248185879	248185879	+	Silent	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr1:248185879C>T	ENST00000355281.1	+	1	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1	Q8NG80	OR2L5_HUMAN	olfactory receptor, family 2, subfamily L, member 5	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TGTTTCCCTTCACTGGCATTG	0.502																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS58068.1	1q44	2012-08-09		2004-03-10	ENSG00000197454	ENSG00000197454		"""GPCR / Class A : Olfactory receptors"""	15011	protein-coding gene	gene with protein product				OR2L11, OR2L5P			Standard	NM_001258284		Approved		uc031psy.1	Q8NG80	OTTHUMG00000040194	ENST00000355281.1:c.630C>T	1.37:g.248185879C>T			Q6IF04	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F210	ENST00000355281.1	37	c.630	CCDS58068.1	1																																																																																			OR2L5	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000197454		0.502	OR2L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L5	HGNC	protein_coding	OTTHUMT00000096851.1	289	0.34	1	C			248185879	248185879	+1	no_errors	ENST00000355281	ensembl	human	known	69_37n	silent	205	23.13	62	SNP	0.001	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	181	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	57	20.83	15	SNP	1.000	A
POTEM	641455	genome.wustl.edu	37	14	20010206	20010206	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr14:20010206C>T	ENST00000551509.1	-	5	1003	c.952G>A	c.(952-954)Gca>Aca	p.A318T	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	318										endometrium(4)|kidney(1)|lung(4)	9						ACTATACTTGCCGATCCACAA	0.358																																						dbGAP											0													18.0	18.0	18.0					14																	20010206		358	741	1099	-	-	-	SO:0001583	missense	0				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.952G>A	14.37:g.20010206C>T	ENSP00000452296:p.Ala318Thr			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A318T	ENST00000551509.1	37	c.952	CCDS45076.1	14	.	.	.	.	.	.	.	.	.	.	c	6.813	0.519148	0.13005	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.63913	-0.07	0.906	-1.81	0.07882	Ankyrin repeat-containing domain (4);	0.737577	0.10063	N	0.720659	T	0.48370	0.1496	N	0.03967	-0.31	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33497	-0.9866	9	.	.	.	.	1.4109	0.02291	0.3274:0.276:0.0:0.3967	.	318	A6NI47	POTEM_HUMAN	T	318;403;318	ENSP00000452296:A318T	.	A	-	1	0	POTEM	19080206	0.000000	0.05858	0.002000	0.10522	0.050000	0.14768	-4.624000	0.00207	-0.861000	0.04094	0.184000	0.17185	GCA	POTEM	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000187537		0.358	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	10	0.00	0	C	NM_001145442		20010206	20010206	-1	no_errors	ENST00000547848	ensembl	human	known	69_37n	missense	2	50.00	2	SNP	0.004	T
RAB33A	9363	genome.wustl.edu	37	X	129318409	129318409	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chrX:129318409G>A	ENST00000257017.4	+	2	823	c.409G>A	c.(409-411)Ggg>Agg	p.G137R		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	137					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						AGAATGCAATGGGCATGCTGT	0.507																																						dbGAP											0													144.0	103.0	117.0					X																	129318409		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.409G>A	X.37:g.129318409G>A	ENSP00000257017:p.Gly137Arg		Q5JUZ6|Q92465	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G137R	ENST00000257017.4	37	c.409	CCDS14621.1	X	.	.	.	.	.	.	.	.	.	.	G	2.803	-0.248606	0.05867	.	.	ENSG00000134594	ENST00000257017	T	0.75050	-0.9	4.72	4.72	0.59763	Small GTP-binding protein domain (1);	0.048414	0.85682	D	0.000000	T	0.46054	0.1373	N	0.01535	-0.81	0.58432	D	0.999999	B	0.10296	0.003	B	0.14023	0.01	T	0.53500	-0.8430	10	0.02654	T	1	-14.8743	17.2243	0.86965	0.0:0.0:1.0:0.0	.	137	Q14088	RB33A_HUMAN	R	137	ENSP00000257017:G137R	ENSP00000257017:G137R	G	+	1	0	RAB33A	129146090	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.561000	0.67339	2.076000	0.62316	0.436000	0.28706	GGG	RAB33A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000134594		0.507	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33A	HGNC	protein_coding	OTTHUMT00000058246.1	96	0.00	0	G	NM_004794		129318409	129318409	+1	no_errors	ENST00000257017	ensembl	human	known	69_37n	missense	99	20.80	26	SNP	1.000	A
RAB39B	116442	genome.wustl.edu	37	X	154490356	154490356	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chrX:154490356C>T	ENST00000369454.3	-	2	674	c.374G>A	c.(373-375)tGt>tAt	p.C125Y		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	125					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCAGGTCACACTTGTGACC	0.507																																						dbGAP											0													148.0	131.0	137.0					X																	154490356		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.374G>A	X.37:g.154490356C>T	ENSP00000358466:p.Cys125Tyr		Q5JT79|Q8NEX3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.C125Y	ENST00000369454.3	37	c.374	CCDS14766.1	X	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743770	0.69418	.	.	ENSG00000155961	ENST00000369454	T	0.80304	-1.36	5.17	5.17	0.71159	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88373	0.6419	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89484	0.3752	10	0.72032	D	0.01	.	15.2574	0.73596	0.0:1.0:0.0:0.0	.	125	Q96DA2	RB39B_HUMAN	Y	125	ENSP00000358466:C125Y	ENSP00000358466:C125Y	C	-	2	0	RAB39B	154143550	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.782000	0.85680	2.280000	0.76307	0.513000	0.50165	TGT	RAB39B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000155961		0.507	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB39B	HGNC	protein_coding	OTTHUMT00000058792.1	150	0.00	0	C	NM_171998		154490356	154490356	-1	no_errors	ENST00000369454	ensembl	human	known	69_37n	missense	111	30.19	48	SNP	1.000	T
RASGRF1	5923	genome.wustl.edu	37	15	79317805	79317805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr15:79317805G>A	ENST00000419573.3	-	10	1667	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Q465*|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	465					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATGGGCACCTGAATGAGGGAA	0.582																																						dbGAP											0													56.0	55.0	56.0					15																	79317805		2196	4293	6489	-	-	-	SO:0001587	stop_gained	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1393C>T	15.37:g.79317805G>A	ENSP00000405963:p.Gln465*		F8VPA5|H0YKF2|J3KQP9|Q16027	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q465*	ENST00000419573.3	37	c.1393	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	41	9.031880	0.99042	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	.	.	.	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	14.4585	0.67433	0.0:0.0:1.0:0.0	.	.	.	.	X	465	.	ENSP00000378224:Q465X	Q	-	1	0	RASGRF1	77104860	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.378000	0.97191	2.241000	0.73720	0.585000	0.79938	CAG	RASGRF1	-	smart_Pleckstrin_homology	ENSG00000058335		0.582	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	46	0.00	0	G	NM_002891		79317805	79317805	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	nonsense	45	32.84	22	SNP	1.000	A
SFT2D2	375035	genome.wustl.edu	37	1	168204351	168204351	+	Silent	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr1:168204351C>T	ENST00000271375.4	+	4	321	c.249C>T	c.(247-249)ctC>ctT	p.L83L	SFT2D2_ENST00000367829.1_Intron|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367825.3_Intron	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					CCATCTTCCTCATGGGACCAG	0.483																																						dbGAP											0													342.0	329.0	334.0					1																	168204351		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.249C>T	1.37:g.168204351C>T				Silent	SNP	pfam_Vesicle_transpt_Got1/SFT2	p.L83	ENST00000271375.4	37	c.249	CCDS1271.1	1																																																																																			SFT2D2	-	pfam_Vesicle_transpt_Got1/SFT2	ENSG00000213064		0.483	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFT2D2	HGNC	protein_coding	OTTHUMT00000083827.2	330	0.00	0	C	NM_199344		168204351	168204351	+1	no_errors	ENST00000271375	ensembl	human	known	69_37n	silent	315	19.85	78	SNP	1.000	T
STAT3	6774	genome.wustl.edu	37	17	40481441	40481441	+	Missense_Mutation	SNP	C	C	T	rs113994137		TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr17:40481441C>T	ENST00000264657.5	-	14	1580	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	STAT3_ENST00000404395.3_Missense_Mutation_p.R423Q|STAT3_ENST00000389272.3_Missense_Mutation_p.R325Q|STAT3_ENST00000588969.1_Missense_Mutation_p.R423Q|STAT3_ENST00000585517.1_Missense_Mutation_p.R423Q	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	423			R -> Q (in AD-HIES). {ECO:0000269|PubMed:17881745}.		acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACAATTGGCTCGGCCCCCATT	0.517									Hyperimmunoglobulin E Recurrent Infection Syndrome																													dbGAP											0			GRCh37	CM077976	STAT3	M	rs113994137						203.0	217.0	212.0					17																	40481441		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1268G>A	17.37:g.40481441C>T	ENSP00000264657:p.Arg423Gln		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.R423Q	ENST00000264657.5	37	c.1268	CCDS32656.1	17	.	.	.	.	.	.	.	.	.	.	C	37	5.984462	0.97173	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.90676	-2.71;-2.71;-2.71	5.49	5.49	0.81192	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.107661	0.64402	D	0.000010	D	0.94666	0.8280	M	0.62088	1.915	0.80722	A	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.72982	0.964;0.979;0.979	D	0.94522	0.7728	9	0.72032	D	0.01	-19.1042	19.5755	0.95441	0.0:1.0:0.0:0.0	.	423;423;423	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	Q	423;325;423	ENSP00000264657:R423Q;ENSP00000373923:R325Q;ENSP00000384943:R423Q	ENSP00000264657:R423Q	R	-	2	0	STAT3	37734967	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.446000	0.80609	2.865000	0.98341	0.655000	0.94253	CGA	STAT3	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000168610		0.517	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	182	0.54	1	C	NM_139276, NM_003150		40481441	40481441	-1	no_errors	ENST00000264657	ensembl	human	known	69_37n	missense	78	38.28	49	SNP	1.000	T
SVEP1	79987	genome.wustl.edu	37	9	113166798	113166798	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr9:113166798C>G	ENST00000401783.2	-	39	9811	c.9475G>C	c.(9475-9477)Gat>Cat	p.D3159H	SVEP1_ENST00000374469.1_Missense_Mutation_p.D3136H|SVEP1_ENST00000297826.5_Missense_Mutation_p.D1085H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3159	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTGAATGTATCTGTATCTGTA	0.398																																						dbGAP											0													248.0	237.0	240.0					9																	113166798		1885	4116	6001	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9475G>C	9.37:g.113166798C>G	ENSP00000384917:p.Asp3159His		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.D3159H	ENST00000401783.2	37	c.9475	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695707	0.48202	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.65732	-0.17;-0.17;-0.17	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.281376	0.38326	N	0.001728	T	0.75889	0.3911	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.74757	-0.3557	10	0.42905	T	0.14	.	14.7584	0.69588	0.1445:0.8555:0.0:0.0	.	3159	Q4LDE5	SVEP1_HUMAN	H	3159;3136;1085	ENSP00000384917:D3159H;ENSP00000363593:D3136H;ENSP00000297826:D1085H	ENSP00000297826:D1085H	D	-	1	0	SVEP1	112206619	0.995000	0.38212	0.865000	0.33974	0.351000	0.29236	3.647000	0.54403	2.725000	0.93324	0.591000	0.81541	GAT	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.398	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		201	0.00	0	C			113166798	113166798	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	135	22.86	40	SNP	0.982	G
TGFBI	7045	genome.wustl.edu	37	5	135389690	135389690	+	Silent	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr5:135389690C>T	ENST00000442011.2	+	9	1346	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	TGFBI_ENST00000305126.8_Silent_p.F395F	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	395	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGACCTTTTCAGACAAGCCG	0.498																																						dbGAP											0													94.0	96.0	95.0					5																	135389690		1925	4152	6077	-	-	-	SO:0001819	synonymous_variant	0			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1185C>T	5.37:g.135389690C>T			D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Nonsense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	p.Q113*	ENST00000442011.2	37	c.337	CCDS47266.1	5	.	.	.	.	.	.	.	.	.	.	C	1.989	-0.432335	0.04669	.	.	ENSG00000120708	ENST00000508767;ENST00000514554	.	.	.	6.08	0.536	0.17138	.	.	.	.	.	.	.	.	.	.	.	0.49213	D	0.999761	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.3329	11.7484	0.51835	0.0:0.5512:0.0:0.4488	.	.	.	.	X	134;113	.	.	Q	+	1	0	TGFBI	135417589	0.946000	0.32159	0.544000	0.28141	0.276000	0.26787	0.896000	0.28377	-0.067000	0.12976	-0.768000	0.03414	CAG	TGFBI	-	pfam_FAS1_domain,superfamily_FAS1_domain,pfscan_FAS1_domain	ENSG00000120708		0.498	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1	105	0.00	0	C			135389690	135389690	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000514554	ensembl	human	novel	69_37n	nonsense	113	24.16	36	SNP	0.111	T
TMEM38B	55151	genome.wustl.edu	37	9	108483865	108483865	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr9:108483865C>T	ENST00000374692.3	+	3	434	c.317C>T	c.(316-318)tCa>tTa	p.S106L	TMEM38B_ENST00000374688.1_Missense_Mutation_p.S52L	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	106						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CAGGGCTATTCATATCTACCT	0.353																																						dbGAP											0													88.0	81.0	84.0					9																	108483865		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.317C>T	9.37:g.108483865C>T	ENSP00000363824:p.Ser106Leu		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	pfam_TRIC_channel	p.S106L	ENST00000374692.3	37	c.317	CCDS6768.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.22|11.22	1.573090|1.573090	0.28092|0.28092	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000435034|ENST00000374692;ENST00000374688	.|T;T	.|0.48522	.|0.81;0.83	5.74|5.74	4.79|4.79	0.61399|0.61399	.|.	.|0.473383	.|0.23552	.|N	.|0.046958	T|T	0.46795|0.46795	0.1411|0.1411	M|M	0.66939|0.66939	2.045|2.045	0.33234|0.33234	D|D	0.556355|0.556355	.|D	.|0.53312	.|0.959	.|B	.|0.43950	.|0.437	T|T	0.60367|0.60367	-0.7277|-0.7277	5|10	.|0.32370	.|T	.|0.25	-13.4089|-13.4089	11.0042|11.0042	0.47624|0.47624	0.0:0.7806:0.1429:0.0765|0.0:0.7806:0.1429:0.0765	.|.	.|106	.|Q9NVV0	.|TM38B_HUMAN	Y|L	43|106;52	.|ENSP00000363824:S106L;ENSP00000363820:S52L	.|ENSP00000363820:S52L	H|S	+|+	1|2	0|0	TMEM38B|TMEM38B	107523686|107523686	0.995000|0.995000	0.38212|0.38212	0.997000|0.997000	0.53966|0.53966	0.240000|0.240000	0.25518|0.25518	3.401000|3.401000	0.52601|0.52601	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CAT|TCA	TMEM38B	-	pfam_TRIC_channel	ENSG00000095209		0.353	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38B	HGNC	protein_coding	OTTHUMT00000053517.1	243	0.00	0	C	NM_018112		108483865	108483865	+1	no_errors	ENST00000374692	ensembl	human	known	69_37n	missense	143	25.91	50	SNP	0.792	T
TOX4	9878	genome.wustl.edu	37	14	21955713	21955713	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr14:21955713A>T	ENST00000405508.1	+	4	455	c.179A>T	c.(178-180)gAt>gTt	p.D60V	TOX4_ENST00000262709.3_Missense_Mutation_p.D60V|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Missense_Mutation_p.D37V			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	60						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCCACTTTGATGACCTGGCA	0.507																																						dbGAP											0													158.0	141.0	147.0					14																	21955713		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.179A>T	14.37:g.21955713A>T	ENSP00000385102:p.Asp60Val		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D60V	ENST00000405508.1	37	c.179	CCDS32043.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.010029|4.010029	0.75046|0.75046	.|.	.|.	ENSG00000092203|ENSG00000092203	ENST00000416256;ENST00000405508;ENST00000262709;ENST00000457430;ENST00000448790|ENST00000545559	T;T;T;T;T|.	0.59224|.	0.28;0.28;0.28;0.28;0.28|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.231788|.	0.43110|.	D|.	0.000615|.	T|T	0.61173|0.61173	0.2326|0.2326	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B;D|.	0.57257|.	0.232;0.979|.	B;P|.	0.55055|.	0.064;0.767|.	T|T	0.59123|0.59123	-0.7513|-0.7513	10|6	0.66056|0.35671	D|T	0.02|0.21	.|.	14.7597|14.7597	0.69596|0.69596	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	37;60|.	B4DPY8;O94842|.	.;TOX4_HUMAN|.	V|L	89;60;60;37;37|27	ENSP00000402195:D89V;ENSP00000385102:D60V;ENSP00000262709:D60V;ENSP00000406196:D37V;ENSP00000393080:D37V|.	ENSP00000262709:D60V|ENSP00000444203:M27L	D|M	+|+	2|1	0|0	TOX4|TOX4	21025553|21025553	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.467000|4.467000	0.60155|0.60155	2.175000|2.175000	0.68902|0.68902	0.533000|0.533000	0.62120|0.62120	GAT|ATG	TOX4	-	NULL	ENSG00000092203		0.507	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX4	HGNC	protein_coding	OTTHUMT00000317287.2	177	0.00	0	A	NM_014828		21955713	21955713	+1	no_errors	ENST00000262709	ensembl	human	known	69_37n	missense	112	25.17	38	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		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_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	77	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	57	31.33	26	SNP	1.000	T
TTLL4	9654	genome.wustl.edu	37	2	219619083	219619083	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr2:219619083A>T	ENST00000392102.1	+	20	3911	c.3571A>T	c.(3571-3573)Agt>Tgt	p.S1191C	TTLL4_ENST00000258398.4_Missense_Mutation_p.S1191C|TTLL4_ENST00000457313.1_3'UTR|TTLL4_ENST00000442769.1_Missense_Mutation_p.S1127C	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1191					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CCAGTCAATCAGTGACTCCCT	0.552																																					GBM(172;1818 2053 15407 20943 49753)	dbGAP											0													100.0	99.0	99.0					2																	219619083		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3571A>T	2.37:g.219619083A>T	ENSP00000375951:p.Ser1191Cys		A8K6V5|Q8WW29	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S1191C	ENST00000392102.1	37	c.3571	CCDS2422.1	2	.	.	.	.	.	.	.	.	.	.	A	9.760	1.169954	0.21621	.	.	ENSG00000135912	ENST00000392102;ENST00000442769;ENST00000258398	T;T;T	0.04406	4.07;3.63;4.07	4.71	2.21	0.28008	.	0.768798	0.11938	N	0.515021	T	0.03739	0.0106	N	0.14661	0.345	0.09310	N	1	B;B	0.33379	0.41;0.41	B;B	0.37731	0.257;0.257	T	0.44421	-0.9329	10	0.66056	D	0.02	.	5.1005	0.14756	0.6966:0.0:0.3034:0.0	.	1127;1191	E7EX20;Q14679	.;TTLL4_HUMAN	C	1191;1127;1191	ENSP00000375951:S1191C;ENSP00000396555:S1127C;ENSP00000258398:S1191C	ENSP00000258398:S1191C	S	+	1	0	TTLL4	219327327	0.497000	0.26067	0.248000	0.24265	0.358000	0.29455	0.695000	0.25527	0.283000	0.22279	0.533000	0.62120	AGT	TTLL4	-	NULL	ENSG00000135912		0.552	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL4	HGNC	protein_coding	OTTHUMT00000256726.1	43	0.00	0	A	NM_014640		219619083	219619083	+1	no_errors	ENST00000258398	ensembl	human	known	69_37n	missense	34	40.35	23	SNP	0.064	T
VWF	7450	genome.wustl.edu	37	12	6125319	6125319	+	Silent	SNP	G	G	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr12:6125319G>T	ENST00000261405.5	-	31	5645	c.5391C>A	c.(5389-5391)gtC>gtA	p.V1797V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1797	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGACCAGGATGACCACCGCCT	0.547																																						dbGAP											0													81.0	71.0	74.0					12																	6125319		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5391C>A	12.37:g.6125319G>T			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.V1797	ENST00000261405.5	37	c.5391	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000110799		0.547	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	65	0.00	0	G	NM_000552		6125319	6125319	-1	no_errors	ENST00000261405	ensembl	human	known	69_37n	silent	64	30.43	28	SNP	0.443	T
XKR4	114786	genome.wustl.edu	37	8	56436760	56436760	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr8:56436760C>T	ENST00000327381.6	+	3	2027	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	643						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TATTCAGGAGCGGTTGGAGTA	0.478																																						dbGAP											0													91.0	80.0	84.0					8																	56436760		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1927C>T	8.37:g.56436760C>T	ENSP00000328326:p.Arg643Trp		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R643W	ENST00000327381.6	37	c.1927	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472851	0.43942	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83250	-1.7	5.55	4.65	0.58169	.	0.429139	0.27986	N	0.017047	D	0.87720	0.6248	L	0.44542	1.39	0.48830	D	0.999719	D	0.89917	1.0	D	0.76071	0.987	D	0.88713	0.3224	10	0.72032	D	0.01	-1.1287	15.3016	0.73955	0.1452:0.8548:0.0:0.0	.	643	Q5GH76	XKR4_HUMAN	W	643	ENSP00000328326:R643W	ENSP00000328326:R643W	R	+	1	2	XKR4	56599314	1.000000	0.71417	0.996000	0.52242	0.645000	0.38454	2.509000	0.45459	1.285000	0.44548	0.655000	0.94253	CGG	XKR4	-	NULL	ENSG00000206579		0.478	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	122	0.00	0	C	NM_052898		56436760	56436760	+1	no_errors	ENST00000327381	ensembl	human	known	69_37n	missense	126	28.00	49	SNP	1.000	T
ZNF589	51385	genome.wustl.edu	37	3	48309446	48309446	+	Silent	SNP	C	C	T			TCGA-BH-A0B0-01A-21D-A10Y-09	TCGA-BH-A0B0-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4680fd93-33c8-4aee-942b-5c616acd02cf	fc9e6937-9af0-4ecb-983c-510ce060bb0e	g.chr3:48309446C>T	ENST00000354698.3	+	4	337	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	ZNF589_ENST00000440261.2_Silent_p.L88L|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000454212.1_3'UTR|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	89	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCTTGCCCTCTGGCCTTTGG	0.493																																					Colon(9;319 328 25374 27611 50948)	dbGAP											0													60.0	61.0	60.0					3																	48309446		1988	4176	6164	-	-	-	SO:0001819	synonymous_variant	0			AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.265C>T	3.37:g.48309446C>T			Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L89	ENST00000354698.3	37	c.265	CCDS43085.1	3																																																																																			ZNF589	-	smart_Znf_C2H2-like,pfscan_Krueppel-associated_box	ENSG00000164048		0.493	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF589	HGNC	protein_coding	OTTHUMT00000346124.1	88	0.00	0	C	NM_016089		48309446	48309446	+1	no_errors	ENST00000354698	ensembl	human	known	69_37n	silent	73	22.34	21	SNP	0.112	T
